. 2023 Oct 5;17:91. doi: 10.1186/s40246-023-00535-y

Table 1.

Details of all four families with parental mosaicism (pathogenic/likely pathogenic/variant of uncertain significance) in this study

Family	Gene	Origin	Sample Type	Variant detected by trio ES with peripheral blood				Variant detected by Sanger	Variant detected by BDA/BDA-qPCR		Variant detected by dPCR/ddPCR		Type of Mosaicism
Family	Gene	Origin	Sample Type	Reference count	Variant count	Total count	VAF (%)	Variant detected by Sanger	Enriched	VAF (%)	Total chambers/droplets	VAF (%)	Type of Mosaicism
14	CHD7	Maternal	Blood	Unknown (ES by third party)				No	No	Not tested	Not tested		Paternal gonadal mosaicism
		Maternal	Buccal	Not tested				No	No	Not tested	10,286	< 0.01
		Paternal	Blood	Unknown (ES by third party)				No	No	Not tested	14,649	< 0.01
			Buccal	Not tested				No	No	Not tested	14,446	< 0.01
			Semen	Not tested				Yes	Yes	Not tested	41,644	13.9
15	FLNC	Maternal	Blood	12	0	12	0.0	No	No	< 0.1	16,628	< 0.01	Paternal gonosomal mosaicism
		Maternal	Buccal	Not tested				No	No	Not tested	17,538	< 0.01
		Paternal	Blood	8	2	10	20.0	Yes	Yes	12.7	17,905	22.2
			Buccal	Not tested				Yes	Yes	8.7	36,218	21.3
			Semen	Not tested				Yes	Yes	22.7	17,510	35.9
17	^#EYA1	Maternal	Blood	24	4	28	14.3	Yes	Not tested	Not tested	17,284	21.7	Maternal gonosomal mosaicism
17	^#EYA1	Paternal	Blood	17	0	17	0.0	No	Not tested	Not tested	Not tested		Maternal gonosomal mosaicism
18	EBF3	Maternal	Blood	117	17	134	12.7	Yes	Not tested	Not tested	10,203	18.4	Maternal gonosomal mosaicism
		Maternal	Buccal	Not tested				Yes			12,506	29.6
		Paternal	Blood	107	0	107	0.0	No			Not tested

^#Previously reported family. VAF: Variant allele frequency; BDA: blocker displacement amplification; ES: exome sequencing; qPCR: quantitative polymerase chain reaction; dPCR: digital PCR; ddPCR: droplet dPCR