Table 1 Novel mutations found in this study.
Mutation | Exon | Nucleotide change | No of families |
---|---|---|---|
Mis‐sense | |||
A2249D | 35 | 6746C→A | 1 |
R2354H | 37 | 7061G→A | 1 |
C3251R | 50 | 9751T→C | 1 |
C3267R | 50 | 9799T→C | 1 |
T3571M | 54 | 10712C→T | 2 |
T4337M | 63 | 13010C→T | 1 |
P4818L | 66 | 14453C→T | 1 |
Frameshift | |||
R2095GfsX2 | 32 | 6238delA | 1 |
T2812MfsX17 | 42 | 8435_8438delCCTA | 1 |
C3425FfsX4 | 52 | 10272_10273dupTT | 1 |
Y3745fsX1 | 58 | 11234dupA | 1 |
F4703HfsX6 | 64 | 14110_14111insA | 1 |
Duplication | |||
Y3472dup | 53 | 10414_10416dupTAT | 1 |
Splicing | |||
IVS26+1C→G | 1 |
Reference sequence for the USH2A gene AY481573.