Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35732954_35732955delinsACCA2333794576KMT2Bn.711_712delinsAC
c.6339_6340delinsAC (p.Ser2113=)
c.3946_3947delinsAC (n.3946_3947delinsAC)
c.1623_1624delinsAC (p.Ser541=)
n.1558_1559delinsAC
c.1626_1627delinsAC (p.Ser542=)
c.5947_5948delinsAC
c.6405_6406delinsAC (p.Ser2135=)
c.704+625_704+626delinsAC (n.704+625_704+626delinsAC)
c.3727_3728delinsAC
c.6129_6130delinsAC (p.Ser2043=)
c.5841_5842delinsAC (p.Ser1947=)
c.3369_3370delinsAC (p.Ser1123=)
19g.35732955delCA16043946KMT2Bn.712del
c.6340del (p.Leu2114SerfsTer17)
c.3947del (n.3947del)
c.1624del (p.Leu542SerfsTer17)
n.1559del
c.1627del (p.Leu543SerfsTer17)
c.5948del
c.6406del (p.Leu2136SerfsTer17)
c.704+626del (n.704+626del)
c.3728del
c.6130del (p.Leu2044SerfsTer17)
c.5842del (p.Leu1948SerfsTer17)
c.3370del (p.Leu1124SerfsTer17)
ClinVar dbSNP
19g.35732955C>ACA405428329KMT2Bn.712C>A
c.6340C>A (p.Leu2114Ile)
c.3947C>A (n.3947C>A)
c.1624C>A (p.Leu542Ile)
n.1559C>A
c.1627C>A (p.Leu543Ile)
c.5948C>A
c.6406C>A (p.Leu2136Ile)
c.704+626C>A (n.704+626C>A)
c.3728C>A
c.6130C>A (p.Leu2044Ile)
c.5842C>A (p.Leu1948Ile)
c.3370C>A (p.Leu1124Ile)
19g.35732955C>GCA405428327KMT2Bn.712C>G
c.6340C>G (p.Leu2114Val)
c.3947C>G (n.3947C>G)
c.1624C>G (p.Leu542Val)
n.1559C>G
c.1627C>G (p.Leu543Val)
c.5948C>G
c.6406C>G (p.Leu2136Val)
c.704+626C>G (n.704+626C>G)
c.3728C>G
c.6130C>G (p.Leu2044Val)
c.5842C>G (p.Leu1948Val)
c.3370C>G (p.Leu1124Val)
19g.35732955C>TCA405428324KMT2Bn.712C>T
c.6340C>T (p.Leu2114Phe)
c.3947C>T (n.3947C>T)
c.1624C>T (p.Leu542Phe)
n.1559C>T
c.1627C>T (p.Leu543Phe)
c.5948C>T
c.6406C>T (p.Leu2136Phe)
c.704+626C>T (n.704+626C>T)
c.3728C>T
c.6130C>T (p.Leu2044Phe)
c.5842C>T (p.Leu1948Phe)
c.3370C>T (p.Leu1124Phe)
gnomAD v4
19g.35732956T>ACA405428332KMT2Bn.713T>A
c.6341T>A (p.Leu2114His)
c.3948T>A (n.3948T>A)
c.1625T>A (p.Leu542His)
n.1560T>A
c.1628T>A (p.Leu543His)
c.5949T>A
c.6407T>A (p.Leu2136His)
c.704+627T>A (n.704+627T>A)
c.3729T>A
c.6131T>A (p.Leu2044His)
c.5843T>A (p.Leu1948His)
c.3371T>A (p.Leu1124His)
COSMIC
19g.35732956T>CCA405428335KMT2Bn.713T>C
c.6341T>C (p.Leu2114Pro)
c.3948T>C (n.3948T>C)
c.1625T>C (p.Leu542Pro)
n.1560T>C
c.1628T>C (p.Leu543Pro)
c.5949T>C
c.6407T>C (p.Leu2136Pro)
c.704+627T>C (n.704+627T>C)
c.3729T>C
c.6131T>C (p.Leu2044Pro)
c.5843T>C (p.Leu1948Pro)
c.3371T>C (p.Leu1124Pro)
gnomAD v4
19g.35732956T>GCA405428337KMT2Bn.713T>G
c.6341T>G (p.Leu2114Arg)
c.3948T>G (n.3948T>G)
c.1625T>G (p.Leu542Arg)
n.1560T>G
c.1628T>G (p.Leu543Arg)
c.5949T>G
c.6407T>G (p.Leu2136Arg)
c.704+627T>G (n.704+627T>G)
c.3729T>G
c.6131T>G (p.Leu2044Arg)
c.5843T>G (p.Leu1948Arg)
c.3371T>G (p.Leu1124Arg)
gnomAD v4
19g.35732956T=CA2333794577KMT2Bn.713T=
c.6341T= (p.Leu2114=)
c.3948T= (n.3948T=)
c.1625T= (p.Leu542=)
n.1560T=
c.1628T= (p.Leu543=)
c.5949T=
c.6407T= (p.Leu2136=)
c.704+627T= (n.704+627T=)
c.3729T=
c.6131T= (p.Leu2044=)
c.5843T= (p.Leu1948=)
c.3371T= (p.Leu1124=)
19g.35732957C>ACA507308829KMT2Bn.714C>A
c.6342C>A (p.Leu2114=)
c.3949C>A (n.3949C>A)
c.1626C>A (p.Leu542=)
n.1561C>A
c.1629C>A (p.Leu543=)
c.5950C>A
c.6408C>A (p.Leu2136=)
c.704+628C>A (n.704+628C>A)
c.3730C>A
c.6132C>A (p.Leu2044=)
c.5844C>A (p.Leu1948=)
c.3372C>A (p.Leu1124=)
19g.35732957C=CA2333794578KMT2Bn.714C=
c.6342C= (p.Leu2114=)
c.3949C= (n.3949C=)
c.1626C= (p.Leu542=)
n.1561C=
c.1629C= (p.Leu543=)
c.5950C=
c.6408C= (p.Leu2136=)
c.704+628C= (n.704+628C=)
c.3730C=
c.6132C= (p.Leu2044=)
c.5844C= (p.Leu1948=)
c.3372C= (p.Leu1124=)
19g.35732957C>GCA507308831KMT2Bn.714C>G
c.6342C>G (p.Leu2114=)
c.3949C>G (n.3949C>G)
c.1626C>G (p.Leu542=)
n.1561C>G
c.1629C>G (p.Leu543=)
c.5950C>G
c.6408C>G (p.Leu2136=)
c.704+628C>G (n.704+628C>G)
c.3730C>G
c.6132C>G (p.Leu2044=)
c.5844C>G (p.Leu1948=)
c.3372C>G (p.Leu1124=)
dbSNP
19g.35732957C>TCA507308832KMT2Bn.714C>T
c.6342C>T (p.Leu2114=)
c.3949C>T (n.3949C>T)
c.1626C>T (p.Leu542=)
n.1561C>T
c.1629C>T (p.Leu543=)
c.5950C>T
c.6408C>T (p.Leu2136=)
c.704+628C>T (n.704+628C>T)
c.3730C>T
c.6132C>T (p.Leu2044=)
c.5844C>T (p.Leu1948=)
c.3372C>T (p.Leu1124=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35732962dupCA9385679KMT2Bn.719dup
c.6347dup (p.Ala2117GlyfsTer6)
c.3954dup (n.3954dup)
c.1631dup (p.Ala545GlyfsTer6)
n.1566dup
c.1634dup (p.Ala546GlyfsTer6)
c.5955dup
c.6413dup (p.Ala2139GlyfsTer6)
c.704+633dup (n.704+633dup)
c.3735dup
c.6137dup (p.Ala2047GlyfsTer6)
c.5849dup (p.Ala1951GlyfsTer6)
c.3377dup (p.Ala1127GlyfsTer6)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35732962delCA645604595KMT2Bn.719del
c.6347del (p.Pro2116ArgfsTer15)
c.3954del (n.3954del)
c.1631del (p.Pro544ArgfsTer15)
n.1566del
c.1634del (p.Pro545ArgfsTer15)
c.5955del
c.6413del (p.Pro2138ArgfsTer15)
c.704+633del (n.704+633del)
c.3735del
c.6137del (p.Pro2046ArgfsTer15)
c.5849del (p.Pro1950ArgfsTer15)
c.3377del (p.Pro1126ArgfsTer15)
gnomAD v4 COSMIC
19g.35732958C>ACA405428343KMT2Bn.715C>A
c.6343C>A (p.Pro2115Thr)
c.3950C>A (n.3950C>A)
c.1627C>A (p.Pro543Thr)
n.1562C>A
c.1630C>A (p.Pro544Thr)
c.5951C>A
c.6409C>A (p.Pro2137Thr)
c.704+629C>A (n.704+629C>A)
c.3731C>A
c.6133C>A (p.Pro2045Thr)
c.5845C>A (p.Pro1949Thr)
c.3373C>A (p.Pro1125Thr)
gnomAD v4
19g.35732958C=CA2333794579KMT2Bn.715C=
c.6343C= (p.Pro2115=)
c.3950C= (n.3950C=)
c.1627C= (p.Pro543=)
n.1562C=
c.1630C= (p.Pro544=)
c.5951C=
c.6409C= (p.Pro2137=)
c.704+629C= (n.704+629C=)
c.3731C=
c.6133C= (p.Pro2045=)
c.5845C= (p.Pro1949=)
c.3373C= (p.Pro1125=)
19g.35732958C>GCA405428345KMT2Bn.715C>G
c.6343C>G (p.Pro2115Ala)
c.3950C>G (n.3950C>G)
c.1627C>G (p.Pro543Ala)
n.1562C>G
c.1630C>G (p.Pro544Ala)
c.5951C>G
c.6409C>G (p.Pro2137Ala)
c.704+629C>G (n.704+629C>G)
c.3731C>G
c.6133C>G (p.Pro2045Ala)
c.5845C>G (p.Pro1949Ala)
c.3373C>G (p.Pro1125Ala)
ClinVar gnomAD v4
19g.35732958C>TCA9385680KMT2Bn.715C>T
c.6343C>T (p.Pro2115Ser)
c.3950C>T (n.3950C>T)
c.1627C>T (p.Pro543Ser)
n.1562C>T
c.1630C>T (p.Pro544Ser)
c.5951C>T
c.6409C>T (p.Pro2137Ser)
c.704+629C>T (n.704+629C>T)
c.3731C>T
c.6133C>T (p.Pro2045Ser)
c.5845C>T (p.Pro1949Ser)
c.3373C>T (p.Pro1125Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732959C>ACA405428351KMT2Bn.716C>A
c.6344C>A (p.Pro2115His)
c.3951C>A (n.3951C>A)
c.1628C>A (p.Pro543His)
n.1563C>A
c.1631C>A (p.Pro544His)
c.5952C>A
c.6410C>A (p.Pro2137His)
c.704+630C>A (n.704+630C>A)
c.3732C>A
c.6134C>A (p.Pro2045His)
c.5846C>A (p.Pro1949His)
c.3374C>A (p.Pro1125His)
19g.35732959C>GCA405428353KMT2Bn.716C>G
c.6344C>G (p.Pro2115Arg)
c.3951C>G (n.3951C>G)
c.1628C>G (p.Pro543Arg)
n.1563C>G
c.1631C>G (p.Pro544Arg)
c.5952C>G
c.6410C>G (p.Pro2137Arg)
c.704+630C>G (n.704+630C>G)
c.3732C>G
c.6134C>G (p.Pro2045Arg)
c.5846C>G (p.Pro1949Arg)
c.3374C>G (p.Pro1125Arg)
19g.35732959C>TCA405428355KMT2Bn.716C>T
c.6344C>T (p.Pro2115Leu)
c.3951C>T (n.3951C>T)
c.1628C>T (p.Pro543Leu)
n.1563C>T
c.1631C>T (p.Pro544Leu)
c.5952C>T
c.6410C>T (p.Pro2137Leu)
c.704+630C>T (n.704+630C>T)
c.3732C>T
c.6134C>T (p.Pro2045Leu)
c.5846C>T (p.Pro1949Leu)
c.3374C>T (p.Pro1125Leu)
19g.35732960C>ACA9385681KMT2Bn.717C>A
c.6345C>A (p.Pro2115=)
c.3952C>A (n.3952C>A)
c.1629C>A (p.Pro543=)
n.1564C>A
c.1632C>A (p.Pro544=)
c.5953C>A
c.6411C>A (p.Pro2137=)
c.704+631C>A (n.704+631C>A)
c.3733C>A
c.6135C>A (p.Pro2045=)
c.5847C>A (p.Pro1949=)
c.3375C>A (p.Pro1125=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732960C=CA2333794580KMT2Bn.717C=
c.6345C= (p.Pro2115=)
c.3952C= (n.3952C=)
c.1629C= (p.Pro543=)
n.1564C=
c.1632C= (p.Pro544=)
c.5953C=
c.6411C= (p.Pro2137=)
c.704+631C= (n.704+631C=)
c.3733C=
c.6135C= (p.Pro2045=)
c.5847C= (p.Pro1949=)
c.3375C= (p.Pro1125=)
19g.35732960C>GCA507308847KMT2Bn.717C>G
c.6345C>G (p.Pro2115=)
c.3952C>G (n.3952C>G)
c.1629C>G (p.Pro543=)
n.1564C>G
c.1632C>G (p.Pro544=)
c.5953C>G
c.6411C>G (p.Pro2137=)
c.704+631C>G (n.704+631C>G)
c.3733C>G
c.6135C>G (p.Pro2045=)
c.5847C>G (p.Pro1949=)
c.3375C>G (p.Pro1125=)
dbSNP gnomAD v3 gnomAD v4
19g.35732960C>TCA507308845KMT2Bn.717C>T
c.6345C>T (p.Pro2115=)
c.3952C>T (n.3952C>T)
c.1629C>T (p.Pro543=)
n.1564C>T
c.1632C>T (p.Pro544=)
c.5953C>T
c.6411C>T (p.Pro2137=)
c.704+631C>T (n.704+631C>T)
c.3733C>T
c.6135C>T (p.Pro2045=)
c.5847C>T (p.Pro1949=)
c.3375C>T (p.Pro1125=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35732961C>ACA9385682KMT2Bn.718C>A
c.6346C>A (p.Pro2116Thr)
c.3953C>A (n.3953C>A)
c.1630C>A (p.Pro544Thr)
n.1565C>A
c.1633C>A (p.Pro545Thr)
c.5954C>A
c.6412C>A (p.Pro2138Thr)
c.704+632C>A (n.704+632C>A)
c.3734C>A
c.6136C>A (p.Pro2046Thr)
c.5848C>A (p.Pro1950Thr)
c.3376C>A (p.Pro1126Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732961C=CA2333794581KMT2Bn.718C=
c.6346C= (p.Pro2116=)
c.3953C= (n.3953C=)
c.1630C= (p.Pro544=)
n.1565C=
c.1633C= (p.Pro545=)
c.5954C=
c.6412C= (p.Pro2138=)
c.704+632C= (n.704+632C=)
c.3734C=
c.6136C= (p.Pro2046=)
c.5848C= (p.Pro1950=)
c.3376C= (p.Pro1126=)
19g.35732961C>GCA405428363KMT2Bn.718C>G
c.6346C>G (p.Pro2116Ala)
c.3953C>G (n.3953C>G)
c.1630C>G (p.Pro544Ala)
n.1565C>G
c.1633C>G (p.Pro545Ala)
c.5954C>G
c.6412C>G (p.Pro2138Ala)
c.704+632C>G (n.704+632C>G)
c.3734C>G
c.6136C>G (p.Pro2046Ala)
c.5848C>G (p.Pro1950Ala)
c.3376C>G (p.Pro1126Ala)
19g.35732961C>TCA405428360KMT2Bn.718C>T
c.6346C>T (p.Pro2116Ser)
c.3953C>T (n.3953C>T)
c.1630C>T (p.Pro544Ser)
n.1565C>T
c.1633C>T (p.Pro545Ser)
c.5954C>T
c.6412C>T (p.Pro2138Ser)
c.704+632C>T (n.704+632C>T)
c.3734C>T
c.6136C>T (p.Pro2046Ser)
c.5848C>T (p.Pro1950Ser)
c.3376C>T (p.Pro1126Ser)
dbSNP gnomAD v3 gnomAD v4
19g.35732962C>ACA9385683KMT2Bn.719C>A
c.6347C>A (p.Pro2116Gln)
c.3954C>A (n.3954C>A)
c.1631C>A (p.Pro544Gln)
n.1566C>A
c.1634C>A (p.Pro545Gln)
c.5955C>A
c.6413C>A (p.Pro2138Gln)
c.704+633C>A (n.704+633C>A)
c.3735C>A
c.6137C>A (p.Pro2046Gln)
c.5849C>A (p.Pro1950Gln)
c.3377C>A (p.Pro1126Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35732962C=CA2333794582KMT2Bn.719C=
c.6347C= (p.Pro2116=)
c.3954C= (n.3954C=)
c.1631C= (p.Pro544=)
n.1566C=
c.1634C= (p.Pro545=)
c.5955C=
c.6413C= (p.Pro2138=)
c.704+633C= (n.704+633C=)
c.3735C=
c.6137C= (p.Pro2046=)
c.5849C= (p.Pro1950=)
c.3377C= (p.Pro1126=)
19g.35732962C>GCA9385685KMT2Bn.719C>G
c.6347C>G (p.Pro2116Arg)
c.3954C>G (n.3954C>G)
c.1631C>G (p.Pro544Arg)
n.1566C>G
c.1634C>G (p.Pro545Arg)
c.5955C>G
c.6413C>G (p.Pro2138Arg)
c.704+633C>G (n.704+633C>G)
c.3735C>G
c.6137C>G (p.Pro2046Arg)
c.5849C>G (p.Pro1950Arg)
c.3377C>G (p.Pro1126Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732962C>TCA9385684KMT2Bn.719C>T
c.6347C>T (p.Pro2116Leu)
c.3954C>T (n.3954C>T)
c.1631C>T (p.Pro544Leu)
n.1566C>T
c.1634C>T (p.Pro545Leu)
c.5955C>T
c.6413C>T (p.Pro2138Leu)
c.704+633C>T (n.704+633C>T)
c.3735C>T
c.6137C>T (p.Pro2046Leu)
c.5849C>T (p.Pro1950Leu)
c.3377C>T (p.Pro1126Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732963G>ACA9385686KMT2Bn.720G>A
c.6348G>A (p.Pro2116=)
c.3955G>A (n.3955G>A)
c.1632G>A (p.Pro544=)
n.1567G>A
c.1635G>A (p.Pro545=)
c.5956G>A
c.6414G>A (p.Pro2138=)
c.705-634G>A (n.705-634G>A)
c.3736G>A
c.6138G>A (p.Pro2046=)
c.5850G>A (p.Pro1950=)
c.3378G>A (p.Pro1126=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732963G>CCA507308861KMT2Bn.720G>C
c.6348G>C (p.Pro2116=)
c.3955G>C (n.3955G>C)
c.1632G>C (p.Pro544=)
n.1567G>C
c.1635G>C (p.Pro545=)
c.5956G>C
c.6414G>C (p.Pro2138=)
c.705-634G>C (n.705-634G>C)
c.3736G>C
c.6138G>C (p.Pro2046=)
c.5850G>C (p.Pro1950=)
c.3378G>C (p.Pro1126=)
19g.35732963G=CA2333794583KMT2Bn.720G=
c.6348G= (p.Pro2116=)
c.3955G= (n.3955G=)
c.1632G= (p.Pro544=)
n.1567G=
c.1635G= (p.Pro545=)
c.5956G=
c.6414G= (p.Pro2138=)
c.705-634G= (n.705-634G=)
c.3736G=
c.6138G= (p.Pro2046=)
c.5850G= (p.Pro1950=)
c.3378G= (p.Pro1126=)
19g.35732963G>TCA507308864KMT2Bn.720G>T
c.6348G>T (p.Pro2116=)
c.3955G>T (n.3955G>T)
c.1632G>T (p.Pro544=)
n.1567G>T
c.1635G>T (p.Pro545=)
c.5956G>T
c.6414G>T (p.Pro2138=)
c.705-634G>T (n.705-634G>T)
c.3736G>T
c.6138G>T (p.Pro2046=)
c.5850G>T (p.Pro1950=)
c.3378G>T (p.Pro1126=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35732964G>ACA405428380KMT2Bn.721G>A
c.6349G>A (p.Ala2117Thr)
c.3956G>A (n.3956G>A)
c.1633G>A (p.Ala545Thr)
n.1568G>A
c.1636G>A (p.Ala546Thr)
c.5957G>A
c.6415G>A (p.Ala2139Thr)
c.705-633G>A (n.705-633G>A)
c.3737G>A
c.6139G>A (p.Ala2047Thr)
c.5851G>A (p.Ala1951Thr)
c.3379G>A (p.Ala1127Thr)
19g.35732964G>CCA405428377KMT2Bn.721G>C
c.6349G>C (p.Ala2117Pro)
c.3956G>C (n.3956G>C)
c.1633G>C (p.Ala545Pro)
n.1568G>C
c.1636G>C (p.Ala546Pro)
c.5957G>C
c.6415G>C (p.Ala2139Pro)
c.705-633G>C (n.705-633G>C)
c.3737G>C
c.6139G>C (p.Ala2047Pro)
c.5851G>C (p.Ala1951Pro)
c.3379G>C (p.Ala1127Pro)
19g.35732964G=CA2333794584KMT2Bn.721G=
c.6349G= (p.Ala2117=)
c.3956G= (n.3956G=)
c.1633G= (p.Ala545=)
n.1568G=
c.1636G= (p.Ala546=)
c.5957G=
c.6415G= (p.Ala2139=)
c.705-633G= (n.705-633G=)
c.3737G=
c.6139G= (p.Ala2047=)
c.5851G= (p.Ala1951=)
c.3379G= (p.Ala1127=)
19g.35732964G>TCA405428382KMT2Bn.721G>T
c.6349G>T (p.Ala2117Ser)
c.3956G>T (n.3956G>T)
c.1633G>T (p.Ala545Ser)
n.1568G>T
c.1636G>T (p.Ala546Ser)
c.5957G>T
c.6415G>T (p.Ala2139Ser)
c.705-633G>T (n.705-633G>T)
c.3737G>T
c.6139G>T (p.Ala2047Ser)
c.5851G>T (p.Ala1951Ser)
c.3379G>T (p.Ala1127Ser)
dbSNP gnomAD v3 gnomAD v4
19g.35732965C>ACA405428387KMT2Bn.722C>A
c.6350C>A (p.Ala2117Glu)
c.3957C>A (n.3957C>A)
c.1634C>A (p.Ala545Glu)
n.1569C>A
c.1637C>A (p.Ala546Glu)
c.5958C>A
c.6416C>A (p.Ala2139Glu)
c.705-632C>A (n.705-632C>A)
c.3738C>A
c.6140C>A (p.Ala2047Glu)
c.5852C>A (p.Ala1951Glu)
c.3380C>A (p.Ala1127Glu)
gnomAD v4
19g.35732965C=CA2333794585KMT2Bn.722C=
c.6350C= (p.Ala2117=)
c.3957C= (n.3957C=)
c.1634C= (p.Ala545=)
n.1569C=
c.1637C= (p.Ala546=)
c.5958C=
c.6416C= (p.Ala2139=)
c.705-632C= (n.705-632C=)
c.3738C=
c.6140C= (p.Ala2047=)
c.5852C= (p.Ala1951=)
c.3380C= (p.Ala1127=)
19g.35732965C>GCA405428388KMT2Bn.722C>G
c.6350C>G (p.Ala2117Gly)
c.3957C>G (n.3957C>G)
c.1634C>G (p.Ala545Gly)
n.1569C>G
c.1637C>G (p.Ala546Gly)
c.5958C>G
c.6416C>G (p.Ala2139Gly)
c.705-632C>G (n.705-632C>G)
c.3738C>G
c.6140C>G (p.Ala2047Gly)
c.5852C>G (p.Ala1951Gly)
c.3380C>G (p.Ala1127Gly)
dbSNP gnomAD v2
19g.35732965C>TCA405428390KMT2Bn.722C>T
c.6350C>T (p.Ala2117Val)
c.3957C>T (n.3957C>T)
c.1634C>T (p.Ala545Val)
n.1569C>T
c.1637C>T (p.Ala546Val)
c.5958C>T
c.6416C>T (p.Ala2139Val)
c.705-632C>T (n.705-632C>T)
c.3738C>T
c.6140C>T (p.Ala2047Val)
c.5852C>T (p.Ala1951Val)
c.3380C>T (p.Ala1127Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35732966G>ACA507308873KMT2Bn.723G>A
c.6351G>A (p.Ala2117=)
c.3958G>A (n.3958G>A)
c.1635G>A (p.Ala545=)
n.1570G>A
c.1638G>A (p.Ala546=)
c.5959G>A
c.6417G>A (p.Ala2139=)
c.705-631G>A (n.705-631G>A)
c.3739G>A
c.6141G>A (p.Ala2047=)
c.5853G>A (p.Ala1951=)
c.3381G>A (p.Ala1127=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35732966G>CCA507308884KMT2Bn.723G>C
c.6351G>C (p.Ala2117=)
c.3958G>C (n.3958G>C)
c.1635G>C (p.Ala545=)
n.1570G>C
c.1638G>C (p.Ala546=)
c.5959G>C
c.6417G>C (p.Ala2139=)
c.705-631G>C (n.705-631G>C)
c.3739G>C
c.6141G>C (p.Ala2047=)
c.5853G>C (p.Ala1951=)
c.3381G>C (p.Ala1127=)
19g.35732966G=CA2333794586KMT2Bn.723G=
c.6351G= (p.Ala2117=)
c.3958G= (n.3958G=)
c.1635G= (p.Ala545=)
n.1570G=
c.1638G= (p.Ala546=)
c.5959G=
c.6417G= (p.Ala2139=)
c.705-631G= (n.705-631G=)
c.3739G=
c.6141G= (p.Ala2047=)
c.5853G= (p.Ala1951=)
c.3381G= (p.Ala1127=)
19g.35732966G>TCA507308882KMT2Bn.723G>T
c.6351G>T (p.Ala2117=)
c.3958G>T (n.3958G>T)
c.1635G>T (p.Ala545=)
n.1570G>T
c.1638G>T (p.Ala546=)
c.5959G>T
c.6417G>T (p.Ala2139=)
c.705-631G>T (n.705-631G>T)
c.3739G>T
c.6141G>T (p.Ala2047=)
c.5853G>T (p.Ala1951=)
c.3381G>T (p.Ala1127=)
dbSNP gnomAD v3 gnomAD v4
19g.35732967C>ACA405428393KMT2Bn.724C>A
c.6352C>A (p.Pro2118Thr)
c.3959C>A (n.3959C>A)
c.1636C>A (p.Pro546Thr)
n.1571C>A
c.1639C>A (p.Pro547Thr)
c.5960C>A
c.6418C>A (p.Pro2140Thr)
c.705-630C>A (n.705-630C>A)
c.3740C>A
c.6142C>A (p.Pro2048Thr)
c.5854C>A (p.Pro1952Thr)
c.3382C>A (p.Pro1128Thr)
19g.35732967C>GCA405428396KMT2Bn.724C>G
c.6352C>G (p.Pro2118Ala)
c.3959C>G (n.3959C>G)
c.1636C>G (p.Pro546Ala)
n.1571C>G
c.1639C>G (p.Pro547Ala)
c.5960C>G
c.6418C>G (p.Pro2140Ala)
c.705-630C>G (n.705-630C>G)
c.3740C>G
c.6142C>G (p.Pro2048Ala)
c.5854C>G (p.Pro1952Ala)
c.3382C>G (p.Pro1128Ala)
19g.35732967C>TCA405428399KMT2Bn.724C>T
c.6352C>T (p.Pro2118Ser)
c.3959C>T (n.3959C>T)
c.1636C>T (p.Pro546Ser)
n.1571C>T
c.1639C>T (p.Pro547Ser)
c.5960C>T
c.6418C>T (p.Pro2140Ser)
c.705-630C>T (n.705-630C>T)
c.3740C>T
c.6142C>T (p.Pro2048Ser)
c.5854C>T (p.Pro1952Ser)
c.3382C>T (p.Pro1128Ser)
19g.35732968C>ACA405428401KMT2Bn.725C>A
c.6353C>A (p.Pro2118His)
c.3960C>A (n.3960C>A)
c.1637C>A (p.Pro546His)
n.1572C>A
c.1640C>A (p.Pro547His)
c.5961C>A
c.6419C>A (p.Pro2140His)
c.705-629C>A (n.705-629C>A)
c.3741C>A
c.6143C>A (p.Pro2048His)
c.5855C>A (p.Pro1952His)
c.3383C>A (p.Pro1128His)
19g.35732968C>GCA405428403KMT2Bn.725C>G
c.6353C>G (p.Pro2118Arg)
c.3960C>G (n.3960C>G)
c.1637C>G (p.Pro546Arg)
n.1572C>G
c.1640C>G (p.Pro547Arg)
c.5961C>G
c.6419C>G (p.Pro2140Arg)
c.705-629C>G (n.705-629C>G)
c.3741C>G
c.6143C>G (p.Pro2048Arg)
c.5855C>G (p.Pro1952Arg)
c.3383C>G (p.Pro1128Arg)
19g.35732968C>TCA405428406KMT2Bn.725C>T
c.6353C>T (p.Pro2118Leu)
c.3960C>T (n.3960C>T)
c.1637C>T (p.Pro546Leu)
n.1572C>T
c.1640C>T (p.Pro547Leu)
c.5961C>T
c.6419C>T (p.Pro2140Leu)
c.705-629C>T (n.705-629C>T)
c.3741C>T
c.6143C>T (p.Pro2048Leu)
c.5855C>T (p.Pro1952Leu)
c.3383C>T (p.Pro1128Leu)
19g.35732969T>ACA507308892KMT2Bn.726T>A
c.6354T>A (p.Pro2118=)
c.3961T>A (n.3961T>A)
c.1638T>A (p.Pro546=)
n.1573T>A
c.1641T>A (p.Pro547=)
c.5962T>A
c.6420T>A (p.Pro2140=)
c.705-628T>A (n.705-628T>A)
c.3742T>A
c.6144T>A (p.Pro2048=)
c.5856T>A (p.Pro1952=)
c.3384T>A (p.Pro1128=)
gnomAD v4
19g.35732969T>CCA507308894KMT2Bn.726T>C
c.6354T>C (p.Pro2118=)
c.3961T>C (n.3961T>C)
c.1638T>C (p.Pro546=)
n.1573T>C
c.1641T>C (p.Pro547=)
c.5962T>C
c.6420T>C (p.Pro2140=)
c.705-628T>C (n.705-628T>C)
c.3742T>C
c.6144T>C (p.Pro2048=)
c.5856T>C (p.Pro1952=)
c.3384T>C (p.Pro1128=)
dbSNP gnomAD v4
19g.35732969T>GCA507308897KMT2Bn.726T>G
c.6354T>G (p.Pro2118=)
c.3961T>G (n.3961T>G)
c.1638T>G (p.Pro546=)
n.1573T>G
c.1641T>G (p.Pro547=)
c.5962T>G
c.6420T>G (p.Pro2140=)
c.705-628T>G (n.705-628T>G)
c.3742T>G
c.6144T>G (p.Pro2048=)
c.5856T>G (p.Pro1952=)
c.3384T>G (p.Pro1128=)
19g.35732969T=CA2333794587KMT2Bn.726T=
c.6354T= (p.Pro2118=)
c.3961T= (n.3961T=)
c.1638T= (p.Pro546=)
n.1573T=
c.1641T= (p.Pro547=)
c.5962T=
c.6420T= (p.Pro2140=)
c.705-628T= (n.705-628T=)
c.3742T=
c.6144T= (p.Pro2048=)
c.5856T= (p.Pro1952=)
c.3384T= (p.Pro1128=)
19g.35732970C>ACA405428410KMT2Bn.727C>A
c.6355C>A (p.Pro2119Thr)
c.3962C>A (n.3962C>A)
c.1639C>A (p.Pro547Thr)
n.1574C>A
c.1642C>A (p.Pro548Thr)
c.5963C>A
c.6421C>A (p.Pro2141Thr)
c.705-627C>A (n.705-627C>A)
c.3743C>A
c.6145C>A (p.Pro2049Thr)
c.5857C>A (p.Pro1953Thr)
c.3385C>A (p.Pro1129Thr)
gnomAD v4
19g.35732970C=CA2333794588KMT2Bn.727C=
c.6355C= (p.Pro2119=)
c.3962C= (n.3962C=)
c.1639C= (p.Pro547=)
n.1574C=
c.1642C= (p.Pro548=)
c.5963C=
c.6421C= (p.Pro2141=)
c.705-627C= (n.705-627C=)
c.3743C=
c.6145C= (p.Pro2049=)
c.5857C= (p.Pro1953=)
c.3385C= (p.Pro1129=)
19g.35732970C>GCA405428412KMT2Bn.727C>G
c.6355C>G (p.Pro2119Ala)
c.3962C>G (n.3962C>G)
c.1639C>G (p.Pro547Ala)
n.1574C>G
c.1642C>G (p.Pro548Ala)
c.5963C>G
c.6421C>G (p.Pro2141Ala)
c.705-627C>G (n.705-627C>G)
c.3743C>G
c.6145C>G (p.Pro2049Ala)
c.5857C>G (p.Pro1953Ala)
c.3385C>G (p.Pro1129Ala)
dbSNP gnomAD v3 gnomAD v4
19g.35732970C>TCA405428414KMT2Bn.727C>T
c.6355C>T (p.Pro2119Ser)
c.3962C>T (n.3962C>T)
c.1639C>T (p.Pro547Ser)
n.1574C>T
c.1642C>T (p.Pro548Ser)
c.5963C>T
c.6421C>T (p.Pro2141Ser)
c.705-627C>T (n.705-627C>T)
c.3743C>T
c.6145C>T (p.Pro2049Ser)
c.5857C>T (p.Pro1953Ser)
c.3385C>T (p.Pro1129Ser)
gnomAD v4
19g.35732973delCA2584575163KMT2Bn.730del
c.6358del (p.Leu2120TrpfsTer11)
c.3965del (n.3965del)
c.1642del (p.Leu548TrpfsTer11)
n.1577del
c.1645del (p.Leu549TrpfsTer11)
c.5966del
c.6424del (p.Leu2142TrpfsTer11)
c.705-624del (n.705-624del)
c.3746del
c.6148del (p.Leu2050TrpfsTer11)
c.5860del (p.Leu1954TrpfsTer11)
c.3388del (p.Leu1130TrpfsTer11)
gnomAD v4
19g.35732971C>ACA405428424KMT2Bn.728C>A
c.6356C>A (p.Pro2119His)
c.3963C>A (n.3963C>A)
c.1640C>A (p.Pro547His)
n.1575C>A
c.1643C>A (p.Pro548His)
c.5964C>A
c.6422C>A (p.Pro2141His)
c.705-626C>A (n.705-626C>A)
c.3744C>A
c.6146C>A (p.Pro2049His)
c.5858C>A (p.Pro1953His)
c.3386C>A (p.Pro1129His)
gnomAD v4
19g.35732971C=CA2333794589KMT2Bn.728C=
c.6356C= (p.Pro2119=)
c.3963C= (n.3963C=)
c.1640C= (p.Pro547=)
n.1575C=
c.1643C= (p.Pro548=)
c.5964C=
c.6422C= (p.Pro2141=)
c.705-626C= (n.705-626C=)
c.3744C=
c.6146C= (p.Pro2049=)
c.5858C= (p.Pro1953=)
c.3386C= (p.Pro1129=)
19g.35732971C>GCA405428419KMT2Bn.728C>G
c.6356C>G (p.Pro2119Arg)
c.3963C>G (n.3963C>G)
c.1640C>G (p.Pro547Arg)
n.1575C>G
c.1643C>G (p.Pro548Arg)
c.5964C>G
c.6422C>G (p.Pro2141Arg)
c.705-626C>G (n.705-626C>G)
c.3744C>G
c.6146C>G (p.Pro2049Arg)
c.5858C>G (p.Pro1953Arg)
c.3386C>G (p.Pro1129Arg)
dbSNP
19g.35732971C>TCA405428420KMT2Bn.728C>T
c.6356C>T (p.Pro2119Leu)
c.3963C>T (n.3963C>T)
c.1640C>T (p.Pro547Leu)
n.1575C>T
c.1643C>T (p.Pro548Leu)
c.5964C>T
c.6422C>T (p.Pro2141Leu)
c.705-626C>T (n.705-626C>T)
c.3744C>T
c.6146C>T (p.Pro2049Leu)
c.5858C>T (p.Pro1953Leu)
c.3386C>T (p.Pro1129Leu)
19g.35732972C>ACA507308902KMT2Bn.729C>A
c.6357C>A (p.Pro2119=)
c.3964C>A (n.3964C>A)
c.1641C>A (p.Pro547=)
n.1576C>A
c.1644C>A (p.Pro548=)
c.5965C>A
c.6423C>A (p.Pro2141=)
c.705-625C>A (n.705-625C>A)
c.3745C>A
c.6147C>A (p.Pro2049=)
c.5859C>A (p.Pro1953=)
c.3387C>A (p.Pro1129=)
gnomAD v4
19g.35732972C>GCA507308904KMT2Bn.729C>G
c.6357C>G (p.Pro2119=)
c.3964C>G (n.3964C>G)
c.1641C>G (p.Pro547=)
n.1576C>G
c.1644C>G (p.Pro548=)
c.5965C>G
c.6423C>G (p.Pro2141=)
c.705-625C>G (n.705-625C>G)
c.3745C>G
c.6147C>G (p.Pro2049=)
c.5859C>G (p.Pro1953=)
c.3387C>G (p.Pro1129=)
19g.35732972C>TCA507308905KMT2Bn.729C>T
c.6357C>T (p.Pro2119=)
c.3964C>T (n.3964C>T)
c.1641C>T (p.Pro547=)
n.1576C>T
c.1644C>T (p.Pro548=)
c.5965C>T
c.6423C>T (p.Pro2141=)
c.705-625C>T (n.705-625C>T)
c.3745C>T
c.6147C>T (p.Pro2049=)
c.5859C>T (p.Pro1953=)
c.3387C>T (p.Pro1129=)
19g.35732973C>ACA405428427KMT2Bn.730C>A
c.6358C>A (p.Leu2120Met)
c.3965C>A (n.3965C>A)
c.1642C>A (p.Leu548Met)
n.1577C>A
c.1645C>A (p.Leu549Met)
c.5966C>A
c.6424C>A (p.Leu2142Met)
c.705-624C>A (n.705-624C>A)
c.3746C>A
c.6148C>A (p.Leu2050Met)
c.5860C>A (p.Leu1954Met)
c.3388C>A (p.Leu1130Met)
gnomAD v4
19g.35732973C=CA2333794590KMT2Bn.730C=
c.6358C= (p.Leu2120=)
c.3965C= (n.3965C=)
c.1642C= (p.Leu548=)
n.1577C=
c.1645C= (p.Leu549=)
c.5966C=
c.6424C= (p.Leu2142=)
c.705-624C= (n.705-624C=)
c.3746C=
c.6148C= (p.Leu2050=)
c.5860C= (p.Leu1954=)
c.3388C= (p.Leu1130=)
19g.35732973C>GCA405428429KMT2Bn.730C>G
c.6358C>G (p.Leu2120Val)
c.3965C>G (n.3965C>G)
c.1642C>G (p.Leu548Val)
n.1577C>G
c.1645C>G (p.Leu549Val)
c.5966C>G
c.6424C>G (p.Leu2142Val)
c.705-624C>G (n.705-624C>G)
c.3746C>G
c.6148C>G (p.Leu2050Val)
c.5860C>G (p.Leu1954Val)
c.3388C>G (p.Leu1130Val)
gnomAD v4
19g.35732973C>TCA507308908KMT2Bn.730C>T
c.6358C>T (p.Leu2120=)
c.3965C>T (n.3965C>T)
c.1642C>T (p.Leu548=)
n.1577C>T
c.1645C>T (p.Leu549=)
c.5966C>T
c.6424C>T (p.Leu2142=)
c.705-624C>T (n.705-624C>T)
c.3746C>T
c.6148C>T (p.Leu2050=)
c.5860C>T (p.Leu1954=)
c.3388C>T (p.Leu1130=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35732974T>ACA405428431KMT2Bn.731T>A
c.6359T>A (p.Leu2120Gln)
c.3966T>A (n.3966T>A)
c.1643T>A (p.Leu548Gln)
n.1578T>A
c.1646T>A (p.Leu549Gln)
c.5967T>A
c.6425T>A (p.Leu2142Gln)
c.705-623T>A (n.705-623T>A)
c.3747T>A
c.6149T>A (p.Leu2050Gln)
c.5861T>A (p.Leu1954Gln)
c.3389T>A (p.Leu1130Gln)
gnomAD v4
19g.35732974T>CCA405428434KMT2Bn.731T>C
c.6359T>C (p.Leu2120Pro)
c.3966T>C (n.3966T>C)
c.1643T>C (p.Leu548Pro)
n.1578T>C
c.1646T>C (p.Leu549Pro)
c.5967T>C
c.6425T>C (p.Leu2142Pro)
c.705-623T>C (n.705-623T>C)
c.3747T>C
c.6149T>C (p.Leu2050Pro)
c.5861T>C (p.Leu1954Pro)
c.3389T>C (p.Leu1130Pro)
ClinVar gnomAD v4
19g.35732974T>GCA405428437KMT2Bn.731T>G
c.6359T>G (p.Leu2120Arg)
c.3966T>G (n.3966T>G)
c.1643T>G (p.Leu548Arg)
n.1578T>G
c.1646T>G (p.Leu549Arg)
c.5967T>G
c.6425T>G (p.Leu2142Arg)
c.705-623T>G (n.705-623T>G)
c.3747T>G
c.6149T>G (p.Leu2050Arg)
c.5861T>G (p.Leu1954Arg)
c.3389T>G (p.Leu1130Arg)
19g.35732975G>ACA507308912KMT2Bn.732G>A
c.6360G>A (p.Leu2120=)
c.3967G>A (n.3967G>A)
c.1644G>A (p.Leu548=)
n.1579G>A
c.1647G>A (p.Leu549=)
c.5968G>A
c.6426G>A (p.Leu2142=)
c.705-622G>A (n.705-622G>A)
c.3748G>A
c.6150G>A (p.Leu2050=)
c.5862G>A (p.Leu1954=)
c.3390G>A (p.Leu1130=)
gnomAD v4
19g.35732975G>CCA507308913KMT2Bn.732G>C
c.6360G>C (p.Leu2120=)
c.3967G>C (n.3967G>C)
c.1644G>C (p.Leu548=)
n.1579G>C
c.1647G>C (p.Leu549=)
c.5968G>C
c.6426G>C (p.Leu2142=)
c.705-622G>C (n.705-622G>C)
c.3748G>C
c.6150G>C (p.Leu2050=)
c.5862G>C (p.Leu1954=)
c.3390G>C (p.Leu1130=)
19g.35732975G>TCA507308914KMT2Bn.732G>T
c.6360G>T (p.Leu2120=)
c.3967G>T (n.3967G>T)
c.1644G>T (p.Leu548=)
n.1579G>T
c.1647G>T (p.Leu549=)
c.5968G>T
c.6426G>T (p.Leu2142=)
c.705-622G>T (n.705-622G>T)
c.3748G>T
c.6150G>T (p.Leu2050=)
c.5862G>T (p.Leu1954=)
c.3390G>T (p.Leu1130=)
19g.35732976G>ACA405428440KMT2Bn.733G>A
c.6361G>A (p.Ala2121Thr)
c.3968G>A (n.3968G>A)
c.1645G>A (p.Ala549Thr)
n.1580G>A
c.1648G>A (p.Ala550Thr)
c.5969G>A
c.6427G>A (p.Ala2143Thr)
c.705-621G>A (n.705-621G>A)
c.3749G>A
c.6151G>A (p.Ala2051Thr)
c.5863G>A (p.Ala1955Thr)
c.3391G>A (p.Ala1131Thr)
dbSNP gnomAD v2
19g.35732976G>CCA9385687KMT2Bn.733G>C
c.6361G>C (p.Ala2121Pro)
c.3968G>C (n.3968G>C)
c.1645G>C (p.Ala549Pro)
n.1580G>C
c.1648G>C (p.Ala550Pro)
c.5969G>C
c.6427G>C (p.Ala2143Pro)
c.705-621G>C (n.705-621G>C)
c.3749G>C
c.6151G>C (p.Ala2051Pro)
c.5863G>C (p.Ala1955Pro)
c.3391G>C (p.Ala1131Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35732976G=CA2333794591KMT2Bn.733G=
c.6361G= (p.Ala2121=)
c.3968G= (n.3968G=)
c.1645G= (p.Ala549=)
n.1580G=
c.1648G= (p.Ala550=)
c.5969G=
c.6427G= (p.Ala2143=)
c.705-621G= (n.705-621G=)
c.3749G=
c.6151G= (p.Ala2051=)
c.5863G= (p.Ala1955=)
c.3391G= (p.Ala1131=)
19g.35732976G>TCA405428445KMT2Bn.733G>T
c.6361G>T (p.Ala2121Ser)
c.3968G>T (n.3968G>T)
c.1645G>T (p.Ala549Ser)
n.1580G>T
c.1648G>T (p.Ala550Ser)
c.5969G>T
c.6427G>T (p.Ala2143Ser)
c.705-621G>T (n.705-621G>T)
c.3749G>T
c.6151G>T (p.Ala2051Ser)
c.5863G>T (p.Ala1955Ser)
c.3391G>T (p.Ala1131Ser)
gnomAD v4
19g.35732977C>ACA307796795KMT2Bn.734C>A
c.6362C>A (p.Ala2121Asp)
c.3969C>A (n.3969C>A)
c.1646C>A (p.Ala549Asp)
n.1581C>A
c.1649C>A (p.Ala550Asp)
c.5970C>A
c.6428C>A (p.Ala2143Asp)
c.705-620C>A (n.705-620C>A)
c.3750C>A
c.6152C>A (p.Ala2051Asp)
c.5864C>A (p.Ala1955Asp)
c.3392C>A (p.Ala1131Asp)
dbSNP gnomAD v4
19g.35732977C=CA2333794592KMT2Bn.734C=
c.6362C= (p.Ala2121=)
c.3969C= (n.3969C=)
c.1646C= (p.Ala549=)
n.1581C=
c.1649C= (p.Ala550=)
c.5970C=
c.6428C= (p.Ala2143=)
c.705-620C= (n.705-620C=)
c.3750C=
c.6152C= (p.Ala2051=)
c.5864C= (p.Ala1955=)
c.3392C= (p.Ala1131=)
19g.35732977C>GCA405428447KMT2Bn.734C>G
c.6362C>G (p.Ala2121Gly)
c.3969C>G (n.3969C>G)
c.1646C>G (p.Ala549Gly)
n.1581C>G
c.1649C>G (p.Ala550Gly)
c.5970C>G
c.6428C>G (p.Ala2143Gly)
c.705-620C>G (n.705-620C>G)
c.3750C>G
c.6152C>G (p.Ala2051Gly)
c.5864C>G (p.Ala1955Gly)
c.3392C>G (p.Ala1131Gly)
gnomAD v4
19g.35732977C>TCA405428452KMT2Bn.734C>T
c.6362C>T (p.Ala2121Val)
c.3969C>T (n.3969C>T)
c.1646C>T (p.Ala549Val)
n.1581C>T
c.1649C>T (p.Ala550Val)
c.5970C>T
c.6428C>T (p.Ala2143Val)
c.705-620C>T (n.705-620C>T)
c.3750C>T
c.6152C>T (p.Ala2051Val)
c.5864C>T (p.Ala1955Val)
c.3392C>T (p.Ala1131Val)
dbSNP gnomAD v4
19g.35732978T>ACA507308920KMT2Bn.735T>A
c.6363T>A (p.Ala2121=)
c.3970T>A (n.3970T>A)
c.1647T>A (p.Ala549=)
n.1582T>A
c.1650T>A (p.Ala550=)
c.5971T>A
c.6429T>A (p.Ala2143=)
c.705-619T>A (n.705-619T>A)
c.3751T>A
c.6153T>A (p.Ala2051=)
c.5865T>A (p.Ala1955=)
c.3393T>A (p.Ala1131=)
19g.35732978T>CCA507308922KMT2Bn.735T>C
c.6363T>C (p.Ala2121=)
c.3970T>C (n.3970T>C)
c.1647T>C (p.Ala549=)
n.1582T>C
c.1650T>C (p.Ala550=)
c.5971T>C
c.6429T>C (p.Ala2143=)
c.705-619T>C (n.705-619T>C)
c.3751T>C
c.6153T>C (p.Ala2051=)
c.5865T>C (p.Ala1955=)
c.3393T>C (p.Ala1131=)
dbSNP gnomAD v2 gnomAD v4
19g.35732978T>GCA507308924KMT2Bn.735T>G
c.6363T>G (p.Ala2121=)
c.3970T>G (n.3970T>G)
c.1647T>G (p.Ala549=)
n.1582T>G
c.1650T>G (p.Ala550=)
c.5971T>G
c.6429T>G (p.Ala2143=)
c.705-619T>G (n.705-619T>G)
c.3751T>G
c.6153T>G (p.Ala2051=)
c.5865T>G (p.Ala1955=)
c.3393T>G (p.Ala1131=)
19g.35732978T=CA2333794593KMT2Bn.735T=
c.6363T= (p.Ala2121=)
c.3970T= (n.3970T=)
c.1647T= (p.Ala549=)
n.1582T=
c.1650T= (p.Ala550=)
c.5971T=
c.6429T= (p.Ala2143=)
c.705-619T= (n.705-619T=)
c.3751T=
c.6153T= (p.Ala2051=)
c.5865T= (p.Ala1955=)
c.3393T= (p.Ala1131=)
19g.35732979A=CA2333794594KMT2Bn.736A=
c.6364A= (p.Asn2122=)
c.3971A= (n.3971A=)
c.1648A= (p.Asn550=)
n.1583A=
c.1651A= (p.Asn551=)
c.5972A=
c.6430A= (p.Asn2144=)
c.705-618A= (n.705-618A=)
c.3752A=
c.6154A= (p.Asn2052=)
c.5866A= (p.Asn1956=)
c.3394A= (p.Asn1132=)
19g.35732979A>CCA405428458KMT2Bn.736A>C
c.6364A>C (p.Asn2122His)
c.3971A>C (n.3971A>C)
c.1648A>C (p.Asn550His)
n.1583A>C
c.1651A>C (p.Asn551His)
c.5972A>C
c.6430A>C (p.Asn2144His)
c.705-618A>C (n.705-618A>C)
c.3752A>C
c.6154A>C (p.Asn2052His)
c.5866A>C (p.Asn1956His)
c.3394A>C (p.Asn1132His)
19g.35732979A>GCA405428456KMT2Bn.736A>G
c.6364A>G (p.Asn2122Asp)
c.3971A>G (n.3971A>G)
c.1648A>G (p.Asn550Asp)
n.1583A>G
c.1651A>G (p.Asn551Asp)
c.5972A>G
c.6430A>G (p.Asn2144Asp)
c.705-618A>G (n.705-618A>G)
c.3752A>G
c.6154A>G (p.Asn2052Asp)
c.5866A>G (p.Asn1956Asp)
c.3394A>G (p.Asn1132Asp)
dbSNP gnomAD v4
19g.35732979A>TCA405428454KMT2Bn.736A>T
c.6364A>T (p.Asn2122Tyr)
c.3971A>T (n.3971A>T)
c.1648A>T (p.Asn550Tyr)
n.1583A>T
c.1651A>T (p.Asn551Tyr)
c.5972A>T
c.6430A>T (p.Asn2144Tyr)
c.705-618A>T (n.705-618A>T)
c.3752A>T
c.6154A>T (p.Asn2052Tyr)
c.5866A>T (p.Asn1956Tyr)
c.3394A>T (p.Asn1132Tyr)
19g.35732980A>CCA405428461KMT2Bn.737A>C
c.6365A>C (p.Asn2122Thr)
c.3972A>C (n.3972A>C)
c.1649A>C (p.Asn550Thr)
n.1584A>C
c.1652A>C (p.Asn551Thr)
c.5973A>C
c.6431A>C (p.Asn2144Thr)
c.705-617A>C (n.705-617A>C)
c.3753A>C
c.6155A>C (p.Asn2052Thr)
c.5867A>C (p.Asn1956Thr)
c.3395A>C (p.Asn1132Thr)
19g.35732980A>GCA405428462KMT2Bn.737A>G
c.6365A>G (p.Asn2122Ser)
c.3972A>G (n.3972A>G)
c.1649A>G (p.Asn550Ser)
n.1584A>G
c.1652A>G (p.Asn551Ser)
c.5973A>G
c.6431A>G (p.Asn2144Ser)
c.705-617A>G (n.705-617A>G)
c.3753A>G
c.6155A>G (p.Asn2052Ser)
c.5867A>G (p.Asn1956Ser)
c.3395A>G (p.Asn1132Ser)
19g.35732980A>TCA405428465KMT2Bn.737A>T
c.6365A>T (p.Asn2122Ile)
c.3972A>T (n.3972A>T)
c.1649A>T (p.Asn550Ile)
n.1584A>T
c.1652A>T (p.Asn551Ile)
c.5973A>T
c.6431A>T (p.Asn2144Ile)
c.705-617A>T (n.705-617A>T)
c.3753A>T
c.6155A>T (p.Asn2052Ile)
c.5867A>T (p.Asn1956Ile)
c.3395A>T (p.Asn1132Ile)
19g.35732981T>ACA405428466KMT2Bn.738T>A
c.6366T>A (p.Asn2122Lys)
c.3973T>A (n.3973T>A)
c.1650T>A (p.Asn550Lys)
n.1585T>A
c.1653T>A (p.Asn551Lys)
c.5974T>A
c.6432T>A (p.Asn2144Lys)
c.705-616T>A (n.705-616T>A)
c.3754T>A
c.6156T>A (p.Asn2052Lys)
c.5868T>A (p.Asn1956Lys)
c.3396T>A (p.Asn1132Lys)
19g.35732981T>CCA507308934KMT2Bn.738T>C
c.6366T>C (p.Asn2122=)
c.3973T>C (n.3973T>C)
c.1650T>C (p.Asn550=)
n.1585T>C
c.1653T>C (p.Asn551=)
c.5974T>C
c.6432T>C (p.Asn2144=)
c.705-616T>C (n.705-616T>C)
c.3754T>C
c.6156T>C (p.Asn2052=)
c.5868T>C (p.Asn1956=)
c.3396T>C (p.Asn1132=)
gnomAD v4
19g.35732981T>GCA405428467KMT2Bn.738T>G
c.6366T>G (p.Asn2122Lys)
c.3973T>G (n.3973T>G)
c.1650T>G (p.Asn550Lys)
n.1585T>G
c.1653T>G (p.Asn551Lys)
c.5974T>G
c.6432T>G (p.Asn2144Lys)
c.705-616T>G (n.705-616T>G)
c.3754T>G
c.6156T>G (p.Asn2052Lys)
c.5868T>G (p.Asn1956Lys)
c.3396T>G (p.Asn1132Lys)
19g.35732982G>ACA405428473KMT2Bn.739G>A
c.6367G>A (p.Gly2123Ser)
c.3974G>A (n.3974G>A)
c.1651G>A (p.Gly551Ser)
n.1586G>A
c.1654G>A (p.Gly552Ser)
c.5975G>A
c.6433G>A (p.Gly2145Ser)
c.705-615G>A (n.705-615G>A)
c.3755G>A
c.6157G>A (p.Gly2053Ser)
c.5869G>A (p.Gly1957Ser)
c.3397G>A (p.Gly1133Ser)
dbSNP gnomAD v2
19g.35732982G>CCA405428471KMT2Bn.739G>C
c.6367G>C (p.Gly2123Arg)
c.3974G>C (n.3974G>C)
c.1651G>C (p.Gly551Arg)
n.1586G>C
c.1654G>C (p.Gly552Arg)
c.5975G>C
c.6433G>C (p.Gly2145Arg)
c.705-615G>C (n.705-615G>C)
c.3755G>C
c.6157G>C (p.Gly2053Arg)
c.5869G>C (p.Gly1957Arg)
c.3397G>C (p.Gly1133Arg)
19g.35732982G=CA2333794595KMT2Bn.739G=
c.6367G= (p.Gly2123=)
c.3974G= (n.3974G=)
c.1651G= (p.Gly551=)
n.1586G=
c.1654G= (p.Gly552=)
c.5975G=
c.6433G= (p.Gly2145=)
c.705-615G= (n.705-615G=)
c.3755G=
c.6157G= (p.Gly2053=)
c.5869G= (p.Gly1957=)
c.3397G= (p.Gly1133=)
19g.35732982G>TCA405428469KMT2Bn.739G>T
c.6367G>T (p.Gly2123Cys)
c.3974G>T (n.3974G>T)
c.1651G>T (p.Gly551Cys)
n.1586G>T
c.1654G>T (p.Gly552Cys)
c.5975G>T
c.6433G>T (p.Gly2145Cys)
c.705-615G>T (n.705-615G>T)
c.3755G>T
c.6157G>T (p.Gly2053Cys)
c.5869G>T (p.Gly1957Cys)
c.3397G>T (p.Gly1133Cys)
gnomAD v4
19g.35732983G>ACA405428476KMT2Bn.740G>A
c.6368G>A (p.Gly2123Asp)
c.3975G>A (n.3975G>A)
c.1652G>A (p.Gly551Asp)
n.1587G>A
c.1655G>A (p.Gly552Asp)
c.5976G>A
c.6434G>A (p.Gly2145Asp)
c.705-614G>A (n.705-614G>A)
c.3756G>A
c.6158G>A (p.Gly2053Asp)
c.5870G>A (p.Gly1957Asp)
c.3398G>A (p.Gly1133Asp)
gnomAD v4
19g.35732983G>CCA405428479KMT2Bn.740G>C
c.6368G>C (p.Gly2123Ala)
c.3975G>C (n.3975G>C)
c.1652G>C (p.Gly551Ala)
n.1587G>C
c.1655G>C (p.Gly552Ala)
c.5976G>C
c.6434G>C (p.Gly2145Ala)
c.705-614G>C (n.705-614G>C)
c.3756G>C
c.6158G>C (p.Gly2053Ala)
c.5870G>C (p.Gly1957Ala)
c.3398G>C (p.Gly1133Ala)
19g.35732983G=CA2333794596KMT2Bn.740G=
c.6368G= (p.Gly2123=)
c.3975G= (n.3975G=)
c.1652G= (p.Gly551=)
n.1587G=
c.1655G= (p.Gly552=)
c.5976G=
c.6434G= (p.Gly2145=)
c.705-614G= (n.705-614G=)
c.3756G=
c.6158G= (p.Gly2053=)
c.5870G= (p.Gly1957=)
c.3398G= (p.Gly1133=)
19g.35732983G>TCA405428480KMT2Bn.740G>T
c.6368G>T (p.Gly2123Val)
c.3975G>T (n.3975G>T)
c.1652G>T (p.Gly551Val)
n.1587G>T
c.1655G>T (p.Gly552Val)
c.5976G>T
c.6434G>T (p.Gly2145Val)
c.705-614G>T (n.705-614G>T)
c.3756G>T
c.6158G>T (p.Gly2053Val)
c.5870G>T (p.Gly1957Val)
c.3398G>T (p.Gly1133Val)
dbSNP gnomAD v2 gnomAD v4
19g.35732984C>ACA507308943KMT2Bn.741C>A
c.6369C>A (p.Gly2123=)
c.3976C>A (n.3976C>A)
c.1653C>A (p.Gly551=)
n.1588C>A
c.1656C>A (p.Gly552=)
c.5977C>A
c.6435C>A (p.Gly2145=)
c.705-613C>A (n.705-613C>A)
c.3757C>A
c.6159C>A (p.Gly2053=)
c.5871C>A (p.Gly1957=)
c.3399C>A (p.Gly1133=)
gnomAD v4
19g.35732984C=CA2333794597KMT2Bn.741C=
c.6369C= (p.Gly2123=)
c.3976C= (n.3976C=)
c.1653C= (p.Gly551=)
n.1588C=
c.1656C= (p.Gly552=)
c.5977C=
c.6435C= (p.Gly2145=)
c.705-613C= (n.705-613C=)
c.3757C=
c.6159C= (p.Gly2053=)
c.5871C= (p.Gly1957=)
c.3399C= (p.Gly1133=)
19g.35732984C>GCA507308945KMT2Bn.741C>G
c.6369C>G (p.Gly2123=)
c.3976C>G (n.3976C>G)
c.1653C>G (p.Gly551=)
n.1588C>G
c.1656C>G (p.Gly552=)
c.5977C>G
c.6435C>G (p.Gly2145=)
c.705-613C>G (n.705-613C>G)
c.3757C>G
c.6159C>G (p.Gly2053=)
c.5871C>G (p.Gly1957=)
c.3399C>G (p.Gly1133=)
19g.35732984C>TCA507308946KMT2Bn.741C>T
c.6369C>T (p.Gly2123=)
c.3976C>T (n.3976C>T)
c.1653C>T (p.Gly551=)
n.1588C>T
c.1656C>T (p.Gly552=)
c.5977C>T
c.6435C>T (p.Gly2145=)
c.705-613C>T (n.705-613C>T)
c.3757C>T
c.6159C>T (p.Gly2053=)
c.5871C>T (p.Gly1957=)
c.3399C>T (p.Gly1133=)
ClinVar dbSNP
19g.35732985A>CCA405428482KMT2Bn.742A>C
c.6370A>C (p.Ser2124Arg)
c.3977A>C (n.3977A>C)
c.1654A>C (p.Ser552Arg)
n.1589A>C
c.1657A>C (p.Ser553Arg)
c.5978A>C
c.6436A>C (p.Ser2146Arg)
c.705-612A>C (n.705-612A>C)
c.3758A>C
c.6160A>C (p.Ser2054Arg)
c.5872A>C (p.Ser1958Arg)
c.3400A>C (p.Ser1134Arg)
19g.35732985A>GCA405428485KMT2Bn.742A>G
c.6370A>G (p.Ser2124Gly)
c.3977A>G (n.3977A>G)
c.1654A>G (p.Ser552Gly)
n.1589A>G
c.1657A>G (p.Ser553Gly)
c.5978A>G
c.6436A>G (p.Ser2146Gly)
c.705-612A>G (n.705-612A>G)
c.3758A>G
c.6160A>G (p.Ser2054Gly)
c.5872A>G (p.Ser1958Gly)
c.3400A>G (p.Ser1134Gly)
19g.35732985A>TCA405428487KMT2Bn.742A>T
c.6370A>T (p.Ser2124Cys)
c.3977A>T (n.3977A>T)
c.1654A>T (p.Ser552Cys)
n.1589A>T
c.1657A>T (p.Ser553Cys)
c.5978A>T
c.6436A>T (p.Ser2146Cys)
c.705-612A>T (n.705-612A>T)
c.3758A>T
c.6160A>T (p.Ser2054Cys)
c.5872A>T (p.Ser1958Cys)
c.3400A>T (p.Ser1134Cys)
19g.35732986G>ACA405428489KMT2Bn.743G>A
c.6371G>A (p.Ser2124Asn)
c.3978G>A (n.3978G>A)
c.1655G>A (p.Ser552Asn)
n.1590G>A
c.1658G>A (p.Ser553Asn)
c.5979G>A
c.6437G>A (p.Ser2146Asn)
c.705-611G>A (n.705-611G>A)
c.3759G>A
c.6161G>A (p.Ser2054Asn)
c.5873G>A (p.Ser1958Asn)
c.3401G>A (p.Ser1134Asn)
dbSNP gnomAD v2 gnomAD v4
19g.35732986G>CCA405428492KMT2Bn.743G>C
c.6371G>C (p.Ser2124Thr)
c.3978G>C (n.3978G>C)
c.1655G>C (p.Ser552Thr)
n.1590G>C
c.1658G>C (p.Ser553Thr)
c.5979G>C
c.6437G>C (p.Ser2146Thr)
c.705-611G>C (n.705-611G>C)
c.3759G>C
c.6161G>C (p.Ser2054Thr)
c.5873G>C (p.Ser1958Thr)
c.3401G>C (p.Ser1134Thr)
19g.35732986G=CA2333794598KMT2Bn.743G=
c.6371G= (p.Ser2124=)
c.3978G= (n.3978G=)
c.1655G= (p.Ser552=)
n.1590G=
c.1658G= (p.Ser553=)
c.5979G=
c.6437G= (p.Ser2146=)
c.705-611G= (n.705-611G=)
c.3759G=
c.6161G= (p.Ser2054=)
c.5873G= (p.Ser1958=)
c.3401G= (p.Ser1134=)
19g.35732986G>TCA405428491KMT2Bn.743G>T
c.6371G>T (p.Ser2124Ile)
c.3978G>T (n.3978G>T)
c.1655G>T (p.Ser552Ile)
n.1590G>T
c.1658G>T (p.Ser553Ile)
c.5979G>T
c.6437G>T (p.Ser2146Ile)
c.705-611G>T (n.705-611G>T)
c.3759G>T
c.6161G>T (p.Ser2054Ile)
c.5873G>T (p.Ser1958Ile)
c.3401G>T (p.Ser1134Ile)
gnomAD v4
19g.35732987C>ACA405428496KMT2Bn.744C>A
c.6372C>A (p.Ser2124Arg)
c.3979C>A (n.3979C>A)
c.1656C>A (p.Ser552Arg)
n.1591C>A
c.1659C>A (p.Ser553Arg)
c.5980C>A
c.6438C>A (p.Ser2146Arg)
c.705-610C>A (n.705-610C>A)
c.3760C>A
c.6162C>A (p.Ser2054Arg)
c.5874C>A (p.Ser1958Arg)
c.3402C>A (p.Ser1134Arg)
gnomAD v4
19g.35732987C>GCA405428499KMT2Bn.744C>G
c.6372C>G (p.Ser2124Arg)
c.3979C>G (n.3979C>G)
c.1656C>G (p.Ser552Arg)
n.1591C>G
c.1659C>G (p.Ser553Arg)
c.5980C>G
c.6438C>G (p.Ser2146Arg)
c.705-610C>G (n.705-610C>G)
c.3760C>G
c.6162C>G (p.Ser2054Arg)
c.5874C>G (p.Ser1958Arg)
c.3402C>G (p.Ser1134Arg)
19g.35732987C>TCA507308953KMT2Bn.744C>T
c.6372C>T (p.Ser2124=)
c.3979C>T (n.3979C>T)
c.1656C>T (p.Ser552=)
n.1591C>T
c.1659C>T (p.Ser553=)
c.5980C>T
c.6438C>T (p.Ser2146=)
c.705-610C>T (n.705-610C>T)
c.3760C>T
c.6162C>T (p.Ser2054=)
c.5874C>T (p.Ser1958=)
c.3402C>T (p.Ser1134=)
gnomAD v4
19g.35732988C>ACA405428501KMT2Bn.745C>A
c.6373C>A (p.Gln2125Lys)
c.3980C>A (n.3980C>A)
c.1657C>A (p.Gln553Lys)
n.1592C>A
c.1660C>A (p.Gln554Lys)
c.5981C>A
c.6439C>A (p.Gln2147Lys)
c.705-609C>A (n.705-609C>A)
c.3761C>A
c.6163C>A (p.Gln2055Lys)
c.5875C>A (p.Gln1959Lys)
c.3403C>A (p.Gln1135Lys)
19g.35732988C>GCA405428503KMT2Bn.745C>G
c.6373C>G (p.Gln2125Glu)
c.3980C>G (n.3980C>G)
c.1657C>G (p.Gln553Glu)
n.1592C>G
c.1660C>G (p.Gln554Glu)
c.5981C>G
c.6439C>G (p.Gln2147Glu)
c.705-609C>G (n.705-609C>G)
c.3761C>G
c.6163C>G (p.Gln2055Glu)
c.5875C>G (p.Gln1959Glu)
c.3403C>G (p.Gln1135Glu)
19g.35732988C>TCA405428505KMT2Bn.745C>T
c.6373C>T (p.Gln2125Ter)
c.3980C>T (n.3980C>T)
c.1657C>T (p.Gln553Ter)
n.1592C>T
c.1660C>T (p.Gln554Ter)
c.5981C>T
c.6439C>T (p.Gln2147Ter)
c.705-609C>T (n.705-609C>T)
c.3761C>T
c.6163C>T (p.Gln2055Ter)
c.5875C>T (p.Gln1959Ter)
c.3403C>T (p.Gln1135Ter)
ClinVar dbSNP
19g.35732989A>CCA405428508KMT2Bn.746A>C
c.6374A>C (p.Gln2125Pro)
c.3981A>C (n.3981A>C)
c.1658A>C (p.Gln553Pro)
n.1593A>C
c.1661A>C (p.Gln554Pro)
c.5982A>C
c.6440A>C (p.Gln2147Pro)
c.705-608A>C (n.705-608A>C)
c.3762A>C
c.6164A>C (p.Gln2055Pro)
c.5876A>C (p.Gln1959Pro)
c.3404A>C (p.Gln1135Pro)
19g.35732989A>GCA405428511KMT2Bn.746A>G
c.6374A>G (p.Gln2125Arg)
c.3981A>G (n.3981A>G)
c.1658A>G (p.Gln553Arg)
n.1593A>G
c.1661A>G (p.Gln554Arg)
c.5982A>G
c.6440A>G (p.Gln2147Arg)
c.705-608A>G (n.705-608A>G)
c.3762A>G
c.6164A>G (p.Gln2055Arg)
c.5876A>G (p.Gln1959Arg)
c.3404A>G (p.Gln1135Arg)
19g.35732989A>TCA405428512KMT2Bn.746A>T
c.6374A>T (p.Gln2125Leu)
c.3981A>T (n.3981A>T)
c.1658A>T (p.Gln553Leu)
n.1593A>T
c.1661A>T (p.Gln554Leu)
c.5982A>T
c.6440A>T (p.Gln2147Leu)
c.705-608A>T (n.705-608A>T)
c.3762A>T
c.6164A>T (p.Gln2055Leu)
c.5876A>T (p.Gln1959Leu)
c.3404A>T (p.Gln1135Leu)
19g.35732990G>ACA507308972KMT2Bn.747G>A
c.6375G>A (p.Gln2125=)
c.3982G>A (n.3982G>A)
c.1659G>A (p.Gln553=)
n.1594G>A
c.1662G>A (p.Gln554=)
c.5983G>A
c.6441G>A (p.Gln2147=)
c.705-607G>A (n.705-607G>A)
c.3763G>A
c.6165G>A (p.Gln2055=)
c.5877G>A (p.Gln1959=)
c.3405G>A (p.Gln1135=)
19g.35732990G>CCA405428515KMT2Bn.747G>C
c.6375G>C (p.Gln2125His)
c.3982G>C (n.3982G>C)
c.1659G>C (p.Gln553His)
n.1594G>C
c.1662G>C (p.Gln554His)
c.5983G>C
c.6441G>C (p.Gln2147His)
c.705-607G>C (n.705-607G>C)
c.3763G>C
c.6165G>C (p.Gln2055His)
c.5877G>C (p.Gln1959His)
c.3405G>C (p.Gln1135His)
19g.35732990G>TCA405428518KMT2Bn.747G>T
c.6375G>T (p.Gln2125His)
c.3982G>T (n.3982G>T)
c.1659G>T (p.Gln553His)
n.1594G>T
c.1662G>T (p.Gln554His)
c.5983G>T
c.6441G>T (p.Gln2147His)
c.705-607G>T (n.705-607G>T)
c.3763G>T
c.6165G>T (p.Gln2055His)
c.5877G>T (p.Gln1959His)
c.3405G>T (p.Gln1135His)
19g.35732991C>ACA405428526KMT2Bn.748C>A
c.6376C>A (p.Pro2126Thr)
c.3983C>A (n.3983C>A)
c.1660C>A (p.Pro554Thr)
n.1595C>A
c.1663C>A (p.Pro555Thr)
c.5984C>A
c.6442C>A (p.Pro2148Thr)
c.705-606C>A (n.705-606C>A)
c.3764C>A
c.6166C>A (p.Pro2056Thr)
c.5878C>A (p.Pro1960Thr)
c.3406C>A (p.Pro1136Thr)
gnomAD v4
19g.35732991C=CA2333794599KMT2Bn.748C=
c.6376C= (p.Pro2126=)
c.3983C= (n.3983C=)
c.1660C= (p.Pro554=)
n.1595C=
c.1663C= (p.Pro555=)
c.5984C=
c.6442C= (p.Pro2148=)
c.705-606C= (n.705-606C=)
c.3764C=
c.6166C= (p.Pro2056=)
c.5878C= (p.Pro1960=)
c.3406C= (p.Pro1136=)
19g.35732991C>GCA405428523KMT2Bn.748C>G
c.6376C>G (p.Pro2126Ala)
c.3983C>G (n.3983C>G)
c.1660C>G (p.Pro554Ala)
n.1595C>G
c.1663C>G (p.Pro555Ala)
c.5984C>G
c.6442C>G (p.Pro2148Ala)
c.705-606C>G (n.705-606C>G)
c.3764C>G
c.6166C>G (p.Pro2056Ala)
c.5878C>G (p.Pro1960Ala)
c.3406C>G (p.Pro1136Ala)
19g.35732991C>TCA405428522KMT2Bn.748C>T
c.6376C>T (p.Pro2126Ser)
c.3983C>T (n.3983C>T)
c.1660C>T (p.Pro554Ser)
n.1595C>T
c.1663C>T (p.Pro555Ser)
c.5984C>T
c.6442C>T (p.Pro2148Ser)
c.705-606C>T (n.705-606C>T)
c.3764C>T
c.6166C>T (p.Pro2056Ser)
c.5878C>T (p.Pro1960Ser)
c.3406C>T (p.Pro1136Ser)
dbSNP gnomAD v2 gnomAD v4
19g.35732992C>ACA405428529KMT2Bn.749C>A
c.6377C>A (p.Pro2126His)
c.3984C>A (n.3984C>A)
c.1661C>A (p.Pro554His)
n.1596C>A
c.1664C>A (p.Pro555His)
c.5985C>A
c.6443C>A (p.Pro2148His)
c.705-605C>A (n.705-605C>A)
c.3765C>A
c.6167C>A (p.Pro2056His)
c.5879C>A (p.Pro1960His)
c.3407C>A (p.Pro1136His)
gnomAD v4
19g.35732992C=CA2333794600KMT2Bn.749C=
c.6377C= (p.Pro2126=)
c.3984C= (n.3984C=)
c.1661C= (p.Pro554=)
n.1596C=
c.1664C= (p.Pro555=)
c.5985C=
c.6443C= (p.Pro2148=)
c.705-605C= (n.705-605C=)
c.3765C=
c.6167C= (p.Pro2056=)
c.5879C= (p.Pro1960=)
c.3407C= (p.Pro1136=)
19g.35732992C>GCA9385688KMT2Bn.749C>G
c.6377C>G (p.Pro2126Arg)
c.3984C>G (n.3984C>G)
c.1661C>G (p.Pro554Arg)
n.1596C>G
c.1664C>G (p.Pro555Arg)
c.5985C>G
c.6443C>G (p.Pro2148Arg)
c.705-605C>G (n.705-605C>G)
c.3765C>G
c.6167C>G (p.Pro2056Arg)
c.5879C>G (p.Pro1960Arg)
c.3407C>G (p.Pro1136Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732992C>TCA405428539KMT2Bn.749C>T
c.6377C>T (p.Pro2126Leu)
c.3984C>T (n.3984C>T)
c.1661C>T (p.Pro554Leu)
n.1596C>T
c.1664C>T (p.Pro555Leu)
c.5985C>T
c.6443C>T (p.Pro2148Leu)
c.705-605C>T (n.705-605C>T)
c.3765C>T
c.6167C>T (p.Pro2056Leu)
c.5879C>T (p.Pro1960Leu)
c.3407C>T (p.Pro1136Leu)
gnomAD v4
19g.35732993C>ACA507308978KMT2Bn.750C>A
c.6378C>A (p.Pro2126=)
c.3985C>A (n.3985C>A)
c.1662C>A (p.Pro554=)
n.1597C>A
c.1665C>A (p.Pro555=)
c.5986C>A
c.6444C>A (p.Pro2148=)
c.705-604C>A (n.705-604C>A)
c.3766C>A
c.6168C>A (p.Pro2056=)
c.5880C>A (p.Pro1960=)
c.3408C>A (p.Pro1136=)
gnomAD v4
19g.35732993C>GCA507308980KMT2Bn.750C>G
c.6378C>G (p.Pro2126=)
c.3985C>G (n.3985C>G)
c.1662C>G (p.Pro554=)
n.1597C>G
c.1665C>G (p.Pro555=)
c.5986C>G
c.6444C>G (p.Pro2148=)
c.705-604C>G (n.705-604C>G)
c.3766C>G
c.6168C>G (p.Pro2056=)
c.5880C>G (p.Pro1960=)
c.3408C>G (p.Pro1136=)
19g.35732993C>TCA507308979KMT2Bn.750C>T
c.6378C>T (p.Pro2126=)
c.3985C>T (n.3985C>T)
c.1662C>T (p.Pro554=)
n.1597C>T
c.1665C>T (p.Pro555=)
c.5986C>T
c.6444C>T (p.Pro2148=)
c.705-604C>T (n.705-604C>T)
c.3766C>T
c.6168C>T (p.Pro2056=)
c.5880C>T (p.Pro1960=)
c.3408C>T (p.Pro1136=)
gnomAD v4
19g.35732994T>ACA405428544KMT2Bn.751T>A
c.6379T>A (p.Ser2127Thr)
c.3986T>A (n.3986T>A)
c.1663T>A (p.Ser555Thr)
n.1598T>A
c.1666T>A (p.Ser556Thr)
c.5987T>A
c.6445T>A (p.Ser2149Thr)
c.705-603T>A (n.705-603T>A)
c.3767T>A
c.6169T>A (p.Ser2057Thr)
c.5881T>A (p.Ser1961Thr)
c.3409T>A (p.Ser1137Thr)
19g.35732994T>CCA405428545KMT2Bn.751T>C
c.6379T>C (p.Ser2127Pro)
c.3986T>C (n.3986T>C)
c.1663T>C (p.Ser555Pro)
n.1598T>C
c.1666T>C (p.Ser556Pro)
c.5987T>C
c.6445T>C (p.Ser2149Pro)
c.705-603T>C (n.705-603T>C)
c.3767T>C
c.6169T>C (p.Ser2057Pro)
c.5881T>C (p.Ser1961Pro)
c.3409T>C (p.Ser1137Pro)
19g.35732994T>GCA405428546KMT2Bn.751T>G
c.6379T>G (p.Ser2127Ala)
c.3986T>G (n.3986T>G)
c.1663T>G (p.Ser555Ala)
n.1598T>G
c.1666T>G (p.Ser556Ala)
c.5987T>G
c.6445T>G (p.Ser2149Ala)
c.705-603T>G (n.705-603T>G)
c.3767T>G
c.6169T>G (p.Ser2057Ala)
c.5881T>G (p.Ser1961Ala)
c.3409T>G (p.Ser1137Ala)
19g.35732995C>ACA405428550KMT2Bn.752C>A
c.6380C>A (p.Ser2127Tyr)
c.3987C>A (n.3987C>A)
c.1664C>A (p.Ser555Tyr)
n.1599C>A
c.1667C>A (p.Ser556Tyr)
c.5988C>A
c.6446C>A (p.Ser2149Tyr)
c.705-602C>A (n.705-602C>A)
c.3768C>A
c.6170C>A (p.Ser2057Tyr)
c.5882C>A (p.Ser1961Tyr)
c.3410C>A (p.Ser1137Tyr)
19g.35732995C>GCA405428548KMT2Bn.752C>G
c.6380C>G (p.Ser2127Cys)
c.3987C>G (n.3987C>G)
c.1664C>G (p.Ser555Cys)
n.1599C>G
c.1667C>G (p.Ser556Cys)
c.5988C>G
c.6446C>G (p.Ser2149Cys)
c.705-602C>G (n.705-602C>G)
c.3768C>G
c.6170C>G (p.Ser2057Cys)
c.5882C>G (p.Ser1961Cys)
c.3410C>G (p.Ser1137Cys)
19g.35732995C>TCA405428547KMT2Bn.752C>T
c.6380C>T (p.Ser2127Phe)
c.3987C>T (n.3987C>T)
c.1664C>T (p.Ser555Phe)
n.1599C>T
c.1667C>T (p.Ser556Phe)
c.5988C>T
c.6446C>T (p.Ser2149Phe)
c.705-602C>T (n.705-602C>T)
c.3768C>T
c.6170C>T (p.Ser2057Phe)
c.5882C>T (p.Ser1961Phe)
c.3410C>T (p.Ser1137Phe)
gnomAD v4 COSMIC
19g.35732997delCA645604596KMT2Bn.754del
c.6382del (p.Gln2128LysfsTer3)
c.3989del (n.3989del)
c.1666del (p.Gln556LysfsTer3)
n.1601del
c.1669del (p.Gln557LysfsTer3)
c.5990del
c.6448del (p.Gln2150LysfsTer3)
c.705-600del (n.705-600del)
c.3770del
c.6172del (p.Gln2058LysfsTer3)
c.5884del (p.Gln1962LysfsTer3)
c.3412del (p.Gln1138LysfsTer3)
COSMIC
19g.35732996C>ACA507308985KMT2Bn.753C>A
c.6381C>A (p.Ser2127=)
c.3988C>A (n.3988C>A)
c.1665C>A (p.Ser555=)
n.1600C>A
c.1668C>A (p.Ser556=)
c.5989C>A
c.6447C>A (p.Ser2149=)
c.705-601C>A (n.705-601C>A)
c.3769C>A
c.6171C>A (p.Ser2057=)
c.5883C>A (p.Ser1961=)
c.3411C>A (p.Ser1137=)
19g.35732996C>GCA507308988KMT2Bn.753C>G
c.6381C>G (p.Ser2127=)
c.3988C>G (n.3988C>G)
c.1665C>G (p.Ser555=)
n.1600C>G
c.1668C>G (p.Ser556=)
c.5989C>G
c.6447C>G (p.Ser2149=)
c.705-601C>G (n.705-601C>G)
c.3769C>G
c.6171C>G (p.Ser2057=)
c.5883C>G (p.Ser1961=)
c.3411C>G (p.Ser1137=)
19g.35732996C>TCA507308990KMT2Bn.753C>T
c.6381C>T (p.Ser2127=)
c.3988C>T (n.3988C>T)
c.1665C>T (p.Ser555=)
n.1600C>T
c.1668C>T (p.Ser556=)
c.5989C>T
c.6447C>T (p.Ser2149=)
c.705-601C>T (n.705-601C>T)
c.3769C>T
c.6171C>T (p.Ser2057=)
c.5883C>T (p.Ser1961=)
c.3411C>T (p.Ser1137=)
gnomAD v4
19g.35732997C>ACA405428554KMT2Bn.754C>A
c.6382C>A (p.Gln2128Lys)
c.3989C>A (n.3989C>A)
c.1666C>A (p.Gln556Lys)
n.1601C>A
c.1669C>A (p.Gln557Lys)
c.5990C>A
c.6448C>A (p.Gln2150Lys)
c.705-600C>A (n.705-600C>A)
c.3770C>A
c.6172C>A (p.Gln2058Lys)
c.5884C>A (p.Gln1962Lys)
c.3412C>A (p.Gln1138Lys)
gnomAD v4
19g.35732997C>GCA405428557KMT2Bn.754C>G
c.6382C>G (p.Gln2128Glu)
c.3989C>G (n.3989C>G)
c.1666C>G (p.Gln556Glu)
n.1601C>G
c.1669C>G (p.Gln557Glu)
c.5990C>G
c.6448C>G (p.Gln2150Glu)
c.705-600C>G (n.705-600C>G)
c.3770C>G
c.6172C>G (p.Gln2058Glu)
c.5884C>G (p.Gln1962Glu)
c.3412C>G (p.Gln1138Glu)
gnomAD v4
19g.35732997C>TCA405428560KMT2Bn.754C>T
c.6382C>T (p.Gln2128Ter)
c.3989C>T (n.3989C>T)
c.1666C>T (p.Gln556Ter)
n.1601C>T
c.1669C>T (p.Gln557Ter)
c.5990C>T
c.6448C>T (p.Gln2150Ter)
c.705-600C>T (n.705-600C>T)
c.3770C>T
c.6172C>T (p.Gln2058Ter)
c.5884C>T (p.Gln1962Ter)
c.3412C>T (p.Gln1138Ter)
19g.35732998A=CA2333794601KMT2Bn.755A=
c.6383A= (p.Gln2128=)
c.3990A= (n.3990A=)
c.1667A= (p.Gln556=)
n.1602A=
c.1670A= (p.Gln557=)
c.5991A=
c.6449A= (p.Gln2150=)
c.705-599A= (n.705-599A=)
c.3771A=
c.6173A= (p.Gln2058=)
c.5885A= (p.Gln1962=)
c.3413A= (p.Gln1138=)
19g.35732998A>CCA405428563KMT2Bn.755A>C
c.6383A>C (p.Gln2128Pro)
c.3990A>C (n.3990A>C)
c.1667A>C (p.Gln556Pro)
n.1602A>C
c.1670A>C (p.Gln557Pro)
c.5991A>C
c.6449A>C (p.Gln2150Pro)
c.705-599A>C (n.705-599A>C)
c.3771A>C
c.6173A>C (p.Gln2058Pro)
c.5885A>C (p.Gln1962Pro)
c.3413A>C (p.Gln1138Pro)
19g.35732998A>GCA405428566KMT2Bn.755A>G
c.6383A>G (p.Gln2128Arg)
c.3990A>G (n.3990A>G)
c.1667A>G (p.Gln556Arg)
n.1602A>G
c.1670A>G (p.Gln557Arg)
c.5991A>G
c.6449A>G (p.Gln2150Arg)
c.705-599A>G (n.705-599A>G)
c.3771A>G
c.6173A>G (p.Gln2058Arg)
c.5885A>G (p.Gln1962Arg)
c.3413A>G (p.Gln1138Arg)
dbSNP
19g.35732998A>TCA405428569KMT2Bn.755A>T
c.6383A>T (p.Gln2128Leu)
c.3990A>T (n.3990A>T)
c.1667A>T (p.Gln556Leu)
n.1602A>T
c.1670A>T (p.Gln557Leu)
c.5991A>T
c.6449A>T (p.Gln2150Leu)
c.705-599A>T (n.705-599A>T)
c.3771A>T
c.6173A>T (p.Gln2058Leu)
c.5885A>T (p.Gln1962Leu)
c.3413A>T (p.Gln1138Leu)
19g.35732999A=CA2333794602KMT2Bn.756A=
c.6384A= (p.Gln2128=)
c.3991A= (n.3991A=)
c.1668A= (p.Gln556=)
n.1603A=
c.1671A= (p.Gln557=)
c.5992A=
c.6450A= (p.Gln2150=)
c.705-598A= (n.705-598A=)
c.3772A=
c.6174A= (p.Gln2058=)
c.5886A= (p.Gln1962=)
c.3414A= (p.Gln1138=)
19g.35732999A>CCA9385689KMT2Bn.756A>C
c.6384A>C (p.Gln2128His)
c.3991A>C (n.3991A>C)
c.1668A>C (p.Gln556His)
n.1603A>C
c.1671A>C (p.Gln557His)
c.5992A>C
c.6450A>C (p.Gln2150His)
c.705-598A>C (n.705-598A>C)
c.3772A>C
c.6174A>C (p.Gln2058His)
c.5886A>C (p.Gln1962His)
c.3414A>C (p.Gln1138His)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.35732999A>GCA9385690KMT2Bn.756A>G
c.6384A>G (p.Gln2128=)
c.3991A>G (n.3991A>G)
c.1668A>G (p.Gln556=)
n.1603A>G
c.1671A>G (p.Gln557=)
c.5992A>G
c.6450A>G (p.Gln2150=)
c.705-598A>G (n.705-598A>G)
c.3772A>G
c.6174A>G (p.Gln2058=)
c.5886A>G (p.Gln1962=)
c.3414A>G (p.Gln1138=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35732999A>TCA405428575KMT2Bn.756A>T
c.6384A>T (p.Gln2128His)
c.3991A>T (n.3991A>T)
c.1668A>T (p.Gln556His)
n.1603A>T
c.1671A>T (p.Gln557His)
c.5992A>T
c.6450A>T (p.Gln2150His)
c.705-598A>T (n.705-598A>T)
c.3772A>T
c.6174A>T (p.Gln2058His)
c.5886A>T (p.Gln1962His)
c.3414A>T (p.Gln1138His)
19g.35733000G>ACA405428580KMT2Bn.757G>A
c.6385G>A (p.Gly2129Ser)
c.3992G>A (n.3992G>A)
c.1669G>A (p.Gly557Ser)
n.1604G>A
c.1672G>A (p.Gly558Ser)
c.5993G>A
c.6451G>A (p.Gly2151Ser)
c.705-597G>A (n.705-597G>A)
c.3773G>A
c.6175G>A (p.Gly2059Ser)
c.5887G>A (p.Gly1963Ser)
c.3415G>A (p.Gly1139Ser)
19g.35733000G>CCA405428590KMT2Bn.757G>C
c.6385G>C (p.Gly2129Arg)
c.3992G>C (n.3992G>C)
c.1669G>C (p.Gly557Arg)
n.1604G>C
c.1672G>C (p.Gly558Arg)
c.5993G>C
c.6451G>C (p.Gly2151Arg)
c.705-597G>C (n.705-597G>C)
c.3773G>C
c.6175G>C (p.Gly2059Arg)
c.5887G>C (p.Gly1963Arg)
c.3415G>C (p.Gly1139Arg)
19g.35733000G>TCA405428596KMT2Bn.757G>T
c.6385G>T (p.Gly2129Cys)
c.3992G>T (n.3992G>T)
c.1669G>T (p.Gly557Cys)
n.1604G>T
c.1672G>T (p.Gly558Cys)
c.5993G>T
c.6451G>T (p.Gly2151Cys)
c.705-597G>T (n.705-597G>T)
c.3773G>T
c.6175G>T (p.Gly2059Cys)
c.5887G>T (p.Gly1963Cys)
c.3415G>T (p.Gly1139Cys)
19g.35733001G>ACA9385691KMT2Bn.758G>A
c.6386G>A (p.Gly2129Asp)
c.3993G>A (n.3993G>A)
c.1670G>A (p.Gly557Asp)
n.1605G>A
c.1673G>A (p.Gly558Asp)
c.5994G>A
c.6452G>A (p.Gly2151Asp)
c.705-596G>A (n.705-596G>A)
c.3774G>A
c.6176G>A (p.Gly2059Asp)
c.5888G>A (p.Gly1963Asp)
c.3416G>A (p.Gly1139Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35733001G>CCA405428602KMT2Bn.758G>C
c.6386G>C (p.Gly2129Ala)
c.3993G>C (n.3993G>C)
c.1670G>C (p.Gly557Ala)
n.1605G>C
c.1673G>C (p.Gly558Ala)
c.5994G>C
c.6452G>C (p.Gly2151Ala)
c.705-596G>C (n.705-596G>C)
c.3774G>C
c.6176G>C (p.Gly2059Ala)
c.5888G>C (p.Gly1963Ala)
c.3416G>C (p.Gly1139Ala)
19g.35733001G=CA2333794603KMT2Bn.758G=
c.6386G= (p.Gly2129=)
c.3993G= (n.3993G=)
c.1670G= (p.Gly557=)
n.1605G=
c.1673G= (p.Gly558=)
c.5994G=
c.6452G= (p.Gly2151=)
c.705-596G= (n.705-596G=)
c.3774G=
c.6176G= (p.Gly2059=)
c.5888G= (p.Gly1963=)
c.3416G= (p.Gly1139=)
19g.35733001G>TCA405428604KMT2Bn.758G>T
c.6386G>T (p.Gly2129Val)
c.3993G>T (n.3993G>T)
c.1670G>T (p.Gly557Val)
n.1605G>T
c.1673G>T (p.Gly558Val)
c.5994G>T
c.6452G>T (p.Gly2151Val)
c.705-596G>T (n.705-596G>T)
c.3774G>T
c.6176G>T (p.Gly2059Val)
c.5888G>T (p.Gly1963Val)
c.3416G>T (p.Gly1139Val)
gnomAD v4
19g.35733002C>ACA507309011KMT2Bn.759C>A
c.6387C>A (p.Gly2129=)
c.3994C>A (n.3994C>A)
c.1671C>A (p.Gly557=)
n.1606C>A
c.1674C>A (p.Gly558=)
c.5995C>A
c.6453C>A (p.Gly2151=)
c.705-595C>A (n.705-595C>A)
c.3775C>A
c.6177C>A (p.Gly2059=)
c.5889C>A (p.Gly1963=)
c.3417C>A (p.Gly1139=)
19g.35733002C=CA2333794604KMT2Bn.759C=
c.6387C= (p.Gly2129=)
c.3994C= (n.3994C=)
c.1671C= (p.Gly557=)
n.1606C=
c.1674C= (p.Gly558=)
c.5995C=
c.6453C= (p.Gly2151=)
c.705-595C= (n.705-595C=)
c.3775C=
c.6177C= (p.Gly2059=)
c.5889C= (p.Gly1963=)
c.3417C= (p.Gly1139=)
19g.35733002C>GCA507309012KMT2Bn.759C>G
c.6387C>G (p.Gly2129=)
c.3994C>G (n.3994C>G)
c.1671C>G (p.Gly557=)
n.1606C>G
c.1674C>G (p.Gly558=)
c.5995C>G
c.6453C>G (p.Gly2151=)
c.705-595C>G (n.705-595C>G)
c.3775C>G
c.6177C>G (p.Gly2059=)
c.5889C>G (p.Gly1963=)
c.3417C>G (p.Gly1139=)
19g.35733002C>TCA507309013KMT2Bn.759C>T
c.6387C>T (p.Gly2129=)
c.3994C>T (n.3994C>T)
c.1671C>T (p.Gly557=)
n.1606C>T
c.1674C>T (p.Gly558=)
c.5995C>T
c.6453C>T (p.Gly2151=)
c.705-595C>T (n.705-595C>T)
c.3775C>T
c.6177C>T (p.Gly2059=)
c.5889C>T (p.Gly1963=)
c.3417C>T (p.Gly1139=)
dbSNP gnomAD v3 gnomAD v4
19g.35733003C>ACA405428608KMT2Bn.760C>A
c.6388C>A (p.Leu2130Met)
c.3995C>A (n.3995C>A)
c.1672C>A (p.Leu558Met)
n.1607C>A
c.1675C>A (p.Leu559Met)
c.5996C>A
c.6454C>A (p.Leu2152Met)
c.705-594C>A (n.705-594C>A)
c.3776C>A
c.6178C>A (p.Leu2060Met)
c.5890C>A (p.Leu1964Met)
c.3418C>A (p.Leu1140Met)
gnomAD v4
19g.35733003C>GCA405428611KMT2Bn.760C>G
c.6388C>G (p.Leu2130Val)
c.3995C>G (n.3995C>G)
c.1672C>G (p.Leu558Val)
n.1607C>G
c.1675C>G (p.Leu559Val)
c.5996C>G
c.6454C>G (p.Leu2152Val)
c.705-594C>G (n.705-594C>G)
c.3776C>G
c.6178C>G (p.Leu2060Val)
c.5890C>G (p.Leu1964Val)
c.3418C>G (p.Leu1140Val)
19g.35733003C>TCA507309015KMT2Bn.760C>T
c.6388C>T (p.Leu2130=)
c.3995C>T (n.3995C>T)
c.1672C>T (p.Leu558=)
n.1607C>T
c.1675C>T (p.Leu559=)
c.5996C>T
c.6454C>T (p.Leu2152=)
c.705-594C>T (n.705-594C>T)
c.3776C>T
c.6178C>T (p.Leu2060=)
c.5890C>T (p.Leu1964=)
c.3418C>T (p.Leu1140=)
19g.35733004T>ACA405428615KMT2Bn.761T>A
c.6389T>A (p.Leu2130Gln)
c.3996T>A (n.3996T>A)
c.1673T>A (p.Leu558Gln)
n.1608T>A
c.1676T>A (p.Leu559Gln)
c.5997T>A
c.6455T>A (p.Leu2152Gln)
c.705-593T>A (n.705-593T>A)
c.3777T>A
c.6179T>A (p.Leu2060Gln)
c.5891T>A (p.Leu1964Gln)
c.3419T>A (p.Leu1140Gln)
19g.35733004T>CCA405428617KMT2Bn.761T>C
c.6389T>C (p.Leu2130Pro)
c.3996T>C (n.3996T>C)
c.1673T>C (p.Leu558Pro)
n.1608T>C
c.1676T>C (p.Leu559Pro)
c.5997T>C
c.6455T>C (p.Leu2152Pro)
c.705-593T>C (n.705-593T>C)
c.3777T>C
c.6179T>C (p.Leu2060Pro)
c.5891T>C (p.Leu1964Pro)
c.3419T>C (p.Leu1140Pro)
gnomAD v4
19g.35733004T>GCA405428618KMT2Bn.761T>G
c.6389T>G (p.Leu2130Arg)
c.3996T>G (n.3996T>G)
c.1673T>G (p.Leu558Arg)
n.1608T>G
c.1676T>G (p.Leu559Arg)
c.5997T>G
c.6455T>G (p.Leu2152Arg)
c.705-593T>G (n.705-593T>G)
c.3777T>G
c.6179T>G (p.Leu2060Arg)
c.5891T>G (p.Leu1964Arg)
c.3419T>G (p.Leu1140Arg)
19g.35733005G>ACA507309022KMT2Bn.762G>A
c.6390G>A (p.Leu2130=)
c.3997G>A (n.3997G>A)
c.1674G>A (p.Leu558=)
n.1609G>A
c.1677G>A (p.Leu559=)
c.5998G>A
c.6456G>A (p.Leu2152=)
c.705-592G>A (n.705-592G>A)
c.3778G>A
c.6180G>A (p.Leu2060=)
c.5892G>A (p.Leu1964=)
c.3420G>A (p.Leu1140=)
19g.35733005G>CCA507309023KMT2Bn.762G>C
c.6390G>C (p.Leu2130=)
c.3997G>C (n.3997G>C)
c.1674G>C (p.Leu558=)
n.1609G>C
c.1677G>C (p.Leu559=)
c.5998G>C
c.6456G>C (p.Leu2152=)
c.705-592G>C (n.705-592G>C)
c.3778G>C
c.6180G>C (p.Leu2060=)
c.5892G>C (p.Leu1964=)
c.3420G>C (p.Leu1140=)
19g.35733005G>TCA507309024KMT2Bn.762G>T
c.6390G>T (p.Leu2130=)
c.3997G>T (n.3997G>T)
c.1674G>T (p.Leu558=)
n.1609G>T
c.1677G>T (p.Leu559=)
c.5998G>T
c.6456G>T (p.Leu2152=)
c.705-592G>T (n.705-592G>T)
c.3778G>T
c.6180G>T (p.Leu2060=)
c.5892G>T (p.Leu1964=)
c.3420G>T (p.Leu1140=)
gnomAD v4
19g.35733005_35733006delCA2507100180KMT2Bn.762_763del
c.6390_6391del (p.Thr2131ArgfsTer5)
c.3997_3998del (n.3997_3998del)
c.1674_1675del (p.Thr559ArgfsTer5)
n.1609_1610del
c.1677_1678del (p.Thr560ArgfsTer5)
c.5998_5999del
c.6456_6457del (p.Thr2153ArgfsTer5)
c.705-592_705-591del (n.705-592_705-591del)
c.3778_3779del
c.6180_6181del (p.Thr2061ArgfsTer5)
c.5892_5893del (p.Thr1965ArgfsTer5)
c.3420_3421del (p.Thr1141ArgfsTer5)
19g.35733006A=CA2333794605KMT2Bn.763A=
c.6391A= (p.Thr2131=)
c.3998A= (n.3998A=)
c.1675A= (p.Thr559=)
n.1610A=
c.1678A= (p.Thr560=)
c.5999A=
c.6457A= (p.Thr2153=)
c.705-591A= (n.705-591A=)
c.3779A=
c.6181A= (p.Thr2061=)
c.5893A= (p.Thr1965=)
c.3421A= (p.Thr1141=)
19g.35733006A>CCA405428622KMT2Bn.763A>C
c.6391A>C (p.Thr2131Pro)
c.3998A>C (n.3998A>C)
c.1675A>C (p.Thr559Pro)
n.1610A>C
c.1678A>C (p.Thr560Pro)
c.5999A>C
c.6457A>C (p.Thr2153Pro)
c.705-591A>C (n.705-591A>C)
c.3779A>C
c.6181A>C (p.Thr2061Pro)
c.5893A>C (p.Thr1965Pro)
c.3421A>C (p.Thr1141Pro)
19g.35733006A>GCA405428629KMT2Bn.763A>G
c.6391A>G (p.Thr2131Ala)
c.3998A>G (n.3998A>G)
c.1675A>G (p.Thr559Ala)
n.1610A>G
c.1678A>G (p.Thr560Ala)
c.5999A>G
c.6457A>G (p.Thr2153Ala)
c.705-591A>G (n.705-591A>G)
c.3779A>G
c.6181A>G (p.Thr2061Ala)
c.5893A>G (p.Thr1965Ala)
c.3421A>G (p.Thr1141Ala)
dbSNP gnomAD v2 gnomAD v4
19g.35733006A>TCA405428626KMT2Bn.763A>T
c.6391A>T (p.Thr2131Ser)
c.3998A>T (n.3998A>T)
c.1675A>T (p.Thr559Ser)
n.1610A>T
c.1678A>T (p.Thr560Ser)
c.5999A>T
c.6457A>T (p.Thr2153Ser)
c.705-591A>T (n.705-591A>T)
c.3779A>T
c.6181A>T (p.Thr2061Ser)
c.5893A>T (p.Thr1965Ser)
c.3421A>T (p.Thr1141Ser)
19g.35733007C>ACA405428630KMT2Bn.764C>A
c.6392C>A (p.Thr2131Asn)
c.3999C>A (n.3999C>A)
c.1676C>A (p.Thr559Asn)
n.1611C>A
c.1679C>A (p.Thr560Asn)
c.6000C>A
c.6458C>A (p.Thr2153Asn)
c.705-590C>A (n.705-590C>A)
c.3780C>A
c.6182C>A (p.Thr2061Asn)
c.5894C>A (p.Thr1965Asn)
c.3422C>A (p.Thr1141Asn)
gnomAD v4
19g.35733007C>GCA405428631KMT2Bn.764C>G
c.6392C>G (p.Thr2131Ser)
c.3999C>G (n.3999C>G)
c.1676C>G (p.Thr559Ser)
n.1611C>G
c.1679C>G (p.Thr560Ser)
c.6000C>G
c.6458C>G (p.Thr2153Ser)
c.705-590C>G (n.705-590C>G)
c.3780C>G
c.6182C>G (p.Thr2061Ser)
c.5894C>G (p.Thr1965Ser)
c.3422C>G (p.Thr1141Ser)
19g.35733007C>TCA405428632KMT2Bn.764C>T
c.6392C>T (p.Thr2131Ile)
c.3999C>T (n.3999C>T)
c.1676C>T (p.Thr559Ile)
n.1611C>T
c.1679C>T (p.Thr560Ile)
c.6000C>T
c.6458C>T (p.Thr2153Ile)
c.705-590C>T (n.705-590C>T)
c.3780C>T
c.6182C>T (p.Thr2061Ile)
c.5894C>T (p.Thr1965Ile)
c.3422C>T (p.Thr1141Ile)
gnomAD v4
19g.35733008C>ACA507309037KMT2Bn.765C>A
c.6393C>A (p.Thr2131=)
c.4000C>A (n.4000C>A)
c.1677C>A (p.Thr559=)
n.1612C>A
c.1680C>A (p.Thr560=)
c.6001C>A
c.6459C>A (p.Thr2153=)
c.705-589C>A (n.705-589C>A)
c.3781C>A
c.6183C>A (p.Thr2061=)
c.5895C>A (p.Thr1965=)
c.3423C>A (p.Thr1141=)
gnomAD v4
19g.35733008C=CA2333794606KMT2Bn.765C=
c.6393C= (p.Thr2131=)
c.4000C= (n.4000C=)
c.1677C= (p.Thr559=)
n.1612C=
c.1680C= (p.Thr560=)
c.6001C=
c.6459C= (p.Thr2153=)
c.705-589C= (n.705-589C=)
c.3781C=
c.6183C= (p.Thr2061=)
c.5895C= (p.Thr1965=)
c.3423C= (p.Thr1141=)
19g.35733008C>GCA507309042KMT2Bn.765C>G
c.6393C>G (p.Thr2131=)
c.4000C>G (n.4000C>G)
c.1677C>G (p.Thr559=)
n.1612C>G
c.1680C>G (p.Thr560=)
c.6001C>G
c.6459C>G (p.Thr2153=)
c.705-589C>G (n.705-589C>G)
c.3781C>G
c.6183C>G (p.Thr2061=)
c.5895C>G (p.Thr1965=)
c.3423C>G (p.Thr1141=)
19g.35733008C>TCA9385692KMT2Bn.765C>T
c.6393C>T (p.Thr2131=)
c.4000C>T (n.4000C>T)
c.1677C>T (p.Thr559=)
n.1612C>T
c.1680C>T (p.Thr560=)
c.6001C>T
c.6459C>T (p.Thr2153=)
c.705-589C>T (n.705-589C>T)
c.3781C>T
c.6183C>T (p.Thr2061=)
c.5895C>T (p.Thr1965=)
c.3423C>T (p.Thr1141=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733009G>ACA9385693KMT2Bn.766G>A
c.6394G>A (p.Ala2132Thr)
c.4001G>A (n.4001G>A)
c.1678G>A (p.Ala560Thr)
n.1613G>A
c.1681G>A (p.Ala561Thr)
c.6002G>A
c.6460G>A (p.Ala2154Thr)
c.705-588G>A (n.705-588G>A)
c.3782G>A
c.6184G>A (p.Ala2062Thr)
c.5896G>A (p.Ala1966Thr)
c.3424G>A (p.Ala1142Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733009G>CCA405428639KMT2Bn.766G>C
c.6394G>C (p.Ala2132Pro)
c.4001G>C (n.4001G>C)
c.1678G>C (p.Ala560Pro)
n.1613G>C
c.1681G>C (p.Ala561Pro)
c.6002G>C
c.6460G>C (p.Ala2154Pro)
c.705-588G>C (n.705-588G>C)
c.3782G>C
c.6184G>C (p.Ala2062Pro)
c.5896G>C (p.Ala1966Pro)
c.3424G>C (p.Ala1142Pro)
19g.35733009G=CA2333794607KMT2Bn.766G=
c.6394G= (p.Ala2132=)
c.4001G= (n.4001G=)
c.1678G= (p.Ala560=)
n.1613G=
c.1681G= (p.Ala561=)
c.6002G=
c.6460G= (p.Ala2154=)
c.705-588G= (n.705-588G=)
c.3782G=
c.6184G= (p.Ala2062=)
c.5896G= (p.Ala1966=)
c.3424G= (p.Ala1142=)
19g.35733009G>TCA405428642KMT2Bn.766G>T
c.6394G>T (p.Ala2132Ser)
c.4001G>T (n.4001G>T)
c.1678G>T (p.Ala560Ser)
n.1613G>T
c.1681G>T (p.Ala561Ser)
c.6002G>T
c.6460G>T (p.Ala2154Ser)
c.705-588G>T (n.705-588G>T)
c.3782G>T
c.6184G>T (p.Ala2062Ser)
c.5896G>T (p.Ala1966Ser)
c.3424G>T (p.Ala1142Ser)
gnomAD v4
19g.35733010C>ACA405428646KMT2Bn.767C>A
c.6395C>A (p.Ala2132Asp)
c.4002C>A (n.4002C>A)
c.1679C>A (p.Ala560Asp)
n.1614C>A
c.1682C>A (p.Ala561Asp)
c.6003C>A
c.6461C>A (p.Ala2154Asp)
c.705-587C>A (n.705-587C>A)
c.3783C>A
c.6185C>A (p.Ala2062Asp)
c.5897C>A (p.Ala1966Asp)
c.3425C>A (p.Ala1142Asp)
gnomAD v4
19g.35733010C>GCA405428649KMT2Bn.767C>G
c.6395C>G (p.Ala2132Gly)
c.4002C>G (n.4002C>G)
c.1679C>G (p.Ala560Gly)
n.1614C>G
c.1682C>G (p.Ala561Gly)
c.6003C>G
c.6461C>G (p.Ala2154Gly)
c.705-587C>G (n.705-587C>G)
c.3783C>G
c.6185C>G (p.Ala2062Gly)
c.5897C>G (p.Ala1966Gly)
c.3425C>G (p.Ala1142Gly)
19g.35733010C>TCA405428652KMT2Bn.767C>T
c.6395C>T (p.Ala2132Val)
c.4002C>T (n.4002C>T)
c.1679C>T (p.Ala560Val)
n.1614C>T
c.1682C>T (p.Ala561Val)
c.6003C>T
c.6461C>T (p.Ala2154Val)
c.705-587C>T (n.705-587C>T)
c.3783C>T
c.6185C>T (p.Ala2062Val)
c.5897C>T (p.Ala1966Val)
c.3425C>T (p.Ala1142Val)
gnomAD v4
19g.35733011C>ACA507309048KMT2Bn.768C>A
c.6396C>A (p.Ala2132=)
c.4003C>A (n.4003C>A)
c.1680C>A (p.Ala560=)
n.1615C>A
c.1683C>A (p.Ala561=)
c.6004C>A
c.6462C>A (p.Ala2154=)
c.705-586C>A (n.705-586C>A)
c.3784C>A
c.6186C>A (p.Ala2062=)
c.5898C>A (p.Ala1966=)
c.3426C>A (p.Ala1142=)
19g.35733011C=CA2333794608KMT2Bn.768C=
c.6396C= (p.Ala2132=)
c.4003C= (n.4003C=)
c.1680C= (p.Ala560=)
n.1615C=
c.1683C= (p.Ala561=)
c.6004C=
c.6462C= (p.Ala2154=)
c.705-586C= (n.705-586C=)
c.3784C=
c.6186C= (p.Ala2062=)
c.5898C= (p.Ala1966=)
c.3426C= (p.Ala1142=)
19g.35733011C>GCA507309049KMT2Bn.768C>G
c.6396C>G (p.Ala2132=)
c.4003C>G (n.4003C>G)
c.1680C>G (p.Ala560=)
n.1615C>G
c.1683C>G (p.Ala561=)
c.6004C>G
c.6462C>G (p.Ala2154=)
c.705-586C>G (n.705-586C>G)
c.3784C>G
c.6186C>G (p.Ala2062=)
c.5898C>G (p.Ala1966=)
c.3426C>G (p.Ala1142=)
19g.35733011C>TCA507309050KMT2Bn.768C>T
c.6396C>T (p.Ala2132=)
c.4003C>T (n.4003C>T)
c.1680C>T (p.Ala560=)
n.1615C>T
c.1683C>T (p.Ala561=)
c.6004C>T
c.6462C>T (p.Ala2154=)
c.705-586C>T (n.705-586C>T)
c.3784C>T
c.6186C>T (p.Ala2062=)
c.5898C>T (p.Ala1966=)
c.3426C>T (p.Ala1142=)
dbSNP gnomAD v2 gnomAD v4
19g.35733012A>CCA405428653KMT2Bn.769A>C
c.6397A>C (p.Ser2133Arg)
c.4004A>C (n.4004A>C)
c.1681A>C (p.Ser561Arg)
n.1616A>C
c.1684A>C (p.Ser562Arg)
c.6005A>C
c.6463A>C (p.Ser2155Arg)
c.705-585A>C (n.705-585A>C)
c.3785A>C
c.6187A>C (p.Ser2063Arg)
c.5899A>C (p.Ser1967Arg)
c.3427A>C (p.Ser1143Arg)
19g.35733012A>GCA405428655KMT2Bn.769A>G
c.6397A>G (p.Ser2133Gly)
c.4004A>G (n.4004A>G)
c.1681A>G (p.Ser561Gly)
n.1616A>G
c.1684A>G (p.Ser562Gly)
c.6005A>G
c.6463A>G (p.Ser2155Gly)
c.705-585A>G (n.705-585A>G)
c.3785A>G
c.6187A>G (p.Ser2063Gly)
c.5899A>G (p.Ser1967Gly)
c.3427A>G (p.Ser1143Gly)
19g.35733012A>TCA405428658KMT2Bn.769A>T
c.6397A>T (p.Ser2133Cys)
c.4004A>T (n.4004A>T)
c.1681A>T (p.Ser561Cys)
n.1616A>T
c.1684A>T (p.Ser562Cys)
c.6005A>T
c.6463A>T (p.Ser2155Cys)
c.705-585A>T (n.705-585A>T)
c.3785A>T
c.6187A>T (p.Ser2063Cys)
c.5899A>T (p.Ser1967Cys)
c.3427A>T (p.Ser1143Cys)
19g.35733013G>ACA405428661KMT2Bn.770G>A
c.6398G>A (p.Ser2133Asn)
c.4005G>A (n.4005G>A)
c.1682G>A (p.Ser561Asn)
n.1617G>A
c.1685G>A (p.Ser562Asn)
c.6006G>A
c.6464G>A (p.Ser2155Asn)
c.705-584G>A (n.705-584G>A)
c.3786G>A
c.6188G>A (p.Ser2063Asn)
c.5900G>A (p.Ser1967Asn)
c.3428G>A (p.Ser1143Asn)
19g.35733013G>CCA405428663KMT2Bn.770G>C
c.6398G>C (p.Ser2133Thr)
c.4005G>C (n.4005G>C)
c.1682G>C (p.Ser561Thr)
n.1617G>C
c.1685G>C (p.Ser562Thr)
c.6006G>C
c.6464G>C (p.Ser2155Thr)
c.705-584G>C (n.705-584G>C)
c.3786G>C
c.6188G>C (p.Ser2063Thr)
c.5900G>C (p.Ser1967Thr)
c.3428G>C (p.Ser1143Thr)
19g.35733013G>TCA405428662KMT2Bn.770G>T
c.6398G>T (p.Ser2133Ile)
c.4005G>T (n.4005G>T)
c.1682G>T (p.Ser561Ile)
n.1617G>T
c.1685G>T (p.Ser562Ile)
c.6006G>T
c.6464G>T (p.Ser2155Ile)
c.705-584G>T (n.705-584G>T)
c.3786G>T
c.6188G>T (p.Ser2063Ile)
c.5900G>T (p.Ser1967Ile)
c.3428G>T (p.Ser1143Ile)
gnomAD v4
19g.35733014C>ACA405428664KMT2Bn.771C>A
c.6399C>A (p.Ser2133Arg)
c.4006C>A (n.4006C>A)
c.1683C>A (p.Ser561Arg)
n.1618C>A
c.1686C>A (p.Ser562Arg)
c.6007C>A
c.6465C>A (p.Ser2155Arg)
c.705-583C>A (n.705-583C>A)
c.3787C>A
c.6189C>A (p.Ser2063Arg)
c.5901C>A (p.Ser1967Arg)
c.3429C>A (p.Ser1143Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35733014C=CA2333794609KMT2Bn.771C=
c.6399C= (p.Ser2133=)
c.4006C= (n.4006C=)
c.1683C= (p.Ser561=)
n.1618C=
c.1686C= (p.Ser562=)
c.6007C=
c.6465C= (p.Ser2155=)
c.705-583C= (n.705-583C=)
c.3787C=
c.6189C= (p.Ser2063=)
c.5901C= (p.Ser1967=)
c.3429C= (p.Ser1143=)
19g.35733014C>GCA405428665KMT2Bn.771C>G
c.6399C>G (p.Ser2133Arg)
c.4006C>G (n.4006C>G)
c.1683C>G (p.Ser561Arg)
n.1618C>G
c.1686C>G (p.Ser562Arg)
c.6007C>G
c.6465C>G (p.Ser2155Arg)
c.705-583C>G (n.705-583C>G)
c.3787C>G
c.6189C>G (p.Ser2063Arg)
c.5901C>G (p.Ser1967Arg)
c.3429C>G (p.Ser1143Arg)
gnomAD v4
19g.35733014C>TCA507309057KMT2Bn.771C>T
c.6399C>T (p.Ser2133=)
c.4006C>T (n.4006C>T)
c.1683C>T (p.Ser561=)
n.1618C>T
c.1686C>T (p.Ser562=)
c.6007C>T
c.6465C>T (p.Ser2155=)
c.705-583C>T (n.705-583C>T)
c.3787C>T
c.6189C>T (p.Ser2063=)
c.5901C>T (p.Ser1967=)
c.3429C>T (p.Ser1143=)
19g.35733015C>ACA405428670KMT2Bn.772C>A
c.6400C>A (p.Pro2134Thr)
c.4007C>A (n.4007C>A)
c.1684C>A (p.Pro562Thr)
n.1619C>A
c.1687C>A (p.Pro563Thr)
c.6008C>A
c.6466C>A (p.Pro2156Thr)
c.705-582C>A (n.705-582C>A)
c.3788C>A
c.6190C>A (p.Pro2064Thr)
c.5902C>A (p.Pro1968Thr)
c.3430C>A (p.Pro1144Thr)
gnomAD v4
19g.35733015C=CA2333794610KMT2Bn.772C=
c.6400C= (p.Pro2134=)
c.4007C= (n.4007C=)
c.1684C= (p.Pro562=)
n.1619C=
c.1687C= (p.Pro563=)
c.6008C=
c.6466C= (p.Pro2156=)
c.705-582C= (n.705-582C=)
c.3788C=
c.6190C= (p.Pro2064=)
c.5902C= (p.Pro1968=)
c.3430C= (p.Pro1144=)
19g.35733015C>GCA405428671KMT2Bn.772C>G
c.6400C>G (p.Pro2134Ala)
c.4007C>G (n.4007C>G)
c.1684C>G (p.Pro562Ala)
n.1619C>G
c.1687C>G (p.Pro563Ala)
c.6008C>G
c.6466C>G (p.Pro2156Ala)
c.705-582C>G (n.705-582C>G)
c.3788C>G
c.6190C>G (p.Pro2064Ala)
c.5902C>G (p.Pro1968Ala)
c.3430C>G (p.Pro1144Ala)
19g.35733015C>TCA405428673KMT2Bn.772C>T
c.6400C>T (p.Pro2134Ser)
c.4007C>T (n.4007C>T)
c.1684C>T (p.Pro562Ser)
n.1619C>T
c.1687C>T (p.Pro563Ser)
c.6008C>T
c.6466C>T (p.Pro2156Ser)
c.705-582C>T (n.705-582C>T)
c.3788C>T
c.6190C>T (p.Pro2064Ser)
c.5902C>T (p.Pro1968Ser)
c.3430C>T (p.Pro1144Ser)
dbSNP
19g.35733016C>ACA405428677KMT2Bn.773C>A
c.6401C>A (p.Pro2134Gln)
c.4008C>A (n.4008C>A)
c.1685C>A (p.Pro562Gln)
n.1620C>A
c.1688C>A (p.Pro563Gln)
c.6009C>A
c.6467C>A (p.Pro2156Gln)
c.705-581C>A (n.705-581C>A)
c.3789C>A
c.6191C>A (p.Pro2064Gln)
c.5903C>A (p.Pro1968Gln)
c.3431C>A (p.Pro1144Gln)
gnomAD v4
19g.35733016C>GCA405428680KMT2Bn.773C>G
c.6401C>G (p.Pro2134Arg)
c.4008C>G (n.4008C>G)
c.1685C>G (p.Pro562Arg)
n.1620C>G
c.1688C>G (p.Pro563Arg)
c.6009C>G
c.6467C>G (p.Pro2156Arg)
c.705-581C>G (n.705-581C>G)
c.3789C>G
c.6191C>G (p.Pro2064Arg)
c.5903C>G (p.Pro1968Arg)
c.3431C>G (p.Pro1144Arg)
ClinVar
19g.35733016C>TCA405428682KMT2Bn.773C>T
c.6401C>T (p.Pro2134Leu)
c.4008C>T (n.4008C>T)
c.1685C>T (p.Pro562Leu)
n.1620C>T
c.1688C>T (p.Pro563Leu)
c.6009C>T
c.6467C>T (p.Pro2156Leu)
c.705-581C>T (n.705-581C>T)
c.3789C>T
c.6191C>T (p.Pro2064Leu)
c.5903C>T (p.Pro1968Leu)
c.3431C>T (p.Pro1144Leu)
19g.35733017A>CCA507309061KMT2Bn.774A>C
c.6402A>C (p.Pro2134=)
c.4009A>C (n.4009A>C)
c.1686A>C (p.Pro562=)
n.1621A>C
c.1689A>C (p.Pro563=)
c.6010A>C
c.6468A>C (p.Pro2156=)
c.705-580A>C (n.705-580A>C)
c.3790A>C
c.6192A>C (p.Pro2064=)
c.5904A>C (p.Pro1968=)
c.3432A>C (p.Pro1144=)
19g.35733017A>GCA507309062KMT2Bn.774A>G
c.6402A>G (p.Pro2134=)
c.4009A>G (n.4009A>G)
c.1686A>G (p.Pro562=)
n.1621A>G
c.1689A>G (p.Pro563=)
c.6010A>G
c.6468A>G (p.Pro2156=)
c.705-580A>G (n.705-580A>G)
c.3790A>G
c.6192A>G (p.Pro2064=)
c.5904A>G (p.Pro1968=)
c.3432A>G (p.Pro1144=)
19g.35733017A>TCA507309063KMT2Bn.774A>T
c.6402A>T (p.Pro2134=)
c.4009A>T (n.4009A>T)
c.1686A>T (p.Pro562=)
n.1621A>T
c.1689A>T (p.Pro563=)
c.6010A>T
c.6468A>T (p.Pro2156=)
c.705-580A>T (n.705-580A>T)
c.3790A>T
c.6192A>T (p.Pro2064=)
c.5904A>T (p.Pro1968=)
c.3432A>T (p.Pro1144=)
19g.35733018G>ACA405428688KMT2Bn.775G>A
c.6403G>A (p.Ala2135Thr)
c.4010G>A (n.4010G>A)
c.1687G>A (p.Ala563Thr)
n.1622G>A
c.1690G>A (p.Ala564Thr)
c.6011G>A
c.6469G>A (p.Ala2157Thr)
c.705-579G>A (n.705-579G>A)
c.3791G>A
c.6193G>A (p.Ala2065Thr)
c.5905G>A (p.Ala1969Thr)
c.3433G>A (p.Ala1145Thr)
gnomAD v4
19g.35733018G>CCA405428691KMT2Bn.775G>C
c.6403G>C (p.Ala2135Pro)
c.4010G>C (n.4010G>C)
c.1687G>C (p.Ala563Pro)
n.1622G>C
c.1690G>C (p.Ala564Pro)
c.6011G>C
c.6469G>C (p.Ala2157Pro)
c.705-579G>C (n.705-579G>C)
c.3791G>C
c.6193G>C (p.Ala2065Pro)
c.5905G>C (p.Ala1969Pro)
c.3433G>C (p.Ala1145Pro)
gnomAD v4
19g.35733018G>TCA405428694KMT2Bn.775G>T
c.6403G>T (p.Ala2135Ser)
c.4010G>T (n.4010G>T)
c.1687G>T (p.Ala563Ser)
n.1622G>T
c.1690G>T (p.Ala564Ser)
c.6011G>T
c.6469G>T (p.Ala2157Ser)
c.705-579G>T (n.705-579G>T)
c.3791G>T
c.6193G>T (p.Ala2065Ser)
c.5905G>T (p.Ala1969Ser)
c.3433G>T (p.Ala1145Ser)
19g.35733019C>ACA405428702KMT2Bn.776C>A
c.6404C>A (p.Ala2135Asp)
c.4011C>A (n.4011C>A)
c.1688C>A (p.Ala563Asp)
n.1623C>A
c.1691C>A (p.Ala564Asp)
c.6012C>A
c.6470C>A (p.Ala2157Asp)
c.705-578C>A (n.705-578C>A)
c.3792C>A
c.6194C>A (p.Ala2065Asp)
c.5906C>A (p.Ala1969Asp)
c.3434C>A (p.Ala1145Asp)
gnomAD v4
19g.35733019C=CA2333794611KMT2Bn.776C=
c.6404C= (p.Ala2135=)
c.4011C= (n.4011C=)
c.1688C= (p.Ala563=)
n.1623C=
c.1691C= (p.Ala564=)
c.6012C=
c.6470C= (p.Ala2157=)
c.705-578C= (n.705-578C=)
c.3792C=
c.6194C= (p.Ala2065=)
c.5906C= (p.Ala1969=)
c.3434C= (p.Ala1145=)
19g.35733019C>GCA405428701KMT2Bn.776C>G
c.6404C>G (p.Ala2135Gly)
c.4011C>G (n.4011C>G)
c.1688C>G (p.Ala563Gly)
n.1623C>G
c.1691C>G (p.Ala564Gly)
c.6012C>G
c.6470C>G (p.Ala2157Gly)
c.705-578C>G (n.705-578C>G)
c.3792C>G
c.6194C>G (p.Ala2065Gly)
c.5906C>G (p.Ala1969Gly)
c.3434C>G (p.Ala1145Gly)
dbSNP
19g.35733019C>TCA405428698KMT2Bn.776C>T
c.6404C>T (p.Ala2135Val)
c.4011C>T (n.4011C>T)
c.1688C>T (p.Ala563Val)
n.1623C>T
c.1691C>T (p.Ala564Val)
c.6012C>T
c.6470C>T (p.Ala2157Val)
c.705-578C>T (n.705-578C>T)
c.3792C>T
c.6194C>T (p.Ala2065Val)
c.5906C>T (p.Ala1969Val)
c.3434C>T (p.Ala1145Val)
dbSNP gnomAD v2 gnomAD v4
19g.35733020T>ACA507309069KMT2Bn.777T>A
c.6405T>A (p.Ala2135=)
c.4012T>A (n.4012T>A)
c.1689T>A (p.Ala563=)
n.1624T>A
c.1692T>A (p.Ala564=)
c.6013T>A
c.6471T>A (p.Ala2157=)
c.705-577T>A (n.705-577T>A)
c.3793T>A
c.6195T>A (p.Ala2065=)
c.5907T>A (p.Ala1969=)
c.3435T>A (p.Ala1145=)
19g.35733020T>CCA507309071KMT2Bn.777T>C
c.6405T>C (p.Ala2135=)
c.4012T>C (n.4012T>C)
c.1689T>C (p.Ala563=)
n.1624T>C
c.1692T>C (p.Ala564=)
c.6013T>C
c.6471T>C (p.Ala2157=)
c.705-577T>C (n.705-577T>C)
c.3793T>C
c.6195T>C (p.Ala2065=)
c.5907T>C (p.Ala1969=)
c.3435T>C (p.Ala1145=)
dbSNP gnomAD v2
19g.35733020T>GCA507309072KMT2Bn.777T>G
c.6405T>G (p.Ala2135=)
c.4012T>G (n.4012T>G)
c.1689T>G (p.Ala563=)
n.1624T>G
c.1692T>G (p.Ala564=)
c.6013T>G
c.6471T>G (p.Ala2157=)
c.705-577T>G (n.705-577T>G)
c.3793T>G
c.6195T>G (p.Ala2065=)
c.5907T>G (p.Ala1969=)
c.3435T>G (p.Ala1145=)
19g.35733020T=CA2333794612KMT2Bn.777T=
c.6405T= (p.Ala2135=)
c.4012T= (n.4012T=)
c.1689T= (p.Ala563=)
n.1624T=
c.1692T= (p.Ala564=)
c.6013T=
c.6471T= (p.Ala2157=)
c.705-577T= (n.705-577T=)
c.3793T=
c.6195T= (p.Ala2065=)
c.5907T= (p.Ala1969=)
c.3435T= (p.Ala1145=)
19g.35733021G>ACA405428709KMT2Bn.778G>A
c.6406G>A (p.Asp2136Asn)
c.4013G>A (n.4013G>A)
c.1690G>A (p.Asp564Asn)
n.1625G>A
c.1693G>A (p.Asp565Asn)
c.6014G>A
c.6472G>A (p.Asp2158Asn)
c.705-576G>A (n.705-576G>A)
c.3794G>A
c.6196G>A (p.Asp2066Asn)
c.5908G>A (p.Asp1970Asn)
c.3436G>A (p.Asp1146Asn)
19g.35733021G>CCA405428706KMT2Bn.778G>C
c.6406G>C (p.Asp2136His)
c.4013G>C (n.4013G>C)
c.1690G>C (p.Asp564His)
n.1625G>C
c.1693G>C (p.Asp565His)
c.6014G>C
c.6472G>C (p.Asp2158His)
c.705-576G>C (n.705-576G>C)
c.3794G>C
c.6196G>C (p.Asp2066His)
c.5908G>C (p.Asp1970His)
c.3436G>C (p.Asp1146His)
19g.35733021G>TCA405428712KMT2Bn.778G>T
c.6406G>T (p.Asp2136Tyr)
c.4013G>T (n.4013G>T)
c.1690G>T (p.Asp564Tyr)
n.1625G>T
c.1693G>T (p.Asp565Tyr)
c.6014G>T
c.6472G>T (p.Asp2158Tyr)
c.705-576G>T (n.705-576G>T)
c.3794G>T
c.6196G>T (p.Asp2066Tyr)
c.5908G>T (p.Asp1970Tyr)
c.3436G>T (p.Asp1146Tyr)
gnomAD v4
19g.35733022A>CCA405428717KMT2Bn.779A>C
c.6407A>C (p.Asp2136Ala)
c.4014A>C (n.4014A>C)
c.1691A>C (p.Asp564Ala)
n.1626A>C
c.1694A>C (p.Asp565Ala)
c.6015A>C
c.6473A>C (p.Asp2158Ala)
c.705-575A>C (n.705-575A>C)
c.3795A>C
c.6197A>C (p.Asp2066Ala)
c.5909A>C (p.Asp1970Ala)
c.3437A>C (p.Asp1146Ala)
19g.35733022A>GCA405428722KMT2Bn.779A>G
c.6407A>G (p.Asp2136Gly)
c.4014A>G (n.4014A>G)
c.1691A>G (p.Asp564Gly)
n.1626A>G
c.1694A>G (p.Asp565Gly)
c.6015A>G
c.6473A>G (p.Asp2158Gly)
c.705-575A>G (n.705-575A>G)
c.3795A>G
c.6197A>G (p.Asp2066Gly)
c.5909A>G (p.Asp1970Gly)
c.3437A>G (p.Asp1146Gly)
gnomAD v4
19g.35733022A>TCA405428719KMT2Bn.779A>T
c.6407A>T (p.Asp2136Val)
c.4014A>T (n.4014A>T)
c.1691A>T (p.Asp564Val)
n.1626A>T
c.1694A>T (p.Asp565Val)
c.6015A>T
c.6473A>T (p.Asp2158Val)
c.705-575A>T (n.705-575A>T)
c.3795A>T
c.6197A>T (p.Asp2066Val)
c.5909A>T (p.Asp1970Val)
c.3437A>T (p.Asp1146Val)
19g.35733023C>ACA405428728KMT2Bn.780C>A
c.6408C>A (p.Asp2136Glu)
c.4015C>A (n.4015C>A)
c.1692C>A (p.Asp564Glu)
n.1627C>A
c.1695C>A (p.Asp565Glu)
c.6016C>A
c.6474C>A (p.Asp2158Glu)
c.705-574C>A (n.705-574C>A)
c.3796C>A
c.6198C>A (p.Asp2066Glu)
c.5910C>A (p.Asp1970Glu)
c.3438C>A (p.Asp1146Glu)
19g.35733023C=CA2333794613KMT2Bn.780C=
c.6408C= (p.Asp2136=)
c.4015C= (n.4015C=)
c.1692C= (p.Asp564=)
n.1627C=
c.1695C= (p.Asp565=)
c.6016C=
c.6474C= (p.Asp2158=)
c.705-574C= (n.705-574C=)
c.3796C=
c.6198C= (p.Asp2066=)
c.5910C= (p.Asp1970=)
c.3438C= (p.Asp1146=)
19g.35733023C>GCA405428731KMT2Bn.780C>G
c.6408C>G (p.Asp2136Glu)
c.4015C>G (n.4015C>G)
c.1692C>G (p.Asp564Glu)
n.1627C>G
c.1695C>G (p.Asp565Glu)
c.6016C>G
c.6474C>G (p.Asp2158Glu)
c.705-574C>G (n.705-574C>G)
c.3796C>G
c.6198C>G (p.Asp2066Glu)
c.5910C>G (p.Asp1970Glu)
c.3438C>G (p.Asp1146Glu)
19g.35733023C>TCA9385694KMT2Bn.780C>T
c.6408C>T (p.Asp2136=)
c.4015C>T (n.4015C>T)
c.1692C>T (p.Asp564=)
n.1627C>T
c.1695C>T (p.Asp565=)
c.6016C>T
c.6474C>T (p.Asp2158=)
c.705-574C>T (n.705-574C>T)
c.3796C>T
c.6198C>T (p.Asp2066=)
c.5910C>T (p.Asp1970=)
c.3438C>T (p.Asp1146=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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)

Number of alleles fetched