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