Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35732581G>ACA405425320KMT2Bn.338G>A
c.5966G>A (p.Gly1989Glu)
c.3573G>A (n.3573G>A)
c.1250G>A (p.Gly417Glu)
n.1185G>A
c.1253G>A (p.Gly418Glu)
c.5574G>A
c.6032G>A (p.Gly2011Glu)
c.704+252G>A (n.704+252G>A)
c.3354G>A
c.5756G>A (p.Gly1919Glu)
c.5468G>A (p.Gly1823Glu)
c.2996G>A (p.Gly999Glu)
19g.35732581G>CCA405425321KMT2Bn.338G>C
c.5966G>C (p.Gly1989Ala)
c.3573G>C (n.3573G>C)
c.1250G>C (p.Gly417Ala)
n.1185G>C
c.1253G>C (p.Gly418Ala)
c.5574G>C
c.6032G>C (p.Gly2011Ala)
c.704+252G>C (n.704+252G>C)
c.3354G>C
c.5756G>C (p.Gly1919Ala)
c.5468G>C (p.Gly1823Ala)
c.2996G>C (p.Gly999Ala)
19g.35732581G>TCA405425323KMT2Bn.338G>T
c.5966G>T (p.Gly1989Val)
c.3573G>T (n.3573G>T)
c.1250G>T (p.Gly417Val)
n.1185G>T
c.1253G>T (p.Gly418Val)
c.5574G>T
c.6032G>T (p.Gly2011Val)
c.704+252G>T (n.704+252G>T)
c.3354G>T
c.5756G>T (p.Gly1919Val)
c.5468G>T (p.Gly1823Val)
c.2996G>T (p.Gly999Val)
19g.35732582G>ACA507308248KMT2Bn.339G>A
c.5967G>A (p.Gly1989=)
c.3574G>A (n.3574G>A)
c.1251G>A (p.Gly417=)
n.1186G>A
c.1254G>A (p.Gly418=)
c.5575G>A
c.6033G>A (p.Gly2011=)
c.704+253G>A (n.704+253G>A)
c.3355G>A
c.5757G>A (p.Gly1919=)
c.5469G>A (p.Gly1823=)
c.2997G>A (p.Gly999=)
dbSNP gnomAD v3 gnomAD v4
19g.35732582G>CCA507308252KMT2Bn.339G>C
c.5967G>C (p.Gly1989=)
c.3574G>C (n.3574G>C)
c.1251G>C (p.Gly417=)
n.1186G>C
c.1254G>C (p.Gly418=)
c.5575G>C
c.6033G>C (p.Gly2011=)
c.704+253G>C (n.704+253G>C)
c.3355G>C
c.5757G>C (p.Gly1919=)
c.5469G>C (p.Gly1823=)
c.2997G>C (p.Gly999=)
19g.35732582G=CA2333794382KMT2Bn.339G=
c.5967G= (p.Gly1989=)
c.3574G= (n.3574G=)
c.1251G= (p.Gly417=)
n.1186G=
c.1254G= (p.Gly418=)
c.5575G=
c.6033G= (p.Gly2011=)
c.704+253G= (n.704+253G=)
c.3355G=
c.5757G= (p.Gly1919=)
c.5469G= (p.Gly1823=)
c.2997G= (p.Gly999=)
19g.35732582G>TCA9385589KMT2Bn.339G>T
c.5967G>T (p.Gly1989=)
c.3574G>T (n.3574G>T)
c.1251G>T (p.Gly417=)
n.1186G>T
c.1254G>T (p.Gly418=)
c.5575G>T
c.6033G>T (p.Gly2011=)
c.704+253G>T (n.704+253G>T)
c.3355G>T
c.5757G>T (p.Gly1919=)
c.5469G>T (p.Gly1823=)
c.2997G>T (p.Gly999=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732583G>ACA9385590KMT2Bn.340G>A
c.5968G>A (p.Ala1990Thr)
c.3575G>A (n.3575G>A)
c.1252G>A (p.Ala418Thr)
n.1187G>A
c.1255G>A (p.Ala419Thr)
c.5576G>A
c.6034G>A (p.Ala2012Thr)
c.704+254G>A (n.704+254G>A)
c.3356G>A
c.5758G>A (p.Ala1920Thr)
c.5470G>A (p.Ala1824Thr)
c.2998G>A (p.Ala1000Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35732583G>CCA405425327KMT2Bn.340G>C
c.5968G>C (p.Ala1990Pro)
c.3575G>C (n.3575G>C)
c.1252G>C (p.Ala418Pro)
n.1187G>C
c.1255G>C (p.Ala419Pro)
c.5576G>C
c.6034G>C (p.Ala2012Pro)
c.704+254G>C (n.704+254G>C)
c.3356G>C
c.5758G>C (p.Ala1920Pro)
c.5470G>C (p.Ala1824Pro)
c.2998G>C (p.Ala1000Pro)
19g.35732583G=CA2333794383KMT2Bn.340G=
c.5968G= (p.Ala1990=)
c.3575G= (n.3575G=)
c.1252G= (p.Ala418=)
n.1187G=
c.1255G= (p.Ala419=)
c.5576G=
c.6034G= (p.Ala2012=)
c.704+254G= (n.704+254G=)
c.3356G=
c.5758G= (p.Ala1920=)
c.5470G= (p.Ala1824=)
c.2998G= (p.Ala1000=)
19g.35732583G>TCA405425328KMT2Bn.340G>T
c.5968G>T (p.Ala1990Ser)
c.3575G>T (n.3575G>T)
c.1252G>T (p.Ala418Ser)
n.1187G>T
c.1255G>T (p.Ala419Ser)
c.5576G>T
c.6034G>T (p.Ala2012Ser)
c.704+254G>T (n.704+254G>T)
c.3356G>T
c.5758G>T (p.Ala1920Ser)
c.5470G>T (p.Ala1824Ser)
c.2998G>T (p.Ala1000Ser)
19g.35732584C>ACA405425330KMT2Bn.341C>A
c.5969C>A (p.Ala1990Asp)
c.3576C>A (n.3576C>A)
c.1253C>A (p.Ala418Asp)
n.1188C>A
c.1256C>A (p.Ala419Asp)
c.5577C>A
c.6035C>A (p.Ala2012Asp)
c.704+255C>A (n.704+255C>A)
c.3357C>A
c.5759C>A (p.Ala1920Asp)
c.5471C>A (p.Ala1824Asp)
c.2999C>A (p.Ala1000Asp)
dbSNP
19g.35732584C=CA2333794384KMT2Bn.341C=
c.5969C= (p.Ala1990=)
c.3576C= (n.3576C=)
c.1253C= (p.Ala418=)
n.1188C=
c.1256C= (p.Ala419=)
c.5577C=
c.6035C= (p.Ala2012=)
c.704+255C= (n.704+255C=)
c.3357C=
c.5759C= (p.Ala1920=)
c.5471C= (p.Ala1824=)
c.2999C= (p.Ala1000=)
19g.35732584C>GCA405425332KMT2Bn.341C>G
c.5969C>G (p.Ala1990Gly)
c.3576C>G (n.3576C>G)
c.1253C>G (p.Ala418Gly)
n.1188C>G
c.1256C>G (p.Ala419Gly)
c.5577C>G
c.6035C>G (p.Ala2012Gly)
c.704+255C>G (n.704+255C>G)
c.3357C>G
c.5759C>G (p.Ala1920Gly)
c.5471C>G (p.Ala1824Gly)
c.2999C>G (p.Ala1000Gly)
19g.35732584C>TCA405425333KMT2Bn.341C>T
c.5969C>T (p.Ala1990Val)
c.3576C>T (n.3576C>T)
c.1253C>T (p.Ala418Val)
n.1188C>T
c.1256C>T (p.Ala419Val)
c.5577C>T
c.6035C>T (p.Ala2012Val)
c.704+255C>T (n.704+255C>T)
c.3357C>T
c.5759C>T (p.Ala1920Val)
c.5471C>T (p.Ala1824Val)
c.2999C>T (p.Ala1000Val)
dbSNP gnomAD v2 gnomAD v4
19g.35732585C>ACA507308260KMT2Bn.342C>A
c.5970C>A (p.Ala1990=)
c.3577C>A (n.3577C>A)
c.1254C>A (p.Ala418=)
n.1189C>A
c.1257C>A (p.Ala419=)
c.5578C>A
c.6036C>A (p.Ala2012=)
c.704+256C>A (n.704+256C>A)
c.3358C>A
c.5760C>A (p.Ala1920=)
c.5472C>A (p.Ala1824=)
c.3000C>A (p.Ala1000=)
19g.35732585C>GCA507308264KMT2Bn.342C>G
c.5970C>G (p.Ala1990=)
c.3577C>G (n.3577C>G)
c.1254C>G (p.Ala418=)
n.1189C>G
c.1257C>G (p.Ala419=)
c.5578C>G
c.6036C>G (p.Ala2012=)
c.704+256C>G (n.704+256C>G)
c.3358C>G
c.5760C>G (p.Ala1920=)
c.5472C>G (p.Ala1824=)
c.3000C>G (p.Ala1000=)
19g.35732585C>TCA507308263KMT2Bn.342C>T
c.5970C>T (p.Ala1990=)
c.3577C>T (n.3577C>T)
c.1254C>T (p.Ala418=)
n.1189C>T
c.1257C>T (p.Ala419=)
c.5578C>T
c.6036C>T (p.Ala2012=)
c.704+256C>T (n.704+256C>T)
c.3358C>T
c.5760C>T (p.Ala1920=)
c.5472C>T (p.Ala1824=)
c.3000C>T (p.Ala1000=)
19g.35732586A=CA2333794385KMT2Bn.343A=
c.5971A= (p.Met1991=)
c.3578A= (n.3578A=)
c.1255A= (p.Met419=)
n.1190A=
c.1258A= (p.Met420=)
c.5579A=
c.6037A= (p.Met2013=)
c.704+257A= (n.704+257A=)
c.3359A=
c.5761A= (p.Met1921=)
c.5473A= (p.Met1825=)
c.3001A= (p.Met1001=)
19g.35732586A>CCA405425334KMT2Bn.343A>C
c.5971A>C (p.Met1991Leu)
c.3578A>C (n.3578A>C)
c.1255A>C (p.Met419Leu)
n.1190A>C
c.1258A>C (p.Met420Leu)
c.5579A>C
c.6037A>C (p.Met2013Leu)
c.704+257A>C (n.704+257A>C)
c.3359A>C
c.5761A>C (p.Met1921Leu)
c.5473A>C (p.Met1825Leu)
c.3001A>C (p.Met1001Leu)
19g.35732586A>GCA9385591KMT2Bn.343A>G
c.5971A>G (p.Met1991Val)
c.3578A>G (n.3578A>G)
c.1255A>G (p.Met419Val)
n.1190A>G
c.1258A>G (p.Met420Val)
c.5579A>G
c.6037A>G (p.Met2013Val)
c.704+257A>G (n.704+257A>G)
c.3359A>G
c.5761A>G (p.Met1921Val)
c.5473A>G (p.Met1825Val)
c.3001A>G (p.Met1001Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732586A>TCA405425335KMT2Bn.343A>T
c.5971A>T (p.Met1991Leu)
c.3578A>T (n.3578A>T)
c.1255A>T (p.Met419Leu)
n.1190A>T
c.1258A>T (p.Met420Leu)
c.5579A>T
c.6037A>T (p.Met2013Leu)
c.704+257A>T (n.704+257A>T)
c.3359A>T
c.5761A>T (p.Met1921Leu)
c.5473A>T (p.Met1825Leu)
c.3001A>T (p.Met1001Leu)
19g.35732587T>ACA405425338KMT2Bn.344T>A
c.5972T>A (p.Met1991Lys)
c.3579T>A (n.3579T>A)
c.1256T>A (p.Met419Lys)
n.1191T>A
c.1259T>A (p.Met420Lys)
c.5580T>A
c.6038T>A (p.Met2013Lys)
c.704+258T>A (n.704+258T>A)
c.3360T>A
c.5762T>A (p.Met1921Lys)
c.5474T>A (p.Met1825Lys)
c.3002T>A (p.Met1001Lys)
19g.35732587T>CCA405425339KMT2Bn.344T>C
c.5972T>C (p.Met1991Thr)
c.3579T>C (n.3579T>C)
c.1256T>C (p.Met419Thr)
n.1191T>C
c.1259T>C (p.Met420Thr)
c.5580T>C
c.6038T>C (p.Met2013Thr)
c.704+258T>C (n.704+258T>C)
c.3360T>C
c.5762T>C (p.Met1921Thr)
c.5474T>C (p.Met1825Thr)
c.3002T>C (p.Met1001Thr)
19g.35732587T>GCA405425341KMT2Bn.344T>G
c.5972T>G (p.Met1991Arg)
c.3579T>G (n.3579T>G)
c.1256T>G (p.Met419Arg)
n.1191T>G
c.1259T>G (p.Met420Arg)
c.5580T>G
c.6038T>G (p.Met2013Arg)
c.704+258T>G (n.704+258T>G)
c.3360T>G
c.5762T>G (p.Met1921Arg)
c.5474T>G (p.Met1825Arg)
c.3002T>G (p.Met1001Arg)
19g.35732588G>ACA405425344KMT2Bn.345G>A
c.5973G>A (p.Met1991Ile)
c.3580G>A (n.3580G>A)
c.1257G>A (p.Met419Ile)
n.1192G>A
c.1260G>A (p.Met420Ile)
c.5581G>A
c.6039G>A (p.Met2013Ile)
c.704+259G>A (n.704+259G>A)
c.3361G>A
c.5763G>A (p.Met1921Ile)
c.5475G>A (p.Met1825Ile)
c.3003G>A (p.Met1001Ile)
19g.35732588G>CCA405425346KMT2Bn.345G>C
c.5973G>C (p.Met1991Ile)
c.3580G>C (n.3580G>C)
c.1257G>C (p.Met419Ile)
n.1192G>C
c.1260G>C (p.Met420Ile)
c.5581G>C
c.6039G>C (p.Met2013Ile)
c.704+259G>C (n.704+259G>C)
c.3361G>C
c.5763G>C (p.Met1921Ile)
c.5475G>C (p.Met1825Ile)
c.3003G>C (p.Met1001Ile)
19g.35732588G>TCA405425350KMT2Bn.345G>T
c.5973G>T (p.Met1991Ile)
c.3580G>T (n.3580G>T)
c.1257G>T (p.Met419Ile)
n.1192G>T
c.1260G>T (p.Met420Ile)
c.5581G>T
c.6039G>T (p.Met2013Ile)
c.704+259G>T (n.704+259G>T)
c.3361G>T
c.5763G>T (p.Met1921Ile)
c.5475G>T (p.Met1825Ile)
c.3003G>T (p.Met1001Ile)
19g.35732589G>ACA405425352KMT2Bn.346G>A
c.5974G>A (p.Gly1992Arg)
c.3581G>A (n.3581G>A)
c.1258G>A (p.Gly420Arg)
n.1193G>A
c.1261G>A (p.Gly421Arg)
c.5582G>A
c.6040G>A (p.Gly2014Arg)
c.704+260G>A (n.704+260G>A)
c.3362G>A
c.5764G>A (p.Gly1922Arg)
c.5476G>A (p.Gly1826Arg)
c.3004G>A (p.Gly1002Arg)
19g.35732589G>CCA405425359KMT2Bn.346G>C
c.5974G>C (p.Gly1992Arg)
c.3581G>C (n.3581G>C)
c.1258G>C (p.Gly420Arg)
n.1193G>C
c.1261G>C (p.Gly421Arg)
c.5582G>C
c.6040G>C (p.Gly2014Arg)
c.704+260G>C (n.704+260G>C)
c.3362G>C
c.5764G>C (p.Gly1922Arg)
c.5476G>C (p.Gly1826Arg)
c.3004G>C (p.Gly1002Arg)
19g.35732589G>TCA405425357KMT2Bn.346G>T
c.5974G>T (p.Gly1992Trp)
c.3581G>T (n.3581G>T)
c.1258G>T (p.Gly420Trp)
n.1193G>T
c.1261G>T (p.Gly421Trp)
c.5582G>T
c.6040G>T (p.Gly2014Trp)
c.704+260G>T (n.704+260G>T)
c.3362G>T
c.5764G>T (p.Gly1922Trp)
c.5476G>T (p.Gly1826Trp)
c.3004G>T (p.Gly1002Trp)
19g.35732590G>ACA9385592KMT2Bn.347G>A
c.5975G>A (p.Gly1992Glu)
c.3582G>A (n.3582G>A)
c.1259G>A (p.Gly420Glu)
n.1194G>A
c.1262G>A (p.Gly421Glu)
c.5583G>A
c.6041G>A (p.Gly2014Glu)
c.704+261G>A (n.704+261G>A)
c.3363G>A
c.5765G>A (p.Gly1922Glu)
c.5477G>A (p.Gly1826Glu)
c.3005G>A (p.Gly1002Glu)
dbSNP ExAC gnomAD v2
19g.35732590G>CCA405425367KMT2Bn.347G>C
c.5975G>C (p.Gly1992Ala)
c.3582G>C (n.3582G>C)
c.1259G>C (p.Gly420Ala)
n.1194G>C
c.1262G>C (p.Gly421Ala)
c.5583G>C
c.6041G>C (p.Gly2014Ala)
c.704+261G>C (n.704+261G>C)
c.3363G>C
c.5765G>C (p.Gly1922Ala)
c.5477G>C (p.Gly1826Ala)
c.3005G>C (p.Gly1002Ala)
19g.35732590G=CA2333794386KMT2Bn.347G=
c.5975G= (p.Gly1992=)
c.3582G= (n.3582G=)
c.1259G= (p.Gly420=)
n.1194G=
c.1262G= (p.Gly421=)
c.5583G=
c.6041G= (p.Gly2014=)
c.704+261G= (n.704+261G=)
c.3363G=
c.5765G= (p.Gly1922=)
c.5477G= (p.Gly1826=)
c.3005G= (p.Gly1002=)
19g.35732590G>TCA405425369KMT2Bn.347G>T
c.5975G>T (p.Gly1992Val)
c.3582G>T (n.3582G>T)
c.1259G>T (p.Gly420Val)
n.1194G>T
c.1262G>T (p.Gly421Val)
c.5583G>T
c.6041G>T (p.Gly2014Val)
c.704+261G>T (n.704+261G>T)
c.3363G>T
c.5765G>T (p.Gly1922Val)
c.5477G>T (p.Gly1826Val)
c.3005G>T (p.Gly1002Val)
19g.35732591G>ACA507308273KMT2Bn.348G>A
c.5976G>A (p.Gly1992=)
c.3583G>A (n.3583G>A)
c.1260G>A (p.Gly420=)
n.1195G>A
c.1263G>A (p.Gly421=)
c.5584G>A
c.6042G>A (p.Gly2014=)
c.704+262G>A (n.704+262G>A)
c.3364G>A
c.5766G>A (p.Gly1922=)
c.5478G>A (p.Gly1826=)
c.3006G>A (p.Gly1002=)
19g.35732591G>CCA507308275KMT2Bn.348G>C
c.5976G>C (p.Gly1992=)
c.3583G>C (n.3583G>C)
c.1260G>C (p.Gly420=)
n.1195G>C
c.1263G>C (p.Gly421=)
c.5584G>C
c.6042G>C (p.Gly2014=)
c.704+262G>C (n.704+262G>C)
c.3364G>C
c.5766G>C (p.Gly1922=)
c.5478G>C (p.Gly1826=)
c.3006G>C (p.Gly1002=)
19g.35732591G=CA2333794387KMT2Bn.348G=
c.5976G= (p.Gly1992=)
c.3583G= (n.3583G=)
c.1260G= (p.Gly420=)
n.1195G=
c.1263G= (p.Gly421=)
c.5584G=
c.6042G= (p.Gly2014=)
c.704+262G= (n.704+262G=)
c.3364G=
c.5766G= (p.Gly1922=)
c.5478G= (p.Gly1826=)
c.3006G= (p.Gly1002=)
19g.35732591G>TCA9385593KMT2Bn.348G>T
c.5976G>T (p.Gly1992=)
c.3583G>T (n.3583G>T)
c.1260G>T (p.Gly420=)
n.1195G>T
c.1263G>T (p.Gly421=)
c.5584G>T
c.6042G>T (p.Gly2014=)
c.704+262G>T (n.704+262G>T)
c.3364G>T
c.5766G>T (p.Gly1922=)
c.5478G>T (p.Gly1826=)
c.3006G>T (p.Gly1002=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35732592A>CCA405425376KMT2Bn.349A>C
c.5977A>C (p.Ser1993Arg)
c.3584A>C (n.3584A>C)
c.1261A>C (p.Ser421Arg)
n.1196A>C
c.1264A>C (p.Ser422Arg)
c.5585A>C
c.6043A>C (p.Ser2015Arg)
c.704+263A>C (n.704+263A>C)
c.3365A>C
c.5767A>C (p.Ser1923Arg)
c.5479A>C (p.Ser1827Arg)
c.3007A>C (p.Ser1003Arg)
19g.35732592A>GCA405425378KMT2Bn.349A>G
c.5977A>G (p.Ser1993Gly)
c.3584A>G (n.3584A>G)
c.1261A>G (p.Ser421Gly)
n.1196A>G
c.1264A>G (p.Ser422Gly)
c.5585A>G
c.6043A>G (p.Ser2015Gly)
c.704+263A>G (n.704+263A>G)
c.3365A>G
c.5767A>G (p.Ser1923Gly)
c.5479A>G (p.Ser1827Gly)
c.3007A>G (p.Ser1003Gly)
19g.35732592A>TCA405425380KMT2Bn.349A>T
c.5977A>T (p.Ser1993Cys)
c.3584A>T (n.3584A>T)
c.1261A>T (p.Ser421Cys)
n.1196A>T
c.1264A>T (p.Ser422Cys)
c.5585A>T
c.6043A>T (p.Ser2015Cys)
c.704+263A>T (n.704+263A>T)
c.3365A>T
c.5767A>T (p.Ser1923Cys)
c.5479A>T (p.Ser1827Cys)
c.3007A>T (p.Ser1003Cys)
19g.35732593G>ACA405425383KMT2Bn.350G>A
c.5978G>A (p.Ser1993Asn)
c.3585G>A (n.3585G>A)
c.1262G>A (p.Ser421Asn)
n.1197G>A
c.1265G>A (p.Ser422Asn)
c.5586G>A
c.6044G>A (p.Ser2015Asn)
c.704+264G>A (n.704+264G>A)
c.3366G>A
c.5768G>A (p.Ser1923Asn)
c.5480G>A (p.Ser1827Asn)
c.3008G>A (p.Ser1003Asn)
19g.35732593G>CCA405425385KMT2Bn.350G>C
c.5978G>C (p.Ser1993Thr)
c.3585G>C (n.3585G>C)
c.1262G>C (p.Ser421Thr)
n.1197G>C
c.1265G>C (p.Ser422Thr)
c.5586G>C
c.6044G>C (p.Ser2015Thr)
c.704+264G>C (n.704+264G>C)
c.3366G>C
c.5768G>C (p.Ser1923Thr)
c.5480G>C (p.Ser1827Thr)
c.3008G>C (p.Ser1003Thr)
19g.35732593G>TCA405425387KMT2Bn.350G>T
c.5978G>T (p.Ser1993Ile)
c.3585G>T (n.3585G>T)
c.1262G>T (p.Ser421Ile)
n.1197G>T
c.1265G>T (p.Ser422Ile)
c.5586G>T
c.6044G>T (p.Ser2015Ile)
c.704+264G>T (n.704+264G>T)
c.3366G>T
c.5768G>T (p.Ser1923Ile)
c.5480G>T (p.Ser1827Ile)
c.3008G>T (p.Ser1003Ile)
19g.35732594C>ACA405425392KMT2Bn.351C>A
c.5979C>A (p.Ser1993Arg)
c.3586C>A (n.3586C>A)
c.1263C>A (p.Ser421Arg)
n.1198C>A
c.1266C>A (p.Ser422Arg)
c.5587C>A
c.6045C>A (p.Ser2015Arg)
c.704+265C>A (n.704+265C>A)
c.3367C>A
c.5769C>A (p.Ser1923Arg)
c.5481C>A (p.Ser1827Arg)
c.3009C>A (p.Ser1003Arg)
dbSNP gnomAD v3 gnomAD v4
19g.35732594C=CA2333794388KMT2Bn.351C=
c.5979C= (p.Ser1993=)
c.3586C= (n.3586C=)
c.1263C= (p.Ser421=)
n.1198C=
c.1266C= (p.Ser422=)
c.5587C=
c.6045C= (p.Ser2015=)
c.704+265C= (n.704+265C=)
c.3367C=
c.5769C= (p.Ser1923=)
c.5481C= (p.Ser1827=)
c.3009C= (p.Ser1003=)
19g.35732594C>GCA405425395KMT2Bn.351C>G
c.5979C>G (p.Ser1993Arg)
c.3586C>G (n.3586C>G)
c.1263C>G (p.Ser421Arg)
n.1198C>G
c.1266C>G (p.Ser422Arg)
c.5587C>G
c.6045C>G (p.Ser2015Arg)
c.704+265C>G (n.704+265C>G)
c.3367C>G
c.5769C>G (p.Ser1923Arg)
c.5481C>G (p.Ser1827Arg)
c.3009C>G (p.Ser1003Arg)
gnomAD v4
19g.35732594C>TCA507308285KMT2Bn.351C>T
c.5979C>T (p.Ser1993=)
c.3586C>T (n.3586C>T)
c.1263C>T (p.Ser421=)
n.1198C>T
c.1266C>T (p.Ser422=)
c.5587C>T
c.6045C>T (p.Ser2015=)
c.704+265C>T (n.704+265C>T)
c.3367C>T
c.5769C>T (p.Ser1923=)
c.5481C>T (p.Ser1827=)
c.3009C>T (p.Ser1003=)
19g.35732595A>CCA405425404KMT2Bn.352A>C
c.5980A>C (p.Ser1994Arg)
c.3587A>C (n.3587A>C)
c.1264A>C (p.Ser422Arg)
n.1199A>C
c.1267A>C (p.Ser423Arg)
c.5588A>C
c.6046A>C (p.Ser2016Arg)
c.704+266A>C (n.704+266A>C)
c.3368A>C
c.5770A>C (p.Ser1924Arg)
c.5482A>C (p.Ser1828Arg)
c.3010A>C (p.Ser1004Arg)
19g.35732595A>GCA405425400KMT2Bn.352A>G
c.5980A>G (p.Ser1994Gly)
c.3587A>G (n.3587A>G)
c.1264A>G (p.Ser422Gly)
n.1199A>G
c.1267A>G (p.Ser423Gly)
c.5588A>G
c.6046A>G (p.Ser2016Gly)
c.704+266A>G (n.704+266A>G)
c.3368A>G
c.5770A>G (p.Ser1924Gly)
c.5482A>G (p.Ser1828Gly)
c.3010A>G (p.Ser1004Gly)
19g.35732595A>TCA405425402KMT2Bn.352A>T
c.5980A>T (p.Ser1994Cys)
c.3587A>T (n.3587A>T)
c.1264A>T (p.Ser422Cys)
n.1199A>T
c.1267A>T (p.Ser423Cys)
c.5588A>T
c.6046A>T (p.Ser2016Cys)
c.704+266A>T (n.704+266A>T)
c.3368A>T
c.5770A>T (p.Ser1924Cys)
c.5482A>T (p.Ser1828Cys)
c.3010A>T (p.Ser1004Cys)
19g.35732596G>ACA405425409KMT2Bn.353G>A
c.5981G>A (p.Ser1994Asn)
c.3588G>A (n.3588G>A)
c.1265G>A (p.Ser422Asn)
n.1200G>A
c.1268G>A (p.Ser423Asn)
c.5589G>A
c.6047G>A (p.Ser2016Asn)
c.704+267G>A (n.704+267G>A)
c.3369G>A
c.5771G>A (p.Ser1924Asn)
c.5483G>A (p.Ser1828Asn)
c.3011G>A (p.Ser1004Asn)
19g.35732596G>CCA405425411KMT2Bn.353G>C
c.5981G>C (p.Ser1994Thr)
c.3588G>C (n.3588G>C)
c.1265G>C (p.Ser422Thr)
n.1200G>C
c.1268G>C (p.Ser423Thr)
c.5589G>C
c.6047G>C (p.Ser2016Thr)
c.704+267G>C (n.704+267G>C)
c.3369G>C
c.5771G>C (p.Ser1924Thr)
c.5483G>C (p.Ser1828Thr)
c.3011G>C (p.Ser1004Thr)
19g.35732596G>TCA405425414KMT2Bn.353G>T
c.5981G>T (p.Ser1994Ile)
c.3588G>T (n.3588G>T)
c.1265G>T (p.Ser422Ile)
n.1200G>T
c.1268G>T (p.Ser423Ile)
c.5589G>T
c.6047G>T (p.Ser2016Ile)
c.704+267G>T (n.704+267G>T)
c.3369G>T
c.5771G>T (p.Ser1924Ile)
c.5483G>T (p.Ser1828Ile)
c.3011G>T (p.Ser1004Ile)
19g.35732597C>ACA405425417KMT2Bn.354C>A
c.5982C>A (p.Ser1994Arg)
c.3589C>A (n.3589C>A)
c.1266C>A (p.Ser422Arg)
n.1201C>A
c.1269C>A (p.Ser423Arg)
c.5590C>A
c.6048C>A (p.Ser2016Arg)
c.704+268C>A (n.704+268C>A)
c.3370C>A
c.5772C>A (p.Ser1924Arg)
c.5484C>A (p.Ser1828Arg)
c.3012C>A (p.Ser1004Arg)
19g.35732597C>GCA405425418KMT2Bn.354C>G
c.5982C>G (p.Ser1994Arg)
c.3589C>G (n.3589C>G)
c.1266C>G (p.Ser422Arg)
n.1201C>G
c.1269C>G (p.Ser423Arg)
c.5590C>G
c.6048C>G (p.Ser2016Arg)
c.704+268C>G (n.704+268C>G)
c.3370C>G
c.5772C>G (p.Ser1924Arg)
c.5484C>G (p.Ser1828Arg)
c.3012C>G (p.Ser1004Arg)
19g.35732597C>TCA507308288KMT2Bn.354C>T
c.5982C>T (p.Ser1994=)
c.3589C>T (n.3589C>T)
c.1266C>T (p.Ser422=)
n.1201C>T
c.1269C>T (p.Ser423=)
c.5590C>T
c.6048C>T (p.Ser2016=)
c.704+268C>T (n.704+268C>T)
c.3370C>T
c.5772C>T (p.Ser1924=)
c.5484C>T (p.Ser1828=)
c.3012C>T (p.Ser1004=)
COSMIC
19g.35732598C>ACA405425421KMT2Bn.355C>A
c.5983C>A (p.His1995Asn)
c.3590C>A (n.3590C>A)
c.1267C>A (p.His423Asn)
n.1202C>A
c.1270C>A (p.His424Asn)
c.5591C>A
c.6049C>A (p.His2017Asn)
c.704+269C>A (n.704+269C>A)
c.3371C>A
c.5773C>A (p.His1925Asn)
c.5485C>A (p.His1829Asn)
c.3013C>A (p.His1005Asn)
19g.35732598C=CA2333794389KMT2Bn.355C=
c.5983C= (p.His1995=)
c.3590C= (n.3590C=)
c.1267C= (p.His423=)
n.1202C=
c.1270C= (p.His424=)
c.5591C=
c.6049C= (p.His2017=)
c.704+269C= (n.704+269C=)
c.3371C=
c.5773C= (p.His1925=)
c.5485C= (p.His1829=)
c.3013C= (p.His1005=)
19g.35732598C>GCA405425423KMT2Bn.355C>G
c.5983C>G (p.His1995Asp)
c.3590C>G (n.3590C>G)
c.1267C>G (p.His423Asp)
n.1202C>G
c.1270C>G (p.His424Asp)
c.5591C>G
c.6049C>G (p.His2017Asp)
c.704+269C>G (n.704+269C>G)
c.3371C>G
c.5773C>G (p.His1925Asp)
c.5485C>G (p.His1829Asp)
c.3013C>G (p.His1005Asp)
19g.35732598C>TCA405425425KMT2Bn.355C>T
c.5983C>T (p.His1995Tyr)
c.3590C>T (n.3590C>T)
c.1267C>T (p.His423Tyr)
n.1202C>T
c.1270C>T (p.His424Tyr)
c.5591C>T
c.6049C>T (p.His2017Tyr)
c.704+269C>T (n.704+269C>T)
c.3371C>T
c.5773C>T (p.His1925Tyr)
c.5485C>T (p.His1829Tyr)
c.3013C>T (p.His1005Tyr)
dbSNP gnomAD v3 gnomAD v4
19g.35732599A=CA2333794390KMT2Bn.356A=
c.5984A= (p.His1995=)
c.3591A= (n.3591A=)
c.1268A= (p.His423=)
n.1203A=
c.1271A= (p.His424=)
c.5592A=
c.6050A= (p.His2017=)
c.704+270A= (n.704+270A=)
c.3372A=
c.5774A= (p.His1925=)
c.5486A= (p.His1829=)
c.3014A= (p.His1005=)
19g.35732599A>CCA405425428KMT2Bn.356A>C
c.5984A>C (p.His1995Pro)
c.3591A>C (n.3591A>C)
c.1268A>C (p.His423Pro)
n.1203A>C
c.1271A>C (p.His424Pro)
c.5592A>C
c.6050A>C (p.His2017Pro)
c.704+270A>C (n.704+270A>C)
c.3372A>C
c.5774A>C (p.His1925Pro)
c.5486A>C (p.His1829Pro)
c.3014A>C (p.His1005Pro)
19g.35732599A>GCA405425429KMT2Bn.356A>G
c.5984A>G (p.His1995Arg)
c.3591A>G (n.3591A>G)
c.1268A>G (p.His423Arg)
n.1203A>G
c.1271A>G (p.His424Arg)
c.5592A>G
c.6050A>G (p.His2017Arg)
c.704+270A>G (n.704+270A>G)
c.3372A>G
c.5774A>G (p.His1925Arg)
c.5486A>G (p.His1829Arg)
c.3014A>G (p.His1005Arg)
19g.35732599A>TCA405425431KMT2Bn.356A>T
c.5984A>T (p.His1995Leu)
c.3591A>T (n.3591A>T)
c.1268A>T (p.His423Leu)
n.1203A>T
c.1271A>T (p.His424Leu)
c.5592A>T
c.6050A>T (p.His2017Leu)
c.704+270A>T (n.704+270A>T)
c.3372A>T
c.5774A>T (p.His1925Leu)
c.5486A>T (p.His1829Leu)
c.3014A>T (p.His1005Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35732600C>ACA405425438KMT2Bn.357C>A
c.5985C>A (p.His1995Gln)
c.3592C>A (n.3592C>A)
c.1269C>A (p.His423Gln)
n.1204C>A
c.1272C>A (p.His424Gln)
c.5593C>A
c.6051C>A (p.His2017Gln)
c.704+271C>A (n.704+271C>A)
c.3373C>A
c.5775C>A (p.His1925Gln)
c.5487C>A (p.His1829Gln)
c.3015C>A (p.His1005Gln)
19g.35732600C=CA2333794391KMT2Bn.357C=
c.5985C= (p.His1995=)
c.3592C= (n.3592C=)
c.1269C= (p.His423=)
n.1204C=
c.1272C= (p.His424=)
c.5593C=
c.6051C= (p.His2017=)
c.704+271C= (n.704+271C=)
c.3373C=
c.5775C= (p.His1925=)
c.5487C= (p.His1829=)
c.3015C= (p.His1005=)
19g.35732600C>GCA405425436KMT2Bn.357C>G
c.5985C>G (p.His1995Gln)
c.3592C>G (n.3592C>G)
c.1269C>G (p.His423Gln)
n.1204C>G
c.1272C>G (p.His424Gln)
c.5593C>G
c.6051C>G (p.His2017Gln)
c.704+271C>G (n.704+271C>G)
c.3373C>G
c.5775C>G (p.His1925Gln)
c.5487C>G (p.His1829Gln)
c.3015C>G (p.His1005Gln)
19g.35732600C>TCA9385594KMT2Bn.357C>T
c.5985C>T (p.His1995=)
c.3592C>T (n.3592C>T)
c.1269C>T (p.His423=)
n.1204C>T
c.1272C>T (p.His424=)
c.5593C>T
c.6051C>T (p.His2017=)
c.704+271C>T (n.704+271C>T)
c.3373C>T
c.5775C>T (p.His1925=)
c.5487C>T (p.His1829=)
c.3015C>T (p.His1005=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732601G>ACA405425441KMT2Bn.358G>A
c.5986G>A (p.Gly1996Arg)
c.3593G>A (n.3593G>A)
c.1270G>A (p.Gly424Arg)
n.1205G>A
c.1273G>A (p.Gly425Arg)
c.5594G>A
c.6052G>A (p.Gly2018Arg)
c.704+272G>A (n.704+272G>A)
c.3374G>A
c.5776G>A (p.Gly1926Arg)
c.5488G>A (p.Gly1830Arg)
c.3016G>A (p.Gly1006Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35732601G>CCA405425445KMT2Bn.358G>C
c.5986G>C (p.Gly1996Arg)
c.3593G>C (n.3593G>C)
c.1270G>C (p.Gly424Arg)
n.1205G>C
c.1273G>C (p.Gly425Arg)
c.5594G>C
c.6052G>C (p.Gly2018Arg)
c.704+272G>C (n.704+272G>C)
c.3374G>C
c.5776G>C (p.Gly1926Arg)
c.5488G>C (p.Gly1830Arg)
c.3016G>C (p.Gly1006Arg)
19g.35732601G=CA2333794392KMT2Bn.358G=
c.5986G= (p.Gly1996=)
c.3593G= (n.3593G=)
c.1270G= (p.Gly424=)
n.1205G=
c.1273G= (p.Gly425=)
c.5594G=
c.6052G= (p.Gly2018=)
c.704+272G= (n.704+272G=)
c.3374G=
c.5776G= (p.Gly1926=)
c.5488G= (p.Gly1830=)
c.3016G= (p.Gly1006=)
19g.35732601G>TCA405425443KMT2Bn.358G>T
c.5986G>T (p.Gly1996Trp)
c.3593G>T (n.3593G>T)
c.1270G>T (p.Gly424Trp)
n.1205G>T
c.1273G>T (p.Gly425Trp)
c.5594G>T
c.6052G>T (p.Gly2018Trp)
c.704+272G>T (n.704+272G>T)
c.3374G>T
c.5776G>T (p.Gly1926Trp)
c.5488G>T (p.Gly1830Trp)
c.3016G>T (p.Gly1006Trp)
gnomAD v4
19g.35732605dupCA2814254937KMT2Bn.362dup
c.5990dup (p.Asp2000GlyfsTer?)
c.3597dup (n.3597dup)
c.1274dup (p.Asp428GlyfsTer?)
n.1209dup
c.1277dup (p.Asp429GlyfsTer?)
c.5598dup
c.6056dup (p.Asp2022GlyfsTer?)
c.704+276dup (n.704+276dup)
c.3378dup
c.5780dup (p.Asp1930GlyfsTer?)
c.5492dup (p.Asp1834GlyfsTer?)
c.3020dup (p.Asp1010GlyfsTer?)
19g.35732605delCA2584575158KMT2Bn.362del
c.5990del (p.Gly1997AlafsTer21)
c.3597del (n.3597del)
c.1274del (p.Gly425AlafsTer21)
n.1209del
c.1277del (p.Gly426AlafsTer21)
c.5598del
c.6056del (p.Gly2019AlafsTer21)
c.704+276del (n.704+276del)
c.3378del
c.5780del (p.Gly1927AlafsTer21)
c.5492del (p.Gly1831AlafsTer21)
c.3020del (p.Gly1007AlafsTer21)
gnomAD v4
19g.35732602G>ACA405425448KMT2Bn.359G>A
c.5987G>A (p.Gly1996Glu)
c.3594G>A (n.3594G>A)
c.1271G>A (p.Gly424Glu)
n.1206G>A
c.1274G>A (p.Gly425Glu)
c.5595G>A
c.6053G>A (p.Gly2018Glu)
c.704+273G>A (n.704+273G>A)
c.3375G>A
c.5777G>A (p.Gly1926Glu)
c.5489G>A (p.Gly1830Glu)
c.3017G>A (p.Gly1006Glu)
dbSNP gnomAD v2
19g.35732602G>CCA405425450KMT2Bn.359G>C
c.5987G>C (p.Gly1996Ala)
c.3594G>C (n.3594G>C)
c.1271G>C (p.Gly424Ala)
n.1206G>C
c.1274G>C (p.Gly425Ala)
c.5595G>C
c.6053G>C (p.Gly2018Ala)
c.704+273G>C (n.704+273G>C)
c.3375G>C
c.5777G>C (p.Gly1926Ala)
c.5489G>C (p.Gly1830Ala)
c.3017G>C (p.Gly1006Ala)
19g.35732602G=CA2333794393KMT2Bn.359G=
c.5987G= (p.Gly1996=)
c.3594G= (n.3594G=)
c.1271G= (p.Gly424=)
n.1206G=
c.1274G= (p.Gly425=)
c.5595G=
c.6053G= (p.Gly2018=)
c.704+273G= (n.704+273G=)
c.3375G=
c.5777G= (p.Gly1926=)
c.5489G= (p.Gly1830=)
c.3017G= (p.Gly1006=)
19g.35732602G>TCA405425452KMT2Bn.359G>T
c.5987G>T (p.Gly1996Val)
c.3594G>T (n.3594G>T)
c.1271G>T (p.Gly424Val)
n.1206G>T
c.1274G>T (p.Gly425Val)
c.5595G>T
c.6053G>T (p.Gly2018Val)
c.704+273G>T (n.704+273G>T)
c.3375G>T
c.5777G>T (p.Gly1926Val)
c.5489G>T (p.Gly1830Val)
c.3017G>T (p.Gly1006Val)
19g.35732603G>ACA507308298KMT2Bn.360G>A
c.5988G>A (p.Gly1996=)
c.3595G>A (n.3595G>A)
c.1272G>A (p.Gly424=)
n.1207G>A
c.1275G>A (p.Gly425=)
c.5596G>A
c.6054G>A (p.Gly2018=)
c.704+274G>A (n.704+274G>A)
c.3376G>A
c.5778G>A (p.Gly1926=)
c.5490G>A (p.Gly1830=)
c.3018G>A (p.Gly1006=)
19g.35732603G>CCA507308300KMT2Bn.360G>C
c.5988G>C (p.Gly1996=)
c.3595G>C (n.3595G>C)
c.1272G>C (p.Gly424=)
n.1207G>C
c.1275G>C (p.Gly425=)
c.5596G>C
c.6054G>C (p.Gly2018=)
c.704+274G>C (n.704+274G>C)
c.3376G>C
c.5778G>C (p.Gly1926=)
c.5490G>C (p.Gly1830=)
c.3018G>C (p.Gly1006=)
19g.35732603G>TCA507308301KMT2Bn.360G>T
c.5988G>T (p.Gly1996=)
c.3595G>T (n.3595G>T)
c.1272G>T (p.Gly424=)
n.1207G>T
c.1275G>T (p.Gly425=)
c.5596G>T
c.6054G>T (p.Gly2018=)
c.704+274G>T (n.704+274G>T)
c.3376G>T
c.5778G>T (p.Gly1926=)
c.5490G>T (p.Gly1830=)
c.3018G>T (p.Gly1006=)
19g.35732604G>ACA405425455KMT2Bn.361G>A
c.5989G>A (p.Gly1997Ser)
c.3596G>A (n.3596G>A)
c.1273G>A (p.Gly425Ser)
n.1208G>A
c.1276G>A (p.Gly426Ser)
c.5597G>A
c.6055G>A (p.Gly2019Ser)
c.704+275G>A (n.704+275G>A)
c.3377G>A
c.5779G>A (p.Gly1927Ser)
c.5491G>A (p.Gly1831Ser)
c.3019G>A (p.Gly1007Ser)
dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.35732604G>CCA405425457KMT2Bn.361G>C
c.5989G>C (p.Gly1997Arg)
c.3596G>C (n.3596G>C)
c.1273G>C (p.Gly425Arg)
n.1208G>C
c.1276G>C (p.Gly426Arg)
c.5597G>C
c.6055G>C (p.Gly2019Arg)
c.704+275G>C (n.704+275G>C)
c.3377G>C
c.5779G>C (p.Gly1927Arg)
c.5491G>C (p.Gly1831Arg)
c.3019G>C (p.Gly1007Arg)
19g.35732604G=CA2333794394KMT2Bn.361G=
c.5989G= (p.Gly1997=)
c.3596G= (n.3596G=)
c.1273G= (p.Gly425=)
n.1208G=
c.1276G= (p.Gly426=)
c.5597G=
c.6055G= (p.Gly2019=)
c.704+275G= (n.704+275G=)
c.3377G=
c.5779G= (p.Gly1927=)
c.5491G= (p.Gly1831=)
c.3019G= (p.Gly1007=)
19g.35732604G>TCA405425458KMT2Bn.361G>T
c.5989G>T (p.Gly1997Cys)
c.3596G>T (n.3596G>T)
c.1273G>T (p.Gly425Cys)
n.1208G>T
c.1276G>T (p.Gly426Cys)
c.5597G>T
c.6055G>T (p.Gly2019Cys)
c.704+275G>T (n.704+275G>T)
c.3377G>T
c.5779G>T (p.Gly1927Cys)
c.5491G>T (p.Gly1831Cys)
c.3019G>T (p.Gly1007Cys)
19g.35732605G>ACA9385595KMT2Bn.362G>A
c.5990G>A (p.Gly1997Asp)
c.3597G>A (n.3597G>A)
c.1274G>A (p.Gly425Asp)
n.1209G>A
c.1277G>A (p.Gly426Asp)
c.5598G>A
c.6056G>A (p.Gly2019Asp)
c.704+276G>A (n.704+276G>A)
c.3378G>A
c.5780G>A (p.Gly1927Asp)
c.5492G>A (p.Gly1831Asp)
c.3020G>A (p.Gly1007Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732605G>CCA9385596KMT2Bn.362G>C
c.5990G>C (p.Gly1997Ala)
c.3597G>C (n.3597G>C)
c.1274G>C (p.Gly425Ala)
n.1209G>C
c.1277G>C (p.Gly426Ala)
c.5598G>C
c.6056G>C (p.Gly2019Ala)
c.704+276G>C (n.704+276G>C)
c.3378G>C
c.5780G>C (p.Gly1927Ala)
c.5492G>C (p.Gly1831Ala)
c.3020G>C (p.Gly1007Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732605G=CA2333794395KMT2Bn.362G=
c.5990G= (p.Gly1997=)
c.3597G= (n.3597G=)
c.1274G= (p.Gly425=)
n.1209G=
c.1277G= (p.Gly426=)
c.5598G=
c.6056G= (p.Gly2019=)
c.704+276G= (n.704+276G=)
c.3378G=
c.5780G= (p.Gly1927=)
c.5492G= (p.Gly1831=)
c.3020G= (p.Gly1007=)
19g.35732605G>TCA405425463KMT2Bn.362G>T
c.5990G>T (p.Gly1997Val)
c.3597G>T (n.3597G>T)
c.1274G>T (p.Gly425Val)
n.1209G>T
c.1277G>T (p.Gly426Val)
c.5598G>T
c.6056G>T (p.Gly2019Val)
c.704+276G>T (n.704+276G>T)
c.3378G>T
c.5780G>T (p.Gly1927Val)
c.5492G>T (p.Gly1831Val)
c.3020G>T (p.Gly1007Val)
19g.35732606C>ACA507308316KMT2Bn.363C>A
c.5991C>A (p.Gly1997=)
c.3598C>A (n.3598C>A)
c.1275C>A (p.Gly425=)
n.1210C>A
c.1278C>A (p.Gly426=)
c.5599C>A
c.6057C>A (p.Gly2019=)
c.704+277C>A (n.704+277C>A)
c.3379C>A
c.5781C>A (p.Gly1927=)
c.5493C>A (p.Gly1831=)
c.3021C>A (p.Gly1007=)
19g.35732606C=CA2333794396KMT2Bn.363C=
c.5991C= (p.Gly1997=)
c.3598C= (n.3598C=)
c.1275C= (p.Gly425=)
n.1210C=
c.1278C= (p.Gly426=)
c.5599C=
c.6057C= (p.Gly2019=)
c.704+277C= (n.704+277C=)
c.3379C=
c.5781C= (p.Gly1927=)
c.5493C= (p.Gly1831=)
c.3021C= (p.Gly1007=)
19g.35732606C>GCA507308317KMT2Bn.363C>G
c.5991C>G (p.Gly1997=)
c.3598C>G (n.3598C>G)
c.1275C>G (p.Gly425=)
n.1210C>G
c.1278C>G (p.Gly426=)
c.5599C>G
c.6057C>G (p.Gly2019=)
c.704+277C>G (n.704+277C>G)
c.3379C>G
c.5781C>G (p.Gly1927=)
c.5493C>G (p.Gly1831=)
c.3021C>G (p.Gly1007=)
dbSNP
19g.35732606C>TCA507308318KMT2Bn.363C>T
c.5991C>T (p.Gly1997=)
c.3598C>T (n.3598C>T)
c.1275C>T (p.Gly425=)
n.1210C>T
c.1278C>T (p.Gly426=)
c.5599C>T
c.6057C>T (p.Gly2019=)
c.704+277C>T (n.704+277C>T)
c.3379C>T
c.5781C>T (p.Gly1927=)
c.5493C>T (p.Gly1831=)
c.3021C>T (p.Gly1007=)
19g.35732607C>ACA405425466KMT2Bn.364C>A
c.5992C>A (p.Pro1998Thr)
c.3599C>A (n.3599C>A)
c.1276C>A (p.Pro426Thr)
n.1211C>A
c.1279C>A (p.Pro427Thr)
c.5600C>A
c.6058C>A (p.Pro2020Thr)
c.704+278C>A (n.704+278C>A)
c.3380C>A
c.5782C>A (p.Pro1928Thr)
c.5494C>A (p.Pro1832Thr)
c.3022C>A (p.Pro1008Thr)
19g.35732607C>GCA405425468KMT2Bn.364C>G
c.5992C>G (p.Pro1998Ala)
c.3599C>G (n.3599C>G)
c.1276C>G (p.Pro426Ala)
n.1211C>G
c.1279C>G (p.Pro427Ala)
c.5600C>G
c.6058C>G (p.Pro2020Ala)
c.704+278C>G (n.704+278C>G)
c.3380C>G
c.5782C>G (p.Pro1928Ala)
c.5494C>G (p.Pro1832Ala)
c.3022C>G (p.Pro1008Ala)
gnomAD v4
19g.35732607C>TCA405425470KMT2Bn.364C>T
c.5992C>T (p.Pro1998Ser)
c.3599C>T (n.3599C>T)
c.1276C>T (p.Pro426Ser)
n.1211C>T
c.1279C>T (p.Pro427Ser)
c.5600C>T
c.6058C>T (p.Pro2020Ser)
c.704+278C>T (n.704+278C>T)
c.3380C>T
c.5782C>T (p.Pro1928Ser)
c.5494C>T (p.Pro1832Ser)
c.3022C>T (p.Pro1008Ser)
19g.35732608C>ACA405425476KMT2Bn.365C>A
c.5993C>A (p.Pro1998Gln)
c.3600C>A (n.3600C>A)
c.1277C>A (p.Pro426Gln)
n.1212C>A
c.1280C>A (p.Pro427Gln)
c.5601C>A
c.6059C>A (p.Pro2020Gln)
c.704+279C>A (n.704+279C>A)
c.3381C>A
c.5783C>A (p.Pro1928Gln)
c.5495C>A (p.Pro1832Gln)
c.3023C>A (p.Pro1008Gln)
19g.35732608C=CA2333794397KMT2Bn.365C=
c.5993C= (p.Pro1998=)
c.3600C= (n.3600C=)
c.1277C= (p.Pro426=)
n.1212C=
c.1280C= (p.Pro427=)
c.5601C=
c.6059C= (p.Pro2020=)
c.704+279C= (n.704+279C=)
c.3381C=
c.5783C= (p.Pro1928=)
c.5495C= (p.Pro1832=)
c.3023C= (p.Pro1008=)
19g.35732608C>GCA405425473KMT2Bn.365C>G
c.5993C>G (p.Pro1998Arg)
c.3600C>G (n.3600C>G)
c.1277C>G (p.Pro426Arg)
n.1212C>G
c.1280C>G (p.Pro427Arg)
c.5601C>G
c.6059C>G (p.Pro2020Arg)
c.704+279C>G (n.704+279C>G)
c.3381C>G
c.5783C>G (p.Pro1928Arg)
c.5495C>G (p.Pro1832Arg)
c.3023C>G (p.Pro1008Arg)
19g.35732608C>TCA307796217KMT2Bn.365C>T
c.5993C>T (p.Pro1998Leu)
c.3600C>T (n.3600C>T)
c.1277C>T (p.Pro426Leu)
n.1212C>T
c.1280C>T (p.Pro427Leu)
c.5601C>T
c.6059C>T (p.Pro2020Leu)
c.704+279C>T (n.704+279C>T)
c.3381C>T
c.5783C>T (p.Pro1928Leu)
c.5495C>T (p.Pro1832Leu)
c.3023C>T (p.Pro1008Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35732609G>ACA9385597KMT2Bn.366G>A
c.5994G>A (p.Pro1998=)
c.3601G>A (n.3601G>A)
c.1278G>A (p.Pro426=)
n.1213G>A
c.1281G>A (p.Pro427=)
c.5602G>A
c.6060G>A (p.Pro2020=)
c.704+280G>A (n.704+280G>A)
c.3382G>A
c.5784G>A (p.Pro1928=)
c.5496G>A (p.Pro1832=)
c.3024G>A (p.Pro1008=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732609G>CCA507308327KMT2Bn.366G>C
c.5994G>C (p.Pro1998=)
c.3601G>C (n.3601G>C)
c.1278G>C (p.Pro426=)
n.1213G>C
c.1281G>C (p.Pro427=)
c.5602G>C
c.6060G>C (p.Pro2020=)
c.704+280G>C (n.704+280G>C)
c.3382G>C
c.5784G>C (p.Pro1928=)
c.5496G>C (p.Pro1832=)
c.3024G>C (p.Pro1008=)
dbSNP gnomAD v3 gnomAD v4
19g.35732609G=CA2333794398KMT2Bn.366G=
c.5994G= (p.Pro1998=)
c.3601G= (n.3601G=)
c.1278G= (p.Pro426=)
n.1213G=
c.1281G= (p.Pro427=)
c.5602G=
c.6060G= (p.Pro2020=)
c.704+280G= (n.704+280G=)
c.3382G=
c.5784G= (p.Pro1928=)
c.5496G= (p.Pro1832=)
c.3024G= (p.Pro1008=)
19g.35732609G>TCA507308329KMT2Bn.366G>T
c.5994G>T (p.Pro1998=)
c.3601G>T (n.3601G>T)
c.1278G>T (p.Pro426=)
n.1213G>T
c.1281G>T (p.Pro427=)
c.5602G>T
c.6060G>T (p.Pro2020=)
c.704+280G>T (n.704+280G>T)
c.3382G>T
c.5784G>T (p.Pro1928=)
c.5496G>T (p.Pro1832=)
c.3024G>T (p.Pro1008=)
19g.35732610G>ACA405425481KMT2Bn.367G>A
c.5995G>A (p.Gly1999Arg)
c.3602G>A (n.3602G>A)
c.1279G>A (p.Gly427Arg)
n.1214G>A
c.1282G>A (p.Gly428Arg)
c.5603G>A
c.6061G>A (p.Gly2021Arg)
c.704+281G>A (n.704+281G>A)
c.3383G>A
c.5785G>A (p.Gly1929Arg)
c.5497G>A (p.Gly1833Arg)
c.3025G>A (p.Gly1009Arg)
19g.35732610G>CCA405425483KMT2Bn.367G>C
c.5995G>C (p.Gly1999Arg)
c.3602G>C (n.3602G>C)
c.1279G>C (p.Gly427Arg)
n.1214G>C
c.1282G>C (p.Gly428Arg)
c.5603G>C
c.6061G>C (p.Gly2021Arg)
c.704+281G>C (n.704+281G>C)
c.3383G>C
c.5785G>C (p.Gly1929Arg)
c.5497G>C (p.Gly1833Arg)
c.3025G>C (p.Gly1009Arg)
19g.35732610G>TCA405425485KMT2Bn.367G>T
c.5995G>T (p.Gly1999Trp)
c.3602G>T (n.3602G>T)
c.1279G>T (p.Gly427Trp)
n.1214G>T
c.1282G>T (p.Gly428Trp)
c.5603G>T
c.6061G>T (p.Gly2021Trp)
c.704+281G>T (n.704+281G>T)
c.3383G>T
c.5785G>T (p.Gly1929Trp)
c.5497G>T (p.Gly1833Trp)
c.3025G>T (p.Gly1009Trp)
19g.35732611G>ACA307796221KMT2Bn.368G>A
c.5996G>A (p.Gly1999Glu)
c.3603G>A (n.3603G>A)
c.1280G>A (p.Gly427Glu)
n.1215G>A
c.1283G>A (p.Gly428Glu)
c.5604G>A
c.6062G>A (p.Gly2021Glu)
c.704+282G>A (n.704+282G>A)
c.3384G>A
c.5786G>A (p.Gly1929Glu)
c.5498G>A (p.Gly1833Glu)
c.3026G>A (p.Gly1009Glu)
dbSNP gnomAD v2 gnomAD v4
19g.35732611G>CCA405425489KMT2Bn.368G>C
c.5996G>C (p.Gly1999Ala)
c.3603G>C (n.3603G>C)
c.1280G>C (p.Gly427Ala)
n.1215G>C
c.1283G>C (p.Gly428Ala)
c.5604G>C
c.6062G>C (p.Gly2021Ala)
c.704+282G>C (n.704+282G>C)
c.3384G>C
c.5786G>C (p.Gly1929Ala)
c.5498G>C (p.Gly1833Ala)
c.3026G>C (p.Gly1009Ala)
19g.35732611G=CA2333794399KMT2Bn.368G=
c.5996G= (p.Gly1999=)
c.3603G= (n.3603G=)
c.1280G= (p.Gly427=)
n.1215G=
c.1283G= (p.Gly428=)
c.5604G=
c.6062G= (p.Gly2021=)
c.704+282G= (n.704+282G=)
c.3384G=
c.5786G= (p.Gly1929=)
c.5498G= (p.Gly1833=)
c.3026G= (p.Gly1009=)
19g.35732611G>TCA405425491KMT2Bn.368G>T
c.5996G>T (p.Gly1999Val)
c.3603G>T (n.3603G>T)
c.1280G>T (p.Gly427Val)
n.1215G>T
c.1283G>T (p.Gly428Val)
c.5604G>T
c.6062G>T (p.Gly2021Val)
c.704+282G>T (n.704+282G>T)
c.3384G>T
c.5786G>T (p.Gly1929Val)
c.5498G>T (p.Gly1833Val)
c.3026G>T (p.Gly1009Val)
19g.35732612G>ACA9385598KMT2Bn.369G>A
c.5997G>A (p.Gly1999=)
c.3604G>A (n.3604G>A)
c.1281G>A (p.Gly427=)
n.1216G>A
c.1284G>A (p.Gly428=)
c.5605G>A
c.6063G>A (p.Gly2021=)
c.704+283G>A (n.704+283G>A)
c.3385G>A
c.5787G>A (p.Gly1929=)
c.5499G>A (p.Gly1833=)
c.3027G>A (p.Gly1009=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35732612G>CCA507308336KMT2Bn.369G>C
c.5997G>C (p.Gly1999=)
c.3604G>C (n.3604G>C)
c.1281G>C (p.Gly427=)
n.1216G>C
c.1284G>C (p.Gly428=)
c.5605G>C
c.6063G>C (p.Gly2021=)
c.704+283G>C (n.704+283G>C)
c.3385G>C
c.5787G>C (p.Gly1929=)
c.5499G>C (p.Gly1833=)
c.3027G>C (p.Gly1009=)
19g.35732612G=CA2333794400KMT2Bn.369G=
c.5997G= (p.Gly1999=)
c.3604G= (n.3604G=)
c.1281G= (p.Gly427=)
n.1216G=
c.1284G= (p.Gly428=)
c.5605G=
c.6063G= (p.Gly2021=)
c.704+283G= (n.704+283G=)
c.3385G=
c.5787G= (p.Gly1929=)
c.5499G= (p.Gly1833=)
c.3027G= (p.Gly1009=)
19g.35732612G>TCA507308337KMT2Bn.369G>T
c.5997G>T (p.Gly1999=)
c.3604G>T (n.3604G>T)
c.1281G>T (p.Gly427=)
n.1216G>T
c.1284G>T (p.Gly428=)
c.5605G>T
c.6063G>T (p.Gly2021=)
c.704+283G>T (n.704+283G>T)
c.3385G>T
c.5787G>T (p.Gly1929=)
c.5499G>T (p.Gly1833=)
c.3027G>T (p.Gly1009=)
gnomAD v4
19g.35732613G>ACA405425495KMT2Bn.370G>A
c.5998G>A (p.Asp2000Asn)
c.3605G>A (n.3605G>A)
c.1282G>A (p.Asp428Asn)
n.1217G>A
c.1285G>A (p.Asp429Asn)
c.5606G>A
c.6064G>A (p.Asp2022Asn)
c.704+284G>A (n.704+284G>A)
c.3386G>A
c.5788G>A (p.Asp1930Asn)
c.5500G>A (p.Asp1834Asn)
c.3028G>A (p.Asp1010Asn)
gnomAD v4
19g.35732613G>CCA405425496KMT2Bn.370G>C
c.5998G>C (p.Asp2000His)
c.3605G>C (n.3605G>C)
c.1282G>C (p.Asp428His)
n.1217G>C
c.1285G>C (p.Asp429His)
c.5606G>C
c.6064G>C (p.Asp2022His)
c.704+284G>C (n.704+284G>C)
c.3386G>C
c.5788G>C (p.Asp1930His)
c.5500G>C (p.Asp1834His)
c.3028G>C (p.Asp1010His)
gnomAD v4
19g.35732613G=CA2333794401KMT2Bn.370G=
c.5998G= (p.Asp2000=)
c.3605G= (n.3605G=)
c.1282G= (p.Asp428=)
n.1217G=
c.1285G= (p.Asp429=)
c.5606G=
c.6064G= (p.Asp2022=)
c.704+284G= (n.704+284G=)
c.3386G=
c.5788G= (p.Asp1930=)
c.5500G= (p.Asp1834=)
c.3028G= (p.Asp1010=)
19g.35732613G>TCA405425498KMT2Bn.370G>T
c.5998G>T (p.Asp2000Tyr)
c.3605G>T (n.3605G>T)
c.1282G>T (p.Asp428Tyr)
n.1217G>T
c.1285G>T (p.Asp429Tyr)
c.5606G>T
c.6064G>T (p.Asp2022Tyr)
c.704+284G>T (n.704+284G>T)
c.3386G>T
c.5788G>T (p.Asp1930Tyr)
c.5500G>T (p.Asp1834Tyr)
c.3028G>T (p.Asp1010Tyr)
dbSNP gnomAD v2 gnomAD v4
19g.35732614A>CCA405425504KMT2Bn.371A>C
c.5999A>C (p.Asp2000Ala)
c.3606A>C (n.3606A>C)
c.1283A>C (p.Asp428Ala)
n.1218A>C
c.1286A>C (p.Asp429Ala)
c.5607A>C
c.6065A>C (p.Asp2022Ala)
c.704+285A>C (n.704+285A>C)
c.3387A>C
c.5789A>C (p.Asp1930Ala)
c.5501A>C (p.Asp1834Ala)
c.3029A>C (p.Asp1010Ala)
19g.35732614A>GCA405425502KMT2Bn.371A>G
c.5999A>G (p.Asp2000Gly)
c.3606A>G (n.3606A>G)
c.1283A>G (p.Asp428Gly)
n.1218A>G
c.1286A>G (p.Asp429Gly)
c.5607A>G
c.6065A>G (p.Asp2022Gly)
c.704+285A>G (n.704+285A>G)
c.3387A>G
c.5789A>G (p.Asp1930Gly)
c.5501A>G (p.Asp1834Gly)
c.3029A>G (p.Asp1010Gly)
19g.35732614A>TCA405425501KMT2Bn.371A>T
c.5999A>T (p.Asp2000Val)
c.3606A>T (n.3606A>T)
c.1283A>T (p.Asp428Val)
n.1218A>T
c.1286A>T (p.Asp429Val)
c.5607A>T
c.6065A>T (p.Asp2022Val)
c.704+285A>T (n.704+285A>T)
c.3387A>T
c.5789A>T (p.Asp1930Val)
c.5501A>T (p.Asp1834Val)
c.3029A>T (p.Asp1010Val)
19g.35732615C>ACA405425507KMT2Bn.372C>A
c.6000C>A (p.Asp2000Glu)
c.3607C>A (n.3607C>A)
c.1284C>A (p.Asp428Glu)
n.1219C>A
c.1287C>A (p.Asp429Glu)
c.5608C>A
c.6066C>A (p.Asp2022Glu)
c.704+286C>A (n.704+286C>A)
c.3388C>A
c.5790C>A (p.Asp1930Glu)
c.5502C>A (p.Asp1834Glu)
c.3030C>A (p.Asp1010Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35732615C=CA2333794402KMT2Bn.372C=
c.6000C= (p.Asp2000=)
c.3607C= (n.3607C=)
c.1284C= (p.Asp428=)
n.1219C=
c.1287C= (p.Asp429=)
c.5608C=
c.6066C= (p.Asp2022=)
c.704+286C= (n.704+286C=)
c.3388C=
c.5790C= (p.Asp1930=)
c.5502C= (p.Asp1834=)
c.3030C= (p.Asp1010=)
19g.35732615C>GCA405425508KMT2Bn.372C>G
c.6000C>G (p.Asp2000Glu)
c.3607C>G (n.3607C>G)
c.1284C>G (p.Asp428Glu)
n.1219C>G
c.1287C>G (p.Asp429Glu)
c.5608C>G
c.6066C>G (p.Asp2022Glu)
c.704+286C>G (n.704+286C>G)
c.3388C>G
c.5790C>G (p.Asp1930Glu)
c.5502C>G (p.Asp1834Glu)
c.3030C>G (p.Asp1010Glu)
19g.35732615C>TCA507308341KMT2Bn.372C>T
c.6000C>T (p.Asp2000=)
c.3607C>T (n.3607C>T)
c.1284C>T (p.Asp428=)
n.1219C>T
c.1287C>T (p.Asp429=)
c.5608C>T
c.6066C>T (p.Asp2022=)
c.704+286C>T (n.704+286C>T)
c.3388C>T
c.5790C>T (p.Asp1930=)
c.5502C>T (p.Asp1834=)
c.3030C>T (p.Asp1010=)
dbSNP gnomAD v2
19g.35732616A>CCA405425511KMT2Bn.373A>C
c.6001A>C (p.Ser2001Arg)
c.3608A>C (n.3608A>C)
c.1285A>C (p.Ser429Arg)
n.1220A>C
c.1288A>C (p.Ser430Arg)
c.5609A>C
c.6067A>C (p.Ser2023Arg)
c.704+287A>C (n.704+287A>C)
c.3389A>C
c.5791A>C (p.Ser1931Arg)
c.5503A>C (p.Ser1835Arg)
c.3031A>C (p.Ser1011Arg)
19g.35732616A>GCA405425513KMT2Bn.373A>G
c.6001A>G (p.Ser2001Gly)
c.3608A>G (n.3608A>G)
c.1285A>G (p.Ser429Gly)
n.1220A>G
c.1288A>G (p.Ser430Gly)
c.5609A>G
c.6067A>G (p.Ser2023Gly)
c.704+287A>G (n.704+287A>G)
c.3389A>G
c.5791A>G (p.Ser1931Gly)
c.5503A>G (p.Ser1835Gly)
c.3031A>G (p.Ser1011Gly)
19g.35732616A>TCA405425515KMT2Bn.373A>T
c.6001A>T (p.Ser2001Cys)
c.3608A>T (n.3608A>T)
c.1285A>T (p.Ser429Cys)
n.1220A>T
c.1288A>T (p.Ser430Cys)
c.5609A>T
c.6067A>T (p.Ser2023Cys)
c.704+287A>T (n.704+287A>T)
c.3389A>T
c.5791A>T (p.Ser1931Cys)
c.5503A>T (p.Ser1835Cys)
c.3031A>T (p.Ser1011Cys)
gnomAD v4
19g.35732617G>ACA405425518KMT2Bn.374G>A
c.6002G>A (p.Ser2001Asn)
c.3609G>A (n.3609G>A)
c.1286G>A (p.Ser429Asn)
n.1221G>A
c.1289G>A (p.Ser430Asn)
c.5610G>A
c.6068G>A (p.Ser2023Asn)
c.704+288G>A (n.704+288G>A)
c.3390G>A
c.5792G>A (p.Ser1931Asn)
c.5504G>A (p.Ser1835Asn)
c.3032G>A (p.Ser1011Asn)
COSMIC
19g.35732617G>CCA405425520KMT2Bn.374G>C
c.6002G>C (p.Ser2001Thr)
c.3609G>C (n.3609G>C)
c.1286G>C (p.Ser429Thr)
n.1221G>C
c.1289G>C (p.Ser430Thr)
c.5610G>C
c.6068G>C (p.Ser2023Thr)
c.704+288G>C (n.704+288G>C)
c.3390G>C
c.5792G>C (p.Ser1931Thr)
c.5504G>C (p.Ser1835Thr)
c.3032G>C (p.Ser1011Thr)
19g.35732617G>TCA405425522KMT2Bn.374G>T
c.6002G>T (p.Ser2001Ile)
c.3609G>T (n.3609G>T)
c.1286G>T (p.Ser429Ile)
n.1221G>T
c.1289G>T (p.Ser430Ile)
c.5610G>T
c.6068G>T (p.Ser2023Ile)
c.704+288G>T (n.704+288G>T)
c.3390G>T
c.5792G>T (p.Ser1931Ile)
c.5504G>T (p.Ser1835Ile)
c.3032G>T (p.Ser1011Ile)
19g.35732617_35732620delinsGCTCCA2333794403KMT2Bn.374_377delinsGCTC
c.6002_6005delinsGCTC (p.Ser2001=)
c.3609_3612delinsGCTC (n.3609_3612delinsGCTC)
c.1286_1289delinsGCTC (p.Ser429=)
n.1221_1224delinsGCTC
c.1289_1292delinsGCTC (p.Ser430=)
c.5610_5613delinsGCTC
c.6068_6071delinsGCTC (p.Ser2023=)
c.704+288_704+291delinsGCTC (n.704+288_704+291delinsGCTC)
c.3390_3393delinsGCTC
c.5792_5795delinsGCTC (p.Ser1931=)
c.5504_5507delinsGCTC (p.Ser1835=)
c.3032_3035delinsGCTC (p.Ser1011=)
19g.35732618C>ACA405425526KMT2Bn.375C>A
c.6003C>A (p.Ser2001Arg)
c.3610C>A (n.3610C>A)
c.1287C>A (p.Ser429Arg)
n.1222C>A
c.1290C>A (p.Ser430Arg)
c.5611C>A
c.6069C>A (p.Ser2023Arg)
c.704+289C>A (n.704+289C>A)
c.3391C>A
c.5793C>A (p.Ser1931Arg)
c.5505C>A (p.Ser1835Arg)
c.3033C>A (p.Ser1011Arg)
19g.35732618C>GCA405425527KMT2Bn.375C>G
c.6003C>G (p.Ser2001Arg)
c.3610C>G (n.3610C>G)
c.1287C>G (p.Ser429Arg)
n.1222C>G
c.1290C>G (p.Ser430Arg)
c.5611C>G
c.6069C>G (p.Ser2023Arg)
c.704+289C>G (n.704+289C>G)
c.3391C>G
c.5793C>G (p.Ser1931Arg)
c.5505C>G (p.Ser1835Arg)
c.3033C>G (p.Ser1011Arg)
19g.35732618C>TCA507308345KMT2Bn.375C>T
c.6003C>T (p.Ser2001=)
c.3610C>T (n.3610C>T)
c.1287C>T (p.Ser429=)
n.1222C>T
c.1290C>T (p.Ser430=)
c.5611C>T
c.6069C>T (p.Ser2023=)
c.704+289C>T (n.704+289C>T)
c.3391C>T
c.5793C>T (p.Ser1931=)
c.5505C>T (p.Ser1835=)
c.3033C>T (p.Ser1011=)
19g.35732619_35732621delCA633059479KMT2Bn.376_378del
c.6004_6006del (p.Ser2002del)
c.3611_3613del (n.3611_3613del)
c.1288_1290del (p.Ser430del)
n.1223_1225del
c.1291_1293del (p.Ser431del)
c.5612_5614del
c.6070_6072del (p.Ser2024del)
c.704+290_704+292del (n.704+290_704+292del)
c.3392_3394del
c.5794_5796del (p.Ser1932del)
c.5506_5508del (p.Ser1836del)
c.3034_3036del (p.Ser1012del)
dbSNP gnomAD v2 gnomAD v4
19g.35732619T>ACA405425530KMT2Bn.376T>A
c.6004T>A (p.Ser2002Thr)
c.3611T>A (n.3611T>A)
c.1288T>A (p.Ser430Thr)
n.1223T>A
c.1291T>A (p.Ser431Thr)
c.5612T>A
c.6070T>A (p.Ser2024Thr)
c.704+290T>A (n.704+290T>A)
c.3392T>A
c.5794T>A (p.Ser1932Thr)
c.5506T>A (p.Ser1836Thr)
c.3034T>A (p.Ser1012Thr)
19g.35732619T>CCA405425532KMT2Bn.376T>C
c.6004T>C (p.Ser2002Pro)
c.3611T>C (n.3611T>C)
c.1288T>C (p.Ser430Pro)
n.1223T>C
c.1291T>C (p.Ser431Pro)
c.5612T>C
c.6070T>C (p.Ser2024Pro)
c.704+290T>C (n.704+290T>C)
c.3392T>C
c.5794T>C (p.Ser1932Pro)
c.5506T>C (p.Ser1836Pro)
c.3034T>C (p.Ser1012Pro)
19g.35732619T>GCA405425534KMT2Bn.376T>G
c.6004T>G (p.Ser2002Ala)
c.3611T>G (n.3611T>G)
c.1288T>G (p.Ser430Ala)
n.1223T>G
c.1291T>G (p.Ser431Ala)
c.5612T>G
c.6070T>G (p.Ser2024Ala)
c.704+290T>G (n.704+290T>G)
c.3392T>G
c.5794T>G (p.Ser1932Ala)
c.5506T>G (p.Ser1836Ala)
c.3034T>G (p.Ser1012Ala)
19g.35732620C>ACA405425540KMT2Bn.377C>A
c.6005C>A (p.Ser2002Tyr)
c.3612C>A (n.3612C>A)
c.1289C>A (p.Ser430Tyr)
n.1224C>A
c.1292C>A (p.Ser431Tyr)
c.5613C>A
c.6071C>A (p.Ser2024Tyr)
c.704+291C>A (n.704+291C>A)
c.3393C>A
c.5795C>A (p.Ser1932Tyr)
c.5507C>A (p.Ser1836Tyr)
c.3035C>A (p.Ser1012Tyr)
19g.35732620C=CA2333794404KMT2Bn.377C=
c.6005C= (p.Ser2002=)
c.3612C= (n.3612C=)
c.1289C= (p.Ser430=)
n.1224C=
c.1292C= (p.Ser431=)
c.5613C=
c.6071C= (p.Ser2024=)
c.704+291C= (n.704+291C=)
c.3393C=
c.5795C= (p.Ser1932=)
c.5507C= (p.Ser1836=)
c.3035C= (p.Ser1012=)
19g.35732620C>GCA9385599KMT2Bn.377C>G
c.6005C>G (p.Ser2002Cys)
c.3612C>G (n.3612C>G)
c.1289C>G (p.Ser430Cys)
n.1224C>G
c.1292C>G (p.Ser431Cys)
c.5613C>G
c.6071C>G (p.Ser2024Cys)
c.704+291C>G (n.704+291C>G)
c.3393C>G
c.5795C>G (p.Ser1932Cys)
c.5507C>G (p.Ser1836Cys)
c.3035C>G (p.Ser1012Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35732620C>TCA405425538KMT2Bn.377C>T
c.6005C>T (p.Ser2002Phe)
c.3612C>T (n.3612C>T)
c.1289C>T (p.Ser430Phe)
n.1224C>T
c.1292C>T (p.Ser431Phe)
c.5613C>T
c.6071C>T (p.Ser2024Phe)
c.704+291C>T (n.704+291C>T)
c.3393C>T
c.5795C>T (p.Ser1932Phe)
c.5507C>T (p.Ser1836Phe)
c.3035C>T (p.Ser1012Phe)
19g.35732621C>ACA507308347KMT2Bn.378C>A
c.6006C>A (p.Ser2002=)
c.3613C>A (n.3613C>A)
c.1290C>A (p.Ser430=)
n.1225C>A
c.1293C>A (p.Ser431=)
c.5614C>A
c.6072C>A (p.Ser2024=)
c.704+292C>A (n.704+292C>A)
c.3394C>A
c.5796C>A (p.Ser1932=)
c.5508C>A (p.Ser1836=)
c.3036C>A (p.Ser1012=)
19g.35732621C=CA2333794405KMT2Bn.378C=
c.6006C= (p.Ser2002=)
c.3613C= (n.3613C=)
c.1290C= (p.Ser430=)
n.1225C=
c.1293C= (p.Ser431=)
c.5614C=
c.6072C= (p.Ser2024=)
c.704+292C= (n.704+292C=)
c.3394C=
c.5796C= (p.Ser1932=)
c.5508C= (p.Ser1836=)
c.3036C= (p.Ser1012=)
19g.35732621C>GCA507308348KMT2Bn.378C>G
c.6006C>G (p.Ser2002=)
c.3613C>G (n.3613C>G)
c.1290C>G (p.Ser430=)
n.1225C>G
c.1293C>G (p.Ser431=)
c.5614C>G
c.6072C>G (p.Ser2024=)
c.704+292C>G (n.704+292C>G)
c.3394C>G
c.5796C>G (p.Ser1932=)
c.5508C>G (p.Ser1836=)
c.3036C>G (p.Ser1012=)
gnomAD v4
19g.35732621C>TCA9385600KMT2Bn.378C>T
c.6006C>T (p.Ser2002=)
c.3613C>T (n.3613C>T)
c.1290C>T (p.Ser430=)
n.1225C>T
c.1293C>T (p.Ser431=)
c.5614C>T
c.6072C>T (p.Ser2024=)
c.704+292C>T (n.704+292C>T)
c.3394C>T
c.5796C>T (p.Ser1932=)
c.5508C>T (p.Ser1836=)
c.3036C>T (p.Ser1012=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35732622G>ACA9385601KMT2Bn.379G>A
c.6007G>A (p.Glu2003Lys)
c.3614G>A (n.3614G>A)
c.1291G>A (p.Glu431Lys)
n.1226G>A
c.1294G>A (p.Glu432Lys)
c.5615G>A
c.6073G>A (p.Glu2025Lys)
c.704+293G>A (n.704+293G>A)
c.3395G>A
c.5797G>A (p.Glu1933Lys)
c.5509G>A (p.Glu1837Lys)
c.3037G>A (p.Glu1013Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35732622G>CCA405425546KMT2Bn.379G>C
c.6007G>C (p.Glu2003Gln)
c.3614G>C (n.3614G>C)
c.1291G>C (p.Glu431Gln)
n.1226G>C
c.1294G>C (p.Glu432Gln)
c.5615G>C
c.6073G>C (p.Glu2025Gln)
c.704+293G>C (n.704+293G>C)
c.3395G>C
c.5797G>C (p.Glu1933Gln)
c.5509G>C (p.Glu1837Gln)
c.3037G>C (p.Glu1013Gln)
19g.35732622G=CA2333794406KMT2Bn.379G=
c.6007G= (p.Glu2003=)
c.3614G= (n.3614G=)
c.1291G= (p.Glu431=)
n.1226G=
c.1294G= (p.Glu432=)
c.5615G=
c.6073G= (p.Glu2025=)
c.704+293G= (n.704+293G=)
c.3395G=
c.5797G= (p.Glu1933=)
c.5509G= (p.Glu1837=)
c.3037G= (p.Glu1013=)
19g.35732622G>TCA405425548KMT2Bn.379G>T
c.6007G>T (p.Glu2003Ter)
c.3614G>T (n.3614G>T)
c.1291G>T (p.Glu431Ter)
n.1226G>T
c.1294G>T (p.Glu432Ter)
c.5615G>T
c.6073G>T (p.Glu2025Ter)
c.704+293G>T (n.704+293G>T)
c.3395G>T
c.5797G>T (p.Glu1933Ter)
c.5509G>T (p.Glu1837Ter)
c.3037G>T (p.Glu1013Ter)
19g.35732628_35732630delCA2576757208KMT2Bn.385_387del
c.6013_6015del (p.Glu2005del)
c.3620_3622del (n.3620_3622del)
c.1297_1299del (p.Glu433del)
n.1232_1234del
c.1300_1302del (p.Glu434del)
c.5621_5623del
c.6079_6081del (p.Glu2027del)
c.704+299_704+301del (n.704+299_704+301del)
c.3401_3403del
c.5803_5805del (p.Glu1935del)
c.5515_5517del (p.Glu1839del)
c.3043_3045del (p.Glu1015del)
19g.35732623A>CCA405425551KMT2Bn.380A>C
c.6008A>C (p.Glu2003Ala)
c.3615A>C (n.3615A>C)
c.1292A>C (p.Glu431Ala)
n.1227A>C
c.1295A>C (p.Glu432Ala)
c.5616A>C
c.6074A>C (p.Glu2025Ala)
c.704+294A>C (n.704+294A>C)
c.3396A>C
c.5798A>C (p.Glu1933Ala)
c.5510A>C (p.Glu1837Ala)
c.3038A>C (p.Glu1013Ala)
19g.35732623A>GCA405425553KMT2Bn.380A>G
c.6008A>G (p.Glu2003Gly)
c.3615A>G (n.3615A>G)
c.1292A>G (p.Glu431Gly)
n.1227A>G
c.1295A>G (p.Glu432Gly)
c.5616A>G
c.6074A>G (p.Glu2025Gly)
c.704+294A>G (n.704+294A>G)
c.3396A>G
c.5798A>G (p.Glu1933Gly)
c.5510A>G (p.Glu1837Gly)
c.3038A>G (p.Glu1013Gly)
19g.35732623A>TCA405425555KMT2Bn.380A>T
c.6008A>T (p.Glu2003Val)
c.3615A>T (n.3615A>T)
c.1292A>T (p.Glu431Val)
n.1227A>T
c.1295A>T (p.Glu432Val)
c.5616A>T
c.6074A>T (p.Glu2025Val)
c.704+294A>T (n.704+294A>T)
c.3396A>T
c.5798A>T (p.Glu1933Val)
c.5510A>T (p.Glu1837Val)
c.3038A>T (p.Glu1013Val)
19g.35732624G>ACA507308353KMT2Bn.381G>A
c.6009G>A (p.Glu2003=)
c.3616G>A (n.3616G>A)
c.1293G>A (p.Glu431=)
n.1228G>A
c.1296G>A (p.Glu432=)
c.5617G>A
c.6075G>A (p.Glu2025=)
c.704+295G>A (n.704+295G>A)
c.3397G>A
c.5799G>A (p.Glu1933=)
c.5511G>A (p.Glu1837=)
c.3039G>A (p.Glu1013=)
19g.35732624G>CCA405425558KMT2Bn.381G>C
c.6009G>C (p.Glu2003Asp)
c.3616G>C (n.3616G>C)
c.1293G>C (p.Glu431Asp)
n.1228G>C
c.1296G>C (p.Glu432Asp)
c.5617G>C
c.6075G>C (p.Glu2025Asp)
c.704+295G>C (n.704+295G>C)
c.3397G>C
c.5799G>C (p.Glu1933Asp)
c.5511G>C (p.Glu1837Asp)
c.3039G>C (p.Glu1013Asp)
19g.35732624G>TCA405425560KMT2Bn.381G>T
c.6009G>T (p.Glu2003Asp)
c.3616G>T (n.3616G>T)
c.1293G>T (p.Glu431Asp)
n.1228G>T
c.1296G>T (p.Glu432Asp)
c.5617G>T
c.6075G>T (p.Glu2025Asp)
c.704+295G>T (n.704+295G>T)
c.3397G>T
c.5799G>T (p.Glu1933Asp)
c.5511G>T (p.Glu1837Asp)
c.3039G>T (p.Glu1013Asp)
19g.35732625G>ACA405425563KMT2Bn.382G>A
c.6010G>A (p.Glu2004Lys)
c.3617G>A (n.3617G>A)
c.1294G>A (p.Glu432Lys)
n.1229G>A
c.1297G>A (p.Glu433Lys)
c.5618G>A
c.6076G>A (p.Glu2026Lys)
c.704+296G>A (n.704+296G>A)
c.3398G>A
c.5800G>A (p.Glu1934Lys)
c.5512G>A (p.Glu1838Lys)
c.3040G>A (p.Glu1014Lys)
gnomAD v4
19g.35732625G>CCA405425565KMT2Bn.382G>C
c.6010G>C (p.Glu2004Gln)
c.3617G>C (n.3617G>C)
c.1294G>C (p.Glu432Gln)
n.1229G>C
c.1297G>C (p.Glu433Gln)
c.5618G>C
c.6076G>C (p.Glu2026Gln)
c.704+296G>C (n.704+296G>C)
c.3398G>C
c.5800G>C (p.Glu1934Gln)
c.5512G>C (p.Glu1838Gln)
c.3040G>C (p.Glu1014Gln)
19g.35732625G>TCA405425567KMT2Bn.382G>T
c.6010G>T (p.Glu2004Ter)
c.3617G>T (n.3617G>T)
c.1294G>T (p.Glu432Ter)
n.1229G>T
c.1297G>T (p.Glu433Ter)
c.5618G>T
c.6076G>T (p.Glu2026Ter)
c.704+296G>T (n.704+296G>T)
c.3398G>T
c.5800G>T (p.Glu1934Ter)
c.5512G>T (p.Glu1838Ter)
c.3040G>T (p.Glu1014Ter)
19g.35732626A>CCA405425570KMT2Bn.383A>C
c.6011A>C (p.Glu2004Ala)
c.3618A>C (n.3618A>C)
c.1295A>C (p.Glu432Ala)
n.1230A>C
c.1298A>C (p.Glu433Ala)
c.5619A>C
c.6077A>C (p.Glu2026Ala)
c.704+297A>C (n.704+297A>C)
c.3399A>C
c.5801A>C (p.Glu1934Ala)
c.5513A>C (p.Glu1838Ala)
c.3041A>C (p.Glu1014Ala)
19g.35732626A>GCA405425573KMT2Bn.383A>G
c.6011A>G (p.Glu2004Gly)
c.3618A>G (n.3618A>G)
c.1295A>G (p.Glu432Gly)
n.1230A>G
c.1298A>G (p.Glu433Gly)
c.5619A>G
c.6077A>G (p.Glu2026Gly)
c.704+297A>G (n.704+297A>G)
c.3399A>G
c.5801A>G (p.Glu1934Gly)
c.5513A>G (p.Glu1838Gly)
c.3041A>G (p.Glu1014Gly)
19g.35732626A>TCA405425571KMT2Bn.383A>T
c.6011A>T (p.Glu2004Val)
c.3618A>T (n.3618A>T)
c.1295A>T (p.Glu432Val)
n.1230A>T
c.1298A>T (p.Glu433Val)
c.5619A>T
c.6077A>T (p.Glu2026Val)
c.704+297A>T (n.704+297A>T)
c.3399A>T
c.5801A>T (p.Glu1934Val)
c.5513A>T (p.Glu1838Val)
c.3041A>T (p.Glu1014Val)
19g.35732627G>ACA507308364KMT2Bn.384G>A
c.6012G>A (p.Glu2004=)
c.3619G>A (n.3619G>A)
c.1296G>A (p.Glu432=)
n.1231G>A
c.1299G>A (p.Glu433=)
c.5620G>A
c.6078G>A (p.Glu2026=)
c.704+298G>A (n.704+298G>A)
c.3400G>A
c.5802G>A (p.Glu1934=)
c.5514G>A (p.Glu1838=)
c.3042G>A (p.Glu1014=)
19g.35732627G>CCA405425575KMT2Bn.384G>C
c.6012G>C (p.Glu2004Asp)
c.3619G>C (n.3619G>C)
c.1296G>C (p.Glu432Asp)
n.1231G>C
c.1299G>C (p.Glu433Asp)
c.5620G>C
c.6078G>C (p.Glu2026Asp)
c.704+298G>C (n.704+298G>C)
c.3400G>C
c.5802G>C (p.Glu1934Asp)
c.5514G>C (p.Glu1838Asp)
c.3042G>C (p.Glu1014Asp)
gnomAD v4
19g.35732627G>TCA405425578KMT2Bn.384G>T
c.6012G>T (p.Glu2004Asp)
c.3619G>T (n.3619G>T)
c.1296G>T (p.Glu432Asp)
n.1231G>T
c.1299G>T (p.Glu433Asp)
c.5620G>T
c.6078G>T (p.Glu2026Asp)
c.704+298G>T (n.704+298G>T)
c.3400G>T
c.5802G>T (p.Glu1934Asp)
c.5514G>T (p.Glu1838Asp)
c.3042G>T (p.Glu1014Asp)
19g.35732628G>ACA405425580KMT2Bn.385G>A
c.6013G>A (p.Glu2005Lys)
c.3620G>A (n.3620G>A)
c.1297G>A (p.Glu433Lys)
n.1232G>A
c.1300G>A (p.Glu434Lys)
c.5621G>A
c.6079G>A (p.Glu2027Lys)
c.704+299G>A (n.704+299G>A)
c.3401G>A
c.5803G>A (p.Glu1935Lys)
c.5515G>A (p.Glu1839Lys)
c.3043G>A (p.Glu1015Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35732628G>CCA405425584KMT2Bn.385G>C
c.6013G>C (p.Glu2005Gln)
c.3620G>C (n.3620G>C)
c.1297G>C (p.Glu433Gln)
n.1232G>C
c.1300G>C (p.Glu434Gln)
c.5621G>C
c.6079G>C (p.Glu2027Gln)
c.704+299G>C (n.704+299G>C)
c.3401G>C
c.5803G>C (p.Glu1935Gln)
c.5515G>C (p.Glu1839Gln)
c.3043G>C (p.Glu1015Gln)
19g.35732628G=CA2333794407KMT2Bn.385G=
c.6013G= (p.Glu2005=)
c.3620G= (n.3620G=)
c.1297G= (p.Glu433=)
n.1232G=
c.1300G= (p.Glu434=)
c.5621G=
c.6079G= (p.Glu2027=)
c.704+299G= (n.704+299G=)
c.3401G=
c.5803G= (p.Glu1935=)
c.5515G= (p.Glu1839=)
c.3043G= (p.Glu1015=)
19g.35732628G>TCA405425581KMT2Bn.385G>T
c.6013G>T (p.Glu2005Ter)
c.3620G>T (n.3620G>T)
c.1297G>T (p.Glu433Ter)
n.1232G>T
c.1300G>T (p.Glu434Ter)
c.5621G>T
c.6079G>T (p.Glu2027Ter)
c.704+299G>T (n.704+299G>T)
c.3401G>T
c.5803G>T (p.Glu1935Ter)
c.5515G>T (p.Glu1839Ter)
c.3043G>T (p.Glu1015Ter)
dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.35732629A=CA2333794408KMT2Bn.386A=
c.6014A= (p.Glu2005=)
c.3621A= (n.3621A=)
c.1298A= (p.Glu433=)
n.1233A=
c.1301A= (p.Glu434=)
c.5622A=
c.6080A= (p.Glu2027=)
c.704+300A= (n.704+300A=)
c.3402A=
c.5804A= (p.Glu1935=)
c.5516A= (p.Glu1839=)
c.3044A= (p.Glu1015=)
19g.35732629A>CCA405425587KMT2Bn.386A>C
c.6014A>C (p.Glu2005Ala)
c.3621A>C (n.3621A>C)
c.1298A>C (p.Glu433Ala)
n.1233A>C
c.1301A>C (p.Glu434Ala)
c.5622A>C
c.6080A>C (p.Glu2027Ala)
c.704+300A>C (n.704+300A>C)
c.3402A>C
c.5804A>C (p.Glu1935Ala)
c.5516A>C (p.Glu1839Ala)
c.3044A>C (p.Glu1015Ala)
dbSNP gnomAD v4
19g.35732629A>GCA405425588KMT2Bn.386A>G
c.6014A>G (p.Glu2005Gly)
c.3621A>G (n.3621A>G)
c.1298A>G (p.Glu433Gly)
n.1233A>G
c.1301A>G (p.Glu434Gly)
c.5622A>G
c.6080A>G (p.Glu2027Gly)
c.704+300A>G (n.704+300A>G)
c.3402A>G
c.5804A>G (p.Glu1935Gly)
c.5516A>G (p.Glu1839Gly)
c.3044A>G (p.Glu1015Gly)
gnomAD v4
19g.35732629A>TCA405425590KMT2Bn.386A>T
c.6014A>T (p.Glu2005Val)
c.3621A>T (n.3621A>T)
c.1298A>T (p.Glu433Val)
n.1233A>T
c.1301A>T (p.Glu434Val)
c.5622A>T
c.6080A>T (p.Glu2027Val)
c.704+300A>T (n.704+300A>T)
c.3402A>T
c.5804A>T (p.Glu1935Val)
c.5516A>T (p.Glu1839Val)
c.3044A>T (p.Glu1015Val)
19g.35732630G>ACA507308375KMT2Bn.387G>A
c.6015G>A (p.Glu2005=)
c.3622G>A (n.3622G>A)
c.1299G>A (p.Glu433=)
n.1234G>A
c.1302G>A (p.Glu434=)
c.5623G>A
c.6081G>A (p.Glu2027=)
c.704+301G>A (n.704+301G>A)
c.3403G>A
c.5805G>A (p.Glu1935=)
c.5517G>A (p.Glu1839=)
c.3045G>A (p.Glu1015=)
dbSNP gnomAD v2 gnomAD v4
19g.35732630G>CCA405425593KMT2Bn.387G>C
c.6015G>C (p.Glu2005Asp)
c.3622G>C (n.3622G>C)
c.1299G>C (p.Glu433Asp)
n.1234G>C
c.1302G>C (p.Glu434Asp)
c.5623G>C
c.6081G>C (p.Glu2027Asp)
c.704+301G>C (n.704+301G>C)
c.3403G>C
c.5805G>C (p.Glu1935Asp)
c.5517G>C (p.Glu1839Asp)
c.3045G>C (p.Glu1015Asp)
19g.35732630G=CA2333794409KMT2Bn.387G=
c.6015G= (p.Glu2005=)
c.3622G= (n.3622G=)
c.1299G= (p.Glu433=)
n.1234G=
c.1302G= (p.Glu434=)
c.5623G=
c.6081G= (p.Glu2027=)
c.704+301G= (n.704+301G=)
c.3403G=
c.5805G= (p.Glu1935=)
c.5517G= (p.Glu1839=)
c.3045G= (p.Glu1015=)
19g.35732630G>TCA405425595KMT2Bn.387G>T
c.6015G>T (p.Glu2005Asp)
c.3622G>T (n.3622G>T)
c.1299G>T (p.Glu433Asp)
n.1234G>T
c.1302G>T (p.Glu434Asp)
c.5623G>T
c.6081G>T (p.Glu2027Asp)
c.704+301G>T (n.704+301G>T)
c.3403G>T
c.5805G>T (p.Glu1935Asp)
c.5517G>T (p.Glu1839Asp)
c.3045G>T (p.Glu1015Asp)
19g.35732631T>ACA405425601KMT2Bn.388T>A
c.6016T>A (p.Ser2006Thr)
c.3623T>A (n.3623T>A)
c.1300T>A (p.Ser434Thr)
n.1235T>A
c.1303T>A (p.Ser435Thr)
c.5624T>A
c.6082T>A (p.Ser2028Thr)
c.704+302T>A (n.704+302T>A)
c.3404T>A
c.5806T>A (p.Ser1936Thr)
c.5518T>A (p.Ser1840Thr)
c.3046T>A (p.Ser1016Thr)
19g.35732631T>CCA405425598KMT2Bn.388T>C
c.6016T>C (p.Ser2006Pro)
c.3623T>C (n.3623T>C)
c.1300T>C (p.Ser434Pro)
n.1235T>C
c.1303T>C (p.Ser435Pro)
c.5624T>C
c.6082T>C (p.Ser2028Pro)
c.704+302T>C (n.704+302T>C)
c.3404T>C
c.5806T>C (p.Ser1936Pro)
c.5518T>C (p.Ser1840Pro)
c.3046T>C (p.Ser1016Pro)
19g.35732631T>GCA405425597KMT2Bn.388T>G
c.6016T>G (p.Ser2006Ala)
c.3623T>G (n.3623T>G)
c.1300T>G (p.Ser434Ala)
n.1235T>G
c.1303T>G (p.Ser435Ala)
c.5624T>G
c.6082T>G (p.Ser2028Ala)
c.704+302T>G (n.704+302T>G)
c.3404T>G
c.5806T>G (p.Ser1936Ala)
c.5518T>G (p.Ser1840Ala)
c.3046T>G (p.Ser1016Ala)
19g.35732632C>ACA405425604KMT2Bn.389C>A
c.6017C>A (p.Ser2006Tyr)
c.3624C>A (n.3624C>A)
c.1301C>A (p.Ser434Tyr)
n.1236C>A
c.1304C>A (p.Ser435Tyr)
c.5625C>A
c.6083C>A (p.Ser2028Tyr)
c.704+303C>A (n.704+303C>A)
c.3405C>A
c.5807C>A (p.Ser1936Tyr)
c.5519C>A (p.Ser1840Tyr)
c.3047C>A (p.Ser1016Tyr)
gnomAD v4
19g.35732632C=CA2333794410KMT2Bn.389C=
c.6017C= (p.Ser2006=)
c.3624C= (n.3624C=)
c.1301C= (p.Ser434=)
n.1236C=
c.1304C= (p.Ser435=)
c.5625C=
c.6083C= (p.Ser2028=)
c.704+303C= (n.704+303C=)
c.3405C=
c.5807C= (p.Ser1936=)
c.5519C= (p.Ser1840=)
c.3047C= (p.Ser1016=)
19g.35732632C>GCA405425606KMT2Bn.389C>G
c.6017C>G (p.Ser2006Cys)
c.3624C>G (n.3624C>G)
c.1301C>G (p.Ser434Cys)
n.1236C>G
c.1304C>G (p.Ser435Cys)
c.5625C>G
c.6083C>G (p.Ser2028Cys)
c.704+303C>G (n.704+303C>G)
c.3405C>G
c.5807C>G (p.Ser1936Cys)
c.5519C>G (p.Ser1840Cys)
c.3047C>G (p.Ser1016Cys)
gnomAD v4
19g.35732632C>TCA405425609KMT2Bn.389C>T
c.6017C>T (p.Ser2006Phe)
c.3624C>T (n.3624C>T)
c.1301C>T (p.Ser434Phe)
n.1236C>T
c.1304C>T (p.Ser435Phe)
c.5625C>T
c.6083C>T (p.Ser2028Phe)
c.704+303C>T (n.704+303C>T)
c.3405C>T
c.5807C>T (p.Ser1936Phe)
c.5519C>T (p.Ser1840Phe)
c.3047C>T (p.Ser1016Phe)
dbSNP gnomAD v2 COSMIC
19g.35732633C>ACA507308379KMT2Bn.390C>A
c.6018C>A (p.Ser2006=)
c.3625C>A (n.3625C>A)
c.1302C>A (p.Ser434=)
n.1237C>A
c.1305C>A (p.Ser435=)
c.5626C>A
c.6084C>A (p.Ser2028=)
c.704+304C>A (n.704+304C>A)
c.3406C>A
c.5808C>A (p.Ser1936=)
c.5520C>A (p.Ser1840=)
c.3048C>A (p.Ser1016=)
19g.35732633C=CA2333794411KMT2Bn.390C=
c.6018C= (p.Ser2006=)
c.3625C= (n.3625C=)
c.1302C= (p.Ser434=)
n.1237C=
c.1305C= (p.Ser435=)
c.5626C=
c.6084C= (p.Ser2028=)
c.704+304C= (n.704+304C=)
c.3406C=
c.5808C= (p.Ser1936=)
c.5520C= (p.Ser1840=)
c.3048C= (p.Ser1016=)
19g.35732633C>GCA507308380KMT2Bn.390C>G
c.6018C>G (p.Ser2006=)
c.3625C>G (n.3625C>G)
c.1302C>G (p.Ser434=)
n.1237C>G
c.1305C>G (p.Ser435=)
c.5626C>G
c.6084C>G (p.Ser2028=)
c.704+304C>G (n.704+304C>G)
c.3406C>G
c.5808C>G (p.Ser1936=)
c.5520C>G (p.Ser1840=)
c.3048C>G (p.Ser1016=)
19g.35732633C>TCA507308383KMT2Bn.390C>T
c.6018C>T (p.Ser2006=)
c.3625C>T (n.3625C>T)
c.1302C>T (p.Ser434=)
n.1237C>T
c.1305C>T (p.Ser435=)
c.5626C>T
c.6084C>T (p.Ser2028=)
c.704+304C>T (n.704+304C>T)
c.3406C>T
c.5808C>T (p.Ser1936=)
c.5520C>T (p.Ser1840=)
c.3048C>T (p.Ser1016=)
dbSNP gnomAD v2 gnomAD v4
19g.35732634A=CA2333794412KMT2Bn.391A=
c.6019A= (p.Ser2007=)
c.3626A= (n.3626A=)
c.1303A= (p.Ser435=)
n.1238A=
c.1306A= (p.Ser436=)
c.5627A=
c.6085A= (p.Ser2029=)
c.704+305A= (n.704+305A=)
c.3407A=
c.5809A= (p.Ser1937=)
c.5521A= (p.Ser1841=)
c.3049A= (p.Ser1017=)
19g.35732634A>CCA405425612KMT2Bn.391A>C
c.6019A>C (p.Ser2007Arg)
c.3626A>C (n.3626A>C)
c.1303A>C (p.Ser435Arg)
n.1238A>C
c.1306A>C (p.Ser436Arg)
c.5627A>C
c.6085A>C (p.Ser2029Arg)
c.704+305A>C (n.704+305A>C)
c.3407A>C
c.5809A>C (p.Ser1937Arg)
c.5521A>C (p.Ser1841Arg)
c.3049A>C (p.Ser1017Arg)
gnomAD v4
19g.35732634A>GCA405425615KMT2Bn.391A>G
c.6019A>G (p.Ser2007Gly)
c.3626A>G (n.3626A>G)
c.1303A>G (p.Ser435Gly)
n.1238A>G
c.1306A>G (p.Ser436Gly)
c.5627A>G
c.6085A>G (p.Ser2029Gly)
c.704+305A>G (n.704+305A>G)
c.3407A>G
c.5809A>G (p.Ser1937Gly)
c.5521A>G (p.Ser1841Gly)
c.3049A>G (p.Ser1017Gly)
ClinVar dbSNP gnomAD v4
19g.35732634A>TCA405425617KMT2Bn.391A>T
c.6019A>T (p.Ser2007Cys)
c.3626A>T (n.3626A>T)
c.1303A>T (p.Ser435Cys)
n.1238A>T
c.1306A>T (p.Ser436Cys)
c.5627A>T
c.6085A>T (p.Ser2029Cys)
c.704+305A>T (n.704+305A>T)
c.3407A>T
c.5809A>T (p.Ser1937Cys)
c.5521A>T (p.Ser1841Cys)
c.3049A>T (p.Ser1017Cys)
19g.35732635G>ACA405425624KMT2Bn.392G>A
c.6020G>A (p.Ser2007Asn)
c.3627G>A (n.3627G>A)
c.1304G>A (p.Ser435Asn)
n.1239G>A
c.1307G>A (p.Ser436Asn)
c.5628G>A
c.6086G>A (p.Ser2029Asn)
c.704+306G>A (n.704+306G>A)
c.3408G>A
c.5810G>A (p.Ser1937Asn)
c.5522G>A (p.Ser1841Asn)
c.3050G>A (p.Ser1017Asn)
19g.35732635G>CCA405425620KMT2Bn.392G>C
c.6020G>C (p.Ser2007Thr)
c.3627G>C (n.3627G>C)
c.1304G>C (p.Ser435Thr)
n.1239G>C
c.1307G>C (p.Ser436Thr)
c.5628G>C
c.6086G>C (p.Ser2029Thr)
c.704+306G>C (n.704+306G>C)
c.3408G>C
c.5810G>C (p.Ser1937Thr)
c.5522G>C (p.Ser1841Thr)
c.3050G>C (p.Ser1017Thr)
19g.35732635G>TCA405425622KMT2Bn.392G>T
c.6020G>T (p.Ser2007Ile)
c.3627G>T (n.3627G>T)
c.1304G>T (p.Ser435Ile)
n.1239G>T
c.1307G>T (p.Ser436Ile)
c.5628G>T
c.6086G>T (p.Ser2029Ile)
c.704+306G>T (n.704+306G>T)
c.3408G>T
c.5810G>T (p.Ser1937Ile)
c.5522G>T (p.Ser1841Ile)
c.3050G>T (p.Ser1017Ile)
19g.35732636C>ACA405425627KMT2Bn.393C>A
c.6021C>A (p.Ser2007Arg)
c.3628C>A (n.3628C>A)
c.1305C>A (p.Ser435Arg)
n.1240C>A
c.1308C>A (p.Ser436Arg)
c.5629C>A
c.6087C>A (p.Ser2029Arg)
c.704+307C>A (n.704+307C>A)
c.3409C>A
c.5811C>A (p.Ser1937Arg)
c.5523C>A (p.Ser1841Arg)
c.3051C>A (p.Ser1017Arg)
dbSNP gnomAD v2
19g.35732636C=CA2333794413KMT2Bn.393C=
c.6021C= (p.Ser2007=)
c.3628C= (n.3628C=)
c.1305C= (p.Ser435=)
n.1240C=
c.1308C= (p.Ser436=)
c.5629C=
c.6087C= (p.Ser2029=)
c.704+307C= (n.704+307C=)
c.3409C=
c.5811C= (p.Ser1937=)
c.5523C= (p.Ser1841=)
c.3051C= (p.Ser1017=)
19g.35732636C>GCA405425629KMT2Bn.393C>G
c.6021C>G (p.Ser2007Arg)
c.3628C>G (n.3628C>G)
c.1305C>G (p.Ser435Arg)
n.1240C>G
c.1308C>G (p.Ser436Arg)
c.5629C>G
c.6087C>G (p.Ser2029Arg)
c.704+307C>G (n.704+307C>G)
c.3409C>G
c.5811C>G (p.Ser1937Arg)
c.5523C>G (p.Ser1841Arg)
c.3051C>G (p.Ser1017Arg)
19g.35732636C>TCA9385602KMT2Bn.393C>T
c.6021C>T (p.Ser2007=)
c.3628C>T (n.3628C>T)
c.1305C>T (p.Ser435=)
n.1240C>T
c.1308C>T (p.Ser436=)
c.5629C>T
c.6087C>T (p.Ser2029=)
c.704+307C>T (n.704+307C>T)
c.3409C>T
c.5811C>T (p.Ser1937=)
c.5523C>T (p.Ser1841=)
c.3051C>T (p.Ser1017=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35732639dupCA2695228599KMT2Bn.396dup
c.6024dup (p.Thr2009HisfsTer29)
c.3631dup (n.3631dup)
c.1308dup (p.Thr437HisfsTer29)
n.1243dup
c.1311dup (p.Thr438HisfsTer29)
c.5632dup
c.6090dup (p.Thr2031HisfsTer29)
c.704+310dup (n.704+310dup)
c.3412dup
c.5814dup (p.Thr1939HisfsTer29)
c.5526dup (p.Thr1843HisfsTer29)
c.3054dup (p.Thr1019HisfsTer29)
19g.35732637C>ACA405425634KMT2Bn.394C>A
c.6022C>A (p.Pro2008Thr)
c.3629C>A (n.3629C>A)
c.1306C>A (p.Pro436Thr)
n.1241C>A
c.1309C>A (p.Pro437Thr)
c.5630C>A
c.6088C>A (p.Pro2030Thr)
c.704+308C>A (n.704+308C>A)
c.3410C>A
c.5812C>A (p.Pro1938Thr)
c.5524C>A (p.Pro1842Thr)
c.3052C>A (p.Pro1018Thr)
19g.35732637C=CA2333794414KMT2Bn.394C=
c.6022C= (p.Pro2008=)
c.3629C= (n.3629C=)
c.1306C= (p.Pro436=)
n.1241C=
c.1309C= (p.Pro437=)
c.5630C=
c.6088C= (p.Pro2030=)
c.704+308C= (n.704+308C=)
c.3410C=
c.5812C= (p.Pro1938=)
c.5524C= (p.Pro1842=)
c.3052C= (p.Pro1018=)
19g.35732637C>GCA405425636KMT2Bn.394C>G
c.6022C>G (p.Pro2008Ala)
c.3629C>G (n.3629C>G)
c.1306C>G (p.Pro436Ala)
n.1241C>G
c.1309C>G (p.Pro437Ala)
c.5630C>G
c.6088C>G (p.Pro2030Ala)
c.704+308C>G (n.704+308C>G)
c.3410C>G
c.5812C>G (p.Pro1938Ala)
c.5524C>G (p.Pro1842Ala)
c.3052C>G (p.Pro1018Ala)
19g.35732637C>TCA307796240KMT2Bn.394C>T
c.6022C>T (p.Pro2008Ser)
c.3629C>T (n.3629C>T)
c.1306C>T (p.Pro436Ser)
n.1241C>T
c.1309C>T (p.Pro437Ser)
c.5630C>T
c.6088C>T (p.Pro2030Ser)
c.704+308C>T (n.704+308C>T)
c.3410C>T
c.5812C>T (p.Pro1938Ser)
c.5524C>T (p.Pro1842Ser)
c.3052C>T (p.Pro1018Ser)
dbSNP gnomAD v2 gnomAD v4
19g.35732638C>ACA405425639KMT2Bn.395C>A
c.6023C>A (p.Pro2008His)
c.3630C>A (n.3630C>A)
c.1307C>A (p.Pro436His)
n.1242C>A
c.1310C>A (p.Pro437His)
c.5631C>A
c.6089C>A (p.Pro2030His)
c.704+309C>A (n.704+309C>A)
c.3411C>A
c.5813C>A (p.Pro1938His)
c.5525C>A (p.Pro1842His)
c.3053C>A (p.Pro1018His)
19g.35732638C>GCA405425640KMT2Bn.395C>G
c.6023C>G (p.Pro2008Arg)
c.3630C>G (n.3630C>G)
c.1307C>G (p.Pro436Arg)
n.1242C>G
c.1310C>G (p.Pro437Arg)
c.5631C>G
c.6089C>G (p.Pro2030Arg)
c.704+309C>G (n.704+309C>G)
c.3411C>G
c.5813C>G (p.Pro1938Arg)
c.5525C>G (p.Pro1842Arg)
c.3053C>G (p.Pro1018Arg)
19g.35732638C>TCA405425642KMT2Bn.395C>T
c.6023C>T (p.Pro2008Leu)
c.3630C>T (n.3630C>T)
c.1307C>T (p.Pro436Leu)
n.1242C>T
c.1310C>T (p.Pro437Leu)
c.5631C>T
c.6089C>T (p.Pro2030Leu)
c.704+309C>T (n.704+309C>T)
c.3411C>T
c.5813C>T (p.Pro1938Leu)
c.5525C>T (p.Pro1842Leu)
c.3053C>T (p.Pro1018Leu)
19g.35732639C>ACA507308392KMT2Bn.396C>A
c.6024C>A (p.Pro2008=)
c.3631C>A (n.3631C>A)
c.1308C>A (p.Pro436=)
n.1243C>A
c.1311C>A (p.Pro437=)
c.5632C>A
c.6090C>A (p.Pro2030=)
c.704+310C>A (n.704+310C>A)
c.3412C>A
c.5814C>A (p.Pro1938=)
c.5526C>A (p.Pro1842=)
c.3054C>A (p.Pro1018=)
19g.35732639C=CA2333794415KMT2Bn.396C=
c.6024C= (p.Pro2008=)
c.3631C= (n.3631C=)
c.1308C= (p.Pro436=)
n.1243C=
c.1311C= (p.Pro437=)
c.5632C=
c.6090C= (p.Pro2030=)
c.704+310C= (n.704+310C=)
c.3412C=
c.5814C= (p.Pro1938=)
c.5526C= (p.Pro1842=)
c.3054C= (p.Pro1018=)
19g.35732639C>GCA507308391KMT2Bn.396C>G
c.6024C>G (p.Pro2008=)
c.3631C>G (n.3631C>G)
c.1308C>G (p.Pro436=)
n.1243C>G
c.1311C>G (p.Pro437=)
c.5632C>G
c.6090C>G (p.Pro2030=)
c.704+310C>G (n.704+310C>G)
c.3412C>G
c.5814C>G (p.Pro1938=)
c.5526C>G (p.Pro1842=)
c.3054C>G (p.Pro1018=)
19g.35732639C>TCA507308389KMT2Bn.396C>T
c.6024C>T (p.Pro2008=)
c.3631C>T (n.3631C>T)
c.1308C>T (p.Pro436=)
n.1243C>T
c.1311C>T (p.Pro437=)
c.5632C>T
c.6090C>T (p.Pro2030=)
c.704+310C>T (n.704+310C>T)
c.3412C>T
c.5814C>T (p.Pro1938=)
c.5526C>T (p.Pro1842=)
c.3054C>T (p.Pro1018=)
dbSNP gnomAD v4
19g.35732640A=CA2333794416KMT2Bn.397A=
c.6025A= (p.Thr2009=)
c.3632A= (n.3632A=)
c.1309A= (p.Thr437=)
n.1244A=
c.1312A= (p.Thr438=)
c.5633A=
c.6091A= (p.Thr2031=)
c.704+311A= (n.704+311A=)
c.3413A=
c.5815A= (p.Thr1939=)
c.5527A= (p.Thr1843=)
c.3055A= (p.Thr1019=)
19g.35732640A>CCA9385603KMT2Bn.397A>C
c.6025A>C (p.Thr2009Pro)
c.3632A>C (n.3632A>C)
c.1309A>C (p.Thr437Pro)
n.1244A>C
c.1312A>C (p.Thr438Pro)
c.5633A>C
c.6091A>C (p.Thr2031Pro)
c.704+311A>C (n.704+311A>C)
c.3413A>C
c.5815A>C (p.Thr1939Pro)
c.5527A>C (p.Thr1843Pro)
c.3055A>C (p.Thr1019Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732640A>GCA307796251KMT2Bn.397A>G
c.6025A>G (p.Thr2009Ala)
c.3632A>G (n.3632A>G)
c.1309A>G (p.Thr437Ala)
n.1244A>G
c.1312A>G (p.Thr438Ala)
c.5633A>G
c.6091A>G (p.Thr2031Ala)
c.704+311A>G (n.704+311A>G)
c.3413A>G
c.5815A>G (p.Thr1939Ala)
c.5527A>G (p.Thr1843Ala)
c.3055A>G (p.Thr1019Ala)
dbSNP gnomAD v3 gnomAD v4
19g.35732640A>TCA405425648KMT2Bn.397A>T
c.6025A>T (p.Thr2009Ser)
c.3632A>T (n.3632A>T)
c.1309A>T (p.Thr437Ser)
n.1244A>T
c.1312A>T (p.Thr438Ser)
c.5633A>T
c.6091A>T (p.Thr2031Ser)
c.704+311A>T (n.704+311A>T)
c.3413A>T
c.5815A>T (p.Thr1939Ser)
c.5527A>T (p.Thr1843Ser)
c.3055A>T (p.Thr1019Ser)
19g.35732641C>ACA405425651KMT2Bn.398C>A
c.6026C>A (p.Thr2009Asn)
c.3633C>A (n.3633C>A)
c.1310C>A (p.Thr437Asn)
n.1245C>A
c.1313C>A (p.Thr438Asn)
c.5634C>A
c.6092C>A (p.Thr2031Asn)
c.704+312C>A (n.704+312C>A)
c.3414C>A
c.5816C>A (p.Thr1939Asn)
c.5528C>A (p.Thr1843Asn)
c.3056C>A (p.Thr1019Asn)
19g.35732641C=CA2333794417KMT2Bn.398C=
c.6026C= (p.Thr2009=)
c.3633C= (n.3633C=)
c.1310C= (p.Thr437=)
n.1245C=
c.1313C= (p.Thr438=)
c.5634C=
c.6092C= (p.Thr2031=)
c.704+312C= (n.704+312C=)
c.3414C=
c.5816C= (p.Thr1939=)
c.5528C= (p.Thr1843=)
c.3056C= (p.Thr1019=)
19g.35732641C>GCA405425654KMT2Bn.398C>G
c.6026C>G (p.Thr2009Ser)
c.3633C>G (n.3633C>G)
c.1310C>G (p.Thr437Ser)
n.1245C>G
c.1313C>G (p.Thr438Ser)
c.5634C>G
c.6092C>G (p.Thr2031Ser)
c.704+312C>G (n.704+312C>G)
c.3414C>G
c.5816C>G (p.Thr1939Ser)
c.5528C>G (p.Thr1843Ser)
c.3056C>G (p.Thr1019Ser)
19g.35732641C>TCA405425653KMT2Bn.398C>T
c.6026C>T (p.Thr2009Ile)
c.3633C>T (n.3633C>T)
c.1310C>T (p.Thr437Ile)
n.1245C>T
c.1313C>T (p.Thr438Ile)
c.5634C>T
c.6092C>T (p.Thr2031Ile)
c.704+312C>T (n.704+312C>T)
c.3414C>T
c.5816C>T (p.Thr1939Ile)
c.5528C>T (p.Thr1843Ile)
c.3056C>T (p.Thr1019Ile)
dbSNP gnomAD v2 gnomAD v4
19g.35732642C>ACA507308399KMT2Bn.399C>A
c.6027C>A (p.Thr2009=)
c.3634C>A (n.3634C>A)
c.1311C>A (p.Thr437=)
n.1246C>A
c.1314C>A (p.Thr438=)
c.5635C>A
c.6093C>A (p.Thr2031=)
c.704+313C>A (n.704+313C>A)
c.3415C>A
c.5817C>A (p.Thr1939=)
c.5529C>A (p.Thr1843=)
c.3057C>A (p.Thr1019=)
19g.35732642C=CA2333794418KMT2Bn.399C=
c.6027C= (p.Thr2009=)
c.3634C= (n.3634C=)
c.1311C= (p.Thr437=)
n.1246C=
c.1314C= (p.Thr438=)
c.5635C=
c.6093C= (p.Thr2031=)
c.704+313C= (n.704+313C=)
c.3415C=
c.5817C= (p.Thr1939=)
c.5529C= (p.Thr1843=)
c.3057C= (p.Thr1019=)
19g.35732642C>GCA507308400KMT2Bn.399C>G
c.6027C>G (p.Thr2009=)
c.3634C>G (n.3634C>G)
c.1311C>G (p.Thr437=)
n.1246C>G
c.1314C>G (p.Thr438=)
c.5635C>G
c.6093C>G (p.Thr2031=)
c.704+313C>G (n.704+313C>G)
c.3415C>G
c.5817C>G (p.Thr1939=)
c.5529C>G (p.Thr1843=)
c.3057C>G (p.Thr1019=)
19g.35732642C>TCA9385604KMT2Bn.399C>T
c.6027C>T (p.Thr2009=)
c.3634C>T (n.3634C>T)
c.1311C>T (p.Thr437=)
n.1246C>T
c.1314C>T (p.Thr438=)
c.5635C>T
c.6093C>T (p.Thr2031=)
c.704+313C>T (n.704+313C>T)
c.3415C>T
c.5817C>T (p.Thr1939=)
c.5529C>T (p.Thr1843=)
c.3057C>T (p.Thr1019=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35732643T>ACA405425659KMT2Bn.400T>A
c.6028T>A (p.Ser2010Thr)
c.3635T>A (n.3635T>A)
c.1312T>A (p.Ser438Thr)
n.1247T>A
c.1315T>A (p.Ser439Thr)
c.5636T>A
c.6094T>A (p.Ser2032Thr)
c.704+314T>A (n.704+314T>A)
c.3416T>A
c.5818T>A (p.Ser1940Thr)
c.5530T>A (p.Ser1844Thr)
c.3058T>A (p.Ser1020Thr)
19g.35732643T>CCA405425661KMT2Bn.400T>C
c.6028T>C (p.Ser2010Pro)
c.3635T>C (n.3635T>C)
c.1312T>C (p.Ser438Pro)
n.1247T>C
c.1315T>C (p.Ser439Pro)
c.5636T>C
c.6094T>C (p.Ser2032Pro)
c.704+314T>C (n.704+314T>C)
c.3416T>C
c.5818T>C (p.Ser1940Pro)
c.5530T>C (p.Ser1844Pro)
c.3058T>C (p.Ser1020Pro)
19g.35732643T>GCA405425663KMT2Bn.400T>G
c.6028T>G (p.Ser2010Ala)
c.3635T>G (n.3635T>G)
c.1312T>G (p.Ser438Ala)
n.1247T>G
c.1315T>G (p.Ser439Ala)
c.5636T>G
c.6094T>G (p.Ser2032Ala)
c.704+314T>G (n.704+314T>G)
c.3416T>G
c.5818T>G (p.Ser1940Ala)
c.5530T>G (p.Ser1844Ala)
c.3058T>G (p.Ser1020Ala)
gnomAD v4
19g.35732644C>ACA405425667KMT2Bn.401C>A
c.6029C>A (p.Ser2010Tyr)
c.3636C>A (n.3636C>A)
c.1313C>A (p.Ser438Tyr)
n.1248C>A
c.1316C>A (p.Ser439Tyr)
c.5637C>A
c.6095C>A (p.Ser2032Tyr)
c.704+315C>A (n.704+315C>A)
c.3417C>A
c.5819C>A (p.Ser1940Tyr)
c.5531C>A (p.Ser1844Tyr)
c.3059C>A (p.Ser1020Tyr)
19g.35732644C=CA2333794419KMT2Bn.401C=
c.6029C= (p.Ser2010=)
c.3636C= (n.3636C=)
c.1313C= (p.Ser438=)
n.1248C=
c.1316C= (p.Ser439=)
c.5637C=
c.6095C= (p.Ser2032=)
c.704+315C= (n.704+315C=)
c.3417C=
c.5819C= (p.Ser1940=)
c.5531C= (p.Ser1844=)
c.3059C= (p.Ser1020=)
19g.35732644C>GCA405425669KMT2Bn.401C>G
c.6029C>G (p.Ser2010Cys)
c.3636C>G (n.3636C>G)
c.1313C>G (p.Ser438Cys)
n.1248C>G
c.1316C>G (p.Ser439Cys)
c.5637C>G
c.6095C>G (p.Ser2032Cys)
c.704+315C>G (n.704+315C>G)
c.3417C>G
c.5819C>G (p.Ser1940Cys)
c.5531C>G (p.Ser1844Cys)
c.3059C>G (p.Ser1020Cys)
gnomAD v4
19g.35732644C>TCA9385605KMT2Bn.401C>T
c.6029C>T (p.Ser2010Phe)
c.3636C>T (n.3636C>T)
c.1313C>T (p.Ser438Phe)
n.1248C>T
c.1316C>T (p.Ser439Phe)
c.5637C>T
c.6095C>T (p.Ser2032Phe)
c.704+315C>T (n.704+315C>T)
c.3417C>T
c.5819C>T (p.Ser1940Phe)
c.5531C>T (p.Ser1844Phe)
c.3059C>T (p.Ser1020Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732645C>ACA507308407KMT2Bn.402C>A
c.6030C>A (p.Ser2010=)
c.3637C>A (n.3637C>A)
c.1314C>A (p.Ser438=)
n.1249C>A
c.1317C>A (p.Ser439=)
c.5638C>A
c.6096C>A (p.Ser2032=)
c.704+316C>A (n.704+316C>A)
c.3418C>A
c.5820C>A (p.Ser1940=)
c.5532C>A (p.Ser1844=)
c.3060C>A (p.Ser1020=)
19g.35732645C>GCA507308408KMT2Bn.402C>G
c.6030C>G (p.Ser2010=)
c.3637C>G (n.3637C>G)
c.1314C>G (p.Ser438=)
n.1249C>G
c.1317C>G (p.Ser439=)
c.5638C>G
c.6096C>G (p.Ser2032=)
c.704+316C>G (n.704+316C>G)
c.3418C>G
c.5820C>G (p.Ser1940=)
c.5532C>G (p.Ser1844=)
c.3060C>G (p.Ser1020=)
19g.35732645C>TCA507308410KMT2Bn.402C>T
c.6030C>T (p.Ser2010=)
c.3637C>T (n.3637C>T)
c.1314C>T (p.Ser438=)
n.1249C>T
c.1317C>T (p.Ser439=)
c.5638C>T
c.6096C>T (p.Ser2032=)
c.704+316C>T (n.704+316C>T)
c.3418C>T
c.5820C>T (p.Ser1940=)
c.5532C>T (p.Ser1844=)
c.3060C>T (p.Ser1020=)
gnomAD v4 COSMIC
19g.35732646C>ACA405425673KMT2Bn.403C>A
c.6031C>A (p.Arg2011Ser)
c.3638C>A (n.3638C>A)
c.1315C>A (p.Arg439Ser)
n.1250C>A
c.1318C>A (p.Arg440Ser)
c.5639C>A
c.6097C>A (p.Arg2033Ser)
c.704+317C>A (n.704+317C>A)
c.3419C>A
c.5821C>A (p.Arg1941Ser)
c.5533C>A (p.Arg1845Ser)
c.3061C>A (p.Arg1021Ser)
gnomAD v4
19g.35732646C=CA2333794420KMT2Bn.403C=
c.6031C= (p.Arg2011=)
c.3638C= (n.3638C=)
c.1315C= (p.Arg439=)
n.1250C=
c.1318C= (p.Arg440=)
c.5639C=
c.6097C= (p.Arg2033=)
c.704+317C= (n.704+317C=)
c.3419C=
c.5821C= (p.Arg1941=)
c.5533C= (p.Arg1845=)
c.3061C= (p.Arg1021=)
19g.35732646C>GCA405425675KMT2Bn.403C>G
c.6031C>G (p.Arg2011Gly)
c.3638C>G (n.3638C>G)
c.1315C>G (p.Arg439Gly)
n.1250C>G
c.1318C>G (p.Arg440Gly)
c.5639C>G
c.6097C>G (p.Arg2033Gly)
c.704+317C>G (n.704+317C>G)
c.3419C>G
c.5821C>G (p.Arg1941Gly)
c.5533C>G (p.Arg1845Gly)
c.3061C>G (p.Arg1021Gly)
dbSNP gnomAD v3 gnomAD v4
19g.35732646C>TCA9385606KMT2Bn.403C>T
c.6031C>T (p.Arg2011Cys)
c.3638C>T (n.3638C>T)
c.1315C>T (p.Arg439Cys)
n.1250C>T
c.1318C>T (p.Arg440Cys)
c.5639C>T
c.6097C>T (p.Arg2033Cys)
c.704+317C>T (n.704+317C>T)
c.3419C>T
c.5821C>T (p.Arg1941Cys)
c.5533C>T (p.Arg1845Cys)
c.3061C>T (p.Arg1021Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35732647G>ACA9385607KMT2Bn.404G>A
c.6032G>A (p.Arg2011His)
c.3639G>A (n.3639G>A)
c.1316G>A (p.Arg439His)
n.1251G>A
c.1319G>A (p.Arg440His)
c.5640G>A
c.6098G>A (p.Arg2033His)
c.704+318G>A (n.704+318G>A)
c.3420G>A
c.5822G>A (p.Arg1941His)
c.5534G>A (p.Arg1845His)
c.3062G>A (p.Arg1021His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732647G>CCA405425680KMT2Bn.404G>C
c.6032G>C (p.Arg2011Pro)
c.3639G>C (n.3639G>C)
c.1316G>C (p.Arg439Pro)
n.1251G>C
c.1319G>C (p.Arg440Pro)
c.5640G>C
c.6098G>C (p.Arg2033Pro)
c.704+318G>C (n.704+318G>C)
c.3420G>C
c.5822G>C (p.Arg1941Pro)
c.5534G>C (p.Arg1845Pro)
c.3062G>C (p.Arg1021Pro)
19g.35732647G=CA2333794421KMT2Bn.404G=
c.6032G= (p.Arg2011=)
c.3639G= (n.3639G=)
c.1316G= (p.Arg439=)
n.1251G=
c.1319G= (p.Arg440=)
c.5640G=
c.6098G= (p.Arg2033=)
c.704+318G= (n.704+318G=)
c.3420G=
c.5822G= (p.Arg1941=)
c.5534G= (p.Arg1845=)
c.3062G= (p.Arg1021=)
19g.35732647G>TCA405425681KMT2Bn.404G>T
c.6032G>T (p.Arg2011Leu)
c.3639G>T (n.3639G>T)
c.1316G>T (p.Arg439Leu)
n.1251G>T
c.1319G>T (p.Arg440Leu)
c.5640G>T
c.6098G>T (p.Arg2033Leu)
c.704+318G>T (n.704+318G>T)
c.3420G>T
c.5822G>T (p.Arg1941Leu)
c.5534G>T (p.Arg1845Leu)
c.3062G>T (p.Arg1021Leu)
dbSNP gnomAD v2 gnomAD v4
19g.35732648C>ACA507308418KMT2Bn.405C>A
c.6033C>A (p.Arg2011=)
c.3640C>A (n.3640C>A)
c.1317C>A (p.Arg439=)
n.1252C>A
c.1320C>A (p.Arg440=)
c.5641C>A
c.6099C>A (p.Arg2033=)
c.704+319C>A (n.704+319C>A)
c.3421C>A
c.5823C>A (p.Arg1941=)
c.5535C>A (p.Arg1845=)
c.3063C>A (p.Arg1021=)
19g.35732648C=CA2333794422KMT2Bn.405C=
c.6033C= (p.Arg2011=)
c.3640C= (n.3640C=)
c.1317C= (p.Arg439=)
n.1252C=
c.1320C= (p.Arg440=)
c.5641C=
c.6099C= (p.Arg2033=)
c.704+319C= (n.704+319C=)
c.3421C=
c.5823C= (p.Arg1941=)
c.5535C= (p.Arg1845=)
c.3063C= (p.Arg1021=)
19g.35732648C>GCA507308421KMT2Bn.405C>G
c.6033C>G (p.Arg2011=)
c.3640C>G (n.3640C>G)
c.1317C>G (p.Arg439=)
n.1252C>G
c.1320C>G (p.Arg440=)
c.5641C>G
c.6099C>G (p.Arg2033=)
c.704+319C>G (n.704+319C>G)
c.3421C>G
c.5823C>G (p.Arg1941=)
c.5535C>G (p.Arg1845=)
c.3063C>G (p.Arg1021=)
19g.35732648C>TCA307796268KMT2Bn.405C>T
c.6033C>T (p.Arg2011=)
c.3640C>T (n.3640C>T)
c.1317C>T (p.Arg439=)
n.1252C>T
c.1320C>T (p.Arg440=)
c.5641C>T
c.6099C>T (p.Arg2033=)
c.704+319C>T (n.704+319C>T)
c.3421C>T
c.5823C>T (p.Arg1941=)
c.5535C>T (p.Arg1845=)
c.3063C>T (p.Arg1021=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35732649T>ACA405425682KMT2Bn.406T>A
c.6034T>A (p.Tyr2012Asn)
c.3641T>A (n.3641T>A)
c.1318T>A (p.Tyr440Asn)
n.1253T>A
c.1321T>A (p.Tyr441Asn)
c.5642T>A
c.6100T>A (p.Tyr2034Asn)
c.704+320T>A (n.704+320T>A)
c.3422T>A
c.5824T>A (p.Tyr1942Asn)
c.5536T>A (p.Tyr1846Asn)
c.3064T>A (p.Tyr1022Asn)
19g.35732649T>CCA405425684KMT2Bn.406T>C
c.6034T>C (p.Tyr2012His)
c.3641T>C (n.3641T>C)
c.1318T>C (p.Tyr440His)
n.1253T>C
c.1321T>C (p.Tyr441His)
c.5642T>C
c.6100T>C (p.Tyr2034His)
c.704+320T>C (n.704+320T>C)
c.3422T>C
c.5824T>C (p.Tyr1942His)
c.5536T>C (p.Tyr1846His)
c.3064T>C (p.Tyr1022His)
gnomAD v4
19g.35732649T>GCA405425683KMT2Bn.406T>G
c.6034T>G (p.Tyr2012Asp)
c.3641T>G (n.3641T>G)
c.1318T>G (p.Tyr440Asp)
n.1253T>G
c.1321T>G (p.Tyr441Asp)
c.5642T>G
c.6100T>G (p.Tyr2034Asp)
c.704+320T>G (n.704+320T>G)
c.3422T>G
c.5824T>G (p.Tyr1942Asp)
c.5536T>G (p.Tyr1846Asp)
c.3064T>G (p.Tyr1022Asp)
19g.35732650A>CCA405425685KMT2Bn.407A>C
c.6035A>C (p.Tyr2012Ser)
c.3642A>C (n.3642A>C)
c.1319A>C (p.Tyr440Ser)
n.1254A>C
c.1322A>C (p.Tyr441Ser)
c.5643A>C
c.6101A>C (p.Tyr2034Ser)
c.704+321A>C (n.704+321A>C)
c.3423A>C
c.5825A>C (p.Tyr1942Ser)
c.5537A>C (p.Tyr1846Ser)
c.3065A>C (p.Tyr1022Ser)
19g.35732650A>GCA405425686KMT2Bn.407A>G
c.6035A>G (p.Tyr2012Cys)
c.3642A>G (n.3642A>G)
c.1319A>G (p.Tyr440Cys)
n.1254A>G
c.1322A>G (p.Tyr441Cys)
c.5643A>G
c.6101A>G (p.Tyr2034Cys)
c.704+321A>G (n.704+321A>G)
c.3423A>G
c.5825A>G (p.Tyr1942Cys)
c.5537A>G (p.Tyr1846Cys)
c.3065A>G (p.Tyr1022Cys)
19g.35732650A>TCA405425687KMT2Bn.407A>T
c.6035A>T (p.Tyr2012Phe)
c.3642A>T (n.3642A>T)
c.1319A>T (p.Tyr440Phe)
n.1254A>T
c.1322A>T (p.Tyr441Phe)
c.5643A>T
c.6101A>T (p.Tyr2034Phe)
c.704+321A>T (n.704+321A>T)
c.3423A>T
c.5825A>T (p.Tyr1942Phe)
c.5537A>T (p.Tyr1846Phe)
c.3065A>T (p.Tyr1022Phe)
19g.35732651C>ACA405425688KMT2Bn.408C>A
c.6036C>A (p.Tyr2012Ter)
c.3643C>A (n.3643C>A)
c.1320C>A (p.Tyr440Ter)
n.1255C>A
c.1323C>A (p.Tyr441Ter)
c.5644C>A
c.6102C>A (p.Tyr2034Ter)
c.704+322C>A (n.704+322C>A)
c.3424C>A
c.5826C>A (p.Tyr1942Ter)
c.5538C>A (p.Tyr1846Ter)
c.3066C>A (p.Tyr1022Ter)
19g.35732651C=CA2333794423KMT2Bn.408C=
c.6036C= (p.Tyr2012=)
c.3643C= (n.3643C=)
c.1320C= (p.Tyr440=)
n.1255C=
c.1323C= (p.Tyr441=)
c.5644C=
c.6102C= (p.Tyr2034=)
c.704+322C= (n.704+322C=)
c.3424C=
c.5826C= (p.Tyr1942=)
c.5538C= (p.Tyr1846=)
c.3066C= (p.Tyr1022=)
19g.35732651C>GCA405425689KMT2Bn.408C>G
c.6036C>G (p.Tyr2012Ter)
c.3643C>G (n.3643C>G)
c.1320C>G (p.Tyr440Ter)
n.1255C>G
c.1323C>G (p.Tyr441Ter)
c.5644C>G
c.6102C>G (p.Tyr2034Ter)
c.704+322C>G (n.704+322C>G)
c.3424C>G
c.5826C>G (p.Tyr1942Ter)
c.5538C>G (p.Tyr1846Ter)
c.3066C>G (p.Tyr1022Ter)
19g.35732651C>TCA507308431KMT2Bn.408C>T
c.6036C>T (p.Tyr2012=)
c.3643C>T (n.3643C>T)
c.1320C>T (p.Tyr440=)
n.1255C>T
c.1323C>T (p.Tyr441=)
c.5644C>T
c.6102C>T (p.Tyr2034=)
c.704+322C>T (n.704+322C>T)
c.3424C>T
c.5826C>T (p.Tyr1942=)
c.5538C>T (p.Tyr1846=)
c.3066C>T (p.Tyr1022=)
dbSNP gnomAD v3 gnomAD v4
19g.35732652A=CA2333794424KMT2Bn.409A=
c.6037A= (p.Ile2013=)
c.3644A= (n.3644A=)
c.1321A= (p.Ile441=)
n.1256A=
c.1324A= (p.Ile442=)
c.5645A=
c.6103A= (p.Ile2035=)
c.704+323A= (n.704+323A=)
c.3425A=
c.5827A= (p.Ile1943=)
c.5539A= (p.Ile1847=)
c.3067A= (p.Ile1023=)
19g.35732652A>CCA405425690KMT2Bn.409A>C
c.6037A>C (p.Ile2013Leu)
c.3644A>C (n.3644A>C)
c.1321A>C (p.Ile441Leu)
n.1256A>C
c.1324A>C (p.Ile442Leu)
c.5645A>C
c.6103A>C (p.Ile2035Leu)
c.704+323A>C (n.704+323A>C)
c.3425A>C
c.5827A>C (p.Ile1943Leu)
c.5539A>C (p.Ile1847Leu)
c.3067A>C (p.Ile1023Leu)
19g.35732652A>GCA9385608KMT2Bn.409A>G
c.6037A>G (p.Ile2013Val)
c.3644A>G (n.3644A>G)
c.1321A>G (p.Ile441Val)
n.1256A>G
c.1324A>G (p.Ile442Val)
c.5645A>G
c.6103A>G (p.Ile2035Val)
c.704+323A>G (n.704+323A>G)
c.3425A>G
c.5827A>G (p.Ile1943Val)
c.5539A>G (p.Ile1847Val)
c.3067A>G (p.Ile1023Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732652A>TCA405425691KMT2Bn.409A>T
c.6037A>T (p.Ile2013Phe)
c.3644A>T (n.3644A>T)
c.1321A>T (p.Ile441Phe)
n.1256A>T
c.1324A>T (p.Ile442Phe)
c.5645A>T
c.6103A>T (p.Ile2035Phe)
c.704+323A>T (n.704+323A>T)
c.3425A>T
c.5827A>T (p.Ile1943Phe)
c.5539A>T (p.Ile1847Phe)
c.3067A>T (p.Ile1023Phe)
19g.35732653T>ACA405425692KMT2Bn.410T>A
c.6038T>A (p.Ile2013Asn)
c.3645T>A (n.3645T>A)
c.1322T>A (p.Ile441Asn)
n.1257T>A
c.1325T>A (p.Ile442Asn)
c.5646T>A
c.6104T>A (p.Ile2035Asn)
c.704+324T>A (n.704+324T>A)
c.3426T>A
c.5828T>A (p.Ile1943Asn)
c.5540T>A (p.Ile1847Asn)
c.3068T>A (p.Ile1023Asn)
19g.35732653T>CCA405425693KMT2Bn.410T>C
c.6038T>C (p.Ile2013Thr)
c.3645T>C (n.3645T>C)
c.1322T>C (p.Ile441Thr)
n.1257T>C
c.1325T>C (p.Ile442Thr)
c.5646T>C
c.6104T>C (p.Ile2035Thr)
c.704+324T>C (n.704+324T>C)
c.3426T>C
c.5828T>C (p.Ile1943Thr)
c.5540T>C (p.Ile1847Thr)
c.3068T>C (p.Ile1023Thr)
19g.35732653T>GCA405425694KMT2Bn.410T>G
c.6038T>G (p.Ile2013Ser)
c.3645T>G (n.3645T>G)
c.1322T>G (p.Ile441Ser)
n.1257T>G
c.1325T>G (p.Ile442Ser)
c.5646T>G
c.6104T>G (p.Ile2035Ser)
c.704+324T>G (n.704+324T>G)
c.3426T>G
c.5828T>G (p.Ile1943Ser)
c.5540T>G (p.Ile1847Ser)
c.3068T>G (p.Ile1023Ser)
19g.35732654C>ACA507308439KMT2Bn.411C>A
c.6039C>A (p.Ile2013=)
c.3646C>A (n.3646C>A)
c.1323C>A (p.Ile441=)
n.1258C>A
c.1326C>A (p.Ile442=)
c.5647C>A
c.6105C>A (p.Ile2035=)
c.704+325C>A (n.704+325C>A)
c.3427C>A
c.5829C>A (p.Ile1943=)
c.5541C>A (p.Ile1847=)
c.3069C>A (p.Ile1023=)
19g.35732654C=CA2333794425KMT2Bn.411C=
c.6039C= (p.Ile2013=)
c.3646C= (n.3646C=)
c.1323C= (p.Ile441=)
n.1258C=
c.1326C= (p.Ile442=)
c.5647C=
c.6105C= (p.Ile2035=)
c.704+325C= (n.704+325C=)
c.3427C=
c.5829C= (p.Ile1943=)
c.5541C= (p.Ile1847=)
c.3069C= (p.Ile1023=)
19g.35732654C>GCA405425695KMT2Bn.411C>G
c.6039C>G (p.Ile2013Met)
c.3646C>G (n.3646C>G)
c.1323C>G (p.Ile441Met)
n.1258C>G
c.1326C>G (p.Ile442Met)
c.5647C>G
c.6105C>G (p.Ile2035Met)
c.704+325C>G (n.704+325C>G)
c.3427C>G
c.5829C>G (p.Ile1943Met)
c.5541C>G (p.Ile1847Met)
c.3069C>G (p.Ile1023Met)
19g.35732654C>TCA507308440KMT2Bn.411C>T
c.6039C>T (p.Ile2013=)
c.3646C>T (n.3646C>T)
c.1323C>T (p.Ile441=)
n.1258C>T
c.1326C>T (p.Ile442=)
c.5647C>T
c.6105C>T (p.Ile2035=)
c.704+325C>T (n.704+325C>T)
c.3427C>T
c.5829C>T (p.Ile1943=)
c.5541C>T (p.Ile1847=)
c.3069C>T (p.Ile1023=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35732655C>ACA405425697KMT2Bn.412C>A
c.6040C>A (p.His2014Asn)
c.3647C>A (n.3647C>A)
c.1324C>A (p.His442Asn)
n.1259C>A
c.1327C>A (p.His443Asn)
c.5648C>A
c.6106C>A (p.His2036Asn)
c.704+326C>A (n.704+326C>A)
c.3428C>A
c.5830C>A (p.His1944Asn)
c.5542C>A (p.His1848Asn)
c.3070C>A (p.His1024Asn)
19g.35732655C=CA2333794426KMT2Bn.412C=
c.6040C= (p.His2014=)
c.3647C= (n.3647C=)
c.1324C= (p.His442=)
n.1259C=
c.1327C= (p.His443=)
c.5648C=
c.6106C= (p.His2036=)
c.704+326C= (n.704+326C=)
c.3428C=
c.5830C= (p.His1944=)
c.5542C= (p.His1848=)
c.3070C= (p.His1024=)
19g.35732655C>GCA405425696KMT2Bn.412C>G
c.6040C>G (p.His2014Asp)
c.3647C>G (n.3647C>G)
c.1324C>G (p.His442Asp)
n.1259C>G
c.1327C>G (p.His443Asp)
c.5648C>G
c.6106C>G (p.His2036Asp)
c.704+326C>G (n.704+326C>G)
c.3428C>G
c.5830C>G (p.His1944Asp)
c.5542C>G (p.His1848Asp)
c.3070C>G (p.His1024Asp)
dbSNP
19g.35732655C>TCA405425698KMT2Bn.412C>T
c.6040C>T (p.His2014Tyr)
c.3647C>T (n.3647C>T)
c.1324C>T (p.His442Tyr)
n.1259C>T
c.1327C>T (p.His443Tyr)
c.5648C>T
c.6106C>T (p.His2036Tyr)
c.704+326C>T (n.704+326C>T)
c.3428C>T
c.5830C>T (p.His1944Tyr)
c.5542C>T (p.His1848Tyr)
c.3070C>T (p.His1024Tyr)
gnomAD v4 COSMIC
19g.35732656A=CA2333794427KMT2Bn.413A=
c.6041A= (p.His2014=)
c.3648A= (n.3648A=)
c.1325A= (p.His442=)
n.1260A=
c.1328A= (p.His443=)
c.5649A=
c.6107A= (p.His2036=)
c.704+327A= (n.704+327A=)
c.3429A=
c.5831A= (p.His1944=)
c.5543A= (p.His1848=)
c.3071A= (p.His1024=)
19g.35732656A>CCA405425699KMT2Bn.413A>C
c.6041A>C (p.His2014Pro)
c.3648A>C (n.3648A>C)
c.1325A>C (p.His442Pro)
n.1260A>C
c.1328A>C (p.His443Pro)
c.5649A>C
c.6107A>C (p.His2036Pro)
c.704+327A>C (n.704+327A>C)
c.3429A>C
c.5831A>C (p.His1944Pro)
c.5543A>C (p.His1848Pro)
c.3071A>C (p.His1024Pro)
19g.35732656A>GCA405425700KMT2Bn.413A>G
c.6041A>G (p.His2014Arg)
c.3648A>G (n.3648A>G)
c.1325A>G (p.His442Arg)
n.1260A>G
c.1328A>G (p.His443Arg)
c.5649A>G
c.6107A>G (p.His2036Arg)
c.704+327A>G (n.704+327A>G)
c.3429A>G
c.5831A>G (p.His1944Arg)
c.5543A>G (p.His1848Arg)
c.3071A>G (p.His1024Arg)
dbSNP
19g.35732656A>TCA405425701KMT2Bn.413A>T
c.6041A>T (p.His2014Leu)
c.3648A>T (n.3648A>T)
c.1325A>T (p.His442Leu)
n.1260A>T
c.1328A>T (p.His443Leu)
c.5649A>T
c.6107A>T (p.His2036Leu)
c.704+327A>T (n.704+327A>T)
c.3429A>T
c.5831A>T (p.His1944Leu)
c.5543A>T (p.His1848Leu)
c.3071A>T (p.His1024Leu)
19g.35732657C>ACA405425702KMT2Bn.414C>A
c.6042C>A (p.His2014Gln)
c.3649C>A (n.3649C>A)
c.1326C>A (p.His442Gln)
n.1261C>A
c.1329C>A (p.His443Gln)
c.5650C>A
c.6108C>A (p.His2036Gln)
c.704+328C>A (n.704+328C>A)
c.3430C>A
c.5832C>A (p.His1944Gln)
c.5544C>A (p.His1848Gln)
c.3072C>A (p.His1024Gln)
19g.35732657C=CA2333794428KMT2Bn.414C=
c.6042C= (p.His2014=)
c.3649C= (n.3649C=)
c.1326C= (p.His442=)
n.1261C=
c.1329C= (p.His443=)
c.5650C=
c.6108C= (p.His2036=)
c.704+328C= (n.704+328C=)
c.3430C=
c.5832C= (p.His1944=)
c.5544C= (p.His1848=)
c.3072C= (p.His1024=)
19g.35732657C>GCA405425703KMT2Bn.414C>G
c.6042C>G (p.His2014Gln)
c.3649C>G (n.3649C>G)
c.1326C>G (p.His442Gln)
n.1261C>G
c.1329C>G (p.His443Gln)
c.5650C>G
c.6108C>G (p.His2036Gln)
c.704+328C>G (n.704+328C>G)
c.3430C>G
c.5832C>G (p.His1944Gln)
c.5544C>G (p.His1848Gln)
c.3072C>G (p.His1024Gln)
19g.35732657C>TCA507308450KMT2Bn.414C>T
c.6042C>T (p.His2014=)
c.3649C>T (n.3649C>T)
c.1326C>T (p.His442=)
n.1261C>T
c.1329C>T (p.His443=)
c.5650C>T
c.6108C>T (p.His2036=)
c.704+328C>T (n.704+328C>T)
c.3430C>T
c.5832C>T (p.His1944=)
c.5544C>T (p.His1848=)
c.3072C>T (p.His1024=)
dbSNP gnomAD v2 gnomAD v4
19g.35732658T>ACA405425704KMT2Bn.415T>A
c.6043T>A (p.Phe2015Ile)
c.3650T>A (n.3650T>A)
c.1327T>A (p.Phe443Ile)
n.1262T>A
c.1330T>A (p.Phe444Ile)
c.5651T>A
c.6109T>A (p.Phe2037Ile)
c.704+329T>A (n.704+329T>A)
c.3431T>A
c.5833T>A (p.Phe1945Ile)
c.5545T>A (p.Phe1849Ile)
c.3073T>A (p.Phe1025Ile)
19g.35732658T>CCA405425705KMT2Bn.415T>C
c.6043T>C (p.Phe2015Leu)
c.3650T>C (n.3650T>C)
c.1327T>C (p.Phe443Leu)
n.1262T>C
c.1330T>C (p.Phe444Leu)
c.5651T>C
c.6109T>C (p.Phe2037Leu)
c.704+329T>C (n.704+329T>C)
c.3431T>C
c.5833T>C (p.Phe1945Leu)
c.5545T>C (p.Phe1849Leu)
c.3073T>C (p.Phe1025Leu)
19g.35732658T>GCA405425706KMT2Bn.415T>G
c.6043T>G (p.Phe2015Val)
c.3650T>G (n.3650T>G)
c.1327T>G (p.Phe443Val)
n.1262T>G
c.1330T>G (p.Phe444Val)
c.5651T>G
c.6109T>G (p.Phe2037Val)
c.704+329T>G (n.704+329T>G)
c.3431T>G
c.5833T>G (p.Phe1945Val)
c.5545T>G (p.Phe1849Val)
c.3073T>G (p.Phe1025Val)
19g.35732659T>ACA405425707KMT2Bn.416T>A
c.6044T>A (p.Phe2015Tyr)
c.3651T>A (n.3651T>A)
c.1328T>A (p.Phe443Tyr)
n.1263T>A
c.1331T>A (p.Phe444Tyr)
c.5652T>A
c.6110T>A (p.Phe2037Tyr)
c.704+330T>A (n.704+330T>A)
c.3432T>A
c.5834T>A (p.Phe1945Tyr)
c.5546T>A (p.Phe1849Tyr)
c.3074T>A (p.Phe1025Tyr)
19g.35732659T>CCA405425708KMT2Bn.416T>C
c.6044T>C (p.Phe2015Ser)
c.3651T>C (n.3651T>C)
c.1328T>C (p.Phe443Ser)
n.1263T>C
c.1331T>C (p.Phe444Ser)
c.5652T>C
c.6110T>C (p.Phe2037Ser)
c.704+330T>C (n.704+330T>C)
c.3432T>C
c.5834T>C (p.Phe1945Ser)
c.5546T>C (p.Phe1849Ser)
c.3074T>C (p.Phe1025Ser)
19g.35732659T>GCA405425709KMT2Bn.416T>G
c.6044T>G (p.Phe2015Cys)
c.3651T>G (n.3651T>G)
c.1328T>G (p.Phe443Cys)
n.1263T>G
c.1331T>G (p.Phe444Cys)
c.5652T>G
c.6110T>G (p.Phe2037Cys)
c.704+330T>G (n.704+330T>G)
c.3432T>G
c.5834T>G (p.Phe1945Cys)
c.5546T>G (p.Phe1849Cys)
c.3074T>G (p.Phe1025Cys)
19g.35732660C>ACA405425711KMT2Bn.417C>A
c.6045C>A (p.Phe2015Leu)
c.3652C>A (n.3652C>A)
c.1329C>A (p.Phe443Leu)
n.1264C>A
c.1332C>A (p.Phe444Leu)
c.5653C>A
c.6111C>A (p.Phe2037Leu)
c.704+331C>A (n.704+331C>A)
c.3433C>A
c.5835C>A (p.Phe1945Leu)
c.5547C>A (p.Phe1849Leu)
c.3075C>A (p.Phe1025Leu)
ClinVar
19g.35732660C=CA2333794429KMT2Bn.417C=
c.6045C= (p.Phe2015=)
c.3652C= (n.3652C=)
c.1329C= (p.Phe443=)
n.1264C=
c.1332C= (p.Phe444=)
c.5653C=
c.6111C= (p.Phe2037=)
c.704+331C= (n.704+331C=)
c.3433C=
c.5835C= (p.Phe1945=)
c.5547C= (p.Phe1849=)
c.3075C= (p.Phe1025=)
19g.35732660C>GCA405425710KMT2Bn.417C>G
c.6045C>G (p.Phe2015Leu)
c.3652C>G (n.3652C>G)
c.1329C>G (p.Phe443Leu)
n.1264C>G
c.1332C>G (p.Phe444Leu)
c.5653C>G
c.6111C>G (p.Phe2037Leu)
c.704+331C>G (n.704+331C>G)
c.3433C>G
c.5835C>G (p.Phe1945Leu)
c.5547C>G (p.Phe1849Leu)
c.3075C>G (p.Phe1025Leu)
19g.35732660C>TCA9385609KMT2Bn.417C>T
c.6045C>T (p.Phe2015=)
c.3652C>T (n.3652C>T)
c.1329C>T (p.Phe443=)
n.1264C>T
c.1332C>T (p.Phe444=)
c.5653C>T
c.6111C>T (p.Phe2037=)
c.704+331C>T (n.704+331C>T)
c.3433C>T
c.5835C>T (p.Phe1945=)
c.5547C>T (p.Phe1849=)
c.3075C>T (p.Phe1025=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35732661C>ACA405425712KMT2Bn.418C>A
c.6046C>A (p.Pro2016Thr)
c.3653C>A (n.3653C>A)
c.1330C>A (p.Pro444Thr)
n.1265C>A
c.1333C>A (p.Pro445Thr)
c.5654C>A
c.6112C>A (p.Pro2038Thr)
c.704+332C>A (n.704+332C>A)
c.3434C>A
c.5836C>A (p.Pro1946Thr)
c.5548C>A (p.Pro1850Thr)
c.3076C>A (p.Pro1026Thr)
19g.35732661C=CA2333794430KMT2Bn.418C=
c.6046C= (p.Pro2016=)
c.3653C= (n.3653C=)
c.1330C= (p.Pro444=)
n.1265C=
c.1333C= (p.Pro445=)
c.5654C=
c.6112C= (p.Pro2038=)
c.704+332C= (n.704+332C=)
c.3434C=
c.5836C= (p.Pro1946=)
c.5548C= (p.Pro1850=)
c.3076C= (p.Pro1026=)
19g.35732661C>GCA405425713KMT2Bn.418C>G
c.6046C>G (p.Pro2016Ala)
c.3653C>G (n.3653C>G)
c.1330C>G (p.Pro444Ala)
n.1265C>G
c.1333C>G (p.Pro445Ala)
c.5654C>G
c.6112C>G (p.Pro2038Ala)
c.704+332C>G (n.704+332C>G)
c.3434C>G
c.5836C>G (p.Pro1946Ala)
c.5548C>G (p.Pro1850Ala)
c.3076C>G (p.Pro1026Ala)
19g.35732661C>TCA405425714KMT2Bn.418C>T
c.6046C>T (p.Pro2016Ser)
c.3653C>T (n.3653C>T)
c.1330C>T (p.Pro444Ser)
n.1265C>T
c.1333C>T (p.Pro445Ser)
c.5654C>T
c.6112C>T (p.Pro2038Ser)
c.704+332C>T (n.704+332C>T)
c.3434C>T
c.5836C>T (p.Pro1946Ser)
c.5548C>T (p.Pro1850Ser)
c.3076C>T (p.Pro1026Ser)
dbSNP gnomAD v2 gnomAD v4
19g.35732662C>ACA405425715KMT2Bn.419C>A
c.6047C>A (p.Pro2016His)
c.3654C>A (n.3654C>A)
c.1331C>A (p.Pro444His)
n.1266C>A
c.1334C>A (p.Pro445His)
c.5655C>A
c.6113C>A (p.Pro2038His)
c.704+333C>A (n.704+333C>A)
c.3435C>A
c.5837C>A (p.Pro1946His)
c.5549C>A (p.Pro1850His)
c.3077C>A (p.Pro1026His)
19g.35732662C>GCA405425716KMT2Bn.419C>G
c.6047C>G (p.Pro2016Arg)
c.3654C>G (n.3654C>G)
c.1331C>G (p.Pro444Arg)
n.1266C>G
c.1334C>G (p.Pro445Arg)
c.5655C>G
c.6113C>G (p.Pro2038Arg)
c.704+333C>G (n.704+333C>G)
c.3435C>G
c.5837C>G (p.Pro1946Arg)
c.5549C>G (p.Pro1850Arg)
c.3077C>G (p.Pro1026Arg)
19g.35732662C>TCA405425717KMT2Bn.419C>T
c.6047C>T (p.Pro2016Leu)
c.3654C>T (n.3654C>T)
c.1331C>T (p.Pro444Leu)
n.1266C>T
c.1334C>T (p.Pro445Leu)
c.5655C>T
c.6113C>T (p.Pro2038Leu)
c.704+333C>T (n.704+333C>T)
c.3435C>T
c.5837C>T (p.Pro1946Leu)
c.5549C>T (p.Pro1850Leu)
c.3077C>T (p.Pro1026Leu)
gnomAD v4
19g.35732663T>ACA507308480KMT2Bn.420T>A
c.6048T>A (p.Pro2016=)
c.3655T>A (n.3655T>A)
c.1332T>A (p.Pro444=)
n.1267T>A
c.1335T>A (p.Pro445=)
c.5656T>A
c.6114T>A (p.Pro2038=)
c.704+334T>A (n.704+334T>A)
c.3436T>A
c.5838T>A (p.Pro1946=)
c.5550T>A (p.Pro1850=)
c.3078T>A (p.Pro1026=)
19g.35732663T>CCA507308479KMT2Bn.420T>C
c.6048T>C (p.Pro2016=)
c.3655T>C (n.3655T>C)
c.1332T>C (p.Pro444=)
n.1267T>C
c.1335T>C (p.Pro445=)
c.5656T>C
c.6114T>C (p.Pro2038=)
c.704+334T>C (n.704+334T>C)
c.3436T>C
c.5838T>C (p.Pro1946=)
c.5550T>C (p.Pro1850=)
c.3078T>C (p.Pro1026=)
gnomAD v4
19g.35732663T>GCA507308478KMT2Bn.420T>G
c.6048T>G (p.Pro2016=)
c.3655T>G (n.3655T>G)
c.1332T>G (p.Pro444=)
n.1267T>G
c.1335T>G (p.Pro445=)
c.5656T>G
c.6114T>G (p.Pro2038=)
c.704+334T>G (n.704+334T>G)
c.3436T>G
c.5838T>G (p.Pro1946=)
c.5550T>G (p.Pro1850=)
c.3078T>G (p.Pro1026=)
19g.35732664G>ACA9385610KMT2Bn.421G>A
c.6049G>A (p.Val2017Met)
c.3656G>A (n.3656G>A)
c.1333G>A (p.Val445Met)
n.1268G>A
c.1336G>A (p.Val446Met)
c.5657G>A
c.6115G>A (p.Val2039Met)
c.704+335G>A (n.704+335G>A)
c.3437G>A
c.5839G>A (p.Val1947Met)
c.5551G>A (p.Val1851Met)
c.3079G>A (p.Val1027Met)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35732664G>CCA405425720KMT2Bn.421G>C
c.6049G>C (p.Val2017Leu)
c.3656G>C (n.3656G>C)
c.1333G>C (p.Val445Leu)
n.1268G>C
c.1336G>C (p.Val446Leu)
c.5657G>C
c.6115G>C (p.Val2039Leu)
c.704+335G>C (n.704+335G>C)
c.3437G>C
c.5839G>C (p.Val1947Leu)
c.5551G>C (p.Val1851Leu)
c.3079G>C (p.Val1027Leu)
19g.35732664G=CA2333794431KMT2Bn.421G=
c.6049G= (p.Val2017=)
c.3656G= (n.3656G=)
c.1333G= (p.Val445=)
n.1268G=
c.1336G= (p.Val446=)
c.5657G=
c.6115G= (p.Val2039=)
c.704+335G= (n.704+335G=)
c.3437G=
c.5839G= (p.Val1947=)
c.5551G= (p.Val1851=)
c.3079G= (p.Val1027=)
19g.35732664G>TCA405425722KMT2Bn.421G>T
c.6049G>T (p.Val2017Leu)
c.3656G>T (n.3656G>T)
c.1333G>T (p.Val445Leu)
n.1268G>T
c.1336G>T (p.Val446Leu)
c.5657G>T
c.6115G>T (p.Val2039Leu)
c.704+335G>T (n.704+335G>T)
c.3437G>T
c.5839G>T (p.Val1947Leu)
c.5551G>T (p.Val1851Leu)
c.3079G>T (p.Val1027Leu)
gnomAD v4
19g.35732665T>ACA405425726KMT2Bn.422T>A
c.6050T>A (p.Val2017Glu)
c.3657T>A (n.3657T>A)
c.1334T>A (p.Val445Glu)
n.1269T>A
c.1337T>A (p.Val446Glu)
c.5658T>A
c.6116T>A (p.Val2039Glu)
c.704+336T>A (n.704+336T>A)
c.3438T>A
c.5840T>A (p.Val1947Glu)
c.5552T>A (p.Val1851Glu)
c.3080T>A (p.Val1027Glu)
19g.35732665T>CCA405425727KMT2Bn.422T>C
c.6050T>C (p.Val2017Ala)
c.3657T>C (n.3657T>C)
c.1334T>C (p.Val445Ala)
n.1269T>C
c.1337T>C (p.Val446Ala)
c.5658T>C
c.6116T>C (p.Val2039Ala)
c.704+336T>C (n.704+336T>C)
c.3438T>C
c.5840T>C (p.Val1947Ala)
c.5552T>C (p.Val1851Ala)
c.3080T>C (p.Val1027Ala)
19g.35732665T>GCA405425729KMT2Bn.422T>G
c.6050T>G (p.Val2017Gly)
c.3657T>G (n.3657T>G)
c.1334T>G (p.Val445Gly)
n.1269T>G
c.1337T>G (p.Val446Gly)
c.5658T>G
c.6116T>G (p.Val2039Gly)
c.704+336T>G (n.704+336T>G)
c.3438T>G
c.5840T>G (p.Val1947Gly)
c.5552T>G (p.Val1851Gly)
c.3080T>G (p.Val1027Gly)
19g.35732666G>ACA507308489KMT2Bn.423G>A
c.6051G>A (p.Val2017=)
c.3658G>A (n.3658G>A)
c.1335G>A (p.Val445=)
n.1270G>A
c.1338G>A (p.Val446=)
c.5659G>A
c.6117G>A (p.Val2039=)
c.704+337G>A (n.704+337G>A)
c.3439G>A
c.5841G>A (p.Val1947=)
c.5553G>A (p.Val1851=)
c.3081G>A (p.Val1027=)
19g.35732666G>CCA507308490KMT2Bn.423G>C
c.6051G>C (p.Val2017=)
c.3658G>C (n.3658G>C)
c.1335G>C (p.Val445=)
n.1270G>C
c.1338G>C (p.Val446=)
c.5659G>C
c.6117G>C (p.Val2039=)
c.704+337G>C (n.704+337G>C)
c.3439G>C
c.5841G>C (p.Val1947=)
c.5553G>C (p.Val1851=)
c.3081G>C (p.Val1027=)
19g.35732666G=CA2333794432KMT2Bn.423G=
c.6051G= (p.Val2017=)
c.3658G= (n.3658G=)
c.1335G= (p.Val445=)
n.1270G=
c.1338G= (p.Val446=)
c.5659G=
c.6117G= (p.Val2039=)
c.704+337G= (n.704+337G=)
c.3439G=
c.5841G= (p.Val1947=)
c.5553G= (p.Val1851=)
c.3081G= (p.Val1027=)
19g.35732666G>TCA507308491KMT2Bn.423G>T
c.6051G>T (p.Val2017=)
c.3658G>T (n.3658G>T)
c.1335G>T (p.Val445=)
n.1270G>T
c.1338G>T (p.Val446=)
c.5659G>T
c.6117G>T (p.Val2039=)
c.704+337G>T (n.704+337G>T)
c.3439G>T
c.5841G>T (p.Val1947=)
c.5553G>T (p.Val1851=)
c.3081G>T (p.Val1027=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35732667A=CA2333794433KMT2Bn.424A=
c.6052A= (p.Thr2018=)
c.3659A= (n.3659A=)
c.1336A= (p.Thr446=)
n.1271A=
c.1339A= (p.Thr447=)
c.5660A=
c.6118A= (p.Thr2040=)
c.704+338A= (n.704+338A=)
c.3440A=
c.5842A= (p.Thr1948=)
c.5554A= (p.Thr1852=)
c.3082A= (p.Thr1028=)
19g.35732667A>CCA405425735KMT2Bn.424A>C
c.6052A>C (p.Thr2018Pro)
c.3659A>C (n.3659A>C)
c.1336A>C (p.Thr446Pro)
n.1271A>C
c.1339A>C (p.Thr447Pro)
c.5660A>C
c.6118A>C (p.Thr2040Pro)
c.704+338A>C (n.704+338A>C)
c.3440A>C
c.5842A>C (p.Thr1948Pro)
c.5554A>C (p.Thr1852Pro)
c.3082A>C (p.Thr1028Pro)
19g.35732667A>GCA405425737KMT2Bn.424A>G
c.6052A>G (p.Thr2018Ala)
c.3659A>G (n.3659A>G)
c.1336A>G (p.Thr446Ala)
n.1271A>G
c.1339A>G (p.Thr447Ala)
c.5660A>G
c.6118A>G (p.Thr2040Ala)
c.704+338A>G (n.704+338A>G)
c.3440A>G
c.5842A>G (p.Thr1948Ala)
c.5554A>G (p.Thr1852Ala)
c.3082A>G (p.Thr1028Ala)
dbSNP
19g.35732667A>TCA405425732KMT2Bn.424A>T
c.6052A>T (p.Thr2018Ser)
c.3659A>T (n.3659A>T)
c.1336A>T (p.Thr446Ser)
n.1271A>T
c.1339A>T (p.Thr447Ser)
c.5660A>T
c.6118A>T (p.Thr2040Ser)
c.704+338A>T (n.704+338A>T)
c.3440A>T
c.5842A>T (p.Thr1948Ser)
c.5554A>T (p.Thr1852Ser)
c.3082A>T (p.Thr1028Ser)
19g.35732668C>ACA405425740KMT2Bn.425C>A
c.6053C>A (p.Thr2018Asn)
c.3660C>A (n.3660C>A)
c.1337C>A (p.Thr446Asn)
n.1272C>A
c.1340C>A (p.Thr447Asn)
c.5661C>A
c.6119C>A (p.Thr2040Asn)
c.704+339C>A (n.704+339C>A)
c.3441C>A
c.5843C>A (p.Thr1948Asn)
c.5555C>A (p.Thr1852Asn)
c.3083C>A (p.Thr1028Asn)
19g.35732668C=CA2333794434KMT2Bn.425C=
c.6053C= (p.Thr2018=)
c.3660C= (n.3660C=)
c.1337C= (p.Thr446=)
n.1272C=
c.1340C= (p.Thr447=)
c.5661C=
c.6119C= (p.Thr2040=)
c.704+339C= (n.704+339C=)
c.3441C=
c.5843C= (p.Thr1948=)
c.5555C= (p.Thr1852=)
c.3083C= (p.Thr1028=)
19g.35732668C>GCA405425742KMT2Bn.425C>G
c.6053C>G (p.Thr2018Ser)
c.3660C>G (n.3660C>G)
c.1337C>G (p.Thr446Ser)
n.1272C>G
c.1340C>G (p.Thr447Ser)
c.5661C>G
c.6119C>G (p.Thr2040Ser)
c.704+339C>G (n.704+339C>G)
c.3441C>G
c.5843C>G (p.Thr1948Ser)
c.5555C>G (p.Thr1852Ser)
c.3083C>G (p.Thr1028Ser)
19g.35732668C>TCA405425744KMT2Bn.425C>T
c.6053C>T (p.Thr2018Ile)
c.3660C>T (n.3660C>T)
c.1337C>T (p.Thr446Ile)
n.1272C>T
c.1340C>T (p.Thr447Ile)
c.5661C>T
c.6119C>T (p.Thr2040Ile)
c.704+339C>T (n.704+339C>T)
c.3441C>T
c.5843C>T (p.Thr1948Ile)
c.5555C>T (p.Thr1852Ile)
c.3083C>T (p.Thr1028Ile)
dbSNP gnomAD v2 gnomAD v4
19g.35732669T>ACA507308495KMT2Bn.426T>A
c.6054T>A (p.Thr2018=)
c.3661T>A (n.3661T>A)
c.1338T>A (p.Thr446=)
n.1273T>A
c.1341T>A (p.Thr447=)
c.5662T>A
c.6120T>A (p.Thr2040=)
c.704+340T>A (n.704+340T>A)
c.3442T>A
c.5844T>A (p.Thr1948=)
c.5556T>A (p.Thr1852=)
c.3084T>A (p.Thr1028=)
dbSNP
19g.35732669T>CCA507308499KMT2Bn.426T>C
c.6054T>C (p.Thr2018=)
c.3661T>C (n.3661T>C)
c.1338T>C (p.Thr446=)
n.1273T>C
c.1341T>C (p.Thr447=)
c.5662T>C
c.6120T>C (p.Thr2040=)
c.704+340T>C (n.704+340T>C)
c.3442T>C
c.5844T>C (p.Thr1948=)
c.5556T>C (p.Thr1852=)
c.3084T>C (p.Thr1028=)
19g.35732669T>GCA507308496KMT2Bn.426T>G
c.6054T>G (p.Thr2018=)
c.3661T>G (n.3661T>G)
c.1338T>G (p.Thr446=)
n.1273T>G
c.1341T>G (p.Thr447=)
c.5662T>G
c.6120T>G (p.Thr2040=)
c.704+340T>G (n.704+340T>G)
c.3442T>G
c.5844T>G (p.Thr1948=)
c.5556T>G (p.Thr1852=)
c.3084T>G (p.Thr1028=)
19g.35732669T=CA2333794435KMT2Bn.426T=
c.6054T= (p.Thr2018=)
c.3661T= (n.3661T=)
c.1338T= (p.Thr446=)
n.1273T=
c.1341T= (p.Thr447=)
c.5662T=
c.6120T= (p.Thr2040=)
c.704+340T= (n.704+340T=)
c.3442T=
c.5844T= (p.Thr1948=)
c.5556T= (p.Thr1852=)
c.3084T= (p.Thr1028=)
19g.35732670G>ACA405425747KMT2Bn.427G>A
c.6055G>A (p.Val2019Met)
c.3662G>A (n.3662G>A)
c.1339G>A (p.Val447Met)
n.1274G>A
c.1342G>A (p.Val448Met)
c.5663G>A
c.6121G>A (p.Val2041Met)
c.704+341G>A (n.704+341G>A)
c.3443G>A
c.5845G>A (p.Val1949Met)
c.5557G>A (p.Val1853Met)
c.3085G>A (p.Val1029Met)
19g.35732670G>CCA405425749KMT2Bn.427G>C
c.6055G>C (p.Val2019Leu)
c.3662G>C (n.3662G>C)
c.1339G>C (p.Val447Leu)
n.1274G>C
c.1342G>C (p.Val448Leu)
c.5663G>C
c.6121G>C (p.Val2041Leu)
c.704+341G>C (n.704+341G>C)
c.3443G>C
c.5845G>C (p.Val1949Leu)
c.5557G>C (p.Val1853Leu)
c.3085G>C (p.Val1029Leu)
ClinVar dbSNP
19g.35732670G>TCA405425751KMT2Bn.427G>T
c.6055G>T (p.Val2019Leu)
c.3662G>T (n.3662G>T)
c.1339G>T (p.Val447Leu)
n.1274G>T
c.1342G>T (p.Val448Leu)
c.5663G>T
c.6121G>T (p.Val2041Leu)
c.704+341G>T (n.704+341G>T)
c.3443G>T
c.5845G>T (p.Val1949Leu)
c.5557G>T (p.Val1853Leu)
c.3085G>T (p.Val1029Leu)
19g.35732671T>ACA405425754KMT2Bn.428T>A
c.6056T>A (p.Val2019Glu)
c.3663T>A (n.3663T>A)
c.1340T>A (p.Val447Glu)
n.1275T>A
c.1343T>A (p.Val448Glu)
c.5664T>A
c.6122T>A (p.Val2041Glu)
c.704+342T>A (n.704+342T>A)
c.3444T>A
c.5846T>A (p.Val1949Glu)
c.5558T>A (p.Val1853Glu)
c.3086T>A (p.Val1029Glu)
19g.35732671T>CCA405425755KMT2Bn.428T>C
c.6056T>C (p.Val2019Ala)
c.3663T>C (n.3663T>C)
c.1340T>C (p.Val447Ala)
n.1275T>C
c.1343T>C (p.Val448Ala)
c.5664T>C
c.6122T>C (p.Val2041Ala)
c.704+342T>C (n.704+342T>C)
c.3444T>C
c.5846T>C (p.Val1949Ala)
c.5558T>C (p.Val1853Ala)
c.3086T>C (p.Val1029Ala)
19g.35732671T>GCA405425757KMT2Bn.428T>G
c.6056T>G (p.Val2019Gly)
c.3663T>G (n.3663T>G)
c.1340T>G (p.Val447Gly)
n.1275T>G
c.1343T>G (p.Val448Gly)
c.5664T>G
c.6122T>G (p.Val2041Gly)
c.704+342T>G (n.704+342T>G)
c.3444T>G
c.5846T>G (p.Val1949Gly)
c.5558T>G (p.Val1853Gly)
c.3086T>G (p.Val1029Gly)
gnomAD v4
19g.35732672G>ACA507308502KMT2Bn.429G>A
c.6057G>A (p.Val2019=)
c.3664G>A (n.3664G>A)
c.1341G>A (p.Val447=)
n.1276G>A
c.1344G>A (p.Val448=)
c.5665G>A
c.6123G>A (p.Val2041=)
c.704+343G>A (n.704+343G>A)
c.3445G>A
c.5847G>A (p.Val1949=)
c.5559G>A (p.Val1853=)
c.3087G>A (p.Val1029=)
gnomAD v4
19g.35732672G>CCA507308504KMT2Bn.429G>C
c.6057G>C (p.Val2019=)
c.3664G>C (n.3664G>C)
c.1341G>C (p.Val447=)
n.1276G>C
c.1344G>C (p.Val448=)
c.5665G>C
c.6123G>C (p.Val2041=)
c.704+343G>C (n.704+343G>C)
c.3445G>C
c.5847G>C (p.Val1949=)
c.5559G>C (p.Val1853=)
c.3087G>C (p.Val1029=)
19g.35732672G>TCA507308508KMT2Bn.429G>T
c.6057G>T (p.Val2019=)
c.3664G>T (n.3664G>T)
c.1341G>T (p.Val447=)
n.1276G>T
c.1344G>T (p.Val448=)
c.5665G>T
c.6123G>T (p.Val2041=)
c.704+343G>T (n.704+343G>T)
c.3445G>T
c.5847G>T (p.Val1949=)
c.5559G>T (p.Val1853=)
c.3087G>T (p.Val1029=)
19g.35732673G>ACA405425761KMT2Bn.430G>A
c.6058G>A (p.Val2020Met)
c.3665G>A (n.3665G>A)
c.1342G>A (p.Val448Met)
n.1277G>A
c.1345G>A (p.Val449Met)
c.5666G>A
c.6124G>A (p.Val2042Met)
c.704+344G>A (n.704+344G>A)
c.3446G>A
c.5848G>A (p.Val1950Met)
c.5560G>A (p.Val1854Met)
c.3088G>A (p.Val1030Met)
gnomAD v4
19g.35732673G>CCA405425762KMT2Bn.430G>C
c.6058G>C (p.Val2020Leu)
c.3665G>C (n.3665G>C)
c.1342G>C (p.Val448Leu)
n.1277G>C
c.1345G>C (p.Val449Leu)
c.5666G>C
c.6124G>C (p.Val2042Leu)
c.704+344G>C (n.704+344G>C)
c.3446G>C
c.5848G>C (p.Val1950Leu)
c.5560G>C (p.Val1854Leu)
c.3088G>C (p.Val1030Leu)
19g.35732673G=CA2333794436KMT2Bn.430G=
c.6058G= (p.Val2020=)
c.3665G= (n.3665G=)
c.1342G= (p.Val448=)
n.1277G=
c.1345G= (p.Val449=)
c.5666G=
c.6124G= (p.Val2042=)
c.704+344G= (n.704+344G=)
c.3446G=
c.5848G= (p.Val1950=)
c.5560G= (p.Val1854=)
c.3088G= (p.Val1030=)
19g.35732673G>TCA405425764KMT2Bn.430G>T
c.6058G>T (p.Val2020Leu)
c.3665G>T (n.3665G>T)
c.1342G>T (p.Val448Leu)
n.1277G>T
c.1345G>T (p.Val449Leu)
c.5666G>T
c.6124G>T (p.Val2042Leu)
c.704+344G>T (n.704+344G>T)
c.3446G>T
c.5848G>T (p.Val1950Leu)
c.5560G>T (p.Val1854Leu)
c.3088G>T (p.Val1030Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35732674T>ACA405425770KMT2Bn.431T>A
c.6059T>A (p.Val2020Glu)
c.3666T>A (n.3666T>A)
c.1343T>A (p.Val448Glu)
n.1278T>A
c.1346T>A (p.Val449Glu)
c.5667T>A
c.6125T>A (p.Val2042Glu)
c.704+345T>A (n.704+345T>A)
c.3447T>A
c.5849T>A (p.Val1950Glu)
c.5561T>A (p.Val1854Glu)
c.3089T>A (p.Val1030Glu)
19g.35732674T>CCA307796290KMT2Bn.431T>C
c.6059T>C (p.Val2020Ala)
c.3666T>C (n.3666T>C)
c.1343T>C (p.Val448Ala)
n.1278T>C
c.1346T>C (p.Val449Ala)
c.5667T>C
c.6125T>C (p.Val2042Ala)
c.704+345T>C (n.704+345T>C)
c.3447T>C
c.5849T>C (p.Val1950Ala)
c.5561T>C (p.Val1854Ala)
c.3089T>C (p.Val1030Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35732674T>GCA405425768KMT2Bn.431T>G
c.6059T>G (p.Val2020Gly)
c.3666T>G (n.3666T>G)
c.1343T>G (p.Val448Gly)
n.1278T>G
c.1346T>G (p.Val449Gly)
c.5667T>G
c.6125T>G (p.Val2042Gly)
c.704+345T>G (n.704+345T>G)
c.3447T>G
c.5849T>G (p.Val1950Gly)
c.5561T>G (p.Val1854Gly)
c.3089T>G (p.Val1030Gly)
19g.35732674T=CA2333794437KMT2Bn.431T=
c.6059T= (p.Val2020=)
c.3666T= (n.3666T=)
c.1343T= (p.Val448=)
n.1278T=
c.1346T= (p.Val449=)
c.5667T=
c.6125T= (p.Val2042=)
c.704+345T= (n.704+345T=)
c.3447T=
c.5849T= (p.Val1950=)
c.5561T= (p.Val1854=)
c.3089T= (p.Val1030=)
19g.35732675G>ACA507308511KMT2Bn.432G>A
c.6060G>A (p.Val2020=)
c.3667G>A (n.3667G>A)
c.1344G>A (p.Val448=)
n.1279G>A
c.1347G>A (p.Val449=)
c.5668G>A
c.6126G>A (p.Val2042=)
c.704+346G>A (n.704+346G>A)
c.3448G>A
c.5850G>A (p.Val1950=)
c.5562G>A (p.Val1854=)
c.3090G>A (p.Val1030=)
gnomAD v4
19g.35732675G>CCA507308515KMT2Bn.432G>C
c.6060G>C (p.Val2020=)
c.3667G>C (n.3667G>C)
c.1344G>C (p.Val448=)
n.1279G>C
c.1347G>C (p.Val449=)
c.5668G>C
c.6126G>C (p.Val2042=)
c.704+346G>C (n.704+346G>C)
c.3448G>C
c.5850G>C (p.Val1950=)
c.5562G>C (p.Val1854=)
c.3090G>C (p.Val1030=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35732675G=CA2333794438KMT2Bn.432G=
c.6060G= (p.Val2020=)
c.3667G= (n.3667G=)
c.1344G= (p.Val448=)
n.1279G=
c.1347G= (p.Val449=)
c.5668G=
c.6126G= (p.Val2042=)
c.704+346G= (n.704+346G=)
c.3448G=
c.5850G= (p.Val1950=)
c.5562G= (p.Val1854=)
c.3090G= (p.Val1030=)
19g.35732675G>TCA507308513KMT2Bn.432G>T
c.6060G>T (p.Val2020=)
c.3667G>T (n.3667G>T)
c.1344G>T (p.Val448=)
n.1279G>T
c.1347G>T (p.Val449=)
c.5668G>T
c.6126G>T (p.Val2042=)
c.704+346G>T (n.704+346G>T)
c.3448G>T
c.5850G>T (p.Val1950=)
c.5562G>T (p.Val1854=)
c.3090G>T (p.Val1030=)
19g.35732676T>ACA405425774KMT2Bn.433T>A
c.6061T>A (p.Ser2021Thr)
c.3668T>A (n.3668T>A)
c.1345T>A (p.Ser449Thr)
n.1280T>A
c.1348T>A (p.Ser450Thr)
c.5669T>A
c.6127T>A (p.Ser2043Thr)
c.704+347T>A (n.704+347T>A)
c.3449T>A
c.5851T>A (p.Ser1951Thr)
c.5563T>A (p.Ser1855Thr)
c.3091T>A (p.Ser1031Thr)
19g.35732676T>CCA405425777KMT2Bn.433T>C
c.6061T>C (p.Ser2021Pro)
c.3668T>C (n.3668T>C)
c.1345T>C (p.Ser449Pro)
n.1280T>C
c.1348T>C (p.Ser450Pro)
c.5669T>C
c.6127T>C (p.Ser2043Pro)
c.704+347T>C (n.704+347T>C)
c.3449T>C
c.5851T>C (p.Ser1951Pro)
c.5563T>C (p.Ser1855Pro)
c.3091T>C (p.Ser1031Pro)
19g.35732676T>GCA405425779KMT2Bn.433T>G
c.6061T>G (p.Ser2021Ala)
c.3668T>G (n.3668T>G)
c.1345T>G (p.Ser449Ala)
n.1280T>G
c.1348T>G (p.Ser450Ala)
c.5669T>G
c.6127T>G (p.Ser2043Ala)
c.704+347T>G (n.704+347T>G)
c.3449T>G
c.5851T>G (p.Ser1951Ala)
c.5563T>G (p.Ser1855Ala)
c.3091T>G (p.Ser1031Ala)
ClinVar gnomAD v4
19g.35732677C>ACA405425782KMT2Bn.434C>A
c.6062C>A (p.Ser2021Tyr)
c.3669C>A (n.3669C>A)
c.1346C>A (p.Ser449Tyr)
n.1281C>A
c.1349C>A (p.Ser450Tyr)
c.5670C>A
c.6128C>A (p.Ser2043Tyr)
c.704+348C>A (n.704+348C>A)
c.3450C>A
c.5852C>A (p.Ser1951Tyr)
c.5564C>A (p.Ser1855Tyr)
c.3092C>A (p.Ser1031Tyr)
19g.35732677C>GCA405425785KMT2Bn.434C>G
c.6062C>G (p.Ser2021Cys)
c.3669C>G (n.3669C>G)
c.1346C>G (p.Ser449Cys)
n.1281C>G
c.1349C>G (p.Ser450Cys)
c.5670C>G
c.6128C>G (p.Ser2043Cys)
c.704+348C>G (n.704+348C>G)
c.3450C>G
c.5852C>G (p.Ser1951Cys)
c.5564C>G (p.Ser1855Cys)
c.3092C>G (p.Ser1031Cys)
19g.35732677C>TCA405425787KMT2Bn.434C>T
c.6062C>T (p.Ser2021Phe)
c.3669C>T (n.3669C>T)
c.1346C>T (p.Ser449Phe)
n.1281C>T
c.1349C>T (p.Ser450Phe)
c.5670C>T
c.6128C>T (p.Ser2043Phe)
c.704+348C>T (n.704+348C>T)
c.3450C>T
c.5852C>T (p.Ser1951Phe)
c.5564C>T (p.Ser1855Phe)
c.3092C>T (p.Ser1031Phe)
gnomAD v4
19g.35732678C>ACA507308518KMT2Bn.435C>A
c.6063C>A (p.Ser2021=)
c.3670C>A (n.3670C>A)
c.1347C>A (p.Ser449=)
n.1282C>A
c.1350C>A (p.Ser450=)
c.5671C>A
c.6129C>A (p.Ser2043=)
c.704+349C>A (n.704+349C>A)
c.3451C>A
c.5853C>A (p.Ser1951=)
c.5565C>A (p.Ser1855=)
c.3093C>A (p.Ser1031=)
19g.35732678C=CA2333794439KMT2Bn.435C=
c.6063C= (p.Ser2021=)
c.3670C= (n.3670C=)
c.1347C= (p.Ser449=)
n.1282C=
c.1350C= (p.Ser450=)
c.5671C=
c.6129C= (p.Ser2043=)
c.704+349C= (n.704+349C=)
c.3451C=
c.5853C= (p.Ser1951=)
c.5565C= (p.Ser1855=)
c.3093C= (p.Ser1031=)
19g.35732678C>GCA507308520KMT2Bn.435C>G
c.6063C>G (p.Ser2021=)
c.3670C>G (n.3670C>G)
c.1347C>G (p.Ser449=)
n.1282C>G
c.1350C>G (p.Ser450=)
c.5671C>G
c.6129C>G (p.Ser2043=)
c.704+349C>G (n.704+349C>G)
c.3451C>G
c.5853C>G (p.Ser1951=)
c.5565C>G (p.Ser1855=)
c.3093C>G (p.Ser1031=)
19g.35732678C>TCA9385611KMT2Bn.435C>T
c.6063C>T (p.Ser2021=)
c.3670C>T (n.3670C>T)
c.1347C>T (p.Ser449=)
n.1282C>T
c.1350C>T (p.Ser450=)
c.5671C>T
c.6129C>T (p.Ser2043=)
c.704+349C>T (n.704+349C>T)
c.3451C>T
c.5853C>T (p.Ser1951=)
c.5565C>T (p.Ser1855=)
c.3093C>T (p.Ser1031=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35732679G>ACA9385612KMT2Bn.436G>A
c.6064G>A (p.Ala2022Thr)
c.3671G>A (n.3671G>A)
c.1348G>A (p.Ala450Thr)
n.1283G>A
c.1351G>A (p.Ala451Thr)
c.5672G>A
c.6130G>A (p.Ala2044Thr)
c.704+350G>A (n.704+350G>A)
c.3452G>A
c.5854G>A (p.Ala1952Thr)
c.5566G>A (p.Ala1856Thr)
c.3094G>A (p.Ala1032Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35732679G>CCA405425794KMT2Bn.436G>C
c.6064G>C (p.Ala2022Pro)
c.3671G>C (n.3671G>C)
c.1348G>C (p.Ala450Pro)
n.1283G>C
c.1351G>C (p.Ala451Pro)
c.5672G>C
c.6130G>C (p.Ala2044Pro)
c.704+350G>C (n.704+350G>C)
c.3452G>C
c.5854G>C (p.Ala1952Pro)
c.5566G>C (p.Ala1856Pro)
c.3094G>C (p.Ala1032Pro)
19g.35732679G=CA2333794441KMT2Bn.436G=
c.6064G= (p.Ala2022=)
c.3671G= (n.3671G=)
c.1348G= (p.Ala450=)
n.1283G=
c.1351G= (p.Ala451=)
c.5672G=
c.6130G= (p.Ala2044=)
c.704+350G= (n.704+350G=)
c.3452G=
c.5854G= (p.Ala1952=)
c.5566G= (p.Ala1856=)
c.3094G= (p.Ala1032=)
19g.35732679G>TCA405425796KMT2Bn.436G>T
c.6064G>T (p.Ala2022Ser)
c.3671G>T (n.3671G>T)
c.1348G>T (p.Ala450Ser)
n.1283G>T
c.1351G>T (p.Ala451Ser)
c.5672G>T
c.6130G>T (p.Ala2044Ser)
c.704+350G>T (n.704+350G>T)
c.3452G>T
c.5854G>T (p.Ala1952Ser)
c.5566G>T (p.Ala1856Ser)
c.3094G>T (p.Ala1032Ser)
gnomAD v4
19g.35732679_35732702dupCA2333794440KMT2Bn.436_459dup
c.6064_6087dup (p.Ala2029_Thr2030insAlaProGlyLeuAlaProSerAla)
c.3671_3694dup (n.3671_3694dup)
c.1348_1371dup (p.Ala457_Thr458insAlaProGlyLeuAlaProSerAla)
n.1283_1306dup
c.1351_1374dup (p.Ala458_Thr459insAlaProGlyLeuAlaProSerAla)
c.5672_5695dup
c.6130_6153dup (p.Ala2051_Thr2052insAlaProGlyLeuAlaProSerAla)
c.704+350_704+373dup (n.704+350_704+373dup)
c.3452_3475dup
c.5854_5877dup (p.Ala1959_Thr1960insAlaProGlyLeuAlaProSerAla)
c.5566_5589dup (p.Ala1863_Thr1864insAlaProGlyLeuAlaProSerAla)
c.3094_3117dup (p.Ala1039_Thr1040insAlaProGlyLeuAlaProSerAla)
dbSNP
19g.35732680C>ACA405425799KMT2Bn.437C>A
c.6065C>A (p.Ala2022Asp)
c.3672C>A (n.3672C>A)
c.1349C>A (p.Ala450Asp)
n.1284C>A
c.1352C>A (p.Ala451Asp)
c.5673C>A
c.6131C>A (p.Ala2044Asp)
c.704+351C>A (n.704+351C>A)
c.3453C>A
c.5855C>A (p.Ala1952Asp)
c.5567C>A (p.Ala1856Asp)
c.3095C>A (p.Ala1032Asp)
19g.35732680C>GCA405425800KMT2Bn.437C>G
c.6065C>G (p.Ala2022Gly)
c.3672C>G (n.3672C>G)
c.1349C>G (p.Ala450Gly)
n.1284C>G
c.1352C>G (p.Ala451Gly)
c.5673C>G
c.6131C>G (p.Ala2044Gly)
c.704+351C>G (n.704+351C>G)
c.3453C>G
c.5855C>G (p.Ala1952Gly)
c.5567C>G (p.Ala1856Gly)
c.3095C>G (p.Ala1032Gly)
19g.35732680C>TCA405425802KMT2Bn.437C>T
c.6065C>T (p.Ala2022Val)
c.3672C>T (n.3672C>T)
c.1349C>T (p.Ala450Val)
n.1284C>T
c.1352C>T (p.Ala451Val)
c.5673C>T
c.6131C>T (p.Ala2044Val)
c.704+351C>T (n.704+351C>T)
c.3453C>T
c.5855C>T (p.Ala1952Val)
c.5567C>T (p.Ala1856Val)
c.3095C>T (p.Ala1032Val)
ClinVar
19g.35732681C>ACA507308529KMT2Bn.438C>A
c.6066C>A (p.Ala2022=)
c.3673C>A (n.3673C>A)
c.1350C>A (p.Ala450=)
n.1285C>A
c.1353C>A (p.Ala451=)
c.5674C>A
c.6132C>A (p.Ala2044=)
c.704+352C>A (n.704+352C>A)
c.3454C>A
c.5856C>A (p.Ala1952=)
c.5568C>A (p.Ala1856=)
c.3096C>A (p.Ala1032=)
19g.35732681C=CA2333794442KMT2Bn.438C=
c.6066C= (p.Ala2022=)
c.3673C= (n.3673C=)
c.1350C= (p.Ala450=)
n.1285C=
c.1353C= (p.Ala451=)
c.5674C=
c.6132C= (p.Ala2044=)
c.704+352C= (n.704+352C=)
c.3454C=
c.5856C= (p.Ala1952=)
c.5568C= (p.Ala1856=)
c.3096C= (p.Ala1032=)
19g.35732681C>GCA507308531KMT2Bn.438C>G
c.6066C>G (p.Ala2022=)
c.3673C>G (n.3673C>G)
c.1350C>G (p.Ala450=)
n.1285C>G
c.1353C>G (p.Ala451=)
c.5674C>G
c.6132C>G (p.Ala2044=)
c.704+352C>G (n.704+352C>G)
c.3454C>G
c.5856C>G (p.Ala1952=)
c.5568C>G (p.Ala1856=)
c.3096C>G (p.Ala1032=)
19g.35732681C>TCA507308533KMT2Bn.438C>T
c.6066C>T (p.Ala2022=)
c.3673C>T (n.3673C>T)
c.1350C>T (p.Ala450=)
n.1285C>T
c.1353C>T (p.Ala451=)
c.5674C>T
c.6132C>T (p.Ala2044=)
c.704+352C>T (n.704+352C>T)
c.3454C>T
c.5856C>T (p.Ala1952=)
c.5568C>T (p.Ala1856=)
c.3096C>T (p.Ala1032=)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched