Table 1 UNC13D gene mutations of FHL3... | American Society of Hematology

Table 1

UNC13D gene mutations of FHL3 patients

Patient	Age at onset	Gender	Mutation	Genotype	Predicted effect
P1	14 days	Female	c.1596 + 1G → C	Homo	Splice error
P2	2 months	Male	c.322–1G → A	Hetero	Splice error
			c.990G → C	Hetero	p.Q330H
			c.3193C → T	Hetero	p.R1065X
P3	12 months	Female	c.754–1G → C	Hetero	Splice error
			c.2485delC	Hetero	p.L829fs
P4	4 months	Female	c.754–1G → C	Hetero	Splice error
			c.1799C → T	Hetero	p.T600M
			c.1803C → A	Hetero	p.Y601X
P5	2 months	Female	c.754–1G → C	Hetero	Splice error
			c.1596 + 1G → C	Hetero	Splice error
P6	5 months	Male	ND	ND	ND

Patient	Age at onset	Gender	Mutation	Genotype	Predicted effect
P1	14 days	Female	c.1596 + 1G → C	Homo	Splice error
P2	2 months	Male	c.322–1G → A	Hetero	Splice error
			c.990G → C	Hetero	p.Q330H
			c.3193C → T	Hetero	p.R1065X
P3	12 months	Female	c.754–1G → C	Hetero	Splice error
			c.2485delC	Hetero	p.L829fs
P4	4 months	Female	c.754–1G → C	Hetero	Splice error
			c.1799C → T	Hetero	p.T600M
			c.1803C → A	Hetero	p.Y601X
P5	2 months	Female	c.754–1G → C	Hetero	Splice error
			c.1596 + 1G → C	Hetero	Splice error
P6	5 months	Male	ND	ND	ND

Mutations were checked for single nucleotide polymorphisms using the dbSNP Build 132 database from the National Center for Biotechnology Information.

X indicates stop; fs, frame shift; and ND, not determined.