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. 2012 Nov 21;7(11):e49984. doi: 10.1371/journal.pone.0049984

Table 2. Novel SLC26A4 variants found in Chinese hearing loss population.

No. Variants Exon Amino Acid TM Domain
Variants in exons
1 c.43_44insG 2 FS 15,stop at 86 NH2
2 c.68C>A 2 p.S23X NH2
3 c.87G>C 2 p.E29D NH2
4 c.234_235delC 3 FS79,stop at 96 NH2
5 c.249G>A 3 p.W83X NH2
6 c.279T>A 3 p.S93R NH2
7 c.665G>T 6 p.G222V TM5
8 c.757A>G 6 p.I253V EC LOOP 3
9 c.941C>T 8 p.S314L TM7
10 c.1019_1020delT 9 FS 341,stop at 343 EC LOOP 4
11 c.1124A>G 9 p.Y375C IC LOOP 4
12 c.1240G>A 10 p.E414K EC LOOP 5
13 c.1245C>A 10 p.S415R EC LOOP 5
14 c.1299_1300insC 11 FS 434,stop at 467 TM10
15 c.1327G>C 11 p.E443Q IC LOOP 5
16 c.1409G>A 12 p.R470H EC LOOP6
17 c.1472T>C 13 p.I491T TM12
18 c.1517T>G 13 p.L506R COOH
19 c.1595G>T 14 p.S532I COOH
20 c.1645_1646insA 15 FS 549,stop at 563 COOH
21 c.1678G>A 15 p.D560H COOH
22 c.1733_1735delATA 16 N579 lost, stop at 780 COOH
23 c.1897G>A 17 p.E633K COOH
24 c.1979T>G 17 p.L660R COOH
25 c.1983C>A 17 p.D661E COOH
26 c.1985G>A 17 p.C662Y COOH
27 c.1988G>A 17 p.G663E COOH
28 c.1993A>G 17 p.I665V COOH
29 c.2044G>T 18 p.E682X COOH
30 c.2176A>G 19 p.I726V COOH
31 c.2228T>A 19 p.L743X COOH
32 c.2326C>G 21 p.R776G COOH
Variants in spicing site
33 IVS4+2T>C (415+2T>C) intron4 Spicing site
34 IVS13+5G>A (1544+5G>A) intron13 Spicing site
Variant in UTR
35 2343+69C>A 21
Silent variants
36 c.225C>G 3 p.L75L NH2
37 c.678T>C 6 p.A226A TM5
38 c.1905G>A 17 p.E635E COOH
39 c.2205T>G 19 p.S735S COOH
40 c.2217A>G 19 p.Q739Q COOH
41 c.2283A>G 20 p.T761T COOH
Variants in introns
42 intron4-12T>A intron4
43 intron7+(44_46delACA) intron7
44 intron9-(28_35)delTTTGTAGG intron9
45 intron 12-(7_13)insT intron12
46 intron18-(53_56)delCAAA intron18
47 intron19-25T>A intron19

FS:frameshift;X:stop codon;del:delete.