Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35732949_35732951del | CA2814254940 | KMT2B | n.706_708del c.6334_6336del (p.Glu2112del) c.3941_3943del (n.3941_3943del) c.1618_1620del (p.Glu540del) n.1553_1555del c.1621_1623del (p.Glu541del) c.5942_5944del c.6400_6402del (p.Glu2134del) c.704+620_704+622del (n.704+620_704+622del) c.3722_3724del c.6124_6126del (p.Glu2042del) c.5836_5838del (p.Glu1946del) c.3364_3366del (p.Glu1122del) | |
19 | g.35732951G>A | CA507308799 | KMT2B | n.708G>A c.6336G>A (p.Glu2112=) c.3943G>A (n.3943G>A) c.1620G>A (p.Glu540=) n.1555G>A c.1623G>A (p.Glu541=) c.5944G>A c.6402G>A (p.Glu2134=) c.704+622G>A (n.704+622G>A) c.3724G>A c.6126G>A (p.Glu2042=) c.5838G>A (p.Glu1946=) c.3366G>A (p.Glu1122=) | |
19 | g.35732951G>C | CA405428295 | KMT2B | n.708G>C c.6336G>C (p.Glu2112Asp) c.3943G>C (n.3943G>C) c.1620G>C (p.Glu540Asp) n.1555G>C c.1623G>C (p.Glu541Asp) c.5944G>C c.6402G>C (p.Glu2134Asp) c.704+622G>C (n.704+622G>C) c.3724G>C c.6126G>C (p.Glu2042Asp) c.5838G>C (p.Glu1946Asp) c.3366G>C (p.Glu1122Asp) | |
19 | g.35732951G>T | CA405428298 | KMT2B | n.708G>T c.6336G>T (p.Glu2112Asp) c.3943G>T (n.3943G>T) c.1620G>T (p.Glu540Asp) n.1555G>T c.1623G>T (p.Glu541Asp) c.5944G>T c.6402G>T (p.Glu2134Asp) c.704+622G>T (n.704+622G>T) c.3724G>T c.6126G>T (p.Glu2042Asp) c.5838G>T (p.Glu1946Asp) c.3366G>T (p.Glu1122Asp) | |
19 | g.35732952T>A | CA405428302 | KMT2B | n.709T>A c.6337T>A (p.Ser2113Thr) c.3944T>A (n.3944T>A) c.1621T>A (p.Ser541Thr) n.1556T>A c.1624T>A (p.Ser542Thr) c.5945T>A c.6403T>A (p.Ser2135Thr) c.704+623T>A (n.704+623T>A) c.3725T>A c.6127T>A (p.Ser2043Thr) c.5839T>A (p.Ser1947Thr) c.3367T>A (p.Ser1123Thr) | |
19 | g.35732952T>C | CA405428303 | KMT2B | n.709T>C c.6337T>C (p.Ser2113Pro) c.3944T>C (n.3944T>C) c.1621T>C (p.Ser541Pro) n.1556T>C c.1624T>C (p.Ser542Pro) c.5945T>C c.6403T>C (p.Ser2135Pro) c.704+623T>C (n.704+623T>C) c.3725T>C c.6127T>C (p.Ser2043Pro) c.5839T>C (p.Ser1947Pro) c.3367T>C (p.Ser1123Pro) | |
19 | g.35732952T>G | CA405428307 | KMT2B | n.709T>G c.6337T>G (p.Ser2113Ala) c.3944T>G (n.3944T>G) c.1621T>G (p.Ser541Ala) n.1556T>G c.1624T>G (p.Ser542Ala) c.5945T>G c.6403T>G (p.Ser2135Ala) c.704+623T>G (n.704+623T>G) c.3725T>G c.6127T>G (p.Ser2043Ala) c.5839T>G (p.Ser1947Ala) c.3367T>G (p.Ser1123Ala) | |
19 | g.35732953C>A | CA405428311 | KMT2B | n.710C>A c.6338C>A (p.Ser2113Ter) c.3945C>A (n.3945C>A) c.1622C>A (p.Ser541Ter) n.1557C>A c.1625C>A (p.Ser542Ter) c.5946C>A c.6404C>A (p.Ser2135Ter) c.704+624C>A (n.704+624C>A) c.3726C>A c.6128C>A (p.Ser2043Ter) c.5840C>A (p.Ser1947Ter) c.3368C>A (p.Ser1123Ter) | |
19 | g.35732953C>G | CA405428312 | KMT2B | n.710C>G c.6338C>G (p.Ser2113Ter) c.3945C>G (n.3945C>G) c.1622C>G (p.Ser541Ter) n.1557C>G c.1625C>G (p.Ser542Ter) c.5946C>G c.6404C>G (p.Ser2135Ter) c.704+624C>G (n.704+624C>G) c.3726C>G c.6128C>G (p.Ser2043Ter) c.5840C>G (p.Ser1947Ter) c.3368C>G (p.Ser1123Ter) | |
19 | g.35732953C>T | CA405428316 | KMT2B | n.710C>T c.6338C>T (p.Ser2113Leu) c.3945C>T (n.3945C>T) c.1622C>T (p.Ser541Leu) n.1557C>T c.1625C>T (p.Ser542Leu) c.5946C>T c.6404C>T (p.Ser2135Leu) c.704+624C>T (n.704+624C>T) c.3726C>T c.6128C>T (p.Ser2043Leu) c.5840C>T (p.Ser1947Leu) c.3368C>T (p.Ser1123Leu) | |
19 | g.35732954A= | CA2333794575 | KMT2B | n.711A= c.6339A= (p.Ser2113=) c.3946A= (n.3946A=) c.1623A= (p.Ser541=) n.1558A= c.1626A= (p.Ser542=) c.5947A= c.6405A= (p.Ser2135=) c.704+625A= (n.704+625A=) c.3727A= c.6129A= (p.Ser2043=) c.5841A= (p.Ser1947=) c.3369A= (p.Ser1123=) | |
19 | g.35732954A>C | CA507308803 | KMT2B | n.711A>C c.6339A>C (p.Ser2113=) c.3946A>C (n.3946A>C) c.1623A>C (p.Ser541=) n.1558A>C c.1626A>C (p.Ser542=) c.5947A>C c.6405A>C (p.Ser2135=) c.704+625A>C (n.704+625A>C) c.3727A>C c.6129A>C (p.Ser2043=) c.5841A>C (p.Ser1947=) c.3369A>C (p.Ser1123=) | |
19 | g.35732954A>G | CA9385678 | KMT2B | n.711A>G c.6339A>G (p.Ser2113=) c.3946A>G (n.3946A>G) c.1623A>G (p.Ser541=) n.1558A>G c.1626A>G (p.Ser542=) c.5947A>G c.6405A>G (p.Ser2135=) c.704+625A>G (n.704+625A>G) c.3727A>G c.6129A>G (p.Ser2043=) c.5841A>G (p.Ser1947=) c.3369A>G (p.Ser1123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732954A>T | CA507308807 | KMT2B | n.711A>T c.6339A>T (p.Ser2113=) c.3946A>T (n.3946A>T) c.1623A>T (p.Ser541=) n.1558A>T c.1626A>T (p.Ser542=) c.5947A>T c.6405A>T (p.Ser2135=) c.704+625A>T (n.704+625A>T) c.3727A>T c.6129A>T (p.Ser2043=) c.5841A>T (p.Ser1947=) c.3369A>T (p.Ser1123=) | |
19 | g.35732954_35732955delinsAC | CA2333794576 | KMT2B | n.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=) | |
19 | g.35732955del | CA16043946 | KMT2B | n.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 |
19 | g.35732955C>A | CA405428329 | KMT2B | n.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) | |
19 | g.35732955C>G | CA405428327 | KMT2B | n.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) | |
19 | g.35732955C>T | CA405428324 | KMT2B | n.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 |
19 | g.35732956T>A | CA405428332 | KMT2B | n.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 |
19 | g.35732956T>C | CA405428335 | KMT2B | n.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 |
19 | g.35732956T>G | CA405428337 | KMT2B | n.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 |
19 | g.35732956T= | CA2333794577 | KMT2B | n.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=) | |
19 | g.35732957C>A | CA507308829 | KMT2B | n.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=) | |
19 | g.35732957C= | CA2333794578 | KMT2B | n.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=) | |
19 | g.35732957C>G | CA507308831 | KMT2B | n.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 |
19 | g.35732957C>T | CA507308832 | KMT2B | n.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 |
19 | g.35732962dup | CA9385679 | KMT2B | n.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 |
19 | g.35732962del | CA645604595 | KMT2B | n.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 |
19 | g.35732958C>A | CA405428343 | KMT2B | n.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 |
19 | g.35732958C= | CA2333794579 | KMT2B | n.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=) | |
19 | g.35732958C>G | CA405428345 | KMT2B | n.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 |
19 | g.35732958C>T | CA9385680 | KMT2B | n.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 |
19 | g.35732959C>A | CA405428351 | KMT2B | n.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) | |
19 | g.35732959C>G | CA405428353 | KMT2B | n.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) | |
19 | g.35732959C>T | CA405428355 | KMT2B | n.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) | |
19 | g.35732960C>A | CA9385681 | KMT2B | n.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 |
19 | g.35732960C= | CA2333794580 | KMT2B | n.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=) | |
19 | g.35732960C>G | CA507308847 | KMT2B | n.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 |
19 | g.35732960C>T | CA507308845 | KMT2B | n.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 |
19 | g.35732961C>A | CA9385682 | KMT2B | n.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 |
19 | g.35732961C= | CA2333794581 | KMT2B | n.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=) | |
19 | g.35732961C>G | CA405428363 | KMT2B | n.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) | |
19 | g.35732961C>T | CA405428360 | KMT2B | n.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 |
19 | g.35732962C>A | CA9385683 | KMT2B | n.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 |
19 | g.35732962C= | CA2333794582 | KMT2B | n.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=) | |
19 | g.35732962C>G | CA9385685 | KMT2B | n.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 |
19 | g.35732962C>T | CA9385684 | KMT2B | n.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 |
19 | g.35732963G>A | CA9385686 | KMT2B | n.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 |
19 | g.35732963G>C | CA507308861 | KMT2B | n.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=) | |
19 | g.35732963G= | CA2333794583 | KMT2B | n.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=) | |
19 | g.35732963G>T | CA507308864 | KMT2B | n.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 |
19 | g.35732964G>A | CA405428380 | KMT2B | n.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) | |
19 | g.35732964G>C | CA405428377 | KMT2B | n.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) | |
19 | g.35732964G= | CA2333794584 | KMT2B | n.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=) | |
19 | g.35732964G>T | CA405428382 | KMT2B | n.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 |
19 | g.35732965C>A | CA405428387 | KMT2B | n.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 |
19 | g.35732965C= | CA2333794585 | KMT2B | n.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=) | |
19 | g.35732965C>G | CA405428388 | KMT2B | n.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 |
19 | g.35732965C>T | CA405428390 | KMT2B | n.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 |
19 | g.35732966G>A | CA507308873 | KMT2B | n.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 |
19 | g.35732966G>C | CA507308884 | KMT2B | n.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=) | |
19 | g.35732966G= | CA2333794586 | KMT2B | n.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=) | |
19 | g.35732966G>T | CA507308882 | KMT2B | n.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 |
19 | g.35732967C>A | CA405428393 | KMT2B | n.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) | |
19 | g.35732967C>G | CA405428396 | KMT2B | n.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) | |
19 | g.35732967C>T | CA405428399 | KMT2B | n.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) | |
19 | g.35732968C>A | CA405428401 | KMT2B | n.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) | |
19 | g.35732968C>G | CA405428403 | KMT2B | n.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) | |
19 | g.35732968C>T | CA405428406 | KMT2B | n.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) | |
19 | g.35732969T>A | CA507308892 | KMT2B | n.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 |
19 | g.35732969T>C | CA507308894 | KMT2B | n.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 |
19 | g.35732969T>G | CA507308897 | KMT2B | n.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=) | |
19 | g.35732969T= | CA2333794587 | KMT2B | n.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=) | |
19 | g.35732970C>A | CA405428410 | KMT2B | n.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 |
19 | g.35732970C= | CA2333794588 | KMT2B | n.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=) | |
19 | g.35732970C>G | CA405428412 | KMT2B | n.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 |
19 | g.35732970C>T | CA405428414 | KMT2B | n.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 |
19 | g.35732973del | CA2584575163 | KMT2B | n.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 |
19 | g.35732971C>A | CA405428424 | KMT2B | n.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 |
19 | g.35732971C= | CA2333794589 | KMT2B | n.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=) | |
19 | g.35732971C>G | CA405428419 | KMT2B | n.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 |
19 | g.35732971C>T | CA405428420 | KMT2B | n.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) | |
19 | g.35732972C>A | CA507308902 | KMT2B | n.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 |
19 | g.35732972C>G | CA507308904 | KMT2B | n.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=) | |
19 | g.35732972C>T | CA507308905 | KMT2B | n.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=) | |
19 | g.35732973C>A | CA405428427 | KMT2B | n.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 |
19 | g.35732973C= | CA2333794590 | KMT2B | n.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=) | |
19 | g.35732973C>G | CA405428429 | KMT2B | n.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 |
19 | g.35732973C>T | CA507308908 | KMT2B | n.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 |
19 | g.35732974T>A | CA405428431 | KMT2B | n.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 |
19 | g.35732974T>C | CA405428434 | KMT2B | n.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 |
19 | g.35732974T>G | CA405428437 | KMT2B | n.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) | |
19 | g.35732975G>A | CA507308912 | KMT2B | n.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 |
19 | g.35732975G>C | CA507308913 | KMT2B | n.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=) | |
19 | g.35732975G>T | CA507308914 | KMT2B | n.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=) | |
19 | g.35732976G>A | CA405428440 | KMT2B | n.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 |
19 | g.35732976G>C | CA9385687 | KMT2B | n.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 |
19 | g.35732976G= | CA2333794591 | KMT2B | n.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=) | |
19 | g.35732976G>T | CA405428445 | KMT2B | n.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 |
19 | g.35732977C>A | CA307796795 | KMT2B | n.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 |
19 | g.35732977C= | CA2333794592 | KMT2B | n.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=) | |
19 | g.35732977C>G | CA405428447 | KMT2B | n.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 |
19 | g.35732977C>T | CA405428452 | KMT2B | n.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 |
19 | g.35732978T>A | CA507308920 | KMT2B | n.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=) | |
19 | g.35732978T>C | CA507308922 | KMT2B | n.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 |
19 | g.35732978T>G | CA507308924 | KMT2B | n.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=) | |
19 | g.35732978T= | CA2333794593 | KMT2B | n.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=) | |
19 | g.35732979A= | CA2333794594 | KMT2B | n.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=) | |
19 | g.35732979A>C | CA405428458 | KMT2B | n.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) | |
19 | g.35732979A>G | CA405428456 | KMT2B | n.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 |
19 | g.35732979A>T | CA405428454 | KMT2B | n.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) | |
19 | g.35732980A>C | CA405428461 | KMT2B | n.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) | |
19 | g.35732980A>G | CA405428462 | KMT2B | n.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) | |
19 | g.35732980A>T | CA405428465 | KMT2B | n.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) | |
19 | g.35732981T>A | CA405428466 | KMT2B | n.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) | |
19 | g.35732981T>C | CA507308934 | KMT2B | n.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 |
19 | g.35732981T>G | CA405428467 | KMT2B | n.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) | |
19 | g.35732982G>A | CA405428473 | KMT2B | n.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 |
19 | g.35732982G>C | CA405428471 | KMT2B | n.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) | |
19 | g.35732982G= | CA2333794595 | KMT2B | n.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=) | |
19 | g.35732982G>T | CA405428469 | KMT2B | n.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 |
19 | g.35732983G>A | CA405428476 | KMT2B | n.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 |
19 | g.35732983G>C | CA405428479 | KMT2B | n.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) | |
19 | g.35732983G= | CA2333794596 | KMT2B | n.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=) | |
19 | g.35732983G>T | CA405428480 | KMT2B | n.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 |
19 | g.35732984C>A | CA507308943 | KMT2B | n.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 |
19 | g.35732984C= | CA2333794597 | KMT2B | n.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=) | |
19 | g.35732984C>G | CA507308945 | KMT2B | n.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=) | |
19 | g.35732984C>T | CA507308946 | KMT2B | n.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 |
19 | g.35732985A>C | CA405428482 | KMT2B | n.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) | |
19 | g.35732985A>G | CA405428485 | KMT2B | n.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) | |
19 | g.35732985A>T | CA405428487 | KMT2B | n.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) | |
19 | g.35732986G>A | CA405428489 | KMT2B | n.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 |
19 | g.35732986G>C | CA405428492 | KMT2B | n.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) | |
19 | g.35732986G= | CA2333794598 | KMT2B | n.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=) | |
19 | g.35732986G>T | CA405428491 | KMT2B | n.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 |
19 | g.35732987C>A | CA405428496 | KMT2B | n.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 |
19 | g.35732987C>G | CA405428499 | KMT2B | n.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) | |
19 | g.35732987C>T | CA507308953 | KMT2B | n.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 |
19 | g.35732988C>A | CA405428501 | KMT2B | n.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) | |
19 | g.35732988C>G | CA405428503 | KMT2B | n.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) | |
19 | g.35732988C>T | CA405428505 | KMT2B | n.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 |
19 | g.35732989A>C | CA405428508 | KMT2B | n.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) | |
19 | g.35732989A>G | CA405428511 | KMT2B | n.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) | |
19 | g.35732989A>T | CA405428512 | KMT2B | n.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) | |
19 | g.35732990G>A | CA507308972 | KMT2B | n.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=) | |
19 | g.35732990G>C | CA405428515 | KMT2B | n.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) | |
19 | g.35732990G>T | CA405428518 | KMT2B | n.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) | |
19 | g.35732991C>A | CA405428526 | KMT2B | n.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 |
19 | g.35732991C= | CA2333794599 | KMT2B | n.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=) | |
19 | g.35732991C>G | CA405428523 | KMT2B | n.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) | |
19 | g.35732991C>T | CA405428522 | KMT2B | n.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 |
19 | g.35732992C>A | CA405428529 | KMT2B | n.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 |
19 | g.35732992C= | CA2333794600 | KMT2B | n.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=) | |
19 | g.35732992C>G | CA9385688 | KMT2B | n.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 |
19 | g.35732992C>T | CA405428539 | KMT2B | n.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 |
19 | g.35732993C>A | CA507308978 | KMT2B | n.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 |
19 | g.35732993C>G | CA507308980 | KMT2B | n.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=) | |
19 | g.35732993C>T | CA507308979 | KMT2B | n.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 |
19 | g.35732994T>A | CA405428544 | KMT2B | n.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) | |
19 | g.35732994T>C | CA405428545 | KMT2B | n.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) | |
19 | g.35732994T>G | CA405428546 | KMT2B | n.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) | |
19 | g.35732995C>A | CA405428550 | KMT2B | n.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) | |
19 | g.35732995C>G | CA405428548 | KMT2B | n.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) | |
19 | g.35732995C>T | CA405428547 | KMT2B | n.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 |
19 | g.35732997del | CA645604596 | KMT2B | n.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 |
19 | g.35732996C>A | CA507308985 | KMT2B | n.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=) | |
19 | g.35732996C>G | CA507308988 | KMT2B | n.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=) | |
19 | g.35732996C>T | CA507308990 | KMT2B | n.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 |
19 | g.35732997C>A | CA405428554 | KMT2B | n.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 |
19 | g.35732997C>G | CA405428557 | KMT2B | n.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 |
19 | g.35732997C>T | CA405428560 | KMT2B | n.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) | |
19 | g.35732998A= | CA2333794601 | KMT2B | n.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=) | |
19 | g.35732998A>C | CA405428563 | KMT2B | n.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) | |
19 | g.35732998A>G | CA405428566 | KMT2B | n.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 |
19 | g.35732998A>T | CA405428569 | KMT2B | n.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) | |
19 | g.35732999A= | CA2333794602 | KMT2B | n.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=) | |
19 | g.35732999A>C | CA9385689 | KMT2B | n.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 |
19 | g.35732999A>G | CA9385690 | KMT2B | n.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 |
19 | g.35732999A>T | CA405428575 | KMT2B | n.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) | |
19 | g.35733000G>A | CA405428580 | KMT2B | n.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) | |
19 | g.35733000G>C | CA405428590 | KMT2B | n.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) | |
19 | g.35733000G>T | CA405428596 | KMT2B | n.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) | |
19 | g.35733001G>A | CA9385691 | KMT2B | n.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 |
19 | g.35733001G>C | CA405428602 | KMT2B | n.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) | |
19 | g.35733001G= | CA2333794603 | KMT2B | n.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=) | |
19 | g.35733001G>T | CA405428604 | KMT2B | n.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 |
19 | g.35733002C>A | CA507309011 | KMT2B | n.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=) | |
19 | g.35733002C= | CA2333794604 | KMT2B | n.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=) | |
19 | g.35733002C>G | CA507309012 | KMT2B | n.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=) | |
19 | g.35733002C>T | CA507309013 | KMT2B | n.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 |
19 | g.35733003C>A | CA405428608 | KMT2B | n.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 |
19 | g.35733003C>G | CA405428611 | KMT2B | n.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) | |
19 | g.35733003C>T | CA507309015 | KMT2B | n.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=) | |
19 | g.35733004T>A | CA405428615 | KMT2B | n.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) | |
19 | g.35733004T>C | CA405428617 | KMT2B | n.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 |
19 | g.35733004T>G | CA405428618 | KMT2B | n.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) | |
19 | g.35733005G>A | CA507309022 | KMT2B | n.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=) | |
19 | g.35733005G>C | CA507309023 | KMT2B | n.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=) | |
19 | g.35733005G>T | CA507309024 | KMT2B | n.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 |
19 | g.35733005_35733006del | CA2507100180 | KMT2B | n.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) | |
19 | g.35733006A= | CA2333794605 | KMT2B | n.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=) | |
19 | g.35733006A>C | CA405428622 | KMT2B | n.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) | |
19 | g.35733006A>G | CA405428629 | KMT2B | n.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 |
19 | g.35733006A>T | CA405428626 | KMT2B | n.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) | |
19 | g.35733007C>A | CA405428630 | KMT2B | n.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 |
19 | g.35733007C>G | CA405428631 | KMT2B | n.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) | |
19 | g.35733007C>T | CA405428632 | KMT2B | n.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 |
19 | g.35733008C>A | CA507309037 | KMT2B | n.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 |
19 | g.35733008C= | CA2333794606 | KMT2B | n.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=) | |
19 | g.35733008C>G | CA507309042 | KMT2B | n.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=) | |
19 | g.35733008C>T | CA9385692 | KMT2B | n.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 |
19 | g.35733009G>A | CA9385693 | KMT2B | n.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 |
19 | g.35733009G>C | CA405428639 | KMT2B | n.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) | |
19 | g.35733009G= | CA2333794607 | KMT2B | n.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=) | |
19 | g.35733009G>T | CA405428642 | KMT2B | n.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 |
19 | g.35733010C>A | CA405428646 | KMT2B | n.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 |
19 | g.35733010C>G | CA405428649 | KMT2B | n.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) | |
19 | g.35733010C>T | CA405428652 | KMT2B | n.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 |
19 | g.35733011C>A | CA507309048 | KMT2B | n.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=) | |
19 | g.35733011C= | CA2333794608 | KMT2B | n.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=) | |
19 | g.35733011C>G | CA507309049 | KMT2B | n.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=) | |
19 | g.35733011C>T | CA507309050 | KMT2B | n.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 |
19 | g.35733012A>C | CA405428653 | KMT2B | n.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) | |
19 | g.35733012A>G | CA405428655 | KMT2B | n.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) | |
19 | g.35733012A>T | CA405428658 | KMT2B | n.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) | |
19 | g.35733013G>A | CA405428661 | KMT2B | n.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) | |
19 | g.35733013G>C | CA405428663 | KMT2B | n.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) | |
19 | g.35733013G>T | CA405428662 | KMT2B | n.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 |
19 | g.35733014C>A | CA405428664 | KMT2B | n.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 |
19 | g.35733014C= | CA2333794609 | KMT2B | n.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=) | |
19 | g.35733014C>G | CA405428665 | KMT2B | n.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 |
19 | g.35733014C>T | CA507309057 | KMT2B | n.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=) | |
19 | g.35733015C>A | CA405428670 | KMT2B | n.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 |
19 | g.35733015C= | CA2333794610 | KMT2B | n.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=) | |
19 | g.35733015C>G | CA405428671 | KMT2B | n.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) | |
19 | g.35733015C>T | CA405428673 | KMT2B | n.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 |
19 | g.35733016C>A | CA405428677 | KMT2B | n.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 |
19 | g.35733016C>G | CA405428680 | KMT2B | n.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 |
19 | g.35733016C>T | CA405428682 | KMT2B | n.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) | |
19 | g.35733017A>C | CA507309061 | KMT2B | n.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=) | |
19 | g.35733017A>G | CA507309062 | KMT2B | n.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=) | |
19 | g.35733017A>T | CA507309063 | KMT2B | n.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=) | |
19 | g.35733018G>A | CA405428688 | KMT2B | n.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 |
19 | g.35733018G>C | CA405428691 | KMT2B | n.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 |
19 | g.35733018G>T | CA405428694 | KMT2B | n.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) | |
19 | g.35733019C>A | CA405428702 | KMT2B | n.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 |
19 | g.35733019C= | CA2333794611 | KMT2B | n.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=) | |
19 | g.35733019C>G | CA405428701 | KMT2B | n.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 |
19 | g.35733019C>T | CA405428698 | KMT2B | n.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 |
19 | g.35733020T>A | CA507309069 | KMT2B | n.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=) | |
19 | g.35733020T>C | CA507309071 | KMT2B | n.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 |
19 | g.35733020T>G | CA507309072 | KMT2B | n.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=) | |
19 | g.35733020T= | CA2333794612 | KMT2B | n.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=) | |
19 | g.35733021G>A | CA405428709 | KMT2B | n.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) | |
19 | g.35733021G>C | CA405428706 | KMT2B | n.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) | |
19 | g.35733021G>T | CA405428712 | KMT2B | n.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 |
19 | g.35733022A>C | CA405428717 | KMT2B | n.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) | |
19 | g.35733022A>G | CA405428722 | KMT2B | n.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 |
19 | g.35733022A>T | CA405428719 | KMT2B | n.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) | |
19 | g.35733023C>A | CA405428728 | KMT2B | n.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) | |
19 | g.35733023C= | CA2333794613 | KMT2B | n.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=) | |
19 | g.35733023C>G | CA405428731 | KMT2B | n.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) | |
19 | g.35733023C>T | CA9385694 | KMT2B | n.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 |
19 | g.35733024C>A | CA405428734 | KMT2B | n.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) | |
19 | g.35733024C= | CA2333794614 | KMT2B | n.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=) | |
19 | g.35733024C>G | CA9385695 | KMT2B | n.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 |
19 | g.35733024C>T | CA405428737 | KMT2B | n.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 |
19 | g.35733025C>A | CA405428742 | KMT2B | n.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 |
19 | g.35733025C>G | CA405428744 | KMT2B | n.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) | |
19 | g.35733025C>T | CA405428746 | KMT2B | n.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 |
19 | g.35733026C>A | CA507309092 | KMT2B | n.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 |
19 | g.35733026C= | CA2333794615 | KMT2B | n.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=) | |
19 | g.35733026C>G | CA507309093 | KMT2B | n.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=) | |
19 | g.35733026C>T | CA9385696 | KMT2B | n.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 |
19 | g.35733027A>C | CA405428750 | KMT2B | n.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) | |
19 | g.35733027A>G | CA405428753 | KMT2B | n.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) | |
19 | g.35733027A>T | CA405428755 | KMT2B | n.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) | |
19 | g.35733028C>A | CA405428759 | KMT2B | n.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 |
19 | g.35733028C>G | CA405428770 | KMT2B | n.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 |
19 | g.35733028C>T | CA405428767 | KMT2B | n.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 |
19 | g.35733029C>A | CA507309101 | KMT2B | n.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=) | |
19 | g.35733029C>G | CA507309103 | KMT2B | n.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=) | |
19 | g.35733029C>T | CA507309100 | KMT2B | n.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=) | |
19 | g.35733030C>A | CA405428773 | KMT2B | n.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 |
19 | g.35733030C= | CA2333794616 | KMT2B | n.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=) | |
19 | g.35733030C>G | CA405428777 | KMT2B | n.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 |
19 | g.35733030C>T | CA9385697 | KMT2B | n.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 |
19 | g.35733031G>A | CA9385698 | KMT2B | n.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 |
19 | g.35733031G>C | CA405428783 | KMT2B | n.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 |
19 | g.35733031G= | CA2333794617 | KMT2B | n.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=) | |
19 | g.35733031G>T | CA405428786 | KMT2B | n.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) | |
19 | g.35733032C>A | CA507309116 | KMT2B | n.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 |
19 | g.35733032C= | CA2333794618 | KMT2B | n.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=) | |
19 | g.35733032C>G | CA507309111 | KMT2B | n.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=) | |
19 | g.35733032C>T | CA507309113 | KMT2B | n.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 |
19 | g.35733033A>C | CA405428789 | KMT2B | n.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 |
19 | g.35733033A>G | CA405428791 | KMT2B | n.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 |
19 | g.35733033A>T | CA405428795 | KMT2B | n.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) | |
19 | g.35733034C>A | CA405428804 | KMT2B | n.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) | |
19 | g.35733034C= | CA2333794619 | KMT2B | n.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=) | |
19 | g.35733034C>G | CA405428801 | KMT2B | n.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) | |
19 | g.35733034C>T | CA9385699 | KMT2B | n.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 |
19 | g.35733035A= | CA2333794620 | KMT2B | n.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=) | |
19 | g.35733035A>C | CA507309129 | KMT2B | n.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=) | |
19 | g.35733035A>G | CA507309134 | KMT2B | n.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=) | |
19 | g.35733035A>T | CA507309132 | KMT2B | n.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 |
19 | g.35733036T>A | CA405428808 | KMT2B | n.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) | |
19 | g.35733036T>C | CA405428811 | KMT2B | n.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) | |
19 | g.35733036T>G | CA405428814 | KMT2B | n.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 |
19 | g.35733037T>A | CA9385700 | KMT2B | n.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 |
19 | g.35733037T>C | CA405428818 | KMT2B | n.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) | |
19 | g.35733037T>G | CA405428821 | KMT2B | n.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 |
19 | g.35733037T= | CA2333794621 | KMT2B | n.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=) | |
19 | g.35733038T>A | CA405428825 | KMT2B | n.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) | |
19 | g.35733038T>C | CA507309140 | KMT2B | n.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=) | |
19 | g.35733038T>G | CA405428827 | KMT2B | n.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) | |
19 | g.35733039G>A | CA9385701 | KMT2B | n.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 |
19 | g.35733039G>C | CA405428833 | KMT2B | n.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) | |
19 | g.35733039G= | CA2333794622 | KMT2B | n.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=) | |
19 | g.35733039G>T | CA405428836 | KMT2B | n.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 |
19 | g.35733040C>A | CA405428845 | KMT2B | n.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) | |
19 | g.35733040C>G | CA405428843 | KMT2B | n.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) | |
19 | g.35733040C>T | CA405428840 | KMT2B | n.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 |
19 | g.35733041C>A | CA507308290 | KMT2B | n.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 |
19 | g.35733041C= | CA2333794623 | KMT2B | n.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=) | |
19 | g.35733041C>G | CA507308292 | KMT2B | n.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 |
19 | g.35733041C>T | CA9385702 | KMT2B | n.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 |
19 | g.35733042T>A | CA405428850 | KMT2B | n.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) | |
19 | g.35733042T>C | CA405428853 | KMT2B | n.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) | |
19 | g.35733042T>G | CA405428856 | KMT2B | n.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) | |
19 | g.35733043G>A | CA405428860 | KMT2B | n.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) | |
19 | g.35733043G>C | CA405428862 | KMT2B | n.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) | |
19 | g.35733043G>T | CA405428865 | KMT2B | n.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) | |
19 | g.35733044G>A | CA405428870 | KMT2B | n.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 |
19 | g.35733044G>C | CA405428873 | KMT2B | n.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) | |
19 | g.35733044G>T | CA405428875 | KMT2B | n.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) | |
19 | g.35733045C>A | CA405428879 | KMT2B | n.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 |
19 | g.35733045C>G | CA405428881 | KMT2B | n.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 |
19 | g.35733045C>T | CA405428884 | KMT2B | n.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 |
19 | g.35733046T>A | CA405428891 | KMT2B | n.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) | |
19 | g.35733046T>C | CA405428894 | KMT2B | n.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) | |
19 | g.35733046T>G | CA405428888 | KMT2B | n.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) | |
19 | g.35733046_35733055delinsTCCCAGGGGC | CA2333794624 | KMT2B | n.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=) | |
19 | g.35733047C>A | CA507308308 | KMT2B | n.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 |
19 | g.35733047C= | CA2333794625 | KMT2B | n.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=) | |
19 | g.35733047C>G | CA507308310 | KMT2B | n.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 |
19 | g.35733047C>T | CA507308311 | KMT2B | n.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 |
19 | g.35733055_35733063del | CA9385703 | KMT2B | n.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 |
19 | g.35733048C>A | CA405428900 | KMT2B | n.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 |
19 | g.35733048C= | CA2333794626 | KMT2B | n.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=) | |
19 | g.35733048C>G | CA405428901 | KMT2B | n.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) | |
19 | g.35733048C>T | CA405428903 | KMT2B | n.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 |
19 | g.35733049C>A | CA405428906 | KMT2B | n.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) | |
19 | g.35733049C>G | CA405428908 | KMT2B | n.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 |
19 | g.35733049C>T | CA405428911 | KMT2B | n.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) | |
19 | g.35733050A= | CA2333794627 | KMT2B | n.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=) | |
19 | g.35733050A>C | CA307796883 | KMT2B | n.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 |
19 | g.35733050A>G | CA507308326 | KMT2B | n.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 |
19 | g.35733050A>T | CA507308323 | KMT2B | n.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=) | |
19 | g.35733051G>A | CA405428915 | KMT2B | n.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 |
19 | g.35733051G>C | CA405428918 | KMT2B | n.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 |
19 | g.35733051G= | CA2333794628 | KMT2B | n.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=) | |
19 | g.35733051G>T | CA405428920 | KMT2B | n.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) |