Table 2 NIPT for recessive inheritance of rs713040 from pregnant maternal blood.

Sample	Fetal Fraction	VAF	Num. Mol.	LR	NIPT	Neonate GT
30B	0.153	0.477	8616	1.0e − 44	normal	0/0
31B	0.171	0.478	304	1.5e − 02	normal	0/0
08A	0.134	0.478	2092	3.5e − 09	normal	0/0
56C	0.325	0.482	663	7.2e − 12	normal	0/1
39A	0.079	0.498	1868	2.3e − 02	normal	0/1
63B	0.225	0.505	1386	2.4e − 08	normal	0/1
47F	0.308	0.508	1319	6.2e − 14	normal	0/1
09B	0.208	0.521	1601	1.3e − 04	normal	0/1
38A	0.112	0.568	2328	7.9e + 07	affected	1/1
25B	0.242	0.569	360	1.7e + 01	affected	1/1
40E	0.184	0.570	573	2.1e + 02	affected	1/1
50C	0.179	0.586	1085	3.4e + 06	affected	1/1
17B	0.219	0.603	1611	1.8e + 14	affected	1/1

NIPT analysis was performed on pregnant mothers who are heterozygous for the rs713040 variant. NIPT was considered ‘affected’ if fetal genotype was inferred as homozygous variant (1/1), and ‘normal’ for heterozygous (0/1) or homozygous reference (0/0).

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