Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35729921_35729996delCA2814254885KMT2Bc.4852-46_4881del
c.2459-46_2488del
c.136-46_165del
c.344-46_373del
n.71-46_100del
c.139-46_168del
c.4460-46_4489del
c.4918-46_4947del
c.2240-46_2269del
c.4642-46_4671del
c.4354-46_4383del
c.1882-46_1911del
19g.35729946G>TCA2584574690KMT2Bc.4852-21G>T (n.4852-21G>T)
c.2459-21G>T (n.2459-21G>T)
c.136-21G>T (n.136-21G>T)
c.344-21G>T
n.71-21G>T
c.139-21G>T (n.139-21G>T)
c.4460-21G>T
c.4918-21G>T (n.4918-21G>T)
c.2240-21G>T
c.4642-21G>T (n.4642-21G>T)
c.4354-21G>T (n.4354-21G>T)
c.1882-21G>T (n.1882-21G>T)
gnomAD v4
19g.35729949C>ACA2584574691KMT2Bc.4852-18C>A (n.4852-18C>A)
c.2459-18C>A (n.2459-18C>A)
c.136-18C>A (n.136-18C>A)
c.344-18C>A
n.71-18C>A
c.139-18C>A (n.139-18C>A)
c.4460-18C>A
c.4918-18C>A (n.4918-18C>A)
c.2240-18C>A
c.4642-18C>A (n.4642-18C>A)
c.4354-18C>A (n.4354-18C>A)
c.1882-18C>A (n.1882-18C>A)
gnomAD v4
19g.35729951G>ACA2584574692KMT2Bc.4852-16G>A (n.4852-16G>A)
c.2459-16G>A (n.2459-16G>A)
c.136-16G>A (n.136-16G>A)
c.344-16G>A
n.71-16G>A
c.139-16G>A (n.139-16G>A)
c.4460-16G>A
c.4918-16G>A (n.4918-16G>A)
c.2240-16G>A
c.4642-16G>A (n.4642-16G>A)
c.4354-16G>A (n.4354-16G>A)
c.1882-16G>A (n.1882-16G>A)
gnomAD v4
19g.35729951G=CA2333793062KMT2Bc.4852-16G= (n.4852-16G=)
c.2459-16G= (n.2459-16G=)
c.136-16G= (n.136-16G=)
c.344-16G=
n.71-16G=
c.139-16G= (n.139-16G=)
c.4460-16G=
c.4918-16G= (n.4918-16G=)
c.2240-16G=
c.4642-16G= (n.4642-16G=)
c.4354-16G= (n.4354-16G=)
c.1882-16G= (n.1882-16G=)
19g.35729951G>TCA633059959KMT2Bc.4852-16G>T (n.4852-16G>T)
c.2459-16G>T (n.2459-16G>T)
c.136-16G>T (n.136-16G>T)
c.344-16G>T
n.71-16G>T
c.139-16G>T (n.139-16G>T)
c.4460-16G>T
c.4918-16G>T (n.4918-16G>T)
c.2240-16G>T
c.4642-16G>T (n.4642-16G>T)
c.4354-16G>T (n.4354-16G>T)
c.1882-16G>T (n.1882-16G>T)
dbSNP gnomAD v2 gnomAD v4
19g.35729954C=CA2333793063KMT2Bc.4852-13C= (n.4852-13C=)
c.2459-13C= (n.2459-13C=)
c.136-13C= (n.136-13C=)
c.344-13C=
n.71-13C=
c.139-13C= (n.139-13C=)
c.4460-13C=
c.4918-13C= (n.4918-13C=)
c.2240-13C=
c.4642-13C= (n.4642-13C=)
c.4354-13C= (n.4354-13C=)
c.1882-13C= (n.1882-13C=)
19g.35729954C>GCA633059960KMT2Bc.4852-13C>G (n.4852-13C>G)
c.2459-13C>G (n.2459-13C>G)
c.136-13C>G (n.136-13C>G)
c.344-13C>G
n.71-13C>G
c.139-13C>G (n.139-13C>G)
c.4460-13C>G
c.4918-13C>G (n.4918-13C>G)
c.2240-13C>G
c.4642-13C>G (n.4642-13C>G)
c.4354-13C>G (n.4354-13C>G)
c.1882-13C>G (n.1882-13C>G)
dbSNP gnomAD v2 gnomAD v4
19g.35729954C>TCA2333793064KMT2Bc.4852-13C>T (n.4852-13C>T)
c.2459-13C>T (n.2459-13C>T)
c.136-13C>T (n.136-13C>T)
c.344-13C>T
n.71-13C>T
c.139-13C>T (n.139-13C>T)
c.4460-13C>T
c.4918-13C>T (n.4918-13C>T)
c.2240-13C>T
c.4642-13C>T (n.4642-13C>T)
c.4354-13C>T (n.4354-13C>T)
c.1882-13C>T (n.1882-13C>T)
dbSNP gnomAD v4
19g.35729955T>CCA2584574693KMT2Bc.4852-12T>C (n.4852-12T>C)
c.2459-12T>C (n.2459-12T>C)
c.136-12T>C (n.136-12T>C)
c.344-12T>C
n.71-12T>C
c.139-12T>C (n.139-12T>C)
c.4460-12T>C
c.4918-12T>C (n.4918-12T>C)
c.2240-12T>C
c.4642-12T>C (n.4642-12T>C)
c.4354-12T>C (n.4354-12T>C)
c.1882-12T>C (n.1882-12T>C)
gnomAD v4
19g.35729956C>ACA633059962KMT2Bc.4852-11C>A (n.4852-11C>A)
c.2459-11C>A (n.2459-11C>A)
c.136-11C>A (n.136-11C>A)
c.344-11C>A
n.71-11C>A
c.139-11C>A (n.139-11C>A)
c.4460-11C>A
c.4918-11C>A (n.4918-11C>A)
c.2240-11C>A
c.4642-11C>A (n.4642-11C>A)
c.4354-11C>A (n.4354-11C>A)
c.1882-11C>A (n.1882-11C>A)
dbSNP gnomAD v2 gnomAD v4
19g.35729956C=CA2333793065KMT2Bc.4852-11C= (n.4852-11C=)
c.2459-11C= (n.2459-11C=)
c.136-11C= (n.136-11C=)
c.344-11C=
n.71-11C=
c.139-11C= (n.139-11C=)
c.4460-11C=
c.4918-11C= (n.4918-11C=)
c.2240-11C=
c.4642-11C= (n.4642-11C=)
c.4354-11C= (n.4354-11C=)
c.1882-11C= (n.1882-11C=)
19g.35729956C>TCA2580096844KMT2Bc.4852-11C>T (n.4852-11C>T)
c.2459-11C>T (n.2459-11C>T)
c.136-11C>T (n.136-11C>T)
c.344-11C>T
n.71-11C>T
c.139-11C>T (n.139-11C>T)
c.4460-11C>T
c.4918-11C>T (n.4918-11C>T)
c.2240-11C>T
c.4642-11C>T (n.4642-11C>T)
c.4354-11C>T (n.4354-11C>T)
c.1882-11C>T (n.1882-11C>T)
ClinVar gnomAD v4
19g.35729957C>ACA2814254887KMT2Bc.4852-10C>A (n.4852-10C>A)
c.2459-10C>A (n.2459-10C>A)
c.136-10C>A (n.136-10C>A)
c.344-10C>A
n.71-10C>A
c.139-10C>A (n.139-10C>A)
c.4460-10C>A
c.4918-10C>A (n.4918-10C>A)
c.2240-10C>A
c.4642-10C>A (n.4642-10C>A)
c.4354-10C>A (n.4354-10C>A)
c.1882-10C>A (n.1882-10C>A)
19g.35729957C=CA2333793066KMT2Bc.4852-10C= (n.4852-10C=)
c.2459-10C= (n.2459-10C=)
c.136-10C= (n.136-10C=)
c.344-10C=
n.71-10C=
c.139-10C= (n.139-10C=)
c.4460-10C=
c.4918-10C= (n.4918-10C=)
c.2240-10C=
c.4642-10C= (n.4642-10C=)
c.4354-10C= (n.4354-10C=)
c.1882-10C= (n.1882-10C=)
19g.35729957C>TCA633059963KMT2Bc.4852-10C>T (n.4852-10C>T)
c.2459-10C>T (n.2459-10C>T)
c.136-10C>T (n.136-10C>T)
c.344-10C>T
n.71-10C>T
c.139-10C>T (n.139-10C>T)
c.4460-10C>T
c.4918-10C>T (n.4918-10C>T)
c.2240-10C>T
c.4642-10C>T (n.4642-10C>T)
c.4354-10C>T (n.4354-10C>T)
c.1882-10C>T (n.1882-10C>T)
dbSNP gnomAD v2 gnomAD v4
19g.35729958C>ACA2584574694KMT2Bc.4852-9C>A (n.4852-9C>A)
c.2459-9C>A (n.2459-9C>A)
c.136-9C>A (n.136-9C>A)
c.344-9C>A
n.71-9C>A
c.139-9C>A (n.139-9C>A)
c.4460-9C>A
c.4918-9C>A (n.4918-9C>A)
c.2240-9C>A
c.4642-9C>A (n.4642-9C>A)
c.4354-9C>A (n.4354-9C>A)
c.1882-9C>A (n.1882-9C>A)
gnomAD v4
19g.35729958C=CA2333793067KMT2Bc.4852-9C= (n.4852-9C=)
c.2459-9C= (n.2459-9C=)
c.136-9C= (n.136-9C=)
c.344-9C=
n.71-9C=
c.139-9C= (n.139-9C=)
c.4460-9C=
c.4918-9C= (n.4918-9C=)
c.2240-9C=
c.4642-9C= (n.4642-9C=)
c.4354-9C= (n.4354-9C=)
c.1882-9C= (n.1882-9C=)
19g.35729958C>TCA307792912KMT2Bc.4852-9C>T (n.4852-9C>T)
c.2459-9C>T (n.2459-9C>T)
c.136-9C>T (n.136-9C>T)
c.344-9C>T
n.71-9C>T
c.139-9C>T (n.139-9C>T)
c.4460-9C>T
c.4918-9C>T (n.4918-9C>T)
c.2240-9C>T
c.4642-9C>T (n.4642-9C>T)
c.4354-9C>T (n.4354-9C>T)
c.1882-9C>T (n.1882-9C>T)
dbSNP
19g.35729959C>GCA2584574695KMT2Bc.4852-8C>G (n.4852-8C>G)
c.2459-8C>G (n.2459-8C>G)
c.136-8C>G (n.136-8C>G)
c.344-8C>G
n.71-8C>G
c.139-8C>G (n.139-8C>G)
c.4460-8C>G
c.4918-8C>G (n.4918-8C>G)
c.2240-8C>G
c.4642-8C>G (n.4642-8C>G)
c.4354-8C>G (n.4354-8C>G)
c.1882-8C>G (n.1882-8C>G)
gnomAD v4
19g.35729960T>CCA9385255KMT2Bc.4852-7T>C (n.4852-7T>C)
c.2459-7T>C (n.2459-7T>C)
c.136-7T>C (n.136-7T>C)
c.344-7T>C
n.71-7T>C
c.139-7T>C (n.139-7T>C)
c.4460-7T>C
c.4918-7T>C (n.4918-7T>C)
c.2240-7T>C
c.4642-7T>C (n.4642-7T>C)
c.4354-7T>C (n.4354-7T>C)
c.1882-7T>C (n.1882-7T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35729960T=CA2333793068KMT2Bc.4852-7T= (n.4852-7T=)
c.2459-7T= (n.2459-7T=)
c.136-7T= (n.136-7T=)
c.344-7T=
n.71-7T=
c.139-7T= (n.139-7T=)
c.4460-7T=
c.4918-7T= (n.4918-7T=)
c.2240-7T=
c.4642-7T= (n.4642-7T=)
c.4354-7T= (n.4354-7T=)
c.1882-7T= (n.1882-7T=)
19g.35729961A=CA2333793069KMT2Bc.4852-6A= (n.4852-6A=)
c.2459-6A= (n.2459-6A=)
c.136-6A= (n.136-6A=)
c.344-6A=
n.71-6A=
c.139-6A= (n.139-6A=)
c.4460-6A=
c.4918-6A= (n.4918-6A=)
c.2240-6A=
c.4642-6A= (n.4642-6A=)
c.4354-6A= (n.4354-6A=)
c.1882-6A= (n.1882-6A=)
19g.35729961A>GCA307792919KMT2Bc.4852-6A>G (n.4852-6A>G)
c.2459-6A>G (n.2459-6A>G)
c.136-6A>G (n.136-6A>G)
c.344-6A>G
n.71-6A>G
c.139-6A>G (n.139-6A>G)
c.4460-6A>G
c.4918-6A>G (n.4918-6A>G)
c.2240-6A>G
c.4642-6A>G (n.4642-6A>G)
c.4354-6A>G (n.4354-6A>G)
c.1882-6A>G (n.1882-6A>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35729962C=CA2333793070KMT2Bc.4852-5C= (n.4852-5C=)
c.2459-5C= (n.2459-5C=)
c.136-5C= (n.136-5C=)
c.344-5C=
n.71-5C=
c.139-5C= (n.139-5C=)
c.4460-5C=
c.4918-5C= (n.4918-5C=)
c.2240-5C=
c.4642-5C= (n.4642-5C=)
c.4354-5C= (n.4354-5C=)
c.1882-5C= (n.1882-5C=)
19g.35729962C>TCA9385256KMT2Bc.4852-5C>T (n.4852-5C>T)
c.2459-5C>T (n.2459-5C>T)
c.136-5C>T (n.136-5C>T)
c.344-5C>T
n.71-5C>T
c.139-5C>T (n.139-5C>T)
c.4460-5C>T
c.4918-5C>T (n.4918-5C>T)
c.2240-5C>T
c.4642-5C>T (n.4642-5C>T)
c.4354-5C>T (n.4354-5C>T)
c.1882-5C>T (n.1882-5C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35729963G>ACA9385257KMT2Bc.4852-4G>A (n.4852-4G>A)
c.2459-4G>A (n.2459-4G>A)
c.136-4G>A (n.136-4G>A)
c.344-4G>A
n.71-4G>A
c.139-4G>A (n.139-4G>A)
c.4460-4G>A
c.4918-4G>A (n.4918-4G>A)
c.2240-4G>A
c.4642-4G>A (n.4642-4G>A)
c.4354-4G>A (n.4354-4G>A)
c.1882-4G>A (n.1882-4G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35729963G=CA2333793071KMT2Bc.4852-4G= (n.4852-4G=)
c.2459-4G= (n.2459-4G=)
c.136-4G= (n.136-4G=)
c.344-4G=
n.71-4G=
c.139-4G= (n.139-4G=)
c.4460-4G=
c.4918-4G= (n.4918-4G=)
c.2240-4G=
c.4642-4G= (n.4642-4G=)
c.4354-4G= (n.4354-4G=)
c.1882-4G= (n.1882-4G=)
19g.35729963G>TCA2584574696KMT2Bc.4852-4G>T (n.4852-4G>T)
c.2459-4G>T (n.2459-4G>T)
c.136-4G>T (n.136-4G>T)
c.344-4G>T
n.71-4G>T
c.139-4G>T (n.139-4G>T)
c.4460-4G>T
c.4918-4G>T (n.4918-4G>T)
c.2240-4G>T
c.4642-4G>T (n.4642-4G>T)
c.4354-4G>T (n.4354-4G>T)
c.1882-4G>T (n.1882-4G>T)
gnomAD v4
19g.35729964C>TCA2584574697KMT2Bc.4852-3C>T (n.4852-3C>T)
c.2459-3C>T (n.2459-3C>T)
c.136-3C>T (n.136-3C>T)
c.344-3C>T
n.71-3C>T
c.139-3C>T (n.139-3C>T)
c.4460-3C>T
c.4918-3C>T (n.4918-3C>T)
c.2240-3C>T
c.4642-3C>T (n.4642-3C>T)
c.4354-3C>T (n.4354-3C>T)
c.1882-3C>T (n.1882-3C>T)
gnomAD v4
19g.35729965A>CCA405418613KMT2Bc.4852-2A>C (n.4852-2A>C)
c.2459-2A>C (n.2459-2A>C)
c.136-2A>C (n.136-2A>C)
c.344-2A>C
n.71-2A>C
c.139-2A>C (n.139-2A>C)
c.4460-2A>C
c.4918-2A>C (n.4918-2A>C)
c.2240-2A>C
c.4642-2A>C (n.4642-2A>C)
c.4354-2A>C (n.4354-2A>C)
c.1882-2A>C (n.1882-2A>C)
19g.35729965A>GCA405418615KMT2Bc.4852-2A>G (n.4852-2A>G)
c.2459-2A>G (n.2459-2A>G)
c.136-2A>G (n.136-2A>G)
c.344-2A>G
n.71-2A>G
c.139-2A>G (n.139-2A>G)
c.4460-2A>G
c.4918-2A>G (n.4918-2A>G)
c.2240-2A>G
c.4642-2A>G (n.4642-2A>G)
c.4354-2A>G (n.4354-2A>G)
c.1882-2A>G (n.1882-2A>G)
19g.35729965A>TCA405418617KMT2Bc.4852-2A>T (n.4852-2A>T)
c.2459-2A>T (n.2459-2A>T)
c.136-2A>T (n.136-2A>T)
c.344-2A>T
n.71-2A>T
c.139-2A>T (n.139-2A>T)
c.4460-2A>T
c.4918-2A>T (n.4918-2A>T)
c.2240-2A>T
c.4642-2A>T (n.4642-2A>T)
c.4354-2A>T (n.4354-2A>T)
c.1882-2A>T (n.1882-2A>T)
19g.35729966G>ACA405418620KMT2Bc.4852-1G>A (n.4852-1G>A)
c.2459-1G>A (n.2459-1G>A)
c.136-1G>A (n.136-1G>A)
c.344-1G>A
n.71-1G>A
c.139-1G>A (n.139-1G>A)
c.4460-1G>A
c.4918-1G>A (n.4918-1G>A)
c.2240-1G>A
c.4642-1G>A (n.4642-1G>A)
c.4354-1G>A (n.4354-1G>A)
c.1882-1G>A (n.1882-1G>A)
ClinVar
19g.35729966G>CCA405418623KMT2Bc.4852-1G>C (n.4852-1G>C)
c.2459-1G>C (n.2459-1G>C)
c.136-1G>C (n.136-1G>C)
c.344-1G>C
n.71-1G>C
c.139-1G>C (n.139-1G>C)
c.4460-1G>C
c.4918-1G>C (n.4918-1G>C)
c.2240-1G>C
c.4642-1G>C (n.4642-1G>C)
c.4354-1G>C (n.4354-1G>C)
c.1882-1G>C (n.1882-1G>C)
19g.35729966G>TCA405418625KMT2Bc.4852-1G>T (n.4852-1G>T)
c.2459-1G>T (n.2459-1G>T)
c.136-1G>T (n.136-1G>T)
c.344-1G>T
n.71-1G>T
c.139-1G>T (n.139-1G>T)
c.4460-1G>T
c.4918-1G>T (n.4918-1G>T)
c.2240-1G>T
c.4642-1G>T (n.4642-1G>T)
c.4354-1G>T (n.4354-1G>T)
c.1882-1G>T (n.1882-1G>T)
19g.35729967C>ACA405418628KMT2Bc.4852C>A (p.Arg1618Ser)
c.2459C>A (n.2459C>A)
c.136C>A (p.Arg46Ser)
c.344C>A
n.71C>A
c.139C>A (p.Arg47Ser)
c.4460C>A
c.4918C>A (p.Arg1640Ser)
c.2240C>A
c.4642C>A (p.Arg1548Ser)
c.4354C>A (p.Arg1452Ser)
c.1882C>A (p.Arg628Ser)
19g.35729967C>GCA405418630KMT2Bc.4852C>G (p.Arg1618Gly)
c.2459C>G (n.2459C>G)
c.136C>G (p.Arg46Gly)
c.344C>G
n.71C>G
c.139C>G (p.Arg47Gly)
c.4460C>G
c.4918C>G (p.Arg1640Gly)
c.2240C>G
c.4642C>G (p.Arg1548Gly)
c.4354C>G (p.Arg1452Gly)
c.1882C>G (p.Arg628Gly)
19g.35729967C>TCA405418632KMT2Bc.4852C>T (p.Arg1618Cys)
c.2459C>T (n.2459C>T)
c.136C>T (p.Arg46Cys)
c.344C>T
n.71C>T
c.139C>T (p.Arg47Cys)
c.4460C>T
c.4918C>T (p.Arg1640Cys)
c.2240C>T
c.4642C>T (p.Arg1548Cys)
c.4354C>T (p.Arg1452Cys)
c.1882C>T (p.Arg628Cys)
gnomAD v4
19g.35729968G>ACA405418635KMT2Bc.4853G>A (p.Arg1618His)
c.2460G>A (n.2460G>A)
c.137G>A (p.Arg46His)
c.345G>A
n.72G>A
c.140G>A (p.Arg47His)
c.4461G>A
c.4919G>A (p.Arg1640His)
c.2241G>A
c.4643G>A (p.Arg1548His)
c.4355G>A (p.Arg1452His)
c.1883G>A (p.Arg628His)
dbSNP gnomAD v2
19g.35729968G>CCA405418637KMT2Bc.4853G>C (p.Arg1618Pro)
c.2460G>C (n.2460G>C)
c.137G>C (p.Arg46Pro)
c.345G>C
n.72G>C
c.140G>C (p.Arg47Pro)
c.4461G>C
c.4919G>C (p.Arg1640Pro)
c.2241G>C
c.4643G>C (p.Arg1548Pro)
c.4355G>C (p.Arg1452Pro)
c.1883G>C (p.Arg628Pro)
19g.35729968G=CA2333793072KMT2Bc.4853G= (p.Arg1618=)
c.2460G= (n.2460G=)
c.137G= (p.Arg46=)
c.345G=
n.72G=
c.140G= (p.Arg47=)
c.4461G=
c.4919G= (p.Arg1640=)
c.2241G=
c.4643G= (p.Arg1548=)
c.4355G= (p.Arg1452=)
c.1883G= (p.Arg628=)
19g.35729968G>TCA405418639KMT2Bc.4853G>T (p.Arg1618Leu)
c.2460G>T (n.2460G>T)
c.137G>T (p.Arg46Leu)
c.345G>T
n.72G>T
c.140G>T (p.Arg47Leu)
c.4461G>T
c.4919G>T (p.Arg1640Leu)
c.2241G>T
c.4643G>T (p.Arg1548Leu)
c.4355G>T (p.Arg1452Leu)
c.1883G>T (p.Arg628Leu)
19g.35729969C>ACA507072432KMT2Bc.4854C>A (p.Arg1618=)
c.2461C>A (n.2461C>A)
c.138C>A (p.Arg46=)
c.346C>A
n.73C>A
c.141C>A (p.Arg47=)
c.4462C>A
c.4920C>A (p.Arg1640=)
c.2242C>A
c.4644C>A (p.Arg1548=)
c.4356C>A (p.Arg1452=)
c.1884C>A (p.Arg628=)
19g.35729969C>GCA507072433KMT2Bc.4854C>G (p.Arg1618=)
c.2461C>G (n.2461C>G)
c.138C>G (p.Arg46=)
c.346C>G
n.73C>G
c.141C>G (p.Arg47=)
c.4462C>G
c.4920C>G (p.Arg1640=)
c.2242C>G
c.4644C>G (p.Arg1548=)
c.4356C>G (p.Arg1452=)
c.1884C>G (p.Arg628=)
19g.35729969C>TCA507072434KMT2Bc.4854C>T (p.Arg1618=)
c.2461C>T (n.2461C>T)
c.138C>T (p.Arg46=)
c.346C>T
n.73C>T
c.141C>T (p.Arg47=)
c.4462C>T
c.4920C>T (p.Arg1640=)
c.2242C>T
c.4644C>T (p.Arg1548=)
c.4356C>T (p.Arg1452=)
c.1884C>T (p.Arg628=)
19g.35729970T>ACA405418642KMT2Bc.4855T>A (p.Cys1619Ser)
c.2462T>A (n.2462T>A)
c.139T>A (p.Cys47Ser)
c.347T>A
n.74T>A
c.142T>A (p.Cys48Ser)
c.4463T>A
c.4921T>A (p.Cys1641Ser)
c.2243T>A
c.4645T>A (p.Cys1549Ser)
c.4357T>A (p.Cys1453Ser)
c.1885T>A (p.Cys629Ser)
19g.35729970T>CCA405418645KMT2Bc.4855T>C (p.Cys1619Arg)
c.2462T>C (n.2462T>C)
c.139T>C (p.Cys47Arg)
c.347T>C
n.74T>C
c.142T>C (p.Cys48Arg)
c.4463T>C
c.4921T>C (p.Cys1641Arg)
c.2243T>C
c.4645T>C (p.Cys1549Arg)
c.4357T>C (p.Cys1453Arg)
c.1885T>C (p.Cys629Arg)
19g.35729970T>GCA405418643KMT2Bc.4855T>G (p.Cys1619Gly)
c.2462T>G (n.2462T>G)
c.139T>G (p.Cys47Gly)
c.347T>G
n.74T>G
c.142T>G (p.Cys48Gly)
c.4463T>G
c.4921T>G (p.Cys1641Gly)
c.2243T>G
c.4645T>G (p.Cys1549Gly)
c.4357T>G (p.Cys1453Gly)
c.1885T>G (p.Cys629Gly)
19g.35729971G>ACA405418648KMT2Bc.4856G>A (p.Cys1619Tyr)
c.2463G>A (n.2463G>A)
c.140G>A (p.Cys47Tyr)
c.348G>A
n.75G>A
c.143G>A (p.Cys48Tyr)
c.4464G>A
c.4922G>A (p.Cys1641Tyr)
c.2244G>A
c.4646G>A (p.Cys1549Tyr)
c.4358G>A (p.Cys1453Tyr)
c.1886G>A (p.Cys629Tyr)
19g.35729971G>CCA405418652KMT2Bc.4856G>C (p.Cys1619Ser)
c.2463G>C (n.2463G>C)
c.140G>C (p.Cys47Ser)
c.348G>C
n.75G>C
c.143G>C (p.Cys48Ser)
c.4464G>C
c.4922G>C (p.Cys1641Ser)
c.2244G>C
c.4646G>C (p.Cys1549Ser)
c.4358G>C (p.Cys1453Ser)
c.1886G>C (p.Cys629Ser)
19g.35729971G>TCA405418650KMT2Bc.4856G>T (p.Cys1619Phe)
c.2463G>T (n.2463G>T)
c.140G>T (p.Cys47Phe)
c.348G>T
n.75G>T
c.143G>T (p.Cys48Phe)
c.4464G>T
c.4922G>T (p.Cys1641Phe)
c.2244G>T
c.4646G>T (p.Cys1549Phe)
c.4358G>T (p.Cys1453Phe)
c.1886G>T (p.Cys629Phe)
19g.35729972C>ACA405418655KMT2Bc.4857C>A (p.Cys1619Ter)
c.2464C>A (n.2464C>A)
c.141C>A (p.Cys47Ter)
c.349C>A
n.76C>A
c.144C>A (p.Cys48Ter)
c.4465C>A
c.4923C>A (p.Cys1641Ter)
c.2245C>A
c.4647C>A (p.Cys1549Ter)
c.4359C>A (p.Cys1453Ter)
c.1887C>A (p.Cys629Ter)
19g.35729972C=CA2333793073KMT2Bc.4857C= (p.Cys1619=)
c.2464C= (n.2464C=)
c.141C= (p.Cys47=)
c.349C=
n.76C=
c.144C= (p.Cys48=)
c.4465C=
c.4923C= (p.Cys1641=)
c.2245C=
c.4647C= (p.Cys1549=)
c.4359C= (p.Cys1453=)
c.1887C= (p.Cys629=)
19g.35729972C>GCA405418659KMT2Bc.4857C>G (p.Cys1619Trp)
c.2464C>G (n.2464C>G)
c.141C>G (p.Cys47Trp)
c.349C>G
n.76C>G
c.144C>G (p.Cys48Trp)
c.4465C>G
c.4923C>G (p.Cys1641Trp)
c.2245C>G
c.4647C>G (p.Cys1549Trp)
c.4359C>G (p.Cys1453Trp)
c.1887C>G (p.Cys629Trp)
19g.35729972C>TCA9385258KMT2Bc.4857C>T (p.Cys1619=)
c.2464C>T (n.2464C>T)
c.141C>T (p.Cys47=)
c.349C>T
n.76C>T
c.144C>T (p.Cys48=)
c.4465C>T
c.4923C>T (p.Cys1641=)
c.2245C>T
c.4647C>T (p.Cys1549=)
c.4359C>T (p.Cys1453=)
c.1887C>T (p.Cys629=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35729973G>ACA405418662KMT2Bc.4858G>A (p.Glu1620Lys)
c.2465G>A (n.2465G>A)
c.142G>A (p.Glu48Lys)
c.350G>A
n.77G>A
c.145G>A (p.Glu49Lys)
c.4466G>A
c.4924G>A (p.Glu1642Lys)
c.2246G>A
c.4648G>A (p.Glu1550Lys)
c.4360G>A (p.Glu1454Lys)
c.1888G>A (p.Glu630Lys)
dbSNP gnomAD v4
19g.35729973G>CCA405418663KMT2Bc.4858G>C (p.Glu1620Gln)
c.2465G>C (n.2465G>C)
c.142G>C (p.Glu48Gln)
c.350G>C
n.77G>C
c.145G>C (p.Glu49Gln)
c.4466G>C
c.4924G>C (p.Glu1642Gln)
c.2246G>C
c.4648G>C (p.Glu1550Gln)
c.4360G>C (p.Glu1454Gln)
c.1888G>C (p.Glu630Gln)
19g.35729973G=CA2333793074KMT2Bc.4858G= (p.Glu1620=)
c.2465G= (n.2465G=)
c.142G= (p.Glu48=)
c.350G=
n.77G=
c.145G= (p.Glu49=)
c.4466G=
c.4924G= (p.Glu1642=)
c.2246G=
c.4648G= (p.Glu1550=)
c.4360G= (p.Glu1454=)
c.1888G= (p.Glu630=)
19g.35729973G>TCA405418665KMT2Bc.4858G>T (p.Glu1620Ter)
c.2465G>T (n.2465G>T)
c.142G>T (p.Glu48Ter)
c.350G>T
n.77G>T
c.145G>T (p.Glu49Ter)
c.4466G>T
c.4924G>T (p.Glu1642Ter)
c.2246G>T
c.4648G>T (p.Glu1550Ter)
c.4360G>T (p.Glu1454Ter)
c.1888G>T (p.Glu630Ter)
19g.35729974A>CCA405418667KMT2Bc.4859A>C (p.Glu1620Ala)
c.2466A>C (n.2466A>C)
c.143A>C (p.Glu48Ala)
c.351A>C
n.78A>C
c.146A>C (p.Glu49Ala)
c.4467A>C
c.4925A>C (p.Glu1642Ala)
c.2247A>C
c.4649A>C (p.Glu1550Ala)
c.4361A>C (p.Glu1454Ala)
c.1889A>C (p.Glu630Ala)
19g.35729974A>GCA405418669KMT2Bc.4859A>G (p.Glu1620Gly)
c.2466A>G (n.2466A>G)
c.143A>G (p.Glu48Gly)
c.351A>G
n.78A>G
c.146A>G (p.Glu49Gly)
c.4467A>G
c.4925A>G (p.Glu1642Gly)
c.2247A>G
c.4649A>G (p.Glu1550Gly)
c.4361A>G (p.Glu1454Gly)
c.1889A>G (p.Glu630Gly)
19g.35729974A>TCA405418671KMT2Bc.4859A>T (p.Glu1620Val)
c.2466A>T (n.2466A>T)
c.143A>T (p.Glu48Val)
c.351A>T
n.78A>T
c.146A>T (p.Glu49Val)
c.4467A>T
c.4925A>T (p.Glu1642Val)
c.2247A>T
c.4649A>T (p.Glu1550Val)
c.4361A>T (p.Glu1454Val)
c.1889A>T (p.Glu630Val)
19g.35729975G>ACA507072439KMT2Bc.4860G>A (p.Glu1620=)
c.2467G>A (n.2467G>A)
c.144G>A (p.Glu48=)
c.352G>A
n.79G>A
c.147G>A (p.Glu49=)
c.4468G>A
c.4926G>A (p.Glu1642=)
c.2248G>A
c.4650G>A (p.Glu1550=)
c.4362G>A (p.Glu1454=)
c.1890G>A (p.Glu630=)
19g.35729975G>CCA405418673KMT2Bc.4860G>C (p.Glu1620Asp)
c.2467G>C (n.2467G>C)
c.144G>C (p.Glu48Asp)
c.352G>C
n.79G>C
c.147G>C (p.Glu49Asp)
c.4468G>C
c.4926G>C (p.Glu1642Asp)
c.2248G>C
c.4650G>C (p.Glu1550Asp)
c.4362G>C (p.Glu1454Asp)
c.1890G>C (p.Glu630Asp)
19g.35729975G>TCA405418675KMT2Bc.4860G>T (p.Glu1620Asp)
c.2467G>T (n.2467G>T)
c.144G>T (p.Glu48Asp)
c.352G>T
n.79G>T
c.147G>T (p.Glu49Asp)
c.4468G>T
c.4926G>T (p.Glu1642Asp)
c.2248G>T
c.4650G>T (p.Glu1550Asp)
c.4362G>T (p.Glu1454Asp)
c.1890G>T (p.Glu630Asp)
gnomAD v4
19g.35729976C>ACA405418678KMT2Bc.4861C>A (p.Leu1621Ile)
c.2468C>A (n.2468C>A)
c.145C>A (p.Leu49Ile)
c.353C>A
n.80C>A
c.148C>A (p.Leu50Ile)
c.4469C>A
c.4927C>A (p.Leu1643Ile)
c.2249C>A
c.4651C>A (p.Leu1551Ile)
c.4363C>A (p.Leu1455Ile)
c.1891C>A (p.Leu631Ile)
19g.35729976C>GCA405418680KMT2Bc.4861C>G (p.Leu1621Val)
c.2468C>G (n.2468C>G)
c.145C>G (p.Leu49Val)
c.353C>G
n.80C>G
c.148C>G (p.Leu50Val)
c.4469C>G
c.4927C>G (p.Leu1643Val)
c.2249C>G
c.4651C>G (p.Leu1551Val)
c.4363C>G (p.Leu1455Val)
c.1891C>G (p.Leu631Val)
19g.35729976C>TCA405418682KMT2Bc.4861C>T (p.Leu1621Phe)
c.2468C>T (n.2468C>T)
c.145C>T (p.Leu49Phe)
c.353C>T
n.80C>T
c.148C>T (p.Leu50Phe)
c.4469C>T
c.4927C>T (p.Leu1643Phe)
c.2249C>T
c.4651C>T (p.Leu1551Phe)
c.4363C>T (p.Leu1455Phe)
c.1891C>T (p.Leu631Phe)
19g.35729977T>ACA405418690KMT2Bc.4862T>A (p.Leu1621His)
c.2469T>A (n.2469T>A)
c.146T>A (p.Leu49His)
c.354T>A
n.81T>A
c.149T>A (p.Leu50His)
c.4470T>A
c.4928T>A (p.Leu1643His)
c.2250T>A
c.4652T>A (p.Leu1551His)
c.4364T>A (p.Leu1455His)
c.1892T>A (p.Leu631His)
19g.35729977T>CCA405418684KMT2Bc.4862T>C (p.Leu1621Pro)
c.2469T>C (n.2469T>C)
c.146T>C (p.Leu49Pro)
c.354T>C
n.81T>C
c.149T>C (p.Leu50Pro)
c.4470T>C
c.4928T>C (p.Leu1643Pro)
c.2250T>C
c.4652T>C (p.Leu1551Pro)
c.4364T>C (p.Leu1455Pro)
c.1892T>C (p.Leu631Pro)
19g.35729977T>GCA405418687KMT2Bc.4862T>G (p.Leu1621Arg)
c.2469T>G (n.2469T>G)
c.146T>G (p.Leu49Arg)
c.354T>G
n.81T>G
c.149T>G (p.Leu50Arg)
c.4470T>G
c.4928T>G (p.Leu1643Arg)
c.2250T>G
c.4652T>G (p.Leu1551Arg)
c.4364T>G (p.Leu1455Arg)
c.1892T>G (p.Leu631Arg)
19g.35729978C>ACA507072447KMT2Bc.4863C>A (p.Leu1621=)
c.2470C>A (n.2470C>A)
c.147C>A (p.Leu49=)
c.355C>A
n.82C>A
c.150C>A (p.Leu50=)
c.4471C>A
c.4929C>A (p.Leu1643=)
c.2251C>A
c.4653C>A (p.Leu1551=)
c.4365C>A (p.Leu1455=)
c.1893C>A (p.Leu631=)
19g.35729978C=CA2333793075KMT2Bc.4863C= (p.Leu1621=)
c.2470C= (n.2470C=)
c.147C= (p.Leu49=)
c.355C=
n.82C=
c.150C= (p.Leu50=)
c.4471C=
c.4929C= (p.Leu1643=)
c.2251C=
c.4653C= (p.Leu1551=)
c.4365C= (p.Leu1455=)
c.1893C= (p.Leu631=)
19g.35729978C>GCA507072449KMT2Bc.4863C>G (p.Leu1621=)
c.2470C>G (n.2470C>G)
c.147C>G (p.Leu49=)
c.355C>G
n.82C>G
c.150C>G (p.Leu50=)
c.4471C>G
c.4929C>G (p.Leu1643=)
c.2251C>G
c.4653C>G (p.Leu1551=)
c.4365C>G (p.Leu1455=)
c.1893C>G (p.Leu631=)
gnomAD v4
19g.35729978C>TCA507072451KMT2Bc.4863C>T (p.Leu1621=)
c.2470C>T (n.2470C>T)
c.147C>T (p.Leu49=)
c.355C>T
n.82C>T
c.150C>T (p.Leu50=)
c.4471C>T
c.4929C>T (p.Leu1643=)
c.2251C>T
c.4653C>T (p.Leu1551=)
c.4365C>T (p.Leu1455=)
c.1893C>T (p.Leu631=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.35729979T>ACA405418692KMT2Bc.4864T>A (p.Cys1622Ser)
c.2471T>A (n.2471T>A)
c.148T>A (p.Cys50Ser)
c.356T>A
n.83T>A
c.151T>A (p.Cys51Ser)
c.4472T>A
c.4930T>A (p.Cys1644Ser)
c.2252T>A
c.4654T>A (p.Cys1552Ser)
c.4366T>A (p.Cys1456Ser)
c.1894T>A (p.Cys632Ser)
19g.35729979T>CCA405418694KMT2Bc.4864T>C (p.Cys1622Arg)
c.2471T>C (n.2471T>C)
c.148T>C (p.Cys50Arg)
c.356T>C
n.83T>C
c.151T>C (p.Cys51Arg)
c.4472T>C
c.4930T>C (p.Cys1644Arg)
c.2252T>C
c.4654T>C (p.Cys1552Arg)
c.4366T>C (p.Cys1456Arg)
c.1894T>C (p.Cys632Arg)
19g.35729979T>GCA405418696KMT2Bc.4864T>G (p.Cys1622Gly)
c.2471T>G (n.2471T>G)
c.148T>G (p.Cys50Gly)
c.356T>G
n.83T>G
c.151T>G (p.Cys51Gly)
c.4472T>G
c.4930T>G (p.Cys1644Gly)
c.2252T>G
c.4654T>G (p.Cys1552Gly)
c.4366T>G (p.Cys1456Gly)
c.1894T>G (p.Cys632Gly)
19g.35729980G>ACA405418699KMT2Bc.4865G>A (p.Cys1622Tyr)
c.2472G>A (n.2472G>A)
c.149G>A (p.Cys50Tyr)
c.357G>A
n.84G>A
c.152G>A (p.Cys51Tyr)
c.4473G>A
c.4931G>A (p.Cys1644Tyr)
c.2253G>A
c.4655G>A (p.Cys1552Tyr)
c.4367G>A (p.Cys1456Tyr)
c.1895G>A (p.Cys632Tyr)
19g.35729980G>CCA405418700KMT2Bc.4865G>C (p.Cys1622Ser)
c.2472G>C (n.2472G>C)
c.149G>C (p.Cys50Ser)
c.357G>C
n.84G>C
c.152G>C (p.Cys51Ser)
c.4473G>C
c.4931G>C (p.Cys1644Ser)
c.2253G>C
c.4655G>C (p.Cys1552Ser)
c.4367G>C (p.Cys1456Ser)
c.1895G>C (p.Cys632Ser)
19g.35729980G=CA2333793076KMT2Bc.4865G= (p.Cys1622=)
c.2472G= (n.2472G=)
c.149G= (p.Cys50=)
c.357G=
n.84G=
c.152G= (p.Cys51=)
c.4473G=
c.4931G= (p.Cys1644=)
c.2253G=
c.4655G= (p.Cys1552=)
c.4367G= (p.Cys1456=)
c.1895G= (p.Cys632=)
19g.35729980G>TCA405418702KMT2Bc.4865G>T (p.Cys1622Phe)
c.2472G>T (n.2472G>T)
c.149G>T (p.Cys50Phe)
c.357G>T
n.84G>T
c.152G>T (p.Cys51Phe)
c.4473G>T
c.4931G>T (p.Cys1644Phe)
c.2253G>T
c.4655G>T (p.Cys1552Phe)
c.4367G>T (p.Cys1456Phe)
c.1895G>T (p.Cys632Phe)
ClinVar dbSNP
19g.35729981C>ACA405418704KMT2Bc.4866C>A (p.Cys1622Ter)
c.2473C>A (n.2473C>A)
c.150C>A (p.Cys50Ter)
c.358C>A
n.85C>A
c.153C>A (p.Cys51Ter)
c.4474C>A
c.4932C>A (p.Cys1644Ter)
c.2254C>A
c.4656C>A (p.Cys1552Ter)
c.4368C>A (p.Cys1456Ter)
c.1896C>A (p.Cys632Ter)
19g.35729981C>GCA405418706KMT2Bc.4866C>G (p.Cys1622Trp)
c.2473C>G (n.2473C>G)
c.150C>G (p.Cys50Trp)
c.358C>G
n.85C>G
c.153C>G (p.Cys51Trp)
c.4474C>G
c.4932C>G (p.Cys1644Trp)
c.2254C>G
c.4656C>G (p.Cys1552Trp)
c.4368C>G (p.Cys1456Trp)
c.1896C>G (p.Cys632Trp)
19g.35729981C>TCA507072458KMT2Bc.4866C>T (p.Cys1622=)
c.2473C>T (n.2473C>T)
c.150C>T (p.Cys50=)
c.358C>T
n.85C>T
c.153C>T (p.Cys51=)
c.4474C>T
c.4932C>T (p.Cys1644=)
c.2254C>T
c.4656C>T (p.Cys1552=)
c.4368C>T (p.Cys1456=)
c.1896C>T (p.Cys632=)
19g.35729982C>ACA405418708KMT2Bc.4867C>A (p.Leu1623Met)
c.2474C>A (n.2474C>A)
c.151C>A (p.Leu51Met)
c.359C>A
n.86C>A
c.154C>A (p.Leu52Met)
c.4475C>A
c.4933C>A (p.Leu1645Met)
c.2255C>A
c.4657C>A (p.Leu1553Met)
c.4369C>A (p.Leu1457Met)
c.1897C>A (p.Leu633Met)
19g.35729982C>GCA405418709KMT2Bc.4867C>G (p.Leu1623Val)
c.2474C>G (n.2474C>G)
c.151C>G (p.Leu51Val)
c.359C>G
n.86C>G
c.154C>G (p.Leu52Val)
c.4475C>G
c.4933C>G (p.Leu1645Val)
c.2255C>G
c.4657C>G (p.Leu1553Val)
c.4369C>G (p.Leu1457Val)
c.1897C>G (p.Leu633Val)
19g.35729982C>TCA507072463KMT2Bc.4867C>T (p.Leu1623=)
c.2474C>T (n.2474C>T)
c.151C>T (p.Leu51=)
c.359C>T
n.86C>T
c.154C>T (p.Leu52=)
c.4475C>T
c.4933C>T (p.Leu1645=)
c.2255C>T
c.4657C>T (p.Leu1553=)
c.4369C>T (p.Leu1457=)
c.1897C>T (p.Leu633=)
19g.35729983T>ACA405418714KMT2Bc.4868T>A (p.Leu1623Gln)
c.2475T>A (n.2475T>A)
c.152T>A (p.Leu51Gln)
c.360T>A
n.87T>A
c.155T>A (p.Leu52Gln)
c.4476T>A
c.4934T>A (p.Leu1645Gln)
c.2256T>A
c.4658T>A (p.Leu1553Gln)
c.4370T>A (p.Leu1457Gln)
c.1898T>A (p.Leu633Gln)
19g.35729983T>CCA405418716KMT2Bc.4868T>C (p.Leu1623Pro)
c.2475T>C (n.2475T>C)
c.152T>C (p.Leu51Pro)
c.360T>C
n.87T>C
c.155T>C (p.Leu52Pro)
c.4476T>C
c.4934T>C (p.Leu1645Pro)
c.2256T>C
c.4658T>C (p.Leu1553Pro)
c.4370T>C (p.Leu1457Pro)
c.1898T>C (p.Leu633Pro)
19g.35729983T>GCA405418712KMT2Bc.4868T>G (p.Leu1623Arg)
c.2475T>G (n.2475T>G)
c.152T>G (p.Leu51Arg)
c.360T>G
n.87T>G
c.155T>G (p.Leu52Arg)
c.4476T>G
c.4934T>G (p.Leu1645Arg)
c.2256T>G
c.4658T>G (p.Leu1553Arg)
c.4370T>G (p.Leu1457Arg)
c.1898T>G (p.Leu633Arg)
19g.35729984G>ACA507072468KMT2Bc.4869G>A (p.Leu1623=)
c.2476G>A (n.2476G>A)
c.153G>A (p.Leu51=)
c.361G>A
n.88G>A
c.156G>A (p.Leu52=)
c.4477G>A
c.4935G>A (p.Leu1645=)
c.2257G>A
c.4659G>A (p.Leu1553=)
c.4371G>A (p.Leu1457=)
c.1899G>A (p.Leu633=)
dbSNP gnomAD v3 gnomAD v4
19g.35729984G>CCA507072469KMT2Bc.4869G>C (p.Leu1623=)
c.2476G>C (n.2476G>C)
c.153G>C (p.Leu51=)
c.361G>C
n.88G>C
c.156G>C (p.Leu52=)
c.4477G>C
c.4935G>C (p.Leu1645=)
c.2257G>C
c.4659G>C (p.Leu1553=)
c.4371G>C (p.Leu1457=)
c.1899G>C (p.Leu633=)
19g.35729984G=CA2333793077KMT2Bc.4869G= (p.Leu1623=)
c.2476G= (n.2476G=)
c.153G= (p.Leu51=)
c.361G=
n.88G=
c.156G= (p.Leu52=)
c.4477G=
c.4935G= (p.Leu1645=)
c.2257G=
c.4659G= (p.Leu1553=)
c.4371G= (p.Leu1457=)
c.1899G= (p.Leu633=)
19g.35729984G>TCA507072470KMT2Bc.4869G>T (p.Leu1623=)
c.2476G>T (n.2476G>T)
c.153G>T (p.Leu51=)
c.361G>T
n.88G>T
c.156G>T (p.Leu52=)
c.4477G>T
c.4935G>T (p.Leu1645=)
c.2257G>T
c.4659G>T (p.Leu1553=)
c.4371G>T (p.Leu1457=)
c.1899G>T (p.Leu633=)
19g.35729985A>CCA405418718KMT2Bc.4870A>C (p.Lys1624Gln)
c.2477A>C (n.2477A>C)
c.154A>C (p.Lys52Gln)
c.362A>C
n.89A>C
c.157A>C (p.Lys53Gln)
c.4478A>C
c.4936A>C (p.Lys1646Gln)
c.2258A>C
c.4660A>C (p.Lys1554Gln)
c.4372A>C (p.Lys1458Gln)
c.1900A>C (p.Lys634Gln)
19g.35729985A>GCA405418720KMT2Bc.4870A>G (p.Lys1624Glu)
c.2477A>G (n.2477A>G)
c.154A>G (p.Lys52Glu)
c.362A>G
n.89A>G
c.157A>G (p.Lys53Glu)
c.4478A>G
c.4936A>G (p.Lys1646Glu)
c.2258A>G
c.4660A>G (p.Lys1554Glu)
c.4372A>G (p.Lys1458Glu)
c.1900A>G (p.Lys634Glu)
19g.35729985A>TCA405418722KMT2Bc.4870A>T (p.Lys1624Ter)
c.2477A>T (n.2477A>T)
c.154A>T (p.Lys52Ter)
c.362A>T
n.89A>T
c.157A>T (p.Lys53Ter)
c.4478A>T
c.4936A>T (p.Lys1646Ter)
c.2258A>T
c.4660A>T (p.Lys1554Ter)
c.4372A>T (p.Lys1458Ter)
c.1900A>T (p.Lys634Ter)
19g.35729986A>CCA405418724KMT2Bc.4871A>C (p.Lys1624Thr)
c.2478A>C (n.2478A>C)
c.155A>C (p.Lys52Thr)
c.363A>C
n.90A>C
c.158A>C (p.Lys53Thr)
c.4479A>C
c.4937A>C (p.Lys1646Thr)
c.2259A>C
c.4661A>C (p.Lys1554Thr)
c.4373A>C (p.Lys1458Thr)
c.1901A>C (p.Lys634Thr)
19g.35729986A>GCA405418725KMT2Bc.4871A>G (p.Lys1624Arg)
c.2478A>G (n.2478A>G)
c.155A>G (p.Lys52Arg)
c.363A>G
n.90A>G
c.158A>G (p.Lys53Arg)
c.4479A>G
c.4937A>G (p.Lys1646Arg)
c.2259A>G
c.4661A>G (p.Lys1554Arg)
c.4373A>G (p.Lys1458Arg)
c.1901A>G (p.Lys634Arg)
19g.35729986A>TCA405418726KMT2Bc.4871A>T (p.Lys1624Met)
c.2478A>T (n.2478A>T)
c.155A>T (p.Lys52Met)
c.363A>T
n.90A>T
c.158A>T (p.Lys53Met)
c.4479A>T
c.4937A>T (p.Lys1646Met)
c.2259A>T
c.4661A>T (p.Lys1554Met)
c.4373A>T (p.Lys1458Met)
c.1901A>T (p.Lys634Met)
19g.35729987G>ACA507072475KMT2Bc.4872G>A (p.Lys1624=)
c.2479G>A (n.2479G>A)
c.156G>A (p.Lys52=)
c.364G>A
n.91G>A
c.159G>A (p.Lys53=)
c.4480G>A
c.4938G>A (p.Lys1646=)
c.2260G>A
c.4662G>A (p.Lys1554=)
c.4374G>A (p.Lys1458=)
c.1902G>A (p.Lys634=)
19g.35729987G>CCA405418727KMT2Bc.4872G>C (p.Lys1624Asn)
c.2479G>C (n.2479G>C)
c.156G>C (p.Lys52Asn)
c.364G>C
n.91G>C
c.159G>C (p.Lys53Asn)
c.4480G>C
c.4938G>C (p.Lys1646Asn)
c.2260G>C
c.4662G>C (p.Lys1554Asn)
c.4374G>C (p.Lys1458Asn)
c.1902G>C (p.Lys634Asn)
19g.35729987G>TCA405418728KMT2Bc.4872G>T (p.Lys1624Asn)
c.2479G>T (n.2479G>T)
c.156G>T (p.Lys52Asn)
c.364G>T
n.91G>T
c.159G>T (p.Lys53Asn)
c.4480G>T
c.4938G>T (p.Lys1646Asn)
c.2260G>T
c.4662G>T (p.Lys1554Asn)
c.4374G>T (p.Lys1458Asn)
c.1902G>T (p.Lys634Asn)
19g.35729988C>ACA9385259KMT2Bc.4873C>A (p.Pro1625Thr)
c.2480C>A (n.2480C>A)
c.157C>A (p.Pro53Thr)
c.365C>A
n.92C>A
c.160C>A (p.Pro54Thr)
c.4481C>A
c.4939C>A (p.Pro1647Thr)
c.2261C>A
c.4663C>A (p.Pro1555Thr)
c.4375C>A (p.Pro1459Thr)
c.1903C>A (p.Pro635Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35729988C=CA2333793078KMT2Bc.4873C= (p.Pro1625=)
c.2480C= (n.2480C=)
c.157C= (p.Pro53=)
c.365C=
n.92C=
c.160C= (p.Pro54=)
c.4481C=
c.4939C= (p.Pro1647=)
c.2261C=
c.4663C= (p.Pro1555=)
c.4375C= (p.Pro1459=)
c.1903C= (p.Pro635=)
19g.35729988C>GCA405418731KMT2Bc.4873C>G (p.Pro1625Ala)
c.2480C>G (n.2480C>G)
c.157C>G (p.Pro53Ala)
c.365C>G
n.92C>G
c.160C>G (p.Pro54Ala)
c.4481C>G
c.4939C>G (p.Pro1647Ala)
c.2261C>G
c.4663C>G (p.Pro1555Ala)
c.4375C>G (p.Pro1459Ala)
c.1903C>G (p.Pro635Ala)
19g.35729988C>TCA405418733KMT2Bc.4873C>T (p.Pro1625Ser)
c.2480C>T (n.2480C>T)
c.157C>T (p.Pro53Ser)
c.365C>T
n.92C>T
c.160C>T (p.Pro54Ser)
c.4481C>T
c.4939C>T (p.Pro1647Ser)
c.2261C>T
c.4663C>T (p.Pro1555Ser)
c.4375C>T (p.Pro1459Ser)
c.1903C>T (p.Pro635Ser)
19g.35729989C>ACA405418735KMT2Bc.4874C>A (p.Pro1625His)
c.2481C>A (n.2481C>A)
c.158C>A (p.Pro53His)
c.366C>A
n.93C>A
c.161C>A (p.Pro54His)
c.4482C>A
c.4940C>A (p.Pro1647His)
c.2262C>A
c.4664C>A (p.Pro1555His)
c.4376C>A (p.Pro1459His)
c.1904C>A (p.Pro635His)
19g.35729989C>GCA405418737KMT2Bc.4874C>G (p.Pro1625Arg)
c.2481C>G (n.2481C>G)
c.158C>G (p.Pro53Arg)
c.366C>G
n.93C>G
c.161C>G (p.Pro54Arg)
c.4482C>G
c.4940C>G (p.Pro1647Arg)
c.2262C>G
c.4664C>G (p.Pro1555Arg)
c.4376C>G (p.Pro1459Arg)
c.1904C>G (p.Pro635Arg)
19g.35729989C>TCA405418738KMT2Bc.4874C>T (p.Pro1625Leu)
c.2481C>T (n.2481C>T)
c.158C>T (p.Pro53Leu)
c.366C>T
n.93C>T
c.161C>T (p.Pro54Leu)
c.4482C>T
c.4940C>T (p.Pro1647Leu)
c.2262C>T
c.4664C>T (p.Pro1555Leu)
c.4376C>T (p.Pro1459Leu)
c.1904C>T (p.Pro635Leu)
19g.35729990T>ACA507072486KMT2Bc.4875T>A (p.Pro1625=)
c.2482T>A (n.2482T>A)
c.159T>A (p.Pro53=)
c.367T>A
n.94T>A
c.162T>A (p.Pro54=)
c.4483T>A
c.4941T>A (p.Pro1647=)
c.2263T>A
c.4665T>A (p.Pro1555=)
c.4377T>A (p.Pro1459=)
c.1905T>A (p.Pro635=)
19g.35729990T>CCA9385260KMT2Bc.4875T>C (p.Pro1625=)
c.2482T>C (n.2482T>C)
c.159T>C (p.Pro53=)
c.367T>C
n.94T>C
c.162T>C (p.Pro54=)
c.4483T>C
c.4941T>C (p.Pro1647=)
c.2263T>C
c.4665T>C (p.Pro1555=)
c.4377T>C (p.Pro1459=)
c.1905T>C (p.Pro635=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35729990T>GCA507072490KMT2Bc.4875T>G (p.Pro1625=)
c.2482T>G (n.2482T>G)
c.159T>G (p.Pro53=)
c.367T>G
n.94T>G
c.162T>G (p.Pro54=)
c.4483T>G
c.4941T>G (p.Pro1647=)
c.2263T>G
c.4665T>G (p.Pro1555=)
c.4377T>G (p.Pro1459=)
c.1905T>G (p.Pro635=)
19g.35729990T=CA2333793079KMT2Bc.4875T= (p.Pro1625=)
c.2482T= (n.2482T=)
c.159T= (p.Pro53=)
c.367T=
n.94T=
c.162T= (p.Pro54=)
c.4483T=
c.4941T= (p.Pro1647=)
c.2263T=
c.4665T= (p.Pro1555=)
c.4377T= (p.Pro1459=)
c.1905T= (p.Pro635=)
19g.35729991G>ACA405418743KMT2Bc.4876G>A (p.Gly1626Ser)
c.2483G>A (n.2483G>A)
c.160G>A (p.Gly54Ser)
c.368G>A
n.95G>A
c.163G>A (p.Gly55Ser)
c.4484G>A
c.4942G>A (p.Gly1648Ser)
c.2264G>A
c.4666G>A (p.Gly1556Ser)
c.4378G>A (p.Gly1460Ser)
c.1906G>A (p.Gly636Ser)
19g.35729991G>CCA405418744KMT2Bc.4876G>C (p.Gly1626Arg)
c.2483G>C (n.2483G>C)
c.160G>C (p.Gly54Arg)
c.368G>C
n.95G>C
c.163G>C (p.Gly55Arg)
c.4484G>C
c.4942G>C (p.Gly1648Arg)
c.2264G>C
c.4666G>C (p.Gly1556Arg)
c.4378G>C (p.Gly1460Arg)
c.1906G>C (p.Gly636Arg)
19g.35729991G>TCA405418746KMT2Bc.4876G>T (p.Gly1626Cys)
c.2483G>T (n.2483G>T)
c.160G>T (p.Gly54Cys)
c.368G>T
n.95G>T
c.163G>T (p.Gly55Cys)
c.4484G>T
c.4942G>T (p.Gly1648Cys)
c.2264G>T
c.4666G>T (p.Gly1556Cys)
c.4378G>T (p.Gly1460Cys)
c.1906G>T (p.Gly636Cys)
19g.35729992G>ACA405418748KMT2Bc.4877G>A (p.Gly1626Asp)
c.2484G>A (n.2484G>A)
c.161G>A (p.Gly54Asp)
c.369G>A
n.96G>A
c.164G>A (p.Gly55Asp)
c.4485G>A
c.4943G>A (p.Gly1648Asp)
c.2265G>A
c.4667G>A (p.Gly1556Asp)
c.4379G>A (p.Gly1460Asp)
c.1907G>A (p.Gly636Asp)
19g.35729992G>CCA405418750KMT2Bc.4877G>C (p.Gly1626Ala)
c.2484G>C (n.2484G>C)
c.161G>C (p.Gly54Ala)
c.369G>C
n.96G>C
c.164G>C (p.Gly55Ala)
c.4485G>C
c.4943G>C (p.Gly1648Ala)
c.2265G>C
c.4667G>C (p.Gly1556Ala)
c.4379G>C (p.Gly1460Ala)
c.1907G>C (p.Gly636Ala)
19g.35729992G>TCA405418752KMT2Bc.4877G>T (p.Gly1626Val)
c.2484G>T (n.2484G>T)
c.161G>T (p.Gly54Val)
c.369G>T
n.96G>T
c.164G>T (p.Gly55Val)
c.4485G>T
c.4943G>T (p.Gly1648Val)
c.2265G>T
c.4667G>T (p.Gly1556Val)
c.4379G>T (p.Gly1460Val)
c.1907G>T (p.Gly636Val)
19g.35729993C>ACA507072498KMT2Bc.4878C>A (p.Gly1626=)
c.2485C>A (n.2485C>A)
c.162C>A (p.Gly54=)
c.370C>A
n.97C>A
c.165C>A (p.Gly55=)
c.4486C>A
c.4944C>A (p.Gly1648=)
c.2266C>A
c.4668C>A (p.Gly1556=)
c.4380C>A (p.Gly1460=)
c.1908C>A (p.Gly636=)
19g.35729993C=CA2333793080KMT2Bc.4878C= (p.Gly1626=)
c.2485C= (n.2485C=)
c.162C= (p.Gly54=)
c.370C=
n.97C=
c.165C= (p.Gly55=)
c.4486C=
c.4944C= (p.Gly1648=)
c.2266C=
c.4668C= (p.Gly1556=)
c.4380C= (p.Gly1460=)
c.1908C= (p.Gly636=)
19g.35729993C>GCA507072499KMT2Bc.4878C>G (p.Gly1626=)
c.2485C>G (n.2485C>G)
c.162C>G (p.Gly54=)
c.370C>G
n.97C>G
c.165C>G (p.Gly55=)
c.4486C>G
c.4944C>G (p.Gly1648=)
c.2266C>G
c.4668C>G (p.Gly1556=)
c.4380C>G (p.Gly1460=)
c.1908C>G (p.Gly636=)
19g.35729993C>TCA9385261KMT2Bc.4878C>T (p.Gly1626=)
c.2485C>T (n.2485C>T)
c.162C>T (p.Gly54=)
c.370C>T
n.97C>T
c.165C>T (p.Gly55=)
c.4486C>T
c.4944C>T (p.Gly1648=)
c.2266C>T
c.4668C>T (p.Gly1556=)
c.4380C>T (p.Gly1460=)
c.1908C>T (p.Gly636=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35729994G>ACA405418756KMT2Bc.4879G>A (p.Ala1627Thr)
c.2486G>A (n.2486G>A)
c.163G>A (p.Ala55Thr)
c.371G>A
n.98G>A
c.166G>A (p.Ala56Thr)
c.4487G>A
c.4945G>A (p.Ala1649Thr)
c.2267G>A
c.4669G>A (p.Ala1557Thr)
c.4381G>A (p.Ala1461Thr)
c.1909G>A (p.Ala637Thr)
19g.35729994G>CCA405418758KMT2Bc.4879G>C (p.Ala1627Pro)
c.2486G>C (n.2486G>C)
c.163G>C (p.Ala55Pro)
c.371G>C
n.98G>C
c.166G>C (p.Ala56Pro)
c.4487G>C
c.4945G>C (p.Ala1649Pro)
c.2267G>C
c.4669G>C (p.Ala1557Pro)
c.4381G>C (p.Ala1461Pro)
c.1909G>C (p.Ala637Pro)
19g.35729994G>TCA405418759KMT2Bc.4879G>T (p.Ala1627Ser)
c.2486G>T (n.2486G>T)
c.163G>T (p.Ala55Ser)
c.371G>T
n.98G>T
c.166G>T (p.Ala56Ser)
c.4487G>T
c.4945G>T (p.Ala1649Ser)
c.2267G>T
c.4669G>T (p.Ala1557Ser)
c.4381G>T (p.Ala1461Ser)
c.1909G>T (p.Ala637Ser)
19g.35729995C>ACA405418762KMT2Bc.4880C>A (p.Ala1627Asp)
c.2487C>A (n.2487C>A)
c.164C>A (p.Ala55Asp)
c.372C>A
n.99C>A
c.167C>A (p.Ala56Asp)
c.4488C>A
c.4946C>A (p.Ala1649Asp)
c.2268C>A
c.4670C>A (p.Ala1557Asp)
c.4382C>A (p.Ala1461Asp)
c.1910C>A (p.Ala637Asp)
19g.35729995C>GCA405418764KMT2Bc.4880C>G (p.Ala1627Gly)
c.2487C>G (n.2487C>G)
c.164C>G (p.Ala55Gly)
c.372C>G
n.99C>G
c.167C>G (p.Ala56Gly)
c.4488C>G
c.4946C>G (p.Ala1649Gly)
c.2268C>G
c.4670C>G (p.Ala1557Gly)
c.4382C>G (p.Ala1461Gly)
c.1910C>G (p.Ala637Gly)
19g.35729995C>TCA405418765KMT2Bc.4880C>T (p.Ala1627Val)
c.2487C>T (n.2487C>T)
c.164C>T (p.Ala55Val)
c.372C>T
n.99C>T
c.167C>T (p.Ala56Val)
c.4488C>T
c.4946C>T (p.Ala1649Val)
c.2268C>T
c.4670C>T (p.Ala1557Val)
c.4382C>T (p.Ala1461Val)
c.1910C>T (p.Ala637Val)
19g.35729996C>ACA507072504KMT2Bc.4881C>A (p.Ala1627=)
c.2488C>A (n.2488C>A)
c.165C>A (p.Ala55=)
c.373C>A
n.100C>A
c.168C>A (p.Ala56=)
c.4489C>A
c.4947C>A (p.Ala1649=)
c.2269C>A
c.4671C>A (p.Ala1557=)
c.4383C>A (p.Ala1461=)
c.1911C>A (p.Ala637=)
19g.35729996C=CA2333793081KMT2Bc.4881C= (p.Ala1627=)
c.2488C= (n.2488C=)
c.165C= (p.Ala55=)
c.373C=
n.100C=
c.168C= (p.Ala56=)
c.4489C=
c.4947C= (p.Ala1649=)
c.2269C=
c.4671C= (p.Ala1557=)
c.4383C= (p.Ala1461=)
c.1911C= (p.Ala637=)
19g.35729996C>GCA507072505KMT2Bc.4881C>G (p.Ala1627=)
c.2488C>G (n.2488C>G)
c.165C>G (p.Ala55=)
c.373C>G
n.100C>G
c.168C>G (p.Ala56=)
c.4489C>G
c.4947C>G (p.Ala1649=)
c.2269C>G
c.4671C>G (p.Ala1557=)
c.4383C>G (p.Ala1461=)
c.1911C>G (p.Ala637=)
dbSNP gnomAD v4
19g.35729996C>TCA507072508KMT2Bc.4881C>T (p.Ala1627=)
c.2488C>T (n.2488C>T)
c.165C>T (p.Ala55=)
c.373C>T
n.100C>T
c.168C>T (p.Ala56=)
c.4489C>T
c.4947C>T (p.Ala1649=)
c.2269C>T
c.4671C>T (p.Ala1557=)
c.4383C>T (p.Ala1461=)
c.1911C>T (p.Ala637=)
19g.35729997A=CA2333793082KMT2Bc.4882A= (p.Thr1628=)
c.2489A= (n.2489A=)
c.166A= (p.Thr56=)
c.374A=
n.101A=
c.169A= (p.Thr57=)
c.4490A=
c.4948A= (p.Thr1650=)
c.2270A=
c.4672A= (p.Thr1558=)
c.4384A= (p.Thr1462=)
c.1912A= (p.Thr638=)
19g.35729997A>CCA405418771KMT2Bc.4882A>C (p.Thr1628Pro)
c.2489A>C (n.2489A>C)
c.166A>C (p.Thr56Pro)
c.374A>C
n.101A>C
c.169A>C (p.Thr57Pro)
c.4490A>C
c.4948A>C (p.Thr1650Pro)
c.2270A>C
c.4672A>C (p.Thr1558Pro)
c.4384A>C (p.Thr1462Pro)
c.1912A>C (p.Thr638Pro)
19g.35729997A>GCA405418769KMT2Bc.4882A>G (p.Thr1628Ala)
c.2489A>G (n.2489A>G)
c.166A>G (p.Thr56Ala)
c.374A>G
n.101A>G
c.169A>G (p.Thr57Ala)
c.4490A>G
c.4948A>G (p.Thr1650Ala)
c.2270A>G
c.4672A>G (p.Thr1558Ala)
c.4384A>G (p.Thr1462Ala)
c.1912A>G (p.Thr638Ala)
dbSNP gnomAD v2
19g.35729997A>TCA405418767KMT2Bc.4882A>T (p.Thr1628Ser)
c.2489A>T (n.2489A>T)
c.166A>T (p.Thr56Ser)
c.374A>T
n.101A>T
c.169A>T (p.Thr57Ser)
c.4490A>T
c.4948A>T (p.Thr1650Ser)
c.2270A>T
c.4672A>T (p.Thr1558Ser)
c.4384A>T (p.Thr1462Ser)
c.1912A>T (p.Thr638Ser)
19g.35729998C>ACA405418773KMT2Bc.4883C>A (p.Thr1628Lys)
c.2490C>A (n.2490C>A)
c.167C>A (p.Thr56Lys)
c.375C>A
n.102C>A
c.170C>A (p.Thr57Lys)
c.4491C>A
c.4949C>A (p.Thr1650Lys)
c.2271C>A
c.4673C>A (p.Thr1558Lys)
c.4385C>A (p.Thr1462Lys)
c.1913C>A (p.Thr638Lys)
19g.35729998C=CA2333793083KMT2Bc.4883C= (p.Thr1628=)
c.2490C= (n.2490C=)
c.167C= (p.Thr56=)
c.375C=
n.102C=
c.170C= (p.Thr57=)
c.4491C=
c.4949C= (p.Thr1650=)
c.2271C=
c.4673C= (p.Thr1558=)
c.4385C= (p.Thr1462=)
c.1913C= (p.Thr638=)
19g.35729998C>GCA405418778KMT2Bc.4883C>G (p.Thr1628Arg)
c.2490C>G (n.2490C>G)
c.167C>G (p.Thr56Arg)
c.375C>G
n.102C>G
c.170C>G (p.Thr57Arg)
c.4491C>G
c.4949C>G (p.Thr1650Arg)
c.2271C>G
c.4673C>G (p.Thr1558Arg)
c.4385C>G (p.Thr1462Arg)
c.1913C>G (p.Thr638Arg)
19g.35729998C>TCA405418776KMT2Bc.4883C>T (p.Thr1628Met)
c.2490C>T (n.2490C>T)
c.167C>T (p.Thr56Met)
c.375C>T
n.102C>T
c.170C>T (p.Thr57Met)
c.4491C>T
c.4949C>T (p.Thr1650Met)
c.2271C>T
c.4673C>T (p.Thr1558Met)
c.4385C>T (p.Thr1462Met)
c.1913C>T (p.Thr638Met)
ClinVar dbSNP COSMIC
19g.35729999G>ACA9385262KMT2Bc.4884G>A (p.Thr1628=)
c.2491G>A (n.2491G>A)
c.168G>A (p.Thr56=)
c.376G>A
n.103G>A
c.171G>A (p.Thr57=)
c.4492G>A
c.4950G>A (p.Thr1650=)
c.2272G>A
c.4674G>A (p.Thr1558=)
c.4386G>A (p.Thr1462=)
c.1914G>A (p.Thr638=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35729999G>CCA507072511KMT2Bc.4884G>C (p.Thr1628=)
c.2491G>C (n.2491G>C)
c.168G>C (p.Thr56=)
c.376G>C
n.103G>C
c.171G>C (p.Thr57=)
c.4492G>C
c.4950G>C (p.Thr1650=)
c.2272G>C
c.4674G>C (p.Thr1558=)
c.4386G>C (p.Thr1462=)
c.1914G>C (p.Thr638=)
19g.35729999G=CA2333793084KMT2Bc.4884G= (p.Thr1628=)
c.2491G= (n.2491G=)
c.168G= (p.Thr56=)
c.376G=
n.103G=
c.171G= (p.Thr57=)
c.4492G=
c.4950G= (p.Thr1650=)
c.2272G=
c.4674G= (p.Thr1558=)
c.4386G= (p.Thr1462=)
c.1914G= (p.Thr638=)
19g.35729999G>TCA9385263KMT2Bc.4884G>T (p.Thr1628=)
c.2491G>T (n.2491G>T)
c.168G>T (p.Thr56=)
c.376G>T
n.103G>T
c.171G>T (p.Thr57=)
c.4492G>T
c.4950G>T (p.Thr1650=)
c.2272G>T
c.4674G>T (p.Thr1558=)
c.4386G>T (p.Thr1462=)
c.1914G>T (p.Thr638=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35730000G>ACA405418784KMT2Bc.4885G>A (p.Val1629Met)
c.2492G>A (n.2492G>A)
c.169G>A (p.Val57Met)
c.377G>A
n.104G>A
c.172G>A (p.Val58Met)
c.4493G>A
c.4951G>A (p.Val1651Met)
c.2273G>A
c.4675G>A (p.Val1559Met)
c.4387G>A (p.Val1463Met)
c.1915G>A (p.Val639Met)
19g.35730000G>CCA405418787KMT2Bc.4885G>C (p.Val1629Leu)
c.2492G>C (n.2492G>C)
c.169G>C (p.Val57Leu)
c.377G>C
n.104G>C
c.172G>C (p.Val58Leu)
c.4493G>C
c.4951G>C (p.Val1651Leu)
c.2273G>C
c.4675G>C (p.Val1559Leu)
c.4387G>C (p.Val1463Leu)
c.1915G>C (p.Val639Leu)
19g.35730000G>TCA405418789KMT2Bc.4885G>T (p.Val1629Leu)
c.2492G>T (n.2492G>T)
c.169G>T (p.Val57Leu)
c.377G>T
n.104G>T
c.172G>T (p.Val58Leu)
c.4493G>T
c.4951G>T (p.Val1651Leu)
c.2273G>T
c.4675G>T (p.Val1559Leu)
c.4387G>T (p.Val1463Leu)
c.1915G>T (p.Val639Leu)
19g.35730001T>ACA405418791KMT2Bc.4886T>A (p.Val1629Glu)
c.2493T>A (n.2493T>A)
c.170T>A (p.Val57Glu)
c.378T>A
n.105T>A
c.173T>A (p.Val58Glu)
c.4494T>A
c.4952T>A (p.Val1651Glu)
c.2274T>A
c.4676T>A (p.Val1559Glu)
c.4388T>A (p.Val1463Glu)
c.1916T>A (p.Val639Glu)
19g.35730001T>CCA405418793KMT2Bc.4886T>C (p.Val1629Ala)
c.2493T>C (n.2493T>C)
c.170T>C (p.Val57Ala)
c.378T>C
n.105T>C
c.173T>C (p.Val58Ala)
c.4494T>C
c.4952T>C (p.Val1651Ala)
c.2274T>C
c.4676T>C (p.Val1559Ala)
c.4388T>C (p.Val1463Ala)
c.1916T>C (p.Val639Ala)
19g.35730001T>GCA405418795KMT2Bc.4886T>G (p.Val1629Gly)
c.2493T>G (n.2493T>G)
c.170T>G (p.Val57Gly)
c.378T>G
n.105T>G
c.173T>G (p.Val58Gly)
c.4494T>G
c.4952T>G (p.Val1651Gly)
c.2274T>G
c.4676T>G (p.Val1559Gly)
c.4388T>G (p.Val1463Gly)
c.1916T>G (p.Val639Gly)
19g.35730002G>ACA9385264KMT2Bc.4887G>A (p.Val1629=)
c.2494G>A (n.2494G>A)
c.171G>A (p.Val57=)
c.379G>A
n.106G>A
c.174G>A (p.Val58=)
c.4495G>A
c.4953G>A (p.Val1651=)
c.2275G>A
c.4677G>A (p.Val1559=)
c.4389G>A (p.Val1463=)
c.1917G>A (p.Val639=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35730002G>CCA507072523KMT2Bc.4887G>C (p.Val1629=)
c.2494G>C (n.2494G>C)
c.171G>C (p.Val57=)
c.379G>C
n.106G>C
c.174G>C (p.Val58=)
c.4495G>C
c.4953G>C (p.Val1651=)
c.2275G>C
c.4677G>C (p.Val1559=)
c.4389G>C (p.Val1463=)
c.1917G>C (p.Val639=)
19g.35730002G=CA2333793085KMT2Bc.4887G= (p.Val1629=)
c.2494G= (n.2494G=)
c.171G= (p.Val57=)
c.379G=
n.106G=
c.174G= (p.Val58=)
c.4495G=
c.4953G= (p.Val1651=)
c.2275G=
c.4677G= (p.Val1559=)
c.4389G= (p.Val1463=)
c.1917G= (p.Val639=)
19g.35730002G>TCA507072520KMT2Bc.4887G>T (p.Val1629=)
c.2494G>T (n.2494G>T)
c.171G>T (p.Val57=)
c.379G>T
n.106G>T
c.174G>T (p.Val58=)
c.4495G>T
c.4953G>T (p.Val1651=)
c.2275G>T
c.4677G>T (p.Val1559=)
c.4389G>T (p.Val1463=)
c.1917G>T (p.Val639=)
dbSNP gnomAD v3 gnomAD v4
19g.35730003G>ACA405418800KMT2Bc.4888G>A (p.Gly1630Ser)
c.2495G>A (n.2495G>A)
c.172G>A (p.Gly58Ser)
c.380G>A
n.107G>A
c.175G>A (p.Gly59Ser)
c.4496G>A
c.4954G>A (p.Gly1652Ser)
c.2276G>A
c.4678G>A (p.Gly1560Ser)
c.4390G>A (p.Gly1464Ser)
c.1918G>A (p.Gly640Ser)
19g.35730003G>CCA405418802KMT2Bc.4888G>C (p.Gly1630Arg)
c.2495G>C (n.2495G>C)
c.172G>C (p.Gly58Arg)
c.380G>C
n.107G>C
c.175G>C (p.Gly59Arg)
c.4496G>C
c.4954G>C (p.Gly1652Arg)
c.2276G>C
c.4678G>C (p.Gly1560Arg)
c.4390G>C (p.Gly1464Arg)
c.1918G>C (p.Gly640Arg)
19g.35730003G>TCA405418804KMT2Bc.4888G>T (p.Gly1630Cys)
c.2495G>T (n.2495G>T)
c.172G>T (p.Gly58Cys)
c.380G>T
n.107G>T
c.175G>T (p.Gly59Cys)
c.4496G>T
c.4954G>T (p.Gly1652Cys)
c.2276G>T
c.4678G>T (p.Gly1560Cys)
c.4390G>T (p.Gly1464Cys)
c.1918G>T (p.Gly640Cys)
19g.35730004G>ACA405418811KMT2Bc.4889G>A (p.Gly1630Asp)
c.2496G>A (n.2496G>A)
c.173G>A (p.Gly58Asp)
c.381G>A
n.108G>A
c.176G>A (p.Gly59Asp)
c.4497G>A
c.4955G>A (p.Gly1652Asp)
c.2277G>A
c.4679G>A (p.Gly1560Asp)
c.4391G>A (p.Gly1464Asp)
c.1919G>A (p.Gly640Asp)
ClinVar dbSNP gnomAD v4
19g.35730004G>CCA405418807KMT2Bc.4889G>C (p.Gly1630Ala)
c.2496G>C (n.2496G>C)
c.173G>C (p.Gly58Ala)
c.381G>C
n.108G>C
c.176G>C (p.Gly59Ala)
c.4497G>C
c.4955G>C (p.Gly1652Ala)
c.2277G>C
c.4679G>C (p.Gly1560Ala)
c.4391G>C (p.Gly1464Ala)
c.1919G>C (p.Gly640Ala)
19g.35730004G=CA2333793086KMT2Bc.4889G= (p.Gly1630=)
c.2496G= (n.2496G=)
c.173G= (p.Gly58=)
c.381G=
n.108G=
c.176G= (p.Gly59=)
c.4497G=
c.4955G= (p.Gly1652=)
c.2277G=
c.4679G= (p.Gly1560=)
c.4391G= (p.Gly1464=)
c.1919G= (p.Gly640=)
19g.35730004G>TCA405418809KMT2Bc.4889G>T (p.Gly1630Val)
c.2496G>T (n.2496G>T)
c.173G>T (p.Gly58Val)
c.381G>T
n.108G>T
c.176G>T (p.Gly59Val)
c.4497G>T
c.4955G>T (p.Gly1652Val)
c.2277G>T
c.4679G>T (p.Gly1560Val)
c.4391G>T (p.Gly1464Val)
c.1919G>T (p.Gly640Val)
19g.35730005C>ACA507072537KMT2Bc.4890C>A (p.Gly1630=)
c.2497C>A (n.2497C>A)
c.174C>A (p.Gly58=)
c.382C>A
n.109C>A
c.177C>A (p.Gly59=)
c.4498C>A
c.4956C>A (p.Gly1652=)
c.2278C>A
c.4680C>A (p.Gly1560=)
c.4392C>A (p.Gly1464=)
c.1920C>A (p.Gly640=)
19g.35730005C>GCA507072533KMT2Bc.4890C>G (p.Gly1630=)
c.2497C>G (n.2497C>G)
c.174C>G (p.Gly58=)
c.382C>G
n.109C>G
c.177C>G (p.Gly59=)
c.4498C>G
c.4956C>G (p.Gly1652=)
c.2278C>G
c.4680C>G (p.Gly1560=)
c.4392C>G (p.Gly1464=)
c.1920C>G (p.Gly640=)
gnomAD v4
19g.35730005C>TCA507072536KMT2Bc.4890C>T (p.Gly1630=)
c.2497C>T (n.2497C>T)
c.174C>T (p.Gly58=)
c.382C>T
n.109C>T
c.177C>T (p.Gly59=)
c.4498C>T
c.4956C>T (p.Gly1652=)
c.2278C>T
c.4680C>T (p.Gly1560=)
c.4392C>T (p.Gly1464=)
c.1920C>T (p.Gly640=)
19g.35730006T>ACA405418814KMT2Bc.4891T>A (p.Cys1631Ser)
c.2498T>A (n.2498T>A)
c.175T>A (p.Cys59Ser)
c.383T>A
n.110T>A
c.178T>A (p.Cys60Ser)
c.4499T>A
c.4957T>A (p.Cys1653Ser)
c.2279T>A
c.4681T>A (p.Cys1561Ser)
c.4393T>A (p.Cys1465Ser)
c.1921T>A (p.Cys641Ser)
19g.35730006T>CCA405418816KMT2Bc.4891T>C (p.Cys1631Arg)
c.2498T>C (n.2498T>C)
c.175T>C (p.Cys59Arg)
c.383T>C
n.110T>C
c.178T>C (p.Cys60Arg)
c.4499T>C
c.4957T>C (p.Cys1653Arg)
c.2279T>C
c.4681T>C (p.Cys1561Arg)
c.4393T>C (p.Cys1465Arg)
c.1921T>C (p.Cys641Arg)
19g.35730006T>GCA405418818KMT2Bc.4891T>G (p.Cys1631Gly)
c.2498T>G (n.2498T>G)
c.175T>G (p.Cys59Gly)
c.383T>G
n.110T>G
c.178T>G (p.Cys60Gly)
c.4499T>G
c.4957T>G (p.Cys1653Gly)
c.2279T>G
c.4681T>G (p.Cys1561Gly)
c.4393T>G (p.Cys1465Gly)
c.1921T>G (p.Cys641Gly)
19g.35730007G>ACA405418821KMT2Bc.4892G>A (p.Cys1631Tyr)
c.2499G>A (n.2499G>A)
c.176G>A (p.Cys59Tyr)
c.384G>A
n.111G>A
c.179G>A (p.Cys60Tyr)
c.4500G>A
c.4958G>A (p.Cys1653Tyr)
c.2280G>A
c.4682G>A (p.Cys1561Tyr)
c.4394G>A (p.Cys1465Tyr)
c.1922G>A (p.Cys641Tyr)
COSMIC
19g.35730007G>CCA405418823KMT2Bc.4892G>C (p.Cys1631Ser)
c.2499G>C (n.2499G>C)
c.176G>C (p.Cys59Ser)
c.384G>C
n.111G>C
c.179G>C (p.Cys60Ser)
c.4500G>C
c.4958G>C (p.Cys1653Ser)
c.2280G>C
c.4682G>C (p.Cys1561Ser)
c.4394G>C (p.Cys1465Ser)
c.1922G>C (p.Cys641Ser)
19g.35730007G>TCA405418825KMT2Bc.4892G>T (p.Cys1631Phe)
c.2499G>T (n.2499G>T)
c.176G>T (p.Cys59Phe)
c.384G>T
n.111G>T
c.179G>T (p.Cys60Phe)
c.4500G>T
c.4958G>T (p.Cys1653Phe)
c.2280G>T
c.4682G>T (p.Cys1561Phe)
c.4394G>T (p.Cys1465Phe)
c.1922G>T (p.Cys641Phe)
19g.35730008C>ACA405418827KMT2Bc.4893C>A (p.Cys1631Ter)
c.2500C>A (n.2500C>A)
c.177C>A (p.Cys59Ter)
c.385C>A
n.112C>A
c.180C>A (p.Cys60Ter)
c.4501C>A
c.4959C>A (p.Cys1653Ter)
c.2281C>A
c.4683C>A (p.Cys1561Ter)
c.4395C>A (p.Cys1465Ter)
c.1923C>A (p.Cys641Ter)
19g.35730008C>GCA405418829KMT2Bc.4893C>G (p.Cys1631Trp)
c.2500C>G (n.2500C>G)
c.177C>G (p.Cys59Trp)
c.385C>G
n.112C>G
c.180C>G (p.Cys60Trp)
c.4501C>G
c.4959C>G (p.Cys1653Trp)
c.2281C>G
c.4683C>G (p.Cys1561Trp)
c.4395C>G (p.Cys1465Trp)
c.1923C>G (p.Cys641Trp)
19g.35730008C>TCA507072544KMT2Bc.4893C>T (p.Cys1631=)
c.2500C>T (n.2500C>T)
c.177C>T (p.Cys59=)
c.385C>T
n.112C>T
c.180C>T (p.Cys60=)
c.4501C>T
c.4959C>T (p.Cys1653=)
c.2281C>T
c.4683C>T (p.Cys1561=)
c.4395C>T (p.Cys1465=)
c.1923C>T (p.Cys641=)
gnomAD v4
19g.35730009T>ACA405418831KMT2Bc.4894T>A (p.Cys1632Ser)
c.2501T>A (n.2501T>A)
c.178T>A (p.Cys60Ser)
c.386T>A
n.113T>A
c.181T>A (p.Cys61Ser)
c.4502T>A
c.4960T>A (p.Cys1654Ser)
c.2282T>A
c.4684T>A (p.Cys1562Ser)
c.4396T>A (p.Cys1466Ser)
c.1924T>A (p.Cys642Ser)
COSMIC
19g.35730009T>CCA405418832KMT2Bc.4894T>C (p.Cys1632Arg)
c.2501T>C (n.2501T>C)
c.178T>C (p.Cys60Arg)
c.386T>C
n.113T>C
c.181T>C (p.Cys61Arg)
c.4502T>C
c.4960T>C (p.Cys1654Arg)
c.2282T>C
c.4684T>C (p.Cys1562Arg)
c.4396T>C (p.Cys1466Arg)
c.1924T>C (p.Cys642Arg)
ClinVar dbSNP
19g.35730009T>GCA405418834KMT2Bc.4894T>G (p.Cys1632Gly)
c.2501T>G (n.2501T>G)
c.178T>G (p.Cys60Gly)
c.386T>G
n.113T>G
c.181T>G (p.Cys61Gly)
c.4502T>G
c.4960T>G (p.Cys1654Gly)
c.2282T>G
c.4684T>G (p.Cys1562Gly)
c.4396T>G (p.Cys1466Gly)
c.1924T>G (p.Cys642Gly)
19g.35730009T=CA2333793087KMT2Bc.4894T= (p.Cys1632=)
c.2501T= (n.2501T=)
c.178T= (p.Cys60=)
c.386T=
n.113T=
c.181T= (p.Cys61=)
c.4502T=
c.4960T= (p.Cys1654=)
c.2282T=
c.4684T= (p.Cys1562=)
c.4396T= (p.Cys1466=)
c.1924T= (p.Cys642=)
19g.35730010G>ACA405418841KMT2Bc.4895G>A (p.Cys1632Tyr)
c.2502G>A (n.2502G>A)
c.179G>A (p.Cys60Tyr)
c.387G>A
n.114G>A
c.182G>A (p.Cys61Tyr)
c.4503G>A
c.4961G>A (p.Cys1654Tyr)
c.2283G>A
c.4685G>A (p.Cys1562Tyr)
c.4397G>A (p.Cys1466Tyr)
c.1925G>A (p.Cys642Tyr)
19g.35730010G>CCA405418839KMT2Bc.4895G>C (p.Cys1632Ser)
c.2502G>C (n.2502G>C)
c.179G>C (p.Cys60Ser)
c.387G>C
n.114G>C
c.182G>C (p.Cys61Ser)
c.4503G>C
c.4961G>C (p.Cys1654Ser)
c.2283G>C
c.4685G>C (p.Cys1562Ser)
c.4397G>C (p.Cys1466Ser)
c.1925G>C (p.Cys642Ser)
19g.35730010G>TCA405418837KMT2Bc.4895G>T (p.Cys1632Phe)
c.2502G>T (n.2502G>T)
c.179G>T (p.Cys60Phe)
c.387G>T
n.114G>T
c.182G>T (p.Cys61Phe)
c.4503G>T
c.4961G>T (p.Cys1654Phe)
c.2283G>T
c.4685G>T (p.Cys1562Phe)
c.4397G>T (p.Cys1466Phe)
c.1925G>T (p.Cys642Phe)
19g.35730011C>ACA405418843KMT2Bc.4896C>A (p.Cys1632Ter)
c.2503C>A (n.2503C>A)
c.180C>A (p.Cys60Ter)
c.388C>A
n.115C>A
c.183C>A (p.Cys61Ter)
c.4504C>A
c.4962C>A (p.Cys1654Ter)
c.2284C>A
c.4686C>A (p.Cys1562Ter)
c.4398C>A (p.Cys1466Ter)
c.1926C>A (p.Cys642Ter)
19g.35730011C=CA2333793088KMT2Bc.4896C= (p.Cys1632=)
c.2503C= (n.2503C=)
c.180C= (p.Cys60=)
c.388C=
n.115C=
c.183C= (p.Cys61=)
c.4504C=
c.4962C= (p.Cys1654=)
c.2284C=
c.4686C= (p.Cys1562=)
c.4398C= (p.Cys1466=)
c.1926C= (p.Cys642=)
19g.35730011C>GCA405418845KMT2Bc.4896C>G (p.Cys1632Trp)
c.2503C>G (n.2503C>G)
c.180C>G (p.Cys60Trp)
c.388C>G
n.115C>G
c.183C>G (p.Cys61Trp)
c.4504C>G
c.4962C>G (p.Cys1654Trp)
c.2284C>G
c.4686C>G (p.Cys1562Trp)
c.4398C>G (p.Cys1466Trp)
c.1926C>G (p.Cys642Trp)
19g.35730011C>TCA9385265KMT2Bc.4896C>T (p.Cys1632=)
c.2503C>T (n.2503C>T)
c.180C>T (p.Cys60=)
c.388C>T
n.115C>T
c.183C>T (p.Cys61=)
c.4504C>T
c.4962C>T (p.Cys1654=)
c.2284C>T
c.4686C>T (p.Cys1562=)
c.4398C>T (p.Cys1466=)
c.1926C>T (p.Cys642=)
dbSNP ExAC gnomAD v3 gnomAD v4
19g.35730012C>ACA405418849KMT2Bc.4897C>A (p.Leu1633Met)
c.2504C>A (n.2504C>A)
c.181C>A (p.Leu61Met)
c.389C>A
n.116C>A
c.184C>A (p.Leu62Met)
c.4505C>A
c.4963C>A (p.Leu1655Met)
c.2285C>A
c.4687C>A (p.Leu1563Met)
c.4399C>A (p.Leu1467Met)
c.1927C>A (p.Leu643Met)
19g.35730012C=CA2333793089KMT2Bc.4897C= (p.Leu1633=)
c.2504C= (n.2504C=)
c.181C= (p.Leu61=)
c.389C=
n.116C=
c.184C= (p.Leu62=)
c.4505C=
c.4963C= (p.Leu1655=)
c.2285C=
c.4687C= (p.Leu1563=)
c.4399C= (p.Leu1467=)
c.1927C= (p.Leu643=)
19g.35730012C>GCA405418851KMT2Bc.4897C>G (p.Leu1633Val)
c.2504C>G (n.2504C>G)
c.181C>G (p.Leu61Val)
c.389C>G
n.116C>G
c.184C>G (p.Leu62Val)
c.4505C>G
c.4963C>G (p.Leu1655Val)
c.2285C>G
c.4687C>G (p.Leu1563Val)
c.4399C>G (p.Leu1467Val)
c.1927C>G (p.Leu643Val)
19g.35730012C>TCA507072555KMT2Bc.4897C>T (p.Leu1633=)
c.2504C>T (n.2504C>T)
c.181C>T (p.Leu61=)
c.389C>T
n.116C>T
c.184C>T (p.Leu62=)
c.4505C>T
c.4963C>T (p.Leu1655=)
c.2285C>T
c.4687C>T (p.Leu1563=)
c.4399C>T (p.Leu1467=)
c.1927C>T (p.Leu643=)
dbSNP gnomAD v2
19g.35730013T>ACA405418854KMT2Bc.4898T>A (p.Leu1633Gln)
c.2505T>A (n.2505T>A)
c.182T>A (p.Leu61Gln)
c.390T>A
n.117T>A
c.185T>A (p.Leu62Gln)
c.4506T>A
c.4964T>A (p.Leu1655Gln)
c.2286T>A
c.4688T>A (p.Leu1563Gln)
c.4400T>A (p.Leu1467Gln)
c.1928T>A (p.Leu643Gln)
COSMIC
19g.35730013T>CCA405418856KMT2Bc.4898T>C (p.Leu1633Pro)
c.2505T>C (n.2505T>C)
c.182T>C (p.Leu61Pro)
c.390T>C
n.117T>C
c.185T>C (p.Leu62Pro)
c.4506T>C
c.4964T>C (p.Leu1655Pro)
c.2286T>C
c.4688T>C (p.Leu1563Pro)
c.4400T>C (p.Leu1467Pro)
c.1928T>C (p.Leu643Pro)
19g.35730013T>GCA405418858KMT2Bc.4898T>G (p.Leu1633Arg)
c.2505T>G (n.2505T>G)
c.182T>G (p.Leu61Arg)
c.390T>G
n.117T>G
c.185T>G (p.Leu62Arg)
c.4506T>G
c.4964T>G (p.Leu1655Arg)
c.2286T>G
c.4688T>G (p.Leu1563Arg)
c.4400T>G (p.Leu1467Arg)
c.1928T>G (p.Leu643Arg)
19g.35730014G>ACA507072561KMT2Bc.4899G>A (p.Leu1633=)
c.2506G>A (n.2506G>A)
c.183G>A (p.Leu61=)
c.391G>A
n.118G>A
c.186G>A (p.Leu62=)
c.4507G>A
c.4965G>A (p.Leu1655=)
c.2287G>A
c.4689G>A (p.Leu1563=)
c.4401G>A (p.Leu1467=)
c.1929G>A (p.Leu643=)
19g.35730014G>CCA507072563KMT2Bc.4899G>C (p.Leu1633=)
c.2506G>C (n.2506G>C)
c.183G>C (p.Leu61=)
c.391G>C
n.118G>C
c.186G>C (p.Leu62=)
c.4507G>C
c.4965G>C (p.Leu1655=)
c.2287G>C
c.4689G>C (p.Leu1563=)
c.4401G>C (p.Leu1467=)
c.1929G>C (p.Leu643=)
19g.35730014G>TCA507072565KMT2Bc.4899G>T (p.Leu1633=)
c.2506G>T (n.2506G>T)
c.183G>T (p.Leu61=)
c.391G>T
n.118G>T
c.186G>T (p.Leu62=)
c.4507G>T
c.4965G>T (p.Leu1655=)
c.2287G>T
c.4689G>T (p.Leu1563=)
c.4401G>T (p.Leu1467=)
c.1929G>T (p.Leu643=)
19g.35730014_35730017delinsGTCCCA2333793090KMT2Bc.4899_4902delinsGTCC (p.Leu1633=)
c.2506_2509delinsGTCC (n.2506_2509delinsGTCC)
c.183_186delinsGTCC (p.Leu61=)
c.391_394delinsGTCC
n.118_121delinsGTCC
c.186_189delinsGTCC (p.Leu62=)
c.4507_4510delinsGTCC
c.4965_4968delinsGTCC (p.Leu1655=)
c.2287_2290delinsGTCC
c.4689_4692delinsGTCC (p.Leu1563=)
c.4401_4404delinsGTCC (p.Leu1467=)
c.1929_1932delinsGTCC (p.Leu643=)
19g.35730015T>ACA405418859KMT2Bc.4900T>A (p.Ser1634Thr)
c.2507T>A (n.2507T>A)
c.184T>A (p.Ser62Thr)
c.392T>A
n.119T>A
c.187T>A (p.Ser63Thr)
c.4508T>A
c.4966T>A (p.Ser1656Thr)
c.2288T>A
c.4690T>A (p.Ser1564Thr)
c.4402T>A (p.Ser1468Thr)
c.1930T>A (p.Ser644Thr)
19g.35730015T>CCA405418861KMT2Bc.4900T>C (p.Ser1634Pro)
c.2507T>C (n.2507T>C)
c.184T>C (p.Ser62Pro)
c.392T>C
n.119T>C
c.187T>C (p.Ser63Pro)
c.4508T>C
c.4966T>C (p.Ser1656Pro)
c.2288T>C
c.4690T>C (p.Ser1564Pro)
c.4402T>C (p.Ser1468Pro)
c.1930T>C (p.Ser644Pro)
19g.35730015T>GCA405418863KMT2Bc.4900T>G (p.Ser1634Ala)
c.2507T>G (n.2507T>G)
c.184T>G (p.Ser62Ala)
c.392T>G
n.119T>G
c.187T>G (p.Ser63Ala)
c.4508T>G
c.4966T>G (p.Ser1656Ala)
c.2288T>G
c.4690T>G (p.Ser1564Ala)
c.4402T>G (p.Ser1468Ala)
c.1930T>G (p.Ser644Ala)
19g.35730019_35730021delCA920100903KMT2Bc.4904_4906del (p.Ser1635del)
c.2511_2513del (n.2511_2513del)
c.188_190del (p.Ser63del)
c.396_398del
n.123_125del
c.191_193del (p.Ser64del)
c.4512_4514del
c.4970_4972del (p.Ser1657del)
c.2292_2294del
c.4694_4696del (p.Ser1565del)
c.4406_4408del (p.Ser1469del)
c.1934_1936del (p.Ser645del)
dbSNP
19g.35730016C>ACA405418865KMT2Bc.4901C>A (p.Ser1634Tyr)
c.2508C>A (n.2508C>A)
c.185C>A (p.Ser62Tyr)
c.393C>A
n.120C>A
c.188C>A (p.Ser63Tyr)
c.4509C>A
c.4967C>A (p.Ser1656Tyr)
c.2289C>A
c.4691C>A (p.Ser1564Tyr)
c.4403C>A (p.Ser1468Tyr)
c.1931C>A (p.Ser644Tyr)
19g.35730016C>GCA405418868KMT2Bc.4901C>G (p.Ser1634Cys)
c.2508C>G (n.2508C>G)
c.185C>G (p.Ser62Cys)
c.393C>G
n.120C>G
c.188C>G (p.Ser63Cys)
c.4509C>G
c.4967C>G (p.Ser1656Cys)
c.2289C>G
c.4691C>G (p.Ser1564Cys)
c.4403C>G (p.Ser1468Cys)
c.1931C>G (p.Ser644Cys)
19g.35730016C>TCA405418870KMT2Bc.4901C>T (p.Ser1634Phe)
c.2508C>T (n.2508C>T)
c.185C>T (p.Ser62Phe)
c.393C>T
n.120C>T
c.188C>T (p.Ser63Phe)
c.4509C>T
c.4967C>T (p.Ser1656Phe)
c.2289C>T
c.4691C>T (p.Ser1564Phe)
c.4403C>T (p.Ser1468Phe)
c.1931C>T (p.Ser644Phe)
gnomAD v4
19g.35730017C>ACA507072572KMT2Bc.4902C>A (p.Ser1634=)
c.2509C>A (n.2509C>A)
c.186C>A (p.Ser62=)
c.394C>A
n.121C>A
c.189C>A (p.Ser63=)
c.4510C>A
c.4968C>A (p.Ser1656=)
c.2290C>A
c.4692C>A (p.Ser1564=)
c.4404C>A (p.Ser1468=)
c.1932C>A (p.Ser644=)
19g.35730017C=CA2333793091KMT2Bc.4902C= (p.Ser1634=)
c.2509C= (n.2509C=)
c.186C= (p.Ser62=)
c.394C=
n.121C=
c.189C= (p.Ser63=)
c.4510C=
c.4968C= (p.Ser1656=)
c.2290C=
c.4692C= (p.Ser1564=)
c.4404C= (p.Ser1468=)
c.1932C= (p.Ser644=)
19g.35730017C>GCA9385267KMT2Bc.4902C>G (p.Ser1634=)
c.2509C>G (n.2509C>G)
c.186C>G (p.Ser62=)
c.394C>G
n.121C>G
c.189C>G (p.Ser63=)
c.4510C>G
c.4968C>G (p.Ser1656=)
c.2290C>G
c.4692C>G (p.Ser1564=)
c.4404C>G (p.Ser1468=)
c.1932C>G (p.Ser644=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35730017C>TCA9385266KMT2Bc.4902C>T (p.Ser1634=)
c.2509C>T (n.2509C>T)
c.186C>T (p.Ser62=)
c.394C>T
n.121C>T
c.189C>T (p.Ser63=)
c.4510C>T
c.4968C>T (p.Ser1656=)
c.2290C>T
c.4692C>T (p.Ser1564=)
c.4404C>T (p.Ser1468=)
c.1932C>T (p.Ser644=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35730018T>ACA405418877KMT2Bc.4903T>A (p.Ser1635Thr)
c.2510T>A (n.2510T>A)
c.187T>A (p.Ser63Thr)
c.395T>A
n.122T>A
c.190T>A (p.Ser64Thr)
c.4511T>A
c.4969T>A (p.Ser1657Thr)
c.2291T>A
c.4693T>A (p.Ser1565Thr)
c.4405T>A (p.Ser1469Thr)
c.1933T>A (p.Ser645Thr)
19g.35730018T>CCA405418879KMT2Bc.4903T>C (p.Ser1635Pro)
c.2510T>C (n.2510T>C)
c.187T>C (p.Ser63Pro)
c.395T>C
n.122T>C
c.190T>C (p.Ser64Pro)
c.4511T>C
c.4969T>C (p.Ser1657Pro)
c.2291T>C
c.4693T>C (p.Ser1565Pro)
c.4405T>C (p.Ser1469Pro)
c.1933T>C (p.Ser645Pro)
19g.35730018T>GCA405418881KMT2Bc.4903T>G (p.Ser1635Ala)
c.2510T>G (n.2510T>G)
c.187T>G (p.Ser63Ala)
c.395T>G
n.122T>G
c.190T>G (p.Ser64Ala)
c.4511T>G
c.4969T>G (p.Ser1657Ala)
c.2291T>G
c.4693T>G (p.Ser1565Ala)
c.4405T>G (p.Ser1469Ala)
c.1933T>G (p.Ser645Ala)
19g.35730019C>ACA405418884KMT2Bc.4904C>A (p.Ser1635Tyr)
c.2511C>A (n.2511C>A)
c.188C>A (p.Ser63Tyr)
c.396C>A
n.123C>A
c.191C>A (p.Ser64Tyr)
c.4512C>A
c.4970C>A (p.Ser1657Tyr)
c.2292C>A
c.4694C>A (p.Ser1565Tyr)
c.4406C>A (p.Ser1469Tyr)
c.1934C>A (p.Ser645Tyr)
19g.35730019C>GCA405418886KMT2Bc.4904C>G (p.Ser1635Cys)
c.2511C>G (n.2511C>G)
c.188C>G (p.Ser63Cys)
c.396C>G
n.123C>G
c.191C>G (p.Ser64Cys)
c.4512C>G
c.4970C>G (p.Ser1657Cys)
c.2292C>G
c.4694C>G (p.Ser1565Cys)
c.4406C>G (p.Ser1469Cys)
c.1934C>G (p.Ser645Cys)
19g.35730019C>TCA405418888KMT2Bc.4904C>T (p.Ser1635Phe)
c.2511C>T (n.2511C>T)
c.188C>T (p.Ser63Phe)
c.396C>T
n.123C>T
c.191C>T (p.Ser64Phe)
c.4512C>T
c.4970C>T (p.Ser1657Phe)
c.2292C>T
c.4694C>T (p.Ser1565Phe)
c.4406C>T (p.Ser1469Phe)
c.1934C>T (p.Ser645Phe)
19g.35730020C>ACA507072576KMT2Bc.4905C>A (p.Ser1635=)
c.2512C>A (n.2512C>A)
c.189C>A (p.Ser63=)
c.397C>A
n.124C>A
c.192C>A (p.Ser64=)
c.4513C>A
c.4971C>A (p.Ser1657=)
c.2293C>A
c.4695C>A (p.Ser1565=)
c.4407C>A (p.Ser1469=)
c.1935C>A (p.Ser645=)
19g.35730020C=CA2333793092KMT2Bc.4905C= (p.Ser1635=)
c.2512C= (n.2512C=)
c.189C= (p.Ser63=)
c.397C=
n.124C=
c.192C= (p.Ser64=)
c.4513C=
c.4971C= (p.Ser1657=)
c.2293C=
c.4695C= (p.Ser1565=)
c.4407C= (p.Ser1469=)
c.1935C= (p.Ser645=)
19g.35730020C>GCA307792946KMT2Bc.4905C>G (p.Ser1635=)
c.2512C>G (n.2512C>G)
c.189C>G (p.Ser63=)
c.397C>G
n.124C>G
c.192C>G (p.Ser64=)
c.4513C>G
c.4971C>G (p.Ser1657=)
c.2293C>G
c.4695C>G (p.Ser1565=)
c.4407C>G (p.Ser1469=)
c.1935C>G (p.Ser645=)
dbSNP
19g.35730020C>TCA507072577KMT2Bc.4905C>T (p.Ser1635=)
c.2512C>T (n.2512C>T)
c.189C>T (p.Ser63=)
c.397C>T
n.124C>T
c.192C>T (p.Ser64=)
c.4513C>T
c.4971C>T (p.Ser1657=)
c.2293C>T
c.4695C>T (p.Ser1565=)
c.4407C>T (p.Ser1469=)
c.1935C>T (p.Ser645=)
19g.35730021T>ACA405418891KMT2Bc.4906T>A (p.Cys1636Ser)
c.2513T>A (n.2513T>A)
c.190T>A (p.Cys64Ser)
c.398T>A
n.125T>A
c.193T>A (p.Cys65Ser)
c.4514T>A
c.4972T>A (p.Cys1658Ser)
c.2294T>A
c.4696T>A (p.Cys1566Ser)
c.4408T>A (p.Cys1470Ser)
c.1936T>A (p.Cys646Ser)
19g.35730021T>CCA405418893KMT2Bc.4906T>C (p.Cys1636Arg)
c.2513T>C (n.2513T>C)
c.190T>C (p.Cys64Arg)
c.398T>C
n.125T>C
c.193T>C (p.Cys65Arg)
c.4514T>C
c.4972T>C (p.Cys1658Arg)
c.2294T>C
c.4696T>C (p.Cys1566Arg)
c.4408T>C (p.Cys1470Arg)
c.1936T>C (p.Cys646Arg)
19g.35730021T>GCA405418895KMT2Bc.4906T>G (p.Cys1636Gly)
c.2513T>G (n.2513T>G)
c.190T>G (p.Cys64Gly)
c.398T>G
n.125T>G
c.193T>G (p.Cys65Gly)
c.4514T>G
c.4972T>G (p.Cys1658Gly)
c.2294T>G
c.4696T>G (p.Cys1566Gly)
c.4408T>G (p.Cys1470Gly)
c.1936T>G (p.Cys646Gly)
19g.35730022_35730023insTGTGTGCA2333793093KMT2Bc.4907_4908insTGTGTG (p.Cys1636_Leu1637insValCys)
c.2514_2515insTGTGTG (n.2514_2515insTGTGTG)
c.191_192insTGTGTG (p.Cys64_Leu65insValCys)
c.399_400insTGTGTG
n.126_127insTGTGTG
c.194_195insTGTGTG (p.Cys65_Leu66insValCys)
c.4515_4516insTGTGTG
c.4973_4974insTGTGTG (p.Cys1658_Leu1659insValCys)
c.2295_2296insTGTGTG
c.4697_4698insTGTGTG (p.Cys1566_Leu1567insValCys)
c.4409_4410insTGTGTG (p.Cys1470_Leu1471insValCys)
c.1937_1938insTGTGTG (p.Cys646_Leu647insValCys)
ClinVar dbSNP
19g.35730022G>ACA405418897KMT2Bc.4907G>A (p.Cys1636Tyr)
c.2514G>A (n.2514G>A)
c.191G>A (p.Cys64Tyr)
c.399G>A
n.126G>A
c.194G>A (p.Cys65Tyr)
c.4515G>A
c.4973G>A (p.Cys1658Tyr)
c.2295G>A
c.4697G>A (p.Cys1566Tyr)
c.4409G>A (p.Cys1470Tyr)
c.1937G>A (p.Cys646Tyr)
19g.35730022G>CCA405418898KMT2Bc.4907G>C (p.Cys1636Ser)
c.2514G>C (n.2514G>C)
c.191G>C (p.Cys64Ser)
c.399G>C
n.126G>C
c.194G>C (p.Cys65Ser)
c.4515G>C
c.4973G>C (p.Cys1658Ser)
c.2295G>C
c.4697G>C (p.Cys1566Ser)
c.4409G>C (p.Cys1470Ser)
c.1937G>C (p.Cys646Ser)
19g.35730022G>TCA405418899KMT2Bc.4907G>T (p.Cys1636Phe)
c.2514G>T (n.2514G>T)
c.191G>T (p.Cys64Phe)
c.399G>T
n.126G>T
c.194G>T (p.Cys65Phe)
c.4515G>T
c.4973G>T (p.Cys1658Phe)
c.2295G>T
c.4697G>T (p.Cys1566Phe)
c.4409G>T (p.Cys1470Phe)
c.1937G>T (p.Cys646Phe)
19g.35730023C>ACA405418900KMT2Bc.4908C>A (p.Cys1636Ter)
c.2515C>A (n.2515C>A)
c.192C>A (p.Cys64Ter)
c.400C>A
n.127C>A
c.195C>A (p.Cys65Ter)
c.4516C>A
c.4974C>A (p.Cys1658Ter)
c.2296C>A
c.4698C>A (p.Cys1566Ter)
c.4410C>A (p.Cys1470Ter)
c.1938C>A (p.Cys646Ter)
19g.35730023C=CA2333793094KMT2Bc.4908C= (p.Cys1636=)
c.2515C= (n.2515C=)
c.192C= (p.Cys64=)
c.400C=
n.127C=
c.195C= (p.Cys65=)
c.4516C=
c.4974C= (p.Cys1658=)
c.2296C=
c.4698C= (p.Cys1566=)
c.4410C= (p.Cys1470=)
c.1938C= (p.Cys646=)
19g.35730023C>GCA405418901KMT2Bc.4908C>G (p.Cys1636Trp)
c.2515C>G (n.2515C>G)
c.192C>G (p.Cys64Trp)
c.400C>G
n.127C>G
c.195C>G (p.Cys65Trp)
c.4516C>G
c.4974C>G (p.Cys1658Trp)
c.2296C>G
c.4698C>G (p.Cys1566Trp)
c.4410C>G (p.Cys1470Trp)
c.1938C>G (p.Cys646Trp)
19g.35730023C>TCA9385268KMT2Bc.4908C>T (p.Cys1636=)
c.2515C>T (n.2515C>T)
c.192C>T (p.Cys64=)
c.400C>T
n.127C>T
c.195C>T (p.Cys65=)
c.4516C>T
c.4974C>T (p.Cys1658=)
c.2296C>T
c.4698C>T (p.Cys1566=)
c.4410C>T (p.Cys1470=)
c.1938C>T (p.Cys646=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.35730024C>ACA405418902KMT2Bc.4909C>A (p.Leu1637Ile)
c.2516C>A (n.2516C>A)
c.193C>A (p.Leu65Ile)
c.401C>A
n.128C>A
c.196C>A (p.Leu66Ile)
c.4517C>A
c.4975C>A (p.Leu1659Ile)
c.2297C>A
c.4699C>A (p.Leu1567Ile)
c.4411C>A (p.Leu1471Ile)
c.1939C>A (p.Leu647Ile)
19g.35730024C>GCA405418904KMT2Bc.4909C>G (p.Leu1637Val)
c.2516C>G (n.2516C>G)
c.193C>G (p.Leu65Val)
c.401C>G
n.128C>G
c.196C>G (p.Leu66Val)
c.4517C>G
c.4975C>G (p.Leu1659Val)
c.2297C>G
c.4699C>G (p.Leu1567Val)
c.4411C>G (p.Leu1471Val)
c.1939C>G (p.Leu647Val)
gnomAD v4
19g.35730024C>TCA405418903KMT2Bc.4909C>T (p.Leu1637Phe)
c.2516C>T (n.2516C>T)
c.193C>T (p.Leu65Phe)
c.401C>T
n.128C>T
c.196C>T (p.Leu66Phe)
c.4517C>T
c.4975C>T (p.Leu1659Phe)
c.2297C>T
c.4699C>T (p.Leu1567Phe)
c.4411C>T (p.Leu1471Phe)
c.1939C>T (p.Leu647Phe)
19g.35730025T>ACA405418905KMT2Bc.4910T>A (p.Leu1637His)
c.2517T>A (n.2517T>A)
c.194T>A (p.Leu65His)
c.402T>A
n.129T>A
c.197T>A (p.Leu66His)
c.4518T>A
c.4976T>A (p.Leu1659His)
c.2298T>A
c.4700T>A (p.Leu1567His)
c.4412T>A (p.Leu1471His)
c.1940T>A (p.Leu647His)
19g.35730025T>CCA405418907KMT2Bc.4910T>C (p.Leu1637Pro)
c.2517T>C (n.2517T>C)
c.194T>C (p.Leu65Pro)
c.402T>C
n.129T>C
c.197T>C (p.Leu66Pro)
c.4518T>C
c.4976T>C (p.Leu1659Pro)
c.2298T>C
c.4700T>C (p.Leu1567Pro)
c.4412T>C (p.Leu1471Pro)
c.1940T>C (p.Leu647Pro)
19g.35730025T>GCA405418906KMT2Bc.4910T>G (p.Leu1637Arg)
c.2517T>G (n.2517T>G)
c.194T>G (p.Leu65Arg)
c.402T>G
n.129T>G
c.197T>G (p.Leu66Arg)
c.4518T>G
c.4976T>G (p.Leu1659Arg)
c.2298T>G
c.4700T>G (p.Leu1567Arg)
c.4412T>G (p.Leu1471Arg)
c.1940T>G (p.Leu647Arg)
19g.35730026C>ACA507072584KMT2Bc.4911C>A (p.Leu1637=)
c.2518C>A (n.2518C>A)
c.195C>A (p.Leu65=)
c.403C>A
n.130C>A
c.198C>A (p.Leu66=)
c.4519C>A
c.4977C>A (p.Leu1659=)
c.2299C>A
c.4701C>A (p.Leu1567=)
c.4413C>A (p.Leu1471=)
c.1941C>A (p.Leu647=)
19g.35730026C>GCA507072585KMT2Bc.4911C>G (p.Leu1637=)
c.2518C>G (n.2518C>G)
c.195C>G (p.Leu65=)
c.403C>G
n.130C>G
c.198C>G (p.Leu66=)
c.4519C>G
c.4977C>G (p.Leu1659=)
c.2299C>G
c.4701C>G (p.Leu1567=)
c.4413C>G (p.Leu1471=)
c.1941C>G (p.Leu647=)
19g.35730026C>TCA507072586KMT2Bc.4911C>T (p.Leu1637=)
c.2518C>T (n.2518C>T)
c.195C>T (p.Leu65=)
c.403C>T
n.130C>T
c.198C>T (p.Leu66=)
c.4519C>T
c.4977C>T (p.Leu1659=)
c.2299C>T
c.4701C>T (p.Leu1567=)
c.4413C>T (p.Leu1471=)
c.1941C>T (p.Leu647=)
19g.35730027A=CA2333793095KMT2Bc.4912A= (p.Ser1638=)
c.2519A= (n.2519A=)
c.196A= (p.Ser66=)
c.404A=
n.131A=
c.199A= (p.Ser67=)
c.4520A=
c.4978A= (p.Ser1660=)
c.2300A=
c.4702A= (p.Ser1568=)
c.4414A= (p.Ser1472=)
c.1942A= (p.Ser648=)
19g.35730027A>CCA405418908KMT2Bc.4912A>C (p.Ser1638Arg)
c.2519A>C (n.2519A>C)
c.196A>C (p.Ser66Arg)
c.404A>C
n.131A>C
c.199A>C (p.Ser67Arg)
c.4520A>C
c.4978A>C (p.Ser1660Arg)
c.2300A>C
c.4702A>C (p.Ser1568Arg)
c.4414A>C (p.Ser1472Arg)
c.1942A>C (p.Ser648Arg)
19g.35730027A>GCA307792958KMT2Bc.4912A>G (p.Ser1638Gly)
c.2519A>G (n.2519A>G)
c.196A>G (p.Ser66Gly)
c.404A>G
n.131A>G
c.199A>G (p.Ser67Gly)
c.4520A>G
c.4978A>G (p.Ser1660Gly)
c.2300A>G
c.4702A>G (p.Ser1568Gly)
c.4414A>G (p.Ser1472Gly)
c.1942A>G (p.Ser648Gly)
ClinVar dbSNP gnomAD v4
19g.35730027A>TCA405418909KMT2Bc.4912A>T (p.Ser1638Cys)
c.2519A>T (n.2519A>T)
c.196A>T (p.Ser66Cys)
c.404A>T
n.131A>T
c.199A>T (p.Ser67Cys)
c.4520A>T
c.4978A>T (p.Ser1660Cys)
c.2300A>T
c.4702A>T (p.Ser1568Cys)
c.4414A>T (p.Ser1472Cys)
c.1942A>T (p.Ser648Cys)
19g.35730028G>ACA405418910KMT2Bc.4913G>A (p.Ser1638Asn)
c.2520G>A (n.2520G>A)
c.197G>A (p.Ser66Asn)
c.405G>A
n.132G>A
c.200G>A (p.Ser67Asn)
c.4521G>A
c.4979G>A (p.Ser1660Asn)
c.2301G>A
c.4703G>A (p.Ser1568Asn)
c.4415G>A (p.Ser1472Asn)
c.1943G>A (p.Ser648Asn)
19g.35730028G>CCA405418912KMT2Bc.4913G>C (p.Ser1638Thr)
c.2520G>C (n.2520G>C)
c.197G>C (p.Ser66Thr)
c.405G>C
n.132G>C
c.200G>C (p.Ser67Thr)
c.4521G>C
c.4979G>C (p.Ser1660Thr)
c.2301G>C
c.4703G>C (p.Ser1568Thr)
c.4415G>C (p.Ser1472Thr)
c.1943G>C (p.Ser648Thr)
19g.35730028G>TCA405418911KMT2Bc.4913G>T (p.Ser1638Ile)
c.2520G>T (n.2520G>T)
c.197G>T (p.Ser66Ile)
c.405G>T
n.132G>T
c.200G>T (p.Ser67Ile)
c.4521G>T
c.4979G>T (p.Ser1660Ile)
c.2301G>T
c.4703G>T (p.Ser1568Ile)
c.4415G>T (p.Ser1472Ile)
c.1943G>T (p.Ser648Ile)
19g.35730029C>ACA405418913KMT2Bc.4914C>A (p.Ser1638Arg)
c.2521C>A (n.2521C>A)
c.198C>A (p.Ser66Arg)
c.406C>A
n.133C>A
c.201C>A (p.Ser67Arg)
c.4522C>A
c.4980C>A (p.Ser1660Arg)
c.2302C>A
c.4704C>A (p.Ser1568Arg)
c.4416C>A (p.Ser1472Arg)
c.1944C>A (p.Ser648Arg)
19g.35730029C>GCA405418914KMT2Bc.4914C>G (p.Ser1638Arg)
c.2521C>G (n.2521C>G)
c.198C>G (p.Ser66Arg)
c.406C>G
n.133C>G
c.201C>G (p.Ser67Arg)
c.4522C>G
c.4980C>G (p.Ser1660Arg)
c.2302C>G
c.4704C>G (p.Ser1568Arg)
c.4416C>G (p.Ser1472Arg)
c.1944C>G (p.Ser648Arg)
19g.35730029C>TCA507072595KMT2Bc.4914C>T (p.Ser1638=)
c.2521C>T (n.2521C>T)
c.198C>T (p.Ser66=)
c.406C>T
n.133C>T
c.201C>T (p.Ser67=)
c.4522C>T
c.4980C>T (p.Ser1660=)
c.2302C>T
c.4704C>T (p.Ser1568=)
c.4416C>T (p.Ser1472=)
c.1944C>T (p.Ser648=)
gnomAD v4
19g.35730030A>CCA405418915KMT2Bc.4915A>C (p.Asn1639His)
c.2522A>C (n.2522A>C)
c.199A>C (p.Asn67His)
c.407A>C
n.134A>C
c.202A>C (p.Asn68His)
c.4523A>C
c.4981A>C (p.Asn1661His)
c.2303A>C
c.4705A>C (p.Asn1569His)
c.4417A>C (p.Asn1473His)
c.1945A>C (p.Asn649His)
19g.35730030A>GCA405418919KMT2Bc.4915A>G (p.Asn1639Asp)
c.2522A>G (n.2522A>G)
c.199A>G (p.Asn67Asp)
c.407A>G
n.134A>G
c.202A>G (p.Asn68Asp)
c.4523A>G
c.4981A>G (p.Asn1661Asp)
c.2303A>G
c.4705A>G (p.Asn1569Asp)
c.4417A>G (p.Asn1473Asp)
c.1945A>G (p.Asn649Asp)
19g.35730030A>TCA405418917KMT2Bc.4915A>T (p.Asn1639Tyr)
c.2522A>T (n.2522A>T)
c.199A>T (p.Asn67Tyr)
c.407A>T
n.134A>T
c.202A>T (p.Asn68Tyr)
c.4523A>T
c.4981A>T (p.Asn1661Tyr)
c.2303A>T
c.4705A>T (p.Asn1569Tyr)
c.4417A>T (p.Asn1473Tyr)
c.1945A>T (p.Asn649Tyr)
19g.35730031A>CCA405418923KMT2Bc.4916A>C (p.Asn1639Thr)
c.2523A>C (n.2523A>C)
c.200A>C (p.Asn67Thr)
c.408A>C
n.135A>C
c.203A>C (p.Asn68Thr)
c.4524A>C
c.4982A>C (p.Asn1661Thr)
c.2304A>C
c.4706A>C (p.Asn1569Thr)
c.4418A>C (p.Asn1473Thr)
c.1946A>C (p.Asn649Thr)
19g.35730031A>GCA405418927KMT2Bc.4916A>G (p.Asn1639Ser)
c.2523A>G (n.2523A>G)
c.200A>G (p.Asn67Ser)
c.408A>G
n.135A>G
c.203A>G (p.Asn68Ser)
c.4524A>G
c.4982A>G (p.Asn1661Ser)
c.2304A>G
c.4706A>G (p.Asn1569Ser)
c.4418A>G (p.Asn1473Ser)
c.1946A>G (p.Asn649Ser)
19g.35730031A>TCA405418925KMT2Bc.4916A>T (p.Asn1639Ile)
c.2523A>T (n.2523A>T)
c.200A>T (p.Asn67Ile)
c.408A>T
n.135A>T
c.203A>T (p.Asn68Ile)
c.4524A>T
c.4982A>T (p.Asn1661Ile)
c.2304A>T
c.4706A>T (p.Asn1569Ile)
c.4418A>T (p.Asn1473Ile)
c.1946A>T (p.Asn649Ile)
19g.35730032C>ACA405418929KMT2Bc.4917C>A (p.Asn1639Lys)
c.2524C>A (n.2524C>A)
c.201C>A (p.Asn67Lys)
c.409C>A
n.136C>A
c.204C>A (p.Asn68Lys)
c.4525C>A
c.4983C>A (p.Asn1661Lys)
c.2305C>A
c.4707C>A (p.Asn1569Lys)
c.4419C>A (p.Asn1473Lys)
c.1947C>A (p.Asn649Lys)
19g.35730032C=CA2333793096KMT2Bc.4917C= (p.Asn1639=)
c.2524C= (n.2524C=)
c.201C= (p.Asn67=)
c.409C=
n.136C=
c.204C= (p.Asn68=)
c.4525C=
c.4983C= (p.Asn1661=)
c.2305C=
c.4707C= (p.Asn1569=)
c.4419C= (p.Asn1473=)
c.1947C= (p.Asn649=)
19g.35730032C>GCA405418930KMT2Bc.4917C>G (p.Asn1639Lys)
c.2524C>G (n.2524C>G)
c.201C>G (p.Asn67Lys)
c.409C>G
n.136C>G
c.204C>G (p.Asn68Lys)
c.4525C>G
c.4983C>G (p.Asn1661Lys)
c.2305C>G
c.4707C>G (p.Asn1569Lys)
c.4419C>G (p.Asn1473Lys)
c.1947C>G (p.Asn649Lys)
19g.35730032C>TCA507072600KMT2Bc.4917C>T (p.Asn1639=)
c.2524C>T (n.2524C>T)
c.201C>T (p.Asn67=)
c.409C>T
n.136C>T
c.204C>T (p.Asn68=)
c.4525C>T
c.4983C>T (p.Asn1661=)
c.2305C>T
c.4707C>T (p.Asn1569=)
c.4419C>T (p.Asn1473=)
c.1947C>T (p.Asn649=)
dbSNP gnomAD v4
19g.35730033T>ACA405418933KMT2Bc.4918T>A (p.Phe1640Ile)
c.2525T>A (n.2525T>A)
c.202T>A (p.Phe68Ile)
c.410T>A
n.137T>A
c.205T>A (p.Phe69Ile)
c.4526T>A
c.4984T>A (p.Phe1662Ile)
c.2306T>A
c.4708T>A (p.Phe1570Ile)
c.4420T>A (p.Phe1474Ile)
c.1948T>A (p.Phe650Ile)
19g.35730033T>CCA405418935KMT2Bc.4918T>C (p.Phe1640Leu)
c.2525T>C (n.2525T>C)
c.202T>C (p.Phe68Leu)
c.410T>C
n.137T>C
c.205T>C (p.Phe69Leu)
c.4526T>C
c.4984T>C (p.Phe1662Leu)
c.2306T>C
c.4708T>C (p.Phe1570Leu)
c.4420T>C (p.Phe1474Leu)
c.1948T>C (p.Phe650Leu)
19g.35730033T>GCA405418937KMT2Bc.4918T>G (p.Phe1640Val)
c.2525T>G (n.2525T>G)
c.202T>G (p.Phe68Val)
c.410T>G
n.137T>G
c.205T>G (p.Phe69Val)
c.4526T>G
c.4984T>G (p.Phe1662Val)
c.2306T>G
c.4708T>G (p.Phe1570Val)
c.4420T>G (p.Phe1474Val)
c.1948T>G (p.Phe650Val)
COSMIC
19g.35730034T>ACA405418940KMT2Bc.4919T>A (p.Phe1640Tyr)
c.2526T>A (n.2526T>A)
c.203T>A (p.Phe68Tyr)
c.411T>A
n.138T>A
c.206T>A (p.Phe69Tyr)
c.4527T>A
c.4985T>A (p.Phe1662Tyr)
c.2307T>A
c.4709T>A (p.Phe1570Tyr)
c.4421T>A (p.Phe1474Tyr)
c.1949T>A (p.Phe650Tyr)
19g.35730034T>CCA405418942KMT2Bc.4919T>C (p.Phe1640Ser)
c.2526T>C (n.2526T>C)
c.203T>C (p.Phe68Ser)
c.411T>C
n.138T>C
c.206T>C (p.Phe69Ser)
c.4527T>C
c.4985T>C (p.Phe1662Ser)
c.2307T>C
c.4709T>C (p.Phe1570Ser)
c.4421T>C (p.Phe1474Ser)
c.1949T>C (p.Phe650Ser)
19g.35730034T>GCA405418945KMT2Bc.4919T>G (p.Phe1640Cys)
c.2526T>G (n.2526T>G)
c.203T>G (p.Phe68Cys)
c.411T>G
n.138T>G
c.206T>G (p.Phe69Cys)
c.4527T>G
c.4985T>G (p.Phe1662Cys)
c.2307T>G
c.4709T>G (p.Phe1570Cys)
c.4421T>G (p.Phe1474Cys)
c.1949T>G (p.Phe650Cys)
19g.35730035C>ACA405418948KMT2Bc.4920C>A (p.Phe1640Leu)
c.2527C>A (n.2527C>A)
c.204C>A (p.Phe68Leu)
c.412C>A
n.139C>A
c.207C>A (p.Phe69Leu)
c.4528C>A
c.4986C>A (p.Phe1662Leu)
c.2308C>A
c.4710C>A (p.Phe1570Leu)
c.4422C>A (p.Phe1474Leu)
c.1950C>A (p.Phe650Leu)
ClinVar dbSNP
19g.35730035C=CA2333793097KMT2Bc.4920C= (p.Phe1640=)
c.2527C= (n.2527C=)
c.204C= (p.Phe68=)
c.412C=
n.139C=
c.207C= (p.Phe69=)
c.4528C=
c.4986C= (p.Phe1662=)
c.2308C=
c.4710C= (p.Phe1570=)
c.4422C= (p.Phe1474=)
c.1950C= (p.Phe650=)
19g.35730035C>GCA405418950KMT2Bc.4920C>G (p.Phe1640Leu)
c.2527C>G (n.2527C>G)
c.204C>G (p.Phe68Leu)
c.412C>G
n.139C>G
c.207C>G (p.Phe69Leu)
c.4528C>G
c.4986C>G (p.Phe1662Leu)
c.2308C>G
c.4710C>G (p.Phe1570Leu)
c.4422C>G (p.Phe1474Leu)
c.1950C>G (p.Phe650Leu)
19g.35730035C>TCA9385269KMT2Bc.4920C>T (p.Phe1640=)
c.2527C>T (n.2527C>T)
c.204C>T (p.Phe68=)
c.412C>T
n.139C>T
c.207C>T (p.Phe69=)
c.4528C>T
c.4986C>T (p.Phe1662=)
c.2308C>T
c.4710C>T (p.Phe1570=)
c.4422C>T (p.Phe1474=)
c.1950C>T (p.Phe650=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35730036C>ACA405418954KMT2Bc.4921C>A (p.His1641Asn)
c.2528C>A (n.2528C>A)
c.205C>A (p.His69Asn)
c.413C>A
n.140C>A
c.208C>A (p.His70Asn)
c.4529C>A
c.4987C>A (p.His1663Asn)
c.2309C>A
c.4711C>A (p.His1571Asn)
c.4423C>A (p.His1475Asn)
c.1951C>A (p.His651Asn)
19g.35730036C>GCA405418959KMT2Bc.4921C>G (p.His1641Asp)
c.2528C>G (n.2528C>G)
c.205C>G (p.His69Asp)
c.413C>G
n.140C>G
c.208C>G (p.His70Asp)
c.4529C>G
c.4987C>G (p.His1663Asp)
c.2309C>G
c.4711C>G (p.His1571Asp)
c.4423C>G (p.His1475Asp)
c.1951C>G (p.His651Asp)
19g.35730036C>TCA405418956KMT2Bc.4921C>T (p.His1641Tyr)
c.2528C>T (n.2528C>T)
c.205C>T (p.His69Tyr)
c.413C>T
n.140C>T
c.208C>T (p.His70Tyr)
c.4529C>T
c.4987C>T (p.His1663Tyr)
c.2309C>T
c.4711C>T (p.His1571Tyr)
c.4423C>T (p.His1475Tyr)
c.1951C>T (p.His651Tyr)
19g.35730037A=CA2333793098KMT2Bc.4922A= (p.His1641=)
c.2529A= (n.2529A=)
c.206A= (p.His69=)
c.414A=
n.141A=
c.209A= (p.His70=)
c.4530A=
c.4988A= (p.His1663=)
c.2310A=
c.4712A= (p.His1571=)
c.4424A= (p.His1475=)
c.1952A= (p.His651=)
19g.35730037A>CCA405418962KMT2Bc.4922A>C (p.His1641Pro)
c.2529A>C (n.2529A>C)
c.206A>C (p.His69Pro)
c.414A>C
n.141A>C
c.209A>C (p.His70Pro)
c.4530A>C
c.4988A>C (p.His1663Pro)
c.2310A>C
c.4712A>C (p.His1571Pro)
c.4424A>C (p.His1475Pro)
c.1952A>C (p.His651Pro)
ClinVar dbSNP
19g.35730037A>GCA405418964KMT2Bc.4922A>G (p.His1641Arg)
c.2529A>G (n.2529A>G)
c.206A>G (p.His69Arg)
c.414A>G
n.141A>G
c.209A>G (p.His70Arg)
c.4530A>G
c.4988A>G (p.His1663Arg)
c.2310A>G
c.4712A>G (p.His1571Arg)
c.4424A>G (p.His1475Arg)
c.1952A>G (p.His651Arg)
19g.35730037A>TCA405418966KMT2Bc.4922A>T (p.His1641Leu)
c.2529A>T (n.2529A>T)
c.206A>T (p.His69Leu)
c.414A>T
n.141A>T
c.209A>T (p.His70Leu)
c.4530A>T
c.4988A>T (p.His1663Leu)
c.2310A>T
c.4712A>T (p.His1571Leu)
c.4424A>T (p.His1475Leu)
c.1952A>T (p.His651Leu)
19g.35730038C>ACA405418969KMT2Bc.4923C>A (p.His1641Gln)
c.2530C>A (n.2530C>A)
c.207C>A (p.His69Gln)
c.415C>A
n.142C>A
c.210C>A (p.His70Gln)
c.4531C>A
c.4989C>A (p.His1663Gln)
c.2311C>A
c.4713C>A (p.His1571Gln)
c.4425C>A (p.His1475Gln)
c.1953C>A (p.His651Gln)
19g.35730038C>GCA405418971KMT2Bc.4923C>G (p.His1641Gln)
c.2530C>G (n.2530C>G)
c.207C>G (p.His69Gln)
c.415C>G
n.142C>G
c.210C>G (p.His70Gln)
c.4531C>G
c.4989C>G (p.His1663Gln)
c.2311C>G
c.4713C>G (p.His1571Gln)
c.4425C>G (p.His1475Gln)
c.1953C>G (p.His651Gln)
19g.35730038C>TCA507072612KMT2Bc.4923C>T (p.His1641=)
c.2530C>T (n.2530C>T)
c.207C>T (p.His69=)
c.415C>T
n.142C>T
c.210C>T (p.His70=)
c.4531C>T
c.4989C>T (p.His1663=)
c.2311C>T
c.4713C>T (p.His1571=)
c.4425C>T (p.His1475=)
c.1953C>T (p.His651=)
gnomAD v4
19g.35730039T>ACA405418973KMT2Bc.4924T>A (p.Phe1642Ile)
c.2531T>A (n.2531T>A)
c.208T>A (p.Phe70Ile)
c.416T>A
n.143T>A
c.211T>A (p.Phe71Ile)
c.4532T>A
c.4990T>A (p.Phe1664Ile)
c.2312T>A
c.4714T>A (p.Phe1572Ile)
c.4426T>A (p.Phe1476Ile)
c.1954T>A (p.Phe652Ile)
19g.35730039T>CCA405418975KMT2Bc.4924T>C (p.Phe1642Leu)
c.2531T>C (n.2531T>C)
c.208T>C (p.Phe70Leu)
c.416T>C
n.143T>C
c.211T>C (p.Phe71Leu)
c.4532T>C
c.4990T>C (p.Phe1664Leu)
c.2312T>C
c.4714T>C (p.Phe1572Leu)
c.4426T>C (p.Phe1476Leu)
c.1954T>C (p.Phe652Leu)
19g.35730039T>GCA405418977KMT2Bc.4924T>G (p.Phe1642Val)
c.2531T>G (n.2531T>G)
c.208T>G (p.Phe70Val)
c.416T>G
n.143T>G
c.211T>G (p.Phe71Val)
c.4532T>G
c.4990T>G (p.Phe1664Val)
c.2312T>G
c.4714T>G (p.Phe1572Val)
c.4426T>G (p.Phe1476Val)
c.1954T>G (p.Phe652Val)
19g.35730040T>ACA405418982KMT2Bc.4925T>A (p.Phe1642Tyr)
c.2532T>A (n.2532T>A)
c.209T>A (p.Phe70Tyr)
c.417T>A
n.144T>A
c.212T>A (p.Phe71Tyr)
c.4533T>A
c.4991T>A (p.Phe1664Tyr)
c.2313T>A
c.4715T>A (p.Phe1572Tyr)
c.4427T>A (p.Phe1476Tyr)
c.1955T>A (p.Phe652Tyr)
19g.35730040T>CCA405418983KMT2Bc.4925T>C (p.Phe1642Ser)
c.2532T>C (n.2532T>C)
c.209T>C (p.Phe70Ser)
c.417T>C
n.144T>C
c.212T>C (p.Phe71Ser)
c.4533T>C
c.4991T>C (p.Phe1664Ser)
c.2313T>C
c.4715T>C (p.Phe1572Ser)
c.4427T>C (p.Phe1476Ser)
c.1955T>C (p.Phe652Ser)
19g.35730040T>GCA405418980KMT2Bc.4925T>G (p.Phe1642Cys)
c.2532T>G (n.2532T>G)
c.209T>G (p.Phe70Cys)
c.417T>G
n.144T>G
c.212T>G (p.Phe71Cys)
c.4533T>G
c.4991T>G (p.Phe1664Cys)
c.2313T>G
c.4715T>G (p.Phe1572Cys)
c.4427T>G (p.Phe1476Cys)
c.1955T>G (p.Phe652Cys)
19g.35730041C>ACA405418985KMT2Bc.4926C>A (p.Phe1642Leu)
c.2533C>A (n.2533C>A)
c.210C>A (p.Phe70Leu)
c.418C>A
n.145C>A
c.213C>A (p.Phe71Leu)
c.4534C>A
c.4992C>A (p.Phe1664Leu)
c.2314C>A
c.4716C>A (p.Phe1572Leu)
c.4428C>A (p.Phe1476Leu)
c.1956C>A (p.Phe652Leu)
19g.35730041C>GCA405418986KMT2Bc.4926C>G (p.Phe1642Leu)
c.2533C>G (n.2533C>G)
c.210C>G (p.Phe70Leu)
c.418C>G
n.145C>G
c.213C>G (p.Phe71Leu)
c.4534C>G
c.4992C>G (p.Phe1664Leu)
c.2314C>G
c.4716C>G (p.Phe1572Leu)
c.4428C>G (p.Phe1476Leu)
c.1956C>G (p.Phe652Leu)
19g.35730041C>TCA507072616KMT2Bc.4926C>T (p.Phe1642=)
c.2533C>T (n.2533C>T)
c.210C>T (p.Phe70=)
c.418C>T
n.145C>T
c.213C>T (p.Phe71=)
c.4534C>T
c.4992C>T (p.Phe1664=)
c.2314C>T
c.4716C>T (p.Phe1572=)
c.4428C>T (p.Phe1476=)
c.1956C>T (p.Phe652=)
19g.35730042A>CCA405418988KMT2Bc.4927A>C (p.Met1643Leu)
c.2534A>C (n.2534A>C)
c.211A>C (p.Met71Leu)
c.419A>C
n.146A>C
c.214A>C (p.Met72Leu)
c.4535A>C
c.4993A>C (p.Met1665Leu)
c.2315A>C
c.4717A>C (p.Met1573Leu)
c.4429A>C (p.Met1477Leu)
c.1957A>C (p.Met653Leu)
19g.35730042A>GCA405418990KMT2Bc.4927A>G (p.Met1643Val)
c.2534A>G (n.2534A>G)
c.211A>G (p.Met71Val)
c.419A>G
n.146A>G
c.214A>G (p.Met72Val)
c.4535A>G
c.4993A>G (p.Met1665Val)
c.2315A>G
c.4717A>G (p.Met1573Val)
c.4429A>G (p.Met1477Val)
c.1957A>G (p.Met653Val)
19g.35730042A>TCA405418992KMT2Bc.4927A>T (p.Met1643Leu)
c.2534A>T (n.2534A>T)
c.211A>T (p.Met71Leu)
c.419A>T
n.146A>T
c.214A>T (p.Met72Leu)
c.4535A>T
c.4993A>T (p.Met1665Leu)
c.2315A>T
c.4717A>T (p.Met1573Leu)
c.4429A>T (p.Met1477Leu)
c.1957A>T (p.Met653Leu)
19g.35730043T>ACA405418995KMT2Bc.4928T>A (p.Met1643Lys)
c.2535T>A (n.2535T>A)
c.212T>A (p.Met71Lys)
c.420T>A
n.147T>A
c.215T>A (p.Met72Lys)
c.4536T>A
c.4994T>A (p.Met1665Lys)
c.2316T>A
c.4718T>A (p.Met1573Lys)
c.4430T>A (p.Met1477Lys)
c.1958T>A (p.Met653Lys)
19g.35730043T>CCA405418996KMT2Bc.4928T>C (p.Met1643Thr)
c.2535T>C (n.2535T>C)
c.212T>C (p.Met71Thr)
c.420T>C
n.147T>C
c.215T>C (p.Met72Thr)
c.4536T>C
c.4994T>C (p.Met1665Thr)
c.2316T>C
c.4718T>C (p.Met1573Thr)
c.4430T>C (p.Met1477Thr)
c.1958T>C (p.Met653Thr)
19g.35730043T>GCA405418998KMT2Bc.4928T>G (p.Met1643Arg)
c.2535T>G (n.2535T>G)
c.212T>G (p.Met71Arg)
c.420T>G
n.147T>G
c.215T>G (p.Met72Arg)
c.4536T>G
c.4994T>G (p.Met1665Arg)
c.2316T>G
c.4718T>G (p.Met1573Arg)
c.4430T>G (p.Met1477Arg)
c.1958T>G (p.Met653Arg)
19g.35730044G>ACA405419001KMT2Bc.4929G>A (p.Met1643Ile)
c.2536G>A (n.2536G>A)
c.213G>A (p.Met71Ile)
c.421G>A
n.148G>A
c.216G>A (p.Met72Ile)
c.4537G>A
c.4995G>A (p.Met1665Ile)
c.2317G>A
c.4719G>A (p.Met1573Ile)
c.4431G>A (p.Met1477Ile)
c.1959G>A (p.Met653Ile)
19g.35730044G>CCA405419003KMT2Bc.4929G>C (p.Met1643Ile)
c.2536G>C (n.2536G>C)
c.213G>C (p.Met71Ile)
c.421G>C
n.148G>C
c.216G>C (p.Met72Ile)
c.4537G>C
c.4995G>C (p.Met1665Ile)
c.2317G>C
c.4719G>C (p.Met1573Ile)
c.4431G>C (p.Met1477Ile)
c.1959G>C (p.Met653Ile)
19g.35730044G>TCA405419005KMT2Bc.4929G>T (p.Met1643Ile)
c.2536G>T (n.2536G>T)
c.213G>T (p.Met71Ile)
c.421G>T
n.148G>T
c.216G>T (p.Met72Ile)
c.4537G>T
c.4995G>T (p.Met1665Ile)
c.2317G>T
c.4719G>T (p.Met1573Ile)
c.4431G>T (p.Met1477Ile)
c.1959G>T (p.Met653Ile)
19g.35730045T>ACA405419013KMT2Bc.4930T>A (p.Cys1644Ser)
c.2537T>A (n.2537T>A)
c.214T>A (p.Cys72Ser)
c.422T>A
n.149T>A
c.217T>A (p.Cys73Ser)
c.4538T>A
c.4996T>A (p.Cys1666Ser)
c.2318T>A
c.4720T>A (p.Cys1574Ser)
c.4432T>A (p.Cys1478Ser)
c.1960T>A (p.Cys654Ser)
19g.35730045T>CCA405419011KMT2Bc.4930T>C (p.Cys1644Arg)
c.2537T>C (n.2537T>C)
c.214T>C (p.Cys72Arg)
c.422T>C
n.149T>C
c.217T>C (p.Cys73Arg)
c.4538T>C
c.4996T>C (p.Cys1666Arg)
c.2318T>C
c.4720T>C (p.Cys1574Arg)
c.4432T>C (p.Cys1478Arg)
c.1960T>C (p.Cys654Arg)
19g.35730045T>GCA405419008KMT2Bc.4930T>G (p.Cys1644Gly)
c.2537T>G (n.2537T>G)
c.214T>G (p.Cys72Gly)
c.422T>G
n.149T>G
c.217T>G (p.Cys73Gly)
c.4538T>G
c.4996T>G (p.Cys1666Gly)
c.2318T>G
c.4720T>G (p.Cys1574Gly)
c.4432T>G (p.Cys1478Gly)
c.1960T>G (p.Cys654Gly)
19g.35730046G>ACA405419016KMT2Bc.4931G>A (p.Cys1644Tyr)
c.2538G>A (n.2538G>A)
c.215G>A (p.Cys72Tyr)
c.423G>A
n.150G>A
c.218G>A (p.Cys73Tyr)
c.4539G>A
c.4997G>A (p.Cys1666Tyr)
c.2319G>A
c.4721G>A (p.Cys1574Tyr)
c.4433G>A (p.Cys1478Tyr)
c.1961G>A (p.Cys654Tyr)
19g.35730046G>CCA405419017KMT2Bc.4931G>C (p.Cys1644Ser)
c.2538G>C (n.2538G>C)
c.215G>C (p.Cys72Ser)
c.423G>C
n.150G>C
c.218G>C (p.Cys73Ser)
c.4539G>C
c.4997G>C (p.Cys1666Ser)
c.2319G>C
c.4721G>C (p.Cys1574Ser)
c.4433G>C (p.Cys1478Ser)
c.1961G>C (p.Cys654Ser)
19g.35730046G>TCA405419020KMT2Bc.4931G>T (p.Cys1644Phe)
c.2538G>T (n.2538G>T)
c.215G>T (p.Cys72Phe)
c.423G>T
n.150G>T
c.218G>T (p.Cys73Phe)
c.4539G>T
c.4997G>T (p.Cys1666Phe)
c.2319G>T
c.4721G>T (p.Cys1574Phe)
c.4433G>T (p.Cys1478Phe)
c.1961G>T (p.Cys654Phe)

Number of alleles fetched