Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing

Table 2 Variants identified by whole exome sequencing

No	Gene	Inheritance	Reference sequence	Nucleotide change	Amino-acid change	Genetic subregion	Heterogeneity	Chromosomal Loci	Mutation type	Reference
Case 7	MYO18B	AR	NM_032608	c.522C > T	p.D174D	EX4	Het	chr22:26164405	Likely pathogenic	-
	MYO18B	AR	NM_032608	c.1675G > A	p.E559K	EX6	Het	chr22:26166934	Likely pathogenic	-
Case 19	PAX1	AR	NM_006192	c.555G > A	p.K185K	EX2	Het	chr20:21687344	Uncertain	-
	PAX1	AR	NM_006192	c.1159C > T	p.L387F	EX4	Het	chr20:21689959	Likely pathogenic	-
Case 9	FGFR2	AD	NM_000141	c.1750A > G	p.M584V	EX13	Het	chr10:123256159	Likely pathogenic	-
Case 14	FGFR2	AD	NM_000141	c.1213A > G	p.K405E	EX9	Het	chr10:123274705	Likely pathogenic	-

ISSN: 1750-1172