Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35733024C>ACA405428734KMT2Bn.781C>A
c.6409C>A (p.Pro2137Thr)
c.4016C>A (n.4016C>A)
c.1693C>A (p.Pro565Thr)
n.1628C>A
c.1696C>A (p.Pro566Thr)
c.6017C>A
c.6475C>A (p.Pro2159Thr)
c.705-573C>A (n.705-573C>A)
c.3797C>A
c.6199C>A (p.Pro2067Thr)
c.5911C>A (p.Pro1971Thr)
c.3439C>A (p.Pro1147Thr)
19g.35733024C=CA2333794614KMT2Bn.781C=
c.6409C= (p.Pro2137=)
c.4016C= (n.4016C=)
c.1693C= (p.Pro565=)
n.1628C=
c.1696C= (p.Pro566=)
c.6017C=
c.6475C= (p.Pro2159=)
c.705-573C= (n.705-573C=)
c.3797C=
c.6199C= (p.Pro2067=)
c.5911C= (p.Pro1971=)
c.3439C= (p.Pro1147=)
19g.35733024C>GCA9385695KMT2Bn.781C>G
c.6409C>G (p.Pro2137Ala)
c.4016C>G (n.4016C>G)
c.1693C>G (p.Pro565Ala)
n.1628C>G
c.1696C>G (p.Pro566Ala)
c.6017C>G
c.6475C>G (p.Pro2159Ala)
c.705-573C>G (n.705-573C>G)
c.3797C>G
c.6199C>G (p.Pro2067Ala)
c.5911C>G (p.Pro1971Ala)
c.3439C>G (p.Pro1147Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35733024C>TCA405428737KMT2Bn.781C>T
c.6409C>T (p.Pro2137Ser)
c.4016C>T (n.4016C>T)
c.1693C>T (p.Pro565Ser)
n.1628C>T
c.1696C>T (p.Pro566Ser)
c.6017C>T
c.6475C>T (p.Pro2159Ser)
c.705-573C>T (n.705-573C>T)
c.3797C>T
c.6199C>T (p.Pro2067Ser)
c.5911C>T (p.Pro1971Ser)
c.3439C>T (p.Pro1147Ser)
dbSNP gnomAD v2
19g.35733025C>ACA405428742KMT2Bn.782C>A
c.6410C>A (p.Pro2137His)
c.4017C>A (n.4017C>A)
c.1694C>A (p.Pro565His)
n.1629C>A
c.1697C>A (p.Pro566His)
c.6018C>A
c.6476C>A (p.Pro2159His)
c.705-572C>A (n.705-572C>A)
c.3798C>A
c.6200C>A (p.Pro2067His)
c.5912C>A (p.Pro1971His)
c.3440C>A (p.Pro1147His)
gnomAD v4
19g.35733025C>GCA405428744KMT2Bn.782C>G
c.6410C>G (p.Pro2137Arg)
c.4017C>G (n.4017C>G)
c.1694C>G (p.Pro565Arg)
n.1629C>G
c.1697C>G (p.Pro566Arg)
c.6018C>G
c.6476C>G (p.Pro2159Arg)
c.705-572C>G (n.705-572C>G)
c.3798C>G
c.6200C>G (p.Pro2067Arg)
c.5912C>G (p.Pro1971Arg)
c.3440C>G (p.Pro1147Arg)
19g.35733025C>TCA405428746KMT2Bn.782C>T
c.6410C>T (p.Pro2137Leu)
c.4017C>T (n.4017C>T)
c.1694C>T (p.Pro565Leu)
n.1629C>T
c.1697C>T (p.Pro566Leu)
c.6018C>T
c.6476C>T (p.Pro2159Leu)
c.705-572C>T (n.705-572C>T)
c.3798C>T
c.6200C>T (p.Pro2067Leu)
c.5912C>T (p.Pro1971Leu)
c.3440C>T (p.Pro1147Leu)
gnomAD v4
19g.35733026C>ACA507309092KMT2Bn.783C>A
c.6411C>A (p.Pro2137=)
c.4018C>A (n.4018C>A)
c.1695C>A (p.Pro565=)
n.1630C>A
c.1698C>A (p.Pro566=)
c.6019C>A
c.6477C>A (p.Pro2159=)
c.705-571C>A (n.705-571C>A)
c.3799C>A
c.6201C>A (p.Pro2067=)
c.5913C>A (p.Pro1971=)
c.3441C>A (p.Pro1147=)
gnomAD v4
19g.35733026C=CA2333794615KMT2Bn.783C=
c.6411C= (p.Pro2137=)
c.4018C= (n.4018C=)
c.1695C= (p.Pro565=)
n.1630C=
c.1698C= (p.Pro566=)
c.6019C=
c.6477C= (p.Pro2159=)
c.705-571C= (n.705-571C=)
c.3799C=
c.6201C= (p.Pro2067=)
c.5913C= (p.Pro1971=)
c.3441C= (p.Pro1147=)
19g.35733026C>GCA507309093KMT2Bn.783C>G
c.6411C>G (p.Pro2137=)
c.4018C>G (n.4018C>G)
c.1695C>G (p.Pro565=)
n.1630C>G
c.1698C>G (p.Pro566=)
c.6019C>G
c.6477C>G (p.Pro2159=)
c.705-571C>G (n.705-571C>G)
c.3799C>G
c.6201C>G (p.Pro2067=)
c.5913C>G (p.Pro1971=)
c.3441C>G (p.Pro1147=)
19g.35733026C>TCA9385696KMT2Bn.783C>T
c.6411C>T (p.Pro2137=)
c.4018C>T (n.4018C>T)
c.1695C>T (p.Pro565=)
n.1630C>T
c.1698C>T (p.Pro566=)
c.6019C>T
c.6477C>T (p.Pro2159=)
c.705-571C>T (n.705-571C>T)
c.3799C>T
c.6201C>T (p.Pro2067=)
c.5913C>T (p.Pro1971=)
c.3441C>T (p.Pro1147=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35733027A>CCA405428750KMT2Bn.784A>C
c.6412A>C (p.Thr2138Pro)
c.4019A>C (n.4019A>C)
c.1696A>C (p.Thr566Pro)
n.1631A>C
c.1699A>C (p.Thr567Pro)
c.6020A>C
c.6478A>C (p.Thr2160Pro)
c.705-570A>C (n.705-570A>C)
c.3800A>C
c.6202A>C (p.Thr2068Pro)
c.5914A>C (p.Thr1972Pro)
c.3442A>C (p.Thr1148Pro)
19g.35733027A>GCA405428753KMT2Bn.784A>G
c.6412A>G (p.Thr2138Ala)
c.4019A>G (n.4019A>G)
c.1696A>G (p.Thr566Ala)
n.1631A>G
c.1699A>G (p.Thr567Ala)
c.6020A>G
c.6478A>G (p.Thr2160Ala)
c.705-570A>G (n.705-570A>G)
c.3800A>G
c.6202A>G (p.Thr2068Ala)
c.5914A>G (p.Thr1972Ala)
c.3442A>G (p.Thr1148Ala)
19g.35733027A>TCA405428755KMT2Bn.784A>T
c.6412A>T (p.Thr2138Ser)
c.4019A>T (n.4019A>T)
c.1696A>T (p.Thr566Ser)
n.1631A>T
c.1699A>T (p.Thr567Ser)
c.6020A>T
c.6478A>T (p.Thr2160Ser)
c.705-570A>T (n.705-570A>T)
c.3800A>T
c.6202A>T (p.Thr2068Ser)
c.5914A>T (p.Thr1972Ser)
c.3442A>T (p.Thr1148Ser)
19g.35733028C>ACA405428759KMT2Bn.785C>A
c.6413C>A (p.Thr2138Asn)
c.4020C>A (n.4020C>A)
c.1697C>A (p.Thr566Asn)
n.1632C>A
c.1700C>A (p.Thr567Asn)
c.6021C>A
c.6479C>A (p.Thr2160Asn)
c.705-569C>A (n.705-569C>A)
c.3801C>A
c.6203C>A (p.Thr2068Asn)
c.5915C>A (p.Thr1972Asn)
c.3443C>A (p.Thr1148Asn)
gnomAD v4
19g.35733028C>GCA405428770KMT2Bn.785C>G
c.6413C>G (p.Thr2138Ser)
c.4020C>G (n.4020C>G)
c.1697C>G (p.Thr566Ser)
n.1632C>G
c.1700C>G (p.Thr567Ser)
c.6021C>G
c.6479C>G (p.Thr2160Ser)
c.705-569C>G (n.705-569C>G)
c.3801C>G
c.6203C>G (p.Thr2068Ser)
c.5915C>G (p.Thr1972Ser)
c.3443C>G (p.Thr1148Ser)
gnomAD v4
19g.35733028C>TCA405428767KMT2Bn.785C>T
c.6413C>T (p.Thr2138Ile)
c.4020C>T (n.4020C>T)
c.1697C>T (p.Thr566Ile)
n.1632C>T
c.1700C>T (p.Thr567Ile)
c.6021C>T
c.6479C>T (p.Thr2160Ile)
c.705-569C>T (n.705-569C>T)
c.3801C>T
c.6203C>T (p.Thr2068Ile)
c.5915C>T (p.Thr1972Ile)
c.3443C>T (p.Thr1148Ile)
gnomAD v4 COSMIC
19g.35733029C>ACA507309101KMT2Bn.786C>A
c.6414C>A (p.Thr2138=)
c.4021C>A (n.4021C>A)
c.1698C>A (p.Thr566=)
n.1633C>A
c.1701C>A (p.Thr567=)
c.6022C>A
c.6480C>A (p.Thr2160=)
c.705-568C>A (n.705-568C>A)
c.3802C>A
c.6204C>A (p.Thr2068=)
c.5916C>A (p.Thr1972=)
c.3444C>A (p.Thr1148=)
19g.35733029C>GCA507309103KMT2Bn.786C>G
c.6414C>G (p.Thr2138=)
c.4021C>G (n.4021C>G)
c.1698C>G (p.Thr566=)
n.1633C>G
c.1701C>G (p.Thr567=)
c.6022C>G
c.6480C>G (p.Thr2160=)
c.705-568C>G (n.705-568C>G)
c.3802C>G
c.6204C>G (p.Thr2068=)
c.5916C>G (p.Thr1972=)
c.3444C>G (p.Thr1148=)
19g.35733029C>TCA507309100KMT2Bn.786C>T
c.6414C>T (p.Thr2138=)
c.4021C>T (n.4021C>T)
c.1698C>T (p.Thr566=)
n.1633C>T
c.1701C>T (p.Thr567=)
c.6022C>T
c.6480C>T (p.Thr2160=)
c.705-568C>T (n.705-568C>T)
c.3802C>T
c.6204C>T (p.Thr2068=)
c.5916C>T (p.Thr1972=)
c.3444C>T (p.Thr1148=)
19g.35733030C>ACA405428773KMT2Bn.787C>A
c.6415C>A (p.Arg2139Ser)
c.4022C>A (n.4022C>A)
c.1699C>A (p.Arg567Ser)
n.1634C>A
c.1702C>A (p.Arg568Ser)
c.6023C>A
c.6481C>A (p.Arg2161Ser)
c.705-567C>A (n.705-567C>A)
c.3803C>A
c.6205C>A (p.Arg2069Ser)
c.5917C>A (p.Arg1973Ser)
c.3445C>A (p.Arg1149Ser)
gnomAD v4
19g.35733030C=CA2333794616KMT2Bn.787C=
c.6415C= (p.Arg2139=)
c.4022C= (n.4022C=)
c.1699C= (p.Arg567=)
n.1634C=
c.1702C= (p.Arg568=)
c.6023C=
c.6481C= (p.Arg2161=)
c.705-567C= (n.705-567C=)
c.3803C=
c.6205C= (p.Arg2069=)
c.5917C= (p.Arg1973=)
c.3445C= (p.Arg1149=)
19g.35733030C>GCA405428777KMT2Bn.787C>G
c.6415C>G (p.Arg2139Gly)
c.4022C>G (n.4022C>G)
c.1699C>G (p.Arg567Gly)
n.1634C>G
c.1702C>G (p.Arg568Gly)
c.6023C>G
c.6481C>G (p.Arg2161Gly)
c.705-567C>G (n.705-567C>G)
c.3803C>G
c.6205C>G (p.Arg2069Gly)
c.5917C>G (p.Arg1973Gly)
c.3445C>G (p.Arg1149Gly)
dbSNP gnomAD v4
19g.35733030C>TCA9385697KMT2Bn.787C>T
c.6415C>T (p.Arg2139Cys)
c.4022C>T (n.4022C>T)
c.1699C>T (p.Arg567Cys)
n.1634C>T
c.1702C>T (p.Arg568Cys)
c.6023C>T
c.6481C>T (p.Arg2161Cys)
c.705-567C>T (n.705-567C>T)
c.3803C>T
c.6205C>T (p.Arg2069Cys)
c.5917C>T (p.Arg1973Cys)
c.3445C>T (p.Arg1149Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733031G>ACA9385698KMT2Bn.788G>A
c.6416G>A (p.Arg2139His)
c.4023G>A (n.4023G>A)
c.1700G>A (p.Arg567His)
n.1635G>A
c.1703G>A (p.Arg568His)
c.6024G>A
c.6482G>A (p.Arg2161His)
c.705-566G>A (n.705-566G>A)
c.3804G>A
c.6206G>A (p.Arg2069His)
c.5918G>A (p.Arg1973His)
c.3446G>A (p.Arg1149His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35733031G>CCA405428783KMT2Bn.788G>C
c.6416G>C (p.Arg2139Pro)
c.4023G>C (n.4023G>C)
c.1700G>C (p.Arg567Pro)
n.1635G>C
c.1703G>C (p.Arg568Pro)
c.6024G>C
c.6482G>C (p.Arg2161Pro)
c.705-566G>C (n.705-566G>C)
c.3804G>C
c.6206G>C (p.Arg2069Pro)
c.5918G>C (p.Arg1973Pro)
c.3446G>C (p.Arg1149Pro)
dbSNP gnomAD v3 gnomAD v4
19g.35733031G=CA2333794617KMT2Bn.788G=
c.6416G= (p.Arg2139=)
c.4023G= (n.4023G=)
c.1700G= (p.Arg567=)
n.1635G=
c.1703G= (p.Arg568=)
c.6024G=
c.6482G= (p.Arg2161=)
c.705-566G= (n.705-566G=)
c.3804G=
c.6206G= (p.Arg2069=)
c.5918G= (p.Arg1973=)
c.3446G= (p.Arg1149=)
19g.35733031G>TCA405428786KMT2Bn.788G>T
c.6416G>T (p.Arg2139Leu)
c.4023G>T (n.4023G>T)
c.1700G>T (p.Arg567Leu)
n.1635G>T
c.1703G>T (p.Arg568Leu)
c.6024G>T
c.6482G>T (p.Arg2161Leu)
c.705-566G>T (n.705-566G>T)
c.3804G>T
c.6206G>T (p.Arg2069Leu)
c.5918G>T (p.Arg1973Leu)
c.3446G>T (p.Arg1149Leu)
19g.35733032C>ACA507309116KMT2Bn.789C>A
c.6417C>A (p.Arg2139=)
c.4024C>A (n.4024C>A)
c.1701C>A (p.Arg567=)
n.1636C>A
c.1704C>A (p.Arg568=)
c.6025C>A
c.6483C>A (p.Arg2161=)
c.705-565C>A (n.705-565C>A)
c.3805C>A
c.6207C>A (p.Arg2069=)
c.5919C>A (p.Arg1973=)
c.3447C>A (p.Arg1149=)
dbSNP gnomAD v3 gnomAD v4
19g.35733032C=CA2333794618KMT2Bn.789C=
c.6417C= (p.Arg2139=)
c.4024C= (n.4024C=)
c.1701C= (p.Arg567=)
n.1636C=
c.1704C= (p.Arg568=)
c.6025C=
c.6483C= (p.Arg2161=)
c.705-565C= (n.705-565C=)
c.3805C=
c.6207C= (p.Arg2069=)
c.5919C= (p.Arg1973=)
c.3447C= (p.Arg1149=)
19g.35733032C>GCA507309111KMT2Bn.789C>G
c.6417C>G (p.Arg2139=)
c.4024C>G (n.4024C>G)
c.1701C>G (p.Arg567=)
n.1636C>G
c.1704C>G (p.Arg568=)
c.6025C>G
c.6483C>G (p.Arg2161=)
c.705-565C>G (n.705-565C>G)
c.3805C>G
c.6207C>G (p.Arg2069=)
c.5919C>G (p.Arg1973=)
c.3447C>G (p.Arg1149=)
19g.35733032C>TCA507309113KMT2Bn.789C>T
c.6417C>T (p.Arg2139=)
c.4024C>T (n.4024C>T)
c.1701C>T (p.Arg567=)
n.1636C>T
c.1704C>T (p.Arg568=)
c.6025C>T
c.6483C>T (p.Arg2161=)
c.705-565C>T (n.705-565C>T)
c.3805C>T
c.6207C>T (p.Arg2069=)
c.5919C>T (p.Arg1973=)
c.3447C>T (p.Arg1149=)
dbSNP gnomAD v2 gnomAD v4
19g.35733033A>CCA405428789KMT2Bn.790A>C
c.6418A>C (p.Thr2140Pro)
c.4025A>C (n.4025A>C)
c.1702A>C (p.Thr568Pro)
n.1637A>C
c.1705A>C (p.Thr569Pro)
c.6026A>C
c.6484A>C (p.Thr2162Pro)
c.705-564A>C (n.705-564A>C)
c.3806A>C
c.6208A>C (p.Thr2070Pro)
c.5920A>C (p.Thr1974Pro)
c.3448A>C (p.Thr1150Pro)
gnomAD v4
19g.35733033A>GCA405428791KMT2Bn.790A>G
c.6418A>G (p.Thr2140Ala)
c.4025A>G (n.4025A>G)
c.1702A>G (p.Thr568Ala)
n.1637A>G
c.1705A>G (p.Thr569Ala)
c.6026A>G
c.6484A>G (p.Thr2162Ala)
c.705-564A>G (n.705-564A>G)
c.3806A>G
c.6208A>G (p.Thr2070Ala)
c.5920A>G (p.Thr1974Ala)
c.3448A>G (p.Thr1150Ala)
gnomAD v4
19g.35733033A>TCA405428795KMT2Bn.790A>T
c.6418A>T (p.Thr2140Ser)
c.4025A>T (n.4025A>T)
c.1702A>T (p.Thr568Ser)
n.1637A>T
c.1705A>T (p.Thr569Ser)
c.6026A>T
c.6484A>T (p.Thr2162Ser)
c.705-564A>T (n.705-564A>T)
c.3806A>T
c.6208A>T (p.Thr2070Ser)
c.5920A>T (p.Thr1974Ser)
c.3448A>T (p.Thr1150Ser)
19g.35733034C>ACA405428804KMT2Bn.791C>A
c.6419C>A (p.Thr2140Lys)
c.4026C>A (n.4026C>A)
c.1703C>A (p.Thr568Lys)
n.1638C>A
c.1706C>A (p.Thr569Lys)
c.6027C>A
c.6485C>A (p.Thr2162Lys)
c.705-563C>A (n.705-563C>A)
c.3807C>A
c.6209C>A (p.Thr2070Lys)
c.5921C>A (p.Thr1974Lys)
c.3449C>A (p.Thr1150Lys)
19g.35733034C=CA2333794619KMT2Bn.791C=
c.6419C= (p.Thr2140=)
c.4026C= (n.4026C=)
c.1703C= (p.Thr568=)
n.1638C=
c.1706C= (p.Thr569=)
c.6027C=
c.6485C= (p.Thr2162=)
c.705-563C= (n.705-563C=)
c.3807C=
c.6209C= (p.Thr2070=)
c.5921C= (p.Thr1974=)
c.3449C= (p.Thr1150=)
19g.35733034C>GCA405428801KMT2Bn.791C>G
c.6419C>G (p.Thr2140Arg)
c.4026C>G (n.4026C>G)
c.1703C>G (p.Thr568Arg)
n.1638C>G
c.1706C>G (p.Thr569Arg)
c.6027C>G
c.6485C>G (p.Thr2162Arg)
c.705-563C>G (n.705-563C>G)
c.3807C>G
c.6209C>G (p.Thr2070Arg)
c.5921C>G (p.Thr1974Arg)
c.3449C>G (p.Thr1150Arg)
19g.35733034C>TCA9385699KMT2Bn.791C>T
c.6419C>T (p.Thr2140Ile)
c.4026C>T (n.4026C>T)
c.1703C>T (p.Thr568Ile)
n.1638C>T
c.1706C>T (p.Thr569Ile)
c.6027C>T
c.6485C>T (p.Thr2162Ile)
c.705-563C>T (n.705-563C>T)
c.3807C>T
c.6209C>T (p.Thr2070Ile)
c.5921C>T (p.Thr1974Ile)
c.3449C>T (p.Thr1150Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733035A=CA2333794620KMT2Bn.792A=
c.6420A= (p.Thr2140=)
c.4027A= (n.4027A=)
c.1704A= (p.Thr568=)
n.1639A=
c.1707A= (p.Thr569=)
c.6028A=
c.6486A= (p.Thr2162=)
c.705-562A= (n.705-562A=)
c.3808A=
c.6210A= (p.Thr2070=)
c.5922A= (p.Thr1974=)
c.3450A= (p.Thr1150=)
19g.35733035A>CCA507309129KMT2Bn.792A>C
c.6420A>C (p.Thr2140=)
c.4027A>C (n.4027A>C)
c.1704A>C (p.Thr568=)
n.1639A>C
c.1707A>C (p.Thr569=)
c.6028A>C
c.6486A>C (p.Thr2162=)
c.705-562A>C (n.705-562A>C)
c.3808A>C
c.6210A>C (p.Thr2070=)
c.5922A>C (p.Thr1974=)
c.3450A>C (p.Thr1150=)
19g.35733035A>GCA507309134KMT2Bn.792A>G
c.6420A>G (p.Thr2140=)
c.4027A>G (n.4027A>G)
c.1704A>G (p.Thr568=)
n.1639A>G
c.1707A>G (p.Thr569=)
c.6028A>G
c.6486A>G (p.Thr2162=)
c.705-562A>G (n.705-562A>G)
c.3808A>G
c.6210A>G (p.Thr2070=)
c.5922A>G (p.Thr1974=)
c.3450A>G (p.Thr1150=)
19g.35733035A>TCA507309132KMT2Bn.792A>T
c.6420A>T (p.Thr2140=)
c.4027A>T (n.4027A>T)
c.1704A>T (p.Thr568=)
n.1639A>T
c.1707A>T (p.Thr569=)
c.6028A>T
c.6486A>T (p.Thr2162=)
c.705-562A>T (n.705-562A>T)
c.3808A>T
c.6210A>T (p.Thr2070=)
c.5922A>T (p.Thr1974=)
c.3450A>T (p.Thr1150=)
dbSNP gnomAD v2 gnomAD v4
19g.35733036T>ACA405428808KMT2Bn.793T>A
c.6421T>A (p.Phe2141Ile)
c.4028T>A (n.4028T>A)
c.1705T>A (p.Phe569Ile)
n.1640T>A
c.1708T>A (p.Phe570Ile)
c.6029T>A
c.6487T>A (p.Phe2163Ile)
c.705-561T>A (n.705-561T>A)
c.3809T>A
c.6211T>A (p.Phe2071Ile)
c.5923T>A (p.Phe1975Ile)
c.3451T>A (p.Phe1151Ile)
19g.35733036T>CCA405428811KMT2Bn.793T>C
c.6421T>C (p.Phe2141Leu)
c.4028T>C (n.4028T>C)
c.1705T>C (p.Phe569Leu)
n.1640T>C
c.1708T>C (p.Phe570Leu)
c.6029T>C
c.6487T>C (p.Phe2163Leu)
c.705-561T>C (n.705-561T>C)
c.3809T>C
c.6211T>C (p.Phe2071Leu)
c.5923T>C (p.Phe1975Leu)
c.3451T>C (p.Phe1151Leu)
19g.35733036T>GCA405428814KMT2Bn.793T>G
c.6421T>G (p.Phe2141Val)
c.4028T>G (n.4028T>G)
c.1705T>G (p.Phe569Val)
n.1640T>G
c.1708T>G (p.Phe570Val)
c.6029T>G
c.6487T>G (p.Phe2163Val)
c.705-561T>G (n.705-561T>G)
c.3809T>G
c.6211T>G (p.Phe2071Val)
c.5923T>G (p.Phe1975Val)
c.3451T>G (p.Phe1151Val)
gnomAD v4
19g.35733037T>ACA9385700KMT2Bn.794T>A
c.6422T>A (p.Phe2141Tyr)
c.4029T>A (n.4029T>A)
c.1706T>A (p.Phe569Tyr)
n.1641T>A
c.1709T>A (p.Phe570Tyr)
c.6030T>A
c.6488T>A (p.Phe2163Tyr)
c.705-560T>A (n.705-560T>A)
c.3810T>A
c.6212T>A (p.Phe2071Tyr)
c.5924T>A (p.Phe1975Tyr)
c.3452T>A (p.Phe1151Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733037T>CCA405428818KMT2Bn.794T>C
c.6422T>C (p.Phe2141Ser)
c.4029T>C (n.4029T>C)
c.1706T>C (p.Phe569Ser)
n.1641T>C
c.1709T>C (p.Phe570Ser)
c.6030T>C
c.6488T>C (p.Phe2163Ser)
c.705-560T>C (n.705-560T>C)
c.3810T>C
c.6212T>C (p.Phe2071Ser)
c.5924T>C (p.Phe1975Ser)
c.3452T>C (p.Phe1151Ser)
19g.35733037T>GCA405428821KMT2Bn.794T>G
c.6422T>G (p.Phe2141Cys)
c.4029T>G (n.4029T>G)
c.1706T>G (p.Phe569Cys)
n.1641T>G
c.1709T>G (p.Phe570Cys)
c.6030T>G
c.6488T>G (p.Phe2163Cys)
c.705-560T>G (n.705-560T>G)
c.3810T>G
c.6212T>G (p.Phe2071Cys)
c.5924T>G (p.Phe1975Cys)
c.3452T>G (p.Phe1151Cys)
gnomAD v4
19g.35733037T=CA2333794621KMT2Bn.794T=
c.6422T= (p.Phe2141=)
c.4029T= (n.4029T=)
c.1706T= (p.Phe569=)
n.1641T=
c.1709T= (p.Phe570=)
c.6030T=
c.6488T= (p.Phe2163=)
c.705-560T= (n.705-560T=)
c.3810T=
c.6212T= (p.Phe2071=)
c.5924T= (p.Phe1975=)
c.3452T= (p.Phe1151=)
19g.35733038T>ACA405428825KMT2Bn.795T>A
c.6423T>A (p.Phe2141Leu)
c.4030T>A (n.4030T>A)
c.1707T>A (p.Phe569Leu)
n.1642T>A
c.1710T>A (p.Phe570Leu)
c.6031T>A
c.6489T>A (p.Phe2163Leu)
c.705-559T>A (n.705-559T>A)
c.3811T>A
c.6213T>A (p.Phe2071Leu)
c.5925T>A (p.Phe1975Leu)
c.3453T>A (p.Phe1151Leu)
19g.35733038T>CCA507309140KMT2Bn.795T>C
c.6423T>C (p.Phe2141=)
c.4030T>C (n.4030T>C)
c.1707T>C (p.Phe569=)
n.1642T>C
c.1710T>C (p.Phe570=)
c.6031T>C
c.6489T>C (p.Phe2163=)
c.705-559T>C (n.705-559T>C)
c.3811T>C
c.6213T>C (p.Phe2071=)
c.5925T>C (p.Phe1975=)
c.3453T>C (p.Phe1151=)
19g.35733038T>GCA405428827KMT2Bn.795T>G
c.6423T>G (p.Phe2141Leu)
c.4030T>G (n.4030T>G)
c.1707T>G (p.Phe569Leu)
n.1642T>G
c.1710T>G (p.Phe570Leu)
c.6031T>G
c.6489T>G (p.Phe2163Leu)
c.705-559T>G (n.705-559T>G)
c.3811T>G
c.6213T>G (p.Phe2071Leu)
c.5925T>G (p.Phe1975Leu)
c.3453T>G (p.Phe1151Leu)
19g.35733039G>ACA9385701KMT2Bn.796G>A
c.6424G>A (p.Ala2142Thr)
c.4031G>A (n.4031G>A)
c.1708G>A (p.Ala570Thr)
n.1643G>A
c.1711G>A (p.Ala571Thr)
c.6032G>A
c.6490G>A (p.Ala2164Thr)
c.705-558G>A (n.705-558G>A)
c.3812G>A
c.6214G>A (p.Ala2072Thr)
c.5926G>A (p.Ala1976Thr)
c.3454G>A (p.Ala1152Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35733039G>CCA405428833KMT2Bn.796G>C
c.6424G>C (p.Ala2142Pro)
c.4031G>C (n.4031G>C)
c.1708G>C (p.Ala570Pro)
n.1643G>C
c.1711G>C (p.Ala571Pro)
c.6032G>C
c.6490G>C (p.Ala2164Pro)
c.705-558G>C (n.705-558G>C)
c.3812G>C
c.6214G>C (p.Ala2072Pro)
c.5926G>C (p.Ala1976Pro)
c.3454G>C (p.Ala1152Pro)
19g.35733039G=CA2333794622KMT2Bn.796G=
c.6424G= (p.Ala2142=)
c.4031G= (n.4031G=)
c.1708G= (p.Ala570=)
n.1643G=
c.1711G= (p.Ala571=)
c.6032G=
c.6490G= (p.Ala2164=)
c.705-558G= (n.705-558G=)
c.3812G=
c.6214G= (p.Ala2072=)
c.5926G= (p.Ala1976=)
c.3454G= (p.Ala1152=)
19g.35733039G>TCA405428836KMT2Bn.796G>T
c.6424G>T (p.Ala2142Ser)
c.4031G>T (n.4031G>T)
c.1708G>T (p.Ala570Ser)
n.1643G>T
c.1711G>T (p.Ala571Ser)
c.6032G>T
c.6490G>T (p.Ala2164Ser)
c.705-558G>T (n.705-558G>T)
c.3812G>T
c.6214G>T (p.Ala2072Ser)
c.5926G>T (p.Ala1976Ser)
c.3454G>T (p.Ala1152Ser)
gnomAD v4
19g.35733040C>ACA405428845KMT2Bn.797C>A
c.6425C>A (p.Ala2142Asp)
c.4032C>A (n.4032C>A)
c.1709C>A (p.Ala570Asp)
n.1644C>A
c.1712C>A (p.Ala571Asp)
c.6033C>A
c.6491C>A (p.Ala2164Asp)
c.705-557C>A (n.705-557C>A)
c.3813C>A
c.6215C>A (p.Ala2072Asp)
c.5927C>A (p.Ala1976Asp)
c.3455C>A (p.Ala1152Asp)
19g.35733040C>GCA405428843KMT2Bn.797C>G
c.6425C>G (p.Ala2142Gly)
c.4032C>G (n.4032C>G)
c.1709C>G (p.Ala570Gly)
n.1644C>G
c.1712C>G (p.Ala571Gly)
c.6033C>G
c.6491C>G (p.Ala2164Gly)
c.705-557C>G (n.705-557C>G)
c.3813C>G
c.6215C>G (p.Ala2072Gly)
c.5927C>G (p.Ala1976Gly)
c.3455C>G (p.Ala1152Gly)
19g.35733040C>TCA405428840KMT2Bn.797C>T
c.6425C>T (p.Ala2142Val)
c.4032C>T (n.4032C>T)
c.1709C>T (p.Ala570Val)
n.1644C>T
c.1712C>T (p.Ala571Val)
c.6033C>T
c.6491C>T (p.Ala2164Val)
c.705-557C>T (n.705-557C>T)
c.3813C>T
c.6215C>T (p.Ala2072Val)
c.5927C>T (p.Ala1976Val)
c.3455C>T (p.Ala1152Val)
gnomAD v4
19g.35733041C>ACA507308290KMT2Bn.798C>A
c.6426C>A (p.Ala2142=)
c.4033C>A (n.4033C>A)
c.1710C>A (p.Ala570=)
n.1645C>A
c.1713C>A (p.Ala571=)
c.6034C>A
c.6492C>A (p.Ala2164=)
c.705-556C>A (n.705-556C>A)
c.3814C>A
c.6216C>A (p.Ala2072=)
c.5928C>A (p.Ala1976=)
c.3456C>A (p.Ala1152=)
gnomAD v4
19g.35733041C=CA2333794623KMT2Bn.798C=
c.6426C= (p.Ala2142=)
c.4033C= (n.4033C=)
c.1710C= (p.Ala570=)
n.1645C=
c.1713C= (p.Ala571=)
c.6034C=
c.6492C= (p.Ala2164=)
c.705-556C= (n.705-556C=)
c.3814C=
c.6216C= (p.Ala2072=)
c.5928C= (p.Ala1976=)
c.3456C= (p.Ala1152=)
19g.35733041C>GCA507308292KMT2Bn.798C>G
c.6426C>G (p.Ala2142=)
c.4033C>G (n.4033C>G)
c.1710C>G (p.Ala570=)
n.1645C>G
c.1713C>G (p.Ala571=)
c.6034C>G
c.6492C>G (p.Ala2164=)
c.705-556C>G (n.705-556C>G)
c.3814C>G
c.6216C>G (p.Ala2072=)
c.5928C>G (p.Ala1976=)
c.3456C>G (p.Ala1152=)
gnomAD v4
19g.35733041C>TCA9385702KMT2Bn.798C>T
c.6426C>T (p.Ala2142=)
c.4033C>T (n.4033C>T)
c.1710C>T (p.Ala570=)
n.1645C>T
c.1713C>T (p.Ala571=)
c.6034C>T
c.6492C>T (p.Ala2164=)
c.705-556C>T (n.705-556C>T)
c.3814C>T
c.6216C>T (p.Ala2072=)
c.5928C>T (p.Ala1976=)
c.3456C>T (p.Ala1152=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733042T>ACA405428850KMT2Bn.799T>A
c.6427T>A (p.Trp2143Arg)
c.4034T>A (n.4034T>A)
c.1711T>A (p.Trp571Arg)
n.1646T>A
c.1714T>A (p.Trp572Arg)
c.6035T>A
c.6493T>A (p.Trp2165Arg)
c.705-555T>A (n.705-555T>A)
c.3815T>A
c.6217T>A (p.Trp2073Arg)
c.5929T>A (p.Trp1977Arg)
c.3457T>A (p.Trp1153Arg)
19g.35733042T>CCA405428853KMT2Bn.799T>C
c.6427T>C (p.Trp2143Arg)
c.4034T>C (n.4034T>C)
c.1711T>C (p.Trp571Arg)
n.1646T>C
c.1714T>C (p.Trp572Arg)
c.6035T>C
c.6493T>C (p.Trp2165Arg)
c.705-555T>C (n.705-555T>C)
c.3815T>C
c.6217T>C (p.Trp2073Arg)
c.5929T>C (p.Trp1977Arg)
c.3457T>C (p.Trp1153Arg)
19g.35733042T>GCA405428856KMT2Bn.799T>G
c.6427T>G (p.Trp2143Gly)
c.4034T>G (n.4034T>G)
c.1711T>G (p.Trp571Gly)
n.1646T>G
c.1714T>G (p.Trp572Gly)
c.6035T>G
c.6493T>G (p.Trp2165Gly)
c.705-555T>G (n.705-555T>G)
c.3815T>G
c.6217T>G (p.Trp2073Gly)
c.5929T>G (p.Trp1977Gly)
c.3457T>G (p.Trp1153Gly)
19g.35733043G>ACA405428860KMT2Bn.800G>A
c.6428G>A (p.Trp2143Ter)
c.4035G>A (n.4035G>A)
c.1712G>A (p.Trp571Ter)
n.1647G>A
c.1715G>A (p.Trp572Ter)
c.6036G>A
c.6494G>A (p.Trp2165Ter)
c.705-554G>A (n.705-554G>A)
c.3816G>A
c.6218G>A (p.Trp2073Ter)
c.5930G>A (p.Trp1977Ter)
c.3458G>A (p.Trp1153Ter)
19g.35733043G>CCA405428862KMT2Bn.800G>C
c.6428G>C (p.Trp2143Ser)
c.4035G>C (n.4035G>C)
c.1712G>C (p.Trp571Ser)
n.1647G>C
c.1715G>C (p.Trp572Ser)
c.6036G>C
c.6494G>C (p.Trp2165Ser)
c.705-554G>C (n.705-554G>C)
c.3816G>C
c.6218G>C (p.Trp2073Ser)
c.5930G>C (p.Trp1977Ser)
c.3458G>C (p.Trp1153Ser)
19g.35733043G>TCA405428865KMT2Bn.800G>T
c.6428G>T (p.Trp2143Leu)
c.4035G>T (n.4035G>T)
c.1712G>T (p.Trp571Leu)
n.1647G>T
c.1715G>T (p.Trp572Leu)
c.6036G>T
c.6494G>T (p.Trp2165Leu)
c.705-554G>T (n.705-554G>T)
c.3816G>T
c.6218G>T (p.Trp2073Leu)
c.5930G>T (p.Trp1977Leu)
c.3458G>T (p.Trp1153Leu)
19g.35733044G>ACA405428870KMT2Bn.801G>A
c.6429G>A (p.Trp2143Ter)
c.4036G>A (n.4036G>A)
c.1713G>A (p.Trp571Ter)
n.1648G>A
c.1716G>A (p.Trp572Ter)
c.6037G>A
c.6495G>A (p.Trp2165Ter)
c.705-553G>A (n.705-553G>A)
c.3817G>A
c.6219G>A (p.Trp2073Ter)
c.5931G>A (p.Trp1977Ter)
c.3459G>A (p.Trp1153Ter)
gnomAD v4
19g.35733044G>CCA405428873KMT2Bn.801G>C
c.6429G>C (p.Trp2143Cys)
c.4036G>C (n.4036G>C)
c.1713G>C (p.Trp571Cys)
n.1648G>C
c.1716G>C (p.Trp572Cys)
c.6037G>C
c.6495G>C (p.Trp2165Cys)
c.705-553G>C (n.705-553G>C)
c.3817G>C
c.6219G>C (p.Trp2073Cys)
c.5931G>C (p.Trp1977Cys)
c.3459G>C (p.Trp1153Cys)
19g.35733044G>TCA405428875KMT2Bn.801G>T
c.6429G>T (p.Trp2143Cys)
c.4036G>T (n.4036G>T)
c.1713G>T (p.Trp571Cys)
n.1648G>T
c.1716G>T (p.Trp572Cys)
c.6037G>T
c.6495G>T (p.Trp2165Cys)
c.705-553G>T (n.705-553G>T)
c.3817G>T
c.6219G>T (p.Trp2073Cys)
c.5931G>T (p.Trp1977Cys)
c.3459G>T (p.Trp1153Cys)
19g.35733045C>ACA405428879KMT2Bn.802C>A
c.6430C>A (p.Leu2144Ile)
c.4037C>A (n.4037C>A)
c.1714C>A (p.Leu572Ile)
n.1649C>A
c.1717C>A (p.Leu573Ile)
c.6038C>A
c.6496C>A (p.Leu2166Ile)
c.705-552C>A (n.705-552C>A)
c.3818C>A
c.6220C>A (p.Leu2074Ile)
c.5932C>A (p.Leu1978Ile)
c.3460C>A (p.Leu1154Ile)
gnomAD v4
19g.35733045C>GCA405428881KMT2Bn.802C>G
c.6430C>G (p.Leu2144Val)
c.4037C>G (n.4037C>G)
c.1714C>G (p.Leu572Val)
n.1649C>G
c.1717C>G (p.Leu573Val)
c.6038C>G
c.6496C>G (p.Leu2166Val)
c.705-552C>G (n.705-552C>G)
c.3818C>G
c.6220C>G (p.Leu2074Val)
c.5932C>G (p.Leu1978Val)
c.3460C>G (p.Leu1154Val)
gnomAD v4
19g.35733045C>TCA405428884KMT2Bn.802C>T
c.6430C>T (p.Leu2144Phe)
c.4037C>T (n.4037C>T)
c.1714C>T (p.Leu572Phe)
n.1649C>T
c.1717C>T (p.Leu573Phe)
c.6038C>T
c.6496C>T (p.Leu2166Phe)
c.705-552C>T (n.705-552C>T)
c.3818C>T
c.6220C>T (p.Leu2074Phe)
c.5932C>T (p.Leu1978Phe)
c.3460C>T (p.Leu1154Phe)
ClinVar
19g.35733046T>ACA405428891KMT2Bn.803T>A
c.6431T>A (p.Leu2144His)
c.4038T>A (n.4038T>A)
c.1715T>A (p.Leu572His)
n.1650T>A
c.1718T>A (p.Leu573His)
c.6039T>A
c.6497T>A (p.Leu2166His)
c.705-551T>A (n.705-551T>A)
c.3819T>A
c.6221T>A (p.Leu2074His)
c.5933T>A (p.Leu1978His)
c.3461T>A (p.Leu1154His)
19g.35733046T>CCA405428894KMT2Bn.803T>C
c.6431T>C (p.Leu2144Pro)
c.4038T>C (n.4038T>C)
c.1715T>C (p.Leu572Pro)
n.1650T>C
c.1718T>C (p.Leu573Pro)
c.6039T>C
c.6497T>C (p.Leu2166Pro)
c.705-551T>C (n.705-551T>C)
c.3819T>C
c.6221T>C (p.Leu2074Pro)
c.5933T>C (p.Leu1978Pro)
c.3461T>C (p.Leu1154Pro)
19g.35733046T>GCA405428888KMT2Bn.803T>G
c.6431T>G (p.Leu2144Arg)
c.4038T>G (n.4038T>G)
c.1715T>G (p.Leu572Arg)
n.1650T>G
c.1718T>G (p.Leu573Arg)
c.6039T>G
c.6497T>G (p.Leu2166Arg)
c.705-551T>G (n.705-551T>G)
c.3819T>G
c.6221T>G (p.Leu2074Arg)
c.5933T>G (p.Leu1978Arg)
c.3461T>G (p.Leu1154Arg)
19g.35733046_35733055delinsTCCCAGGGGCCA2333794624KMT2Bn.803_812delinsTCCCAGGGGC
c.6431_6440delinsTCCCAGGGGC (p.Leu2144=)
c.4038_4047delinsTCCCAGGGGC (n.4038_4047delinsTCCCAGGGGC)
c.1715_1724delinsTCCCAGGGGC (p.Leu572=)
n.1650_1659delinsTCCCAGGGGC
c.1718_1727delinsTCCCAGGGGC (p.Leu573=)
c.6039_6048delinsTCCCAGGGGC
c.6497_6506delinsTCCCAGGGGC (p.Leu2166=)
c.705-551_705-542delinsTCCCAGGGGC (n.705-551_705-542delinsTCCCAGGGGC)
c.3819_3828delinsTCCCAGGGGC
c.6221_6230delinsTCCCAGGGGC (p.Leu2074=)
c.5933_5942delinsTCCCAGGGGC (p.Leu1978=)
c.3461_3470delinsTCCCAGGGGC (p.Leu1154=)
19g.35733047C>ACA507308308KMT2Bn.804C>A
c.6432C>A (p.Leu2144=)
c.4039C>A (n.4039C>A)
c.1716C>A (p.Leu572=)
n.1651C>A
c.1719C>A (p.Leu573=)
c.6040C>A
c.6498C>A (p.Leu2166=)
c.705-550C>A (n.705-550C>A)
c.3820C>A
c.6222C>A (p.Leu2074=)
c.5934C>A (p.Leu1978=)
c.3462C>A (p.Leu1154=)
gnomAD v4
19g.35733047C=CA2333794625KMT2Bn.804C=
c.6432C= (p.Leu2144=)
c.4039C= (n.4039C=)
c.1716C= (p.Leu572=)
n.1651C=
c.1719C= (p.Leu573=)
c.6040C=
c.6498C= (p.Leu2166=)
c.705-550C= (n.705-550C=)
c.3820C=
c.6222C= (p.Leu2074=)
c.5934C= (p.Leu1978=)
c.3462C= (p.Leu1154=)
19g.35733047C>GCA507308310KMT2Bn.804C>G
c.6432C>G (p.Leu2144=)
c.4039C>G (n.4039C>G)
c.1716C>G (p.Leu572=)
n.1651C>G
c.1719C>G (p.Leu573=)
c.6040C>G
c.6498C>G (p.Leu2166=)
c.705-550C>G (n.705-550C>G)
c.3820C>G
c.6222C>G (p.Leu2074=)
c.5934C>G (p.Leu1978=)
c.3462C>G (p.Leu1154=)
dbSNP gnomAD v3 gnomAD v4
19g.35733047C>TCA507308311KMT2Bn.804C>T
c.6432C>T (p.Leu2144=)
c.4039C>T (n.4039C>T)
c.1716C>T (p.Leu572=)
n.1651C>T
c.1719C>T (p.Leu573=)
c.6040C>T
c.6498C>T (p.Leu2166=)
c.705-550C>T (n.705-550C>T)
c.3820C>T
c.6222C>T (p.Leu2074=)
c.5934C>T (p.Leu1978=)
c.3462C>T (p.Leu1154=)
gnomAD v4
19g.35733055_35733063delCA9385703KMT2Bn.812_820del
c.6440_6448del (p.Ala2147_Gly2149del)
c.4047_4055del (n.4047_4055del)
c.1724_1732del (p.Ala575_Gly577del)
n.1659_1667del
c.1727_1735del (p.Ala576_Gly578del)
c.6048_6056del
c.6506_6514del (p.Ala2169_Gly2171del)
c.705-542_705-534del (n.705-542_705-534del)
c.3828_3836del
c.6230_6238del (p.Ala2077_Gly2079del)
c.5942_5950del (p.Ala1981_Gly1983del)
c.3470_3478del (p.Ala1157_Gly1159del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733048C>ACA405428900KMT2Bn.805C>A
c.6433C>A (p.Pro2145Thr)
c.4040C>A (n.4040C>A)
c.1717C>A (p.Pro573Thr)
n.1652C>A
c.1720C>A (p.Pro574Thr)
c.6041C>A
c.6499C>A (p.Pro2167Thr)
c.705-549C>A (n.705-549C>A)
c.3821C>A
c.6223C>A (p.Pro2075Thr)
c.5935C>A (p.Pro1979Thr)
c.3463C>A (p.Pro1155Thr)
gnomAD v4
19g.35733048C=CA2333794626KMT2Bn.805C=
c.6433C= (p.Pro2145=)
c.4040C= (n.4040C=)
c.1717C= (p.Pro573=)
n.1652C=
c.1720C= (p.Pro574=)
c.6041C=
c.6499C= (p.Pro2167=)
c.705-549C= (n.705-549C=)
c.3821C=
c.6223C= (p.Pro2075=)
c.5935C= (p.Pro1979=)
c.3463C= (p.Pro1155=)
19g.35733048C>GCA405428901KMT2Bn.805C>G
c.6433C>G (p.Pro2145Ala)
c.4040C>G (n.4040C>G)
c.1717C>G (p.Pro573Ala)
n.1652C>G
c.1720C>G (p.Pro574Ala)
c.6041C>G
c.6499C>G (p.Pro2167Ala)
c.705-549C>G (n.705-549C>G)
c.3821C>G
c.6223C>G (p.Pro2075Ala)
c.5935C>G (p.Pro1979Ala)
c.3463C>G (p.Pro1155Ala)
19g.35733048C>TCA405428903KMT2Bn.805C>T
c.6433C>T (p.Pro2145Ser)
c.4040C>T (n.4040C>T)
c.1717C>T (p.Pro573Ser)
n.1652C>T
c.1720C>T (p.Pro574Ser)
c.6041C>T
c.6499C>T (p.Pro2167Ser)
c.705-549C>T (n.705-549C>T)
c.3821C>T
c.6223C>T (p.Pro2075Ser)
c.5935C>T (p.Pro1979Ser)
c.3463C>T (p.Pro1155Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35733049C>ACA405428906KMT2Bn.806C>A
c.6434C>A (p.Pro2145Gln)
c.4041C>A (n.4041C>A)
c.1718C>A (p.Pro573Gln)
n.1653C>A
c.1721C>A (p.Pro574Gln)
c.6042C>A
c.6500C>A (p.Pro2167Gln)
c.705-548C>A (n.705-548C>A)
c.3822C>A
c.6224C>A (p.Pro2075Gln)
c.5936C>A (p.Pro1979Gln)
c.3464C>A (p.Pro1155Gln)
19g.35733049C>GCA405428908KMT2Bn.806C>G
c.6434C>G (p.Pro2145Arg)
c.4041C>G (n.4041C>G)
c.1718C>G (p.Pro573Arg)
n.1653C>G
c.1721C>G (p.Pro574Arg)
c.6042C>G
c.6500C>G (p.Pro2167Arg)
c.705-548C>G (n.705-548C>G)
c.3822C>G
c.6224C>G (p.Pro2075Arg)
c.5936C>G (p.Pro1979Arg)
c.3464C>G (p.Pro1155Arg)
gnomAD v3 gnomAD v4
19g.35733049C>TCA405428911KMT2Bn.806C>T
c.6434C>T (p.Pro2145Leu)
c.4041C>T (n.4041C>T)
c.1718C>T (p.Pro573Leu)
n.1653C>T
c.1721C>T (p.Pro574Leu)
c.6042C>T
c.6500C>T (p.Pro2167Leu)
c.705-548C>T (n.705-548C>T)
c.3822C>T
c.6224C>T (p.Pro2075Leu)
c.5936C>T (p.Pro1979Leu)
c.3464C>T (p.Pro1155Leu)
19g.35733050A=CA2333794627KMT2Bn.807A=
c.6435A= (p.Pro2145=)
c.4042A= (n.4042A=)
c.1719A= (p.Pro573=)
n.1654A=
c.1722A= (p.Pro574=)
c.6043A=
c.6501A= (p.Pro2167=)
c.705-547A= (n.705-547A=)
c.3823A=
c.6225A= (p.Pro2075=)
c.5937A= (p.Pro1979=)
c.3465A= (p.Pro1155=)
19g.35733050A>CCA307796883KMT2Bn.807A>C
c.6435A>C (p.Pro2145=)
c.4042A>C (n.4042A>C)
c.1719A>C (p.Pro573=)
n.1654A>C
c.1722A>C (p.Pro574=)
c.6043A>C
c.6501A>C (p.Pro2167=)
c.705-547A>C (n.705-547A>C)
c.3823A>C
c.6225A>C (p.Pro2075=)
c.5937A>C (p.Pro1979=)
c.3465A>C (p.Pro1155=)
dbSNP gnomAD v3 gnomAD v4
19g.35733050A>GCA507308326KMT2Bn.807A>G
c.6435A>G (p.Pro2145=)
c.4042A>G (n.4042A>G)
c.1719A>G (p.Pro573=)
n.1654A>G
c.1722A>G (p.Pro574=)
c.6043A>G
c.6501A>G (p.Pro2167=)
c.705-547A>G (n.705-547A>G)
c.3823A>G
c.6225A>G (p.Pro2075=)
c.5937A>G (p.Pro1979=)
c.3465A>G (p.Pro1155=)
gnomAD v4
19g.35733050A>TCA507308323KMT2Bn.807A>T
c.6435A>T (p.Pro2145=)
c.4042A>T (n.4042A>T)
c.1719A>T (p.Pro573=)
n.1654A>T
c.1722A>T (p.Pro574=)
c.6043A>T
c.6501A>T (p.Pro2167=)
c.705-547A>T (n.705-547A>T)
c.3823A>T
c.6225A>T (p.Pro2075=)
c.5937A>T (p.Pro1979=)
c.3465A>T (p.Pro1155=)
19g.35733051G>ACA405428915KMT2Bn.808G>A
c.6436G>A (p.Gly2146Arg)
c.4043G>A (n.4043G>A)
c.1720G>A (p.Gly574Arg)
n.1655G>A
c.1723G>A (p.Gly575Arg)
c.6044G>A
c.6502G>A (p.Gly2168Arg)
c.705-546G>A (n.705-546G>A)
c.3824G>A
c.6226G>A (p.Gly2076Arg)
c.5938G>A (p.Gly1980Arg)
c.3466G>A (p.Gly1156Arg)
gnomAD v4
19g.35733051G>CCA405428918KMT2Bn.808G>C
c.6436G>C (p.Gly2146Arg)
c.4043G>C (n.4043G>C)
c.1720G>C (p.Gly574Arg)
n.1655G>C
c.1723G>C (p.Gly575Arg)
c.6044G>C
c.6502G>C (p.Gly2168Arg)
c.705-546G>C (n.705-546G>C)
c.3824G>C
c.6226G>C (p.Gly2076Arg)
c.5938G>C (p.Gly1980Arg)
c.3466G>C (p.Gly1156Arg)
dbSNP gnomAD v4
19g.35733051G=CA2333794628KMT2Bn.808G=
c.6436G= (p.Gly2146=)
c.4043G= (n.4043G=)
c.1720G= (p.Gly574=)
n.1655G=
c.1723G= (p.Gly575=)
c.6044G=
c.6502G= (p.Gly2168=)
c.705-546G= (n.705-546G=)
c.3824G=
c.6226G= (p.Gly2076=)
c.5938G= (p.Gly1980=)
c.3466G= (p.Gly1156=)
19g.35733051G>TCA405428920KMT2Bn.808G>T
c.6436G>T (p.Gly2146Trp)
c.4043G>T (n.4043G>T)
c.1720G>T (p.Gly574Trp)
n.1655G>T
c.1723G>T (p.Gly575Trp)
c.6044G>T
c.6502G>T (p.Gly2168Trp)
c.705-546G>T (n.705-546G>T)
c.3824G>T
c.6226G>T (p.Gly2076Trp)
c.5938G>T (p.Gly1980Trp)
c.3466G>T (p.Gly1156Trp)
19g.35733052G>ACA405428924KMT2Bn.809G>A
c.6437G>A (p.Gly2146Glu)
c.4044G>A (n.4044G>A)
c.1721G>A (p.Gly574Glu)
n.1656G>A
c.1724G>A (p.Gly575Glu)
c.6045G>A
c.6503G>A (p.Gly2168Glu)
c.705-545G>A (n.705-545G>A)
c.3825G>A
c.6227G>A (p.Gly2076Glu)
c.5939G>A (p.Gly1980Glu)
c.3467G>A (p.Gly1156Glu)
dbSNP gnomAD v2
19g.35733052G>CCA405428926KMT2Bn.809G>C
c.6437G>C (p.Gly2146Ala)
c.4044G>C (n.4044G>C)
c.1721G>C (p.Gly574Ala)
n.1656G>C
c.1724G>C (p.Gly575Ala)
c.6045G>C
c.6503G>C (p.Gly2168Ala)
c.705-545G>C (n.705-545G>C)
c.3825G>C
c.6227G>C (p.Gly2076Ala)
c.5939G>C (p.Gly1980Ala)
c.3467G>C (p.Gly1156Ala)
19g.35733052G=CA2333794629KMT2Bn.809G=
c.6437G= (p.Gly2146=)
c.4044G= (n.4044G=)
c.1721G= (p.Gly574=)
n.1656G=
c.1724G= (p.Gly575=)
c.6045G=
c.6503G= (p.Gly2168=)
c.705-545G= (n.705-545G=)
c.3825G=
c.6227G= (p.Gly2076=)
c.5939G= (p.Gly1980=)
c.3467G= (p.Gly1156=)
19g.35733052G>TCA405428930KMT2Bn.809G>T
c.6437G>T (p.Gly2146Val)
c.4044G>T (n.4044G>T)
c.1721G>T (p.Gly574Val)
n.1656G>T
c.1724G>T (p.Gly575Val)
c.6045G>T
c.6503G>T (p.Gly2168Val)
c.705-545G>T (n.705-545G>T)
c.3825G>T
c.6227G>T (p.Gly2076Val)
c.5939G>T (p.Gly1980Val)
c.3467G>T (p.Gly1156Val)
19g.35733053G>ACA507308332KMT2Bn.810G>A
c.6438G>A (p.Gly2146=)
c.4045G>A (n.4045G>A)
c.1722G>A (p.Gly574=)
n.1657G>A
c.1725G>A (p.Gly575=)
c.6046G>A
c.6504G>A (p.Gly2168=)
c.705-544G>A (n.705-544G>A)
c.3826G>A
c.6228G>A (p.Gly2076=)
c.5940G>A (p.Gly1980=)
c.3468G>A (p.Gly1156=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35733053G>CCA507308335KMT2Bn.810G>C
c.6438G>C (p.Gly2146=)
c.4045G>C (n.4045G>C)
c.1722G>C (p.Gly574=)
n.1657G>C
c.1725G>C (p.Gly575=)
c.6046G>C
c.6504G>C (p.Gly2168=)
c.705-544G>C (n.705-544G>C)
c.3826G>C
c.6228G>C (p.Gly2076=)
c.5940G>C (p.Gly1980=)
c.3468G>C (p.Gly1156=)
19g.35733053G=CA2333794630KMT2Bn.810G=
c.6438G= (p.Gly2146=)
c.4045G= (n.4045G=)
c.1722G= (p.Gly574=)
n.1657G=
c.1725G= (p.Gly575=)
c.6046G=
c.6504G= (p.Gly2168=)
c.705-544G= (n.705-544G=)
c.3826G=
c.6228G= (p.Gly2076=)
c.5940G= (p.Gly1980=)
c.3468G= (p.Gly1156=)
19g.35733053G>TCA507308333KMT2Bn.810G>T
c.6438G>T (p.Gly2146=)
c.4045G>T (n.4045G>T)
c.1722G>T (p.Gly574=)
n.1657G>T
c.1725G>T (p.Gly575=)
c.6046G>T
c.6504G>T (p.Gly2168=)
c.705-544G>T (n.705-544G>T)
c.3826G>T
c.6228G>T (p.Gly2076=)
c.5940G>T (p.Gly1980=)
c.3468G>T (p.Gly1156=)
gnomAD v4
19g.35733054G>ACA405428936KMT2Bn.811G>A
c.6439G>A (p.Ala2147Thr)
c.4046G>A (n.4046G>A)
c.1723G>A (p.Ala575Thr)
n.1658G>A
c.1726G>A (p.Ala576Thr)
c.6047G>A
c.6505G>A (p.Ala2169Thr)
c.705-543G>A (n.705-543G>A)
c.3827G>A
c.6229G>A (p.Ala2077Thr)
c.5941G>A (p.Ala1981Thr)
c.3469G>A (p.Ala1157Thr)
gnomAD v4
19g.35733054G>CCA405428938KMT2Bn.811G>C
c.6439G>C (p.Ala2147Pro)
c.4046G>C (n.4046G>C)
c.1723G>C (p.Ala575Pro)
n.1658G>C
c.1726G>C (p.Ala576Pro)
c.6047G>C
c.6505G>C (p.Ala2169Pro)
c.705-543G>C (n.705-543G>C)
c.3827G>C
c.6229G>C (p.Ala2077Pro)
c.5941G>C (p.Ala1981Pro)
c.3469G>C (p.Ala1157Pro)
19g.35733054G>TCA405428934KMT2Bn.811G>T
c.6439G>T (p.Ala2147Ser)
c.4046G>T (n.4046G>T)
c.1723G>T (p.Ala575Ser)
n.1658G>T
c.1726G>T (p.Ala576Ser)
c.6047G>T
c.6505G>T (p.Ala2169Ser)
c.705-543G>T (n.705-543G>T)
c.3827G>T
c.6229G>T (p.Ala2077Ser)
c.5941G>T (p.Ala1981Ser)
c.3469G>T (p.Ala1157Ser)
gnomAD v4
19g.35733055C>ACA405428942KMT2Bn.812C>A
c.6440C>A (p.Ala2147Asp)
c.4047C>A (n.4047C>A)
c.1724C>A (p.Ala575Asp)
n.1659C>A
c.1727C>A (p.Ala576Asp)
c.6048C>A
c.6506C>A (p.Ala2169Asp)
c.705-542C>A (n.705-542C>A)
c.3828C>A
c.6230C>A (p.Ala2077Asp)
c.5942C>A (p.Ala1981Asp)
c.3470C>A (p.Ala1157Asp)
gnomAD v4
19g.35733055C>GCA405428944KMT2Bn.812C>G
c.6440C>G (p.Ala2147Gly)
c.4047C>G (n.4047C>G)
c.1724C>G (p.Ala575Gly)
n.1659C>G
c.1727C>G (p.Ala576Gly)
c.6048C>G
c.6506C>G (p.Ala2169Gly)
c.705-542C>G (n.705-542C>G)
c.3828C>G
c.6230C>G (p.Ala2077Gly)
c.5942C>G (p.Ala1981Gly)
c.3470C>G (p.Ala1157Gly)
19g.35733055C>TCA405428946KMT2Bn.812C>T
c.6440C>T (p.Ala2147Val)
c.4047C>T (n.4047C>T)
c.1724C>T (p.Ala575Val)
n.1659C>T
c.1727C>T (p.Ala576Val)
c.6048C>T
c.6506C>T (p.Ala2169Val)
c.705-542C>T (n.705-542C>T)
c.3828C>T
c.6230C>T (p.Ala2077Val)
c.5942C>T (p.Ala1981Val)
c.3470C>T (p.Ala1157Val)
19g.35733056C>ACA507308346KMT2Bn.813C>A
c.6441C>A (p.Ala2147=)
c.4048C>A (n.4048C>A)
c.1725C>A (p.Ala575=)
n.1660C>A
c.1728C>A (p.Ala576=)
c.6049C>A
c.6507C>A (p.Ala2169=)
c.705-541C>A (n.705-541C>A)
c.3829C>A
c.6231C>A (p.Ala2077=)
c.5943C>A (p.Ala1981=)
c.3471C>A (p.Ala1157=)
gnomAD v4
19g.35733056C=CA2333794631KMT2Bn.813C=
c.6441C= (p.Ala2147=)
c.4048C= (n.4048C=)
c.1725C= (p.Ala575=)
n.1660C=
c.1728C= (p.Ala576=)
c.6049C=
c.6507C= (p.Ala2169=)
c.705-541C= (n.705-541C=)
c.3829C=
c.6231C= (p.Ala2077=)
c.5943C= (p.Ala1981=)
c.3471C= (p.Ala1157=)
19g.35733056C>GCA507308342KMT2Bn.813C>G
c.6441C>G (p.Ala2147=)
c.4048C>G (n.4048C>G)
c.1725C>G (p.Ala575=)
n.1660C>G
c.1728C>G (p.Ala576=)
c.6049C>G
c.6507C>G (p.Ala2169=)
c.705-541C>G (n.705-541C>G)
c.3829C>G
c.6231C>G (p.Ala2077=)
c.5943C>G (p.Ala1981=)
c.3471C>G (p.Ala1157=)
19g.35733056C>TCA507308339KMT2Bn.813C>T
c.6441C>T (p.Ala2147=)
c.4048C>T (n.4048C>T)
c.1725C>T (p.Ala575=)
n.1660C>T
c.1728C>T (p.Ala576=)
c.6049C>T
c.6507C>T (p.Ala2169=)
c.705-541C>T (n.705-541C>T)
c.3829C>T
c.6231C>T (p.Ala2077=)
c.5943C>T (p.Ala1981=)
c.3471C>T (p.Ala1157=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35733057C>ACA405428950KMT2Bn.814C>A
c.6442C>A (p.Pro2148Thr)
c.4049C>A (n.4049C>A)
c.1726C>A (p.Pro576Thr)
n.1661C>A
c.1729C>A (p.Pro577Thr)
c.6050C>A
c.6508C>A (p.Pro2170Thr)
c.705-540C>A (n.705-540C>A)
c.3830C>A
c.6232C>A (p.Pro2078Thr)
c.5944C>A (p.Pro1982Thr)
c.3472C>A (p.Pro1158Thr)
19g.35733057C>GCA405428951KMT2Bn.814C>G
c.6442C>G (p.Pro2148Ala)
c.4049C>G (n.4049C>G)
c.1726C>G (p.Pro576Ala)
n.1661C>G
c.1729C>G (p.Pro577Ala)
c.6050C>G
c.6508C>G (p.Pro2170Ala)
c.705-540C>G (n.705-540C>G)
c.3830C>G
c.6232C>G (p.Pro2078Ala)
c.5944C>G (p.Pro1982Ala)
c.3472C>G (p.Pro1158Ala)
19g.35733057C>TCA405428954KMT2Bn.814C>T
c.6442C>T (p.Pro2148Ser)
c.4049C>T (n.4049C>T)
c.1726C>T (p.Pro576Ser)
n.1661C>T
c.1729C>T (p.Pro577Ser)
c.6050C>T
c.6508C>T (p.Pro2170Ser)
c.705-540C>T (n.705-540C>T)
c.3830C>T
c.6232C>T (p.Pro2078Ser)
c.5944C>T (p.Pro1982Ser)
c.3472C>T (p.Pro1158Ser)
19g.35733058C>ACA405428959KMT2Bn.815C>A
c.6443C>A (p.Pro2148Gln)
c.4050C>A (n.4050C>A)
c.1727C>A (p.Pro576Gln)
n.1662C>A
c.1730C>A (p.Pro577Gln)
c.6051C>A
c.6509C>A (p.Pro2170Gln)
c.705-539C>A (n.705-539C>A)
c.3831C>A
c.6233C>A (p.Pro2078Gln)
c.5945C>A (p.Pro1982Gln)
c.3473C>A (p.Pro1158Gln)
gnomAD v4
19g.35733058C>GCA405428966KMT2Bn.815C>G
c.6443C>G (p.Pro2148Arg)
c.4050C>G (n.4050C>G)
c.1727C>G (p.Pro576Arg)
n.1662C>G
c.1730C>G (p.Pro577Arg)
c.6051C>G
c.6509C>G (p.Pro2170Arg)
c.705-539C>G (n.705-539C>G)
c.3831C>G
c.6233C>G (p.Pro2078Arg)
c.5945C>G (p.Pro1982Arg)
c.3473C>G (p.Pro1158Arg)
19g.35733058C>TCA405428961KMT2Bn.815C>T
c.6443C>T (p.Pro2148Leu)
c.4050C>T (n.4050C>T)
c.1727C>T (p.Pro576Leu)
n.1662C>T
c.1730C>T (p.Pro577Leu)
c.6051C>T
c.6509C>T (p.Pro2170Leu)
c.705-539C>T (n.705-539C>T)
c.3831C>T
c.6233C>T (p.Pro2078Leu)
c.5945C>T (p.Pro1982Leu)
c.3473C>T (p.Pro1158Leu)
19g.35733059A=CA2333794632KMT2Bn.816A=
c.6444A= (p.Pro2148=)
c.4051A= (n.4051A=)
c.1728A= (p.Pro576=)
n.1663A=
c.1731A= (p.Pro577=)
c.6052A=
c.6510A= (p.Pro2170=)
c.705-538A= (n.705-538A=)
c.3832A=
c.6234A= (p.Pro2078=)
c.5946A= (p.Pro1982=)
c.3474A= (p.Pro1158=)
19g.35733059A>CCA507308355KMT2Bn.816A>C
c.6444A>C (p.Pro2148=)
c.4051A>C (n.4051A>C)
c.1728A>C (p.Pro576=)
n.1663A>C
c.1731A>C (p.Pro577=)
c.6052A>C
c.6510A>C (p.Pro2170=)
c.705-538A>C (n.705-538A>C)
c.3832A>C
c.6234A>C (p.Pro2078=)
c.5946A>C (p.Pro1982=)
c.3474A>C (p.Pro1158=)
19g.35733059A>GCA9385704KMT2Bn.816A>G
c.6444A>G (p.Pro2148=)
c.4051A>G (n.4051A>G)
c.1728A>G (p.Pro576=)
n.1663A>G
c.1731A>G (p.Pro577=)
c.6052A>G
c.6510A>G (p.Pro2170=)
c.705-538A>G (n.705-538A>G)
c.3832A>G
c.6234A>G (p.Pro2078=)
c.5946A>G (p.Pro1982=)
c.3474A>G (p.Pro1158=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733059A>TCA507308358KMT2Bn.816A>T
c.6444A>T (p.Pro2148=)
c.4051A>T (n.4051A>T)
c.1728A>T (p.Pro576=)
n.1663A>T
c.1731A>T (p.Pro577=)
c.6052A>T
c.6510A>T (p.Pro2170=)
c.705-538A>T (n.705-538A>T)
c.3832A>T
c.6234A>T (p.Pro2078=)
c.5946A>T (p.Pro1982=)
c.3474A>T (p.Pro1158=)
19g.35733060G>ACA405428973KMT2Bn.817G>A
c.6445G>A (p.Gly2149Arg)
c.4052G>A (n.4052G>A)
c.1729G>A (p.Gly577Arg)
n.1664G>A
c.1732G>A (p.Gly578Arg)
c.6053G>A
c.6511G>A (p.Gly2171Arg)
c.705-537G>A (n.705-537G>A)
c.3833G>A
c.6235G>A (p.Gly2079Arg)
c.5947G>A (p.Gly1983Arg)
c.3475G>A (p.Gly1159Arg)
19g.35733060G>CCA405428976KMT2Bn.817G>C
c.6445G>C (p.Gly2149Arg)
c.4052G>C (n.4052G>C)
c.1729G>C (p.Gly577Arg)
n.1664G>C
c.1732G>C (p.Gly578Arg)
c.6053G>C
c.6511G>C (p.Gly2171Arg)
c.705-537G>C (n.705-537G>C)
c.3833G>C
c.6235G>C (p.Gly2079Arg)
c.5947G>C (p.Gly1983Arg)
c.3475G>C (p.Gly1159Arg)
dbSNP
19g.35733060G=CA2333794633KMT2Bn.817G=
c.6445G= (p.Gly2149=)
c.4052G= (n.4052G=)
c.1729G= (p.Gly577=)
n.1664G=
c.1732G= (p.Gly578=)
c.6053G=
c.6511G= (p.Gly2171=)
c.705-537G= (n.705-537G=)
c.3833G=
c.6235G= (p.Gly2079=)
c.5947G= (p.Gly1983=)
c.3475G= (p.Gly1159=)
19g.35733060G>TCA405428984KMT2Bn.817G>T
c.6445G>T (p.Gly2149Trp)
c.4052G>T (n.4052G>T)
c.1729G>T (p.Gly577Trp)
n.1664G>T
c.1732G>T (p.Gly578Trp)
c.6053G>T
c.6511G>T (p.Gly2171Trp)
c.705-537G>T (n.705-537G>T)
c.3833G>T
c.6235G>T (p.Gly2079Trp)
c.5947G>T (p.Gly1983Trp)
c.3475G>T (p.Gly1159Trp)
gnomAD v4
19g.35733061G>ACA405428993KMT2Bn.818G>A
c.6446G>A (p.Gly2149Glu)
c.4053G>A (n.4053G>A)
c.1730G>A (p.Gly577Glu)
n.1665G>A
c.1733G>A (p.Gly578Glu)
c.6054G>A
c.6512G>A (p.Gly2171Glu)
c.705-536G>A (n.705-536G>A)
c.3834G>A
c.6236G>A (p.Gly2079Glu)
c.5948G>A (p.Gly1983Glu)
c.3476G>A (p.Gly1159Glu)
gnomAD v4
19g.35733061G>CCA405428990KMT2Bn.818G>C
c.6446G>C (p.Gly2149Ala)
c.4053G>C (n.4053G>C)
c.1730G>C (p.Gly577Ala)
n.1665G>C
c.1733G>C (p.Gly578Ala)
c.6054G>C
c.6512G>C (p.Gly2171Ala)
c.705-536G>C (n.705-536G>C)
c.3834G>C
c.6236G>C (p.Gly2079Ala)
c.5948G>C (p.Gly1983Ala)
c.3476G>C (p.Gly1159Ala)
19g.35733061G>TCA405428987KMT2Bn.818G>T
c.6446G>T (p.Gly2149Val)
c.4053G>T (n.4053G>T)
c.1730G>T (p.Gly577Val)
n.1665G>T
c.1733G>T (p.Gly578Val)
c.6054G>T
c.6512G>T (p.Gly2171Val)
c.705-536G>T (n.705-536G>T)
c.3834G>T
c.6236G>T (p.Gly2079Val)
c.5948G>T (p.Gly1983Val)
c.3476G>T (p.Gly1159Val)
19g.35733062G>ACA307796885KMT2Bn.819G>A
c.6447G>A (p.Gly2149=)
c.4054G>A (n.4054G>A)
c.1731G>A (p.Gly577=)
n.1666G>A
c.1734G>A (p.Gly578=)
c.6055G>A
c.6513G>A (p.Gly2171=)
c.705-535G>A (n.705-535G>A)
c.3835G>A
c.6237G>A (p.Gly2079=)
c.5949G>A (p.Gly1983=)
c.3477G>A (p.Gly1159=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35733062G>CCA507308363KMT2Bn.819G>C
c.6447G>C (p.Gly2149=)
c.4054G>C (n.4054G>C)
c.1731G>C (p.Gly577=)
n.1666G>C
c.1734G>C (p.Gly578=)
c.6055G>C
c.6513G>C (p.Gly2171=)
c.705-535G>C (n.705-535G>C)
c.3835G>C
c.6237G>C (p.Gly2079=)
c.5949G>C (p.Gly1983=)
c.3477G>C (p.Gly1159=)
19g.35733062G=CA2333794634KMT2Bn.819G=
c.6447G= (p.Gly2149=)
c.4054G= (n.4054G=)
c.1731G= (p.Gly577=)
n.1666G=
c.1734G= (p.Gly578=)
c.6055G=
c.6513G= (p.Gly2171=)
c.705-535G= (n.705-535G=)
c.3835G=
c.6237G= (p.Gly2079=)
c.5949G= (p.Gly1983=)
c.3477G= (p.Gly1159=)
19g.35733062G>TCA9385705KMT2Bn.819G>T
c.6447G>T (p.Gly2149=)
c.4054G>T (n.4054G>T)
c.1731G>T (p.Gly577=)
n.1666G>T
c.1734G>T (p.Gly578=)
c.6055G>T
c.6513G>T (p.Gly2171=)
c.705-535G>T (n.705-535G>T)
c.3835G>T
c.6237G>T (p.Gly2079=)
c.5949G>T (p.Gly1983=)
c.3477G>T (p.Gly1159=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733063G>ACA9385706KMT2Bn.820G>A
c.6448G>A (p.Val2150Ile)
c.4055G>A (n.4055G>A)
c.1732G>A (p.Val578Ile)
n.1667G>A
c.1735G>A (p.Val579Ile)
c.6056G>A
c.6514G>A (p.Val2172Ile)
c.705-534G>A (n.705-534G>A)
c.3836G>A
c.6238G>A (p.Val2080Ile)
c.5950G>A (p.Val1984Ile)
c.3478G>A (p.Val1160Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733063G>CCA405429001KMT2Bn.820G>C
c.6448G>C (p.Val2150Leu)
c.4055G>C (n.4055G>C)
c.1732G>C (p.Val578Leu)
n.1667G>C
c.1735G>C (p.Val579Leu)
c.6056G>C
c.6514G>C (p.Val2172Leu)
c.705-534G>C (n.705-534G>C)
c.3836G>C
c.6238G>C (p.Val2080Leu)
c.5950G>C (p.Val1984Leu)
c.3478G>C (p.Val1160Leu)
19g.35733063G=CA2333794635KMT2Bn.820G=
c.6448G= (p.Val2150=)
c.4055G= (n.4055G=)
c.1732G= (p.Val578=)
n.1667G=
c.1735G= (p.Val579=)
c.6056G=
c.6514G= (p.Val2172=)
c.705-534G= (n.705-534G=)
c.3836G=
c.6238G= (p.Val2080=)
c.5950G= (p.Val1984=)
c.3478G= (p.Val1160=)
19g.35733063G>TCA405429004KMT2Bn.820G>T
c.6448G>T (p.Val2150Phe)
c.4055G>T (n.4055G>T)
c.1732G>T (p.Val578Phe)
n.1667G>T
c.1735G>T (p.Val579Phe)
c.6056G>T
c.6514G>T (p.Val2172Phe)
c.705-534G>T (n.705-534G>T)
c.3836G>T
c.6238G>T (p.Val2080Phe)
c.5950G>T (p.Val1984Phe)
c.3478G>T (p.Val1160Phe)
gnomAD v4
19g.35733064T>ACA405429008KMT2Bn.821T>A
c.6449T>A (p.Val2150Asp)
c.4056T>A (n.4056T>A)
c.1733T>A (p.Val578Asp)
n.1668T>A
c.1736T>A (p.Val579Asp)
c.6057T>A
c.6515T>A (p.Val2172Asp)
c.705-533T>A (n.705-533T>A)
c.3837T>A
c.6239T>A (p.Val2080Asp)
c.5951T>A (p.Val1984Asp)
c.3479T>A (p.Val1160Asp)
19g.35733064T>CCA405429011KMT2Bn.821T>C
c.6449T>C (p.Val2150Ala)
c.4056T>C (n.4056T>C)
c.1733T>C (p.Val578Ala)
n.1668T>C
c.1736T>C (p.Val579Ala)
c.6057T>C
c.6515T>C (p.Val2172Ala)
c.705-533T>C (n.705-533T>C)
c.3837T>C
c.6239T>C (p.Val2080Ala)
c.5951T>C (p.Val1984Ala)
c.3479T>C (p.Val1160Ala)
dbSNP gnomAD v2 gnomAD v4
19g.35733064T>GCA405429013KMT2Bn.821T>G
c.6449T>G (p.Val2150Gly)
c.4056T>G (n.4056T>G)
c.1733T>G (p.Val578Gly)
n.1668T>G
c.1736T>G (p.Val579Gly)
c.6057T>G
c.6515T>G (p.Val2172Gly)
c.705-533T>G (n.705-533T>G)
c.3837T>G
c.6239T>G (p.Val2080Gly)
c.5951T>G (p.Val1984Gly)
c.3479T>G (p.Val1160Gly)
19g.35733064T=CA2333794636KMT2Bn.821T=
c.6449T= (p.Val2150=)
c.4056T= (n.4056T=)
c.1733T= (p.Val578=)
n.1668T=
c.1736T= (p.Val579=)
c.6057T=
c.6515T= (p.Val2172=)
c.705-533T= (n.705-533T=)
c.3837T=
c.6239T= (p.Val2080=)
c.5951T= (p.Val1984=)
c.3479T= (p.Val1160=)
19g.35733064_35733067delinsCCCAACA2695228601KMT2Bn.821_824delinsCCCAA
c.6449_6452delinsCCCAA (p.Val2150AlafsTer11)
c.4056_4059delinsCCCAA (n.4056_4059delinsCCCAA)
c.1733_1736delinsCCCAA (p.Val578AlafsTer11)
n.1668_1671delinsCCCAA
c.1736_1739delinsCCCAA (p.Val579AlafsTer11)
c.6057_6060delinsCCCAA
c.6515_6518delinsCCCAA (p.Val2172AlafsTer11)
c.705-533_705-530delinsCCCAA (n.705-533_705-530delinsCCCAA)
c.3837_3840delinsCCCAA
c.6239_6242delinsCCCAA (p.Val2080AlafsTer11)
c.5951_5954delinsCCCAA (p.Val1984AlafsTer11)
c.3479_3482delinsCCCAA (p.Val1160AlafsTer11)
19g.35733065C>ACA507308371KMT2Bn.822C>A
c.6450C>A (p.Val2150=)
c.4057C>A (n.4057C>A)
c.1734C>A (p.Val578=)
n.1669C>A
c.1737C>A (p.Val579=)
c.6058C>A
c.6516C>A (p.Val2172=)
c.705-532C>A (n.705-532C>A)
c.3838C>A
c.6240C>A (p.Val2080=)
c.5952C>A (p.Val1984=)
c.3480C>A (p.Val1160=)
19g.35733065C>GCA507308372KMT2Bn.822C>G
c.6450C>G (p.Val2150=)
c.4057C>G (n.4057C>G)
c.1734C>G (p.Val578=)
n.1669C>G
c.1737C>G (p.Val579=)
c.6058C>G
c.6516C>G (p.Val2172=)
c.705-532C>G (n.705-532C>G)
c.3838C>G
c.6240C>G (p.Val2080=)
c.5952C>G (p.Val1984=)
c.3480C>G (p.Val1160=)
19g.35733065C>TCA507308373KMT2Bn.822C>T
c.6450C>T (p.Val2150=)
c.4057C>T (n.4057C>T)
c.1734C>T (p.Val578=)
n.1669C>T
c.1737C>T (p.Val579=)
c.6058C>T
c.6516C>T (p.Val2172=)
c.705-532C>T (n.705-532C>T)
c.3838C>T
c.6240C>T (p.Val2080=)
c.5952C>T (p.Val1984=)
c.3480C>T (p.Val1160=)
19g.35733066C>ACA507308374KMT2Bn.823C>A
c.6451C>A (p.Arg2151=)
c.4058C>A (n.4058C>A)
c.1735C>A (p.Arg579=)
n.1670C>A
c.1738C>A (p.Arg580=)
c.6059C>A
c.6517C>A (p.Arg2173=)
c.705-531C>A (n.705-531C>A)
c.3839C>A
c.6241C>A (p.Arg2081=)
c.5953C>A (p.Arg1985=)
c.3481C>A (p.Arg1161=)
19g.35733066C=CA2333794637KMT2Bn.823C=
c.6451C= (p.Arg2151=)
c.4058C= (n.4058C=)
c.1735C= (p.Arg579=)
n.1670C=
c.1738C= (p.Arg580=)
c.6059C=
c.6517C= (p.Arg2173=)
c.705-531C= (n.705-531C=)
c.3839C=
c.6241C= (p.Arg2081=)
c.5953C= (p.Arg1985=)
c.3481C= (p.Arg1161=)
19g.35733066C>GCA405429018KMT2Bn.823C>G
c.6451C>G (p.Arg2151Gly)
c.4058C>G (n.4058C>G)
c.1735C>G (p.Arg579Gly)
n.1670C>G
c.1738C>G (p.Arg580Gly)
c.6059C>G
c.6517C>G (p.Arg2173Gly)
c.705-531C>G (n.705-531C>G)
c.3839C>G
c.6241C>G (p.Arg2081Gly)
c.5953C>G (p.Arg1985Gly)
c.3481C>G (p.Arg1161Gly)
ClinVar
19g.35733066C>TCA405429020KMT2Bn.823C>T
c.6451C>T (p.Arg2151Trp)
c.4058C>T (n.4058C>T)
c.1735C>T (p.Arg579Trp)
n.1670C>T
c.1738C>T (p.Arg580Trp)
c.6059C>T
c.6517C>T (p.Arg2173Trp)
c.705-531C>T (n.705-531C>T)
c.3839C>T
c.6241C>T (p.Arg2081Trp)
c.5953C>T (p.Arg1985Trp)
c.3481C>T (p.Arg1161Trp)
dbSNP gnomAD v4
19g.35733066_35733067insACA915952931KMT2Bn.823_824insA
c.6451_6452insA (p.Arg2151GlnfsTer10)
c.4058_4059insA (n.4058_4059insA)
c.1735_1736insA (p.Arg579GlnfsTer10)
n.1670_1671insA
c.1738_1739insA (p.Arg580GlnfsTer10)
c.6059_6060insA
c.6517_6518insA (p.Arg2173GlnfsTer10)
c.705-531_705-530insA (n.705-531_705-530insA)
c.3839_3840insA
c.6241_6242insA (p.Arg2081GlnfsTer10)
c.5953_5954insA (p.Arg1985GlnfsTer10)
c.3481_3482insA (p.Arg1161GlnfsTer10)
ClinVar dbSNP
19g.35733067G>ACA307796896KMT2Bn.824G>A
c.6452G>A (p.Arg2151Gln)
c.4059G>A (n.4059G>A)
c.1736G>A (p.Arg579Gln)
n.1671G>A
c.1739G>A (p.Arg580Gln)
c.6060G>A
c.6518G>A (p.Arg2173Gln)
c.705-530G>A (n.705-530G>A)
c.3840G>A
c.6242G>A (p.Arg2081Gln)
c.5954G>A (p.Arg1985Gln)
c.3482G>A (p.Arg1161Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35733067G>CCA9385707KMT2Bn.824G>C
c.6452G>C (p.Arg2151Pro)
c.4059G>C (n.4059G>C)
c.1736G>C (p.Arg579Pro)
n.1671G>C
c.1739G>C (p.Arg580Pro)
c.6060G>C
c.6518G>C (p.Arg2173Pro)
c.705-530G>C (n.705-530G>C)
c.3840G>C
c.6242G>C (p.Arg2081Pro)
c.5954G>C (p.Arg1985Pro)
c.3482G>C (p.Arg1161Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35733067G=CA2333794638KMT2Bn.824G=
c.6452G= (p.Arg2151=)
c.4059G= (n.4059G=)
c.1736G= (p.Arg579=)
n.1671G=
c.1739G= (p.Arg580=)
c.6060G=
c.6518G= (p.Arg2173=)
c.705-530G= (n.705-530G=)
c.3840G=
c.6242G= (p.Arg2081=)
c.5954G= (p.Arg1985=)
c.3482G= (p.Arg1161=)
19g.35733067G>TCA405429029KMT2Bn.824G>T
c.6452G>T (p.Arg2151Leu)
c.4059G>T (n.4059G>T)
c.1736G>T (p.Arg579Leu)
n.1671G>T
c.1739G>T (p.Arg580Leu)
c.6060G>T
c.6518G>T (p.Arg2173Leu)
c.705-530G>T (n.705-530G>T)
c.3840G>T
c.6242G>T (p.Arg2081Leu)
c.5954G>T (p.Arg1985Leu)
c.3482G>T (p.Arg1161Leu)
19g.35733068G>ACA307796906KMT2Bn.825G>A
c.6453G>A (p.Arg2151=)
c.4060G>A (n.4060G>A)
c.1737G>A (p.Arg579=)
n.1672G>A
c.1740G>A (p.Arg580=)
c.6061G>A
c.6519G>A (p.Arg2173=)
c.705-529G>A (n.705-529G>A)
c.3841G>A
c.6243G>A (p.Arg2081=)
c.5955G>A (p.Arg1985=)
c.3483G>A (p.Arg1161=)
dbSNP gnomAD v2 gnomAD v4
19g.35733068G>CCA507308385KMT2Bn.825G>C
c.6453G>C (p.Arg2151=)
c.4060G>C (n.4060G>C)
c.1737G>C (p.Arg579=)
n.1672G>C
c.1740G>C (p.Arg580=)
c.6061G>C
c.6519G>C (p.Arg2173=)
c.705-529G>C (n.705-529G>C)
c.3841G>C
c.6243G>C (p.Arg2081=)
c.5955G>C (p.Arg1985=)
c.3483G>C (p.Arg1161=)
gnomAD v4
19g.35733068G=CA2333794639KMT2Bn.825G=
c.6453G= (p.Arg2151=)
c.4060G= (n.4060G=)
c.1737G= (p.Arg579=)
n.1672G=
c.1740G= (p.Arg580=)
c.6061G=
c.6519G= (p.Arg2173=)
c.705-529G= (n.705-529G=)
c.3841G=
c.6243G= (p.Arg2081=)
c.5955G= (p.Arg1985=)
c.3483G= (p.Arg1161=)
19g.35733068G>TCA9385708KMT2Bn.825G>T
c.6453G>T (p.Arg2151=)
c.4060G>T (n.4060G>T)
c.1737G>T (p.Arg579=)
n.1672G>T
c.1740G>T (p.Arg580=)
c.6061G>T
c.6519G>T (p.Arg2173=)
c.705-529G>T (n.705-529G>T)
c.3841G>T
c.6243G>T (p.Arg2081=)
c.5955G>T (p.Arg1985=)
c.3483G>T (p.Arg1161=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733069G>ACA9385709KMT2Bn.826G>A
c.6454G>A (p.Val2152Met)
c.4061G>A (n.4061G>A)
c.1738G>A (p.Val580Met)
n.1673G>A
c.1741G>A (p.Val581Met)
c.6062G>A
c.6520G>A (p.Val2174Met)
c.705-528G>A (n.705-528G>A)
c.3842G>A
c.6244G>A (p.Val2082Met)
c.5956G>A (p.Val1986Met)
c.3484G>A (p.Val1162Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733069G>CCA405429037KMT2Bn.826G>C
c.6454G>C (p.Val2152Leu)
c.4061G>C (n.4061G>C)
c.1738G>C (p.Val580Leu)
n.1673G>C
c.1741G>C (p.Val581Leu)
c.6062G>C
c.6520G>C (p.Val2174Leu)
c.705-528G>C (n.705-528G>C)
c.3842G>C
c.6244G>C (p.Val2082Leu)
c.5956G>C (p.Val1986Leu)
c.3484G>C (p.Val1162Leu)
19g.35733069G=CA2333794640KMT2Bn.826G=
c.6454G= (p.Val2152=)
c.4061G= (n.4061G=)
c.1738G= (p.Val580=)
n.1673G=
c.1741G= (p.Val581=)
c.6062G=
c.6520G= (p.Val2174=)
c.705-528G= (n.705-528G=)
c.3842G=
c.6244G= (p.Val2082=)
c.5956G= (p.Val1986=)
c.3484G= (p.Val1162=)
19g.35733069G>TCA405429036KMT2Bn.826G>T
c.6454G>T (p.Val2152Leu)
c.4061G>T (n.4061G>T)
c.1738G>T (p.Val580Leu)
n.1673G>T
c.1741G>T (p.Val581Leu)
c.6062G>T
c.6520G>T (p.Val2174Leu)
c.705-528G>T (n.705-528G>T)
c.3842G>T
c.6244G>T (p.Val2082Leu)
c.5956G>T (p.Val1986Leu)
c.3484G>T (p.Val1162Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35733070T>ACA405429043KMT2Bn.827T>A
c.6455T>A (p.Val2152Glu)
c.4062T>A (n.4062T>A)
c.1739T>A (p.Val580Glu)
n.1674T>A
c.1742T>A (p.Val581Glu)
c.6063T>A
c.6521T>A (p.Val2174Glu)
c.705-527T>A (n.705-527T>A)
c.3843T>A
c.6245T>A (p.Val2082Glu)
c.5957T>A (p.Val1986Glu)
c.3485T>A (p.Val1162Glu)
19g.35733070T>CCA405429046KMT2Bn.827T>C
c.6455T>C (p.Val2152Ala)
c.4062T>C (n.4062T>C)
c.1739T>C (p.Val580Ala)
n.1674T>C
c.1742T>C (p.Val581Ala)
c.6063T>C
c.6521T>C (p.Val2174Ala)
c.705-527T>C (n.705-527T>C)
c.3843T>C
c.6245T>C (p.Val2082Ala)
c.5957T>C (p.Val1986Ala)
c.3485T>C (p.Val1162Ala)
19g.35733070T>GCA405429048KMT2Bn.827T>G
c.6455T>G (p.Val2152Gly)
c.4062T>G (n.4062T>G)
c.1739T>G (p.Val580Gly)
n.1674T>G
c.1742T>G (p.Val581Gly)
c.6063T>G
c.6521T>G (p.Val2174Gly)
c.705-527T>G (n.705-527T>G)
c.3843T>G
c.6245T>G (p.Val2082Gly)
c.5957T>G (p.Val1986Gly)
c.3485T>G (p.Val1162Gly)
gnomAD v4
19g.35733071G>ACA507308387KMT2Bn.828G>A
c.6456G>A (p.Val2152=)
c.4063G>A (n.4063G>A)
c.1740G>A (p.Val580=)
n.1675G>A
c.1743G>A (p.Val581=)
c.6064G>A
c.6522G>A (p.Val2174=)
c.705-526G>A (n.705-526G>A)
c.3844G>A
c.6246G>A (p.Val2082=)
c.5958G>A (p.Val1986=)
c.3486G>A (p.Val1162=)
19g.35733071G>CCA507308388KMT2Bn.828G>C
c.6456G>C (p.Val2152=)
c.4063G>C (n.4063G>C)
c.1740G>C (p.Val580=)
n.1675G>C
c.1743G>C (p.Val581=)
c.6064G>C
c.6522G>C (p.Val2174=)
c.705-526G>C (n.705-526G>C)
c.3844G>C
c.6246G>C (p.Val2082=)
c.5958G>C (p.Val1986=)
c.3486G>C (p.Val1162=)
19g.35733071G=CA2333794641KMT2Bn.828G=
c.6456G= (p.Val2152=)
c.4063G= (n.4063G=)
c.1740G= (p.Val580=)
n.1675G=
c.1743G= (p.Val581=)
c.6064G=
c.6522G= (p.Val2174=)
c.705-526G= (n.705-526G=)
c.3844G=
c.6246G= (p.Val2082=)
c.5958G= (p.Val1986=)
c.3486G= (p.Val1162=)
19g.35733071G>TCA507308390KMT2Bn.828G>T
c.6456G>T (p.Val2152=)
c.4063G>T (n.4063G>T)
c.1740G>T (p.Val580=)
n.1675G>T
c.1743G>T (p.Val581=)
c.6064G>T
c.6522G>T (p.Val2174=)
c.705-526G>T (n.705-526G>T)
c.3844G>T
c.6246G>T (p.Val2082=)
c.5958G>T (p.Val1986=)
c.3486G>T (p.Val1162=)
dbSNP COSMIC
19g.35733072T>ACA405429051KMT2Bn.829T>A
c.6457T>A (p.Leu2153Ile)
c.4064T>A (n.4064T>A)
c.1741T>A (p.Leu581Ile)
n.1676T>A
c.1744T>A (p.Leu582Ile)
c.6065T>A
c.6523T>A (p.Leu2175Ile)
c.705-525T>A (n.705-525T>A)
c.3845T>A
c.6247T>A (p.Leu2083Ile)
c.5959T>A (p.Leu1987Ile)
c.3487T>A (p.Leu1163Ile)
19g.35733072T>CCA507308393KMT2Bn.829T>C
c.6457T>C (p.Leu2153=)
c.4064T>C (n.4064T>C)
c.1741T>C (p.Leu581=)
n.1676T>C
c.1744T>C (p.Leu582=)
c.6065T>C
c.6523T>C (p.Leu2175=)
c.705-525T>C (n.705-525T>C)
c.3845T>C
c.6247T>C (p.Leu2083=)
c.5959T>C (p.Leu1987=)
c.3487T>C (p.Leu1163=)
19g.35733072T>GCA405429052KMT2Bn.829T>G
c.6457T>G (p.Leu2153Val)
c.4064T>G (n.4064T>G)
c.1741T>G (p.Leu581Val)
n.1676T>G
c.1744T>G (p.Leu582Val)
c.6065T>G
c.6523T>G (p.Leu2175Val)
c.705-525T>G (n.705-525T>G)
c.3845T>G
c.6247T>G (p.Leu2083Val)
c.5959T>G (p.Leu1987Val)
c.3487T>G (p.Leu1163Val)
19g.35733073T>ACA405429056KMT2Bn.830T>A
c.6458T>A (p.Leu2153Ter)
c.4065T>A (n.4065T>A)
c.1742T>A (p.Leu581Ter)
n.1677T>A
c.1745T>A (p.Leu582Ter)
c.6066T>A
c.6524T>A (p.Leu2175Ter)
c.705-524T>A (n.705-524T>A)
c.3846T>A
c.6248T>A (p.Leu2083Ter)
c.5960T>A (p.Leu1987Ter)
c.3488T>A (p.Leu1163Ter)
19g.35733073T>CCA9385710KMT2Bn.830T>C
c.6458T>C (p.Leu2153Ser)
c.4065T>C (n.4065T>C)
c.1742T>C (p.Leu581Ser)
n.1677T>C
c.1745T>C (p.Leu582Ser)
c.6066T>C
c.6524T>C (p.Leu2175Ser)
c.705-524T>C (n.705-524T>C)
c.3846T>C
c.6248T>C (p.Leu2083Ser)
c.5960T>C (p.Leu1987Ser)
c.3488T>C (p.Leu1163Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35733073T>GCA405429061KMT2Bn.830T>G
c.6458T>G (p.Leu2153Ter)
c.4065T>G (n.4065T>G)
c.1742T>G (p.Leu581Ter)
n.1677T>G
c.1745T>G (p.Leu582Ter)
c.6066T>G
c.6524T>G (p.Leu2175Ter)
c.705-524T>G (n.705-524T>G)
c.3846T>G
c.6248T>G (p.Leu2083Ter)
c.5960T>G (p.Leu1987Ter)
c.3488T>G (p.Leu1163Ter)
19g.35733073T=CA2333794642KMT2Bn.830T=
c.6458T= (p.Leu2153=)
c.4065T= (n.4065T=)
c.1742T= (p.Leu581=)
n.1677T=
c.1745T= (p.Leu582=)
c.6066T=
c.6524T= (p.Leu2175=)
c.705-524T= (n.705-524T=)
c.3846T=
c.6248T= (p.Leu2083=)
c.5960T= (p.Leu1987=)
c.3488T= (p.Leu1163=)
19g.35733074A=CA2333794643KMT2Bn.831A=
c.6459A= (p.Leu2153=)
c.4066A= (n.4066A=)
c.1743A= (p.Leu581=)
n.1678A=
c.1746A= (p.Leu582=)
c.6067A=
c.6525A= (p.Leu2175=)
c.705-523A= (n.705-523A=)
c.3847A=
c.6249A= (p.Leu2083=)
c.5961A= (p.Leu1987=)
c.3489A= (p.Leu1163=)
19g.35733074A>CCA405429065KMT2Bn.831A>C
c.6459A>C (p.Leu2153Phe)
c.4066A>C (n.4066A>C)
c.1743A>C (p.Leu581Phe)
n.1678A>C
c.1746A>C (p.Leu582Phe)
c.6067A>C
c.6525A>C (p.Leu2175Phe)
c.705-523A>C (n.705-523A>C)
c.3847A>C
c.6249A>C (p.Leu2083Phe)
c.5961A>C (p.Leu1987Phe)
c.3489A>C (p.Leu1163Phe)
dbSNP gnomAD v4
19g.35733074A>GCA507308398KMT2Bn.831A>G
c.6459A>G (p.Leu2153=)
c.4066A>G (n.4066A>G)
c.1743A>G (p.Leu581=)
n.1678A>G
c.1746A>G (p.Leu582=)
c.6067A>G
c.6525A>G (p.Leu2175=)
c.705-523A>G (n.705-523A>G)
c.3847A>G
c.6249A>G (p.Leu2083=)
c.5961A>G (p.Leu1987=)
c.3489A>G (p.Leu1163=)
19g.35733074A>TCA405429067KMT2Bn.831A>T
c.6459A>T (p.Leu2153Phe)
c.4066A>T (n.4066A>T)
c.1743A>T (p.Leu581Phe)
n.1678A>T
c.1746A>T (p.Leu582Phe)
c.6067A>T
c.6525A>T (p.Leu2175Phe)
c.705-523A>T (n.705-523A>T)
c.3847A>T
c.6249A>T (p.Leu2083Phe)
c.5961A>T (p.Leu1987Phe)
c.3489A>T (p.Leu1163Phe)
19g.35733075A>CCA405429071KMT2Bn.832A>C
c.6460A>C (p.Ser2154Arg)
c.4067A>C (n.4067A>C)
c.1744A>C (p.Ser582Arg)
n.1679A>C
c.1747A>C (p.Ser583Arg)
c.6068A>C
c.6526A>C (p.Ser2176Arg)
c.705-522A>C (n.705-522A>C)
c.3848A>C
c.6250A>C (p.Ser2084Arg)
c.5962A>C (p.Ser1988Arg)
c.3490A>C (p.Ser1164Arg)
19g.35733075A>GCA405429074KMT2Bn.832A>G
c.6460A>G (p.Ser2154Gly)
c.4067A>G (n.4067A>G)
c.1744A>G (p.Ser582Gly)
n.1679A>G
c.1747A>G (p.Ser583Gly)
c.6068A>G
c.6526A>G (p.Ser2176Gly)
c.705-522A>G (n.705-522A>G)
c.3848A>G
c.6250A>G (p.Ser2084Gly)
c.5962A>G (p.Ser1988Gly)
c.3490A>G (p.Ser1164Gly)
19g.35733075A>TCA405429076KMT2Bn.832A>T
c.6460A>T (p.Ser2154Cys)
c.4067A>T (n.4067A>T)
c.1744A>T (p.Ser582Cys)
n.1679A>T
c.1747A>T (p.Ser583Cys)
c.6068A>T
c.6526A>T (p.Ser2176Cys)
c.705-522A>T (n.705-522A>T)
c.3848A>T
c.6250A>T (p.Ser2084Cys)
c.5962A>T (p.Ser1988Cys)
c.3490A>T (p.Ser1164Cys)
19g.35733076G>ACA405429083KMT2Bn.833G>A
c.6461G>A (p.Ser2154Asn)
c.4068G>A (n.4068G>A)
c.1745G>A (p.Ser582Asn)
n.1680G>A
c.1748G>A (p.Ser583Asn)
c.6069G>A
c.6527G>A (p.Ser2176Asn)
c.705-521G>A (n.705-521G>A)
c.3849G>A
c.6251G>A (p.Ser2084Asn)
c.5963G>A (p.Ser1988Asn)
c.3491G>A (p.Ser1164Asn)
19g.35733076G>CCA405429087KMT2Bn.833G>C
c.6461G>C (p.Ser2154Thr)
c.4068G>C (n.4068G>C)
c.1745G>C (p.Ser582Thr)
n.1680G>C
c.1748G>C (p.Ser583Thr)
c.6069G>C
c.6527G>C (p.Ser2176Thr)
c.705-521G>C (n.705-521G>C)
c.3849G>C
c.6251G>C (p.Ser2084Thr)
c.5963G>C (p.Ser1988Thr)
c.3491G>C (p.Ser1164Thr)
19g.35733076G>TCA405429081KMT2Bn.833G>T
c.6461G>T (p.Ser2154Ile)
c.4068G>T (n.4068G>T)
c.1745G>T (p.Ser582Ile)
n.1680G>T
c.1748G>T (p.Ser583Ile)
c.6069G>T
c.6527G>T (p.Ser2176Ile)
c.705-521G>T (n.705-521G>T)
c.3849G>T
c.6251G>T (p.Ser2084Ile)
c.5963G>T (p.Ser1988Ile)
c.3491G>T (p.Ser1164Ile)
19g.35733077C>ACA405429090KMT2Bn.834C>A
c.6462C>A (p.Ser2154Arg)
c.4069C>A (n.4069C>A)
c.1746C>A (p.Ser582Arg)
n.1681C>A
c.1749C>A (p.Ser583Arg)
c.6070C>A
c.6528C>A (p.Ser2176Arg)
c.705-520C>A (n.705-520C>A)
c.3850C>A
c.6252C>A (p.Ser2084Arg)
c.5964C>A (p.Ser1988Arg)
c.3492C>A (p.Ser1164Arg)
dbSNP gnomAD v2 gnomAD v4
19g.35733077C=CA2333794644KMT2Bn.834C=
c.6462C= (p.Ser2154=)
c.4069C= (n.4069C=)
c.1746C= (p.Ser582=)
n.1681C=
c.1749C= (p.Ser583=)
c.6070C=
c.6528C= (p.Ser2176=)
c.705-520C= (n.705-520C=)
c.3850C=
c.6252C= (p.Ser2084=)
c.5964C= (p.Ser1988=)
c.3492C= (p.Ser1164=)
19g.35733077C>GCA405429093KMT2Bn.834C>G
c.6462C>G (p.Ser2154Arg)
c.4069C>G (n.4069C>G)
c.1746C>G (p.Ser582Arg)
n.1681C>G
c.1749C>G (p.Ser583Arg)
c.6070C>G
c.6528C>G (p.Ser2176Arg)
c.705-520C>G (n.705-520C>G)
c.3850C>G
c.6252C>G (p.Ser2084Arg)
c.5964C>G (p.Ser1988Arg)
c.3492C>G (p.Ser1164Arg)
ClinVar dbSNP gnomAD v4
19g.35733077C>TCA507308405KMT2Bn.834C>T
c.6462C>T (p.Ser2154=)
c.4069C>T (n.4069C>T)
c.1746C>T (p.Ser582=)
n.1681C>T
c.1749C>T (p.Ser583=)
c.6070C>T
c.6528C>T (p.Ser2176=)
c.705-520C>T (n.705-520C>T)
c.3850C>T
c.6252C>T (p.Ser2084=)
c.5964C>T (p.Ser1988=)
c.3492C>T (p.Ser1164=)
gnomAD v4
19g.35733078C>ACA405429096KMT2Bn.835C>A
c.6463C>A (p.Leu2155Ile)
c.4070C>A (n.4070C>A)
c.1747C>A (p.Leu583Ile)
n.1682C>A
c.1750C>A (p.Leu584Ile)
c.6071C>A
c.6529C>A (p.Leu2177Ile)
c.705-519C>A (n.705-519C>A)
c.3851C>A
c.6253C>A (p.Leu2085Ile)
c.5965C>A (p.Leu1989Ile)
c.3493C>A (p.Leu1165Ile)
19g.35733078C>GCA405429099KMT2Bn.835C>G
c.6463C>G (p.Leu2155Val)
c.4070C>G (n.4070C>G)
c.1747C>G (p.Leu583Val)
n.1682C>G
c.1750C>G (p.Leu584Val)
c.6071C>G
c.6529C>G (p.Leu2177Val)
c.705-519C>G (n.705-519C>G)
c.3851C>G
c.6253C>G (p.Leu2085Val)
c.5965C>G (p.Leu1989Val)
c.3493C>G (p.Leu1165Val)
gnomAD v4
19g.35733078C>TCA405429103KMT2Bn.835C>T
c.6463C>T (p.Leu2155Phe)
c.4070C>T (n.4070C>T)
c.1747C>T (p.Leu583Phe)
n.1682C>T
c.1750C>T (p.Leu584Phe)
c.6071C>T
c.6529C>T (p.Leu2177Phe)
c.705-519C>T (n.705-519C>T)
c.3851C>T
c.6253C>T (p.Leu2085Phe)
c.5965C>T (p.Leu1989Phe)
c.3493C>T (p.Leu1165Phe)
19g.35733079T>ACA405429107KMT2Bn.836T>A
c.6464T>A (p.Leu2155His)
c.4071T>A (n.4071T>A)
c.1748T>A (p.Leu583His)
n.1683T>A
c.1751T>A (p.Leu584His)
c.6072T>A
c.6530T>A (p.Leu2177His)
c.705-518T>A (n.705-518T>A)
c.3852T>A
c.6254T>A (p.Leu2085His)
c.5966T>A (p.Leu1989His)
c.3494T>A (p.Leu1165His)
19g.35733079T>CCA405429109KMT2Bn.836T>C
c.6464T>C (p.Leu2155Pro)
c.4071T>C (n.4071T>C)
c.1748T>C (p.Leu583Pro)
n.1683T>C
c.1751T>C (p.Leu584Pro)
c.6072T>C
c.6530T>C (p.Leu2177Pro)
c.705-518T>C (n.705-518T>C)
c.3852T>C
c.6254T>C (p.Leu2085Pro)
c.5966T>C (p.Leu1989Pro)
c.3494T>C (p.Leu1165Pro)
19g.35733079T>GCA405429112KMT2Bn.836T>G
c.6464T>G (p.Leu2155Arg)
c.4071T>G (n.4071T>G)
c.1748T>G (p.Leu583Arg)
n.1683T>G
c.1751T>G (p.Leu584Arg)
c.6072T>G
c.6530T>G (p.Leu2177Arg)
c.705-518T>G (n.705-518T>G)
c.3852T>G
c.6254T>G (p.Leu2085Arg)
c.5966T>G (p.Leu1989Arg)
c.3494T>G (p.Leu1165Arg)
19g.35733080T>ACA507308411KMT2Bn.837T>A
c.6465T>A (p.Leu2155=)
c.4072T>A (n.4072T>A)
c.1749T>A (p.Leu583=)
n.1684T>A
c.1752T>A (p.Leu584=)
c.6073T>A
c.6531T>A (p.Leu2177=)
c.705-517T>A (n.705-517T>A)
c.3853T>A
c.6255T>A (p.Leu2085=)
c.5967T>A (p.Leu1989=)
c.3495T>A (p.Leu1165=)
19g.35733080T>CCA507308419KMT2Bn.837T>C
c.6465T>C (p.Leu2155=)
c.4072T>C (n.4072T>C)
c.1749T>C (p.Leu583=)
n.1684T>C
c.1752T>C (p.Leu584=)
c.6073T>C
c.6531T>C (p.Leu2177=)
c.705-517T>C (n.705-517T>C)
c.3853T>C
c.6255T>C (p.Leu2085=)
c.5967T>C (p.Leu1989=)
c.3495T>C (p.Leu1165=)
19g.35733080T>GCA507308416KMT2Bn.837T>G
c.6465T>G (p.Leu2155=)
c.4072T>G (n.4072T>G)
c.1749T>G (p.Leu583=)
n.1684T>G
c.1752T>G (p.Leu584=)
c.6073T>G
c.6531T>G (p.Leu2177=)
c.705-517T>G (n.705-517T>G)
c.3853T>G
c.6255T>G (p.Leu2085=)
c.5967T>G (p.Leu1989=)
c.3495T>G (p.Leu1165=)
19g.35733081G>ACA405429116KMT2Bn.838G>A
c.6466G>A (p.Gly2156Ser)
c.4073G>A (n.4073G>A)
c.1750G>A (p.Gly584Ser)
n.1685G>A
c.1753G>A (p.Gly585Ser)
c.6074G>A
c.6532G>A (p.Gly2178Ser)
c.705-516G>A (n.705-516G>A)
c.3854G>A
c.6256G>A (p.Gly2086Ser)
c.5968G>A (p.Gly1990Ser)
c.3496G>A (p.Gly1166Ser)
19g.35733081G>CCA405429118KMT2Bn.838G>C
c.6466G>C (p.Gly2156Arg)
c.4073G>C (n.4073G>C)
c.1750G>C (p.Gly584Arg)
n.1685G>C
c.1753G>C (p.Gly585Arg)
c.6074G>C
c.6532G>C (p.Gly2178Arg)
c.705-516G>C (n.705-516G>C)
c.3854G>C
c.6256G>C (p.Gly2086Arg)
c.5968G>C (p.Gly1990Arg)
c.3496G>C (p.Gly1166Arg)
19g.35733081G>TCA405429121KMT2Bn.838G>T
c.6466G>T (p.Gly2156Cys)
c.4073G>T (n.4073G>T)
c.1750G>T (p.Gly584Cys)
n.1685G>T
c.1753G>T (p.Gly585Cys)
c.6074G>T
c.6532G>T (p.Gly2178Cys)
c.705-516G>T (n.705-516G>T)
c.3854G>T
c.6256G>T (p.Gly2086Cys)
c.5968G>T (p.Gly1990Cys)
c.3496G>T (p.Gly1166Cys)
19g.35733082G>ACA9385711KMT2Bn.839G>A
c.6467G>A (p.Gly2156Asp)
c.4074G>A (n.4074G>A)
c.1751G>A (p.Gly584Asp)
n.1686G>A
c.1754G>A (p.Gly585Asp)
c.6075G>A
c.6533G>A (p.Gly2178Asp)
c.705-515G>A (n.705-515G>A)
c.3855G>A
c.6257G>A (p.Gly2086Asp)
c.5969G>A (p.Gly1990Asp)
c.3497G>A (p.Gly1166Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35733082G>CCA307796945KMT2Bn.839G>C
c.6467G>C (p.Gly2156Ala)
c.4074G>C (n.4074G>C)
c.1751G>C (p.Gly584Ala)
n.1686G>C
c.1754G>C (p.Gly585Ala)
c.6075G>C
c.6533G>C (p.Gly2178Ala)
c.705-515G>C (n.705-515G>C)
c.3855G>C
c.6257G>C (p.Gly2086Ala)
c.5969G>C (p.Gly1990Ala)
c.3497G>C (p.Gly1166Ala)
dbSNP
19g.35733082G=CA2333794645KMT2Bn.839G=
c.6467G= (p.Gly2156=)
c.4074G= (n.4074G=)
c.1751G= (p.Gly584=)
n.1686G=
c.1754G= (p.Gly585=)
c.6075G=
c.6533G= (p.Gly2178=)
c.705-515G= (n.705-515G=)
c.3855G=
c.6257G= (p.Gly2086=)
c.5969G= (p.Gly1990=)
c.3497G= (p.Gly1166=)
19g.35733082G>TCA405429122KMT2Bn.839G>T
c.6467G>T (p.Gly2156Val)
c.4074G>T (n.4074G>T)
c.1751G>T (p.Gly584Val)
n.1686G>T
c.1754G>T (p.Gly585Val)
c.6075G>T
c.6533G>T (p.Gly2178Val)
c.705-515G>T (n.705-515G>T)
c.3855G>T
c.6257G>T (p.Gly2086Val)
c.5969G>T (p.Gly1990Val)
c.3497G>T (p.Gly1166Val)
19g.35733083C>ACA507308428KMT2Bn.840C>A
c.6468C>A (p.Gly2156=)
c.4075C>A (n.4075C>A)
c.1752C>A (p.Gly584=)
n.1687C>A
c.1755C>A (p.Gly585=)
c.6076C>A
c.6534C>A (p.Gly2178=)
c.705-514C>A (n.705-514C>A)
c.3856C>A
c.6258C>A (p.Gly2086=)
c.5970C>A (p.Gly1990=)
c.3498C>A (p.Gly1166=)
gnomAD v4
19g.35733083C>GCA507308430KMT2Bn.840C>G
c.6468C>G (p.Gly2156=)
c.4075C>G (n.4075C>G)
c.1752C>G (p.Gly584=)
n.1687C>G
c.1755C>G (p.Gly585=)
c.6076C>G
c.6534C>G (p.Gly2178=)
c.705-514C>G (n.705-514C>G)
c.3856C>G
c.6258C>G (p.Gly2086=)
c.5970C>G (p.Gly1990=)
c.3498C>G (p.Gly1166=)
19g.35733083C>TCA507308432KMT2Bn.840C>T
c.6468C>T (p.Gly2156=)
c.4075C>T (n.4075C>T)
c.1752C>T (p.Gly584=)
n.1687C>T
c.1755C>T (p.Gly585=)
c.6076C>T
c.6534C>T (p.Gly2178=)
c.705-514C>T (n.705-514C>T)
c.3856C>T
c.6258C>T (p.Gly2086=)
c.5970C>T (p.Gly1990=)
c.3498C>T (p.Gly1166=)
gnomAD v4
19g.35733084C>ACA405429129KMT2Bn.841C>A
c.6469C>A (p.Pro2157Thr)
c.4076C>A (n.4076C>A)
c.1753C>A (p.Pro585Thr)
n.1688C>A
c.1756C>A (p.Pro586Thr)
c.6077C>A
c.6535C>A (p.Pro2179Thr)
c.705-513C>A (n.705-513C>A)
c.3857C>A
c.6259C>A (p.Pro2087Thr)
c.5971C>A (p.Pro1991Thr)
c.3499C>A (p.Pro1167Thr)
dbSNP gnomAD v4
19g.35733084C=CA2333794646KMT2Bn.841C=
c.6469C= (p.Pro2157=)
c.4076C= (n.4076C=)
c.1753C= (p.Pro585=)
n.1688C=
c.1756C= (p.Pro586=)
c.6077C=
c.6535C= (p.Pro2179=)
c.705-513C= (n.705-513C=)
c.3857C=
c.6259C= (p.Pro2087=)
c.5971C= (p.Pro1991=)
c.3499C= (p.Pro1167=)
19g.35733084C>GCA405429126KMT2Bn.841C>G
c.6469C>G (p.Pro2157Ala)
c.4076C>G (n.4076C>G)
c.1753C>G (p.Pro585Ala)
n.1688C>G
c.1756C>G (p.Pro586Ala)
c.6077C>G
c.6535C>G (p.Pro2179Ala)
c.705-513C>G (n.705-513C>G)
c.3857C>G
c.6259C>G (p.Pro2087Ala)
c.5971C>G (p.Pro1991Ala)
c.3499C>G (p.Pro1167Ala)
dbSNP
19g.35733084C>TCA9385712KMT2Bn.841C>T
c.6469C>T (p.Pro2157Ser)
c.4076C>T (n.4076C>T)
c.1753C>T (p.Pro585Ser)
n.1688C>T
c.1756C>T (p.Pro586Ser)
c.6077C>T
c.6535C>T (p.Pro2179Ser)
c.705-513C>T (n.705-513C>T)
c.3857C>T
c.6259C>T (p.Pro2087Ser)
c.5971C>T (p.Pro1991Ser)
c.3499C>T (p.Pro1167Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35733085C>ACA405429133KMT2Bn.842C>A
c.6470C>A (p.Pro2157His)
c.4077C>A (n.4077C>A)
c.1754C>A (p.Pro585His)
n.1689C>A
c.1757C>A (p.Pro586His)
c.6078C>A
c.6536C>A (p.Pro2179His)
c.705-512C>A (n.705-512C>A)
c.3858C>A
c.6260C>A (p.Pro2087His)
c.5972C>A (p.Pro1991His)
c.3500C>A (p.Pro1167His)
gnomAD v4
19g.35733085C>GCA405429138KMT2Bn.842C>G
c.6470C>G (p.Pro2157Arg)
c.4077C>G (n.4077C>G)
c.1754C>G (p.Pro585Arg)
n.1689C>G
c.1757C>G (p.Pro586Arg)
c.6078C>G
c.6536C>G (p.Pro2179Arg)
c.705-512C>G (n.705-512C>G)
c.3858C>G
c.6260C>G (p.Pro2087Arg)
c.5972C>G (p.Pro1991Arg)
c.3500C>G (p.Pro1167Arg)
gnomAD v4
19g.35733085C>TCA405429141KMT2Bn.842C>T
c.6470C>T (p.Pro2157Leu)
c.4077C>T (n.4077C>T)
c.1754C>T (p.Pro585Leu)
n.1689C>T
c.1757C>T (p.Pro586Leu)
c.6078C>T
c.6536C>T (p.Pro2179Leu)
c.705-512C>T (n.705-512C>T)
c.3858C>T
c.6260C>T (p.Pro2087Leu)
c.5972C>T (p.Pro1991Leu)
c.3500C>T (p.Pro1167Leu)
19g.35733086T>ACA507308444KMT2Bn.843T>A
c.6471T>A (p.Pro2157=)
c.4078T>A (n.4078T>A)
c.1755T>A (p.Pro585=)
n.1690T>A
c.1758T>A (p.Pro586=)
c.6079T>A
c.6537T>A (p.Pro2179=)
c.705-511T>A (n.705-511T>A)
c.3859T>A
c.6261T>A (p.Pro2087=)
c.5973T>A (p.Pro1991=)
c.3501T>A (p.Pro1167=)
19g.35733086T>CCA507308446KMT2Bn.843T>C
c.6471T>C (p.Pro2157=)
c.4078T>C (n.4078T>C)
c.1755T>C (p.Pro585=)
n.1690T>C
c.1758T>C (p.Pro586=)
c.6079T>C
c.6537T>C (p.Pro2179=)
c.705-511T>C (n.705-511T>C)
c.3859T>C
c.6261T>C (p.Pro2087=)
c.5973T>C (p.Pro1991=)
c.3501T>C (p.Pro1167=)
dbSNP
19g.35733086T>GCA9385713KMT2Bn.843T>G
c.6471T>G (p.Pro2157=)
c.4078T>G (n.4078T>G)
c.1755T>G (p.Pro585=)
n.1690T>G
c.1758T>G (p.Pro586=)
c.6079T>G
c.6537T>G (p.Pro2179=)
c.705-511T>G (n.705-511T>G)
c.3859T>G
c.6261T>G (p.Pro2087=)
c.5973T>G (p.Pro1991=)
c.3501T>G (p.Pro1167=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733086T=CA2333794647KMT2Bn.843T=
c.6471T= (p.Pro2157=)
c.4078T= (n.4078T=)
c.1755T= (p.Pro585=)
n.1690T=
c.1758T= (p.Pro586=)
c.6079T=
c.6537T= (p.Pro2179=)
c.705-511T= (n.705-511T=)
c.3859T=
c.6261T= (p.Pro2087=)
c.5973T= (p.Pro1991=)
c.3501T= (p.Pro1167=)
19g.35733087G>ACA405429147KMT2Bn.844G>A
c.6472G>A (p.Ala2158Thr)
c.4079G>A (n.4079G>A)
c.1756G>A (p.Ala586Thr)
n.1691G>A
c.1759G>A (p.Ala587Thr)
c.6080G>A
c.6538G>A (p.Ala2180Thr)
c.705-510G>A (n.705-510G>A)
c.3860G>A
c.6262G>A (p.Ala2088Thr)
c.5974G>A (p.Ala1992Thr)
c.3502G>A (p.Ala1168Thr)
ClinVar dbSNP gnomAD v4
19g.35733087G>CCA307796959KMT2Bn.844G>C
c.6472G>C (p.Ala2158Pro)
c.4079G>C (n.4079G>C)
c.1756G>C (p.Ala586Pro)
n.1691G>C
c.1759G>C (p.Ala587Pro)
c.6080G>C
c.6538G>C (p.Ala2180Pro)
c.705-510G>C (n.705-510G>C)
c.3860G>C
c.6262G>C (p.Ala2088Pro)
c.5974G>C (p.Ala1992Pro)
c.3502G>C (p.Ala1168Pro)
dbSNP COSMIC
19g.35733087G=CA2333794648KMT2Bn.844G=
c.6472G= (p.Ala2158=)
c.4079G= (n.4079G=)
c.1756G= (p.Ala586=)
n.1691G=
c.1759G= (p.Ala587=)
c.6080G=
c.6538G= (p.Ala2180=)
c.705-510G= (n.705-510G=)
c.3860G=
c.6262G= (p.Ala2088=)
c.5974G= (p.Ala1992=)
c.3502G= (p.Ala1168=)
19g.35733087G>TCA405429150KMT2Bn.844G>T
c.6472G>T (p.Ala2158Ser)
c.4079G>T (n.4079G>T)
c.1756G>T (p.Ala586Ser)
n.1691G>T
c.1759G>T (p.Ala587Ser)
c.6080G>T
c.6538G>T (p.Ala2180Ser)
c.705-510G>T (n.705-510G>T)
c.3860G>T
c.6262G>T (p.Ala2088Ser)
c.5974G>T (p.Ala1992Ser)
c.3502G>T (p.Ala1168Ser)
gnomAD v4
19g.35733088C>ACA405429154KMT2Bn.845C>A
c.6473C>A (p.Ala2158Asp)
c.4080C>A (n.4080C>A)
c.1757C>A (p.Ala586Asp)
n.1692C>A
c.1760C>A (p.Ala587Asp)
c.6081C>A
c.6539C>A (p.Ala2180Asp)
c.705-509C>A (n.705-509C>A)
c.3861C>A
c.6263C>A (p.Ala2088Asp)
c.5975C>A (p.Ala1992Asp)
c.3503C>A (p.Ala1168Asp)
19g.35733088C=CA2333794649KMT2Bn.845C=
c.6473C= (p.Ala2158=)
c.4080C= (n.4080C=)
c.1757C= (p.Ala586=)
n.1692C=
c.1760C= (p.Ala587=)
c.6081C=
c.6539C= (p.Ala2180=)
c.705-509C= (n.705-509C=)
c.3861C=
c.6263C= (p.Ala2088=)
c.5975C= (p.Ala1992=)
c.3503C= (p.Ala1168=)
19g.35733088C>GCA405429162KMT2Bn.845C>G
c.6473C>G (p.Ala2158Gly)
c.4080C>G (n.4080C>G)
c.1757C>G (p.Ala586Gly)
n.1692C>G
c.1760C>G (p.Ala587Gly)
c.6081C>G
c.6539C>G (p.Ala2180Gly)
c.705-509C>G (n.705-509C>G)
c.3861C>G
c.6263C>G (p.Ala2088Gly)
c.5975C>G (p.Ala1992Gly)
c.3503C>G (p.Ala1168Gly)
19g.35733088C>TCA307796964KMT2Bn.845C>T
c.6473C>T (p.Ala2158Val)
c.4080C>T (n.4080C>T)
c.1757C>T (p.Ala586Val)
n.1692C>T
c.1760C>T (p.Ala587Val)
c.6081C>T
c.6539C>T (p.Ala2180Val)
c.705-509C>T (n.705-509C>T)
c.3861C>T
c.6263C>T (p.Ala2088Val)
c.5975C>T (p.Ala1992Val)
c.3503C>T (p.Ala1168Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35733089C>ACA507308458KMT2Bn.846C>A
c.6474C>A (p.Ala2158=)
c.4081C>A (n.4081C>A)
c.1758C>A (p.Ala586=)
n.1693C>A
c.1761C>A (p.Ala587=)
c.6082C>A
c.6540C>A (p.Ala2180=)
c.705-508C>A (n.705-508C>A)
c.3862C>A
c.6264C>A (p.Ala2088=)
c.5976C>A (p.Ala1992=)
c.3504C>A (p.Ala1168=)
19g.35733089C=CA2333794650KMT2Bn.846C=
c.6474C= (p.Ala2158=)
c.4081C= (n.4081C=)
c.1758C= (p.Ala586=)
n.1693C=
c.1761C= (p.Ala587=)
c.6082C=
c.6540C= (p.Ala2180=)
c.705-508C= (n.705-508C=)
c.3862C=
c.6264C= (p.Ala2088=)
c.5976C= (p.Ala1992=)
c.3504C= (p.Ala1168=)
19g.35733089C>GCA307796966KMT2Bn.846C>G
c.6474C>G (p.Ala2158=)
c.4081C>G (n.4081C>G)
c.1758C>G (p.Ala586=)
n.1693C>G
c.1761C>G (p.Ala587=)
c.6082C>G
c.6540C>G (p.Ala2180=)
c.705-508C>G (n.705-508C>G)
c.3862C>G
c.6264C>G (p.Ala2088=)
c.5976C>G (p.Ala1992=)
c.3504C>G (p.Ala1168=)
dbSNP
19g.35733089C>TCA507308457KMT2Bn.846C>T
c.6474C>T (p.Ala2158=)
c.4081C>T (n.4081C>T)
c.1758C>T (p.Ala586=)
n.1693C>T
c.1761C>T (p.Ala587=)
c.6082C>T
c.6540C>T (p.Ala2180=)
c.705-508C>T (n.705-508C>T)
c.3862C>T
c.6264C>T (p.Ala2088=)
c.5976C>T (p.Ala1992=)
c.3504C>T (p.Ala1168=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35733090C>ACA405429169KMT2Bn.847C>A
c.6475C>A (p.Pro2159Thr)
c.4082C>A (n.4082C>A)
c.1759C>A (p.Pro587Thr)
n.1694C>A
c.1762C>A (p.Pro588Thr)
c.6083C>A
c.6541C>A (p.Pro2181Thr)
c.705-507C>A (n.705-507C>A)
c.3863C>A
c.6265C>A (p.Pro2089Thr)
c.5977C>A (p.Pro1993Thr)
c.3505C>A (p.Pro1169Thr)
19g.35733090C>GCA405429170KMT2Bn.847C>G
c.6475C>G (p.Pro2159Ala)
c.4082C>G (n.4082C>G)
c.1759C>G (p.Pro587Ala)
n.1694C>G
c.1762C>G (p.Pro588Ala)
c.6083C>G
c.6541C>G (p.Pro2181Ala)
c.705-507C>G (n.705-507C>G)
c.3863C>G
c.6265C>G (p.Pro2089Ala)
c.5977C>G (p.Pro1993Ala)
c.3505C>G (p.Pro1169Ala)
19g.35733090C>TCA405429172KMT2Bn.847C>T
c.6475C>T (p.Pro2159Ser)
c.4082C>T (n.4082C>T)
c.1759C>T (p.Pro587Ser)
n.1694C>T
c.1762C>T (p.Pro588Ser)
c.6083C>T
c.6541C>T (p.Pro2181Ser)
c.705-507C>T (n.705-507C>T)
c.3863C>T
c.6265C>T (p.Pro2089Ser)
c.5977C>T (p.Pro1993Ser)
c.3505C>T (p.Pro1169Ser)
19g.35733091C>ACA405429181KMT2Bn.848C>A
c.6476C>A (p.Pro2159His)
c.4083C>A (n.4083C>A)
c.1760C>A (p.Pro587His)
n.1695C>A
c.1763C>A (p.Pro588His)
c.6084C>A
c.6542C>A (p.Pro2181His)
c.705-506C>A (n.705-506C>A)
c.3864C>A
c.6266C>A (p.Pro2089His)
c.5978C>A (p.Pro1993His)
c.3506C>A (p.Pro1169His)
19g.35733091C>GCA405429179KMT2Bn.848C>G
c.6476C>G (p.Pro2159Arg)
c.4083C>G (n.4083C>G)
c.1760C>G (p.Pro587Arg)
n.1695C>G
c.1763C>G (p.Pro588Arg)
c.6084C>G
c.6542C>G (p.Pro2181Arg)
c.705-506C>G (n.705-506C>G)
c.3864C>G
c.6266C>G (p.Pro2089Arg)
c.5978C>G (p.Pro1993Arg)
c.3506C>G (p.Pro1169Arg)
19g.35733091C>TCA405429177KMT2Bn.848C>T
c.6476C>T (p.Pro2159Leu)
c.4083C>T (n.4083C>T)
c.1760C>T (p.Pro587Leu)
n.1695C>T
c.1763C>T (p.Pro588Leu)
c.6084C>T
c.6542C>T (p.Pro2181Leu)
c.705-506C>T (n.705-506C>T)
c.3864C>T
c.6266C>T (p.Pro2089Leu)
c.5978C>T (p.Pro1993Leu)
c.3506C>T (p.Pro1169Leu)
gnomAD v4
19g.35733092T>ACA507308469KMT2Bn.849T>A
c.6477T>A (p.Pro2159=)
c.4084T>A (n.4084T>A)
c.1761T>A (p.Pro587=)
n.1696T>A
c.1764T>A (p.Pro588=)
c.6085T>A
c.6543T>A (p.Pro2181=)
c.705-505T>A (n.705-505T>A)
c.3865T>A
c.6267T>A (p.Pro2089=)
c.5979T>A (p.Pro1993=)
c.3507T>A (p.Pro1169=)
dbSNP
19g.35733092T>CCA507308471KMT2Bn.849T>C
c.6477T>C (p.Pro2159=)
c.4084T>C (n.4084T>C)
c.1761T>C (p.Pro587=)
n.1696T>C
c.1764T>C (p.Pro588=)
c.6085T>C
c.6543T>C (p.Pro2181=)
c.705-505T>C (n.705-505T>C)
c.3865T>C
c.6267T>C (p.Pro2089=)
c.5979T>C (p.Pro1993=)
c.3507T>C (p.Pro1169=)
19g.35733092T>GCA507308472KMT2Bn.849T>G
c.6477T>G (p.Pro2159=)
c.4084T>G (n.4084T>G)
c.1761T>G (p.Pro587=)
n.1696T>G
c.1764T>G (p.Pro588=)
c.6085T>G
c.6543T>G (p.Pro2181=)
c.705-505T>G (n.705-505T>G)
c.3865T>G
c.6267T>G (p.Pro2089=)
c.5979T>G (p.Pro1993=)
c.3507T>G (p.Pro1169=)
dbSNP gnomAD v3 gnomAD v4
19g.35733092T=CA2333794651KMT2Bn.849T=
c.6477T= (p.Pro2159=)
c.4084T= (n.4084T=)
c.1761T= (p.Pro587=)
n.1696T=
c.1764T= (p.Pro588=)
c.6085T=
c.6543T= (p.Pro2181=)
c.705-505T= (n.705-505T=)
c.3865T=
c.6267T= (p.Pro2089=)
c.5979T= (p.Pro1993=)
c.3507T= (p.Pro1169=)
19g.35733093G>ACA405429191KMT2Bn.850G>A
c.6478G>A (p.Glu2160Lys)
c.4085G>A (n.4085G>A)
c.1762G>A (p.Glu588Lys)
n.1697G>A
c.1765G>A (p.Glu589Lys)
c.6086G>A
c.6544G>A (p.Glu2182Lys)
c.705-504G>A (n.705-504G>A)
c.3866G>A
c.6268G>A (p.Glu2090Lys)
c.5980G>A (p.Glu1994Lys)
c.3508G>A (p.Glu1170Lys)
19g.35733093G>CCA405429186KMT2Bn.850G>C
c.6478G>C (p.Glu2160Gln)
c.4085G>C (n.4085G>C)
c.1762G>C (p.Glu588Gln)
n.1697G>C
c.1765G>C (p.Glu589Gln)
c.6086G>C
c.6544G>C (p.Glu2182Gln)
c.705-504G>C (n.705-504G>C)
c.3866G>C
c.6268G>C (p.Glu2090Gln)
c.5980G>C (p.Glu1994Gln)
c.3508G>C (p.Glu1170Gln)
19g.35733093G>TCA405429188KMT2Bn.850G>T
c.6478G>T (p.Glu2160Ter)
c.4085G>T (n.4085G>T)
c.1762G>T (p.Glu588Ter)
n.1697G>T
c.1765G>T (p.Glu589Ter)
c.6086G>T
c.6544G>T (p.Glu2182Ter)
c.705-504G>T (n.705-504G>T)
c.3866G>T
c.6268G>T (p.Glu2090Ter)
c.5980G>T (p.Glu1994Ter)
c.3508G>T (p.Glu1170Ter)
19g.35733094A>CCA405429193KMT2Bn.851A>C
c.6479A>C (p.Glu2160Ala)
c.4086A>C (n.4086A>C)
c.1763A>C (p.Glu588Ala)
n.1698A>C
c.1766A>C (p.Glu589Ala)
c.6087A>C
c.6545A>C (p.Glu2182Ala)
c.705-503A>C (n.705-503A>C)
c.3867A>C
c.6269A>C (p.Glu2090Ala)
c.5981A>C (p.Glu1994Ala)
c.3509A>C (p.Glu1170Ala)
gnomAD v4
19g.35733094A>GCA405429196KMT2Bn.851A>G
c.6479A>G (p.Glu2160Gly)
c.4086A>G (n.4086A>G)
c.1763A>G (p.Glu588Gly)
n.1698A>G
c.1766A>G (p.Glu589Gly)
c.6087A>G
c.6545A>G (p.Glu2182Gly)
c.705-503A>G (n.705-503A>G)
c.3867A>G
c.6269A>G (p.Glu2090Gly)
c.5981A>G (p.Glu1994Gly)
c.3509A>G (p.Glu1170Gly)
19g.35733094A>TCA405429199KMT2Bn.851A>T
c.6479A>T (p.Glu2160Val)
c.4086A>T (n.4086A>T)
c.1763A>T (p.Glu588Val)
n.1698A>T
c.1766A>T (p.Glu589Val)
c.6087A>T
c.6545A>T (p.Glu2182Val)
c.705-503A>T (n.705-503A>T)
c.3867A>T
c.6269A>T (p.Glu2090Val)
c.5981A>T (p.Glu1994Val)
c.3509A>T (p.Glu1170Val)
19g.35733095G>ACA507308484KMT2Bn.852G>A
c.6480G>A (p.Glu2160=)
c.4087G>A (n.4087G>A)
c.1764G>A (p.Glu588=)
n.1699G>A
c.1767G>A (p.Glu589=)
c.6088G>A
c.6546G>A (p.Glu2182=)
c.705-502G>A (n.705-502G>A)
c.3868G>A
c.6270G>A (p.Glu2090=)
c.5982G>A (p.Glu1994=)
c.3510G>A (p.Glu1170=)
19g.35733095G>CCA9385715KMT2Bn.852G>C
c.6480G>C (p.Glu2160Asp)
c.4087G>C (n.4087G>C)
c.1764G>C (p.Glu588Asp)
n.1699G>C
c.1767G>C (p.Glu589Asp)
c.6088G>C
c.6546G>C (p.Glu2182Asp)
c.705-502G>C (n.705-502G>C)
c.3868G>C
c.6270G>C (p.Glu2090Asp)
c.5982G>C (p.Glu1994Asp)
c.3510G>C (p.Glu1170Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733095G=CA2333794652KMT2Bn.852G=
c.6480G= (p.Glu2160=)
c.4087G= (n.4087G=)
c.1764G= (p.Glu588=)
n.1699G=
c.1767G= (p.Glu589=)
c.6088G=
c.6546G= (p.Glu2182=)
c.705-502G= (n.705-502G=)
c.3868G=
c.6270G= (p.Glu2090=)
c.5982G= (p.Glu1994=)
c.3510G= (p.Glu1170=)
19g.35733095G>TCA405429206KMT2Bn.852G>T
c.6480G>T (p.Glu2160Asp)
c.4087G>T (n.4087G>T)
c.1764G>T (p.Glu588Asp)
n.1699G>T
c.1767G>T (p.Glu589Asp)
c.6088G>T
c.6546G>T (p.Glu2182Asp)
c.705-502G>T (n.705-502G>T)
c.3868G>T
c.6270G>T (p.Glu2090Asp)
c.5982G>T (p.Glu1994Asp)
c.3510G>T (p.Glu1170Asp)
19g.35733096C>ACA9385716KMT2Bn.853C>A
c.6481C>A (p.Pro2161Thr)
c.4088C>A (n.4088C>A)
c.1765C>A (p.Pro589Thr)
n.1700C>A
c.1768C>A (p.Pro590Thr)
c.6089C>A
c.6547C>A (p.Pro2183Thr)
c.705-501C>A (n.705-501C>A)
c.3869C>A
c.6271C>A (p.Pro2091Thr)
c.5983C>A (p.Pro1995Thr)
c.3511C>A (p.Pro1171Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733096C=CA2333794653KMT2Bn.853C=
c.6481C= (p.Pro2161=)
c.4088C= (n.4088C=)
c.1765C= (p.Pro589=)
n.1700C=
c.1768C= (p.Pro590=)
c.6089C=
c.6547C= (p.Pro2183=)
c.705-501C= (n.705-501C=)
c.3869C=
c.6271C= (p.Pro2091=)
c.5983C= (p.Pro1995=)
c.3511C= (p.Pro1171=)
19g.35733096C>GCA405429216KMT2Bn.853C>G
c.6481C>G (p.Pro2161Ala)
c.4088C>G (n.4088C>G)
c.1765C>G (p.Pro589Ala)
n.1700C>G
c.1768C>G (p.Pro590Ala)
c.6089C>G
c.6547C>G (p.Pro2183Ala)
c.705-501C>G (n.705-501C>G)
c.3869C>G
c.6271C>G (p.Pro2091Ala)
c.5983C>G (p.Pro1995Ala)
c.3511C>G (p.Pro1171Ala)
19g.35733096C>TCA405429214KMT2Bn.853C>T
c.6481C>T (p.Pro2161Ser)
c.4088C>T (n.4088C>T)
c.1765C>T (p.Pro589Ser)
n.1700C>T
c.1768C>T (p.Pro590Ser)
c.6089C>T
c.6547C>T (p.Pro2183Ser)
c.705-501C>T (n.705-501C>T)
c.3869C>T
c.6271C>T (p.Pro2091Ser)
c.5983C>T (p.Pro1995Ser)
c.3511C>T (p.Pro1171Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35733101dupCA9385714KMT2Bn.858dup
c.6486dup (p.Lys2163GlnfsTer25)
c.4093dup (n.4093dup)
c.1770dup (p.Lys591GlnfsTer25)
n.1705dup
c.1773dup (p.Lys592GlnfsTer25)
c.6094dup
c.6552dup (p.Lys2185GlnfsTer25)
c.705-496dup (n.705-496dup)
c.3874dup
c.6276dup (p.Lys2093GlnfsTer25)
c.5988dup (p.Lys1997GlnfsTer25)
c.3516dup (p.Lys1173GlnfsTer25)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733101delCA2584575164KMT2Bn.858del
c.6486del (p.Lys2163AsnfsTer18)
c.4093del (n.4093del)
c.1770del (p.Lys591AsnfsTer18)
n.1705del
c.1773del (p.Lys592AsnfsTer18)
c.6094del
c.6552del (p.Lys2185AsnfsTer18)
c.705-496del (n.705-496del)
c.3874del
c.6276del (p.Lys2093AsnfsTer18)
c.5988del (p.Lys1997AsnfsTer18)
c.3516del (p.Lys1173AsnfsTer18)
gnomAD v4
19g.35733097C>ACA307796996KMT2Bn.854C>A
c.6482C>A (p.Pro2161His)
c.4089C>A (n.4089C>A)
c.1766C>A (p.Pro589His)
n.1701C>A
c.1769C>A (p.Pro590His)
c.6090C>A
c.6548C>A (p.Pro2183His)
c.705-500C>A (n.705-500C>A)
c.3870C>A
c.6272C>A (p.Pro2091His)
c.5984C>A (p.Pro1995His)
c.3512C>A (p.Pro1171His)
dbSNP
19g.35733097C=CA2333794654KMT2Bn.854C=
c.6482C= (p.Pro2161=)
c.4089C= (n.4089C=)
c.1766C= (p.Pro589=)
n.1701C=
c.1769C= (p.Pro590=)
c.6090C=
c.6548C= (p.Pro2183=)
c.705-500C= (n.705-500C=)
c.3870C=
c.6272C= (p.Pro2091=)
c.5984C= (p.Pro1995=)
c.3512C= (p.Pro1171=)
19g.35733097C>GCA405429225KMT2Bn.854C>G
c.6482C>G (p.Pro2161Arg)
c.4089C>G (n.4089C>G)
c.1766C>G (p.Pro589Arg)
n.1701C>G
c.1769C>G (p.Pro590Arg)
c.6090C>G
c.6548C>G (p.Pro2183Arg)
c.705-500C>G (n.705-500C>G)
c.3870C>G
c.6272C>G (p.Pro2091Arg)
c.5984C>G (p.Pro1995Arg)
c.3512C>G (p.Pro1171Arg)
19g.35733097C>TCA405429227KMT2Bn.854C>T
c.6482C>T (p.Pro2161Leu)
c.4089C>T (n.4089C>T)
c.1766C>T (p.Pro589Leu)
n.1701C>T
c.1769C>T (p.Pro590Leu)
c.6090C>T
c.6548C>T (p.Pro2183Leu)
c.705-500C>T (n.705-500C>T)
c.3870C>T
c.6272C>T (p.Pro2091Leu)
c.5984C>T (p.Pro1995Leu)
c.3512C>T (p.Pro1171Leu)
19g.35733098C>ACA507308497KMT2Bn.855C>A
c.6483C>A (p.Pro2161=)
c.4090C>A (n.4090C>A)
c.1767C>A (p.Pro589=)
n.1702C>A
c.1770C>A (p.Pro590=)
c.6091C>A
c.6549C>A (p.Pro2183=)
c.705-499C>A (n.705-499C>A)
c.3871C>A
c.6273C>A (p.Pro2091=)
c.5985C>A (p.Pro1995=)
c.3513C>A (p.Pro1171=)
gnomAD v4
19g.35733098C=CA2333794655KMT2Bn.855C=
c.6483C= (p.Pro2161=)
c.4090C= (n.4090C=)
c.1767C= (p.Pro589=)
n.1702C=
c.1770C= (p.Pro590=)
c.6091C=
c.6549C= (p.Pro2183=)
c.705-499C= (n.705-499C=)
c.3871C=
c.6273C= (p.Pro2091=)
c.5985C= (p.Pro1995=)
c.3513C= (p.Pro1171=)
19g.35733098C>GCA507308498KMT2Bn.855C>G
c.6483C>G (p.Pro2161=)
c.4090C>G (n.4090C>G)
c.1767C>G (p.Pro589=)
n.1702C>G
c.1770C>G (p.Pro590=)
c.6091C>G
c.6549C>G (p.Pro2183=)
c.705-499C>G (n.705-499C>G)
c.3871C>G
c.6273C>G (p.Pro2091=)
c.5985C>G (p.Pro1995=)
c.3513C>G (p.Pro1171=)
19g.35733098C>TCA507308500KMT2Bn.855C>T
c.6483C>T (p.Pro2161=)
c.4090C>T (n.4090C>T)
c.1767C>T (p.Pro589=)
n.1702C>T
c.1770C>T (p.Pro590=)
c.6091C>T
c.6549C>T (p.Pro2183=)
c.705-499C>T (n.705-499C>T)
c.3871C>T
c.6273C>T (p.Pro2091=)
c.5985C>T (p.Pro1995=)
c.3513C>T (p.Pro1171=)
dbSNP gnomAD v2 gnomAD v4
19g.35733099C>ACA405429230KMT2Bn.856C>A
c.6484C>A (p.Pro2162Thr)
c.4091C>A (n.4091C>A)
c.1768C>A (p.Pro590Thr)
n.1703C>A
c.1771C>A (p.Pro591Thr)
c.6092C>A
c.6550C>A (p.Pro2184Thr)
c.705-498C>A (n.705-498C>A)
c.3872C>A
c.6274C>A (p.Pro2092Thr)
c.5986C>A (p.Pro1996Thr)
c.3514C>A (p.Pro1172Thr)
19g.35733099C=CA2333794656KMT2Bn.856C=
c.6484C= (p.Pro2162=)
c.4091C= (n.4091C=)
c.1768C= (p.Pro590=)
n.1703C=
c.1771C= (p.Pro591=)
c.6092C=
c.6550C= (p.Pro2184=)
c.705-498C= (n.705-498C=)
c.3872C=
c.6274C= (p.Pro2092=)
c.5986C= (p.Pro1996=)
c.3514C= (p.Pro1172=)
19g.35733099C>GCA405429236KMT2Bn.856C>G
c.6484C>G (p.Pro2162Ala)
c.4091C>G (n.4091C>G)
c.1768C>G (p.Pro590Ala)
n.1703C>G
c.1771C>G (p.Pro591Ala)
c.6092C>G
c.6550C>G (p.Pro2184Ala)
c.705-498C>G (n.705-498C>G)
c.3872C>G
c.6274C>G (p.Pro2092Ala)
c.5986C>G (p.Pro1996Ala)
c.3514C>G (p.Pro1172Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35733099C>TCA405429233KMT2Bn.856C>T
c.6484C>T (p.Pro2162Ser)
c.4091C>T (n.4091C>T)
c.1768C>T (p.Pro590Ser)
n.1703C>T
c.1771C>T (p.Pro591Ser)
c.6092C>T
c.6550C>T (p.Pro2184Ser)
c.705-498C>T (n.705-498C>T)
c.3872C>T
c.6274C>T (p.Pro2092Ser)
c.5986C>T (p.Pro1996Ser)
c.3514C>T (p.Pro1172Ser)
gnomAD v4
19g.35733100C>ACA405429240KMT2Bn.857C>A
c.6485C>A (p.Pro2162His)
c.4092C>A (n.4092C>A)
c.1769C>A (p.Pro590His)
n.1704C>A
c.1772C>A (p.Pro591His)
c.6093C>A
c.6551C>A (p.Pro2184His)
c.705-497C>A (n.705-497C>A)
c.3873C>A
c.6275C>A (p.Pro2092His)
c.5987C>A (p.Pro1996His)
c.3515C>A (p.Pro1172His)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35733100C=CA2333794657KMT2Bn.857C=
c.6485C= (p.Pro2162=)
c.4092C= (n.4092C=)
c.1769C= (p.Pro590=)
n.1704C=
c.1772C= (p.Pro591=)
c.6093C=
c.6551C= (p.Pro2184=)
c.705-497C= (n.705-497C=)
c.3873C=
c.6275C= (p.Pro2092=)
c.5987C= (p.Pro1996=)
c.3515C= (p.Pro1172=)
19g.35733100C>GCA9385717KMT2Bn.857C>G
c.6485C>G (p.Pro2162Arg)
c.4092C>G (n.4092C>G)
c.1769C>G (p.Pro590Arg)
n.1704C>G
c.1772C>G (p.Pro591Arg)
c.6093C>G
c.6551C>G (p.Pro2184Arg)
c.705-497C>G (n.705-497C>G)
c.3873C>G
c.6275C>G (p.Pro2092Arg)
c.5987C>G (p.Pro1996Arg)
c.3515C>G (p.Pro1172Arg)
dbSNP ExAC gnomAD v3 gnomAD v4
19g.35733100C>TCA405429245KMT2Bn.857C>T
c.6485C>T (p.Pro2162Leu)
c.4092C>T (n.4092C>T)
c.1769C>T (p.Pro590Leu)
n.1704C>T
c.1772C>T (p.Pro591Leu)
c.6093C>T
c.6551C>T (p.Pro2184Leu)
c.705-497C>T (n.705-497C>T)
c.3873C>T
c.6275C>T (p.Pro2092Leu)
c.5987C>T (p.Pro1996Leu)
c.3515C>T (p.Pro1172Leu)
19g.35733101C>ACA307797012KMT2Bn.858C>A
c.6486C>A (p.Pro2162=)
c.4093C>A (n.4093C>A)
c.1770C>A (p.Pro590=)
n.1705C>A
c.1773C>A (p.Pro591=)
c.6094C>A
c.6552C>A (p.Pro2184=)
c.705-496C>A (n.705-496C>A)
c.3874C>A
c.6276C>A (p.Pro2092=)
c.5988C>A (p.Pro1996=)
c.3516C>A (p.Pro1172=)
dbSNP gnomAD v2 gnomAD v4
19g.35733101C=CA2333794658KMT2Bn.858C=
c.6486C= (p.Pro2162=)
c.4093C= (n.4093C=)
c.1770C= (p.Pro590=)
n.1705C=
c.1773C= (p.Pro591=)
c.6094C=
c.6552C= (p.Pro2184=)
c.705-496C= (n.705-496C=)
c.3874C=
c.6276C= (p.Pro2092=)
c.5988C= (p.Pro1996=)
c.3516C= (p.Pro1172=)
19g.35733101C>GCA507308503KMT2Bn.858C>G
c.6486C>G (p.Pro2162=)
c.4093C>G (n.4093C>G)
c.1770C>G (p.Pro590=)
n.1705C>G
c.1773C>G (p.Pro591=)
c.6094C>G
c.6552C>G (p.Pro2184=)
c.705-496C>G (n.705-496C>G)
c.3874C>G
c.6276C>G (p.Pro2092=)
c.5988C>G (p.Pro1996=)
c.3516C>G (p.Pro1172=)
19g.35733101C>TCA507308509KMT2Bn.858C>T
c.6486C>T (p.Pro2162=)
c.4093C>T (n.4093C>T)
c.1770C>T (p.Pro590=)
n.1705C>T
c.1773C>T (p.Pro591=)
c.6094C>T
c.6552C>T (p.Pro2184=)
c.705-496C>T (n.705-496C>T)
c.3874C>T
c.6276C>T (p.Pro2092=)
c.5988C>T (p.Pro1996=)
c.3516C>T (p.Pro1172=)
19g.35733101_35733104delinsCAAACA2333794659KMT2Bn.858_861delinsCAAA
c.6486_6489delinsCAAA (p.Pro2162=)
c.4093_4096delinsCAAA (n.4093_4096delinsCAAA)
c.1770_1773delinsCAAA (p.Pro590=)
n.1705_1708delinsCAAA
c.1773_1776delinsCAAA (p.Pro591=)
c.6094_6097delinsCAAA
c.6552_6555delinsCAAA (p.Pro2184=)
c.705-496_705-493delinsCAAA (n.705-496_705-493delinsCAAA)
c.3874_3877delinsCAAA
c.6276_6279delinsCAAA (p.Pro2092=)
c.5988_5991delinsCAAA (p.Pro1996=)
c.3516_3519delinsCAAA (p.Pro1172=)
19g.35733102A>CCA405429248KMT2Bn.859A>C
c.6487A>C (p.Lys2163Gln)
c.4094A>C (n.4094A>C)
c.1771A>C (p.Lys591Gln)
n.1706A>C
c.1774A>C (p.Lys592Gln)
c.6095A>C
c.6553A>C (p.Lys2185Gln)
c.705-495A>C (n.705-495A>C)
c.3875A>C
c.6277A>C (p.Lys2093Gln)
c.5989A>C (p.Lys1997Gln)
c.3517A>C (p.Lys1173Gln)
19g.35733102A>GCA405429249KMT2Bn.859A>G
c.6487A>G (p.Lys2163Glu)
c.4094A>G (n.4094A>G)
c.1771A>G (p.Lys591Glu)
n.1706A>G
c.1774A>G (p.Lys592Glu)
c.6095A>G
c.6553A>G (p.Lys2185Glu)
c.705-495A>G (n.705-495A>G)
c.3875A>G
c.6277A>G (p.Lys2093Glu)
c.5989A>G (p.Lys1997Glu)
c.3517A>G (p.Lys1173Glu)
19g.35733102A>TCA405429252KMT2Bn.859A>T
c.6487A>T (p.Lys2163Ter)
c.4094A>T (n.4094A>T)
c.1771A>T (p.Lys591Ter)
n.1706A>T
c.1774A>T (p.Lys592Ter)
c.6095A>T
c.6553A>T (p.Lys2185Ter)
c.705-495A>T (n.705-495A>T)
c.3875A>T
c.6277A>T (p.Lys2093Ter)
c.5989A>T (p.Lys1997Ter)
c.3517A>T (p.Lys1173Ter)
19g.35733102_35733104delCA507308512KMT2Bn.859_861del
c.6487_6489del (p.Lys2163del)
c.4094_4096del (n.4094_4096del)
c.1771_1773del (p.Lys591del)
n.1706_1708del
c.1774_1776del (p.Lys592del)
c.6095_6097del
c.6553_6555del (p.Lys2185del)
c.705-495_705-493del (n.705-495_705-493del)
c.3875_3877del
c.6277_6279del (p.Lys2093del)
c.5989_5991del (p.Lys1997del)
c.3517_3519del (p.Lys1173del)
dbSNP
19g.35733103A=CA2333794660KMT2Bn.860A=
c.6488A= (p.Lys2163=)
c.4095A= (n.4095A=)
c.1772A= (p.Lys591=)
n.1707A=
c.1775A= (p.Lys592=)
c.6096A=
c.6554A= (p.Lys2185=)
c.705-494A= (n.705-494A=)
c.3876A=
c.6278A= (p.Lys2093=)
c.5990A= (p.Lys1997=)
c.3518A= (p.Lys1173=)
19g.35733103A>CCA405429256KMT2Bn.860A>C
c.6488A>C (p.Lys2163Thr)
c.4095A>C (n.4095A>C)
c.1772A>C (p.Lys591Thr)
n.1707A>C
c.1775A>C (p.Lys592Thr)
c.6096A>C
c.6554A>C (p.Lys2185Thr)
c.705-494A>C (n.705-494A>C)
c.3876A>C
c.6278A>C (p.Lys2093Thr)
c.5990A>C (p.Lys1997Thr)
c.3518A>C (p.Lys1173Thr)
dbSNP gnomAD v2 gnomAD v4
19g.35733103A>GCA405429257KMT2Bn.860A>G
c.6488A>G (p.Lys2163Arg)
c.4095A>G (n.4095A>G)
c.1772A>G (p.Lys591Arg)
n.1707A>G
c.1775A>G (p.Lys592Arg)
c.6096A>G
c.6554A>G (p.Lys2185Arg)
c.705-494A>G (n.705-494A>G)
c.3876A>G
c.6278A>G (p.Lys2093Arg)
c.5990A>G (p.Lys1997Arg)
c.3518A>G (p.Lys1173Arg)
19g.35733103A>TCA405429260KMT2Bn.860A>T
c.6488A>T (p.Lys2163Ile)
c.4095A>T (n.4095A>T)
c.1772A>T (p.Lys591Ile)
n.1707A>T
c.1775A>T (p.Lys592Ile)
c.6096A>T
c.6554A>T (p.Lys2185Ile)
c.705-494A>T (n.705-494A>T)
c.3876A>T
c.6278A>T (p.Lys2093Ile)
c.5990A>T (p.Lys1997Ile)
c.3518A>T (p.Lys1173Ile)
19g.35733103_35733105delCA405429263KMT2Bn.860_862del
c.6488_6490del (p.Lys2163_Pro2164delinsThr)
c.4095_4097del (n.4095_4097del)
c.1772_1774del (p.Lys591_Pro592delinsThr)
n.1707_1709del
c.1775_1777del (p.Lys592_Pro593delinsThr)
c.6096_6098del
c.6554_6556del (p.Lys2185_Pro2186delinsThr)
c.705-494_705-492del (n.705-494_705-492del)
c.3876_3878del
c.6278_6280del (p.Lys2093_Pro2094delinsThr)
c.5990_5992del (p.Lys1997_Pro1998delinsThr)
c.3518_3520del (p.Lys1173_Pro1174delinsThr)
19g.35733104A=CA2333794661KMT2Bn.861A=
c.6489A= (p.Lys2163=)
c.4096A= (n.4096A=)
c.1773A= (p.Lys591=)
n.1708A=
c.1776A= (p.Lys592=)
c.6097A=
c.6555A= (p.Lys2185=)
c.705-493A= (n.705-493A=)
c.3877A=
c.6279A= (p.Lys2093=)
c.5991A= (p.Lys1997=)
c.3519A= (p.Lys1173=)
19g.35733104A>CCA9385719KMT2Bn.861A>C
c.6489A>C (p.Lys2163Asn)
c.4096A>C (n.4096A>C)
c.1773A>C (p.Lys591Asn)
n.1708A>C
c.1776A>C (p.Lys592Asn)
c.6097A>C
c.6555A>C (p.Lys2185Asn)
c.705-493A>C (n.705-493A>C)
c.3877A>C
c.6279A>C (p.Lys2093Asn)
c.5991A>C (p.Lys1997Asn)
c.3519A>C (p.Lys1173Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733104A>GCA507308519KMT2Bn.861A>G
c.6489A>G (p.Lys2163=)
c.4096A>G (n.4096A>G)
c.1773A>G (p.Lys591=)
n.1708A>G
c.1776A>G (p.Lys592=)
c.6097A>G
c.6555A>G (p.Lys2185=)
c.705-493A>G (n.705-493A>G)
c.3877A>G
c.6279A>G (p.Lys2093=)
c.5991A>G (p.Lys1997=)
c.3519A>G (p.Lys1173=)
19g.35733104A>TCA405429268KMT2Bn.861A>T
c.6489A>T (p.Lys2163Asn)
c.4096A>T (n.4096A>T)
c.1773A>T (p.Lys591Asn)
n.1708A>T
c.1776A>T (p.Lys592Asn)
c.6097A>T
c.6555A>T (p.Lys2185Asn)
c.705-493A>T (n.705-493A>T)
c.3877A>T
c.6279A>T (p.Lys2093Asn)
c.5991A>T (p.Lys1997Asn)
c.3519A>T (p.Lys1173Asn)
19g.35733104_35733105insACCA307797021KMT2Bn.861_862insAC
c.6489_6490insAC (p.Pro2164ThrfsTer18)
c.4096_4097insAC (n.4096_4097insAC)
c.1773_1774insAC (p.Pro592ThrfsTer18)
n.1708_1709insAC
c.1776_1777insAC (p.Pro593ThrfsTer18)
c.6097_6098insAC
c.6555_6556insAC (p.Pro2186ThrfsTer18)
c.705-493_705-492insAC (n.705-493_705-492insAC)
c.3877_3878insAC
c.6279_6280insAC (p.Pro2094ThrfsTer18)
c.5991_5992insAC (p.Pro1998ThrfsTer18)
c.3519_3520insAC (p.Pro1174ThrfsTer18)
dbSNP
19g.35733105C>ACA405429279KMT2Bn.862C>A
c.6490C>A (p.Pro2164Thr)
c.4097C>A (n.4097C>A)
c.1774C>A (p.Pro592Thr)
n.1709C>A
c.1777C>A (p.Pro593Thr)
c.6098C>A
c.6556C>A (p.Pro2186Thr)
c.705-492C>A (n.705-492C>A)
c.3878C>A
c.6280C>A (p.Pro2094Thr)
c.5992C>A (p.Pro1998Thr)
c.3520C>A (p.Pro1174Thr)
gnomAD v4
19g.35733105C=CA2333794662KMT2Bn.862C=
c.6490C= (p.Pro2164=)
c.4097C= (n.4097C=)
c.1774C= (p.Pro592=)
n.1709C=
c.1777C= (p.Pro593=)
c.6098C=
c.6556C= (p.Pro2186=)
c.705-492C= (n.705-492C=)
c.3878C=
c.6280C= (p.Pro2094=)
c.5992C= (p.Pro1998=)
c.3520C= (p.Pro1174=)
19g.35733105C>GCA405429273KMT2Bn.862C>G
c.6490C>G (p.Pro2164Ala)
c.4097C>G (n.4097C>G)
c.1774C>G (p.Pro592Ala)
n.1709C>G
c.1777C>G (p.Pro593Ala)
c.6098C>G
c.6556C>G (p.Pro2186Ala)
c.705-492C>G (n.705-492C>G)
c.3878C>G
c.6280C>G (p.Pro2094Ala)
c.5992C>G (p.Pro1998Ala)
c.3520C>G (p.Pro1174Ala)
ClinVar dbSNP gnomAD v4
19g.35733105C>TCA405429275KMT2Bn.862C>T
c.6490C>T (p.Pro2164Ser)
c.4097C>T (n.4097C>T)
c.1774C>T (p.Pro592Ser)
n.1709C>T
c.1777C>T (p.Pro593Ser)
c.6098C>T
c.6556C>T (p.Pro2186Ser)
c.705-492C>T (n.705-492C>T)
c.3878C>T
c.6280C>T (p.Pro2094Ser)
c.5992C>T (p.Pro1998Ser)
c.3520C>T (p.Pro1174Ser)
dbSNP gnomAD v2 gnomAD v4
19g.35733107dupCA9385718KMT2Bn.864dup
c.6492dup (p.Ala2165ArgfsTer23)
c.4099dup (n.4099dup)
c.1776dup (p.Ala593ArgfsTer23)
n.1711dup
c.1779dup (p.Ala594ArgfsTer23)
c.6100dup
c.6558dup (p.Ala2187ArgfsTer23)
c.705-490dup (n.705-490dup)
c.3880dup
c.6282dup (p.Ala2095ArgfsTer23)
c.5994dup (p.Ala1999ArgfsTer23)
c.3522dup (p.Ala1175ArgfsTer23)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35733106C>ACA405429282KMT2Bn.863C>A
c.6491C>A (p.Pro2164His)
c.4098C>A (n.4098C>A)
c.1775C>A (p.Pro592His)
n.1710C>A
c.1778C>A (p.Pro593His)
c.6099C>A
c.6557C>A (p.Pro2186His)
c.705-491C>A (n.705-491C>A)
c.3879C>A
c.6281C>A (p.Pro2094His)
c.5993C>A (p.Pro1998His)
c.3521C>A (p.Pro1174His)
gnomAD v4
19g.35733106C=CA2333794663KMT2Bn.863C=
c.6491C= (p.Pro2164=)
c.4098C= (n.4098C=)
c.1775C= (p.Pro592=)
n.1710C=
c.1778C= (p.Pro593=)
c.6099C=
c.6557C= (p.Pro2186=)
c.705-491C= (n.705-491C=)
c.3879C=
c.6281C= (p.Pro2094=)
c.5993C= (p.Pro1998=)
c.3521C= (p.Pro1174=)
19g.35733106C>GCA405429284KMT2Bn.863C>G
c.6491C>G (p.Pro2164Arg)
c.4098C>G (n.4098C>G)
c.1775C>G (p.Pro592Arg)
n.1710C>G
c.1778C>G (p.Pro593Arg)
c.6099C>G
c.6557C>G (p.Pro2186Arg)
c.705-491C>G (n.705-491C>G)
c.3879C>G
c.6281C>G (p.Pro2094Arg)
c.5993C>G (p.Pro1998Arg)
c.3521C>G (p.Pro1174Arg)
19g.35733106C>TCA405429285KMT2Bn.863C>T
c.6491C>T (p.Pro2164Leu)
c.4098C>T (n.4098C>T)
c.1775C>T (p.Pro592Leu)
n.1710C>T
c.1778C>T (p.Pro593Leu)
c.6099C>T
c.6557C>T (p.Pro2186Leu)
c.705-491C>T (n.705-491C>T)
c.3879C>T
c.6281C>T (p.Pro2094Leu)
c.5993C>T (p.Pro1998Leu)
c.3521C>T (p.Pro1174Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35733107C>ACA507308544KMT2Bn.864C>A
c.6492C>A (p.Pro2164=)
c.4099C>A (n.4099C>A)
c.1776C>A (p.Pro592=)
n.1711C>A
c.1779C>A (p.Pro593=)
c.6100C>A
c.6558C>A (p.Pro2186=)
c.705-490C>A (n.705-490C>A)
c.3880C>A
c.6282C>A (p.Pro2094=)
c.5994C>A (p.Pro1998=)
c.3522C>A (p.Pro1174=)
19g.35733107C=CA2333794664KMT2Bn.864C=
c.6492C= (p.Pro2164=)
c.4099C= (n.4099C=)
c.1776C= (p.Pro592=)
n.1711C=
c.1779C= (p.Pro593=)
c.6100C=
c.6558C= (p.Pro2186=)
c.705-490C= (n.705-490C=)
c.3880C=
c.6282C= (p.Pro2094=)
c.5994C= (p.Pro1998=)
c.3522C= (p.Pro1174=)
19g.35733107C>GCA507308545KMT2Bn.864C>G
c.6492C>G (p.Pro2164=)
c.4099C>G (n.4099C>G)
c.1776C>G (p.Pro592=)
n.1711C>G
c.1779C>G (p.Pro593=)
c.6100C>G
c.6558C>G (p.Pro2186=)
c.705-490C>G (n.705-490C>G)
c.3880C>G
c.6282C>G (p.Pro2094=)
c.5994C>G (p.Pro1998=)
c.3522C>G (p.Pro1174=)
19g.35733107C>TCA9385720KMT2Bn.864C>T
c.6492C>T (p.Pro2164=)
c.4099C>T (n.4099C>T)
c.1776C>T (p.Pro592=)
n.1711C>T
c.1779C>T (p.Pro593=)
c.6100C>T
c.6558C>T (p.Pro2186=)
c.705-490C>T (n.705-490C>T)
c.3880C>T
c.6282C>T (p.Pro2094=)
c.5994C>T (p.Pro1998=)
c.3522C>T (p.Pro1174=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733108G>ACA9385721KMT2Bn.865G>A
c.6493G>A (p.Ala2165Thr)
c.4100G>A (n.4100G>A)
c.1777G>A (p.Ala593Thr)
n.1712G>A
c.1780G>A (p.Ala594Thr)
c.6101G>A
c.6559G>A (p.Ala2187Thr)
c.705-489G>A (n.705-489G>A)
c.3881G>A
c.6283G>A (p.Ala2095Thr)
c.5995G>A (p.Ala1999Thr)
c.3523G>A (p.Ala1175Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733108G>CCA405429291KMT2Bn.865G>C
c.6493G>C (p.Ala2165Pro)
c.4100G>C (n.4100G>C)
c.1777G>C (p.Ala593Pro)
n.1712G>C
c.1780G>C (p.Ala594Pro)
c.6101G>C
c.6559G>C (p.Ala2187Pro)
c.705-489G>C (n.705-489G>C)
c.3881G>C
c.6283G>C (p.Ala2095Pro)
c.5995G>C (p.Ala1999Pro)
c.3523G>C (p.Ala1175Pro)
ClinVar gnomAD v4
19g.35733108G=CA2333794665KMT2Bn.865G=
c.6493G= (p.Ala2165=)
c.4100G= (n.4100G=)
c.1777G= (p.Ala593=)
n.1712G=
c.1780G= (p.Ala594=)
c.6101G=
c.6559G= (p.Ala2187=)
c.705-489G= (n.705-489G=)
c.3881G=
c.6283G= (p.Ala2095=)
c.5995G= (p.Ala1999=)
c.3523G= (p.Ala1175=)
19g.35733108G>TCA9385722KMT2Bn.865G>T
c.6493G>T (p.Ala2165Ser)
c.4100G>T (n.4100G>T)
c.1777G>T (p.Ala593Ser)
n.1712G>T
c.1780G>T (p.Ala594Ser)
c.6101G>T
c.6559G>T (p.Ala2187Ser)
c.705-489G>T (n.705-489G>T)
c.3881G>T
c.6283G>T (p.Ala2095Ser)
c.5995G>T (p.Ala1999Ser)
c.3523G>T (p.Ala1175Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35733109C>ACA405429294KMT2Bn.866C>A
c.6494C>A (p.Ala2165Asp)
c.4101C>A (n.4101C>A)
c.1778C>A (p.Ala593Asp)
n.1713C>A
c.1781C>A (p.Ala594Asp)
c.6102C>A
c.6560C>A (p.Ala2187Asp)
c.705-488C>A (n.705-488C>A)
c.3882C>A
c.6284C>A (p.Ala2095Asp)
c.5996C>A (p.Ala1999Asp)
c.3524C>A (p.Ala1175Asp)
gnomAD v4
19g.35733109C=CA2333794666KMT2Bn.866C=
c.6494C= (p.Ala2165=)
c.4101C= (n.4101C=)
c.1778C= (p.Ala593=)
n.1713C=
c.1781C= (p.Ala594=)
c.6102C=
c.6560C= (p.Ala2187=)
c.705-488C= (n.705-488C=)
c.3882C=
c.6284C= (p.Ala2095=)
c.5996C= (p.Ala1999=)
c.3524C= (p.Ala1175=)
19g.35733109C>GCA405429295KMT2Bn.866C>G
c.6494C>G (p.Ala2165Gly)
c.4101C>G (n.4101C>G)
c.1778C>G (p.Ala593Gly)
n.1713C>G
c.1781C>G (p.Ala594Gly)
c.6102C>G
c.6560C>G (p.Ala2187Gly)
c.705-488C>G (n.705-488C>G)
c.3882C>G
c.6284C>G (p.Ala2095Gly)
c.5996C>G (p.Ala1999Gly)
c.3524C>G (p.Ala1175Gly)
gnomAD v4
19g.35733109C>TCA307797055KMT2Bn.866C>T
c.6494C>T (p.Ala2165Val)
c.4101C>T (n.4101C>T)
c.1778C>T (p.Ala593Val)
n.1713C>T
c.1781C>T (p.Ala594Val)
c.6102C>T
c.6560C>T (p.Ala2187Val)
c.705-488C>T (n.705-488C>T)
c.3882C>T
c.6284C>T (p.Ala2095Val)
c.5996C>T (p.Ala1999Val)
c.3524C>T (p.Ala1175Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35733110delCA2584575165KMT2Bn.867del
c.6495del (p.Thr2166HisfsTer15)
c.4102del (n.4102del)
c.1779del (p.Thr594HisfsTer15)
n.1714del
c.1782del (p.Thr595HisfsTer15)
c.6103del
c.6561del (p.Thr2188HisfsTer15)
c.705-487del (n.705-487del)
c.3883del
c.6285del (p.Thr2096HisfsTer15)
c.5997del (p.Thr2000HisfsTer15)
c.3525del (p.Thr1176HisfsTer15)
gnomAD v4
19g.35733110C>ACA507308561KMT2Bn.867C>A
c.6495C>A (p.Ala2165=)
c.4102C>A (n.4102C>A)
c.1779C>A (p.Ala593=)
n.1714C>A
c.1782C>A (p.Ala594=)
c.6103C>A
c.6561C>A (p.Ala2187=)
c.705-487C>A (n.705-487C>A)
c.3883C>A
c.6285C>A (p.Ala2095=)
c.5997C>A (p.Ala1999=)
c.3525C>A (p.Ala1175=)
gnomAD v4
19g.35733110C=CA2333794667KMT2Bn.867C=
c.6495C= (p.Ala2165=)
c.4102C= (n.4102C=)
c.1779C= (p.Ala593=)
n.1714C=
c.1782C= (p.Ala594=)
c.6103C=
c.6561C= (p.Ala2187=)
c.705-487C= (n.705-487C=)
c.3883C=
c.6285C= (p.Ala2095=)
c.5997C= (p.Ala1999=)
c.3525C= (p.Ala1175=)
19g.35733110C>GCA507308562KMT2Bn.867C>G
c.6495C>G (p.Ala2165=)
c.4102C>G (n.4102C>G)
c.1779C>G (p.Ala593=)
n.1714C>G
c.1782C>G (p.Ala594=)
c.6103C>G
c.6561C>G (p.Ala2187=)
c.705-487C>G (n.705-487C>G)
c.3883C>G
c.6285C>G (p.Ala2095=)
c.5997C>G (p.Ala1999=)
c.3525C>G (p.Ala1175=)
19g.35733110C>TCA9385723KMT2Bn.867C>T
c.6495C>T (p.Ala2165=)
c.4102C>T (n.4102C>T)
c.1779C>T (p.Ala593=)
n.1714C>T
c.1782C>T (p.Ala594=)
c.6103C>T
c.6561C>T (p.Ala2187=)
c.705-487C>T (n.705-487C>T)
c.3883C>T
c.6285C>T (p.Ala2095=)
c.5997C>T (p.Ala1999=)
c.3525C>T (p.Ala1175=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35733111A>CCA405429296KMT2Bn.868A>C
c.6496A>C (p.Thr2166Pro)
c.4103A>C (n.4103A>C)
c.1780A>C (p.Thr594Pro)
n.1715A>C
c.1783A>C (p.Thr595Pro)
c.6104A>C
c.6562A>C (p.Thr2188Pro)
c.705-486A>C (n.705-486A>C)
c.3884A>C
c.6286A>C (p.Thr2096Pro)
c.5998A>C (p.Thr2000Pro)
c.3526A>C (p.Thr1176Pro)
19g.35733111A>GCA405429297KMT2Bn.868A>G
c.6496A>G (p.Thr2166Ala)
c.4103A>G (n.4103A>G)
c.1780A>G (p.Thr594Ala)
n.1715A>G
c.1783A>G (p.Thr595Ala)
c.6104A>G
c.6562A>G (p.Thr2188Ala)
c.705-486A>G (n.705-486A>G)
c.3884A>G
c.6286A>G (p.Thr2096Ala)
c.5998A>G (p.Thr2000Ala)
c.3526A>G (p.Thr1176Ala)
gnomAD v4
19g.35733111A>TCA405429298KMT2Bn.868A>T
c.6496A>T (p.Thr2166Ser)
c.4103A>T (n.4103A>T)
c.1780A>T (p.Thr594Ser)
n.1715A>T
c.1783A>T (p.Thr595Ser)
c.6104A>T
c.6562A>T (p.Thr2188Ser)
c.705-486A>T (n.705-486A>T)
c.3884A>T
c.6286A>T (p.Thr2096Ser)
c.5998A>T (p.Thr2000Ser)
c.3526A>T (p.Thr1176Ser)
gnomAD v4
19g.35733112C>ACA405429299KMT2Bn.869C>A
c.6497C>A (p.Thr2166Lys)
c.4104C>A (n.4104C>A)
c.1781C>A (p.Thr594Lys)
n.1716C>A
c.1784C>A (p.Thr595Lys)
c.6105C>A
c.6563C>A (p.Thr2188Lys)
c.705-485C>A (n.705-485C>A)
c.3885C>A
c.6287C>A (p.Thr2096Lys)
c.5999C>A (p.Thr2000Lys)
c.3527C>A (p.Thr1176Lys)
gnomAD v4
19g.35733112C>GCA405429301KMT2Bn.869C>G
c.6497C>G (p.Thr2166Arg)
c.4104C>G (n.4104C>G)
c.1781C>G (p.Thr594Arg)
n.1716C>G
c.1784C>G (p.Thr595Arg)
c.6105C>G
c.6563C>G (p.Thr2188Arg)
c.705-485C>G (n.705-485C>G)
c.3885C>G
c.6287C>G (p.Thr2096Arg)
c.5999C>G (p.Thr2000Arg)
c.3527C>G (p.Thr1176Arg)
19g.35733112C>TCA405429300KMT2Bn.869C>T
c.6497C>T (p.Thr2166Ile)
c.4104C>T (n.4104C>T)
c.1781C>T (p.Thr594Ile)
n.1716C>T
c.1784C>T (p.Thr595Ile)
c.6105C>T
c.6563C>T (p.Thr2188Ile)
c.705-485C>T (n.705-485C>T)
c.3885C>T
c.6287C>T (p.Thr2096Ile)
c.5999C>T (p.Thr2000Ile)
c.3527C>T (p.Thr1176Ile)
19g.35733113A>CCA507308577KMT2Bn.870A>C
c.6498A>C (p.Thr2166=)
c.4105A>C (n.4105A>C)
c.1782A>C (p.Thr594=)
n.1717A>C
c.1785A>C (p.Thr595=)
c.6106A>C
c.6564A>C (p.Thr2188=)
c.705-484A>C (n.705-484A>C)
c.3886A>C
c.6288A>C (p.Thr2096=)
c.6000A>C (p.Thr2000=)
c.3528A>C (p.Thr1176=)
19g.35733113A>GCA507308578KMT2Bn.870A>G
c.6498A>G (p.Thr2166=)
c.4105A>G (n.4105A>G)
c.1782A>G (p.Thr594=)
n.1717A>G
c.1785A>G (p.Thr595=)
c.6106A>G
c.6564A>G (p.Thr2188=)
c.705-484A>G (n.705-484A>G)
c.3886A>G
c.6288A>G (p.Thr2096=)
c.6000A>G (p.Thr2000=)
c.3528A>G (p.Thr1176=)
gnomAD v4
19g.35733113A>TCA507308575KMT2Bn.870A>T
c.6498A>T (p.Thr2166=)
c.4105A>T (n.4105A>T)
c.1782A>T (p.Thr594=)
n.1717A>T
c.1785A>T (p.Thr595=)
c.6106A>T
c.6564A>T (p.Thr2188=)
c.705-484A>T (n.705-484A>T)
c.3886A>T
c.6288A>T (p.Thr2096=)
c.6000A>T (p.Thr2000=)
c.3528A>T (p.Thr1176=)
19g.35733114T>ACA405429302KMT2Bn.871T>A
c.6499T>A (p.Ser2167Thr)
c.4106T>A (n.4106T>A)
c.1783T>A (p.Ser595Thr)
n.1718T>A
c.1786T>A (p.Ser596Thr)
c.6107T>A
c.6565T>A (p.Ser2189Thr)
c.705-483T>A (n.705-483T>A)
c.3887T>A
c.6289T>A (p.Ser2097Thr)
c.6001T>A (p.Ser2001Thr)
c.3529T>A (p.Ser1177Thr)
19g.35733114T>CCA405429303KMT2Bn.871T>C
c.6499T>C (p.Ser2167Pro)
c.4106T>C (n.4106T>C)
c.1783T>C (p.Ser595Pro)
n.1718T>C
c.1786T>C (p.Ser596Pro)
c.6107T>C
c.6565T>C (p.Ser2189Pro)
c.705-483T>C (n.705-483T>C)
c.3887T>C
c.6289T>C (p.Ser2097Pro)
c.6001T>C (p.Ser2001Pro)
c.3529T>C (p.Ser1177Pro)
gnomAD v4
19g.35733114T>GCA405429304KMT2Bn.871T>G
c.6499T>G (p.Ser2167Ala)
c.4106T>G (n.4106T>G)
c.1783T>G (p.Ser595Ala)
n.1718T>G
c.1786T>G (p.Ser596Ala)
c.6107T>G
c.6565T>G (p.Ser2189Ala)
c.705-483T>G (n.705-483T>G)
c.3887T>G
c.6289T>G (p.Ser2097Ala)
c.6001T>G (p.Ser2001Ala)
c.3529T>G (p.Ser1177Ala)
dbSNP gnomAD v4
19g.35733114T=CA2333794668KMT2Bn.871T=
c.6499T= (p.Ser2167=)
c.4106T= (n.4106T=)
c.1783T= (p.Ser595=)
n.1718T=
c.1786T= (p.Ser596=)
c.6107T=
c.6565T= (p.Ser2189=)
c.705-483T= (n.705-483T=)
c.3887T=
c.6289T= (p.Ser2097=)
c.6001T= (p.Ser2001=)
c.3529T= (p.Ser1177=)
19g.35733115C>ACA405429305KMT2Bn.872C>A
c.6500C>A (p.Ser2167Tyr)
c.4107C>A (n.4107C>A)
c.1784C>A (p.Ser595Tyr)
n.1719C>A
c.1787C>A (p.Ser596Tyr)
c.6108C>A
c.6566C>A (p.Ser2189Tyr)
c.705-482C>A (n.705-482C>A)
c.3888C>A
c.6290C>A (p.Ser2097Tyr)
c.6002C>A (p.Ser2001Tyr)
c.3530C>A (p.Ser1177Tyr)
gnomAD v4
19g.35733115C=CA2333794669KMT2Bn.872C=
c.6500C= (p.Ser2167=)
c.4107C= (n.4107C=)
c.1784C= (p.Ser595=)
n.1719C=
c.1787C= (p.Ser596=)
c.6108C=
c.6566C= (p.Ser2189=)
c.705-482C= (n.705-482C=)
c.3888C=
c.6290C= (p.Ser2097=)
c.6002C= (p.Ser2001=)
c.3530C= (p.Ser1177=)
19g.35733115C>GCA9385724KMT2Bn.872C>G
c.6500C>G (p.Ser2167Cys)
c.4107C>G (n.4107C>G)
c.1784C>G (p.Ser595Cys)
n.1719C>G
c.1787C>G (p.Ser596Cys)
c.6108C>G
c.6566C>G (p.Ser2189Cys)
c.705-482C>G (n.705-482C>G)
c.3888C>G
c.6290C>G (p.Ser2097Cys)
c.6002C>G (p.Ser2001Cys)
c.3530C>G (p.Ser1177Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35733115C>TCA405429306KMT2Bn.872C>T
c.6500C>T (p.Ser2167Phe)
c.4107C>T (n.4107C>T)
c.1784C>T (p.Ser595Phe)
n.1719C>T
c.1787C>T (p.Ser596Phe)
c.6108C>T
c.6566C>T (p.Ser2189Phe)
c.705-482C>T (n.705-482C>T)
c.3888C>T
c.6290C>T (p.Ser2097Phe)
c.6002C>T (p.Ser2001Phe)
c.3530C>T (p.Ser1177Phe)
gnomAD v4
19g.35733116C>ACA507308589KMT2Bn.873C>A
c.6501C>A (p.Ser2167=)
c.4108C>A (n.4108C>A)
c.1785C>A (p.Ser595=)
n.1720C>A
c.1788C>A (p.Ser596=)
c.6109C>A
c.6567C>A (p.Ser2189=)
c.705-481C>A (n.705-481C>A)
c.3889C>A
c.6291C>A (p.Ser2097=)
c.6003C>A (p.Ser2001=)
c.3531C>A (p.Ser1177=)
gnomAD v4
19g.35733116C>GCA507308591KMT2Bn.873C>G
c.6501C>G (p.Ser2167=)
c.4108C>G (n.4108C>G)
c.1785C>G (p.Ser595=)
n.1720C>G
c.1788C>G (p.Ser596=)
c.6109C>G
c.6567C>G (p.Ser2189=)
c.705-481C>G (n.705-481C>G)
c.3889C>G
c.6291C>G (p.Ser2097=)
c.6003C>G (p.Ser2001=)
c.3531C>G (p.Ser1177=)
19g.35733116C>TCA507308593KMT2Bn.873C>T
c.6501C>T (p.Ser2167=)
c.4108C>T (n.4108C>T)
c.1785C>T (p.Ser595=)
n.1720C>T
c.1788C>T (p.Ser596=)
c.6109C>T
c.6567C>T (p.Ser2189=)
c.705-481C>T (n.705-481C>T)
c.3889C>T
c.6291C>T (p.Ser2097=)
c.6003C>T (p.Ser2001=)
c.3531C>T (p.Ser1177=)
gnomAD v4
19g.35733117A>CCA405429307KMT2Bn.874A>C
c.6502A>C (p.Lys2168Gln)
c.4109A>C (n.4109A>C)
c.1786A>C (p.Lys596Gln)
n.1721A>C
c.1789A>C (p.Lys597Gln)
c.6110A>C
c.6568A>C (p.Lys2190Gln)
c.705-480A>C (n.705-480A>C)
c.3890A>C
c.6292A>C (p.Lys2098Gln)
c.6004A>C (p.Lys2002Gln)
c.3532A>C (p.Lys1178Gln)
19g.35733117A>GCA405429308KMT2Bn.874A>G
c.6502A>G (p.Lys2168Glu)
c.4109A>G (n.4109A>G)
c.1786A>G (p.Lys596Glu)
n.1721A>G
c.1789A>G (p.Lys597Glu)
c.6110A>G
c.6568A>G (p.Lys2190Glu)
c.705-480A>G (n.705-480A>G)
c.3890A>G
c.6292A>G (p.Lys2098Glu)
c.6004A>G (p.Lys2002Glu)
c.3532A>G (p.Lys1178Glu)
gnomAD v4
19g.35733117A>TCA405429309KMT2Bn.874A>T
c.6502A>T (p.Lys2168Ter)
c.4109A>T (n.4109A>T)
c.1786A>T (p.Lys596Ter)
n.1721A>T
c.1789A>T (p.Lys597Ter)
c.6110A>T
c.6568A>T (p.Lys2190Ter)
c.705-480A>T (n.705-480A>T)
c.3890A>T
c.6292A>T (p.Lys2098Ter)
c.6004A>T (p.Lys2002Ter)
c.3532A>T (p.Lys1178Ter)
19g.35733120delCA2584575166KMT2Bn.877del
c.6505del (p.Ile2169SerfsTer12)
c.4112del (n.4112del)
c.1789del (p.Ile597SerfsTer12)
n.1724del
c.1792del (p.Ile598SerfsTer12)
c.6113del
c.6571del (p.Ile2191SerfsTer12)
c.705-477del (n.705-477del)
c.3893del
c.6295del (p.Ile2099SerfsTer12)
c.6007del (p.Ile2003SerfsTer12)
c.3535del (p.Ile1179SerfsTer12)
gnomAD v4
19g.35733118A>CCA405429310KMT2Bn.875A>C
c.6503A>C (p.Lys2168Thr)
c.4110A>C (n.4110A>C)
c.1787A>C (p.Lys596Thr)
n.1722A>C
c.1790A>C (p.Lys597Thr)
c.6111A>C
c.6569A>C (p.Lys2190Thr)
c.705-479A>C (n.705-479A>C)
c.3891A>C
c.6293A>C (p.Lys2098Thr)
c.6005A>C (p.Lys2002Thr)
c.3533A>C (p.Lys1178Thr)
19g.35733118A>GCA405429311KMT2Bn.875A>G
c.6503A>G (p.Lys2168Arg)
c.4110A>G (n.4110A>G)
c.1787A>G (p.Lys596Arg)
n.1722A>G
c.1790A>G (p.Lys597Arg)
c.6111A>G
c.6569A>G (p.Lys2190Arg)
c.705-479A>G (n.705-479A>G)
c.3891A>G
c.6293A>G (p.Lys2098Arg)
c.6005A>G (p.Lys2002Arg)
c.3533A>G (p.Lys1178Arg)
gnomAD v4
19g.35733118A>TCA405429312KMT2Bn.875A>T
c.6503A>T (p.Lys2168Ile)
c.4110A>T (n.4110A>T)
c.1787A>T (p.Lys596Ile)
n.1722A>T
c.1790A>T (p.Lys597Ile)
c.6111A>T
c.6569A>T (p.Lys2190Ile)
c.705-479A>T (n.705-479A>T)
c.3891A>T
c.6293A>T (p.Lys2098Ile)
c.6005A>T (p.Lys2002Ile)
c.3533A>T (p.Lys1178Ile)
19g.35733119A=CA2333794670KMT2Bn.876A=
c.6504A= (p.Lys2168=)
c.4111A= (n.4111A=)
c.1788A= (p.Lys596=)
n.1723A=
c.1791A= (p.Lys597=)
c.6112A=
c.6570A= (p.Lys2190=)
c.705-478A= (n.705-478A=)
c.3892A=
c.6294A= (p.Lys2098=)
c.6006A= (p.Lys2002=)
c.3534A= (p.Lys1178=)
19g.35733119A>CCA405429313KMT2Bn.876A>C
c.6504A>C (p.Lys2168Asn)
c.4111A>C (n.4111A>C)
c.1788A>C (p.Lys596Asn)
n.1723A>C
c.1791A>C (p.Lys597Asn)
c.6112A>C
c.6570A>C (p.Lys2190Asn)
c.705-478A>C (n.705-478A>C)
c.3892A>C
c.6294A>C (p.Lys2098Asn)
c.6006A>C (p.Lys2002Asn)
c.3534A>C (p.Lys1178Asn)
19g.35733119A>GCA9385725KMT2Bn.876A>G
c.6504A>G (p.Lys2168=)
c.4111A>G (n.4111A>G)
c.1788A>G (p.Lys596=)
n.1723A>G
c.1791A>G (p.Lys597=)
c.6112A>G
c.6570A>G (p.Lys2190=)
c.705-478A>G (n.705-478A>G)
c.3892A>G
c.6294A>G (p.Lys2098=)
c.6006A>G (p.Lys2002=)
c.3534A>G (p.Lys1178=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35733119A>TCA405429315KMT2Bn.876A>T
c.6504A>T (p.Lys2168Asn)
c.4111A>T (n.4111A>T)
c.1788A>T (p.Lys596Asn)
n.1723A>T
c.1791A>T (p.Lys597Asn)
c.6112A>T
c.6570A>T (p.Lys2190Asn)
c.705-478A>T (n.705-478A>T)
c.3892A>T
c.6294A>T (p.Lys2098Asn)
c.6006A>T (p.Lys2002Asn)
c.3534A>T (p.Lys1178Asn)
19g.35733120A=CA2333794671KMT2Bn.877A=
c.6505A= (p.Ile2169=)
c.4112A= (n.4112A=)
c.1789A= (p.Ile597=)
n.1724A=
c.1792A= (p.Ile598=)
c.6113A=
c.6571A= (p.Ile2191=)
c.705-477A= (n.705-477A=)
c.3893A=
c.6295A= (p.Ile2099=)
c.6007A= (p.Ile2003=)
c.3535A= (p.Ile1179=)
19g.35733120A>CCA405429318KMT2Bn.877A>C
c.6505A>C (p.Ile2169Leu)
c.4112A>C (n.4112A>C)
c.1789A>C (p.Ile597Leu)
n.1724A>C
c.1792A>C (p.Ile598Leu)
c.6113A>C
c.6571A>C (p.Ile2191Leu)
c.705-477A>C (n.705-477A>C)
c.3893A>C
c.6295A>C (p.Ile2099Leu)
c.6007A>C (p.Ile2003Leu)
c.3535A>C (p.Ile1179Leu)
19g.35733120A>GCA405429321KMT2Bn.877A>G
c.6505A>G (p.Ile2169Val)
c.4112A>G (n.4112A>G)
c.1789A>G (p.Ile597Val)
n.1724A>G
c.1792A>G (p.Ile598Val)
c.6113A>G
c.6571A>G (p.Ile2191Val)
c.705-477A>G (n.705-477A>G)
c.3893A>G
c.6295A>G (p.Ile2099Val)
c.6007A>G (p.Ile2003Val)
c.3535A>G (p.Ile1179Val)
ClinVar dbSNP
19g.35733120A>TCA405429323KMT2Bn.877A>T
c.6505A>T (p.Ile2169Phe)
c.4112A>T (n.4112A>T)
c.1789A>T (p.Ile597Phe)
n.1724A>T
c.1792A>T (p.Ile598Phe)
c.6113A>T
c.6571A>T (p.Ile2191Phe)
c.705-477A>T (n.705-477A>T)
c.3893A>T
c.6295A>T (p.Ile2099Phe)
c.6007A>T (p.Ile2003Phe)
c.3535A>T (p.Ile1179Phe)
gnomAD v4
19g.35733121T>ACA405429326KMT2Bn.878T>A
c.6506T>A (p.Ile2169Asn)
c.4113T>A (n.4113T>A)
c.1790T>A (p.Ile597Asn)
n.1725T>A
c.1793T>A (p.Ile598Asn)
c.6114T>A
c.6572T>A (p.Ile2191Asn)
c.705-476T>A (n.705-476T>A)
c.3894T>A
c.6296T>A (p.Ile2099Asn)
c.6008T>A (p.Ile2003Asn)
c.3536T>A (p.Ile1179Asn)
19g.35733121T>CCA405429327KMT2Bn.878T>C
c.6506T>C (p.Ile2169Thr)
c.4113T>C (n.4113T>C)
c.1790T>C (p.Ile597Thr)
n.1725T>C
c.1793T>C (p.Ile598Thr)
c.6114T>C
c.6572T>C (p.Ile2191Thr)
c.705-476T>C (n.705-476T>C)
c.3894T>C
c.6296T>C (p.Ile2099Thr)
c.6008T>C (p.Ile2003Thr)
c.3536T>C (p.Ile1179Thr)
19g.35733121T>GCA405429329KMT2Bn.878T>G
c.6506T>G (p.Ile2169Ser)
c.4113T>G (n.4113T>G)
c.1790T>G (p.Ile597Ser)
n.1725T>G
c.1793T>G (p.Ile598Ser)
c.6114T>G
c.6572T>G (p.Ile2191Ser)
c.705-476T>G (n.705-476T>G)
c.3894T>G
c.6296T>G (p.Ile2099Ser)
c.6008T>G (p.Ile2003Ser)
c.3536T>G (p.Ile1179Ser)
19g.35733122C>ACA507308609KMT2Bn.879C>A
c.6507C>A (p.Ile2169=)
c.4114C>A (n.4114C>A)
c.1791C>A (p.Ile597=)
n.1726C>A
c.1794C>A (p.Ile598=)
c.6115C>A
c.6573C>A (p.Ile2191=)
c.705-475C>A (n.705-475C>A)
c.3895C>A
c.6297C>A (p.Ile2099=)
c.6009C>A (p.Ile2003=)
c.3537C>A (p.Ile1179=)
dbSNP gnomAD v2 gnomAD v4
19g.35733122C=CA2333794672KMT2Bn.879C=
c.6507C= (p.Ile2169=)
c.4114C= (n.4114C=)
c.1791C= (p.Ile597=)
n.1726C=
c.1794C= (p.Ile598=)
c.6115C=
c.6573C= (p.Ile2191=)
c.705-475C= (n.705-475C=)
c.3895C=
c.6297C= (p.Ile2099=)
c.6009C= (p.Ile2003=)
c.3537C= (p.Ile1179=)
19g.35733122C>GCA405429331KMT2Bn.879C>G
c.6507C>G (p.Ile2169Met)
c.4114C>G (n.4114C>G)
c.1791C>G (p.Ile597Met)
n.1726C>G
c.1794C>G (p.Ile598Met)
c.6115C>G
c.6573C>G (p.Ile2191Met)
c.705-475C>G (n.705-475C>G)
c.3895C>G
c.6297C>G (p.Ile2099Met)
c.6009C>G (p.Ile2003Met)
c.3537C>G (p.Ile1179Met)
19g.35733122C>TCA507308613KMT2Bn.879C>T
c.6507C>T (p.Ile2169=)
c.4114C>T (n.4114C>T)
c.1791C>T (p.Ile597=)
n.1726C>T
c.1794C>T (p.Ile598=)
c.6115C>T
c.6573C>T (p.Ile2191=)
c.705-475C>T (n.705-475C>T)
c.3895C>T
c.6297C>T (p.Ile2099=)
c.6009C>T (p.Ile2003=)
c.3537C>T (p.Ile1179=)
gnomAD v4
19g.35733123A=CA2333794673KMT2Bn.880A=
c.6508A= (p.Ile2170=)
c.4115A= (n.4115A=)
c.1792A= (p.Ile598=)
n.1727A=
c.1795A= (p.Ile599=)
c.6116A=
c.6574A= (p.Ile2192=)
c.705-474A= (n.705-474A=)
c.3896A=
c.6298A= (p.Ile2100=)
c.6010A= (p.Ile2004=)
c.3538A= (p.Ile1180=)
19g.35733123A>CCA405429334KMT2Bn.880A>C
c.6508A>C (p.Ile2170Leu)
c.4115A>C (n.4115A>C)
c.1792A>C (p.Ile598Leu)
n.1727A>C
c.1795A>C (p.Ile599Leu)
c.6116A>C
c.6574A>C (p.Ile2192Leu)
c.705-474A>C (n.705-474A>C)
c.3896A>C
c.6298A>C (p.Ile2100Leu)
c.6010A>C (p.Ile2004Leu)
c.3538A>C (p.Ile1180Leu)
19g.35733123A>GCA405429335KMT2Bn.880A>G
c.6508A>G (p.Ile2170Val)
c.4115A>G (n.4115A>G)
c.1792A>G (p.Ile598Val)
n.1727A>G
c.1795A>G (p.Ile599Val)
c.6116A>G
c.6574A>G (p.Ile2192Val)
c.705-474A>G (n.705-474A>G)
c.3896A>G
c.6298A>G (p.Ile2100Val)
c.6010A>G (p.Ile2004Val)
c.3538A>G (p.Ile1180Val)
dbSNP gnomAD v3 gnomAD v4
19g.35733123A>TCA405429337KMT2Bn.880A>T
c.6508A>T (p.Ile2170Leu)
c.4115A>T (n.4115A>T)
c.1792A>T (p.Ile598Leu)
n.1727A>T
c.1795A>T (p.Ile599Leu)
c.6116A>T
c.6574A>T (p.Ile2192Leu)
c.705-474A>T (n.705-474A>T)
c.3896A>T
c.6298A>T (p.Ile2100Leu)
c.6010A>T (p.Ile2004Leu)
c.3538A>T (p.Ile1180Leu)
dbSNP gnomAD v4
19g.35733124T>ACA405429339KMT2Bn.881T>A
c.6509T>A (p.Ile2170Lys)
c.4116T>A (n.4116T>A)
c.1793T>A (p.Ile598Lys)
n.1728T>A
c.1796T>A (p.Ile599Lys)
c.6117T>A
c.6575T>A (p.Ile2192Lys)
c.705-473T>A (n.705-473T>A)
c.3897T>A
c.6299T>A (p.Ile2100Lys)
c.6011T>A (p.Ile2004Lys)
c.3539T>A (p.Ile1180Lys)
19g.35733124T>CCA405429341KMT2Bn.881T>C
c.6509T>C (p.Ile2170Thr)
c.4116T>C (n.4116T>C)
c.1793T>C (p.Ile598Thr)
n.1728T>C
c.1796T>C (p.Ile599Thr)
c.6117T>C
c.6575T>C (p.Ile2192Thr)
c.705-473T>C (n.705-473T>C)
c.3897T>C
c.6299T>C (p.Ile2100Thr)
c.6011T>C (p.Ile2004Thr)
c.3539T>C (p.Ile1180Thr)
19g.35733124T>GCA405429342KMT2Bn.881T>G
c.6509T>G (p.Ile2170Arg)
c.4116T>G (n.4116T>G)
c.1793T>G (p.Ile598Arg)
n.1728T>G
c.1796T>G (p.Ile599Arg)
c.6117T>G
c.6575T>G (p.Ile2192Arg)
c.705-473T>G (n.705-473T>G)
c.3897T>G
c.6299T>G (p.Ile2100Arg)
c.6011T>G (p.Ile2004Arg)
c.3539T>G (p.Ile1180Arg)

Number of alleles fetched