Table 2.

The analysis of pathogenicity of the variants in KMT2E.

Case	Sex, age	Gene	Mutation	Inheritance	MAF			SIFT	Polyphen2	Mutation taster	dbscSNV ADA	dbscSNV RF
					ExAc	gnomAD	1000 genome
1	Female, 1	KMT2E	c.5417C>T	De novo	NE	0.00001469	NE	D	D	D	-	-
			p.Pro1806Leu
2	Male, 4	KMT2E	c.186G>A	De novo	NE	NE	NE	-	-	-	0.9984	0.832
			p.Ala62=

Transcript: NM_182931.3; MAF, minor allele frequency; NE, not exist.