. 2021 Aug 10;2(4):100049. doi: 10.1016/j.xhgg.2021.100049

Table 3.

Additional genetic findings in individuals with AHDC1 de novo missense mutations

Case #	Gene(s)	Nucleotide change	Amino acid change	Zygosity	Inheritance pattern	gnomAD AC/AF	Predicted pathogenicity
1	AHDC1	c.139C>T	p.Pro47Ser	heterozygous	de novo	0/0	likely benign
	FAT3	c.10151A>G	p.Asp3384Gly	heterozygous	de novo	0/0	likely pathogenic
	SERPINA1	c.863A>G	p.Glu288Val	heterozygous	maternal	0/0	uncertain significance
3	AHDC1	c.1610G>A	p.Gly537Asp	heterozygous	de novo	0/0	likely pathogenic
	ANK3	c.6715C>T	p.Arg2239Cys	heterozygous	paternal	13/0.00005	uncertain significance
	APC2	c.4958G>A	p.Arg1653Gln	heterozygous	paternal	58/0.0004	uncertain significance
	C5orf42	c.8397A>C	p.Lys2799Asn	heterozygous	maternal	0/0	uncertain significance
	SON	c.313A>G	p.Thr105Ala	heterozygous	paternal	9/0.0004	uncertain significance
	TTC19	c.380A>G	p.Tyr127Cys	heterozygous	paternal	0/0	uncertain significance
	TPM3, C1orf189, C1orf43, UBAP2L, HAX1, MIR190B	microdeletion within 1q21.3	(154,150,447-154,255,258)x1	heterozygous	unknown	NA	uncertain significance
6	AHDC1	c.1819G>A	p.Asp607Asn	heterozygous	de novo	0 / 0	likely pathogenic
	DNAH14	c.409C>T	p.Arg137∗	heterozygous	paternal	198/0.0007	uncertain significance
	DNAH14	c.13548A>T	p.∗4516Tyrfs∗5	heterozygous	maternal	1,216/0.007	uncertain significance
7	AHDC1	c.2374G>C	p.Gly792Arg	heterozygous	de novo	0/0	uncertain significance
	NPHP1	microdeletion within 2q13	(110,199,004-110,337,690)x1	heterozygous	paternal	NA	uncertain significance
	ATP11, CXorf661, MIR505	duplication within Xq27.1	(138,699,164-139,089,567)x3	heterozygous	maternal	NA	uncertain significance
8^a	AHDC1	c.4042T>C	p.Ser1348Pro	heterozygous	de novo	0/0	likely pathogenic
	HUWE1	c.9070G>A	p.Ala3024Thr	hemizygous	de novo	0/0	likely pathogenic
	NEB	c.9139C>A	p.His3047Asn	heterozygous	paternal	191/0.0005	benign
	NEB	c.7343G>A	p.Arg2448His	heterozygous	maternal	33/0.00008	benign

Data for individuals 1, 3, 6, and 7 were from the XGS Registry. Individual 10, also in the XGS Registry, did not report additional considered variants. AC/AF, allele count/allele frequency.

Data for individual 8, not in the Registry, were provided with consent by the individual’s health provider. Predicted pathogenicity was assessed using VarSome as described in Subjects and methods.