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. 2006 Nov;43(11):e55. doi: 10.1136/jmg.2006.041764

Table 3 Presumed non‐pathological variants found in the last 52 exons of USH2A.

Exon Nucleotide change Codon change Allele frequency
22 4714C→T L1572F 11/64
25 4994T→C I1665T 18/64
25 5013C→A G1671G 7/64
IVS30+76A→T 1/64
32 6317T→C I2106T 15/64
34 6506T→C I2169T ND
35 6713A→C E2238A 2/64
IVS36+19A→G 4/64
IVS38–65T→G 3/64
40 7506G→A P2502P 3/64
IVS40+22C→T 3/64
43 8624G→A R2875Q 2/64
43 8656C→T L2886F ND
IVS44–52_53delTT 2/64
47 9296A→G N3099S 4/64
48 9430G→A D3144N 2/64
52 10232A→C E3411A 23/64
IVS52–26T→C ND
IVS58+9A→T 10/64
IVS59+98G→A 8/64
60 11602A→G M3868V 8/64
61 11736G→A E3912E 1/64
61 11907A→T P3969P 1/64
63 12666A→G T4222T 14/64
63 13191G→A E4397E 7/64
IVS71–194A→T 2/64

ND, not determined; –, it can be missed.

Allele frequency referred to patient sample.

Reference sequence for the USH2A gene AY481573.