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Table 1 Previously-reported and likely pathogenic deafness mutations found in 79 patient samples examined in this study

From: Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness

Category

# of occurrence

SampleID

Gene name

Position on Chr

Mutation

Category I

16

Ot3271

GJB2

Chr13: 20763612 C > T

NM_004004:exon2: c. G109A: p. V37I

  

Ot3275

WFS1

Chr4: 6303680 A > G

NM_001145853:exon8: c. A2158G: p. I720V, NM_006005:exon8: c. A2158G: p. I720V

  

Ot3212

GJB2

Chr13: 20763486 del G

NM_004004:exon2: c.235delC: p. L79fs

  

Ot3213

SLC26A4

Chr7: 107323898 A > G

NM_000441:exon8: c.919-2A > G

  

Ot3227

GJB2

Chr13: 20763612 C > T

NM_004004:exon2: c. G109A: p. V37I

  

Ot3230

SLC26A4

Chr7: 107323898 A > G

NM_000441:exon8: c.919-2A > G

  

Ot3241

GJB2

Chr13: 20763612 C > T

NM_004004:exon2: c. G109A: p. V37I

  

Ot3242

GJB2

Chr13: 20763612 C > T

NM_004004:exon2: c. G109A: p. V37I

  

Ot3252

GJB2

Chr13: 20763612 C > T

NM_004004:exon2: c. G109A: p. V37I

  

Ot3255

GJB2

Chr13: 20763486 del G

NM_004004:exon2: c.235delC: p. L79fs

  

Ot3256

SLC26A4

Chr7: 107323898 A > G

NM_000441:exon8: c.919-2A > G

  

Ot3258

SLC26A4

Chr7: 107323898 A > G

NM_000441:exon8: c.919-2A > G

  

Ot3260

GJB2

Chr13: 20763486 del G

NM_004004:exon2: c.235delC: p. L79fs

  

Ot3266

SLC26A4

Chr7: 107323898 A > G

NM_000441:exon8: c.919-2A > G

  

Ot3276

GJB2

Chr13: 20763486 del G

NM_004004:exon2: c.235delC: p. L79fs

  

Ot3284

SLC26A4

Chr7: 107323898 A > G

NM_000441:exon8: c.919-2A > G

Category III

5

Ot3226

DSPP

Chr4: 88537078 ins CGATAGCAG

NM_014208:exon5: c.3264_3265insCGATAGCAG:p. S1088delinsSRX

  

Ot3243

DSPP

Chr4: 88537270 ins TAGCAGCGATAGCAGCGA

NM_014208:exon5: c.3456_3457insTAGCAGCGATAGCAGCGA:p. D1152delinsDX

  

Ot3256

DSPP

Chr4: 88537078 ins CGATAGCAG

NM_014208:exon5: c.3264_3265insCGATAGCAG:p. S1088delinsSRX

  

Ot3266

DSPP

Chr4: 88537078 ins CGATAGCGG

NM_014208:exon5: c.3264_3265insCGATAGCGG:p. S1088delinsSRX

  

Ot3270

DSPP

Chr4: 88537078 ins CGATAGCAA

NM_014208:exon5: c.3264_3265insCGATAGCAA:p. S1088delinsSRX

Category V

1

Ot3209

ESRRB

Chr14: 76905712 A > G

NM_004452:exon4: c. A16G: p. R6G

Category VII

7

Ot3217

DSPP

Chr4: 88537088 A > G

NM_014208:exon5: c. A3274G: p. N1092D

  

Ot3242

COCH

Chr14: 31358873 A > G

NM_001135058:exon11: c. A1529G: p. K510R, NM_004086:exon12: c. A1529G: p. K510R

  

Ot3260

DSPP

Chr4: 88537088 A > G

NM_014208:exon5: c. A3274G: p. N1092D

  

Ot3268

MYO6

Chr6: 76576249 A > G

NM_004999:exon17: c. A1681G: p. R561G

  

Ot3270

DSPP

Chr4: 88537088 A > G

NM_014208:exon5: c. A3274G: p. N1092D

  

Ot3284

SOX2

Chr3: 181430197 A > G

NM_003106:exon1: c. A49G: p. T17A

  

Ot3284

DSPP

Chr4: 88537088 A > G

NM_014208:exon5: c. A3274G: p. N1092D

  1. The definition of each category is given in the Additional file 2: Table S2.
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