Table 3

Non-synonymousCDH23mutations considered to be non-causative variants in 16 hearing-loss patients and 30 Korean exomes
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.

Woo et al.

Woo et al. BMC Medical Genetics 2014 15:46   doi:10.1186/1471-2350-15-46

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