Table 2. Novel mutations in USH2A identified in this study.
DNA change | Exon | Protein change | Type of nucleotide change | Family number | Frequency |
---|---|---|---|---|---|
c.99_100insT |
2 |
p.R34fs |
Heterozygous |
F4 |
0/200 |
c.8483delC |
42 |
p.S2828fs |
Heterozygous |
F5 |
0/200 |
c.8559–2A>G |
43 |
Exon43DEL |
Heterozygous |
F3,F4 |
0/200 |
c.9450G>A |
48 |
p.W3150X |
Heterozygous |
F5 |
0/200 |
c.11806A>C | 61 | p.T3936P | Heterozygous | F3 | 0/200 |
The "Frequency" column, shows the number of chromosomes.