Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118503208_118503219delCA2725086117KMT2Ac.7415_7426del (p.Thr2472_Glu2475del)
c.7406_7417del (p.Thr2469_Glu2472del)
c.1355_1366del (p.Thr452_Glu455del)
c.1613_1624del (p.Thr538_Glu541del)
c.7388_7399del (p.Thr2463_Glu2466del)
c.7307_7318del (p.Thr2436_Glu2439del)
n.6658_6669del
c.7316_7327del (p.Thr2439_Glu2442del)
c.7193_7204del (p.Thr2398_Glu2401del)
n.1443_1454del
c.4799_4810del (p.Thr1600_Glu1603del)
c.7412_7423del (p.Thr2471_Glu2474del)
c.5222_5233del (p.Thr1741_Glu1744del)
c.4898_4909del (p.Thr1633_Glu1636del)
 dbSNP
11g.118503210T>ACA382805090KMT2Ac.7417T>A (p.Phe2473Ile)
c.7408T>A (p.Phe2470Ile)
c.1357T>A (p.Phe453Ile)
c.1615T>A (p.Phe539Ile)
c.7390T>A (p.Phe2464Ile)
c.7309T>A (p.Phe2437Ile)
n.6660T>A
c.7318T>A (p.Phe2440Ile)
c.7195T>A (p.Phe2399Ile)
n.1445T>A
c.4801T>A (p.Phe1601Ile)
c.7414T>A (p.Phe2472Ile)
c.5224T>A (p.Phe1742Ile)
c.4900T>A (p.Phe1634Ile)
11g.118503210T>CCA382805087KMT2Ac.7417T>C (p.Phe2473Leu)
c.7408T>C (p.Phe2470Leu)
c.1357T>C (p.Phe453Leu)
c.1615T>C (p.Phe539Leu)
c.7390T>C (p.Phe2464Leu)
c.7309T>C (p.Phe2437Leu)
n.6660T>C
c.7318T>C (p.Phe2440Leu)
c.7195T>C (p.Phe2399Leu)
n.1445T>C
c.4801T>C (p.Phe1601Leu)
c.7414T>C (p.Phe2472Leu)
c.5224T>C (p.Phe1742Leu)
c.4900T>C (p.Phe1634Leu)
11g.118503210T>GCA382805089KMT2Ac.7417T>G (p.Phe2473Val)
c.7408T>G (p.Phe2470Val)
c.1357T>G (p.Phe453Val)
c.1615T>G (p.Phe539Val)
c.7390T>G (p.Phe2464Val)
c.7309T>G (p.Phe2437Val)
n.6660T>G
c.7318T>G (p.Phe2440Val)
c.7195T>G (p.Phe2399Val)
n.1445T>G
c.4801T>G (p.Phe1601Val)
c.7414T>G (p.Phe2472Val)
c.5224T>G (p.Phe1742Val)
c.4900T>G (p.Phe1634Val)
 dbSNP
11g.118503210T=CA2003527577KMT2Ac.7417T= (p.Phe2473=)
c.7408T= (p.Phe2470=)
c.1357T= (p.Phe453=)
c.1615T= (p.Phe539=)
c.7390T= (p.Phe2464=)
c.7309T= (p.Phe2437=)
n.6660T=
c.7318T= (p.Phe2440=)
c.7195T= (p.Phe2399=)
n.1445T=
c.4801T= (p.Phe1601=)
c.7414T= (p.Phe2472=)
c.5224T= (p.Phe1742=)
c.4900T= (p.Phe1634=)
11g.118503211T>ACA6304387KMT2Ac.7418T>A (p.Phe2473Tyr)
c.7409T>A (p.Phe2470Tyr)
c.1358T>A (p.Phe453Tyr)
c.1616T>A (p.Phe539Tyr)
c.7391T>A (p.Phe2464Tyr)
c.7310T>A (p.Phe2437Tyr)
n.6661T>A
c.7319T>A (p.Phe2440Tyr)
c.7196T>A (p.Phe2399Tyr)
n.1446T>A
c.4802T>A (p.Phe1601Tyr)
c.7415T>A (p.Phe2472Tyr)
c.5225T>A (p.Phe1742Tyr)
c.4901T>A (p.Phe1634Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503211T>CCA382805093KMT2Ac.7418T>C (p.Phe2473Ser)
c.7409T>C (p.Phe2470Ser)
c.1358T>C (p.Phe453Ser)
c.1616T>C (p.Phe539Ser)
c.7391T>C (p.Phe2464Ser)
c.7310T>C (p.Phe2437Ser)
n.6661T>C
c.7319T>C (p.Phe2440Ser)
c.7196T>C (p.Phe2399Ser)
n.1446T>C
c.4802T>C (p.Phe1601Ser)
c.7415T>C (p.Phe2472Ser)
c.5225T>C (p.Phe1742Ser)
c.4901T>C (p.Phe1634Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.118503211T>GCA382805094KMT2Ac.7418T>G (p.Phe2473Cys)
c.7409T>G (p.Phe2470Cys)
c.1358T>G (p.Phe453Cys)
c.1616T>G (p.Phe539Cys)
c.7391T>G (p.Phe2464Cys)
c.7310T>G (p.Phe2437Cys)
n.6661T>G
c.7319T>G (p.Phe2440Cys)
c.7196T>G (p.Phe2399Cys)
n.1446T>G
c.4802T>G (p.Phe1601Cys)
c.7415T>G (p.Phe2472Cys)
c.5225T>G (p.Phe1742Cys)
c.4901T>G (p.Phe1634Cys)
11g.118503211T=CA2003527583KMT2Ac.7418T= (p.Phe2473=)
c.7409T= (p.Phe2470=)
c.1358T= (p.Phe453=)
c.1616T= (p.Phe539=)
c.7391T= (p.Phe2464=)
c.7310T= (p.Phe2437=)
n.6661T=
c.7319T= (p.Phe2440=)
c.7196T= (p.Phe2399=)
n.1446T=
c.4802T= (p.Phe1601=)
c.7415T= (p.Phe2472=)
c.5225T= (p.Phe1742=)
c.4901T= (p.Phe1634=)
11g.118503212C>ACA382805096KMT2Ac.7419C>A (p.Phe2473Leu)
c.7410C>A (p.Phe2470Leu)
c.1359C>A (p.Phe453Leu)
c.1617C>A (p.Phe539Leu)
c.7392C>A (p.Phe2464Leu)
c.7311C>A (p.Phe2437Leu)
n.6662C>A
c.7320C>A (p.Phe2440Leu)
c.7197C>A (p.Phe2399Leu)
n.1447C>A
c.4803C>A (p.Phe1601Leu)
c.7416C>A (p.Phe2472Leu)
c.5226C>A (p.Phe1742Leu)
c.4902C>A (p.Phe1634Leu)
 gnomAD v4
11g.118503212C=CA2003527587KMT2Ac.7419C= (p.Phe2473=)
c.7410C= (p.Phe2470=)
c.1359C= (p.Phe453=)
c.1617C= (p.Phe539=)
c.7392C= (p.Phe2464=)
c.7311C= (p.Phe2437=)
n.6662C=
c.7320C= (p.Phe2440=)
c.7197C= (p.Phe2399=)
n.1447C=
c.4803C= (p.Phe1601=)
c.7416C= (p.Phe2472=)
c.5226C= (p.Phe1742=)
c.4902C= (p.Phe1634=)
11g.118503212C>GCA382805098KMT2Ac.7419C>G (p.Phe2473Leu)
c.7410C>G (p.Phe2470Leu)
c.1359C>G (p.Phe453Leu)
c.1617C>G (p.Phe539Leu)
c.7392C>G (p.Phe2464Leu)
c.7311C>G (p.Phe2437Leu)
n.6662C>G
c.7320C>G (p.Phe2440Leu)
c.7197C>G (p.Phe2399Leu)
n.1447C>G
c.4803C>G (p.Phe1601Leu)
c.7416C>G (p.Phe2472Leu)
c.5226C>G (p.Phe1742Leu)
c.4902C>G (p.Phe1634Leu)
 dbSNP gnomAD v4
11g.118503212C>TCA477359316KMT2Ac.7419C>T (p.Phe2473=)
c.7410C>T (p.Phe2470=)
c.1359C>T (p.Phe453=)
c.1617C>T (p.Phe539=)
c.7392C>T (p.Phe2464=)
c.7311C>T (p.Phe2437=)
n.6662C>T
c.7320C>T (p.Phe2440=)
c.7197C>T (p.Phe2399=)
n.1447C>T
c.4803C>T (p.Phe1601=)
c.7416C>T (p.Phe2472=)
c.5226C>T (p.Phe1742=)
c.4902C>T (p.Phe1634=)
 dbSNP
11g.118503213A>CCA382805099KMT2Ac.7420A>C (p.Lys2474Gln)
c.7411A>C (p.Lys2471Gln)
c.1360A>C (p.Lys454Gln)
c.1618A>C (p.Lys540Gln)
c.7393A>C (p.Lys2465Gln)
c.7312A>C (p.Lys2438Gln)
n.6663A>C
c.7321A>C (p.Lys2441Gln)
c.7198A>C (p.Lys2400Gln)
n.1448A>C
c.4804A>C (p.Lys1602Gln)
c.7417A>C (p.Lys2473Gln)
c.5227A>C (p.Lys1743Gln)
c.4903A>C (p.Lys1635Gln)
11g.118503213A>GCA382805101KMT2Ac.7420A>G (p.Lys2474Glu)
c.7411A>G (p.Lys2471Glu)
c.1360A>G (p.Lys454Glu)
c.1618A>G (p.Lys540Glu)
c.7393A>G (p.Lys2465Glu)
c.7312A>G (p.Lys2438Glu)
n.6663A>G
c.7321A>G (p.Lys2441Glu)
c.7198A>G (p.Lys2400Glu)
n.1448A>G
c.4804A>G (p.Lys1602Glu)
c.7417A>G (p.Lys2473Glu)
c.5227A>G (p.Lys1743Glu)
c.4903A>G (p.Lys1635Glu)
11g.118503213A>TCA382805102KMT2Ac.7420A>T (p.Lys2474Ter)
c.7411A>T (p.Lys2471Ter)
c.1360A>T (p.Lys454Ter)
c.1618A>T (p.Lys540Ter)
c.7393A>T (p.Lys2465Ter)
c.7312A>T (p.Lys2438Ter)
n.6663A>T
c.7321A>T (p.Lys2441Ter)
c.7198A>T (p.Lys2400Ter)
n.1448A>T
c.4804A>T (p.Lys1602Ter)
c.7417A>T (p.Lys2473Ter)
c.5227A>T (p.Lys1743Ter)
c.4903A>T (p.Lys1635Ter)
11g.118503214A>CCA382805104KMT2Ac.7421A>C (p.Lys2474Thr)
c.7412A>C (p.Lys2471Thr)
c.1361A>C (p.Lys454Thr)
c.1619A>C (p.Lys540Thr)
c.7394A>C (p.Lys2465Thr)
c.7313A>C (p.Lys2438Thr)
n.6664A>C
c.7322A>C (p.Lys2441Thr)
c.7199A>C (p.Lys2400Thr)
n.1449A>C
c.4805A>C (p.Lys1602Thr)
c.7418A>C (p.Lys2473Thr)
c.5228A>C (p.Lys1743Thr)
c.4904A>C (p.Lys1635Thr)
11g.118503214A>GCA382805106KMT2Ac.7421A>G (p.Lys2474Arg)
c.7412A>G (p.Lys2471Arg)
c.1361A>G (p.Lys454Arg)
c.1619A>G (p.Lys540Arg)
c.7394A>G (p.Lys2465Arg)
c.7313A>G (p.Lys2438Arg)
n.6664A>G
c.7322A>G (p.Lys2441Arg)
c.7199A>G (p.Lys2400Arg)
n.1449A>G
c.4805A>G (p.Lys1602Arg)
c.7418A>G (p.Lys2473Arg)
c.5228A>G (p.Lys1743Arg)
c.4904A>G (p.Lys1635Arg)
11g.118503214A>TCA382805107KMT2Ac.7421A>T (p.Lys2474Ile)
c.7412A>T (p.Lys2471Ile)
c.1361A>T (p.Lys454Ile)
c.1619A>T (p.Lys540Ile)
c.7394A>T (p.Lys2465Ile)
c.7313A>T (p.Lys2438Ile)
n.6664A>T
c.7322A>T (p.Lys2441Ile)
c.7199A>T (p.Lys2400Ile)
n.1449A>T
c.4805A>T (p.Lys1602Ile)
c.7418A>T (p.Lys2473Ile)
c.5228A>T (p.Lys1743Ile)
c.4904A>T (p.Lys1635Ile)
11g.118503215A>CCA382805111KMT2Ac.7422A>C (p.Lys2474Asn)
c.7413A>C (p.Lys2471Asn)
c.1362A>C (p.Lys454Asn)
c.1620A>C (p.Lys540Asn)
c.7395A>C (p.Lys2465Asn)
c.7314A>C (p.Lys2438Asn)
n.6665A>C
c.7323A>C (p.Lys2441Asn)
c.7200A>C (p.Lys2400Asn)
n.1450A>C
c.4806A>C (p.Lys1602Asn)
c.7419A>C (p.Lys2473Asn)
c.5229A>C (p.Lys1743Asn)
c.4905A>C (p.Lys1635Asn)
11g.118503215A>GCA477359320KMT2Ac.7422A>G (p.Lys2474=)
c.7413A>G (p.Lys2471=)
c.1362A>G (p.Lys454=)
c.1620A>G (p.Lys540=)
c.7395A>G (p.Lys2465=)
c.7314A>G (p.Lys2438=)
n.6665A>G
c.7323A>G (p.Lys2441=)
c.7200A>G (p.Lys2400=)
n.1450A>G
c.4806A>G (p.Lys1602=)
c.7419A>G (p.Lys2473=)
c.5229A>G (p.Lys1743=)
c.4905A>G (p.Lys1635=)
11g.118503215A>TCA382805109KMT2Ac.7422A>T (p.Lys2474Asn)
c.7413A>T (p.Lys2471Asn)
c.1362A>T (p.Lys454Asn)
c.1620A>T (p.Lys540Asn)
c.7395A>T (p.Lys2465Asn)
c.7314A>T (p.Lys2438Asn)
n.6665A>T
c.7323A>T (p.Lys2441Asn)
c.7200A>T (p.Lys2400Asn)
n.1450A>T
c.4806A>T (p.Lys1602Asn)
c.7419A>T (p.Lys2473Asn)
c.5229A>T (p.Lys1743Asn)
c.4905A>T (p.Lys1635Asn)
11g.118503216G>ACA382805113KMT2Ac.7423G>A (p.Glu2475Lys)
c.7414G>A (p.Glu2472Lys)
c.1363G>A (p.Glu455Lys)
c.1621G>A (p.Glu541Lys)
c.7396G>A (p.Glu2466Lys)
c.7315G>A (p.Glu2439Lys)
n.6666G>A
c.7324G>A (p.Glu2442Lys)
c.7201G>A (p.Glu2401Lys)
n.1451G>A
c.4807G>A (p.Glu1603Lys)
c.7420G>A (p.Glu2474Lys)
c.5230G>A (p.Glu1744Lys)
c.4906G>A (p.Glu1636Lys)
 ClinVar gnomAD v4
11g.118503216G>CCA382805114KMT2Ac.7423G>C (p.Glu2475Gln)
c.7414G>C (p.Glu2472Gln)
c.1363G>C (p.Glu455Gln)
c.1621G>C (p.Glu541Gln)
c.7396G>C (p.Glu2466Gln)
c.7315G>C (p.Glu2439Gln)
n.6666G>C
c.7324G>C (p.Glu2442Gln)
c.7201G>C (p.Glu2401Gln)
n.1451G>C
c.4807G>C (p.Glu1603Gln)
c.7420G>C (p.Glu2474Gln)
c.5230G>C (p.Glu1744Gln)
c.4906G>C (p.Glu1636Gln)
 dbSNP
11g.118503216G>TCA382805116KMT2Ac.7423G>T (p.Glu2475Ter)
c.7414G>T (p.Glu2472Ter)
c.1363G>T (p.Glu455Ter)
c.1621G>T (p.Glu541Ter)
c.7396G>T (p.Glu2466Ter)
c.7315G>T (p.Glu2439Ter)
n.6666G>T
c.7324G>T (p.Glu2442Ter)
c.7201G>T (p.Glu2401Ter)
n.1451G>T
c.4807G>T (p.Glu1603Ter)
c.7420G>T (p.Glu2474Ter)
c.5230G>T (p.Glu1744Ter)
c.4906G>T (p.Glu1636Ter)
11g.118503217A=CA2003527591KMT2Ac.7424A= (p.Glu2475=)
c.7415A= (p.Glu2472=)
c.1364A= (p.Glu455=)
c.1622A= (p.Glu541=)
c.7397A= (p.Glu2466=)
c.7316A= (p.Glu2439=)
n.6667A=
c.7325A= (p.Glu2442=)
c.7202A= (p.Glu2401=)
n.1452A=
c.4808A= (p.Glu1603=)
c.7421A= (p.Glu2474=)
c.5231A= (p.Glu1744=)
c.4907A= (p.Glu1636=)
11g.118503217A>CCA382805118KMT2Ac.7424A>C (p.Glu2475Ala)
c.7415A>C (p.Glu2472Ala)
c.1364A>C (p.Glu455Ala)
c.1622A>C (p.Glu541Ala)
c.7397A>C (p.Glu2466Ala)
c.7316A>C (p.Glu2439Ala)
n.6667A>C
c.7325A>C (p.Glu2442Ala)
c.7202A>C (p.Glu2401Ala)
n.1452A>C
c.4808A>C (p.Glu1603Ala)
c.7421A>C (p.Glu2474Ala)
c.5231A>C (p.Glu1744Ala)
c.4907A>C (p.Glu1636Ala)
 COSMIC COSMIC
11g.118503217A>GCA6304388KMT2Ac.7424A>G (p.Glu2475Gly)
c.7415A>G (p.Glu2472Gly)
c.1364A>G (p.Glu455Gly)
c.1622A>G (p.Glu541Gly)
c.7397A>G (p.Glu2466Gly)
c.7316A>G (p.Glu2439Gly)
n.6667A>G
c.7325A>G (p.Glu2442Gly)
c.7202A>G (p.Glu2401Gly)
n.1452A>G
c.4808A>G (p.Glu1603Gly)
c.7421A>G (p.Glu2474Gly)
c.5231A>G (p.Glu1744Gly)
c.4907A>G (p.Glu1636Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503217A>TCA382805120KMT2Ac.7424A>T (p.Glu2475Val)
c.7415A>T (p.Glu2472Val)
c.1364A>T (p.Glu455Val)
c.1622A>T (p.Glu541Val)
c.7397A>T (p.Glu2466Val)
c.7316A>T (p.Glu2439Val)
n.6667A>T
c.7325A>T (p.Glu2442Val)
c.7202A>T (p.Glu2401Val)
n.1452A>T
c.4808A>T (p.Glu1603Val)
c.7421A>T (p.Glu2474Val)
c.5231A>T (p.Glu1744Val)
c.4907A>T (p.Glu1636Val)
11g.118503218A>CCA382805122KMT2Ac.7425A>C (p.Glu2475Asp)
c.7416A>C (p.Glu2472Asp)
c.1365A>C (p.Glu455Asp)
c.1623A>C (p.Glu541Asp)
c.7398A>C (p.Glu2466Asp)
c.7317A>C (p.Glu2439Asp)
n.6668A>C
c.7326A>C (p.Glu2442Asp)
c.7203A>C (p.Glu2401Asp)
n.1453A>C
c.4809A>C (p.Glu1603Asp)
c.7422A>C (p.Glu2474Asp)
c.5232A>C (p.Glu1744Asp)
c.4908A>C (p.Glu1636Asp)
11g.118503218A>GCA477359322KMT2Ac.7425A>G (p.Glu2475=)
c.7416A>G (p.Glu2472=)
c.1365A>G (p.Glu455=)
c.1623A>G (p.Glu541=)
c.7398A>G (p.Glu2466=)
c.7317A>G (p.Glu2439=)
n.6668A>G
c.7326A>G (p.Glu2442=)
c.7203A>G (p.Glu2401=)
n.1453A>G
c.4809A>G (p.Glu1603=)
c.7422A>G (p.Glu2474=)
c.5232A>G (p.Glu1744=)
c.4908A>G (p.Glu1636=)
11g.118503218A>TCA382805124KMT2Ac.7425A>T (p.Glu2475Asp)
c.7416A>T (p.Glu2472Asp)
c.1365A>T (p.Glu455Asp)
c.1623A>T (p.Glu541Asp)
c.7398A>T (p.Glu2466Asp)
c.7317A>T (p.Glu2439Asp)
n.6668A>T
c.7326A>T (p.Glu2442Asp)
c.7203A>T (p.Glu2401Asp)
n.1453A>T
c.4809A>T (p.Glu1603Asp)
c.7422A>T (p.Glu2474Asp)
c.5232A>T (p.Glu1744Asp)
c.4908A>T (p.Glu1636Asp)
11g.118503219A>CCA382805125KMT2Ac.7426A>C (p.Lys2476Gln)
c.7417A>C (p.Lys2473Gln)
c.1366A>C (p.Lys456Gln)
c.1624A>C (p.Lys542Gln)
c.7399A>C (p.Lys2467Gln)
c.7318A>C (p.Lys2440Gln)
n.6669A>C
c.7327A>C (p.Lys2443Gln)
c.7204A>C (p.Lys2402Gln)
n.1454A>C
c.4810A>C (p.Lys1604Gln)
c.7423A>C (p.Lys2475Gln)
c.5233A>C (p.Lys1745Gln)
c.4909A>C (p.Lys1637Gln)
11g.118503219A>GCA382805126KMT2Ac.7426A>G (p.Lys2476Glu)
c.7417A>G (p.Lys2473Glu)
c.1366A>G (p.Lys456Glu)
c.1624A>G (p.Lys542Glu)
c.7399A>G (p.Lys2467Glu)
c.7318A>G (p.Lys2440Glu)
n.6669A>G
c.7327A>G (p.Lys2443Glu)
c.7204A>G (p.Lys2402Glu)
n.1454A>G
c.4810A>G (p.Lys1604Glu)
c.7423A>G (p.Lys2475Glu)
c.5233A>G (p.Lys1745Glu)
c.4909A>G (p.Lys1637Glu)
11g.118503219A>TCA382805128KMT2Ac.7426A>T (p.Lys2476Ter)
c.7417A>T (p.Lys2473Ter)
c.1366A>T (p.Lys456Ter)
c.1624A>T (p.Lys542Ter)
c.7399A>T (p.Lys2467Ter)
c.7318A>T (p.Lys2440Ter)
n.6669A>T
c.7327A>T (p.Lys2443Ter)
c.7204A>T (p.Lys2402Ter)
n.1454A>T
c.4810A>T (p.Lys1604Ter)
c.7423A>T (p.Lys2475Ter)
c.5233A>T (p.Lys1745Ter)
c.4909A>T (p.Lys1637Ter)
11g.118503220A=CA2003527594KMT2Ac.7427A= (p.Lys2476=)
c.7418A= (p.Lys2473=)
c.1367A= (p.Lys456=)
c.1625A= (p.Lys542=)
c.7400A= (p.Lys2467=)
c.7319A= (p.Lys2440=)
n.6670A=
c.7328A= (p.Lys2443=)
c.7205A= (p.Lys2402=)
n.1455A=
c.4811A= (p.Lys1604=)
c.7424A= (p.Lys2475=)
c.5234A= (p.Lys1745=)
c.4910A= (p.Lys1637=)
11g.118503220A>CCA382805130KMT2Ac.7427A>C (p.Lys2476Thr)
c.7418A>C (p.Lys2473Thr)
c.1367A>C (p.Lys456Thr)
c.1625A>C (p.Lys542Thr)
c.7400A>C (p.Lys2467Thr)
c.7319A>C (p.Lys2440Thr)
n.6670A>C
c.7328A>C (p.Lys2443Thr)
c.7205A>C (p.Lys2402Thr)
n.1455A>C
c.4811A>C (p.Lys1604Thr)
c.7424A>C (p.Lys2475Thr)
c.5234A>C (p.Lys1745Thr)
c.4910A>C (p.Lys1637Thr)
 dbSNP gnomAD v4
11g.118503220A>GCA382805132KMT2Ac.7427A>G (p.Lys2476Arg)
c.7418A>G (p.Lys2473Arg)
c.1367A>G (p.Lys456Arg)
c.1625A>G (p.Lys542Arg)
c.7400A>G (p.Lys2467Arg)
c.7319A>G (p.Lys2440Arg)
n.6670A>G
c.7328A>G (p.Lys2443Arg)
c.7205A>G (p.Lys2402Arg)
n.1455A>G
c.4811A>G (p.Lys1604Arg)
c.7424A>G (p.Lys2475Arg)
c.5234A>G (p.Lys1745Arg)
c.4910A>G (p.Lys1637Arg)
 dbSNP
11g.118503220A>TCA382805133KMT2Ac.7427A>T (p.Lys2476Met)
c.7418A>T (p.Lys2473Met)
c.1367A>T (p.Lys456Met)
c.1625A>T (p.Lys542Met)
c.7400A>T (p.Lys2467Met)
c.7319A>T (p.Lys2440Met)
n.6670A>T
c.7328A>T (p.Lys2443Met)
c.7205A>T (p.Lys2402Met)
n.1455A>T
c.4811A>T (p.Lys1604Met)
c.7424A>T (p.Lys2475Met)
c.5234A>T (p.Lys1745Met)
c.4910A>T (p.Lys1637Met)
11g.118503221G>ACA477359324KMT2Ac.7428G>A (p.Lys2476=)
c.7419G>A (p.Lys2473=)
c.1368G>A (p.Lys456=)
c.1626G>A (p.Lys542=)
c.7401G>A (p.Lys2467=)
c.7320G>A (p.Lys2440=)
n.6671G>A
c.7329G>A (p.Lys2443=)
c.7206G>A (p.Lys2402=)
n.1456G>A
c.4812G>A (p.Lys1604=)
c.7425G>A (p.Lys2475=)
c.5235G>A (p.Lys1745=)
c.4911G>A (p.Lys1637=)
 dbSNP gnomAD v3 gnomAD v4
11g.118503221G>CCA382805135KMT2Ac.7428G>C (p.Lys2476Asn)
c.7419G>C (p.Lys2473Asn)
c.1368G>C (p.Lys456Asn)
c.1626G>C (p.Lys542Asn)
c.7401G>C (p.Lys2467Asn)
c.7320G>C (p.Lys2440Asn)
n.6671G>C
c.7329G>C (p.Lys2443Asn)
c.7206G>C (p.Lys2402Asn)
n.1456G>C
c.4812G>C (p.Lys1604Asn)
c.7425G>C (p.Lys2475Asn)
c.5235G>C (p.Lys1745Asn)
c.4911G>C (p.Lys1637Asn)
 dbSNP
11g.118503221G=CA2003527597KMT2Ac.7428G= (p.Lys2476=)
c.7419G= (p.Lys2473=)
c.1368G= (p.Lys456=)
c.1626G= (p.Lys542=)
c.7401G= (p.Lys2467=)
c.7320G= (p.Lys2440=)
n.6671G=
c.7329G= (p.Lys2443=)
c.7206G= (p.Lys2402=)
n.1456G=
c.4812G= (p.Lys1604=)
c.7425G= (p.Lys2475=)
c.5235G= (p.Lys1745=)
c.4911G= (p.Lys1637=)
11g.118503221G>TCA382805136KMT2Ac.7428G>T (p.Lys2476Asn)
c.7419G>T (p.Lys2473Asn)
c.1368G>T (p.Lys456Asn)
c.1626G>T (p.Lys542Asn)
c.7401G>T (p.Lys2467Asn)
c.7320G>T (p.Lys2440Asn)
n.6671G>T
c.7329G>T (p.Lys2443Asn)
c.7206G>T (p.Lys2402Asn)
n.1456G>T
c.4812G>T (p.Lys1604Asn)
c.7425G>T (p.Lys2475Asn)
c.5235G>T (p.Lys1745Asn)
c.4911G>T (p.Lys1637Asn)
 dbSNP
11g.118503222C>ACA382805138KMT2Ac.7429C>A (p.His2477Asn)
c.7420C>A (p.His2474Asn)
c.1369C>A (p.His457Asn)
c.1627C>A (p.His543Asn)
c.7402C>A (p.His2468Asn)
c.7321C>A (p.His2441Asn)
n.6672C>A
c.7330C>A (p.His2444Asn)
c.7207C>A (p.His2403Asn)
n.1457C>A
c.4813C>A (p.His1605Asn)
c.7426C>A (p.His2476Asn)
c.5236C>A (p.His1746Asn)
c.4912C>A (p.His1638Asn)
 dbSNP
11g.118503222C=CA2003527600KMT2Ac.7429C= (p.His2477=)
c.7420C= (p.His2474=)
c.1369C= (p.His457=)
c.1627C= (p.His543=)
c.7402C= (p.His2468=)
c.7321C= (p.His2441=)
n.6672C=
c.7330C= (p.His2444=)
c.7207C= (p.His2403=)
n.1457C=
c.4813C= (p.His1605=)
c.7426C= (p.His2476=)
c.5236C= (p.His1746=)
c.4912C= (p.His1638=)
11g.118503222C>GCA382805140KMT2Ac.7429C>G (p.His2477Asp)
c.7420C>G (p.His2474Asp)
c.1369C>G (p.His457Asp)
c.1627C>G (p.His543Asp)
c.7402C>G (p.His2468Asp)
c.7321C>G (p.His2441Asp)
n.6672C>G
c.7330C>G (p.His2444Asp)
c.7207C>G (p.His2403Asp)
n.1457C>G
c.4813C>G (p.His1605Asp)
c.7426C>G (p.His2476Asp)
c.5236C>G (p.His1746Asp)
c.4912C>G (p.His1638Asp)
11g.118503222C>TCA229526775KMT2Ac.7429C>T (p.His2477Tyr)
c.7420C>T (p.His2474Tyr)
c.1369C>T (p.His457Tyr)
c.1627C>T (p.His543Tyr)
c.7402C>T (p.His2468Tyr)
c.7321C>T (p.His2441Tyr)
n.6672C>T
c.7330C>T (p.His2444Tyr)
c.7207C>T (p.His2403Tyr)
n.1457C>T
c.4813C>T (p.His1605Tyr)
c.7426C>T (p.His2476Tyr)
c.5236C>T (p.His1746Tyr)
c.4912C>T (p.His1638Tyr)
 ClinVar dbSNP gnomAD v4
11g.118503223A=CA2003527603KMT2Ac.7430A= (p.His2477=)
c.7421A= (p.His2474=)
c.1370A= (p.His457=)
c.1628A= (p.His543=)
c.7403A= (p.His2468=)
c.7322A= (p.His2441=)
n.6673A=
c.7331A= (p.His2444=)
c.7208A= (p.His2403=)
n.1458A=
c.4814A= (p.His1605=)
c.7427A= (p.His2476=)
c.5237A= (p.His1746=)
c.4913A= (p.His1638=)
11g.118503223A>CCA382805143KMT2Ac.7430A>C (p.His2477Pro)
c.7421A>C (p.His2474Pro)
c.1370A>C (p.His457Pro)
c.1628A>C (p.His543Pro)
c.7403A>C (p.His2468Pro)
c.7322A>C (p.His2441Pro)
n.6673A>C
c.7331A>C (p.His2444Pro)
c.7208A>C (p.His2403Pro)
n.1458A>C
c.4814A>C (p.His1605Pro)
c.7427A>C (p.His2476Pro)
c.5237A>C (p.His1746Pro)
c.4913A>C (p.His1638Pro)
11g.118503223A>GCA382805144KMT2Ac.7430A>G (p.His2477Arg)
c.7421A>G (p.His2474Arg)
c.1370A>G (p.His457Arg)
c.1628A>G (p.His543Arg)
c.7403A>G (p.His2468Arg)
c.7322A>G (p.His2441Arg)
n.6673A>G
c.7331A>G (p.His2444Arg)
c.7208A>G (p.His2403Arg)
n.1458A>G
c.4814A>G (p.His1605Arg)
c.7427A>G (p.His2476Arg)
c.5237A>G (p.His1746Arg)
c.4913A>G (p.His1638Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.118503223A>TCA382805146KMT2Ac.7430A>T (p.His2477Leu)
c.7421A>T (p.His2474Leu)
c.1370A>T (p.His457Leu)
c.1628A>T (p.His543Leu)
c.7403A>T (p.His2468Leu)
c.7322A>T (p.His2441Leu)
n.6673A>T
c.7331A>T (p.His2444Leu)
c.7208A>T (p.His2403Leu)
n.1458A>T
c.4814A>T (p.His1605Leu)
c.7427A>T (p.His2476Leu)
c.5237A>T (p.His1746Leu)
c.4913A>T (p.His1638Leu)
11g.118503224T>ACA382805147KMT2Ac.7431T>A (p.His2477Gln)
c.7422T>A (p.His2474Gln)
c.1371T>A (p.His457Gln)
c.1629T>A (p.His543Gln)
c.7404T>A (p.His2468Gln)
c.7323T>A (p.His2441Gln)
n.6674T>A
c.7332T>A (p.His2444Gln)
c.7209T>A (p.His2403Gln)
n.1459T>A
c.4815T>A (p.His1605Gln)
c.7428T>A (p.His2476Gln)
c.5238T>A (p.His1746Gln)
c.4914T>A (p.His1638Gln)
11g.118503224T>CCA6304389KMT2Ac.7431T>C (p.His2477=)
c.7422T>C (p.His2474=)
c.1371T>C (p.His457=)
c.1629T>C (p.His543=)
c.7404T>C (p.His2468=)
c.7323T>C (p.His2441=)
n.6674T>C
c.7332T>C (p.His2444=)
c.7209T>C (p.His2403=)
n.1459T>C
c.4815T>C (p.His1605=)
c.7428T>C (p.His2476=)
c.5238T>C (p.His1746=)
c.4914T>C (p.His1638=)
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.118503224T>GCA382805150KMT2Ac.7431T>G (p.His2477Gln)
c.7422T>G (p.His2474Gln)
c.1371T>G (p.His457Gln)
c.1629T>G (p.His543Gln)
c.7404T>G (p.His2468Gln)
c.7323T>G (p.His2441Gln)
n.6674T>G
c.7332T>G (p.His2444Gln)
c.7209T>G (p.His2403Gln)
n.1459T>G
c.4815T>G (p.His1605Gln)
c.7428T>G (p.His2476Gln)
c.5238T>G (p.His1746Gln)
c.4914T>G (p.His1638Gln)
11g.118503224T=CA2003527608KMT2Ac.7431T= (p.His2477=)
c.7422T= (p.His2474=)
c.1371T= (p.His457=)
c.1629T= (p.His543=)
c.7404T= (p.His2468=)
c.7323T= (p.His2441=)
n.6674T=
c.7332T= (p.His2444=)
c.7209T= (p.His2403=)
n.1459T=
c.4815T= (p.His1605=)
c.7428T= (p.His2476=)
c.5238T= (p.His1746=)
c.4914T= (p.His1638=)
11g.118503225T>ACA382805151KMT2Ac.7432T>A (p.Ser2478Thr)
c.7423T>A (p.Ser2475Thr)
c.1372T>A (p.Ser458Thr)
c.1630T>A (p.Ser544Thr)
c.7405T>A (p.Ser2469Thr)
c.7324T>A (p.Ser2442Thr)
n.6675T>A
c.7333T>A (p.Ser2445Thr)
c.7210T>A (p.Ser2404Thr)
n.1460T>A
c.4816T>A (p.Ser1606Thr)
c.7429T>A (p.Ser2477Thr)
c.5239T>A (p.Ser1747Thr)
c.4915T>A (p.Ser1639Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.118503225T>CCA382805153KMT2Ac.7432T>C (p.Ser2478Pro)
c.7423T>C (p.Ser2475Pro)
c.1372T>C (p.Ser458Pro)
c.1630T>C (p.Ser544Pro)
c.7405T>C (p.Ser2469Pro)
c.7324T>C (p.Ser2442Pro)
n.6675T>C
c.7333T>C (p.Ser2445Pro)
c.7210T>C (p.Ser2404Pro)
n.1460T>C
c.4816T>C (p.Ser1606Pro)
c.7429T>C (p.Ser2477Pro)
c.5239T>C (p.Ser1747Pro)
c.4915T>C (p.Ser1639Pro)
11g.118503225T>GCA382805154KMT2Ac.7432T>G (p.Ser2478Ala)
c.7423T>G (p.Ser2475Ala)
c.1372T>G (p.Ser458Ala)
c.1630T>G (p.Ser544Ala)
c.7405T>G (p.Ser2469Ala)
c.7324T>G (p.Ser2442Ala)
n.6675T>G
c.7333T>G (p.Ser2445Ala)
c.7210T>G (p.Ser2404Ala)
n.1460T>G
c.4816T>G (p.Ser1606Ala)
c.7429T>G (p.Ser2477Ala)
c.5239T>G (p.Ser1747Ala)
c.4915T>G (p.Ser1639Ala)
11g.118503225T=CA2003527612KMT2Ac.7432T= (p.Ser2478=)
c.7423T= (p.Ser2475=)
c.1372T= (p.Ser458=)
c.1630T= (p.Ser544=)
c.7405T= (p.Ser2469=)
c.7324T= (p.Ser2442=)
n.6675T=
c.7333T= (p.Ser2445=)
c.7210T= (p.Ser2404=)
n.1460T=
c.4816T= (p.Ser1606=)
c.7429T= (p.Ser2477=)
c.5239T= (p.Ser1747=)
c.4915T= (p.Ser1639=)
11g.118503226C>ACA382805159KMT2Ac.7433C>A (p.Ser2478Tyr)
c.7424C>A (p.Ser2475Tyr)
c.1373C>A (p.Ser458Tyr)
c.1631C>A (p.Ser544Tyr)
c.7406C>A (p.Ser2469Tyr)
c.7325C>A (p.Ser2442Tyr)
n.6676C>A
c.7334C>A (p.Ser2445Tyr)
c.7211C>A (p.Ser2404Tyr)
n.1461C>A
c.4817C>A (p.Ser1606Tyr)
c.7430C>A (p.Ser2477Tyr)
c.5240C>A (p.Ser1747Tyr)
c.4916C>A (p.Ser1639Tyr)
 dbSNP gnomAD v4
11g.118503226C>GCA382805158KMT2Ac.7433C>G (p.Ser2478Cys)
c.7424C>G (p.Ser2475Cys)
c.1373C>G (p.Ser458Cys)
c.1631C>G (p.Ser544Cys)
c.7406C>G (p.Ser2469Cys)
c.7325C>G (p.Ser2442Cys)
n.6676C>G
c.7334C>G (p.Ser2445Cys)
c.7211C>G (p.Ser2404Cys)
n.1461C>G
c.4817C>G (p.Ser1606Cys)
c.7430C>G (p.Ser2477Cys)
c.5240C>G (p.Ser1747Cys)
c.4916C>G (p.Ser1639Cys)
 dbSNP
11g.118503226C>TCA382805156KMT2Ac.7433C>T (p.Ser2478Phe)
c.7424C>T (p.Ser2475Phe)
c.1373C>T (p.Ser458Phe)
c.1631C>T (p.Ser544Phe)
c.7406C>T (p.Ser2469Phe)
c.7325C>T (p.Ser2442Phe)
n.6676C>T
c.7334C>T (p.Ser2445Phe)
c.7211C>T (p.Ser2404Phe)
n.1461C>T
c.4817C>T (p.Ser1606Phe)
c.7430C>T (p.Ser2477Phe)
c.5240C>T (p.Ser1747Phe)
c.4916C>T (p.Ser1639Phe)
 dbSNP
11g.118503227C>ACA477359328KMT2Ac.7434C>A (p.Ser2478=)
c.7425C>A (p.Ser2475=)
c.1374C>A (p.Ser458=)
c.1632C>A (p.Ser544=)
c.7407C>A (p.Ser2469=)
c.7326C>A (p.Ser2442=)
n.6677C>A
c.7335C>A (p.Ser2445=)
c.7212C>A (p.Ser2404=)
n.1462C>A
c.4818C>A (p.Ser1606=)
c.7431C>A (p.Ser2477=)
c.5241C>A (p.Ser1747=)
c.4917C>A (p.Ser1639=)
11g.118503227C=CA2003527615KMT2Ac.7434C= (p.Ser2478=)
c.7425C= (p.Ser2475=)
c.1374C= (p.Ser458=)
c.1632C= (p.Ser544=)
c.7407C= (p.Ser2469=)
c.7326C= (p.Ser2442=)
n.6677C=
c.7335C= (p.Ser2445=)
c.7212C= (p.Ser2404=)
n.1462C=
c.4818C= (p.Ser1606=)
c.7431C= (p.Ser2477=)
c.5241C= (p.Ser1747=)
c.4917C= (p.Ser1639=)
11g.118503227C>GCA477359327KMT2Ac.7434C>G (p.Ser2478=)
c.7425C>G (p.Ser2475=)
c.1374C>G (p.Ser458=)
c.1632C>G (p.Ser544=)
c.7407C>G (p.Ser2469=)
c.7326C>G (p.Ser2442=)
n.6677C>G
c.7335C>G (p.Ser2445=)
c.7212C>G (p.Ser2404=)
n.1462C>G
c.4818C>G (p.Ser1606=)
c.7431C>G (p.Ser2477=)
c.5241C>G (p.Ser1747=)
c.4917C>G (p.Ser1639=)
11g.118503227C>TCA6304390KMT2Ac.7434C>T (p.Ser2478=)
c.7425C>T (p.Ser2475=)
c.1374C>T (p.Ser458=)
c.1632C>T (p.Ser544=)
c.7407C>T (p.Ser2469=)
c.7326C>T (p.Ser2442=)
n.6677C>T
c.7335C>T (p.Ser2445=)
c.7212C>T (p.Ser2404=)
n.1462C>T
c.4818C>T (p.Ser1606=)
c.7431C>T (p.Ser2477=)
c.5241C>T (p.Ser1747=)
c.4917C>T (p.Ser1639=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503228A>CCA382805165KMT2Ac.7435A>C (p.Ser2479Arg)
c.7426A>C (p.Ser2476Arg)
c.1375A>C (p.Ser459Arg)
c.1633A>C (p.Ser545Arg)
c.7408A>C (p.Ser2470Arg)
c.7327A>C (p.Ser2443Arg)
n.6678A>C
c.7336A>C (p.Ser2446Arg)
c.7213A>C (p.Ser2405Arg)
n.1463A>C
c.4819A>C (p.Ser1607Arg)
c.7432A>C (p.Ser2478Arg)
c.5242A>C (p.Ser1748Arg)
c.4918A>C (p.Ser1640Arg)
11g.118503228A>GCA382805163KMT2Ac.7435A>G (p.Ser2479Gly)
c.7426A>G (p.Ser2476Gly)
c.1375A>G (p.Ser459Gly)
c.1633A>G (p.Ser545Gly)
c.7408A>G (p.Ser2470Gly)
c.7327A>G (p.Ser2443Gly)
n.6678A>G
c.7336A>G (p.Ser2446Gly)
c.7213A>G (p.Ser2405Gly)
n.1463A>G
c.4819A>G (p.Ser1607Gly)
c.7432A>G (p.Ser2478Gly)
c.5242A>G (p.Ser1748Gly)
c.4918A>G (p.Ser1640Gly)
11g.118503228A>TCA382805164KMT2Ac.7435A>T (p.Ser2479Cys)
c.7426A>T (p.Ser2476Cys)
c.1375A>T (p.Ser459Cys)
c.1633A>T (p.Ser545Cys)
c.7408A>T (p.Ser2470Cys)
c.7327A>T (p.Ser2443Cys)
n.6678A>T
c.7336A>T (p.Ser2446Cys)
c.7213A>T (p.Ser2405Cys)
n.1463A>T
c.4819A>T (p.Ser1607Cys)
c.7432A>T (p.Ser2478Cys)
c.5242A>T (p.Ser1748Cys)
c.4918A>T (p.Ser1640Cys)
11g.118503229G>ACA382805167KMT2Ac.7436G>A (p.Ser2479Asn)
c.7427G>A (p.Ser2476Asn)
c.1376G>A (p.Ser459Asn)
c.1634G>A (p.Ser545Asn)
c.7409G>A (p.Ser2470Asn)
c.7328G>A (p.Ser2443Asn)
n.6679G>A
c.7337G>A (p.Ser2446Asn)
c.7214G>A (p.Ser2405Asn)
n.1464G>A
c.4820G>A (p.Ser1607Asn)
c.7433G>A (p.Ser2478Asn)
c.5243G>A (p.Ser1748Asn)
c.4919G>A (p.Ser1640Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503229G>CCA382805169KMT2Ac.7436G>C (p.Ser2479Thr)
c.7427G>C (p.Ser2476Thr)
c.1376G>C (p.Ser459Thr)
c.1634G>C (p.Ser545Thr)
c.7409G>C (p.Ser2470Thr)
c.7328G>C (p.Ser2443Thr)
n.6679G>C
c.7337G>C (p.Ser2446Thr)
c.7214G>C (p.Ser2405Thr)
n.1464G>C
c.4820G>C (p.Ser1607Thr)
c.7433G>C (p.Ser2478Thr)
c.5243G>C (p.Ser1748Thr)
c.4919G>C (p.Ser1640Thr)
11g.118503229G=CA2003527618KMT2Ac.7436G= (p.Ser2479=)
c.7427G= (p.Ser2476=)
c.1376G= (p.Ser459=)
c.1634G= (p.Ser545=)
c.7409G= (p.Ser2470=)
c.7328G= (p.Ser2443=)
n.6679G=
c.7337G= (p.Ser2446=)
c.7214G= (p.Ser2405=)
n.1464G=
c.4820G= (p.Ser1607=)
c.7433G= (p.Ser2478=)
c.5243G= (p.Ser1748=)
c.4919G= (p.Ser1640=)
11g.118503229G>TCA382805170KMT2Ac.7436G>T (p.Ser2479Ile)
c.7427G>T (p.Ser2476Ile)
c.1376G>T (p.Ser459Ile)
c.1634G>T (p.Ser545Ile)
c.7409G>T (p.Ser2470Ile)
c.7328G>T (p.Ser2443Ile)
n.6679G>T
c.7337G>T (p.Ser2446Ile)
c.7214G>T (p.Ser2405Ile)
n.1464G>T
c.4820G>T (p.Ser1607Ile)
c.7433G>T (p.Ser2478Ile)
c.5243G>T (p.Ser1748Ile)
c.4919G>T (p.Ser1640Ile)
11g.118503230T>ACA382805172KMT2Ac.7437T>A (p.Ser2479Arg)
c.7428T>A (p.Ser2476Arg)
c.1377T>A (p.Ser459Arg)
c.1635T>A (p.Ser545Arg)
c.7410T>A (p.Ser2470Arg)
c.7329T>A (p.Ser2443Arg)
n.6680T>A
c.7338T>A (p.Ser2446Arg)
c.7215T>A (p.Ser2405Arg)
n.1465T>A
c.4821T>A (p.Ser1607Arg)
c.7434T>A (p.Ser2478Arg)
c.5244T>A (p.Ser1748Arg)
c.4920T>A (p.Ser1640Arg)
11g.118503230T>CCA6304391KMT2Ac.7437T>C (p.Ser2479=)
c.7428T>C (p.Ser2476=)
c.1377T>C (p.Ser459=)
c.1635T>C (p.Ser545=)
c.7410T>C (p.Ser2470=)
c.7329T>C (p.Ser2443=)
n.6680T>C
c.7338T>C (p.Ser2446=)
c.7215T>C (p.Ser2405=)
n.1465T>C
c.4821T>C (p.Ser1607=)
c.7434T>C (p.Ser2478=)
c.5244T>C (p.Ser1748=)
c.4920T>C (p.Ser1640=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503230T>GCA382805174KMT2Ac.7437T>G (p.Ser2479Arg)
c.7428T>G (p.Ser2476Arg)
c.1377T>G (p.Ser459Arg)
c.1635T>G (p.Ser545Arg)
c.7410T>G (p.Ser2470Arg)
c.7329T>G (p.Ser2443Arg)
n.6680T>G
c.7338T>G (p.Ser2446Arg)
c.7215T>G (p.Ser2405Arg)
n.1465T>G
c.4821T>G (p.Ser1607Arg)
c.7434T>G (p.Ser2478Arg)
c.5244T>G (p.Ser1748Arg)
c.4920T>G (p.Ser1640Arg)
11g.118503230T=CA2003527622KMT2Ac.7437T= (p.Ser2479=)
c.7428T= (p.Ser2476=)
c.1377T= (p.Ser459=)
c.1635T= (p.Ser545=)
c.7410T= (p.Ser2470=)
c.7329T= (p.Ser2443=)
n.6680T=
c.7338T= (p.Ser2446=)
c.7215T= (p.Ser2405=)
n.1465T=
c.4821T= (p.Ser1607=)
c.7434T= (p.Ser2478=)
c.5244T= (p.Ser1748=)
c.4920T= (p.Ser1640=)
11g.118503231A>CCA382805176KMT2Ac.7438A>C (p.Lys2480Gln)
c.7429A>C (p.Lys2477Gln)
c.1378A>C (p.Lys460Gln)
c.1636A>C (p.Lys546Gln)
c.7411A>C (p.Lys2471Gln)
c.7330A>C (p.Lys2444Gln)
n.6681A>C
c.7339A>C (p.Lys2447Gln)
c.7216A>C (p.Lys2406Gln)
n.1466A>C
c.4822A>C (p.Lys1608Gln)
c.7435A>C (p.Lys2479Gln)
c.5245A>C (p.Lys1749Gln)
c.4921A>C (p.Lys1641Gln)
11g.118503231A>GCA382805178KMT2Ac.7438A>G (p.Lys2480Glu)
c.7429A>G (p.Lys2477Glu)
c.1378A>G (p.Lys460Glu)
c.1636A>G (p.Lys546Glu)
c.7411A>G (p.Lys2471Glu)
c.7330A>G (p.Lys2444Glu)
n.6681A>G
c.7339A>G (p.Lys2447Glu)
c.7216A>G (p.Lys2406Glu)
n.1466A>G
c.4822A>G (p.Lys1608Glu)
c.7435A>G (p.Lys2479Glu)
c.5245A>G (p.Lys1749Glu)
c.4921A>G (p.Lys1641Glu)
 gnomAD v4
11g.118503231A>TCA382805180KMT2Ac.7438A>T (p.Lys2480Ter)
c.7429A>T (p.Lys2477Ter)
c.1378A>T (p.Lys460Ter)
c.1636A>T (p.Lys546Ter)
c.7411A>T (p.Lys2471Ter)
c.7330A>T (p.Lys2444Ter)
n.6681A>T
c.7339A>T (p.Lys2447Ter)
c.7216A>T (p.Lys2406Ter)
n.1466A>T
c.4822A>T (p.Lys1608Ter)
c.7435A>T (p.Lys2479Ter)
c.5245A>T (p.Lys1749Ter)
c.4921A>T (p.Lys1641Ter)
11g.118503232A>CCA382805182KMT2Ac.7439A>C (p.Lys2480Thr)
c.7430A>C (p.Lys2477Thr)
c.1379A>C (p.Lys460Thr)
c.1637A>C (p.Lys546Thr)
c.7412A>C (p.Lys2471Thr)
c.7331A>C (p.Lys2444Thr)
n.6682A>C
c.7340A>C (p.Lys2447Thr)
c.7217A>C (p.Lys2406Thr)
n.1467A>C
c.4823A>C (p.Lys1608Thr)
c.7436A>C (p.Lys2479Thr)
c.5246A>C (p.Lys1749Thr)
c.4922A>C (p.Lys1641Thr)
11g.118503232A>GCA382805183KMT2Ac.7439A>G (p.Lys2480Arg)
c.7430A>G (p.Lys2477Arg)
c.1379A>G (p.Lys460Arg)
c.1637A>G (p.Lys546Arg)
c.7412A>G (p.Lys2471Arg)
c.7331A>G (p.Lys2444Arg)
n.6682A>G
c.7340A>G (p.Lys2447Arg)
c.7217A>G (p.Lys2406Arg)
n.1467A>G
c.4823A>G (p.Lys1608Arg)
c.7436A>G (p.Lys2479Arg)
c.5246A>G (p.Lys1749Arg)
c.4922A>G (p.Lys1641Arg)
11g.118503232A>TCA382805185KMT2Ac.7439A>T (p.Lys2480Ile)
c.7430A>T (p.Lys2477Ile)
c.1379A>T (p.Lys460Ile)
c.1637A>T (p.Lys546Ile)
c.7412A>T (p.Lys2471Ile)
c.7331A>T (p.Lys2444Ile)
n.6682A>T
c.7340A>T (p.Lys2447Ile)
c.7217A>T (p.Lys2406Ile)
n.1467A>T
c.4823A>T (p.Lys1608Ile)
c.7436A>T (p.Lys2479Ile)
c.5246A>T (p.Lys1749Ile)
c.4922A>T (p.Lys1641Ile)
11g.118503233A>CCA382805186KMT2Ac.7440A>C (p.Lys2480Asn)
c.7431A>C (p.Lys2477Asn)
c.1380A>C (p.Lys460Asn)
c.1638A>C (p.Lys546Asn)
c.7413A>C (p.Lys2471Asn)
c.7332A>C (p.Lys2444Asn)
n.6683A>C
c.7341A>C (p.Lys2447Asn)
c.7218A>C (p.Lys2406Asn)
n.1468A>C
c.4824A>C (p.Lys1608Asn)
c.7437A>C (p.Lys2479Asn)
c.5247A>C (p.Lys1749Asn)
c.4923A>C (p.Lys1641Asn)
11g.118503233A>GCA477359332KMT2Ac.7440A>G (p.Lys2480=)
c.7431A>G (p.Lys2477=)
c.1380A>G (p.Lys460=)
c.1638A>G (p.Lys546=)
c.7413A>G (p.Lys2471=)
c.7332A>G (p.Lys2444=)
n.6683A>G
c.7341A>G (p.Lys2447=)
c.7218A>G (p.Lys2406=)
n.1468A>G
c.4824A>G (p.Lys1608=)
c.7437A>G (p.Lys2479=)
c.5247A>G (p.Lys1749=)
c.4923A>G (p.Lys1641=)
 COSMIC
11g.118503233A>TCA382805187KMT2Ac.7440A>T (p.Lys2480Asn)
c.7431A>T (p.Lys2477Asn)
c.1380A>T (p.Lys460Asn)
c.1638A>T (p.Lys546Asn)
c.7413A>T (p.Lys2471Asn)
c.7332A>T (p.Lys2444Asn)
n.6683A>T
c.7341A>T (p.Lys2447Asn)
c.7218A>T (p.Lys2406Asn)
n.1468A>T
c.4824A>T (p.Lys1608Asn)
c.7437A>T (p.Lys2479Asn)
c.5247A>T (p.Lys1749Asn)
c.4923A>T (p.Lys1641Asn)
 gnomAD v4
11g.118503234T>ACA382805189KMT2Ac.7441T>A (p.Ser2481Thr)
c.7432T>A (p.Ser2478Thr)
c.1381T>A (p.Ser461Thr)
c.1639T>A (p.Ser547Thr)
c.7414T>A (p.Ser2472Thr)
c.7333T>A (p.Ser2445Thr)
n.6684T>A
c.7342T>A (p.Ser2448Thr)
c.7219T>A (p.Ser2407Thr)
n.1469T>A
c.4825T>A (p.Ser1609Thr)
c.7438T>A (p.Ser2480Thr)
c.5248T>A (p.Ser1750Thr)
c.4924T>A (p.Ser1642Thr)
11g.118503234T>CCA382805190KMT2Ac.7441T>C (p.Ser2481Pro)
c.7432T>C (p.Ser2478Pro)
c.1381T>C (p.Ser461Pro)
c.1639T>C (p.Ser547Pro)
c.7414T>C (p.Ser2472Pro)
c.7333T>C (p.Ser2445Pro)
n.6684T>C
c.7342T>C (p.Ser2448Pro)
c.7219T>C (p.Ser2407Pro)
n.1469T>C
c.4825T>C (p.Ser1609Pro)
c.7438T>C (p.Ser2480Pro)
c.5248T>C (p.Ser1750Pro)
c.4924T>C (p.Ser1642Pro)
11g.118503234T>GCA382805192KMT2Ac.7441T>G (p.Ser2481Ala)
c.7432T>G (p.Ser2478Ala)
c.1381T>G (p.Ser461Ala)
c.1639T>G (p.Ser547Ala)
c.7414T>G (p.Ser2472Ala)
c.7333T>G (p.Ser2445Ala)
n.6684T>G
c.7342T>G (p.Ser2448Ala)
c.7219T>G (p.Ser2407Ala)
n.1469T>G
c.4825T>G (p.Ser1609Ala)
c.7438T>G (p.Ser2480Ala)
c.5248T>G (p.Ser1750Ala)
c.4924T>G (p.Ser1642Ala)
11g.118503235C>ACA382805193KMT2Ac.7442C>A (p.Ser2481Tyr)
c.7433C>A (p.Ser2478Tyr)
c.1382C>A (p.Ser461Tyr)
c.1640C>A (p.Ser547Tyr)
c.7415C>A (p.Ser2472Tyr)
c.7334C>A (p.Ser2445Tyr)
n.6685C>A
c.7343C>A (p.Ser2448Tyr)
c.7220C>A (p.Ser2407Tyr)
n.1470C>A
c.4826C>A (p.Ser1609Tyr)
c.7439C>A (p.Ser2480Tyr)
c.5249C>A (p.Ser1750Tyr)
c.4925C>A (p.Ser1642Tyr)
 ClinVar
11g.118503235C>GCA382805194KMT2Ac.7442C>G (p.Ser2481Cys)
c.7433C>G (p.Ser2478Cys)
c.1382C>G (p.Ser461Cys)
c.1640C>G (p.Ser547Cys)
c.7415C>G (p.Ser2472Cys)
c.7334C>G (p.Ser2445Cys)
n.6685C>G
c.7343C>G (p.Ser2448Cys)
c.7220C>G (p.Ser2407Cys)
n.1470C>G
c.4826C>G (p.Ser1609Cys)
c.7439C>G (p.Ser2480Cys)
c.5249C>G (p.Ser1750Cys)
c.4925C>G (p.Ser1642Cys)
11g.118503235C>TCA382805196KMT2Ac.7442C>T (p.Ser2481Phe)
c.7433C>T (p.Ser2478Phe)
c.1382C>T (p.Ser461Phe)
c.1640C>T (p.Ser547Phe)
c.7415C>T (p.Ser2472Phe)
c.7334C>T (p.Ser2445Phe)
n.6685C>T
c.7343C>T (p.Ser2448Phe)
c.7220C>T (p.Ser2407Phe)
n.1470C>T
c.4826C>T (p.Ser1609Phe)
c.7439C>T (p.Ser2480Phe)
c.5249C>T (p.Ser1750Phe)
c.4925C>T (p.Ser1642Phe)
11g.118503235_118503236delinsCTCA2003527626KMT2Ac.7442_7443delinsCT (p.Ser2481=)
c.7433_7434delinsCT (p.Ser2478=)
c.1382_1383delinsCT (p.Ser461=)
c.1640_1641delinsCT (p.Ser547=)
c.7415_7416delinsCT (p.Ser2472=)
c.7334_7335delinsCT (p.Ser2445=)
n.6685_6686delinsCT
c.7343_7344delinsCT (p.Ser2448=)
c.7220_7221delinsCT (p.Ser2407=)
n.1470_1471delinsCT
c.4826_4827delinsCT (p.Ser1609=)
c.7439_7440delinsCT (p.Ser2480=)
c.5249_5250delinsCT (p.Ser1750=)
c.4925_4926delinsCT (p.Ser1642=)
11g.118503236T>ACA477359335KMT2Ac.7443T>A (p.Ser2481=)
c.7434T>A (p.Ser2478=)
c.1383T>A (p.Ser461=)
c.1641T>A (p.Ser547=)
c.7416T>A (p.Ser2472=)
c.7335T>A (p.Ser2445=)
n.6686T>A
c.7344T>A (p.Ser2448=)
c.7221T>A (p.Ser2407=)
n.1471T>A
c.4827T>A (p.Ser1609=)
c.7440T>A (p.Ser2480=)
c.5250T>A (p.Ser1750=)
c.4926T>A (p.Ser1642=)
 COSMIC COSMIC
11g.118503236T>CCA477359336KMT2Ac.7443T>C (p.Ser2481=)
c.7434T>C (p.Ser2478=)
c.1383T>C (p.Ser461=)
c.1641T>C (p.Ser547=)
c.7416T>C (p.Ser2472=)
c.7335T>C (p.Ser2445=)
n.6686T>C
c.7344T>C (p.Ser2448=)
c.7221T>C (p.Ser2407=)
n.1471T>C
c.4827T>C (p.Ser1609=)
c.7440T>C (p.Ser2480=)
c.5250T>C (p.Ser1750=)
c.4926T>C (p.Ser1642=)
11g.118503236T>GCA477359337KMT2Ac.7443T>G (p.Ser2481=)
c.7434T>G (p.Ser2478=)
c.1383T>G (p.Ser461=)
c.1641T>G (p.Ser547=)
c.7416T>G (p.Ser2472=)
c.7335T>G (p.Ser2445=)
n.6686T>G
c.7344T>G (p.Ser2448=)
c.7221T>G (p.Ser2407=)
n.1471T>G
c.4827T>G (p.Ser1609=)
c.7440T>G (p.Ser2480=)
c.5250T>G (p.Ser1750=)
c.4926T>G (p.Ser1642=)
11g.118503241dupCA2724978460KMT2Ac.7448dup (p.Leu2483PhefsTer10)
c.7439dup (p.Leu2480PhefsTer10)
c.1388dup (p.Leu463PhefsTer10)
c.1646dup (p.Leu549PhefsTer10)
c.7421dup (p.Leu2474PhefsTer10)
c.7340dup (p.Leu2447PhefsTer10)
n.6691dup
c.7349dup (p.Leu2450PhefsTer10)
c.7226dup (p.Leu2409PhefsTer10)
n.1476dup
c.4832dup (p.Leu1611PhefsTer10)
c.7445dup (p.Leu2482PhefsTer10)
c.5255dup (p.Leu1752PhefsTer10)
c.4931dup (p.Leu1644PhefsTer10)
 dbSNP
11g.118503241delCA915947783KMT2Ac.7448del (p.Leu2483TrpfsTer6)
c.7439del (p.Leu2480TrpfsTer6)
c.1388del (p.Leu463TrpfsTer6)
c.1646del (p.Leu549TrpfsTer6)
c.7421del (p.Leu2474TrpfsTer6)
c.7340del (p.Leu2447TrpfsTer6)
n.6691del
c.7349del (p.Leu2450TrpfsTer6)
c.7226del (p.Leu2409TrpfsTer6)
n.1476del
c.4832del (p.Leu1611TrpfsTer6)
c.7445del (p.Leu2482TrpfsTer6)
c.5255del (p.Leu1752TrpfsTer6)
c.4931del (p.Leu1644TrpfsTer6)
 ClinVar dbSNP
11g.118503237T>ACA382805199KMT2Ac.7444T>A (p.Phe2482Ile)
c.7435T>A (p.Phe2479Ile)
c.1384T>A (p.Phe462Ile)
c.1642T>A (p.Phe548Ile)
c.7417T>A (p.Phe2473Ile)
c.7336T>A (p.Phe2446Ile)
n.6687T>A
c.7345T>A (p.Phe2449Ile)
c.7222T>A (p.Phe2408Ile)
n.1472T>A
c.4828T>A (p.Phe1610Ile)
c.7441T>A (p.Phe2481Ile)
c.5251T>A (p.Phe1751Ile)
c.4927T>A (p.Phe1643Ile)
11g.118503237T>CCA382805200KMT2Ac.7444T>C (p.Phe2482Leu)
c.7435T>C (p.Phe2479Leu)
c.1384T>C (p.Phe462Leu)
c.1642T>C (p.Phe548Leu)
c.7417T>C (p.Phe2473Leu)
c.7336T>C (p.Phe2446Leu)
n.6687T>C
c.7345T>C (p.Phe2449Leu)
c.7222T>C (p.Phe2408Leu)
n.1472T>C
c.4828T>C (p.Phe1610Leu)
c.7441T>C (p.Phe2481Leu)
c.5251T>C (p.Phe1751Leu)
c.4927T>C (p.Phe1643Leu)
11g.118503237T>GCA382805201KMT2Ac.7444T>G (p.Phe2482Val)
c.7435T>G (p.Phe2479Val)
c.1384T>G (p.Phe462Val)
c.1642T>G (p.Phe548Val)
c.7417T>G (p.Phe2473Val)
c.7336T>G (p.Phe2446Val)
n.6687T>G
c.7345T>G (p.Phe2449Val)
c.7222T>G (p.Phe2408Val)
n.1472T>G
c.4828T>G (p.Phe1610Val)
c.7441T>G (p.Phe2481Val)
c.5251T>G (p.Phe1751Val)
c.4927T>G (p.Phe1643Val)
11g.118503238T>ACA382805203KMT2Ac.7445T>A (p.Phe2482Tyr)
c.7436T>A (p.Phe2479Tyr)
c.1385T>A (p.Phe462Tyr)
c.1643T>A (p.Phe548Tyr)
c.7418T>A (p.Phe2473Tyr)
c.7337T>A (p.Phe2446Tyr)
n.6688T>A
c.7346T>A (p.Phe2449Tyr)
c.7223T>A (p.Phe2408Tyr)
n.1473T>A
c.4829T>A (p.Phe1610Tyr)
c.7442T>A (p.Phe2481Tyr)
c.5252T>A (p.Phe1751Tyr)
c.4928T>A (p.Phe1643Tyr)
11g.118503238T>CCA6304392KMT2Ac.7445T>C (p.Phe2482Ser)
c.7436T>C (p.Phe2479Ser)
c.1385T>C (p.Phe462Ser)
c.1643T>C (p.Phe548Ser)
c.7418T>C (p.Phe2473Ser)
c.7337T>C (p.Phe2446Ser)
n.6688T>C
c.7346T>C (p.Phe2449Ser)
c.7223T>C (p.Phe2408Ser)
n.1473T>C
c.4829T>C (p.Phe1610Ser)
c.7442T>C (p.Phe2481Ser)
c.5252T>C (p.Phe1751Ser)
c.4928T>C (p.Phe1643Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503238T>GCA382805205KMT2Ac.7445T>G (p.Phe2482Cys)
c.7436T>G (p.Phe2479Cys)
c.1385T>G (p.Phe462Cys)
c.1643T>G (p.Phe548Cys)
c.7418T>G (p.Phe2473Cys)
c.7337T>G (p.Phe2446Cys)
n.6688T>G
c.7346T>G (p.Phe2449Cys)
c.7223T>G (p.Phe2408Cys)
n.1473T>G
c.4829T>G (p.Phe1610Cys)
c.7442T>G (p.Phe2481Cys)
c.5252T>G (p.Phe1751Cys)
c.4928T>G (p.Phe1643Cys)
11g.118503238T=CA2003527636KMT2Ac.7445T= (p.Phe2482=)
c.7436T= (p.Phe2479=)
c.1385T= (p.Phe462=)
c.1643T= (p.Phe548=)
c.7418T= (p.Phe2473=)
c.7337T= (p.Phe2446=)
n.6688T=
c.7346T= (p.Phe2449=)
c.7223T= (p.Phe2408=)
n.1473T=
c.4829T= (p.Phe1610=)
c.7442T= (p.Phe2481=)
c.5252T= (p.Phe1751=)
c.4928T= (p.Phe1643=)
11g.118503239T>ACA382805208KMT2Ac.7446T>A (p.Phe2482Leu)
c.7437T>A (p.Phe2479Leu)
c.1386T>A (p.Phe462Leu)
c.1644T>A (p.Phe548Leu)
c.7419T>A (p.Phe2473Leu)
c.7338T>A (p.Phe2446Leu)
n.6689T>A
c.7347T>A (p.Phe2449Leu)
c.7224T>A (p.Phe2408Leu)
n.1474T>A
c.4830T>A (p.Phe1610Leu)
c.7443T>A (p.Phe2481Leu)
c.5253T>A (p.Phe1751Leu)
c.4929T>A (p.Phe1643Leu)
11g.118503239T>CCA477359341KMT2Ac.7446T>C (p.Phe2482=)
c.7437T>C (p.Phe2479=)
c.1386T>C (p.Phe462=)
c.1644T>C (p.Phe548=)
c.7419T>C (p.Phe2473=)
c.7338T>C (p.Phe2446=)
n.6689T>C
c.7347T>C (p.Phe2449=)
c.7224T>C (p.Phe2408=)
n.1474T>C
c.4830T>C (p.Phe1610=)
c.7443T>C (p.Phe2481=)
c.5253T>C (p.Phe1751=)
c.4929T>C (p.Phe1643=)
 ClinVar dbSNP
11g.118503239T>GCA382805209KMT2Ac.7446T>G (p.Phe2482Leu)
c.7437T>G (p.Phe2479Leu)
c.1386T>G (p.Phe462Leu)
c.1644T>G (p.Phe548Leu)
c.7419T>G (p.Phe2473Leu)
c.7338T>G (p.Phe2446Leu)
n.6689T>G
c.7347T>G (p.Phe2449Leu)
c.7224T>G (p.Phe2408Leu)
n.1474T>G
c.4830T>G (p.Phe1610Leu)
c.7443T>G (p.Phe2481Leu)
c.5253T>G (p.Phe1751Leu)
c.4929T>G (p.Phe1643Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.118503239T=CA2003527640KMT2Ac.7446T= (p.Phe2482=)
c.7437T= (p.Phe2479=)
c.1386T= (p.Phe462=)
c.1644T= (p.Phe548=)
c.7419T= (p.Phe2473=)
c.7338T= (p.Phe2446=)
n.6689T=
c.7347T= (p.Phe2449=)
c.7224T= (p.Phe2408=)
n.1474T=
c.4830T= (p.Phe1610=)
c.7443T= (p.Phe2481=)
c.5253T= (p.Phe1751=)
c.4929T= (p.Phe1643=)
11g.118503240T>ACA382805211KMT2Ac.7447T>A (p.Leu2483Met)
c.7438T>A (p.Leu2480Met)
c.1387T>A (p.Leu463Met)
c.1645T>A (p.Leu549Met)
c.7420T>A (p.Leu2474Met)
c.7339T>A (p.Leu2447Met)
n.6690T>A
c.7348T>A (p.Leu2450Met)
c.7225T>A (p.Leu2409Met)
n.1475T>A
c.4831T>A (p.Leu1611Met)
c.7444T>A (p.Leu2482Met)
c.5254T>A (p.Leu1752Met)
c.4930T>A (p.Leu1644Met)
11g.118503240T>CCA477359342KMT2Ac.7447T>C (p.Leu2483=)
c.7438T>C (p.Leu2480=)
c.1387T>C (p.Leu463=)
c.1645T>C (p.Leu549=)
c.7420T>C (p.Leu2474=)
c.7339T>C (p.Leu2447=)
n.6690T>C
c.7348T>C (p.Leu2450=)
c.7225T>C (p.Leu2409=)
n.1475T>C
c.4831T>C (p.Leu1611=)
c.7444T>C (p.Leu2482=)
c.5254T>C (p.Leu1752=)
c.4930T>C (p.Leu1644=)
11g.118503240T>GCA382805212KMT2Ac.7447T>G (p.Leu2483Val)
c.7438T>G (p.Leu2480Val)
c.1387T>G (p.Leu463Val)
c.1645T>G (p.Leu549Val)
c.7420T>G (p.Leu2474Val)
c.7339T>G (p.Leu2447Val)
n.6690T>G
c.7348T>G (p.Leu2450Val)
c.7225T>G (p.Leu2409Val)
n.1475T>G
c.4831T>G (p.Leu1611Val)
c.7444T>G (p.Leu2482Val)
c.5254T>G (p.Leu1752Val)
c.4930T>G (p.Leu1644Val)
11g.118503241T>ACA382805214KMT2Ac.7448T>A (p.Leu2483Ter)
c.7439T>A (p.Leu2480Ter)
c.1388T>A (p.Leu463Ter)
c.1646T>A (p.Leu549Ter)
c.7421T>A (p.Leu2474Ter)
c.7340T>A (p.Leu2447Ter)
n.6691T>A
c.7349T>A (p.Leu2450Ter)
c.7226T>A (p.Leu2409Ter)
n.1476T>A
c.4832T>A (p.Leu1611Ter)
c.7445T>A (p.Leu2482Ter)
c.5255T>A (p.Leu1752Ter)
c.4931T>A (p.Leu1644Ter)
11g.118503241T>CCA382805216KMT2Ac.7448T>C (p.Leu2483Ser)
c.7439T>C (p.Leu2480Ser)
c.1388T>C (p.Leu463Ser)
c.1646T>C (p.Leu549Ser)
c.7421T>C (p.Leu2474Ser)
c.7340T>C (p.Leu2447Ser)
n.6691T>C
c.7349T>C (p.Leu2450Ser)
c.7226T>C (p.Leu2409Ser)
n.1476T>C
c.4832T>C (p.Leu1611Ser)
c.7445T>C (p.Leu2482Ser)
c.5255T>C (p.Leu1752Ser)
c.4931T>C (p.Leu1644Ser)
11g.118503241T>GCA382805218KMT2Ac.7448T>G (p.Leu2483Trp)
c.7439T>G (p.Leu2480Trp)
c.1388T>G (p.Leu463Trp)
c.1646T>G (p.Leu549Trp)
c.7421T>G (p.Leu2474Trp)
c.7340T>G (p.Leu2447Trp)
n.6691T>G
c.7349T>G (p.Leu2450Trp)
c.7226T>G (p.Leu2409Trp)
n.1476T>G
c.4832T>G (p.Leu1611Trp)
c.7445T>G (p.Leu2482Trp)
c.5255T>G (p.Leu1752Trp)
c.4931T>G (p.Leu1644Trp)
 dbSNP
11g.118503242G>ACA477359343KMT2Ac.7449G>A (p.Leu2483=)
c.7440G>A (p.Leu2480=)
c.1389G>A (p.Leu463=)
c.1647G>A (p.Leu549=)
c.7422G>A (p.Leu2474=)
c.7341G>A (p.Leu2447=)
n.6692G>A
c.7350G>A (p.Leu2450=)
c.7227G>A (p.Leu2409=)
n.1477G>A
c.4833G>A (p.Leu1611=)
c.7446G>A (p.Leu2482=)
c.5256G>A (p.Leu1752=)
c.4932G>A (p.Leu1644=)
11g.118503242G>CCA382805219KMT2Ac.7449G>C (p.Leu2483Phe)
c.7440G>C (p.Leu2480Phe)
c.1389G>C (p.Leu463Phe)
c.1647G>C (p.Leu549Phe)
c.7422G>C (p.Leu2474Phe)
c.7341G>C (p.Leu2447Phe)
n.6692G>C
c.7350G>C (p.Leu2450Phe)
c.7227G>C (p.Leu2409Phe)
n.1477G>C
c.4833G>C (p.Leu1611Phe)
c.7446G>C (p.Leu2482Phe)
c.5256G>C (p.Leu1752Phe)
c.4932G>C (p.Leu1644Phe)
11g.118503242G>TCA382805220KMT2Ac.7449G>T (p.Leu2483Phe)
c.7440G>T (p.Leu2480Phe)
c.1389G>T (p.Leu463Phe)
c.1647G>T (p.Leu549Phe)
c.7422G>T (p.Leu2474Phe)
c.7341G>T (p.Leu2447Phe)
n.6692G>T
c.7350G>T (p.Leu2450Phe)
c.7227G>T (p.Leu2409Phe)
n.1477G>T
c.4833G>T (p.Leu1611Phe)
c.7446G>T (p.Leu2482Phe)
c.5256G>T (p.Leu1752Phe)
c.4932G>T (p.Leu1644Phe)
11g.118503243delCA645575344KMT2Ac.7450del (p.Glu2484AsnfsTer5)
c.7441del (p.Glu2481AsnfsTer5)
c.1390del (p.Glu464AsnfsTer5)
c.1648del (p.Glu550AsnfsTer5)
c.7423del (p.Glu2475AsnfsTer5)
c.7342del (p.Glu2448AsnfsTer5)
n.6693del
c.7351del (p.Glu2451AsnfsTer5)
c.7228del (p.Glu2410AsnfsTer5)
n.1478del
c.4834del (p.Glu1612AsnfsTer5)
c.7447del (p.Glu2483AsnfsTer5)
c.5257del (p.Glu1753AsnfsTer5)
c.4933del (p.Glu1645AsnfsTer5)
 COSMIC COSMIC
11g.118503242_118503250delCA942727672KMT2Ac.7449_7457del (p.Leu2483_Gly2486delinsPhe)
c.7440_7448del (p.Leu2480_Gly2483delinsPhe)
c.1389_1397del (p.Leu463_Gly466delinsPhe)
c.1647_1655del (p.Leu549_Gly552delinsPhe)
c.7422_7430del (p.Leu2474_Gly2477delinsPhe)
c.7341_7349del (p.Leu2447_Gly2450delinsPhe)
n.6692_6700del
c.7350_7358del (p.Leu2450_Gly2453delinsPhe)
c.7227_7235del (p.Leu2409_Gly2412delinsPhe)
n.1477_1485del
c.4833_4841del (p.Leu1611_Gly1614delinsPhe)
c.7446_7454del (p.Leu2482_Gly2485delinsPhe)
c.5256_5264del (p.Leu1752_Gly1755delinsPhe)
c.4932_4940del (p.Leu1644_Gly1647delinsPhe)
 gnomAD v3 gnomAD v4
11g.118503243G>ACA382805223KMT2Ac.7450G>A (p.Glu2484Lys)
c.7441G>A (p.Glu2481Lys)
c.1390G>A (p.Glu464Lys)
c.1648G>A (p.Glu550Lys)
c.7423G>A (p.Glu2475Lys)
c.7342G>A (p.Glu2448Lys)
n.6693G>A
c.7351G>A (p.Glu2451Lys)
c.7228G>A (p.Glu2410Lys)
n.1478G>A
c.4834G>A (p.Glu1612Lys)
c.7447G>A (p.Glu2483Lys)
c.5257G>A (p.Glu1753Lys)
c.4933G>A (p.Glu1645Lys)
11g.118503243G>CCA382805224KMT2Ac.7450G>C (p.Glu2484Gln)
c.7441G>C (p.Glu2481Gln)
c.1390G>C (p.Glu464Gln)
c.1648G>C (p.Glu550Gln)
c.7423G>C (p.Glu2475Gln)
c.7342G>C (p.Glu2448Gln)
n.6693G>C
c.7351G>C (p.Glu2451Gln)
c.7228G>C (p.Glu2410Gln)
n.1478G>C
c.4834G>C (p.Glu1612Gln)
c.7447G>C (p.Glu2483Gln)
c.5257G>C (p.Glu1753Gln)
c.4933G>C (p.Glu1645Gln)
11g.118503243G>TCA382805225KMT2Ac.7450G>T (p.Glu2484Ter)
c.7441G>T (p.Glu2481Ter)
c.1390G>T (p.Glu464Ter)
c.1648G>T (p.Glu550Ter)
c.7423G>T (p.Glu2475Ter)
c.7342G>T (p.Glu2448Ter)
n.6693G>T
c.7351G>T (p.Glu2451Ter)
c.7228G>T (p.Glu2410Ter)
n.1478G>T
c.4834G>T (p.Glu1612Ter)
c.7447G>T (p.Glu2483Ter)
c.5257G>T (p.Glu1753Ter)
c.4933G>T (p.Glu1645Ter)
11g.118503244A>CCA382805227KMT2Ac.7451A>C (p.Glu2484Ala)
c.7442A>C (p.Glu2481Ala)
c.1391A>C (p.Glu464Ala)
c.1649A>C (p.Glu550Ala)
c.7424A>C (p.Glu2475Ala)
c.7343A>C (p.Glu2448Ala)
n.6694A>C
c.7352A>C (p.Glu2451Ala)
c.7229A>C (p.Glu2410Ala)
n.1479A>C
c.4835A>C (p.Glu1612Ala)
c.7448A>C (p.Glu2483Ala)
c.5258A>C (p.Glu1753Ala)
c.4934A>C (p.Glu1645Ala)
11g.118503244A>GCA382805229KMT2Ac.7451A>G (p.Glu2484Gly)
c.7442A>G (p.Glu2481Gly)
c.1391A>G (p.Glu464Gly)
c.1649A>G (p.Glu550Gly)
c.7424A>G (p.Glu2475Gly)
c.7343A>G (p.Glu2448Gly)
n.6694A>G
c.7352A>G (p.Glu2451Gly)
c.7229A>G (p.Glu2410Gly)
n.1479A>G
c.4835A>G (p.Glu1612Gly)
c.7448A>G (p.Glu2483Gly)
c.5258A>G (p.Glu1753Gly)
c.4934A>G (p.Glu1645Gly)
11g.118503244A>TCA382805230KMT2Ac.7451A>T (p.Glu2484Val)
c.7442A>T (p.Glu2481Val)
c.1391A>T (p.Glu464Val)
c.1649A>T (p.Glu550Val)
c.7424A>T (p.Glu2475Val)
c.7343A>T (p.Glu2448Val)
n.6694A>T
c.7352A>T (p.Glu2451Val)
c.7229A>T (p.Glu2410Val)
n.1479A>T
c.4835A>T (p.Glu1612Val)
c.7448A>T (p.Glu2483Val)
c.5258A>T (p.Glu1753Val)
c.4934A>T (p.Glu1645Val)
11g.118503245A>CCA382805234KMT2Ac.7452A>C (p.Glu2484Asp)
c.7443A>C (p.Glu2481Asp)
c.1392A>C (p.Glu464Asp)
c.1650A>C (p.Glu550Asp)
c.7425A>C (p.Glu2475Asp)
c.7344A>C (p.Glu2448Asp)
n.6695A>C
c.7353A>C (p.Glu2451Asp)
c.7230A>C (p.Glu2410Asp)
n.1480A>C
c.4836A>C (p.Glu1612Asp)
c.7449A>C (p.Glu2483Asp)
c.5259A>C (p.Glu1753Asp)
c.4935A>C (p.Glu1645Asp)
11g.118503245A>GCA477359345KMT2Ac.7452A>G (p.Glu2484=)
c.7443A>G (p.Glu2481=)
c.1392A>G (p.Glu464=)
c.1650A>G (p.Glu550=)
c.7425A>G (p.Glu2475=)
c.7344A>G (p.Glu2448=)
n.6695A>G
c.7353A>G (p.Glu2451=)
c.7230A>G (p.Glu2410=)
n.1480A>G
c.4836A>G (p.Glu1612=)
c.7449A>G (p.Glu2483=)
c.5259A>G (p.Glu1753=)
c.4935A>G (p.Glu1645=)
11g.118503245A>TCA382805232KMT2Ac.7452A>T (p.Glu2484Asp)
c.7443A>T (p.Glu2481Asp)
c.1392A>T (p.Glu464Asp)
c.1650A>T (p.Glu550Asp)
c.7425A>T (p.Glu2475Asp)
c.7344A>T (p.Glu2448Asp)
n.6695A>T
c.7353A>T (p.Glu2451Asp)
c.7230A>T (p.Glu2410Asp)
n.1480A>T
c.4836A>T (p.Glu1612Asp)
c.7449A>T (p.Glu2483Asp)
c.5259A>T (p.Glu1753Asp)
c.4935A>T (p.Glu1645Asp)
11g.118503246C>ACA382805236KMT2Ac.7453C>A (p.Pro2485Thr)
c.7444C>A (p.Pro2482Thr)
c.1393C>A (p.Pro465Thr)
c.1651C>A (p.Pro551Thr)
c.7426C>A (p.Pro2476Thr)
c.7345C>A (p.Pro2449Thr)
n.6696C>A
c.7354C>A (p.Pro2452Thr)
c.7231C>A (p.Pro2411Thr)
n.1481C>A
c.4837C>A (p.Pro1613Thr)
c.7450C>A (p.Pro2484Thr)
c.5260C>A (p.Pro1754Thr)
c.4936C>A (p.Pro1646Thr)
 ClinVar dbSNP gnomAD v4
11g.118503246C>GCA382805238KMT2Ac.7453C>G (p.Pro2485Ala)
c.7444C>G (p.Pro2482Ala)
c.1393C>G (p.Pro465Ala)
c.1651C>G (p.Pro551Ala)
c.7426C>G (p.Pro2476Ala)
c.7345C>G (p.Pro2449Ala)
n.6696C>G
c.7354C>G (p.Pro2452Ala)
c.7231C>G (p.Pro2411Ala)
n.1481C>G
c.4837C>G (p.Pro1613Ala)
c.7450C>G (p.Pro2484Ala)
c.5260C>G (p.Pro1754Ala)
c.4936C>G (p.Pro1646Ala)
 ClinVar dbSNP
11g.118503246C>TCA382805239KMT2Ac.7453C>T (p.Pro2485Ser)
c.7444C>T (p.Pro2482Ser)
c.1393C>T (p.Pro465Ser)
c.1651C>T (p.Pro551Ser)
c.7426C>T (p.Pro2476Ser)
c.7345C>T (p.Pro2449Ser)
n.6696C>T
c.7354C>T (p.Pro2452Ser)
c.7231C>T (p.Pro2411Ser)
n.1481C>T
c.4837C>T (p.Pro1613Ser)
c.7450C>T (p.Pro2484Ser)
c.5260C>T (p.Pro1754Ser)
c.4936C>T (p.Pro1646Ser)
 dbSNP gnomAD v4
11g.118503247C>ACA382805240KMT2Ac.7454C>A (p.Pro2485His)
c.7445C>A (p.Pro2482His)
c.1394C>A (p.Pro465His)
c.1652C>A (p.Pro551His)
c.7427C>A (p.Pro2476His)
c.7346C>A (p.Pro2449His)
n.6697C>A
c.7355C>A (p.Pro2452His)
c.7232C>A (p.Pro2411His)
n.1482C>A
c.4838C>A (p.Pro1613His)
c.7451C>A (p.Pro2484His)
c.5261C>A (p.Pro1754His)
c.4937C>A (p.Pro1646His)
11g.118503247C>GCA382805241KMT2Ac.7454C>G (p.Pro2485Arg)
c.7445C>G (p.Pro2482Arg)
c.1394C>G (p.Pro465Arg)
c.1652C>G (p.Pro551Arg)
c.7427C>G (p.Pro2476Arg)
c.7346C>G (p.Pro2449Arg)
n.6697C>G
c.7355C>G (p.Pro2452Arg)
c.7232C>G (p.Pro2411Arg)
n.1482C>G
c.4838C>G (p.Pro1613Arg)
c.7451C>G (p.Pro2484Arg)
c.5261C>G (p.Pro1754Arg)
c.4937C>G (p.Pro1646Arg)
11g.118503247C>TCA382805242KMT2Ac.7454C>T (p.Pro2485Leu)
c.7445C>T (p.Pro2482Leu)
c.1394C>T (p.Pro465Leu)
c.1652C>T (p.Pro551Leu)
c.7427C>T (p.Pro2476Leu)
c.7346C>T (p.Pro2449Leu)
n.6697C>T
c.7355C>T (p.Pro2452Leu)
c.7232C>T (p.Pro2411Leu)
n.1482C>T
c.4838C>T (p.Pro1613Leu)
c.7451C>T (p.Pro2484Leu)
c.5261C>T (p.Pro1754Leu)
c.4937C>T (p.Pro1646Leu)
11g.118503248T>ACA477359347KMT2Ac.7455T>A (p.Pro2485=)
c.7446T>A (p.Pro2482=)
c.1395T>A (p.Pro465=)
c.1653T>A (p.Pro551=)
c.7428T>A (p.Pro2476=)
c.7347T>A (p.Pro2449=)
n.6698T>A
c.7356T>A (p.Pro2452=)
c.7233T>A (p.Pro2411=)
n.1483T>A
c.4839T>A (p.Pro1613=)
c.7452T>A (p.Pro2484=)
c.5262T>A (p.Pro1754=)
c.4938T>A (p.Pro1646=)
11g.118503248T>CCA477359349KMT2Ac.7455T>C (p.Pro2485=)
c.7446T>C (p.Pro2482=)
c.1395T>C (p.Pro465=)
c.1653T>C (p.Pro551=)
c.7428T>C (p.Pro2476=)
c.7347T>C (p.Pro2449=)
n.6698T>C
c.7356T>C (p.Pro2452=)
c.7233T>C (p.Pro2411=)
n.1483T>C
c.4839T>C (p.Pro1613=)
c.7452T>C (p.Pro2484=)
c.5262T>C (p.Pro1754=)
c.4938T>C (p.Pro1646=)
11g.118503248T>GCA477359351KMT2Ac.7455T>G (p.Pro2485=)
c.7446T>G (p.Pro2482=)
c.1395T>G (p.Pro465=)
c.1653T>G (p.Pro551=)
c.7428T>G (p.Pro2476=)
c.7347T>G (p.Pro2449=)
n.6698T>G
c.7356T>G (p.Pro2452=)
c.7233T>G (p.Pro2411=)
n.1483T>G
c.4839T>G (p.Pro1613=)
c.7452T>G (p.Pro2484=)
c.5262T>G (p.Pro1754=)
c.4938T>G (p.Pro1646=)
11g.118503249G>ACA382805244KMT2Ac.7456G>A (p.Gly2486Ser)
c.7447G>A (p.Gly2483Ser)
c.1396G>A (p.Gly466Ser)
c.1654G>A (p.Gly552Ser)
c.7429G>A (p.Gly2477Ser)
c.7348G>A (p.Gly2450Ser)
n.6699G>A
c.7357G>A (p.Gly2453Ser)
c.7234G>A (p.Gly2412Ser)
n.1484G>A
c.4840G>A (p.Gly1614Ser)
c.7453G>A (p.Gly2485Ser)
c.5263G>A (p.Gly1755Ser)
c.4939G>A (p.Gly1647Ser)
 dbSNP gnomAD v4
11g.118503249G>CCA382805245KMT2Ac.7456G>C (p.Gly2486Arg)
c.7447G>C (p.Gly2483Arg)
c.1396G>C (p.Gly466Arg)
c.1654G>C (p.Gly552Arg)
c.7429G>C (p.Gly2477Arg)
c.7348G>C (p.Gly2450Arg)
n.6699G>C
c.7357G>C (p.Gly2453Arg)
c.7234G>C (p.Gly2412Arg)
n.1484G>C
c.4840G>C (p.Gly1614Arg)
c.7453G>C (p.Gly2485Arg)
c.5263G>C (p.Gly1755Arg)
c.4939G>C (p.Gly1647Arg)
11g.118503249G>TCA382805247KMT2Ac.7456G>T (p.Gly2486Cys)
c.7447G>T (p.Gly2483Cys)
c.1396G>T (p.Gly466Cys)
c.1654G>T (p.Gly552Cys)
c.7429G>T (p.Gly2477Cys)
c.7348G>T (p.Gly2450Cys)
n.6699G>T
c.7357G>T (p.Gly2453Cys)
c.7234G>T (p.Gly2412Cys)
n.1484G>T
c.4840G>T (p.Gly1614Cys)
c.7453G>T (p.Gly2485Cys)
c.5263G>T (p.Gly1755Cys)
c.4939G>T (p.Gly1647Cys)
11g.118503250G>ACA382805248KMT2Ac.7457G>A (p.Gly2486Asp)
c.7448G>A (p.Gly2483Asp)
c.1397G>A (p.Gly466Asp)
c.1655G>A (p.Gly552Asp)
c.7430G>A (p.Gly2477Asp)
c.7349G>A (p.Gly2450Asp)
n.6700G>A
c.7358G>A (p.Gly2453Asp)
c.7235G>A (p.Gly2412Asp)
n.1485G>A
c.4841G>A (p.Gly1614Asp)
c.7454G>A (p.Gly2485Asp)
c.5264G>A (p.Gly1755Asp)
c.4940G>A (p.Gly1647Asp)
11g.118503250G>CCA382805249KMT2Ac.7457G>C (p.Gly2486Ala)
c.7448G>C (p.Gly2483Ala)
c.1397G>C (p.Gly466Ala)
c.1655G>C (p.Gly552Ala)
c.7430G>C (p.Gly2477Ala)
c.7349G>C (p.Gly2450Ala)
n.6700G>C
c.7358G>C (p.Gly2453Ala)
c.7235G>C (p.Gly2412Ala)
n.1485G>C
c.4841G>C (p.Gly1614Ala)
c.7454G>C (p.Gly2485Ala)
c.5264G>C (p.Gly1755Ala)
c.4940G>C (p.Gly1647Ala)
11g.118503250G>TCA382805250KMT2Ac.7457G>T (p.Gly2486Val)
c.7448G>T (p.Gly2483Val)
c.1397G>T (p.Gly466Val)
c.1655G>T (p.Gly552Val)
c.7430G>T (p.Gly2477Val)
c.7349G>T (p.Gly2450Val)
n.6700G>T
c.7358G>T (p.Gly2453Val)
c.7235G>T (p.Gly2412Val)
n.1485G>T
c.4841G>T (p.Gly1614Val)
c.7454G>T (p.Gly2485Val)
c.5264G>T (p.Gly1755Val)
c.4940G>T (p.Gly1647Val)
11g.118503251T>ACA477359352KMT2Ac.7458T>A (p.Gly2486=)
c.7449T>A (p.Gly2483=)
c.1398T>A (p.Gly466=)
c.1656T>A (p.Gly552=)
c.7431T>A (p.Gly2477=)
c.7350T>A (p.Gly2450=)
n.6701T>A
c.7359T>A (p.Gly2453=)
c.7236T>A (p.Gly2412=)
n.1486T>A
c.4842T>A (p.Gly1614=)
c.7455T>A (p.Gly2485=)
c.5265T>A (p.Gly1755=)
c.4941T>A (p.Gly1647=)
11g.118503251T>CCA477359354KMT2Ac.7458T>C (p.Gly2486=)
c.7449T>C (p.Gly2483=)
c.1398T>C (p.Gly466=)
c.1656T>C (p.Gly552=)
c.7431T>C (p.Gly2477=)
c.7350T>C (p.Gly2450=)
n.6701T>C
c.7359T>C (p.Gly2453=)
c.7236T>C (p.Gly2412=)
n.1486T>C
c.4842T>C (p.Gly1614=)
c.7455T>C (p.Gly2485=)
c.5265T>C (p.Gly1755=)
c.4941T>C (p.Gly1647=)
11g.118503251T>GCA477359353KMT2Ac.7458T>G (p.Gly2486=)
c.7449T>G (p.Gly2483=)
c.1398T>G (p.Gly466=)
c.1656T>G (p.Gly552=)
c.7431T>G (p.Gly2477=)
c.7350T>G (p.Gly2450=)
n.6701T>G
c.7359T>G (p.Gly2453=)
c.7236T>G (p.Gly2412=)
n.1486T>G
c.4842T>G (p.Gly1614=)
c.7455T>G (p.Gly2485=)
c.5265T>G (p.Gly1755=)
c.4941T>G (p.Gly1647=)
11g.118503251_118503252insTTTTTTTTTCA942727684KMT2Ac.7458_7459insTTTTTTTTT (p.Gly2486_Gln2487insPhePhePhe)
c.7449_7450insTTTTTTTTT (p.Gly2483_Gln2484insPhePhePhe)
c.1398_1399insTTTTTTTTT (p.Gly466_Gln467insPhePhePhe)
c.1656_1657insTTTTTTTTT (p.Gly552_Gln553insPhePhePhe)
c.7431_7432insTTTTTTTTT (p.Gly2477_Gln2478insPhePhePhe)
c.7350_7351insTTTTTTTTT (p.Gly2450_Gln2451insPhePhePhe)
n.6701_6702insTTTTTTTTT
c.7359_7360insTTTTTTTTT (p.Gly2453_Gln2454insPhePhePhe)
c.7236_7237insTTTTTTTTT (p.Gly2412_Gln2413insPhePhePhe)
n.1486_1487insTTTTTTTTT
c.4842_4843insTTTTTTTTT (p.Gly1614_Gln1615insPhePhePhe)
c.7455_7456insTTTTTTTTT (p.Gly2485_Gln2486insPhePhePhe)
c.5265_5266insTTTTTTTTT (p.Gly1755_Gln1756insPhePhePhe)
c.4941_4942insTTTTTTTTT (p.Gly1647_Gln1648insPhePhePhe)
 gnomAD v3 gnomAD v4
11g.118503252C>ACA382805254KMT2Ac.7459C>A (p.Gln2487Lys)
c.7450C>A (p.Gln2484Lys)
c.1399C>A (p.Gln467Lys)
c.1657C>A (p.Gln553Lys)
c.7432C>A (p.Gln2478Lys)
c.7351C>A (p.Gln2451Lys)
n.6702C>A
c.7360C>A (p.Gln2454Lys)
c.7237C>A (p.Gln2413Lys)
n.1487C>A
c.4843C>A (p.Gln1615Lys)
c.7456C>A (p.Gln2486Lys)
c.5266C>A (p.Gln1756Lys)
c.4942C>A (p.Gln1648Lys)
 gnomAD v4
11g.118503252C=CA2003527644KMT2Ac.7459C= (p.Gln2487=)
c.7450C= (p.Gln2484=)
c.1399C= (p.Gln467=)
c.1657C= (p.Gln553=)
c.7432C= (p.Gln2478=)
c.7351C= (p.Gln2451=)
n.6702C=
c.7360C= (p.Gln2454=)
c.7237C= (p.Gln2413=)
n.1487C=
c.4843C= (p.Gln1615=)
c.7456C= (p.Gln2486=)
c.5266C= (p.Gln1756=)
c.4942C= (p.Gln1648=)
11g.118503252C>GCA6304393KMT2Ac.7459C>G (p.Gln2487Glu)
c.7450C>G (p.Gln2484Glu)
c.1399C>G (p.Gln467Glu)
c.1657C>G (p.Gln553Glu)
c.7432C>G (p.Gln2478Glu)
c.7351C>G (p.Gln2451Glu)
n.6702C>G
c.7360C>G (p.Gln2454Glu)
c.7237C>G (p.Gln2413Glu)
n.1487C>G
c.4843C>G (p.Gln1615Glu)
c.7456C>G (p.Gln2486Glu)
c.5266C>G (p.Gln1756Glu)
c.4942C>G (p.Gln1648Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503252C>TCA382805252KMT2Ac.7459C>T (p.Gln2487Ter)
c.7450C>T (p.Gln2484Ter)
c.1399C>T (p.Gln467Ter)
c.1657C>T (p.Gln553Ter)
c.7432C>T (p.Gln2478Ter)
c.7351C>T (p.Gln2451Ter)
n.6702C>T
c.7360C>T (p.Gln2454Ter)
c.7237C>T (p.Gln2413Ter)
n.1487C>T
c.4843C>T (p.Gln1615Ter)
c.7456C>T (p.Gln2486Ter)
c.5266C>T (p.Gln1756Ter)
c.4942C>T (p.Gln1648Ter)
11g.118503253A>CCA382805256KMT2Ac.7460A>C (p.Gln2487Pro)
c.7451A>C (p.Gln2484Pro)
c.1400A>C (p.Gln467Pro)
c.1658A>C (p.Gln553Pro)
c.7433A>C (p.Gln2478Pro)
c.7352A>C (p.Gln2451Pro)
n.6703A>C
c.7361A>C (p.Gln2454Pro)
c.7238A>C (p.Gln2413Pro)
n.1488A>C
c.4844A>C (p.Gln1615Pro)
c.7457A>C (p.Gln2486Pro)
c.5267A>C (p.Gln1756Pro)
c.4943A>C (p.Gln1648Pro)
11g.118503253A>GCA382805260KMT2Ac.7460A>G (p.Gln2487Arg)
c.7451A>G (p.Gln2484Arg)
c.1400A>G (p.Gln467Arg)
c.1658A>G (p.Gln553Arg)
c.7433A>G (p.Gln2478Arg)
c.7352A>G (p.Gln2451Arg)
n.6703A>G
c.7361A>G (p.Gln2454Arg)
c.7238A>G (p.Gln2413Arg)
n.1488A>G
c.4844A>G (p.Gln1615Arg)
c.7457A>G (p.Gln2486Arg)
c.5267A>G (p.Gln1756Arg)
c.4943A>G (p.Gln1648Arg)
11g.118503253A>TCA382805258KMT2Ac.7460A>T (p.Gln2487Leu)
c.7451A>T (p.Gln2484Leu)
c.1400A>T (p.Gln467Leu)
c.1658A>T (p.Gln553Leu)
c.7433A>T (p.Gln2478Leu)
c.7352A>T (p.Gln2451Leu)
n.6703A>T
c.7361A>T (p.Gln2454Leu)
c.7238A>T (p.Gln2413Leu)
n.1488A>T
c.4844A>T (p.Gln1615Leu)
c.7457A>T (p.Gln2486Leu)
c.5267A>T (p.Gln1756Leu)
c.4943A>T (p.Gln1648Leu)
11g.118503254G>ACA477359356KMT2Ac.7461G>A (p.Gln2487=)
c.7452G>A (p.Gln2484=)
c.1401G>A (p.Gln467=)
c.1659G>A (p.Gln553=)
c.7434G>A (p.Gln2478=)
c.7353G>A (p.Gln2451=)
n.6704G>A
c.7362G>A (p.Gln2454=)
c.7239G>A (p.Gln2413=)
n.1489G>A
c.4845G>A (p.Gln1615=)
c.7458G>A (p.Gln2486=)
c.5268G>A (p.Gln1756=)
c.4944G>A (p.Gln1648=)
 dbSNP
11g.118503254G>CCA382805261KMT2Ac.7461G>C (p.Gln2487His)
c.7452G>C (p.Gln2484His)
c.1401G>C (p.Gln467His)
c.1659G>C (p.Gln553His)
c.7434G>C (p.Gln2478His)
c.7353G>C (p.Gln2451His)
n.6704G>C
c.7362G>C (p.Gln2454His)
c.7239G>C (p.Gln2413His)
n.1489G>C
c.4845G>C (p.Gln1615His)
c.7458G>C (p.Gln2486His)
c.5268G>C (p.Gln1756His)
c.4944G>C (p.Gln1648His)
11g.118503254G=CA2003527649KMT2Ac.7461G= (p.Gln2487=)
c.7452G= (p.Gln2484=)
c.1401G= (p.Gln467=)
c.1659G= (p.Gln553=)
c.7434G= (p.Gln2478=)
c.7353G= (p.Gln2451=)
n.6704G=
c.7362G= (p.Gln2454=)
c.7239G= (p.Gln2413=)
n.1489G=
c.4845G= (p.Gln1615=)
c.7458G= (p.Gln2486=)
c.5268G= (p.Gln1756=)
c.4944G= (p.Gln1648=)
11g.118503254G>TCA382805263KMT2Ac.7461G>T (p.Gln2487His)
c.7452G>T (p.Gln2484His)
c.1401G>T (p.Gln467His)
c.1659G>T (p.Gln553His)
c.7434G>T (p.Gln2478His)
c.7353G>T (p.Gln2451His)
n.6704G>T
c.7362G>T (p.Gln2454His)
c.7239G>T (p.Gln2413His)
n.1489G>T
c.4845G>T (p.Gln1615His)
c.7458G>T (p.Gln2486His)
c.5268G>T (p.Gln1756His)
c.4944G>T (p.Gln1648His)
 gnomAD v4
11g.118503255G>ACA382805265KMT2Ac.7462G>A (p.Val2488Met)
c.7453G>A (p.Val2485Met)
c.1402G>A (p.Val468Met)
c.1660G>A (p.Val554Met)
c.7435G>A (p.Val2479Met)
c.7354G>A (p.Val2452Met)
n.6705G>A
c.7363G>A (p.Val2455Met)
c.7240G>A (p.Val2414Met)
n.1490G>A
c.4846G>A (p.Val1616Met)
c.7459G>A (p.Val2487Met)
c.5269G>A (p.Val1757Met)
c.4945G>A (p.Val1649Met)
 ClinVar gnomAD v4
11g.118503255G>CCA382805267KMT2Ac.7462G>C (p.Val2488Leu)
c.7453G>C (p.Val2485Leu)
c.1402G>C (p.Val468Leu)
c.1660G>C (p.Val554Leu)
c.7435G>C (p.Val2479Leu)
c.7354G>C (p.Val2452Leu)
n.6705G>C
c.7363G>C (p.Val2455Leu)
c.7240G>C (p.Val2414Leu)
n.1490G>C
c.4846G>C (p.Val1616Leu)
c.7459G>C (p.Val2487Leu)
c.5269G>C (p.Val1757Leu)
c.4945G>C (p.Val1649Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.118503255G=CA2003527652KMT2Ac.7462G= (p.Val2488=)
c.7453G= (p.Val2485=)
c.1402G= (p.Val468=)
c.1660G= (p.Val554=)
c.7435G= (p.Val2479=)
c.7354G= (p.Val2452=)
n.6705G=
c.7363G= (p.Val2455=)
c.7240G= (p.Val2414=)
n.1490G=
c.4846G= (p.Val1616=)
c.7459G= (p.Val2487=)
c.5269G= (p.Val1757=)
c.4945G= (p.Val1649=)
11g.118503255G>TCA382805269KMT2Ac.7462G>T (p.Val2488Leu)
c.7453G>T (p.Val2485Leu)
c.1402G>T (p.Val468Leu)
c.1660G>T (p.Val554Leu)
c.7435G>T (p.Val2479Leu)
c.7354G>T (p.Val2452Leu)
n.6705G>T
c.7363G>T (p.Val2455Leu)
c.7240G>T (p.Val2414Leu)
n.1490G>T
c.4846G>T (p.Val1616Leu)
c.7459G>T (p.Val2487Leu)
c.5269G>T (p.Val1757Leu)
c.4945G>T (p.Val1649Leu)
 gnomAD v4
11g.118503256T>ACA382805273KMT2Ac.7463T>A (p.Val2488Glu)
c.7454T>A (p.Val2485Glu)
c.1403T>A (p.Val468Glu)
c.1661T>A (p.Val554Glu)
c.7436T>A (p.Val2479Glu)
c.7355T>A (p.Val2452Glu)
n.6706T>A
c.7364T>A (p.Val2455Glu)
c.7241T>A (p.Val2414Glu)
n.1491T>A
c.4847T>A (p.Val1616Glu)
c.7460T>A (p.Val2487Glu)
c.5270T>A (p.Val1757Glu)
c.4946T>A (p.Val1649Glu)
 dbSNP
11g.118503256T>CCA382805272KMT2Ac.7463T>C (p.Val2488Ala)
c.7454T>C (p.Val2485Ala)
c.1403T>C (p.Val468Ala)
c.1661T>C (p.Val554Ala)
c.7436T>C (p.Val2479Ala)
c.7355T>C (p.Val2452Ala)
n.6706T>C
c.7364T>C (p.Val2455Ala)
c.7241T>C (p.Val2414Ala)
n.1491T>C
c.4847T>C (p.Val1616Ala)
c.7460T>C (p.Val2487Ala)
c.5270T>C (p.Val1757Ala)
c.4946T>C (p.Val1649Ala)
11g.118503256T>GCA382805271KMT2Ac.7463T>G (p.Val2488Gly)
c.7454T>G (p.Val2485Gly)
c.1403T>G (p.Val468Gly)
c.1661T>G (p.Val554Gly)
c.7436T>G (p.Val2479Gly)
c.7355T>G (p.Val2452Gly)
n.6706T>G
c.7364T>G (p.Val2455Gly)
c.7241T>G (p.Val2414Gly)
n.1491T>G
c.4847T>G (p.Val1616Gly)
c.7460T>G (p.Val2487Gly)
c.5270T>G (p.Val1757Gly)
c.4946T>G (p.Val1649Gly)
11g.118503257G>ACA477359357KMT2Ac.7464G>A (p.Val2488=)
c.7455G>A (p.Val2485=)
c.1404G>A (p.Val468=)
c.1662G>A (p.Val554=)
c.7437G>A (p.Val2479=)
c.7356G>A (p.Val2452=)
n.6707G>A
c.7365G>A (p.Val2455=)
c.7242G>A (p.Val2414=)
n.1492G>A
c.4848G>A (p.Val1616=)
c.7461G>A (p.Val2487=)
c.5271G>A (p.Val1757=)
c.4947G>A (p.Val1649=)
 gnomAD v4
11g.118503257G>CCA477359358KMT2Ac.7464G>C (p.Val2488=)
c.7455G>C (p.Val2485=)
c.1404G>C (p.Val468=)
c.1662G>C (p.Val554=)
c.7437G>C (p.Val2479=)
c.7356G>C (p.Val2452=)
n.6707G>C
c.7365G>C (p.Val2455=)
c.7242G>C (p.Val2414=)
n.1492G>C
c.4848G>C (p.Val1616=)
c.7461G>C (p.Val2487=)
c.5271G>C (p.Val1757=)
c.4947G>C (p.Val1649=)
11g.118503257G>TCA477359359KMT2Ac.7464G>T (p.Val2488=)
c.7455G>T (p.Val2485=)
c.1404G>T (p.Val468=)
c.1662G>T (p.Val554=)
c.7437G>T (p.Val2479=)
c.7356G>T (p.Val2452=)
n.6707G>T
c.7365G>T (p.Val2455=)
c.7242G>T (p.Val2414=)
n.1492G>T
c.4848G>T (p.Val1616=)
c.7461G>T (p.Val2487=)
c.5271G>T (p.Val1757=)
c.4947G>T (p.Val1649=)
11g.118503258A>CCA382805276KMT2Ac.7465A>C (p.Thr2489Pro)
c.7456A>C (p.Thr2486Pro)
c.1405A>C (p.Thr469Pro)
c.1663A>C (p.Thr555Pro)
c.7438A>C (p.Thr2480Pro)
c.7357A>C (p.Thr2453Pro)
n.6708A>C
c.7366A>C (p.Thr2456Pro)
c.7243A>C (p.Thr2415Pro)
n.1493A>C
c.4849A>C (p.Thr1617Pro)
c.7462A>C (p.Thr2488Pro)
c.5272A>C (p.Thr1758Pro)
c.4948A>C (p.Thr1650Pro)
11g.118503258A>GCA382805277KMT2Ac.7465A>G (p.Thr2489Ala)
c.7456A>G (p.Thr2486Ala)
c.1405A>G (p.Thr469Ala)
c.1663A>G (p.Thr555Ala)
c.7438A>G (p.Thr2480Ala)
c.7357A>G (p.Thr2453Ala)
n.6708A>G
c.7366A>G (p.Thr2456Ala)
c.7243A>G (p.Thr2415Ala)
n.1493A>G
c.4849A>G (p.Thr1617Ala)
c.7462A>G (p.Thr2488Ala)
c.5272A>G (p.Thr1758Ala)
c.4948A>G (p.Thr1650Ala)
11g.118503258A>TCA382805278KMT2Ac.7465A>T (p.Thr2489Ser)
c.7456A>T (p.Thr2486Ser)
c.1405A>T (p.Thr469Ser)
c.1663A>T (p.Thr555Ser)
c.7438A>T (p.Thr2480Ser)
c.7357A>T (p.Thr2453Ser)
n.6708A>T
c.7366A>T (p.Thr2456Ser)
c.7243A>T (p.Thr2415Ser)
n.1493A>T
c.4849A>T (p.Thr1617Ser)
c.7462A>T (p.Thr2488Ser)
c.5272A>T (p.Thr1758Ser)
c.4948A>T (p.Thr1650Ser)
11g.118503259C>ACA382805280KMT2Ac.7466C>A (p.Thr2489Lys)
c.7457C>A (p.Thr2486Lys)
c.1406C>A (p.Thr469Lys)
c.1664C>A (p.Thr555Lys)
c.7439C>A (p.Thr2480Lys)
c.7358C>A (p.Thr2453Lys)
n.6709C>A
c.7367C>A (p.Thr2456Lys)
c.7244C>A (p.Thr2415Lys)
n.1494C>A
c.4850C>A (p.Thr1617Lys)
c.7463C>A (p.Thr2488Lys)
c.5273C>A (p.Thr1758Lys)
c.4949C>A (p.Thr1650Lys)
11g.118503259C=CA2003527656KMT2Ac.7466C= (p.Thr2489=)
c.7457C= (p.Thr2486=)
c.1406C= (p.Thr469=)
c.1664C= (p.Thr555=)
c.7439C= (p.Thr2480=)
c.7358C= (p.Thr2453=)
n.6709C=
c.7367C= (p.Thr2456=)
c.7244C= (p.Thr2415=)
n.1494C=
c.4850C= (p.Thr1617=)
c.7463C= (p.Thr2488=)
c.5273C= (p.Thr1758=)
c.4949C= (p.Thr1650=)
11g.118503259C>GCA382805282KMT2Ac.7466C>G (p.Thr2489Arg)
c.7457C>G (p.Thr2486Arg)
c.1406C>G (p.Thr469Arg)
c.1664C>G (p.Thr555Arg)
c.7439C>G (p.Thr2480Arg)
c.7358C>G (p.Thr2453Arg)
n.6709C>G
c.7367C>G (p.Thr2456Arg)
c.7244C>G (p.Thr2415Arg)
n.1494C>G
c.4850C>G (p.Thr1617Arg)
c.7463C>G (p.Thr2488Arg)
c.5273C>G (p.Thr1758Arg)
c.4949C>G (p.Thr1650Arg)
11g.118503259C>TCA6304394KMT2Ac.7466C>T (p.Thr2489Ile)
c.7457C>T (p.Thr2486Ile)
c.1406C>T (p.Thr469Ile)
c.1664C>T (p.Thr555Ile)
c.7439C>T (p.Thr2480Ile)
c.7358C>T (p.Thr2453Ile)
n.6709C>T
c.7367C>T (p.Thr2456Ile)
c.7244C>T (p.Thr2415Ile)
n.1494C>T
c.4850C>T (p.Thr1617Ile)
c.7463C>T (p.Thr2488Ile)
c.5273C>T (p.Thr1758Ile)
c.4949C>T (p.Thr1650Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503260A>CCA477359363KMT2Ac.7467A>C (p.Thr2489=)
c.7458A>C (p.Thr2486=)
c.1407A>C (p.Thr469=)
c.1665A>C (p.Thr555=)
c.7440A>C (p.Thr2480=)
c.7359A>C (p.Thr2453=)
n.6710A>C
c.7368A>C (p.Thr2456=)
c.7245A>C (p.Thr2415=)
n.1495A>C
c.4851A>C (p.Thr1617=)
c.7464A>C (p.Thr2488=)
c.5274A>C (p.Thr1758=)
c.4950A>C (p.Thr1650=)
11g.118503260A>GCA477359361KMT2Ac.7467A>G (p.Thr2489=)
c.7458A>G (p.Thr2486=)
c.1407A>G (p.Thr469=)
c.1665A>G (p.Thr555=)
c.7440A>G (p.Thr2480=)
c.7359A>G (p.Thr2453=)
n.6710A>G
c.7368A>G (p.Thr2456=)
c.7245A>G (p.Thr2415=)
n.1495A>G
c.4851A>G (p.Thr1617=)
c.7464A>G (p.Thr2488=)
c.5274A>G (p.Thr1758=)
c.4950A>G (p.Thr1650=)
11g.118503260A>TCA477359362KMT2Ac.7467A>T (p.Thr2489=)
c.7458A>T (p.Thr2486=)
c.1407A>T (p.Thr469=)
c.1665A>T (p.Thr555=)
c.7440A>T (p.Thr2480=)
c.7359A>T (p.Thr2453=)
n.6710A>T
c.7368A>T (p.Thr2456=)
c.7245A>T (p.Thr2415=)
n.1495A>T
c.4851A>T (p.Thr1617=)
c.7464A>T (p.Thr2488=)
c.5274A>T (p.Thr1758=)
c.4950A>T (p.Thr1650=)
11g.118503261A>CCA382805287KMT2Ac.7468A>C (p.Thr2490Pro)
c.7459A>C (p.Thr2487Pro)
c.1408A>C (p.Thr470Pro)
c.1666A>C (p.Thr556Pro)
c.7441A>C (p.Thr2481Pro)
c.7360A>C (p.Thr2454Pro)
n.6711A>C
c.7369A>C (p.Thr2457Pro)
c.7246A>C (p.Thr2416Pro)
n.1496A>C
c.4852A>C (p.Thr1618Pro)
c.7465A>C (p.Thr2489Pro)
c.5275A>C (p.Thr1759Pro)
c.4951A>C (p.Thr1651Pro)
11g.118503261A>GCA382805284KMT2Ac.7468A>G (p.Thr2490Ala)
c.7459A>G (p.Thr2487Ala)
c.1408A>G (p.Thr470Ala)
c.1666A>G (p.Thr556Ala)
c.7441A>G (p.Thr2481Ala)
c.7360A>G (p.Thr2454Ala)
n.6711A>G
c.7369A>G (p.Thr2457Ala)
c.7246A>G (p.Thr2416Ala)
n.1496A>G
c.4852A>G (p.Thr1618Ala)
c.7465A>G (p.Thr2489Ala)
c.5275A>G (p.Thr1759Ala)
c.4951A>G (p.Thr1651Ala)
 gnomAD v4
11g.118503261A>TCA382805285KMT2Ac.7468A>T (p.Thr2490Ser)
c.7459A>T (p.Thr2487Ser)
c.1408A>T (p.Thr470Ser)
c.1666A>T (p.Thr556Ser)
c.7441A>T (p.Thr2481Ser)
c.7360A>T (p.Thr2454Ser)
n.6711A>T
c.7369A>T (p.Thr2457Ser)
c.7246A>T (p.Thr2416Ser)
n.1496A>T
c.4852A>T (p.Thr1618Ser)
c.7465A>T (p.Thr2489Ser)
c.5275A>T (p.Thr1759Ser)
c.4951A>T (p.Thr1651Ser)
 dbSNP
11g.118503262C>ACA382805289KMT2Ac.7469C>A (p.Thr2490Asn)
c.7460C>A (p.Thr2487Asn)
c.1409C>A (p.Thr470Asn)
c.1667C>A (p.Thr556Asn)
c.7442C>A (p.Thr2481Asn)
c.7361C>A (p.Thr2454Asn)
n.6712C>A
c.7370C>A (p.Thr2457Asn)
c.7247C>A (p.Thr2416Asn)
n.1497C>A
c.4853C>A (p.Thr1618Asn)
c.7466C>A (p.Thr2489Asn)
c.5276C>A (p.Thr1759Asn)
c.4952C>A (p.Thr1651Asn)
11g.118503262C>GCA382805290KMT2Ac.7469C>G (p.Thr2490Ser)
c.7460C>G (p.Thr2487Ser)
c.1409C>G (p.Thr470Ser)
c.1667C>G (p.Thr556Ser)
c.7442C>G (p.Thr2481Ser)
c.7361C>G (p.Thr2454Ser)
n.6712C>G
c.7370C>G (p.Thr2457Ser)
c.7247C>G (p.Thr2416Ser)
n.1497C>G
c.4853C>G (p.Thr1618Ser)
c.7466C>G (p.Thr2489Ser)
c.5276C>G (p.Thr1759Ser)
c.4952C>G (p.Thr1651Ser)
 dbSNP
11g.118503262C>TCA382805291KMT2Ac.7469C>T (p.Thr2490Ile)
c.7460C>T (p.Thr2487Ile)
c.1409C>T (p.Thr470Ile)
c.1667C>T (p.Thr556Ile)
c.7442C>T (p.Thr2481Ile)
c.7361C>T (p.Thr2454Ile)
n.6712C>T
c.7370C>T (p.Thr2457Ile)
c.7247C>T (p.Thr2416Ile)
n.1497C>T
c.4853C>T (p.Thr1618Ile)
c.7466C>T (p.Thr2489Ile)
c.5276C>T (p.Thr1759Ile)
c.4952C>T (p.Thr1651Ile)
11g.118503263T>ACA477359364KMT2Ac.7470T>A (p.Thr2490=)
c.7461T>A (p.Thr2487=)
c.1410T>A (p.Thr470=)
c.1668T>A (p.Thr556=)
c.7443T>A (p.Thr2481=)
c.7362T>A (p.Thr2454=)
n.6713T>A
c.7371T>A (p.Thr2457=)
c.7248T>A (p.Thr2416=)
n.1498T>A
c.4854T>A (p.Thr1618=)
c.7467T>A (p.Thr2489=)
c.5277T>A (p.Thr1759=)
c.4953T>A (p.Thr1651=)
 gnomAD v4
11g.118503263T>CCA477359365KMT2Ac.7470T>C (p.Thr2490=)
c.7461T>C (p.Thr2487=)
c.1410T>C (p.Thr470=)
c.1668T>C (p.Thr556=)
c.7443T>C (p.Thr2481=)
c.7362T>C (p.Thr2454=)
n.6713T>C
c.7371T>C (p.Thr2457=)
c.7248T>C (p.Thr2416=)
n.1498T>C
c.4854T>C (p.Thr1618=)
c.7467T>C (p.Thr2489=)
c.5277T>C (p.Thr1759=)
c.4953T>C (p.Thr1651=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503263T>GCA477359367KMT2Ac.7470T>G (p.Thr2490=)
c.7461T>G (p.Thr2487=)
c.1410T>G (p.Thr470=)
c.1668T>G (p.Thr556=)
c.7443T>G (p.Thr2481=)
c.7362T>G (p.Thr2454=)
n.6713T>G
c.7371T>G (p.Thr2457=)
c.7248T>G (p.Thr2416=)
n.1498T>G
c.4854T>G (p.Thr1618=)
c.7467T>G (p.Thr2489=)
c.5277T>G (p.Thr1759=)
c.4953T>G (p.Thr1651=)
11g.118503263T=CA2003527662KMT2Ac.7470T= (p.Thr2490=)
c.7461T= (p.Thr2487=)
c.1410T= (p.Thr470=)
c.1668T= (p.Thr556=)
c.7443T= (p.Thr2481=)
c.7362T= (p.Thr2454=)
n.6713T=
c.7371T= (p.Thr2457=)
c.7248T= (p.Thr2416=)
n.1498T=
c.4854T= (p.Thr1618=)
c.7467T= (p.Thr2489=)
c.5277T= (p.Thr1759=)
c.4953T= (p.Thr1651=)
11g.118503264G>ACA382805293KMT2Ac.7471G>A (p.Gly2491Ser)
c.7462G>A (p.Gly2488Ser)
c.1411G>A (p.Gly471Ser)
c.1669G>A (p.Gly557Ser)
c.7444G>A (p.Gly2482Ser)
c.7363G>A (p.Gly2455Ser)
n.6714G>A
c.7372G>A (p.Gly2458Ser)
c.7249G>A (p.Gly2417Ser)
n.1499G>A
c.4855G>A (p.Gly1619Ser)
c.7468G>A (p.Gly2490Ser)
c.5278G>A (p.Gly1760Ser)
c.4954G>A (p.Gly1652Ser)
 dbSNP
11g.118503264G>CCA382805295KMT2Ac.7471G>C (p.Gly2491Arg)
c.7462G>C (p.Gly2488Arg)
c.1411G>C (p.Gly471Arg)
c.1669G>C (p.Gly557Arg)
c.7444G>C (p.Gly2482Arg)
c.7363G>C (p.Gly2455Arg)
n.6714G>C
c.7372G>C (p.Gly2458Arg)
c.7249G>C (p.Gly2417Arg)
n.1499G>C
c.4855G>C (p.Gly1619Arg)
c.7468G>C (p.Gly2490Arg)
c.5278G>C (p.Gly1760Arg)
c.4954G>C (p.Gly1652Arg)
11g.118503264G>TCA382805296KMT2Ac.7471G>T (p.Gly2491Cys)
c.7462G>T (p.Gly2488Cys)
c.1411G>T (p.Gly471Cys)
c.1669G>T (p.Gly557Cys)
c.7444G>T (p.Gly2482Cys)
c.7363G>T (p.Gly2455Cys)
n.6714G>T
c.7372G>T (p.Gly2458Cys)
c.7249G>T (p.Gly2417Cys)
n.1499G>T
c.4855G>T (p.Gly1619Cys)
c.7468G>T (p.Gly2490Cys)
c.5278G>T (p.Gly1760Cys)
c.4954G>T (p.Gly1652Cys)
11g.118503265G>ACA382805297KMT2Ac.7472G>A (p.Gly2491Asp)
c.7463G>A (p.Gly2488Asp)
c.1412G>A (p.Gly471Asp)
c.1670G>A (p.Gly557Asp)
c.7445G>A (p.Gly2482Asp)
c.7364G>A (p.Gly2455Asp)
n.6715G>A
c.7373G>A (p.Gly2458Asp)
c.7250G>A (p.Gly2417Asp)
n.1500G>A
c.4856G>A (p.Gly1619Asp)
c.7469G>A (p.Gly2490Asp)
c.5279G>A (p.Gly1760Asp)
c.4955G>A (p.Gly1652Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503265G>CCA382805298KMT2Ac.7472G>C (p.Gly2491Ala)
c.7463G>C (p.Gly2488Ala)
c.1412G>C (p.Gly471Ala)
c.1670G>C (p.Gly557Ala)
c.7445G>C (p.Gly2482Ala)
c.7364G>C (p.Gly2455Ala)
n.6715G>C
c.7373G>C (p.Gly2458Ala)
c.7250G>C (p.Gly2417Ala)
n.1500G>C
c.4856G>C (p.Gly1619Ala)
c.7469G>C (p.Gly2490Ala)
c.5279G>C (p.Gly1760Ala)
c.4955G>C (p.Gly1652Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503265G=CA2003527665KMT2Ac.7472G= (p.Gly2491=)
c.7463G= (p.Gly2488=)
c.1412G= (p.Gly471=)
c.1670G= (p.Gly557=)
c.7445G= (p.Gly2482=)
c.7364G= (p.Gly2455=)
n.6715G=
c.7373G= (p.Gly2458=)
c.7250G= (p.Gly2417=)
n.1500G=
c.4856G= (p.Gly1619=)
c.7469G= (p.Gly2490=)
c.5279G= (p.Gly1760=)
c.4955G= (p.Gly1652=)
11g.118503265G>TCA382805300KMT2Ac.7472G>T (p.Gly2491Val)
c.7463G>T (p.Gly2488Val)
c.1412G>T (p.Gly471Val)
c.1670G>T (p.Gly557Val)
c.7445G>T (p.Gly2482Val)
c.7364G>T (p.Gly2455Val)
n.6715G>T
c.7373G>T (p.Gly2458Val)
c.7250G>T (p.Gly2417Val)
n.1500G>T
c.4856G>T (p.Gly1619Val)
c.7469G>T (p.Gly2490Val)
c.5279G>T (p.Gly1760Val)
c.4955G>T (p.Gly1652Val)
11g.118503266T>ACA477359369KMT2Ac.7473T>A (p.Gly2491=)
c.7464T>A (p.Gly2488=)
c.1413T>A (p.Gly471=)
c.1671T>A (p.Gly557=)
c.7446T>A (p.Gly2482=)
c.7365T>A (p.Gly2455=)
n.6716T>A
c.7374T>A (p.Gly2458=)
c.7251T>A (p.Gly2417=)
n.1501T>A
c.4857T>A (p.Gly1619=)
c.7470T>A (p.Gly2490=)
c.5280T>A (p.Gly1760=)
c.4956T>A (p.Gly1652=)
11g.118503266T>CCA477359371KMT2Ac.7473T>C (p.Gly2491=)
c.7464T>C (p.Gly2488=)
c.1413T>C (p.Gly471=)
c.1671T>C (p.Gly557=)
c.7446T>C (p.Gly2482=)
c.7365T>C (p.Gly2455=)
n.6716T>C
c.7374T>C (p.Gly2458=)
c.7251T>C (p.Gly2417=)
n.1501T>C
c.4857T>C (p.Gly1619=)
c.7470T>C (p.Gly2490=)
c.5280T>C (p.Gly1760=)
c.4956T>C (p.Gly1652=)
11g.118503266T>GCA477359370KMT2Ac.7473T>G (p.Gly2491=)
c.7464T>G (p.Gly2488=)
c.1413T>G (p.Gly471=)
c.1671T>G (p.Gly557=)
c.7446T>G (p.Gly2482=)
c.7365T>G (p.Gly2455=)
n.6716T>G
c.7374T>G (p.Gly2458=)
c.7251T>G (p.Gly2417=)
n.1501T>G
c.4857T>G (p.Gly1619=)
c.7470T>G (p.Gly2490=)
c.5280T>G (p.Gly1760=)
c.4956T>G (p.Gly1652=)
11g.118503267G>ACA382805302KMT2Ac.7474G>A (p.Glu2492Lys)
c.7465G>A (p.Glu2489Lys)
c.1414G>A (p.Glu472Lys)
c.1672G>A (p.Glu558Lys)
c.7447G>A (p.Glu2483Lys)
c.7366G>A (p.Glu2456Lys)
n.6717G>A
c.7375G>A (p.Glu2459Lys)
c.7252G>A (p.Glu2418Lys)
n.1502G>A
c.4858G>A (p.Glu1620Lys)
c.7471G>A (p.Glu2491Lys)
c.5281G>A (p.Glu1761Lys)
c.4957G>A (p.Glu1653Lys)
11g.118503267G>CCA382805304KMT2Ac.7474G>C (p.Glu2492Gln)
c.7465G>C (p.Glu2489Gln)
c.1414G>C (p.Glu472Gln)
c.1672G>C (p.Glu558Gln)
c.7447G>C (p.Glu2483Gln)
c.7366G>C (p.Glu2456Gln)
n.6717G>C
c.7375G>C (p.Glu2459Gln)
c.7252G>C (p.Glu2418Gln)
n.1502G>C
c.4858G>C (p.Glu1620Gln)
c.7471G>C (p.Glu2491Gln)
c.5281G>C (p.Glu1761Gln)
c.4957G>C (p.Glu1653Gln)
11g.118503267G>TCA382805305KMT2Ac.7474G>T (p.Glu2492Ter)
c.7465G>T (p.Glu2489Ter)
c.1414G>T (p.Glu472Ter)
c.1672G>T (p.Glu558Ter)
c.7447G>T (p.Glu2483Ter)
c.7366G>T (p.Glu2456Ter)
n.6717G>T
c.7375G>T (p.Glu2459Ter)
c.7252G>T (p.Glu2418Ter)
n.1502G>T
c.4858G>T (p.Glu1620Ter)
c.7471G>T (p.Glu2491Ter)
c.5281G>T (p.Glu1761Ter)
c.4957G>T (p.Glu1653Ter)
11g.118503268A>CCA382805307KMT2Ac.7475A>C (p.Glu2492Ala)
c.7466A>C (p.Glu2489Ala)
c.1415A>C (p.Glu472Ala)
c.1673A>C (p.Glu558Ala)
c.7448A>C (p.Glu2483Ala)
c.7367A>C (p.Glu2456Ala)
n.6718A>C
c.7376A>C (p.Glu2459Ala)
c.7253A>C (p.Glu2418Ala)
n.1503A>C
c.4859A>C (p.Glu1620Ala)
c.7472A>C (p.Glu2491Ala)
c.5282A>C (p.Glu1761Ala)
c.4958A>C (p.Glu1653Ala)
11g.118503268A>GCA382805311KMT2Ac.7475A>G (p.Glu2492Gly)
c.7466A>G (p.Glu2489Gly)
c.1415A>G (p.Glu472Gly)
c.1673A>G (p.Glu558Gly)
c.7448A>G (p.Glu2483Gly)
c.7367A>G (p.Glu2456Gly)
n.6718A>G
c.7376A>G (p.Glu2459Gly)
c.7253A>G (p.Glu2418Gly)
n.1503A>G
c.4859A>G (p.Glu1620Gly)
c.7472A>G (p.Glu2491Gly)
c.5282A>G (p.Glu1761Gly)
c.4958A>G (p.Glu1653Gly)
11g.118503268A>TCA382805309KMT2Ac.7475A>T (p.Glu2492Val)
c.7466A>T (p.Glu2489Val)
c.1415A>T (p.Glu472Val)
c.1673A>T (p.Glu558Val)
c.7448A>T (p.Glu2483Val)
c.7367A>T (p.Glu2456Val)
n.6718A>T
c.7376A>T (p.Glu2459Val)
c.7253A>T (p.Glu2418Val)
n.1503A>T
c.4859A>T (p.Glu1620Val)
c.7472A>T (p.Glu2491Val)
c.5282A>T (p.Glu1761Val)
c.4958A>T (p.Glu1653Val)
11g.118503269G>ACA477359372KMT2Ac.7476G>A (p.Glu2492=)
c.7467G>A (p.Glu2489=)
c.1416G>A (p.Glu472=)
c.1674G>A (p.Glu558=)
c.7449G>A (p.Glu2483=)
c.7368G>A (p.Glu2456=)
n.6719G>A
c.7377G>A (p.Glu2459=)
c.7254G>A (p.Glu2418=)
n.1504G>A
c.4860G>A (p.Glu1620=)
c.7473G>A (p.Glu2491=)
c.5283G>A (p.Glu1761=)
c.4959G>A (p.Glu1653=)
 dbSNP
11g.118503269G>CCA382805312KMT2Ac.7476G>C (p.Glu2492Asp)
c.7467G>C (p.Glu2489Asp)
c.1416G>C (p.Glu472Asp)
c.1674G>C (p.Glu558Asp)
c.7449G>C (p.Glu2483Asp)
c.7368G>C (p.Glu2456Asp)
n.6719G>C
c.7377G>C (p.Glu2459Asp)
c.7254G>C (p.Glu2418Asp)
n.1504G>C
c.4860G>C (p.Glu1620Asp)
c.7473G>C (p.Glu2491Asp)
c.5283G>C (p.Glu1761Asp)
c.4959G>C (p.Glu1653Asp)
 ClinVar dbSNP
11g.118503269G>TCA382805314KMT2Ac.7476G>T (p.Glu2492Asp)
c.7467G>T (p.Glu2489Asp)
c.1416G>T (p.Glu472Asp)
c.1674G>T (p.Glu558Asp)
c.7449G>T (p.Glu2483Asp)
c.7368G>T (p.Glu2456Asp)
n.6719G>T
c.7377G>T (p.Glu2459Asp)
c.7254G>T (p.Glu2418Asp)
n.1504G>T
c.4860G>T (p.Glu1620Asp)
c.7473G>T (p.Glu2491Asp)
c.5283G>T (p.Glu1761Asp)
c.4959G>T (p.Glu1653Asp)
11g.118503270G>ACA382805316KMT2Ac.7477G>A (p.Glu2493Lys)
c.7468G>A (p.Glu2490Lys)
c.1417G>A (p.Glu473Lys)
c.1675G>A (p.Glu559Lys)
c.7450G>A (p.Glu2484Lys)
c.7369G>A (p.Glu2457Lys)
n.6720G>A
c.7378G>A (p.Glu2460Lys)
c.7255G>A (p.Glu2419Lys)
n.1505G>A
c.4861G>A (p.Glu1621Lys)
c.7474G>A (p.Glu2492Lys)
c.5284G>A (p.Glu1762Lys)
c.4960G>A (p.Glu1654Lys)
11g.118503270G>CCA382805318KMT2Ac.7477G>C (p.Glu2493Gln)
c.7468G>C (p.Glu2490Gln)
c.1417G>C (p.Glu473Gln)
c.1675G>C (p.Glu559Gln)
c.7450G>C (p.Glu2484Gln)
c.7369G>C (p.Glu2457Gln)
n.6720G>C
c.7378G>C (p.Glu2460Gln)
c.7255G>C (p.Glu2419Gln)
n.1505G>C
c.4861G>C (p.Glu1621Gln)
c.7474G>C (p.Glu2492Gln)
c.5284G>C (p.Glu1762Gln)
c.4960G>C (p.Glu1654Gln)
11g.118503270G>TCA382805319KMT2Ac.7477G>T (p.Glu2493Ter)
c.7468G>T (p.Glu2490Ter)
c.1417G>T (p.Glu473Ter)
c.1675G>T (p.Glu559Ter)
c.7450G>T (p.Glu2484Ter)
c.7369G>T (p.Glu2457Ter)
n.6720G>T
c.7378G>T (p.Glu2460Ter)
c.7255G>T (p.Glu2419Ter)
n.1505G>T
c.4861G>T (p.Glu1621Ter)
c.7474G>T (p.Glu2492Ter)
c.5284G>T (p.Glu1762Ter)
c.4960G>T (p.Glu1654Ter)
11g.118503271A>CCA382805321KMT2Ac.7478A>C (p.Glu2493Ala)
c.7469A>C (p.Glu2490Ala)
c.1418A>C (p.Glu473Ala)
c.1676A>C (p.Glu559Ala)
c.7451A>C (p.Glu2484Ala)
c.7370A>C (p.Glu2457Ala)
n.6721A>C
c.7379A>C (p.Glu2460Ala)
c.7256A>C (p.Glu2419Ala)
n.1506A>C
c.4862A>C (p.Glu1621Ala)
c.7475A>C (p.Glu2492Ala)
c.5285A>C (p.Glu1762Ala)
c.4961A>C (p.Glu1654Ala)
 gnomAD v4
11g.118503271A>GCA382805323KMT2Ac.7478A>G (p.Glu2493Gly)
c.7469A>G (p.Glu2490Gly)
c.1418A>G (p.Glu473Gly)
c.1676A>G (p.Glu559Gly)
c.7451A>G (p.Glu2484Gly)
c.7370A>G (p.Glu2457Gly)
n.6721A>G
c.7379A>G (p.Glu2460Gly)
c.7256A>G (p.Glu2419Gly)
n.1506A>G
c.4862A>G (p.Glu1621Gly)
c.7475A>G (p.Glu2492Gly)
c.5285A>G (p.Glu1762Gly)
c.4961A>G (p.Glu1654Gly)
11g.118503271A>TCA382805325KMT2Ac.7478A>T (p.Glu2493Val)
c.7469A>T (p.Glu2490Val)
c.1418A>T (p.Glu473Val)
c.1676A>T (p.Glu559Val)
c.7451A>T (p.Glu2484Val)
c.7370A>T (p.Glu2457Val)
n.6721A>T
c.7379A>T (p.Glu2460Val)
c.7256A>T (p.Glu2419Val)
n.1506A>T
c.4862A>T (p.Glu1621Val)
c.7475A>T (p.Glu2492Val)
c.5285A>T (p.Glu1762Val)
c.4961A>T (p.Glu1654Val)
11g.118503272A>CCA382805326KMT2Ac.7479A>C (p.Glu2493Asp)
c.7470A>C (p.Glu2490Asp)
c.1419A>C (p.Glu473Asp)
c.1677A>C (p.Glu559Asp)
c.7452A>C (p.Glu2484Asp)
c.7371A>C (p.Glu2457Asp)
n.6722A>C
c.7380A>C (p.Glu2460Asp)
c.7257A>C (p.Glu2419Asp)
n.1507A>C
c.4863A>C (p.Glu1621Asp)
c.7476A>C (p.Glu2492Asp)
c.5286A>C (p.Glu1762Asp)
c.4962A>C (p.Glu1654Asp)
11g.118503272A>GCA477359373KMT2Ac.7479A>G (p.Glu2493=)
c.7470A>G (p.Glu2490=)
c.1419A>G (p.Glu473=)
c.1677A>G (p.Glu559=)
c.7452A>G (p.Glu2484=)
c.7371A>G (p.Glu2457=)
n.6722A>G
c.7380A>G (p.Glu2460=)
c.7257A>G (p.Glu2419=)
n.1507A>G
c.4863A>G (p.Glu1621=)
c.7476A>G (p.Glu2492=)
c.5286A>G (p.Glu1762=)
c.4962A>G (p.Glu1654=)
11g.118503272A>TCA382805328KMT2Ac.7479A>T (p.Glu2493Asp)
c.7470A>T (p.Glu2490Asp)
c.1419A>T (p.Glu473Asp)
c.1677A>T (p.Glu559Asp)
c.7452A>T (p.Glu2484Asp)
c.7371A>T (p.Glu2457Asp)
n.6722A>T
c.7380A>T (p.Glu2460Asp)
c.7257A>T (p.Glu2419Asp)
n.1507A>T
c.4863A>T (p.Glu1621Asp)
c.7476A>T (p.Glu2492Asp)
c.5286A>T (p.Glu1762Asp)
c.4962A>T (p.Glu1654Asp)
11g.118503273G>ACA382805330KMT2Ac.7480G>A (p.Gly2494Arg)
c.7471G>A (p.Gly2491Arg)
c.1420G>A (p.Gly474Arg)
c.1678G>A (p.Gly560Arg)
c.7453G>A (p.Gly2485Arg)
c.7372G>A (p.Gly2458Arg)
n.6723G>A
c.7381G>A (p.Gly2461Arg)
c.7258G>A (p.Gly2420Arg)
n.1508G>A
c.4864G>A (p.Gly1622Arg)
c.7477G>A (p.Gly2493Arg)
c.5287G>A (p.Gly1763Arg)
c.4963G>A (p.Gly1655Arg)
 ClinVar dbSNP
11g.118503273G>CCA382805331KMT2Ac.7480G>C (p.Gly2494Arg)
c.7471G>C (p.Gly2491Arg)
c.1420G>C (p.Gly474Arg)
c.1678G>C (p.Gly560Arg)
c.7453G>C (p.Gly2485Arg)
c.7372G>C (p.Gly2458Arg)
n.6723G>C
c.7381G>C (p.Gly2461Arg)
c.7258G>C (p.Gly2420Arg)
n.1508G>C
c.4864G>C (p.Gly1622Arg)
c.7477G>C (p.Gly2493Arg)
c.5287G>C (p.Gly1763Arg)
c.4963G>C (p.Gly1655Arg)
11g.118503273G=CA2003527670KMT2Ac.7480G= (p.Gly2494=)
c.7471G= (p.Gly2491=)
c.1420G= (p.Gly474=)
c.1678G= (p.Gly560=)
c.7453G= (p.Gly2485=)
c.7372G= (p.Gly2458=)
n.6723G=
c.7381G= (p.Gly2461=)
c.7258G= (p.Gly2420=)
n.1508G=
c.4864G= (p.Gly1622=)
c.7477G= (p.Gly2493=)
c.5287G= (p.Gly1763=)
c.4963G= (p.Gly1655=)
11g.118503273G>TCA382805333KMT2Ac.7480G>T (p.Gly2494Ter)
c.7471G>T (p.Gly2491Ter)
c.1420G>T (p.Gly474Ter)
c.1678G>T (p.Gly560Ter)
c.7453G>T (p.Gly2485Ter)
c.7372G>T (p.Gly2458Ter)
n.6723G>T
c.7381G>T (p.Gly2461Ter)
c.7258G>T (p.Gly2420Ter)
n.1508G>T
c.4864G>T (p.Gly1622Ter)
c.7477G>T (p.Gly2493Ter)
c.5287G>T (p.Gly1763Ter)
c.4963G>T (p.Gly1655Ter)
11g.118503274G>ACA382805335KMT2Ac.7481G>A (p.Gly2494Glu)
c.7472G>A (p.Gly2491Glu)
c.1421G>A (p.Gly474Glu)
c.1679G>A (p.Gly560Glu)
c.7454G>A (p.Gly2485Glu)
c.7373G>A (p.Gly2458Glu)
n.6724G>A
c.7382G>A (p.Gly2461Glu)
c.7259G>A (p.Gly2420Glu)
n.1509G>A
c.4865G>A (p.Gly1622Glu)
c.7478G>A (p.Gly2493Glu)
c.5288G>A (p.Gly1763Glu)
c.4964G>A (p.Gly1655Glu)
11g.118503274G>CCA382805338KMT2Ac.7481G>C (p.Gly2494Ala)
c.7472G>C (p.Gly2491Ala)
c.1421G>C (p.Gly474Ala)
c.1679G>C (p.Gly560Ala)
c.7454G>C (p.Gly2485Ala)
c.7373G>C (p.Gly2458Ala)
n.6724G>C
c.7382G>C (p.Gly2461Ala)
c.7259G>C (p.Gly2420Ala)
n.1509G>C
c.4865G>C (p.Gly1622Ala)
c.7478G>C (p.Gly2493Ala)
c.5288G>C (p.Gly1763Ala)
c.4964G>C (p.Gly1655Ala)
11g.118503274G>TCA382805336KMT2Ac.7481G>T (p.Gly2494Val)
c.7472G>T (p.Gly2491Val)
c.1421G>T (p.Gly474Val)
c.1679G>T (p.Gly560Val)
c.7454G>T (p.Gly2485Val)
c.7373G>T (p.Gly2458Val)
n.6724G>T
c.7382G>T (p.Gly2461Val)
c.7259G>T (p.Gly2420Val)
n.1509G>T
c.4865G>T (p.Gly1622Val)
c.7478G>T (p.Gly2493Val)
c.5288G>T (p.Gly1763Val)
c.4964G>T (p.Gly1655Val)
11g.118503274_118503275insGCCATTAGAAAAAAAAAAAAAACA2725086118KMT2Ac.7481_7482insGCCATTAGAAAAAAAAAAAAAA (p.Asn2495ProfsTer16)
c.7472_7473insGCCATTAGAAAAAAAAAAAAAA (p.Asn2492ProfsTer16)
c.1421_1422insGCCATTAGAAAAAAAAAAAAAA (p.Asn475ProfsTer16)
c.1679_1680insGCCATTAGAAAAAAAAAAAAAA (p.Asn561ProfsTer16)
c.7454_7455insGCCATTAGAAAAAAAAAAAAAA (p.Asn2486ProfsTer16)
c.7373_7374insGCCATTAGAAAAAAAAAAAAAA (p.Asn2459ProfsTer16)
n.6724_6725insGCCATTAGAAAAAAAAAAAAAA
c.7382_7383insGCCATTAGAAAAAAAAAAAAAA (p.Asn2462ProfsTer16)
c.7259_7260insGCCATTAGAAAAAAAAAAAAAA (p.Asn2421ProfsTer16)
n.1509_1510insGCCATTAGAAAAAAAAAAAAAA
c.4865_4866insGCCATTAGAAAAAAAAAAAAAA (p.Asn1623ProfsTer16)
c.7478_7479insGCCATTAGAAAAAAAAAAAAAA (p.Asn2494ProfsTer16)
c.5288_5289insGCCATTAGAAAAAAAAAAAAAA (p.Asn1764ProfsTer16)
c.4964_4965insGCCATTAGAAAAAAAAAAAAAA (p.Asn1656ProfsTer16)
 dbSNP
11g.118503275A=CA2003527671KMT2Ac.7482A= (p.Gly2494=)
c.7473A= (p.Gly2491=)
c.1422A= (p.Gly474=)
c.1680A= (p.Gly560=)
c.7455A= (p.Gly2485=)
c.7374A= (p.Gly2458=)
n.6725A=
c.7383A= (p.Gly2461=)
c.7260A= (p.Gly2420=)
n.1510A=
c.4866A= (p.Gly1622=)
c.7479A= (p.Gly2493=)
c.5289A= (p.Gly1763=)
c.4965A= (p.Gly1655=)
11g.118503275A>CCA477359376KMT2Ac.7482A>C (p.Gly2494=)
c.7473A>C (p.Gly2491=)
c.1422A>C (p.Gly474=)
c.1680A>C (p.Gly560=)
c.7455A>C (p.Gly2485=)
c.7374A>C (p.Gly2458=)
n.6725A>C
c.7383A>C (p.Gly2461=)
c.7260A>C (p.Gly2420=)
n.1510A>C
c.4866A>C (p.Gly1622=)
c.7479A>C (p.Gly2493=)
c.5289A>C (p.Gly1763=)
c.4965A>C (p.Gly1655=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118503275A>GCA477359378KMT2Ac.7482A>G (p.Gly2494=)
c.7473A>G (p.Gly2491=)
c.1422A>G (p.Gly474=)
c.1680A>G (p.Gly560=)
c.7455A>G (p.Gly2485=)
c.7374A>G (p.Gly2458=)
n.6725A>G
c.7383A>G (p.Gly2461=)
c.7260A>G (p.Gly2420=)
n.1510A>G
c.4866A>G (p.Gly1622=)
c.7479A>G (p.Gly2493=)
c.5289A>G (p.Gly1763=)
c.4965A>G (p.Gly1655=)
11g.118503275A>TCA477359379KMT2Ac.7482A>T (p.Gly2494=)
c.7473A>T (p.Gly2491=)
c.1422A>T (p.Gly474=)
c.1680A>T (p.Gly560=)
c.7455A>T (p.Gly2485=)
c.7374A>T (p.Gly2458=)
n.6725A>T
c.7383A>T (p.Gly2461=)
c.7260A>T (p.Gly2420=)
n.1510A>T
c.4866A>T (p.Gly1622=)
c.7479A>T (p.Gly2493=)
c.5289A>T (p.Gly1763=)
c.4965A>T (p.Gly1655=)
11g.118503276A>CCA382805341KMT2Ac.7483A>C (p.Asn2495His)
c.7474A>C (p.Asn2492His)
c.1423A>C (p.Asn475His)
c.1681A>C (p.Asn561His)
c.7456A>C (p.Asn2486His)
c.7375A>C (p.Asn2459His)
n.6726A>C
c.7384A>C (p.Asn2462His)
c.7261A>C (p.Asn2421His)
n.1511A>C
c.4867A>C (p.Asn1623His)
c.7480A>C (p.Asn2494His)
c.5290A>C (p.Asn1764His)
c.4966A>C (p.Asn1656His)
11g.118503276A>GCA382805342KMT2Ac.7483A>G (p.Asn2495Asp)
c.7474A>G (p.Asn2492Asp)
c.1423A>G (p.Asn475Asp)
c.1681A>G (p.Asn561Asp)
c.7456A>G (p.Asn2486Asp)
c.7375A>G (p.Asn2459Asp)
n.6726A>G
c.7384A>G (p.Asn2462Asp)
c.7261A>G (p.Asn2421Asp)
n.1511A>G
c.4867A>G (p.Asn1623Asp)
c.7480A>G (p.Asn2494Asp)
c.5290A>G (p.Asn1764Asp)
c.4966A>G (p.Asn1656Asp)
11g.118503276A>TCA382805344KMT2Ac.7483A>T (p.Asn2495Tyr)
c.7474A>T (p.Asn2492Tyr)
c.1423A>T (p.Asn475Tyr)
c.1681A>T (p.Asn561Tyr)
c.7456A>T (p.Asn2486Tyr)
c.7375A>T (p.Asn2459Tyr)
n.6726A>T
c.7384A>T (p.Asn2462Tyr)
c.7261A>T (p.Asn2421Tyr)
n.1511A>T
c.4867A>T (p.Asn1623Tyr)
c.7480A>T (p.Asn2494Tyr)
c.5290A>T (p.Asn1764Tyr)
c.4966A>T (p.Asn1656Tyr)
11g.118503277A>CCA382805346KMT2Ac.7484A>C (p.Asn2495Thr)
c.7475A>C (p.Asn2492Thr)
c.1424A>C (p.Asn475Thr)
c.1682A>C (p.Asn561Thr)
c.7457A>C (p.Asn2486Thr)
c.7376A>C (p.Asn2459Thr)
n.6727A>C
c.7385A>C (p.Asn2462Thr)
c.7262A>C (p.Asn2421Thr)
n.1512A>C
c.4868A>C (p.Asn1623Thr)
c.7481A>C (p.Asn2494Thr)
c.5291A>C (p.Asn1764Thr)
c.4967A>C (p.Asn1656Thr)
11g.118503277A>GCA382805347KMT2Ac.7484A>G (p.Asn2495Ser)
c.7475A>G (p.Asn2492Ser)
c.1424A>G (p.Asn475Ser)
c.1682A>G (p.Asn561Ser)
c.7457A>G (p.Asn2486Ser)
c.7376A>G (p.Asn2459Ser)
n.6727A>G
c.7385A>G (p.Asn2462Ser)
c.7262A>G (p.Asn2421Ser)
n.1512A>G
c.4868A>G (p.Asn1623Ser)
c.7481A>G (p.Asn2494Ser)
c.5291A>G (p.Asn1764Ser)
c.4967A>G (p.Asn1656Ser)
11g.118503277A>TCA382805348KMT2Ac.7484A>T (p.Asn2495Ile)
c.7475A>T (p.Asn2492Ile)
c.1424A>T (p.Asn475Ile)
c.1682A>T (p.Asn561Ile)
c.7457A>T (p.Asn2486Ile)
c.7376A>T (p.Asn2459Ile)
n.6727A>T
c.7385A>T (p.Asn2462Ile)
c.7262A>T (p.Asn2421Ile)
n.1512A>T
c.4868A>T (p.Asn1623Ile)
c.7481A>T (p.Asn2494Ile)
c.5291A>T (p.Asn1764Ile)
c.4967A>T (p.Asn1656Ile)
11g.118503278C>ACA382805350KMT2Ac.7485C>A (p.Asn2495Lys)
c.7476C>A (p.Asn2492Lys)
c.1425C>A (p.Asn475Lys)
c.1683C>A (p.Asn561Lys)
c.7458C>A (p.Asn2486Lys)
c.7377C>A (p.Asn2459Lys)
n.6728C>A
c.7386C>A (p.Asn2462Lys)
c.7263C>A (p.Asn2421Lys)
n.1513C>A
c.4869C>A (p.Asn1623Lys)
c.7482C>A (p.Asn2494Lys)
c.5292C>A (p.Asn1764Lys)
c.4968C>A (p.Asn1656Lys)
11g.118503278C>GCA382805352KMT2Ac.7485C>G (p.Asn2495Lys)
c.7476C>G (p.Asn2492Lys)
c.1425C>G (p.Asn475Lys)
c.1683C>G (p.Asn561Lys)
c.7458C>G (p.Asn2486Lys)
c.7377C>G (p.Asn2459Lys)
n.6728C>G
c.7386C>G (p.Asn2462Lys)
c.7263C>G (p.Asn2421Lys)
n.1513C>G
c.4869C>G (p.Asn1623Lys)
c.7482C>G (p.Asn2494Lys)
c.5292C>G (p.Asn1764Lys)
c.4968C>G (p.Asn1656Lys)
11g.118503278C>TCA477359380KMT2Ac.7485C>T (p.Asn2495=)
c.7476C>T (p.Asn2492=)
c.1425C>T (p.Asn475=)
c.1683C>T (p.Asn561=)
c.7458C>T (p.Asn2486=)
c.7377C>T (p.Asn2459=)
n.6728C>T
c.7386C>T (p.Asn2462=)
c.7263C>T (p.Asn2421=)
n.1513C>T
c.4869C>T (p.Asn1623=)
c.7482C>T (p.Asn2494=)
c.5292C>T (p.Asn1764=)
c.4968C>T (p.Asn1656=)
 gnomAD v4
11g.118503279T>ACA382805353KMT2Ac.7486T>A (p.Leu2496Met)
c.7477T>A (p.Leu2493Met)
c.1426T>A (p.Leu476Met)
c.1684T>A (p.Leu562Met)
c.7459T>A (p.Leu2487Met)
c.7378T>A (p.Leu2460Met)
n.6729T>A
c.7387T>A (p.Leu2463Met)
c.7264T>A (p.Leu2422Met)
n.1514T>A
c.4870T>A (p.Leu1624Met)
c.7483T>A (p.Leu2495Met)
c.5293T>A (p.Leu1765Met)
c.4969T>A (p.Leu1657Met)
11g.118503279T>CCA477359381KMT2Ac.7486T>C (p.Leu2496=)
c.7477T>C (p.Leu2493=)
c.1426T>C (p.Leu476=)
c.1684T>C (p.Leu562=)
c.7459T>C (p.Leu2487=)
c.7378T>C (p.Leu2460=)
n.6729T>C
c.7387T>C (p.Leu2463=)
c.7264T>C (p.Leu2422=)
n.1514T>C
c.4870T>C (p.Leu1624=)
c.7483T>C (p.Leu2495=)
c.5293T>C (p.Leu1765=)
c.4969T>C (p.Leu1657=)
11g.118503279T>GCA382805354KMT2Ac.7486T>G (p.Leu2496Val)
c.7477T>G (p.Leu2493Val)
c.1426T>G (p.Leu476Val)
c.1684T>G (p.Leu562Val)
c.7459T>G (p.Leu2487Val)
c.7378T>G (p.Leu2460Val)
n.6729T>G
c.7387T>G (p.Leu2463Val)
c.7264T>G (p.Leu2422Val)
n.1514T>G
c.4870T>G (p.Leu1624Val)
c.7483T>G (p.Leu2495Val)
c.5293T>G (p.Leu1765Val)
c.4969T>G (p.Leu1657Val)
11g.118503280T>ACA382805360KMT2Ac.7487T>A (p.Leu2496Ter)
c.7478T>A (p.Leu2493Ter)
c.1427T>A (p.Leu476Ter)
c.1685T>A (p.Leu562Ter)
c.7460T>A (p.Leu2487Ter)
c.7379T>A (p.Leu2460Ter)
n.6730T>A
c.7388T>A (p.Leu2463Ter)
c.7265T>A (p.Leu2422Ter)
n.1515T>A
c.4871T>A (p.Leu1624Ter)
c.7484T>A (p.Leu2495Ter)
c.5294T>A (p.Leu1765Ter)
c.4970T>A (p.Leu1657Ter)
11g.118503280T>CCA382805359KMT2Ac.7487T>C (p.Leu2496Ser)
c.7478T>C (p.Leu2493Ser)
c.1427T>C (p.Leu476Ser)
c.1685T>C (p.Leu562Ser)
c.7460T>C (p.Leu2487Ser)
c.7379T>C (p.Leu2460Ser)
n.6730T>C
c.7388T>C (p.Leu2463Ser)
c.7265T>C (p.Leu2422Ser)
n.1515T>C
c.4871T>C (p.Leu1624Ser)
c.7484T>C (p.Leu2495Ser)
c.5294T>C (p.Leu1765Ser)
c.4970T>C (p.Leu1657Ser)
11g.118503280T>GCA382805357KMT2Ac.7487T>G (p.Leu2496Trp)
c.7478T>G (p.Leu2493Trp)
c.1427T>G (p.Leu476Trp)
c.1685T>G (p.Leu562Trp)
c.7460T>G (p.Leu2487Trp)
c.7379T>G (p.Leu2460Trp)
n.6730T>G
c.7388T>G (p.Leu2463Trp)
c.7265T>G (p.Leu2422Trp)
n.1515T>G
c.4871T>G (p.Leu1624Trp)
c.7484T>G (p.Leu2495Trp)
c.5294T>G (p.Leu1765Trp)
c.4970T>G (p.Leu1657Trp)
11g.118503281G>ACA477359385KMT2Ac.7488G>A (p.Leu2496=)
c.7479G>A (p.Leu2493=)
c.1428G>A (p.Leu476=)
c.1686G>A (p.Leu562=)
c.7461G>A (p.Leu2487=)
c.7380G>A (p.Leu2460=)
n.6731G>A
c.7389G>A (p.Leu2463=)
c.7266G>A (p.Leu2422=)
n.1516G>A
c.4872G>A (p.Leu1624=)
c.7485G>A (p.Leu2495=)
c.5295G>A (p.Leu1765=)
c.4971G>A (p.Leu1657=)
 dbSNP
11g.118503281G>CCA382805362KMT2Ac.7488G>C (p.Leu2496Phe)
c.7479G>C (p.Leu2493Phe)
c.1428G>C (p.Leu476Phe)
c.1686G>C (p.Leu562Phe)
c.7461G>C (p.Leu2487Phe)
c.7380G>C (p.Leu2460Phe)
n.6731G>C
c.7389G>C (p.Leu2463Phe)
c.7266G>C (p.Leu2422Phe)
n.1516G>C
c.4872G>C (p.Leu1624Phe)
c.7485G>C (p.Leu2495Phe)
c.5295G>C (p.Leu1765Phe)
c.4971G>C (p.Leu1657Phe)
11g.118503281G=CA2003527674KMT2Ac.7488G= (p.Leu2496=)
c.7479G= (p.Leu2493=)
c.1428G= (p.Leu476=)
c.1686G= (p.Leu562=)
c.7461G= (p.Leu2487=)
c.7380G= (p.Leu2460=)
n.6731G=
c.7389G= (p.Leu2463=)
c.7266G= (p.Leu2422=)
n.1516G=
c.4872G= (p.Leu1624=)
c.7485G= (p.Leu2495=)
c.5295G= (p.Leu1765=)
c.4971G= (p.Leu1657=)
11g.118503281G>TCA382805364KMT2Ac.7488G>T (p.Leu2496Phe)
c.7479G>T (p.Leu2493Phe)
c.1428G>T (p.Leu476Phe)
c.1686G>T (p.Leu562Phe)
c.7461G>T (p.Leu2487Phe)
c.7380G>T (p.Leu2460Phe)
n.6731G>T
c.7389G>T (p.Leu2463Phe)
c.7266G>T (p.Leu2422Phe)
n.1516G>T
c.4872G>T (p.Leu1624Phe)
c.7485G>T (p.Leu2495Phe)
c.5295G>T (p.Leu1765Phe)
c.4971G>T (p.Leu1657Phe)
11g.118503282_118503284dupCA2793815453KMT2Ac.7489_7491dup (p.Lys2497_Pro2498insLys)
c.7480_7482dup (p.Lys2494_Pro2495insLys)
c.1429_1431dup (p.Lys477_Pro478insLys)
c.1687_1689dup (p.Lys563_Pro564insLys)
c.7462_7464dup (p.Lys2488_Pro2489insLys)
c.7381_7383dup (p.Lys2461_Pro2462insLys)
n.6732_6734dup
c.7390_7392dup (p.Lys2464_Pro2465insLys)
c.7267_7269dup (p.Lys2423_Pro2424insLys)
n.1517_1519dup
c.4873_4875dup (p.Lys1625_Pro1626insLys)
c.7486_7488dup (p.Lys2496_Pro2497insLys)
c.5296_5298dup (p.Lys1766_Pro1767insLys)
c.4972_4974dup (p.Lys1658_Pro1659insLys)
11g.118503282A>CCA382805366KMT2Ac.7489A>C (p.Lys2497Gln)
c.7480A>C (p.Lys2494Gln)
c.1429A>C (p.Lys477Gln)
c.1687A>C (p.Lys563Gln)
c.7462A>C (p.Lys2488Gln)
c.7381A>C (p.Lys2461Gln)
n.6732A>C
c.7390A>C (p.Lys2464Gln)
c.7267A>C (p.Lys2423Gln)
n.1517A>C
c.4873A>C (p.Lys1625Gln)
c.7486A>C (p.Lys2496Gln)
c.5296A>C (p.Lys1766Gln)
c.4972A>C (p.Lys1658Gln)
11g.118503282A>GCA382805368KMT2Ac.7489A>G (p.Lys2497Glu)
c.7480A>G (p.Lys2494Glu)
c.1429A>G (p.Lys477Glu)
c.1687A>G (p.Lys563Glu)
c.7462A>G (p.Lys2488Glu)
c.7381A>G (p.Lys2461Glu)
n.6732A>G
c.7390A>G (p.Lys2464Glu)
c.7267A>G (p.Lys2423Glu)
n.1517A>G
c.4873A>G (p.Lys1625Glu)
c.7486A>G (p.Lys2496Glu)
c.5296A>G (p.Lys1766Glu)
c.4972A>G (p.Lys1658Glu)
11g.118503282A>TCA382805370KMT2Ac.7489A>T (p.Lys2497Ter)
c.7480A>T (p.Lys2494Ter)
c.1429A>T (p.Lys477Ter)
c.1687A>T (p.Lys563Ter)
c.7462A>T (p.Lys2488Ter)
c.7381A>T (p.Lys2461Ter)
n.6732A>T
c.7390A>T (p.Lys2464Ter)
c.7267A>T (p.Lys2423Ter)
n.1517A>T
c.4873A>T (p.Lys1625Ter)
c.7486A>T (p.Lys2496Ter)
c.5296A>T (p.Lys1766Ter)
c.4972A>T (p.Lys1658Ter)
11g.118503283A=CA2003527678KMT2Ac.7490A= (p.Lys2497=)
c.7481A= (p.Lys2494=)
c.1430A= (p.Lys477=)
c.1688A= (p.Lys563=)
c.7463A= (p.Lys2488=)
c.7382A= (p.Lys2461=)
n.6733A=
c.7391A= (p.Lys2464=)
c.7268A= (p.Lys2423=)
n.1518A=
c.4874A= (p.Lys1625=)
c.7487A= (p.Lys2496=)
c.5297A= (p.Lys1766=)
c.4973A= (p.Lys1658=)
11g.118503283A>CCA382805372KMT2Ac.7490A>C (p.Lys2497Thr)
c.7481A>C (p.Lys2494Thr)
c.1430A>C (p.Lys477Thr)
c.1688A>C (p.Lys563Thr)
c.7463A>C (p.Lys2488Thr)
c.7382A>C (p.Lys2461Thr)
n.6733A>C
c.7391A>C (p.Lys2464Thr)
c.7268A>C (p.Lys2423Thr)
n.1518A>C
c.4874A>C (p.Lys1625Thr)
c.7487A>C (p.Lys2496Thr)
c.5297A>C (p.Lys1766Thr)
c.4973A>C (p.Lys1658Thr)
11g.118503283A>GCA382805374KMT2Ac.7490A>G (p.Lys2497Arg)
c.7481A>G (p.Lys2494Arg)
c.1430A>G (p.Lys477Arg)
c.1688A>G (p.Lys563Arg)
c.7463A>G (p.Lys2488Arg)
c.7382A>G (p.Lys2461Arg)
n.6733A>G
c.7391A>G (p.Lys2464Arg)
c.7268A>G (p.Lys2423Arg)
n.1518A>G
c.4874A>G (p.Lys1625Arg)
c.7487A>G (p.Lys2496Arg)
c.5297A>G (p.Lys1766Arg)
c.4973A>G (p.Lys1658Arg)
11g.118503283A>TCA382805375KMT2Ac.7490A>T (p.Lys2497Met)
c.7481A>T (p.Lys2494Met)
c.1430A>T (p.Lys477Met)
c.1688A>T (p.Lys563Met)
c.7463A>T (p.Lys2488Met)
c.7382A>T (p.Lys2461Met)
n.6733A>T
c.7391A>T (p.Lys2464Met)
c.7268A>T (p.Lys2423Met)
n.1518A>T
c.4874A>T (p.Lys1625Met)
c.7487A>T (p.Lys2496Met)
c.5297A>T (p.Lys1766Met)
c.4973A>T (p.Lys1658Met)
 dbSNP gnomAD v3 gnomAD v4
11g.118503284G>ACA477359386KMT2Ac.7491G>A (p.Lys2497=)
c.7482G>A (p.Lys2494=)
c.1431G>A (p.Lys477=)
c.1689G>A (p.Lys563=)
c.7464G>A (p.Lys2488=)
c.7383G>A (p.Lys2461=)
n.6734G>A
c.7392G>A (p.Lys2464=)
c.7269G>A (p.Lys2423=)
n.1519G>A
c.4875G>A (p.Lys1625=)
c.7488G>A (p.Lys2496=)
c.5298G>A (p.Lys1766=)
c.4974G>A (p.Lys1658=)
11g.118503284G>CCA382805378KMT2Ac.7491G>C (p.Lys2497Asn)
c.7482G>C (p.Lys2494Asn)
c.1431G>C (p.Lys477Asn)
c.1689G>C (p.Lys563Asn)
c.7464G>C (p.Lys2488Asn)
c.7383G>C (p.Lys2461Asn)
n.6734G>C
c.7392G>C (p.Lys2464Asn)
c.7269G>C (p.Lys2423Asn)
n.1519G>C
c.4875G>C (p.Lys1625Asn)
c.7488G>C (p.Lys2496Asn)
c.5298G>C (p.Lys1766Asn)
c.4974G>C (p.Lys1658Asn)
11g.118503284G>TCA382805377KMT2Ac.7491G>T (p.Lys2497Asn)
c.7482G>T (p.Lys2494Asn)
c.1431G>T (p.Lys477Asn)
c.1689G>T (p.Lys563Asn)
c.7464G>T (p.Lys2488Asn)
c.7383G>T (p.Lys2461Asn)
n.6734G>T
c.7392G>T (p.Lys2464Asn)
c.7269G>T (p.Lys2423Asn)
n.1519G>T
c.4875G>T (p.Lys1625Asn)
c.7488G>T (p.Lys2496Asn)
c.5298G>T (p.Lys1766Asn)
c.4974G>T (p.Lys1658Asn)
 COSMIC COSMIC
11g.118503285C>ACA382805381KMT2Ac.7492C>A (p.Pro2498Thr)
c.7483C>A (p.Pro2495Thr)
c.1432C>A (p.Pro478Thr)
c.1690C>A (p.Pro564Thr)
c.7465C>A (p.Pro2489Thr)
c.7384C>A (p.Pro2462Thr)
n.6735C>A
c.7393C>A (p.Pro2465Thr)
c.7270C>A (p.Pro2424Thr)
n.1520C>A
c.4876C>A (p.Pro1626Thr)
c.7489C>A (p.Pro2497Thr)
c.5299C>A (p.Pro1767Thr)
c.4975C>A (p.Pro1659Thr)
 dbSNP COSMIC COSMIC
11g.118503285C>GCA382805382KMT2Ac.7492C>G (p.Pro2498Ala)
c.7483C>G (p.Pro2495Ala)
c.1432C>G (p.Pro478Ala)
c.1690C>G (p.Pro564Ala)
c.7465C>G (p.Pro2489Ala)
c.7384C>G (p.Pro2462Ala)
n.6735C>G
c.7393C>G (p.Pro2465Ala)
c.7270C>G (p.Pro2424Ala)
n.1520C>G
c.4876C>G (p.Pro1626Ala)
c.7489C>G (p.Pro2497Ala)
c.5299C>G (p.Pro1767Ala)
c.4975C>G (p.Pro1659Ala)
11g.118503285C>TCA382805384KMT2Ac.7492C>T (p.Pro2498Ser)
c.7483C>T (p.Pro2495Ser)
c.1432C>T (p.Pro478Ser)
c.1690C>T (p.Pro564Ser)
c.7465C>T (p.Pro2489Ser)
c.7384C>T (p.Pro2462Ser)
n.6735C>T
c.7393C>T (p.Pro2465Ser)
c.7270C>T (p.Pro2424Ser)
n.1520C>T
c.4876C>T (p.Pro1626Ser)
c.7489C>T (p.Pro2497Ser)
c.5299C>T (p.Pro1767Ser)
c.4975C>T (p.Pro1659Ser)
11g.118503286C>ACA382805385KMT2Ac.7493C>A (p.Pro2498Gln)
c.7484C>A (p.Pro2495Gln)
c.1433C>A (p.Pro478Gln)
c.1691C>A (p.Pro564Gln)
c.7466C>A (p.Pro2489Gln)
c.7385C>A (p.Pro2462Gln)
n.6736C>A
c.7394C>A (p.Pro2465Gln)
c.7271C>A (p.Pro2424Gln)
n.1521C>A
c.4877C>A (p.Pro1626Gln)
c.7490C>A (p.Pro2497Gln)
c.5300C>A (p.Pro1767Gln)
c.4976C>A (p.Pro1659Gln)
11g.118503286C>GCA382805387KMT2Ac.7493C>G (p.Pro2498Arg)
c.7484C>G (p.Pro2495Arg)
c.1433C>G (p.Pro478Arg)
c.1691C>G (p.Pro564Arg)
c.7466C>G (p.Pro2489Arg)
c.7385C>G (p.Pro2462Arg)
n.6736C>G
c.7394C>G (p.Pro2465Arg)
c.7271C>G (p.Pro2424Arg)
n.1521C>G
c.4877C>G (p.Pro1626Arg)
c.7490C>G (p.Pro2497Arg)
c.5300C>G (p.Pro1767Arg)
c.4976C>G (p.Pro1659Arg)
 dbSNP
11g.118503286C>TCA382805389KMT2Ac.7493C>T (p.Pro2498Leu)
c.7484C>T (p.Pro2495Leu)
c.1433C>T (p.Pro478Leu)
c.1691C>T (p.Pro564Leu)
c.7466C>T (p.Pro2489Leu)
c.7385C>T (p.Pro2462Leu)
n.6736C>T
c.7394C>T (p.Pro2465Leu)
c.7271C>T (p.Pro2424Leu)
n.1521C>T
c.4877C>T (p.Pro1626Leu)
c.7490C>T (p.Pro2497Leu)
c.5300C>T (p.Pro1767Leu)
c.4976C>T (p.Pro1659Leu)
11g.118503287A>CCA477359392KMT2Ac.7494A>C (p.Pro2498=)
c.7485A>C (p.Pro2495=)
c.1434A>C (p.Pro478=)
c.1692A>C (p.Pro564=)
c.7467A>C (p.Pro2489=)
c.7386A>C (p.Pro2462=)
n.6737A>C
c.7395A>C (p.Pro2465=)
c.7272A>C (p.Pro2424=)
n.1522A>C
c.4878A>C (p.Pro1626=)
c.7491A>C (p.Pro2497=)
c.5301A>C (p.Pro1767=)
c.4977A>C (p.Pro1659=)
11g.118503287A>GCA477359390KMT2Ac.7494A>G (p.Pro2498=)
c.7485A>G (p.Pro2495=)
c.1434A>G (p.Pro478=)
c.1692A>G (p.Pro564=)
c.7467A>G (p.Pro2489=)
c.7386A>G (p.Pro2462=)
n.6737A>G
c.7395A>G (p.Pro2465=)
c.7272A>G (p.Pro2424=)
n.1522A>G
c.4878A>G (p.Pro1626=)
c.7491A>G (p.Pro2497=)
c.5301A>G (p.Pro1767=)
c.4977A>G (p.Pro1659=)
11g.118503287A>TCA477359391KMT2Ac.7494A>T (p.Pro2498=)
c.7485A>T (p.Pro2495=)
c.1434A>T (p.Pro478=)
c.1692A>T (p.Pro564=)
c.7467A>T (p.Pro2489=)
c.7386A>T (p.Pro2462=)
n.6737A>T
c.7395A>T (p.Pro2465=)
c.7272A>T (p.Pro2424=)
n.1522A>T
c.4878A>T (p.Pro1626=)
c.7491A>T (p.Pro2497=)
c.5301A>T (p.Pro1767=)
c.4977A>T (p.Pro1659=)
11g.118503288G>ACA382805392KMT2Ac.7495G>A (p.Glu2499Lys)
c.7486G>A (p.Glu2496Lys)
c.1435G>A (p.Glu479Lys)
c.1693G>A (p.Glu565Lys)
c.7468G>A (p.Glu2490Lys)
c.7387G>A (p.Glu2463Lys)
n.6738G>A
c.7396G>A (p.Glu2466Lys)
c.7273G>A (p.Glu2425Lys)
n.1523G>A
c.4879G>A (p.Glu1627Lys)
c.7492G>A (p.Glu2498Lys)
c.5302G>A (p.Glu1768Lys)
c.4978G>A (p.Glu1660Lys)
 dbSNP
11g.118503288G>CCA382805395KMT2Ac.7495G>C (p.Glu2499Gln)
c.7486G>C (p.Glu2496Gln)
c.1435G>C (p.Glu479Gln)
c.1693G>C (p.Glu565Gln)
c.7468G>C (p.Glu2490Gln)
c.7387G>C (p.Glu2463Gln)
n.6738G>C
c.7396G>C (p.Glu2466Gln)
c.7273G>C (p.Glu2425Gln)
n.1523G>C
c.4879G>C (p.Glu1627Gln)
c.7492G>C (p.Glu2498Gln)
c.5302G>C (p.Glu1768Gln)
c.4978G>C (p.Glu1660Gln)
11g.118503288G>TCA382805393KMT2Ac.7495G>T (p.Glu2499Ter)
c.7486G>T (p.Glu2496Ter)
c.1435G>T (p.Glu479Ter)
c.1693G>T (p.Glu565Ter)
c.7468G>T (p.Glu2490Ter)
c.7387G>T (p.Glu2463Ter)
n.6738G>T
c.7396G>T (p.Glu2466Ter)
c.7273G>T (p.Glu2425Ter)
n.1523G>T
c.4879G>T (p.Glu1627Ter)
c.7492G>T (p.Glu2498Ter)
c.5302G>T (p.Glu1768Ter)
c.4978G>T (p.Glu1660Ter)
11g.118503289A>CCA382805396KMT2Ac.7496A>C (p.Glu2499Ala)
c.7487A>C (p.Glu2496Ala)
c.1436A>C (p.Glu479Ala)
c.1694A>C (p.Glu565Ala)
c.7469A>C (p.Glu2490Ala)
c.7388A>C (p.Glu2463Ala)
n.6739A>C
c.7397A>C (p.Glu2466Ala)
c.7274A>C (p.Glu2425Ala)
n.1524A>C
c.4880A>C (p.Glu1627Ala)
c.7493A>C (p.Glu2498Ala)
c.5303A>C (p.Glu1768Ala)
c.4979A>C (p.Glu1660Ala)
11g.118503289A>GCA382805398KMT2Ac.7496A>G (p.Glu2499Gly)
c.7487A>G (p.Glu2496Gly)
c.1436A>G (p.Glu479Gly)
c.1694A>G (p.Glu565Gly)
c.7469A>G (p.Glu2490Gly)
c.7388A>G (p.Glu2463Gly)
n.6739A>G
c.7397A>G (p.Glu2466Gly)
c.7274A>G (p.Glu2425Gly)
n.1524A>G
c.4880A>G (p.Glu1627Gly)
c.7493A>G (p.Glu2498Gly)
c.5303A>G (p.Glu1768Gly)
c.4979A>G (p.Glu1660Gly)
11g.118503289A>TCA382805400KMT2Ac.7496A>T (p.Glu2499Val)
c.7487A>T (p.Glu2496Val)
c.1436A>T (p.Glu479Val)
c.1694A>T (p.Glu565Val)
c.7469A>T (p.Glu2490Val)
c.7388A>T (p.Glu2463Val)
n.6739A>T
c.7397A>T (p.Glu2466Val)
c.7274A>T (p.Glu2425Val)
n.1524A>T
c.4880A>T (p.Glu1627Val)
c.7493A>T (p.Glu2498Val)
c.5303A>T (p.Glu1768Val)
c.4979A>T (p.Glu1660Val)
11g.118503290G>ACA477359393KMT2Ac.7497G>A (p.Glu2499=)
c.7488G>A (p.Glu2496=)
c.1437G>A (p.Glu479=)
c.1695G>A (p.Glu565=)
c.7470G>A (p.Glu2490=)
c.7389G>A (p.Glu2463=)
n.6740G>A
c.7398G>A (p.Glu2466=)
c.7275G>A (p.Glu2425=)
n.1525G>A
c.4881G>A (p.Glu1627=)
c.7494G>A (p.Glu2498=)
c.5304G>A (p.Glu1768=)
c.4980G>A (p.Glu1660=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503290G>CCA382805402KMT2Ac.7497G>C (p.Glu2499Asp)
c.7488G>C (p.Glu2496Asp)
c.1437G>C (p.Glu479Asp)
c.1695G>C (p.Glu565Asp)
c.7470G>C (p.Glu2490Asp)
c.7389G>C (p.Glu2463Asp)
n.6740G>C
c.7398G>C (p.Glu2466Asp)
c.7275G>C (p.Glu2425Asp)
n.1525G>C
c.4881G>C (p.Glu1627Asp)
c.7494G>C (p.Glu2498Asp)
c.5304G>C (p.Glu1768Asp)
c.4980G>C (p.Glu1660Asp)
 dbSNP
11g.118503290G=CA2003527682KMT2Ac.7497G= (p.Glu2499=)
c.7488G= (p.Glu2496=)
c.1437G= (p.Glu479=)
c.1695G= (p.Glu565=)
c.7470G= (p.Glu2490=)
c.7389G= (p.Glu2463=)
n.6740G=
c.7398G= (p.Glu2466=)
c.7275G= (p.Glu2425=)
n.1525G=
c.4881G= (p.Glu1627=)
c.7494G= (p.Glu2498=)
c.5304G= (p.Glu1768=)
c.4980G= (p.Glu1660=)
11g.118503290G>TCA382805403KMT2Ac.7497G>T (p.Glu2499Asp)
c.7488G>T (p.Glu2496Asp)
c.1437G>T (p.Glu479Asp)
c.1695G>T (p.Glu565Asp)
c.7470G>T (p.Glu2490Asp)
c.7389G>T (p.Glu2463Asp)
n.6740G>T
c.7398G>T (p.Glu2466Asp)
c.7275G>T (p.Glu2425Asp)
n.1525G>T
c.4881G>T (p.Glu1627Asp)
c.7494G>T (p.Glu2498Asp)
c.5304G>T (p.Glu1768Asp)
c.4980G>T (p.Glu1660Asp)
11g.118503291T>ACA382805405KMT2Ac.7498T>A (p.Phe2500Ile)
c.7489T>A (p.Phe2497Ile)
c.1438T>A (p.Phe480Ile)
c.1696T>A (p.Phe566Ile)
c.7471T>A (p.Phe2491Ile)
c.7390T>A (p.Phe2464Ile)
n.6741T>A
c.7399T>A (p.Phe2467Ile)
c.7276T>A (p.Phe2426Ile)
n.1526T>A
c.4882T>A (p.Phe1628Ile)
c.7495T>A (p.Phe2499Ile)
c.5305T>A (p.Phe1769Ile)
c.4981T>A (p.Phe1661Ile)
11g.118503291T>CCA382805407KMT2Ac.7498T>C (p.Phe2500Leu)
c.7489T>C (p.Phe2497Leu)
c.1438T>C (p.Phe480Leu)
c.1696T>C (p.Phe566Leu)
c.7471T>C (p.Phe2491Leu)
c.7390T>C (p.Phe2464Leu)
n.6741T>C
c.7399T>C (p.Phe2467Leu)
c.7276T>C (p.Phe2426Leu)
n.1526T>C
c.4882T>C (p.Phe1628Leu)
c.7495T>C (p.Phe2499Leu)
c.5305T>C (p.Phe1769Leu)
c.4981T>C (p.Phe1661Leu)
11g.118503291T>GCA382805409KMT2Ac.7498T>G (p.Phe2500Val)
c.7489T>G (p.Phe2497Val)
c.1438T>G (p.Phe480Val)
c.1696T>G (p.Phe566Val)
c.7471T>G (p.Phe2491Val)
c.7390T>G (p.Phe2464Val)
n.6741T>G
c.7399T>G (p.Phe2467Val)
c.7276T>G (p.Phe2426Val)
n.1526T>G
c.4882T>G (p.Phe1628Val)
c.7495T>G (p.Phe2499Val)
c.5305T>G (p.Phe1769Val)
c.4981T>G (p.Phe1661Val)
11g.118503292T>ACA382805410KMT2Ac.7499T>A (p.Phe2500Tyr)
c.7490T>A (p.Phe2497Tyr)
c.1439T>A (p.Phe480Tyr)
c.1697T>A (p.Phe566Tyr)
c.7472T>A (p.Phe2491Tyr)
c.7391T>A (p.Phe2464Tyr)
n.6742T>A
c.7400T>A (p.Phe2467Tyr)
c.7277T>A (p.Phe2426Tyr)
n.1527T>A
c.4883T>A (p.Phe1628Tyr)
c.7496T>A (p.Phe2499Tyr)
c.5306T>A (p.Phe1769Tyr)
c.4982T>A (p.Phe1661Tyr)
11g.118503292T>CCA382805413KMT2Ac.7499T>C (p.Phe2500Ser)
c.7490T>C (p.Phe2497Ser)
c.1439T>C (p.Phe480Ser)
c.1697T>C (p.Phe566Ser)
c.7472T>C (p.Phe2491Ser)
c.7391T>C (p.Phe2464Ser)
n.6742T>C
c.7400T>C (p.Phe2467Ser)
c.7277T>C (p.Phe2426Ser)
n.1527T>C
c.4883T>C (p.Phe1628Ser)
c.7496T>C (p.Phe2499Ser)
c.5306T>C (p.Phe1769Ser)
c.4982T>C (p.Phe1661Ser)
11g.118503292T>GCA382805416KMT2Ac.7499T>G (p.Phe2500Cys)
c.7490T>G (p.Phe2497Cys)
c.1439T>G (p.Phe480Cys)
c.1697T>G (p.Phe566Cys)
c.7472T>G (p.Phe2491Cys)
c.7391T>G (p.Phe2464Cys)
n.6742T>G
c.7400T>G (p.Phe2467Cys)
c.7277T>G (p.Phe2426Cys)
n.1527T>G
c.4883T>G (p.Phe1628Cys)
c.7496T>G (p.Phe2499Cys)
c.5306T>G (p.Phe1769Cys)
c.4982T>G (p.Phe1661Cys)
11g.118503293T>ACA382805418KMT2Ac.7500T>A (p.Phe2500Leu)
c.7491T>A (p.Phe2497Leu)
c.1440T>A (p.Phe480Leu)
c.1698T>A (p.Phe566Leu)
c.7473T>A (p.Phe2491Leu)
c.7392T>A (p.Phe2464Leu)
n.6743T>A
c.7401T>A (p.Phe2467Leu)
c.7278T>A (p.Phe2426Leu)
n.1528T>A
c.4884T>A (p.Phe1628Leu)
c.7497T>A (p.Phe2499Leu)
c.5307T>A (p.Phe1769Leu)
c.4983T>A (p.Phe1661Leu)
11g.118503293T>CCA477359395KMT2Ac.7500T>C (p.Phe2500=)
c.7491T>C (p.Phe2497=)
c.1440T>C (p.Phe480=)
c.1698T>C (p.Phe566=)
c.7473T>C (p.Phe2491=)
c.7392T>C (p.Phe2464=)
n.6743T>C
c.7401T>C (p.Phe2467=)
c.7278T>C (p.Phe2426=)
n.1528T>C
c.4884T>C (p.Phe1628=)
c.7497T>C (p.Phe2499=)
c.5307T>C (p.Phe1769=)
c.4983T>C (p.Phe1661=)
11g.118503293T>GCA382805420KMT2Ac.7500T>G (p.Phe2500Leu)
c.7491T>G (p.Phe2497Leu)
c.1440T>G (p.Phe480Leu)
c.1698T>G (p.Phe566Leu)
c.7473T>G (p.Phe2491Leu)
c.7392T>G (p.Phe2464Leu)
n.6743T>G
c.7401T>G (p.Phe2467Leu)
c.7278T>G (p.Phe2426Leu)
n.1528T>G
c.4884T>G (p.Phe1628Leu)
c.7497T>G (p.Phe2499Leu)
c.5307T>G (p.Phe1769Leu)
c.4983T>G (p.Phe1661Leu)
11g.118503294A>CCA382805422KMT2Ac.7501A>C (p.Met2501Leu)
c.7492A>C (p.Met2498Leu)
c.1441A>C (p.Met481Leu)
c.1699A>C (p.Met567Leu)
c.7474A>C (p.Met2492Leu)
c.7393A>C (p.Met2465Leu)
n.6744A>C
c.7402A>C (p.Met2468Leu)
c.7279A>C (p.Met2427Leu)
n.1529A>C
c.4885A>C (p.Met1629Leu)
c.7498A>C (p.Met2500Leu)
c.5308A>C (p.Met1770Leu)
c.4984A>C (p.Met1662Leu)
 gnomAD v4
11g.118503294A>GCA382805423KMT2Ac.7501A>G (p.Met2501Val)
c.7492A>G (p.Met2498Val)
c.1441A>G (p.Met481Val)
c.1699A>G (p.Met567Val)
c.7474A>G (p.Met2492Val)
c.7393A>G (p.Met2465Val)
n.6744A>G
c.7402A>G (p.Met2468Val)
c.7279A>G (p.Met2427Val)
n.1529A>G
c.4885A>G (p.Met1629Val)
c.7498A>G (p.Met2500Val)
c.5308A>G (p.Met1770Val)
c.4984A>G (p.Met1662Val)
 ClinVar
11g.118503294A>TCA382805425KMT2Ac.7501A>T (p.Met2501Leu)
c.7492A>T (p.Met2498Leu)
c.1441A>T (p.Met481Leu)
c.1699A>T (p.Met567Leu)
c.7474A>T (p.Met2492Leu)
c.7393A>T (p.Met2465Leu)
n.6744A>T
c.7402A>T (p.Met2468Leu)
c.7279A>T (p.Met2427Leu)
n.1529A>T
c.4885A>T (p.Met1629Leu)
c.7498A>T (p.Met2500Leu)
c.5308A>T (p.Met1770Leu)
c.4984A>T (p.Met1662Leu)
 ClinVar dbSNP
11g.118503295T>ACA382805428KMT2Ac.7502T>A (p.Met2501Lys)
c.7493T>A (p.Met2498Lys)
c.1442T>A (p.Met481Lys)
c.1700T>A (p.Met567Lys)
c.7475T>A (p.Met2492Lys)
c.7394T>A (p.Met2465Lys)
n.6745T>A
c.7403T>A (p.Met2468Lys)
c.7280T>A (p.Met2427Lys)
n.1530T>A
c.4886T>A (p.Met1629Lys)
c.7499T>A (p.Met2500Lys)
c.5309T>A (p.Met1770Lys)
c.4985T>A (p.Met1662Lys)
11g.118503295T>CCA382805429KMT2Ac.7502T>C (p.Met2501Thr)
c.7493T>C (p.Met2498Thr)
c.1442T>C (p.Met481Thr)
c.1700T>C (p.Met567Thr)
c.7475T>C (p.Met2492Thr)
c.7394T>C (p.Met2465Thr)
n.6745T>C
c.7403T>C (p.Met2468Thr)
c.7280T>C (p.Met2427Thr)
n.1530T>C
c.4886T>C (p.Met1629Thr)
c.7499T>C (p.Met2500Thr)
c.5309T>C (p.Met1770Thr)
c.4985T>C (p.Met1662Thr)
11g.118503295T>GCA382805431KMT2Ac.7502T>G (p.Met2501Arg)
c.7493T>G (p.Met2498Arg)
c.1442T>G (p.Met481Arg)
c.1700T>G (p.Met567Arg)
c.7475T>G (p.Met2492Arg)
c.7394T>G (p.Met2465Arg)
n.6745T>G
c.7403T>G (p.Met2468Arg)
c.7280T>G (p.Met2427Arg)
n.1530T>G
c.4886T>G (p.Met1629Arg)
c.7499T>G (p.Met2500Arg)
c.5309T>G (p.Met1770Arg)
c.4985T>G (p.Met1662Arg)
11g.118503296G>ACA382805433KMT2Ac.7503G>A (p.Met2501Ile)
c.7494G>A (p.Met2498Ile)
c.1443G>A (p.Met481Ile)
c.1701G>A (p.Met567Ile)
c.7476G>A (p.Met2492Ile)
c.7395G>A (p.Met2465Ile)
n.6746G>A
c.7404G>A (p.Met2468Ile)
c.7281G>A (p.Met2427Ile)
n.1531G>A
c.4887G>A (p.Met1629Ile)
c.7500G>A (p.Met2500Ile)
c.5310G>A (p.Met1770Ile)
c.4986G>A (p.Met1662Ile)
11g.118503296G>CCA382805435KMT2Ac.7503G>C (p.Met2501Ile)
c.7494G>C (p.Met2498Ile)
c.1443G>C (p.Met481Ile)
c.1701G>C (p.Met567Ile)
c.7476G>C (p.Met2492Ile)
c.7395G>C (p.Met2465Ile)
n.6746G>C
c.7404G>C (p.Met2468Ile)
c.7281G>C (p.Met2427Ile)
n.1531G>C
c.4887G>C (p.Met1629Ile)
c.7500G>C (p.Met2500Ile)
c.5310G>C (p.Met1770Ile)
c.4986G>C (p.Met1662Ile)
11g.118503296G>TCA382805436KMT2Ac.7503G>T (p.Met2501Ile)
c.7494G>T (p.Met2498Ile)
c.1443G>T (p.Met481Ile)
c.1701G>T (p.Met567Ile)
c.7476G>T (p.Met2492Ile)
c.7395G>T (p.Met2465Ile)
n.6746G>T
c.7404G>T (p.Met2468Ile)
c.7281G>T (p.Met2427Ile)
n.1531G>T
c.4887G>T (p.Met1629Ile)
c.7500G>T (p.Met2500Ile)
c.5310G>T (p.Met1770Ile)
c.4986G>T (p.Met1662Ile)
11g.118503297G>ACA382805438KMT2Ac.7504G>A (p.Asp2502Asn)
c.7495G>A (p.Asp2499Asn)
c.1444G>A (p.Asp482Asn)
c.1702G>A (p.Asp568Asn)
c.7477G>A (p.Asp2493Asn)
c.7396G>A (p.Asp2466Asn)
n.6747G>A
c.7405G>A (p.Asp2469Asn)
c.7282G>A (p.Asp2428Asn)
n.1532G>A
c.4888G>A (p.Asp1630Asn)
c.7501G>A (p.Asp2501Asn)
c.5311G>A (p.Asp1771Asn)
c.4987G>A (p.Asp1663Asn)
11g.118503297G>CCA382805440KMT2Ac.7504G>C (p.Asp2502His)
c.7495G>C (p.Asp2499His)
c.1444G>C (p.Asp482His)
c.1702G>C (p.Asp568His)
c.7477G>C (p.Asp2493His)
c.7396G>C (p.Asp2466His)
n.6747G>C
c.7405G>C (p.Asp2469His)
c.7282G>C (p.Asp2428His)
n.1532G>C
c.4888G>C (p.Asp1630His)
c.7501G>C (p.Asp2501His)
c.5311G>C (p.Asp1771His)
c.4987G>C (p.Asp1663His)
11g.118503297G>TCA382805442KMT2Ac.7504G>T (p.Asp2502Tyr)
c.7495G>T (p.Asp2499Tyr)
c.1444G>T (p.Asp482Tyr)
c.1702G>T (p.Asp568Tyr)
c.7477G>T (p.Asp2493Tyr)
c.7396G>T (p.Asp2466Tyr)
n.6747G>T
c.7405G>T (p.Asp2469Tyr)
c.7282G>T (p.Asp2428Tyr)
n.1532G>T
c.4888G>T (p.Asp1630Tyr)
c.7501G>T (p.Asp2501Tyr)
c.5311G>T (p.Asp1771Tyr)
c.4987G>T (p.Asp1663Tyr)
11g.118503298A>CCA382805447KMT2Ac.7505A>C (p.Asp2502Ala)
c.7496A>C (p.Asp2499Ala)
c.1445A>C (p.Asp482Ala)
c.1703A>C (p.Asp568Ala)
c.7478A>C (p.Asp2493Ala)
c.7397A>C (p.Asp2466Ala)
n.6748A>C
c.7406A>C (p.Asp2469Ala)
c.7283A>C (p.Asp2428Ala)
n.1533A>C
c.4889A>C (p.Asp1630Ala)
c.7502A>C (p.Asp2501Ala)
c.5312A>C (p.Asp1771Ala)
c.4988A>C (p.Asp1663Ala)
11g.118503298A>GCA382805448KMT2Ac.7505A>G (p.Asp2502Gly)
c.7496A>G (p.Asp2499Gly)
c.1445A>G (p.Asp482Gly)
c.1703A>G (p.Asp568Gly)
c.7478A>G (p.Asp2493Gly)
c.7397A>G (p.Asp2466Gly)
n.6748A>G
c.7406A>G (p.Asp2469Gly)
c.7283A>G (p.Asp2428Gly)
n.1533A>G
c.4889A>G (p.Asp1630Gly)
c.7502A>G (p.Asp2501Gly)
c.5312A>G (p.Asp1771Gly)
c.4988A>G (p.Asp1663Gly)
 gnomAD v4
11g.118503298A>TCA382805445KMT2Ac.7505A>T (p.Asp2502Val)
c.7496A>T (p.Asp2499Val)
c.1445A>T (p.Asp482Val)
c.1703A>T (p.Asp568Val)
c.7478A>T (p.Asp2493Val)
c.7397A>T (p.Asp2466Val)
n.6748A>T
c.7406A>T (p.Asp2469Val)
c.7283A>T (p.Asp2428Val)
n.1533A>T
c.4889A>T (p.Asp1630Val)
c.7502A>T (p.Asp2501Val)
c.5312A>T (p.Asp1771Val)
c.4988A>T (p.Asp1663Val)
 ClinVar gnomAD v4
11g.118503299T>ACA382805450KMT2Ac.7506T>A (p.Asp2502Glu)
c.7497T>A (p.Asp2499Glu)
c.1446T>A (p.Asp482Glu)
c.1704T>A (p.Asp568Glu)
c.7479T>A (p.Asp2493Glu)
c.7398T>A (p.Asp2466Glu)
n.6749T>A
c.7407T>A (p.Asp2469Glu)
c.7284T>A (p.Asp2428Glu)
n.1534T>A
c.4890T>A (p.Asp1630Glu)
c.7503T>A (p.Asp2501Glu)
c.5313T>A (p.Asp1771Glu)
c.4989T>A (p.Asp1663Glu)
11g.118503299T>CCA477359401KMT2Ac.7506T>C (p.Asp2502=)
c.7497T>C (p.Asp2499=)
c.1446T>C (p.Asp482=)
c.1704T>C (p.Asp568=)
c.7479T>C (p.Asp2493=)
c.7398T>C (p.Asp2466=)
n.6749T>C
c.7407T>C (p.Asp2469=)
c.7284T>C (p.Asp2428=)
n.1534T>C
c.4890T>C (p.Asp1630=)
c.7503T>C (p.Asp2501=)
c.5313T>C (p.Asp1771=)
c.4989T>C (p.Asp1663=)
11g.118503299T>GCA382805452KMT2Ac.7506T>G (p.Asp2502Glu)
c.7497T>G (p.Asp2499Glu)
c.1446T>G (p.Asp482Glu)
c.1704T>G (p.Asp568Glu)
c.7479T>G (p.Asp2493Glu)
c.7398T>G (p.Asp2466Glu)
n.6749T>G
c.7407T>G (p.Asp2469Glu)
c.7284T>G (p.Asp2428Glu)
n.1534T>G
c.4890T>G (p.Asp1630Glu)
c.7503T>G (p.Asp2501Glu)
c.5313T>G (p.Asp1771Glu)
c.4989T>G (p.Asp1663Glu)
11g.118503300G>ACA382805454KMT2Ac.7507G>A (p.Glu2503Lys)
c.7498G>A (p.Glu2500Lys)
c.1447G>A (p.Glu483Lys)
c.1705G>A (p.Glu569Lys)
c.7480G>A (p.Glu2494Lys)
c.7399G>A (p.Glu2467Lys)
n.6750G>A
c.7408G>A (p.Glu2470Lys)
c.7285G>A (p.Glu2429Lys)
n.1535G>A
c.4891G>A (p.Glu1631Lys)
c.7504G>A (p.Glu2502Lys)
c.5314G>A (p.Glu1772Lys)
c.4990G>A (p.Glu1664Lys)
 dbSNP gnomAD v4
11g.118503300G>CCA382805455KMT2Ac.7507G>C (p.Glu2503Gln)
c.7498G>C (p.Glu2500Gln)
c.1447G>C (p.Glu483Gln)
c.1705G>C (p.Glu569Gln)
c.7480G>C (p.Glu2494Gln)
c.7399G>C (p.Glu2467Gln)
n.6750G>C
c.7408G>C (p.Glu2470Gln)
c.7285G>C (p.Glu2429Gln)
n.1535G>C
c.4891G>C (p.Glu1631Gln)
c.7504G>C (p.Glu2502Gln)
c.5314G>C (p.Glu1772Gln)
c.4990G>C (p.Glu1664Gln)
11g.118503300G=CA2003527686KMT2Ac.7507G= (p.Glu2503=)
c.7498G= (p.Glu2500=)
c.1447G= (p.Glu483=)
c.1705G= (p.Glu569=)
c.7480G= (p.Glu2494=)
c.7399G= (p.Glu2467=)
n.6750G=
c.7408G= (p.Glu2470=)
c.7285G= (p.Glu2429=)
n.1535G=
c.4891G= (p.Glu1631=)
c.7504G= (p.Glu2502=)
c.5314G= (p.Glu1772=)
c.4990G= (p.Glu1664=)
11g.118503300G>TCA382805457KMT2Ac.7507G>T (p.Glu2503Ter)
c.7498G>T (p.Glu2500Ter)
c.1447G>T (p.Glu483Ter)
c.1705G>T (p.Glu569Ter)
c.7480G>T (p.Glu2494Ter)
c.7399G>T (p.Glu2467Ter)
n.6750G>T
c.7408G>T (p.Glu2470Ter)
c.7285G>T (p.Glu2429Ter)
n.1535G>T
c.4891G>T (p.Glu1631Ter)
c.7504G>T (p.Glu2502Ter)
c.5314G>T (p.Glu1772Ter)
c.4990G>T (p.Glu1664Ter)
11g.118503301A=CA2003527691KMT2Ac.7508A= (p.Glu2503=)
c.7499A= (p.Glu2500=)
c.1448A= (p.Glu483=)
c.1706A= (p.Glu569=)
c.7481A= (p.Glu2494=)
c.7400A= (p.Glu2467=)
n.6751A=
c.7409A= (p.Glu2470=)
c.7286A= (p.Glu2429=)
n.1536A=
c.4892A= (p.Glu1631=)
c.7505A= (p.Glu2502=)
c.5315A= (p.Glu1772=)
c.4991A= (p.Glu1664=)
11g.118503301A>CCA382805462KMT2Ac.7508A>C (p.Glu2503Ala)
c.7499A>C (p.Glu2500Ala)
c.1448A>C (p.Glu483Ala)
c.1706A>C (p.Glu569Ala)
c.7481A>C (p.Glu2494Ala)
c.7400A>C (p.Glu2467Ala)
n.6751A>C
c.7409A>C (p.Glu2470Ala)
c.7286A>C (p.Glu2429Ala)
n.1536A>C
c.4892A>C (p.Glu1631Ala)
c.7505A>C (p.Glu2502Ala)
c.5315A>C (p.Glu1772Ala)
c.4991A>C (p.Glu1664Ala)
11g.118503301A>GCA6304395KMT2Ac.7508A>G (p.Glu2503Gly)
c.7499A>G (p.Glu2500Gly)
c.1448A>G (p.Glu483Gly)
c.1706A>G (p.Glu569Gly)
c.7481A>G (p.Glu2494Gly)
c.7400A>G (p.Glu2467Gly)
n.6751A>G
c.7409A>G (p.Glu2470Gly)
c.7286A>G (p.Glu2429Gly)
n.1536A>G
c.4892A>G (p.Glu1631Gly)
c.7505A>G (p.Glu2502Gly)
c.5315A>G (p.Glu1772Gly)
c.4991A>G (p.Glu1664Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503301A>TCA382805461KMT2Ac.7508A>T (p.Glu2503Val)
c.7499A>T (p.Glu2500Val)
c.1448A>T (p.Glu483Val)
c.1706A>T (p.Glu569Val)
c.7481A>T (p.Glu2494Val)
c.7400A>T (p.Glu2467Val)
n.6751A>T
c.7409A>T (p.Glu2470Val)
c.7286A>T (p.Glu2429Val)
n.1536A>T
c.4892A>T (p.Glu1631Val)
c.7505A>T (p.Glu2502Val)
c.5315A>T (p.Glu1772Val)
c.4991A>T (p.Glu1664Val)
11g.118503302G>ACA477359405KMT2Ac.7509G>A (p.Glu2503=)
c.7500G>A (p.Glu2500=)
c.1449G>A (p.Glu483=)
c.1707G>A (p.Glu569=)
c.7482G>A (p.Glu2494=)
c.7401G>A (p.Glu2467=)
n.6752G>A
c.7410G>A (p.Glu2470=)
c.7287G>A (p.Glu2429=)
n.1537G>A
c.4893G>A (p.Glu1631=)
c.7506G>A (p.Glu2502=)
c.5316G>A (p.Glu1772=)
c.4992G>A (p.Glu1664=)
 gnomAD v4
11g.118503302G>CCA382805464KMT2Ac.7509G>C (p.Glu2503Asp)
c.7500G>C (p.Glu2500Asp)
c.1449G>C (p.Glu483Asp)
c.1707G>C (p.Glu569Asp)
c.7482G>C (p.Glu2494Asp)
c.7401G>C (p.Glu2467Asp)
n.6752G>C
c.7410G>C (p.Glu2470Asp)
c.7287G>C (p.Glu2429Asp)
n.1537G>C
c.4893G>C (p.Glu1631Asp)
c.7506G>C (p.Glu2502Asp)
c.5316G>C (p.Glu1772Asp)
c.4992G>C (p.Glu1664Asp)
11g.118503302G>TCA382805466KMT2Ac.7509G>T (p.Glu2503Asp)
c.7500G>T (p.Glu2500Asp)
c.1449G>T (p.Glu483Asp)
c.1707G>T (p.Glu569Asp)
c.7482G>T (p.Glu2494Asp)
c.7401G>T (p.Glu2467Asp)
n.6752G>T
c.7410G>T (p.Glu2470Asp)
c.7287G>T (p.Glu2429Asp)
n.1537G>T
c.4893G>T (p.Glu1631Asp)
c.7506G>T (p.Glu2502Asp)
c.5316G>T (p.Glu1772Asp)
c.4992G>T (p.Glu1664Asp)
11g.118503303G>ACA382805468KMT2Ac.7510G>A (p.Val2504Ile)
c.7501G>A (p.Val2501Ile)
c.1450G>A (p.Val484Ile)
c.1708G>A (p.Val570Ile)
c.7483G>A (p.Val2495Ile)
c.7402G>A (p.Val2468Ile)
n.6753G>A
c.7411G>A (p.Val2471Ile)
c.7288G>A (p.Val2430Ile)
n.1538G>A
c.4894G>A (p.Val1632Ile)
c.7507G>A (p.Val2503Ile)
c.5317G>A (p.Val1773Ile)
c.4993G>A (p.Val1665Ile)
11g.118503303G>CCA382805470KMT2Ac.7510G>C (p.Val2504Leu)
c.7501G>C (p.Val2501Leu)
c.1450G>C (p.Val484Leu)
c.1708G>C (p.Val570Leu)
c.7483G>C (p.Val2495Leu)
c.7402G>C (p.Val2468Leu)
n.6753G>C
c.7411G>C (p.Val2471Leu)
c.7288G>C (p.Val2430Leu)
n.1538G>C
c.4894G>C (p.Val1632Leu)
c.7507G>C (p.Val2503Leu)
c.5317G>C (p.Val1773Leu)
c.4993G>C (p.Val1665Leu)
11g.118503303G>TCA382805471KMT2Ac.7510G>T (p.Val2504Phe)
c.7501G>T (p.Val2501Phe)
c.1450G>T (p.Val484Phe)
c.1708G>T (p.Val570Phe)
c.7483G>T (p.Val2495Phe)
c.7402G>T (p.Val2468Phe)
n.6753G>T
c.7411G>T (p.Val2471Phe)
c.7288G>T (p.Val2430Phe)
n.1538G>T
c.4894G>T (p.Val1632Phe)
c.7507G>T (p.Val2503Phe)
c.5317G>T (p.Val1773Phe)
c.4993G>T (p.Val1665Phe)
 gnomAD v4
11g.118503304T>ACA382805478KMT2Ac.7511T>A (p.Val2504Asp)
c.7502T>A (p.Val2501Asp)
c.1451T>A (p.Val484Asp)
c.1709T>A (p.Val570Asp)
c.7484T>A (p.Val2495Asp)
c.7403T>A (p.Val2468Asp)
n.6754T>A
c.7412T>A (p.Val2471Asp)
c.7289T>A (p.Val2430Asp)
n.1539T>A
c.4895T>A (p.Val1632Asp)
c.7508T>A (p.Val2503Asp)
c.5318T>A (p.Val1773Asp)
c.4994T>A (p.Val1665Asp)
11g.118503304T>CCA382805474KMT2Ac.7511T>C (p.Val2504Ala)
c.7502T>C (p.Val2501Ala)
c.1451T>C (p.Val484Ala)
c.1709T>C (p.Val570Ala)
c.7484T>C (p.Val2495Ala)
c.7403T>C (p.Val2468Ala)
n.6754T>C
c.7412T>C (p.Val2471Ala)
c.7289T>C (p.Val2430Ala)
n.1539T>C
c.4895T>C (p.Val1632Ala)
c.7508T>C (p.Val2503Ala)
c.5318T>C (p.Val1773Ala)
c.4994T>C (p.Val1665Ala)
11g.118503304T>GCA382805476KMT2Ac.7511T>G (p.Val2504Gly)
c.7502T>G (p.Val2501Gly)
c.1451T>G (p.Val484Gly)
c.1709T>G (p.Val570Gly)
c.7484T>G (p.Val2495Gly)
c.7403T>G (p.Val2468Gly)
n.6754T>G
c.7412T>G (p.Val2471Gly)
c.7289T>G (p.Val2430Gly)
n.1539T>G
c.4895T>G (p.Val1632Gly)
c.7508T>G (p.Val2503Gly)
c.5318T>G (p.Val1773Gly)
c.4994T>G (p.Val1665Gly)
11g.118503307delCA2725086150KMT2Ac.7514del (p.Leu2505Ter)
c.7505del (p.Leu2502Ter)
c.1454del (p.Leu485Ter)
c.1712del (p.Leu571Ter)
c.7487del (p.Leu2496Ter)
c.7406del (p.Leu2469Ter)
n.6757del
c.7415del (p.Leu2472Ter)
c.7292del (p.Leu2431Ter)
n.1542del
c.4898del (p.Leu1633Ter)
c.7511del (p.Leu2504Ter)
c.5321del (p.Leu1774Ter)
c.4997del (p.Leu1666Ter)
 dbSNP
11g.118503305T>ACA477359409KMT2Ac.7512T>A (p.Val2504=)
c.7503T>A (p.Val2501=)
c.1452T>A (p.Val484=)
c.1710T>A (p.Val570=)
c.7485T>A (p.Val2495=)
c.7404T>A (p.Val2468=)
n.6755T>A
c.7413T>A (p.Val2471=)
c.7290T>A (p.Val2430=)
n.1540T>A
c.4896T>A (p.Val1632=)
c.7509T>A (p.Val2503=)
c.5319T>A (p.Val1773=)
c.4995T>A (p.Val1665=)
11g.118503305T>CCA477359410KMT2Ac.7512T>C (p.Val2504=)
c.7503T>C (p.Val2501=)
c.1452T>C (p.Val484=)
c.1710T>C (p.Val570=)
c.7485T>C (p.Val2495=)
c.7404T>C (p.Val2468=)
n.6755T>C
c.7413T>C (p.Val2471=)
c.7290T>C (p.Val2430=)
n.1540T>C
c.4896T>C (p.Val1632=)
c.7509T>C (p.Val2503=)
c.5319T>C (p.Val1773=)
c.4995T>C (p.Val1665=)
 gnomAD v4
11g.118503305T>GCA477359411KMT2Ac.7512T>G (p.Val2504=)
c.7503T>G (p.Val2501=)
c.1452T>G (p.Val484=)
c.1710T>G (p.Val570=)
c.7485T>G (p.Val2495=)
c.7404T>G (p.Val2468=)
n.6755T>G
c.7413T>G (p.Val2471=)
c.7290T>G (p.Val2430=)
n.1540T>G
c.4896T>G (p.Val1632=)
c.7509T>G (p.Val2503=)
c.5319T>G (p.Val1773=)
c.4995T>G (p.Val1665=)
 gnomAD v4
11g.118503306T>ACA382805480KMT2Ac.7513T>A (p.Leu2505Met)
c.7504T>A (p.Leu2502Met)
c.1453T>A (p.Leu485Met)
c.1711T>A (p.Leu571Met)
c.7486T>A (p.Leu2496Met)
c.7405T>A (p.Leu2469Met)
n.6756T>A
c.7414T>A (p.Leu2472Met)
c.7291T>A (p.Leu2431Met)
n.1541T>A
c.4897T>A (p.Leu1633Met)
c.7510T>A (p.Leu2504Met)
c.5320T>A (p.Leu1774Met)
c.4996T>A (p.Leu1666Met)
11g.118503306T>CCA477359413KMT2Ac.7513T>C (p.Leu2505=)
c.7504T>C (p.Leu2502=)
c.1453T>C (p.Leu485=)
c.1711T>C (p.Leu571=)
c.7486T>C (p.Leu2496=)
c.7405T>C (p.Leu2469=)
n.6756T>C
c.7414T>C (p.Leu2472=)
c.7291T>C (p.Leu2431=)
n.1541T>C
c.4897T>C (p.Leu1633=)
c.7510T>C (p.Leu2504=)
c.5320T>C (p.Leu1774=)
c.4996T>C (p.Leu1666=)
11g.118503306T>GCA382805481KMT2Ac.7513T>G (p.Leu2505Val)
c.7504T>G (p.Leu2502Val)
c.1453T>G (p.Leu485Val)
c.1711T>G (p.Leu571Val)
c.7486T>G (p.Leu2496Val)
c.7405T>G (p.Leu2469Val)
n.6756T>G
c.7414T>G (p.Leu2472Val)
c.7291T>G (p.Leu2431Val)
n.1541T>G
c.4897T>G (p.Leu1633Val)
c.7510T>G (p.Leu2504Val)
c.5320T>G (p.Leu1774Val)
c.4996T>G (p.Leu1666Val)
11g.118503307T>ACA382805482KMT2Ac.7514T>A (p.Leu2505Ter)
c.7505T>A (p.Leu2502Ter)
c.1454T>A (p.Leu485Ter)
c.1712T>A (p.Leu571Ter)
c.7487T>A (p.Leu2496Ter)
c.7406T>A (p.Leu2469Ter)
n.6757T>A
c.7415T>A (p.Leu2472Ter)
c.7292T>A (p.Leu2431Ter)
n.1542T>A
c.4898T>A (p.Leu1633Ter)
c.7511T>A (p.Leu2504Ter)
c.5321T>A (p.Leu1774Ter)
c.4997T>A (p.Leu1666Ter)
11g.118503307T>CCA382805485KMT2Ac.7514T>C (p.Leu2505Ser)
c.7505T>C (p.Leu2502Ser)
c.1454T>C (p.Leu485Ser)
c.1712T>C (p.Leu571Ser)
c.7487T>C (p.Leu2496Ser)
c.7406T>C (p.Leu2469Ser)
n.6757T>C
c.7415T>C (p.Leu2472Ser)
c.7292T>C (p.Leu2431Ser)
n.1542T>C
c.4898T>C (p.Leu1633Ser)
c.7511T>C (p.Leu2504Ser)
c.5321T>C (p.Leu1774Ser)
c.4997T>C (p.Leu1666Ser)
11g.118503307T>GCA382805483KMT2Ac.7514T>G (p.Leu2505Trp)
c.7505T>G (p.Leu2502Trp)
c.1454T>G (p.Leu485Trp)
c.1712T>G (p.Leu571Trp)
c.7487T>G (p.Leu2496Trp)
c.7406T>G (p.Leu2469Trp)
n.6757T>G
c.7415T>G (p.Leu2472Trp)
c.7292T>G (p.Leu2431Trp)
n.1542T>G
c.4898T>G (p.Leu1633Trp)
c.7511T>G (p.Leu2504Trp)
c.5321T>G (p.Leu1774Trp)
c.4997T>G (p.Leu1666Trp)
11g.118503308G>ACA477359415KMT2Ac.7515G>A (p.Leu2505=)
c.7506G>A (p.Leu2502=)
c.1455G>A (p.Leu485=)
c.1713G>A (p.Leu571=)
c.7488G>A (p.Leu2496=)
c.7407G>A (p.Leu2469=)
n.6758G>A
c.7416G>A (p.Leu2472=)
c.7293G>A (p.Leu2431=)
n.1543G>A
c.4899G>A (p.Leu1633=)
c.7512G>A (p.Leu2504=)
c.5322G>A (p.Leu1774=)
c.4998G>A (p.Leu1666=)
11g.118503308G>CCA382805486KMT2Ac.7515G>C (p.Leu2505Phe)
c.7506G>C (p.Leu2502Phe)
c.1455G>C (p.Leu485Phe)
c.1713G>C (p.Leu571Phe)
c.7488G>C (p.Leu2496Phe)
c.7407G>C (p.Leu2469Phe)
n.6758G>C
c.7416G>C (p.Leu2472Phe)
c.7293G>C (p.Leu2431Phe)
n.1543G>C
c.4899G>C (p.Leu1633Phe)
c.7512G>C (p.Leu2504Phe)
c.5322G>C (p.Leu1774Phe)
c.4998G>C (p.Leu1666Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503308G=CA2003527696KMT2Ac.7515G= (p.Leu2505=)
c.7506G= (p.Leu2502=)
c.1455G= (p.Leu485=)
c.1713G= (p.Leu571=)
c.7488G= (p.Leu2496=)
c.7407G= (p.Leu2469=)
n.6758G=
c.7416G= (p.Leu2472=)
c.7293G= (p.Leu2431=)
n.1543G=
c.4899G= (p.Leu1633=)
c.7512G= (p.Leu2504=)
c.5322G= (p.Leu1774=)
c.4998G= (p.Leu1666=)
11g.118503308G>TCA382805488KMT2Ac.7515G>T (p.Leu2505Phe)
c.7506G>T (p.Leu2502Phe)
c.1455G>T (p.Leu485Phe)
c.1713G>T (p.Leu571Phe)
c.7488G>T (p.Leu2496Phe)
c.7407G>T (p.Leu2469Phe)
n.6758G>T
c.7416G>T (p.Leu2472Phe)
c.7293G>T (p.Leu2431Phe)
n.1543G>T
c.4899G>T (p.Leu1633Phe)
c.7512G>T (p.Leu2504Phe)
c.5322G>T (p.Leu1774Phe)
c.4998G>T (p.Leu1666Phe)
11g.118503309A>CCA382805490KMT2Ac.7516A>C (p.Thr2506Pro)
c.7507A>C (p.Thr2503Pro)
c.1456A>C (p.Thr486Pro)
c.1714A>C (p.Thr572Pro)
c.7489A>C (p.Thr2497Pro)
c.7408A>C (p.Thr2470Pro)
n.6759A>C
c.7417A>C (p.Thr2473Pro)
c.7294A>C (p.Thr2432Pro)
n.1544A>C
c.4900A>C (p.Thr1634Pro)
c.7513A>C (p.Thr2505Pro)
c.5323A>C (p.Thr1775Pro)
c.4999A>C (p.Thr1667Pro)
11g.118503309A>GCA382805492KMT2Ac.7516A>G (p.Thr2506Ala)
c.7507A>G (p.Thr2503Ala)
c.1456A>G (p.Thr486Ala)
c.1714A>G (p.Thr572Ala)
c.7489A>G (p.Thr2497Ala)
c.7408A>G (p.Thr2470Ala)
n.6759A>G
c.7417A>G (p.Thr2473Ala)
c.7294A>G (p.Thr2432Ala)
n.1544A>G
c.4900A>G (p.Thr1634Ala)
c.7513A>G (p.Thr2505Ala)
c.5323A>G (p.Thr1775Ala)
c.4999A>G (p.Thr1667Ala)
11g.118503309A>TCA382805494KMT2Ac.7516A>T (p.Thr2506Ser)
c.7507A>T (p.Thr2503Ser)
c.1456A>T (p.Thr486Ser)
c.1714A>T (p.Thr572Ser)
c.7489A>T (p.Thr2497Ser)
c.7408A>T (p.Thr2470Ser)
n.6759A>T
c.7417A>T (p.Thr2473Ser)
c.7294A>T (p.Thr2432Ser)
n.1544A>T
c.4900A>T (p.Thr1634Ser)
c.7513A>T (p.Thr2505Ser)
c.5323A>T (p.Thr1775Ser)
c.4999A>T (p.Thr1667Ser)
 dbSNP
11g.118503310C>ACA382805496KMT2Ac.7517C>A (p.Thr2506Asn)
c.7508C>A (p.Thr2503Asn)
c.1457C>A (p.Thr486Asn)
c.1715C>A (p.Thr572Asn)
c.7490C>A (p.Thr2497Asn)
c.7409C>A (p.Thr2470Asn)
n.6760C>A
c.7418C>A (p.Thr2473Asn)
c.7295C>A (p.Thr2432Asn)
n.1545C>A
c.4901C>A (p.Thr1634Asn)
c.7514C>A (p.Thr2505Asn)
c.5324C>A (p.Thr1775Asn)
c.5000C>A (p.Thr1667Asn)
 dbSNP
11g.118503310C>GCA382805498KMT2Ac.7517C>G (p.Thr2506Ser)
c.7508C>G (p.Thr2503Ser)
c.1457C>G (p.Thr486Ser)
c.1715C>G (p.Thr572Ser)
c.7490C>G (p.Thr2497Ser)
c.7409C>G (p.Thr2470Ser)
n.6760C>G
c.7418C>G (p.Thr2473Ser)
c.7295C>G (p.Thr2432Ser)
n.1545C>G
c.4901C>G (p.Thr1634Ser)
c.7514C>G (p.Thr2505Ser)
c.5324C>G (p.Thr1775Ser)
c.5000C>G (p.Thr1667Ser)
 dbSNP
11g.118503310C>TCA382805500KMT2Ac.7517C>T (p.Thr2506Ile)
c.7508C>T (p.Thr2503Ile)
c.1457C>T (p.Thr486Ile)
c.1715C>T (p.Thr572Ile)
c.7490C>T (p.Thr2497Ile)
c.7409C>T (p.Thr2470Ile)
n.6760C>T
c.7418C>T (p.Thr2473Ile)
c.7295C>T (p.Thr2432Ile)
n.1545C>T
c.4901C>T (p.Thr1634Ile)
c.7514C>T (p.Thr2505Ile)
c.5324C>T (p.Thr1775Ile)
c.5000C>T (p.Thr1667Ile)
 dbSNP gnomAD v4

Number of alleles fetched