Table 2. Sequencing of parent samples to determine NOTCH1 variant inheritance.

Amino acid change	Ref	Alt	LOF	Impact	Inheritance status
p.G200V	C	A	NO	Missense variant	DE NOVO
p.C292Y	C	T	NO	Missense variant	FROM UNAFFECTED MOTHER
p.R448X	G	A	YES	Stop gained	DE NOVO
p.Q1495K	G	T	NO	Missense variant	FROM UNAFFECTED FATHER
p.C1549Y	C	T	NO	Missense variant	DE NOVO
p.W1638X	C	T	YES	Stop gained	DE NOVO
p.N1875S	T	C	NO	Missense variant	DE NOVO

Ref, reference allele; Alt, alternate allele; loss of function