Table 2.

De novo mutations of ARID1B identified in two cases

Cases	Sex	Location (GRCh37/hg19)	Nucleotide	Amino acid	Zygosity	dbSNP ID	Origin	ACMG	Population frequencies	Impact
2	Female	chr6:157,431,696	c.2332 + 1G > A	–	Het	–	De novo	PVS1 + PS2 + PM2	–	Splicing donor loss
3	Female	chr6:157,522,259	c.4741C > T	p.Q1581X	Het	rs1554235831	De novo	PVS1 + PS2 + PM2	–	Stop gain

Het, heterozygous; X, stop codon; PVS1, pathogenic very strong, represent “loss-of-function”; PS2, pathogenic strong, 2 represent “de novo”; PM2; pathogenic moderate, 2 represent “absent from controls”