Table 2.

Sequence variants identified in PTK7.

Patient Number	cDNA Change	Protein Change	Variant Type	Position	Gnomad_Exome_ALL	Gnomad_Exome_EAS	Gnomad_Genome_ALL	Gnomad_Genome_EAS	CADD	Ployphen-2 HDV Score	Evidence of Pathogenicity by ACMG	ACMG Classification
SCO1905P0038	c.464_465delAC	p.H155Pfs*16	Frameshift	43097560	0	0	0	0	NA	NA	PVS1+PM2+PP3	Pathogenic
SCO2003P2127	c.1394A>G	p.K465R	Missense	43109684	0	0	0.00003247	0.0006	26.2	0.997	PP3	Uncertain significance
SCO2003P0372	c.1879G>A	p.G627R	Missense	43112206	0.00004873	0.0006	0.00003232	0.0006	26.9	0.986	PP3	Uncertain significance
SCO1908P0053 SCO2003P0541	c.1955G>T	p.R652L	Missense	43112282	0.00007718	0.0005	0	0	23.6	0.947	PP3	Uncertain significance
SCO1907P0150	c.49C>T	p.L17F	Missense	43044275	0	0	0	0	19.95	0.997	PM2	Uncertain significance
SCO2003P0632	c.353C>T	p.S118F	Missense	43096988	0	0	0	0	25.6	0.982	PM2	Uncertain significance
SCO2003P2288	c.2290G>A	p.D764N	Missense	43114395	0.00000814	0.000058	0	0	23.8	0.114	PM1+PP3	Uncertain significance
SCO2003P2237	c.2384G>A	p.R795H	Missense	43126607	0.00000406	0	0.00003231	0	30	0.986	PM1+ +PP3	Uncertain significance

The RefSeq transcript sequence used for PTK7 is NM_152881.3. Abbreviations: NA, not available. ACMG, American College of Medical Genetics and Genomics. PVS, pathogenic very strong. PM, pathogenic moderate. PP, supporting pathogenicity.