Skip to main content

Table 1 Summary of small variants (<50 bp) identified in the present study

From: Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family

Family member

All variants (% novel)

Missense (% deleterious)

Splice site (% essential)

Frameshift

5'UTR

3'UTR

Stop gained

Stop lost

III.8

129 262 (1.23)

11 250 (27.44)

3 260 (5.58)

202

5 791

32 408

119

58

IV.3

126 973 (1.27)

11 023 (27.59)

3 194 (6.20)

214

5 823

31 995

120

55

IV.4

127 625 (1.27)

11 135 (27.05)

3 149 (5.84)

210

5 733

31 881

114

55

IV.1

126 148 (1.17)

11 006 (27.40)

3 119 (5.67)

206

5 684

31 545

125

60

IV.6

127 419 (1.29)

11 022 (27.05)

3 219 (5.87)

218

5 767

31 843

122

58

V.10

127 737 (1.13)

11 043 (27.45)

3 158 (5.67)

203

5 797

32 413

121

52

V.8

128 147 (1.16)

11 056 (27.30)

3 196 (5.79)

218

5 749

32 288

112

56

V.9

127 099 (1.15)

11 001 (27.52)

3 192 (6.17)

218

5 752

32 165

118

55

V.11

129 014 (1.38)

11 382 (27.56)

3 220 (6.06)

204

5 814

32 512

126

56