Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy

Table 4 The Overall Spectrum of TSPAN12 Variants Found in This Study

Sample	Gene	Nucleotide changes	Protein changes	Reference	Effect	Mutation	Splice	SPIDEX	gnomAD	ACMG	Heredity
Sample	Gene	Nucleotide changes	Protein changes	Reference	Effect	Taster	AI	SPIDEX	gnomAD	ACMG	Heredity
FEVR 13	TSPAN12	c.402G>T	p.R134S	Novel	Missense	DC	–	0.2613	–	VUS	AD
FEVR 29	TSPAN12	c.352G>T	p.E118X	Reported	Nonsense	DC	–	− 52.5689	–	P	AD
FEVR 40	TSPAN12	c.287A>G	p.Y96C	Novel	Missense	DC	F(0.06)	− 0.1202	–	VUS	AD
FEVR 45	TSPAN12	c.232G>A	p.G78R	Novel	Missense	DC	–	0.079	−	VUS	AD
FEVR 48	TSPAN12	c.612+1G>A	–	Reported	Splice variation	DC	T(1)	− 30.3463	–	P	AD
FEVR 50	TSPAN12	c.149+2T>C	–	Novel	Splice variation	DC	T(0.91)	− 8.9528	–	LP	AD
FEVR 104	TSPAN12	c.360G>A	p.M120I	Novel	Missense	DC	T(0.74)	− 0.6573	–	VUS	AD
FEVR 106	TSPAN12	c.449G>A	p.W150X	Novel	Nonsense	DC	–	− 48.1427	–	LP	AD
FEVR 113	TSPAN12	c.146C>T	p.T49M	Reported	Missense	DC	F(0.03)	− 5.0843	0.00000399	LP	AD

DC disease causing, LP Likely pathogenic, P Pathogenic, VUS variants of uncertain significance, AD autosomal dominant

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