Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing

Woo, Hae-Mi; Park, Hong-Joon; Park, Mi-Hyun; Kim, Bo-Young; Shin, Joong-Wook; Yoo, Won Gi; Koo, Soo Kyung

doi:10.1186/1471-2350-15-46

BMC Medical Genetics

Table 3 Non-synonymous CDH23 mutations considered to be non-causative variants in 16 hearing-loss patients and 30 Korean exomes

From: Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing

	Genomic positions (hg19)	Exon	Nucleotide change	Amino acid change	dbSNP135_full	Deaf samples (16)	Korean control exomes¹	Reference
1	Chr10:73337715	9	c.798delA	p.Gly266fs	.	1 (SR-255S)	0/128	Novel
2	Chr10:73377097	11	c.G1081T	p.Ala361Ser	.	.	1/30	Novel
3	Chr10:73405717	12	c.G1270A	p.Val424Met	rs2305207	.	1/30	rs2305207
4	Chr10:73405729	12	c.G1282A	p.Asp428Asn	rs188376296	1 (SR-68)	2/128	rs188376296
5	Chr10:73434888	14	c.G1469C	p.Gly490Ala	rs1227049	8	14/30	[5]
6	Chr10:73434906	14	c.G1487A	p.Ser496Asn	rs10999947	7	54/128	[5]
7	Chr10:73464825	24	c.G2891A	p.Arg964Gln²	.	1 (SR-153)	0/128	Novel
8	Chr10:73466729	25	c.G3029A	p.Arg1010His	.	.	1/30	Novel
9	Chr10:73472553	27	c.G3352A	p.Gly1118Ser²	.	1 (SR-931)	0/328	Novel
10	Chr10:73492032	31	c.T4004C	p.Val1335Ala	.	.	1/30	Novel
11	Chr10:73492079	31	c.A4051G	p.Asn1351Asp	rs1227065	16	29/30	[5]
12	Chr10:73498355	33	c.G4310A	p.Arg1437Gln	rs56181447	5	8/30	[5]
13	Chr10:73501595	36	c.C4762T	p.Arg1588Trp	.	.	1/30	[5]
14	Chr10:73501556	36	c.G4723A	p.Ala1575Thr	rs1227051	16	28/30	[5]
15	Chr10:73537614	37	c.G5023A	p.Val1675Ile	rs17712523	8	7/30	[5]
16	Chr10:73544086	40	c.G5411A	p.Arg1804Gln	rs3802711	10	16/30	[5]
17	Chr10:73544093	40	c.C5418G	p.Asp1806Glu	rs74145660	3	6/30	[5]
18	Chr10:73550117	44	c.C5996G	p.Thr1999Ser	rs11592462	6	8/30	[5]
19	Chr10:73550969	45	c.G6130A	p.Glu2044Lys	rs10466026	12	26/30	[5]
20	Chr10:73558128	48	c.G6847A	p.Val2283Ile³	rs41281334	1 (SR-1016)	3/128	[5]
21	Chr10:73558886	49	c.G7073A	p.Arg2358Gln	rs4747194	12	26/30	[5]
22	Chr10:73558952	49	c.C7139T	p.Pro2380Leu	rs4747195	12	26/30	[5]
23	Chr10:73562763	52	c.A7591G	p.Met2531Val	.	.	1/30	Novel
24	Chr10:73567365	57	c.T8401G	p.Phe2801Val³	rs3802707	.	2/30	[5]
25	Chr10:73571307	62	c.G9238A	p.Ala3080Thr	.	1 (SR-1016)	3/128	Novel
26	Chr10:73571765	64	c.T9373C	p.Phe3125Leu	rs45583140	2	15/30	rs45583140

¹Exome data for 30 or 128 Koreans from another study.
²Rule out non-segregation.
³Reported as a variant with uncertain pathogenic.

Back to article page

ISSN: 1471-2350

Contact us

General enquiries: ORSupport@springernature.com