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.