Table 2.

Genomic findings and variant interpretation for the TAOK1 variants identified in our patients

Patient	Genomic location	HGVS cDNA	HGVS protein	Zygosity/origin	Interpretation
1	Chr 17: 29530460	NM_020791.4: c.2203delA	TAOK1: p.(Arg735AspfsTer6)	Het/maternal	LP (PVS1, PM2, PP1)
2	Chr 17: 29530460	NM_020791.4: c.2203delA	TAOK1: p.(Arg735AspfsTer6)	Het/maternal	LP (PVS1, PM2, PP1)
3	Chr 17: 29451682	NM_020791.4:c.132 + 3_132 + 6del	TAOK1: p.(Phe44 + 3) splice	Het/de novo	LP (PS2, PM2, PP3a)
4	Chr 17: 29502709	NM_020791.4:c.1324C > T	TAOK1: p.(Arg442Trp)	Het/de novo	LP (PS2, PM2 PP3b)

Genomic coordinates reflect build GRCh38. Only phenotypes observed in at least two individuals are shown (see Supplemental Table 3 for full details).

^aPP3 was applied because of complete loss of donor splicing predicted by BDGP: Splice Site Prediction by Neural Network (fruitfly.org) (native score = 0.95, altered score = not found, threshold 0.1) and ESEFinder (Cartegni et al. 2003) 3.0 (cshl.edu) (native score = 5.41210, altered score = not found, threshold 1.0).

^bFor Patient 4, PP3 was applied because the majority of computational algorithms (18 of 25, including SIFT, MutationTaster, PROVEAN, PolyPhen-2, CADD, and others) reported by VarSome (Kopanos et al. 2019) predict pathogenicity.