Table 2. Ethnic-specific MAF and in silico pathogenicity prediction of CDH23 variants in our study.

Variant	Patient	dbSNP	In-house exome from KNIH (n = 700)	KRG database (n = 622)	Genotyping (n = 384)	SGI (n = 1020)	Score in Pph2/ SIFT/ GERP	MAF in composite cohort	ExAC	1000 Genomes
p.T1618K (c.C4853A)	SH59-133 (Pediatric)	No data	0/1400	Not detected in unknown number	0/768	0/2040	Probably Damaging/ Damaging / 5.9	0% (0/4208)	N/A	N/A
p.P240L (c.C719T)	SH59-133 SH151-324 SB116-208 (Pediatric & Adult)	rs121908354 (flagged)				1/2040	Possibly Damaging/ Damaging/ 5.19	0.05% (1/2040)	0.00009	0.0002
p.D2202N (c.G6604A)	SH62-147 (Adult)	rs121908349 (flagged)	0/1400	Not detected in unknown number	0/768	0/2040	Probably Damaging/ Damaging/ 5.06	0% (0/4208)	0.000008	N/A
p.A1713D (c.C5138A)	SB210-412 (Adult)	No data				0/2040	Probably Damaging/ Damaging/ 5.4	0% (0/2040)	N/A	N/A
p.P402L (c.C1205T)	SB210-412 (Adult)	rs373168635 (Non-flagged)				0/2040	Probably Damaging/ Tolerated/ 4.91	0% (0/2040)	0.00003	N/A
p.R1588W (c.C4762T)	SH151-324 (Adult)	rs137937502	4/1400	2/1244	1/768	1/2040	Probably Damaging/ Damaging/ 3.24	0.15% (8/5452)	0.0002	0.0008
p.R1916H (c.G5747A)	SH62-147 (Adult)	rs746971522	3/1400	2/518	0/764	0/2040	Probably Damaging/ Damaging/ 4.28	0.11% (5/4722)	0.00006	N/A

KRG, Korean Reference Genome (http://152.99.75.168/KRGDB); ExAC, Exome Aggregation Consortium (http://exac.broadinstitute.org/); 1000 Genomes (https://www.ncbi.nlm.nih.gov/variation/tools/1000genomes/); N/A, not applicable