Table 2.

Summary of molecular genetic findings for select individuals

Ind	Sex	Molecular Effect	Amino acid substitution	GPX4 variant
18	M	NS	p.(Tyr127*)	Not available for affected child
				GPX4(NM_001039848.1):c.381C > A both parents
19	F	FS	Exon 4 splice error	GPX4(NM_001039848.1):c.587 + 5G > A;
		PT	Exon 5 skip	GPX4(NM_001039848.1):c.588-8_588-4del
20	M	FS	p.(His52fs*1)	GPX4(NM_002085.4):c.153_160del
21	F	FS	p.(His52fs*1)	GPX4(NM_002085.4):c.153_160del
22	M	NS	(p.(Gly148Argfs*?));	GPX4(NM_001039848.1):c.441dup maternal;
			(p.(Pro138Arg))	GPX4(NM_001039848.1):c.413C > G paternal
23	F	MS	p.Arg152His	GPX4(NM_001039848.2):c.647G > A;homozygous
24	M	MS	p.Arg152His	GPX4(NM_001039848.2):c.647G > A, homozygous
25	M	MS	p.Arg152His	GPX4(NM_001039848.2):c.647G > A, homozygous

NS, nonsense; MS, missense; FS, frame shift; PT, premature truncation. When available, variants are listed from the individuals in question, and are listed from parents when noted. References included in Table 1