Table 2.

Summary of SLC4A11 Mutations Identified in Six Families with CHED

Family	Population	Mutation		Zygosity	GnomAD*	Czech Alleles	Pathogenicity Evidence	References
		DNA	Protein
C2	European Czech	c.1216+1G>A	“p.?”	HET	0	0	Predicted pathogenic	Novel
		c.2411G>A	p.(Arg804His)	HET	3/245,612	0	Decreased level of matured mutant protein compared with wild type	24, 25
C3	European Czech	c.2263C>T	p.(Arg755Trp)	HOM†	2/244,792	0	Endoplasmic reticulum retained, misfolded protein	24, 26–28
C4	European Czech	c.2527_2529del	p.(Leu843del)	HET	0	0	Predicted pathogenic	29
		c.1237G>A	p.(Gly413Arg)	HET	0	1/4,528	Predicted pathogenic	Novel
C5	European Czech	c.625C>T	p.(Arg209Trp)	HET	3/246,062	0	Endoplasmic reticulum retained, misfolded protein	24, 28
		c.2240+5G>A	p.Thr747*	HET	0	0	Splicing defect verified by cDNA analysis (current study)	Novel
B1	European British	c.2240+1G>A	“p.?”	HET	6/276,692	0	Predicted pathogenic	27, 29
		c.427G>A	p.(Glu143Lys)	HET	1/246,144	0	Endoplasmic reticulum retained, misfolded protein	24, 27, 30
B2	European British	c.2003T>C	p.(Leu668Pro)	HET†	4/244,724	0	Predicted pathogenic	Novel
		c.2528T>C	p.(Leu843Pro)	HET†	6/276,968	0	Endoplasmic reticulum retained, misfolded protein	1, 24

p.? refers to unknown effect on protein structure. HET, heterozygous; HOM, homozygous.

^*Heterozygous allele count/total number of alleles.

^†Segregation analysis not performed, hence possibility of a deletion or existence of a possibly pathogenic intronic variant in a trans configuration exists.