Table 3.
Non-synonymous CDH23 mutations 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 exomes 1 | 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.