Table 1. Nxf1 mutations causing... | American Society of Hematology

Table 1.

Nxf1 mutations causing lymphopenia and thrombocytopenia

Mutation	Location of mutation	Nucleotide change	Type of mutation	Predicted effect
Plt42	19:8 757 261	T>G	N/A	Splice donor site
Plt43	19:8 769 146	T>C	S574P	Missense
Plt54	19:8 770 261	T>C	C587R	Missense
Plt64	19:8 764 557	T>C	I285T	Missense
Plt69	19:8 768 666	T>G	N/A	Splice donor site

Mutation	Location of mutation	Nucleotide change	Type of mutation	Predicted effect
Plt42	19:8 757 261	T>G	N/A	Splice donor site
Plt43	19:8 769 146	T>C	S574P	Missense
Plt54	19:8 770 261	T>C	C587R	Missense
Plt64	19:8 764 557	T>C	I285T	Missense
Plt69	19:8 768 666	T>G	N/A	Splice donor site