Table 1.

Mutations in the CRYBB2, GJA8, and CHMP4B genes were identified in six Chinese Han families with CCs.

Family ID	Gene	Position (GRCh37/hg19)	Exon	Base change	Amino acid change	Inheritance patterns	MAF (%) in 1000G/dbSNP/gnomAD	PolyPhen-2/SIFT/PROVEAN/Mutation Taster	Reported previously
CC1/CC2/CC3	CRYBB2	chr22:25627683	6	c.562C>T	p.R188C	AD	NA/NA/NA	PrD/D/D/DC	(16)
CC4	GJA8	chr1:147380146	2	c.64G>C	p.G22R	AD	NA/NA/NA	PrD/D/D/DC	No
CC5	GJA8	chr1:147380508-147380522	2	c.426_440delGCTGGAGGGGACCCT	p.143_147delLEGTL	AD	NA/NA/NA	-	(17)
CC6	CHMP4B	chr20:32439986	4	c.587C>G	p.S196C	AD	NA/NA/NA	PrD/D/D/DC	No

Chr, chromosome; AD, autosomal dominant; NA, these variants were absent from the 1,000 Genome, the dbSNP, and the gnomAD databases; PrD, probably damaging; D, damaging in SIFT and deleterious in PROVEAN; DC, Disease causing; -, not applicable.