Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35729921_35729996del | CA2814254885 | KMT2B | c.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 | |
19 | g.35729944C>A | CA2584574689 | KMT2B | c.4852-23C>A (n.4852-23C>A) c.2459-23C>A (n.2459-23C>A) c.136-23C>A (n.136-23C>A) c.344-23C>A n.71-23C>A c.139-23C>A (n.139-23C>A) c.4460-23C>A c.4918-23C>A (n.4918-23C>A) c.2240-23C>A c.4642-23C>A (n.4642-23C>A) c.4354-23C>A (n.4354-23C>A) c.1882-23C>A (n.1882-23C>A) | gnomAD v4 |
19 | g.35729944C>T | CA2584574688 | KMT2B | c.4852-23C>T (n.4852-23C>T) c.2459-23C>T (n.2459-23C>T) c.136-23C>T (n.136-23C>T) c.344-23C>T n.71-23C>T c.139-23C>T (n.139-23C>T) c.4460-23C>T c.4918-23C>T (n.4918-23C>T) c.2240-23C>T c.4642-23C>T (n.4642-23C>T) c.4354-23C>T (n.4354-23C>T) c.1882-23C>T (n.1882-23C>T) | gnomAD v4 |
19 | g.35729946G>T | CA2584574690 | KMT2B | c.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 |
19 | g.35729949C>A | CA2584574691 | KMT2B | c.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 |
19 | g.35729951G>A | CA2584574692 | KMT2B | c.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 |
19 | g.35729951G= | CA2333793062 | KMT2B | c.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=) | |
19 | g.35729951G>T | CA633059959 | KMT2B | c.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 |
19 | g.35729954C= | CA2333793063 | KMT2B | c.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=) | |
19 | g.35729954C>G | CA633059960 | KMT2B | c.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 |
19 | g.35729954C>T | CA2333793064 | KMT2B | c.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 |
19 | g.35729955T>C | CA2584574693 | KMT2B | c.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 |
19 | g.35729956C>A | CA633059962 | KMT2B | c.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 |
19 | g.35729956C= | CA2333793065 | KMT2B | c.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=) | |
19 | g.35729956C>T | CA2580096844 | KMT2B | c.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 |
19 | g.35729957C>A | CA2814254887 | KMT2B | c.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) | |
19 | g.35729957C= | CA2333793066 | KMT2B | c.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=) | |
19 | g.35729957C>T | CA633059963 | KMT2B | c.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 |
19 | g.35729958C>A | CA2584574694 | KMT2B | c.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 |
19 | g.35729958C= | CA2333793067 | KMT2B | c.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=) | |
19 | g.35729958C>T | CA307792912 | KMT2B | c.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 |
19 | g.35729959C>G | CA2584574695 | KMT2B | c.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 |
19 | g.35729960T>C | CA9385255 | KMT2B | c.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 |
19 | g.35729960T= | CA2333793068 | KMT2B | c.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=) | |
19 | g.35729961A= | CA2333793069 | KMT2B | c.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=) | |
19 | g.35729961A>G | CA307792919 | KMT2B | c.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 |
19 | g.35729962C= | CA2333793070 | KMT2B | c.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=) | |
19 | g.35729962C>T | CA9385256 | KMT2B | c.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 |
19 | g.35729963G>A | CA9385257 | KMT2B | c.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 |
19 | g.35729963G= | CA2333793071 | KMT2B | c.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=) | |
19 | g.35729963G>T | CA2584574696 | KMT2B | c.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 |
19 | g.35729964C>T | CA2584574697 | KMT2B | c.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 |
19 | g.35729965A>C | CA405418613 | KMT2B | c.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) | |
19 | g.35729965A>G | CA405418615 | KMT2B | c.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) | |
19 | g.35729965A>T | CA405418617 | KMT2B | c.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) | |
19 | g.35729966G>A | CA405418620 | KMT2B | c.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 |
19 | g.35729966G>C | CA405418623 | KMT2B | c.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) | |
19 | g.35729966G>T | CA405418625 | KMT2B | c.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) | |
19 | g.35729967C>A | CA405418628 | KMT2B | c.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) | |
19 | g.35729967C>G | CA405418630 | KMT2B | c.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) | |
19 | g.35729967C>T | CA405418632 | KMT2B | c.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 |
19 | g.35729968G>A | CA405418635 | KMT2B | c.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 |
19 | g.35729968G>C | CA405418637 | KMT2B | c.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) | |
19 | g.35729968G= | CA2333793072 | KMT2B | c.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=) | |
19 | g.35729968G>T | CA405418639 | KMT2B | c.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) | |
19 | g.35729969C>A | CA507072432 | KMT2B | c.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=) | |
19 | g.35729969C>G | CA507072433 | KMT2B | c.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=) | |
19 | g.35729969C>T | CA507072434 | KMT2B | c.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=) | |
19 | g.35729970T>A | CA405418642 | KMT2B | c.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) | |
19 | g.35729970T>C | CA405418645 | KMT2B | c.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) | |
19 | g.35729970T>G | CA405418643 | KMT2B | c.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) | |
19 | g.35729971G>A | CA405418648 | KMT2B | c.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) | |
19 | g.35729971G>C | CA405418652 | KMT2B | c.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) | |
19 | g.35729971G>T | CA405418650 | KMT2B | c.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) | |
19 | g.35729972C>A | CA405418655 | KMT2B | c.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) | |
19 | g.35729972C= | CA2333793073 | KMT2B | c.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=) | |
19 | g.35729972C>G | CA405418659 | KMT2B | c.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) | |
19 | g.35729972C>T | CA9385258 | KMT2B | c.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 |
19 | g.35729973G>A | CA405418662 | KMT2B | c.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 |
19 | g.35729973G>C | CA405418663 | KMT2B | c.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) | |
19 | g.35729973G= | CA2333793074 | KMT2B | c.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=) | |
19 | g.35729973G>T | CA405418665 | KMT2B | c.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) | |
19 | g.35729974A>C | CA405418667 | KMT2B | c.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) | |
19 | g.35729974A>G | CA405418669 | KMT2B | c.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) | |
19 | g.35729974A>T | CA405418671 | KMT2B | c.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) | |
19 | g.35729975G>A | CA507072439 | KMT2B | c.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=) | |
19 | g.35729975G>C | CA405418673 | KMT2B | c.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) | |
19 | g.35729975G>T | CA405418675 | KMT2B | c.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 |
19 | g.35729976C>A | CA405418678 | KMT2B | c.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) | |
19 | g.35729976C>G | CA405418680 | KMT2B | c.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) | |
19 | g.35729976C>T | CA405418682 | KMT2B | c.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) | |
19 | g.35729977T>A | CA405418690 | KMT2B | c.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) | |
19 | g.35729977T>C | CA405418684 | KMT2B | c.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) | |
19 | g.35729977T>G | CA405418687 | KMT2B | c.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) | |
19 | g.35729978C>A | CA507072447 | KMT2B | c.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=) | |
19 | g.35729978C= | CA2333793075 | KMT2B | c.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=) | |
19 | g.35729978C>G | CA507072449 | KMT2B | c.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 |
19 | g.35729978C>T | CA507072451 | KMT2B | c.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 |
19 | g.35729979T>A | CA405418692 | KMT2B | c.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) | |
19 | g.35729979T>C | CA405418694 | KMT2B | c.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) | |
19 | g.35729979T>G | CA405418696 | KMT2B | c.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) | |
19 | g.35729980G>A | CA405418699 | KMT2B | c.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) | |
19 | g.35729980G>C | CA405418700 | KMT2B | c.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) | |
19 | g.35729980G= | CA2333793076 | KMT2B | c.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=) | |
19 | g.35729980G>T | CA405418702 | KMT2B | c.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 |
19 | g.35729981C>A | CA405418704 | KMT2B | c.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) | |
19 | g.35729981C>G | CA405418706 | KMT2B | c.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) | |
19 | g.35729981C>T | CA507072458 | KMT2B | c.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=) | |
19 | g.35729982C>A | CA405418708 | KMT2B | c.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) | |
19 | g.35729982C>G | CA405418709 | KMT2B | c.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) | |
19 | g.35729982C>T | CA507072463 | KMT2B | c.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=) | |
19 | g.35729983T>A | CA405418714 | KMT2B | c.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) | |
19 | g.35729983T>C | CA405418716 | KMT2B | c.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) | |
19 | g.35729983T>G | CA405418712 | KMT2B | c.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) | |
19 | g.35729984G>A | CA507072468 | KMT2B | c.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 |
19 | g.35729984G>C | CA507072469 | KMT2B | c.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=) | |
19 | g.35729984G= | CA2333793077 | KMT2B | c.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=) | |
19 | g.35729984G>T | CA507072470 | KMT2B | c.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=) | |
19 | g.35729985A>C | CA405418718 | KMT2B | c.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) | |
19 | g.35729985A>G | CA405418720 | KMT2B | c.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) | |
19 | g.35729985A>T | CA405418722 | KMT2B | c.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) | |
19 | g.35729986A>C | CA405418724 | KMT2B | c.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) | |
19 | g.35729986A>G | CA405418725 | KMT2B | c.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) | |
19 | g.35729986A>T | CA405418726 | KMT2B | c.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) | |
19 | g.35729987G>A | CA507072475 | KMT2B | c.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=) | |
19 | g.35729987G>C | CA405418727 | KMT2B | c.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) | |
19 | g.35729987G>T | CA405418728 | KMT2B | c.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) | |
19 | g.35729988C>A | CA9385259 | KMT2B | c.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 |
19 | g.35729988C= | CA2333793078 | KMT2B | c.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=) | |
19 | g.35729988C>G | CA405418731 | KMT2B | c.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) | |
19 | g.35729988C>T | CA405418733 | KMT2B | c.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) | |
19 | g.35729989C>A | CA405418735 | KMT2B | c.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) | |
19 | g.35729989C>G | CA405418737 | KMT2B | c.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) | |
19 | g.35729989C>T | CA405418738 | KMT2B | c.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) | |
19 | g.35729990T>A | CA507072486 | KMT2B | c.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=) | |
19 | g.35729990T>C | CA9385260 | KMT2B | c.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 |
19 | g.35729990T>G | CA507072490 | KMT2B | c.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=) | |
19 | g.35729990T= | CA2333793079 | KMT2B | c.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=) | |
19 | g.35729991G>A | CA405418743 | KMT2B | c.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) | |
19 | g.35729991G>C | CA405418744 | KMT2B | c.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) | |
19 | g.35729991G>T | CA405418746 | KMT2B | c.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) | |
19 | g.35729992G>A | CA405418748 | KMT2B | c.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) | |
19 | g.35729992G>C | CA405418750 | KMT2B | c.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) | |
19 | g.35729992G>T | CA405418752 | KMT2B | c.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) | |
19 | g.35729993C>A | CA507072498 | KMT2B | c.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=) | |
19 | g.35729993C= | CA2333793080 | KMT2B | c.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=) | |
19 | g.35729993C>G | CA507072499 | KMT2B | c.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=) | |
19 | g.35729993C>T | CA9385261 | KMT2B | c.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 |
19 | g.35729994G>A | CA405418756 | KMT2B | c.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) | |
19 | g.35729994G>C | CA405418758 | KMT2B | c.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) | |
19 | g.35729994G>T | CA405418759 | KMT2B | c.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) | |
19 | g.35729995C>A | CA405418762 | KMT2B | c.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) | |
19 | g.35729995C>G | CA405418764 | KMT2B | c.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) | |
19 | g.35729995C>T | CA405418765 | KMT2B | c.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) | |
19 | g.35729996C>A | CA507072504 | KMT2B | c.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=) | |
19 | g.35729996C= | CA2333793081 | KMT2B | c.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=) | |
19 | g.35729996C>G | CA507072505 | KMT2B | c.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 |
19 | g.35729996C>T | CA507072508 | KMT2B | c.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=) | |
19 | g.35729997A= | CA2333793082 | KMT2B | c.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=) | |
19 | g.35729997A>C | CA405418771 | KMT2B | c.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) | |
19 | g.35729997A>G | CA405418769 | KMT2B | c.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 |
19 | g.35729997A>T | CA405418767 | KMT2B | c.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) | |
19 | g.35729998C>A | CA405418773 | KMT2B | c.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) | |
19 | g.35729998C= | CA2333793083 | KMT2B | c.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=) | |
19 | g.35729998C>G | CA405418778 | KMT2B | c.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) | |
19 | g.35729998C>T | CA405418776 | KMT2B | c.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 |
19 | g.35729999G>A | CA9385262 | KMT2B | c.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 |
19 | g.35729999G>C | CA507072511 | KMT2B | c.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=) | |
19 | g.35729999G= | CA2333793084 | KMT2B | c.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=) | |
19 | g.35729999G>T | CA9385263 | KMT2B | c.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 |
19 | g.35730000G>A | CA405418784 | KMT2B | c.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) | |
19 | g.35730000G>C | CA405418787 | KMT2B | c.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) | |
19 | g.35730000G>T | CA405418789 | KMT2B | c.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) | |
19 | g.35730001T>A | CA405418791 | KMT2B | c.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) | |
19 | g.35730001T>C | CA405418793 | KMT2B | c.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) | |
19 | g.35730001T>G | CA405418795 | KMT2B | c.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) | |
19 | g.35730002G>A | CA9385264 | KMT2B | c.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 |
19 | g.35730002G>C | CA507072523 | KMT2B | c.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=) | |
19 | g.35730002G= | CA2333793085 | KMT2B | c.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=) | |
19 | g.35730002G>T | CA507072520 | KMT2B | c.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 |
19 | g.35730003G>A | CA405418800 | KMT2B | c.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) | |
19 | g.35730003G>C | CA405418802 | KMT2B | c.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) | |
19 | g.35730003G>T | CA405418804 | KMT2B | c.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) | |
19 | g.35730004G>A | CA405418811 | KMT2B | c.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 |
19 | g.35730004G>C | CA405418807 | KMT2B | c.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) | |
19 | g.35730004G= | CA2333793086 | KMT2B | c.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=) | |
19 | g.35730004G>T | CA405418809 | KMT2B | c.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) | |
19 | g.35730005C>A | CA507072537 | KMT2B | c.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=) | |
19 | g.35730005C>G | CA507072533 | KMT2B | c.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 |
19 | g.35730005C>T | CA507072536 | KMT2B | c.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=) | |
19 | g.35730006T>A | CA405418814 | KMT2B | c.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) | |
19 | g.35730006T>C | CA405418816 | KMT2B | c.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) | |
19 | g.35730006T>G | CA405418818 | KMT2B | c.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) | |
19 | g.35730007G>A | CA405418821 | KMT2B | c.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 |
19 | g.35730007G>C | CA405418823 | KMT2B | c.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) | |
19 | g.35730007G>T | CA405418825 | KMT2B | c.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) | |
19 | g.35730008C>A | CA405418827 | KMT2B | c.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) | |
19 | g.35730008C>G | CA405418829 | KMT2B | c.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) | |
19 | g.35730008C>T | CA507072544 | KMT2B | c.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 |
19 | g.35730009T>A | CA405418831 | KMT2B | c.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 |
19 | g.35730009T>C | CA405418832 | KMT2B | c.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 |
19 | g.35730009T>G | CA405418834 | KMT2B | c.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) | |
19 | g.35730009T= | CA2333793087 | KMT2B | c.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=) | |
19 | g.35730010G>A | CA405418841 | KMT2B | c.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) | |
19 | g.35730010G>C | CA405418839 | KMT2B | c.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) | |
19 | g.35730010G>T | CA405418837 | KMT2B | c.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) | |
19 | g.35730011C>A | CA405418843 | KMT2B | c.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) | |
19 | g.35730011C= | CA2333793088 | KMT2B | c.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=) | |
19 | g.35730011C>G | CA405418845 | KMT2B | c.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) | |
19 | g.35730011C>T | CA9385265 | KMT2B | c.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 |
19 | g.35730012C>A | CA405418849 | KMT2B | c.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) | |
19 | g.35730012C= | CA2333793089 | KMT2B | c.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=) | |
19 | g.35730012C>G | CA405418851 | KMT2B | c.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) | |
19 | g.35730012C>T | CA507072555 | KMT2B | c.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 |
19 | g.35730013T>A | CA405418854 | KMT2B | c.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 |
19 | g.35730013T>C | CA405418856 | KMT2B | c.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) | |
19 | g.35730013T>G | CA405418858 | KMT2B | c.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) | |
19 | g.35730014G>A | CA507072561 | KMT2B | c.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=) | |
19 | g.35730014G>C | CA507072563 | KMT2B | c.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=) | |
19 | g.35730014G>T | CA507072565 | KMT2B | c.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=) | |
19 | g.35730014_35730017delinsGTCC | CA2333793090 | KMT2B | c.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=) | |
19 | g.35730015T>A | CA405418859 | KMT2B | c.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) | |
19 | g.35730015T>C | CA405418861 | KMT2B | c.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) | |
19 | g.35730015T>G | CA405418863 | KMT2B | c.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) | |
19 | g.35730019_35730021del | CA920100903 | KMT2B | c.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 |
19 | g.35730016C>A | CA405418865 | KMT2B | c.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) | |
19 | g.35730016C>G | CA405418868 | KMT2B | c.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) | |
19 | g.35730016C>T | CA405418870 | KMT2B | c.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 |
19 | g.35730017C>A | CA507072572 | KMT2B | c.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=) | |
19 | g.35730017C= | CA2333793091 | KMT2B | c.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=) | |
19 | g.35730017C>G | CA9385267 | KMT2B | c.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 |
19 | g.35730017C>T | CA9385266 | KMT2B | c.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 |
19 | g.35730018T>A | CA405418877 | KMT2B | c.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) | |
19 | g.35730018T>C | CA405418879 | KMT2B | c.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) | |
19 | g.35730018T>G | CA405418881 | KMT2B | c.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) | |
19 | g.35730019C>A | CA405418884 | KMT2B | c.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) | |
19 | g.35730019C>G | CA405418886 | KMT2B | c.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) | |
19 | g.35730019C>T | CA405418888 | KMT2B | c.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) | |
19 | g.35730020C>A | CA507072576 | KMT2B | c.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=) | |
19 | g.35730020C= | CA2333793092 | KMT2B | c.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=) | |
19 | g.35730020C>G | CA307792946 | KMT2B | c.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 |
19 | g.35730020C>T | CA507072577 | KMT2B | c.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=) | |
19 | g.35730021T>A | CA405418891 | KMT2B | c.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) | |
19 | g.35730021T>C | CA405418893 | KMT2B | c.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) | |
19 | g.35730021T>G | CA405418895 | KMT2B | c.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) | |
19 | g.35730022_35730023insTGTGTG | CA2333793093 | KMT2B | c.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 |
19 | g.35730022G>A | CA405418897 | KMT2B | c.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) | |
19 | g.35730022G>C | CA405418898 | KMT2B | c.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) | |
19 | g.35730022G>T | CA405418899 | KMT2B | c.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) | |
19 | g.35730023C>A | CA405418900 | KMT2B | c.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) | |
19 | g.35730023C= | CA2333793094 | KMT2B | c.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=) | |
19 | g.35730023C>G | CA405418901 | KMT2B | c.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) | |
19 | g.35730023C>T | CA9385268 | KMT2B | c.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 |
19 | g.35730024C>A | CA405418902 | KMT2B | c.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) | |
19 | g.35730024C>G | CA405418904 | KMT2B | c.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 |
19 | g.35730024C>T | CA405418903 | KMT2B | c.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) | |
19 | g.35730025T>A | CA405418905 | KMT2B | c.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) | |
19 | g.35730025T>C | CA405418907 | KMT2B | c.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) | |
19 | g.35730025T>G | CA405418906 | KMT2B | c.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) | |
19 | g.35730026C>A | CA507072584 | KMT2B | c.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=) | |
19 | g.35730026C>G | CA507072585 | KMT2B | c.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=) | |
19 | g.35730026C>T | CA507072586 | KMT2B | c.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=) | |
19 | g.35730027A= | CA2333793095 | KMT2B | c.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=) | |
19 | g.35730027A>C | CA405418908 | KMT2B | c.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) | |
19 | g.35730027A>G | CA307792958 | KMT2B | c.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 |
19 | g.35730027A>T | CA405418909 | KMT2B | c.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) | |
19 | g.35730028G>A | CA405418910 | KMT2B | c.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) | |
19 | g.35730028G>C | CA405418912 | KMT2B | c.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) | |
19 | g.35730028G>T | CA405418911 | KMT2B | c.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) | |
19 | g.35730029C>A | CA405418913 | KMT2B | c.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) | |
19 | g.35730029C>G | CA405418914 | KMT2B | c.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) | |
19 | g.35730029C>T | CA507072595 | KMT2B | c.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 |
19 | g.35730030A>C | CA405418915 | KMT2B | c.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) | |
19 | g.35730030A>G | CA405418919 | KMT2B | c.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) | |
19 | g.35730030A>T | CA405418917 | KMT2B | c.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) | |
19 | g.35730031A>C | CA405418923 | KMT2B | c.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) | |
19 | g.35730031A>G | CA405418927 | KMT2B | c.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) | |
19 | g.35730031A>T | CA405418925 | KMT2B | c.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) | |
19 | g.35730032C>A | CA405418929 | KMT2B | c.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) | |
19 | g.35730032C= | CA2333793096 | KMT2B | c.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=) | |
19 | g.35730032C>G | CA405418930 | KMT2B | c.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) | |
19 | g.35730032C>T | CA507072600 | KMT2B | c.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 |
19 | g.35730033T>A | CA405418933 | KMT2B | c.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) | |
19 | g.35730033T>C | CA405418935 | KMT2B | c.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) | |
19 | g.35730033T>G | CA405418937 | KMT2B | c.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 |
19 | g.35730034T>A | CA405418940 | KMT2B | c.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) | |
19 | g.35730034T>C | CA405418942 | KMT2B | c.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) | |
19 | g.35730034T>G | CA405418945 | KMT2B | c.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) | |
19 | g.35730035C>A | CA405418948 | KMT2B | c.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 |
19 | g.35730035C= | CA2333793097 | KMT2B | c.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=) | |
19 | g.35730035C>G | CA405418950 | KMT2B | c.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) | |
19 | g.35730035C>T | CA9385269 | KMT2B | c.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 |
19 | g.35730036C>A | CA405418954 | KMT2B | c.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) | |
19 | g.35730036C>G | CA405418959 | KMT2B | c.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) | |
19 | g.35730036C>T | CA405418956 | KMT2B | c.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) | |
19 | g.35730037A= | CA2333793098 | KMT2B | c.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=) | |
19 | g.35730037A>C | CA405418962 | KMT2B | c.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 |
19 | g.35730037A>G | CA405418964 | KMT2B | c.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) | |
19 | g.35730037A>T | CA405418966 | KMT2B | c.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) | |
19 | g.35730038C>A | CA405418969 | KMT2B | c.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) | |
19 | g.35730038C>G | CA405418971 | KMT2B | c.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) | |
19 | g.35730038C>T | CA507072612 | KMT2B | c.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 |
19 | g.35730039T>A | CA405418973 | KMT2B | c.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) | |
19 | g.35730039T>C | CA405418975 | KMT2B | c.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) | |
19 | g.35730039T>G | CA405418977 | KMT2B | c.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) | |
19 | g.35730040T>A | CA405418982 | KMT2B | c.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) | |
19 | g.35730040T>C | CA405418983 | KMT2B | c.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) | |
19 | g.35730040T>G | CA405418980 | KMT2B | c.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) | |
19 | g.35730041C>A | CA405418985 | KMT2B | c.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) | |
19 | g.35730041C>G | CA405418986 | KMT2B | c.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) | |
19 | g.35730041C>T | CA507072616 | KMT2B | c.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=) | |
19 | g.35730042A>C | CA405418988 | KMT2B | c.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) | |
19 | g.35730042A>G | CA405418990 | KMT2B | c.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) | |
19 | g.35730042A>T | CA405418992 | KMT2B | c.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) | |
19 | g.35730043T>A | CA405418995 | KMT2B | c.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) | |
19 | g.35730043T>C | CA405418996 | KMT2B | c.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) | |
19 | g.35730043T>G | CA405418998 | KMT2B | c.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) | |
19 | g.35730044G>A | CA405419001 | KMT2B | c.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) | |
19 | g.35730044G>C | CA405419003 | KMT2B | c.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) | |
19 | g.35730044G>T | CA405419005 | KMT2B | c.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) |