Table 1.

List of Variants Identified in TAOK1 in This Study

Individual	Chr	Position (GRCh37/hg19)	Ref	Alt	cDNA (GenBank: NM_020791.2)	Protein (GenBank: NP_065842.1)	Country of Origin	Sex	CADD score12 (v1.4)	De Novo	GnomAD	ACMG Scoring38	Pathogenicity
Initial Exome Screening
1	17	27778616	A	G	c.50A>G	p.Glu17Gly	SA	F	23.2	yes	not reported	PS2, PM2	likely path
2	17	27822638	A	G	c.892A>G	p.Lys298Glu	Israel	M	27	yes	not reported	PS2, PM2	likely path
3	17	27857617	G	T	c.2341G>T	p.Glu781∗	SA	M	42	yes	not reported	PVS1, PS2, PM2	path
Additional Carriers (Centogene)
4	17	27822660	A	C	c.914A>C	p.Asp305Ala	Israel	F	27.6	yes	not reported	PS2, PM2	likely path
5	17	27837936	C	T	c.1630C>T	p.Gln544∗	Finland	M	38	yes	not reported	PVS1, PS2, PM2	path
Additional Carriers (GeneMatcher)
6	17	27804704	C	T	c.332C>T	p.Ser111Phe	Germany	F	26.8	yes	not reported	PS2, PM2	likely path
7	17	27861140	G	GC	c.2366_2367insC	p.Leu790Phefs∗3	Norway	M	35	yes	not reported	PVS1, PS2, PM2	path
8	17	27861262	G	T	c.2488G>T	p.Glu830∗	Germany	M	46	yes	not reported	PVS1, PS2, PM2	path

Abbreviations are as follows: Chr—chromosome, Ref—reference allele, Alt—alternate allele, De novo—parents available to confirm de novo status,

SA—Saudi Arabia, likely path—likely pathogenic, and path—pathogenic.