Table 4 Pathogenicity prediction of SLC25A19 variants

From: Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4

Patients	Gene	Transcript	Variants		SIFT	Plyphen-2	Mutation taster	CADD
1	SLC25A19	NM_00112 6122	c.169G>C	p.Ala57Thr	D	PD	D	D
1	SLC25A19	NM_00112 6122	c.383C>T	p.Ala128Val	D	PD	D	D
2 and 3			c.76G>A	p.Gly26Arg	D	PD	D	D
2 and 3			c.745T>A	p.Phe249Ile	D	PD	D	D

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