Skip to main content
. 2006 Nov;43(11):e55. doi: 10.1136/jmg.2006.041764

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.