Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report

Table 1 Functional prediction of SLC26A2 mutations

Chr.	Position	Gene symbol	Transcript variant	Protein variant	MutationTaster score	PolyPhen-2	SIFT score
5	149359980	SLC26A2	c.824 T > C	p.Leu275Pro	0.999	0.999	0.000
5	149360354	SLC26A2	c.1198C > T	p.Leu400Phe	0.999	1.000	0.002

ISSN: 1471-2350