Table 1.

Individuals with an identified de novo or suspected de novo missense mutation in AHDC1

Individual #	Nucleotide change	Protein change	Data type	Source
1	c.139C>T	p.Pro47Ser	exome sequencing	XGS Registry
2	c.1459C>T	p.Arg487Trp	exome sequencing	GeneDx
3	c.1610G>A	p.Gly537Asp	comprehensive NGS panel; microarray	XGS Registry
4	c.1642G>A	p.Gly548Ser	WGS/targeted sequencing	DECIPHER (#287553)
5	c.1646G>A	p.Arg549His	exome sequencing; SNP array	DECIPHER (#370261)
6	c.1819G>A	p.Asp607Asn	exome sequencing	XGS Registry
7	c.2374G>C	p.Gly792Arg	exome sequencing; CGH array	XGS Registry, GeneDx
8	c.4042T>C	p.Ser1348Pro	exome sequencing	DECIPHER (#277992)
9	c.4370A>G	p.Asp1457Gly	exome sequencing	PMID 30858058
10a	c.4432C>T	p.Pro1478Ser	exome sequencing	XGS Registry

Individuals who joined the XGS Registry also contributed clinical data for this study. The source of data for the other individuals is indicated. Other genetic tests that were also administered are noted under the data type. NGS, next-generation sequencing; WGS, whole-genome sequencing; CGH, comparative genomic hybridization.

^aSuspected de novo mutation.