Table 2.
Polymorphisms | Location in exon | Predicted codon change | Alleles frequency in USH2A patients | Alleles in control chromosomesa |
---|---|---|---|---|
c.373G>A, | 2 | p.A125T | 20/40 | |
c.b IVS19-44delG | 19 | 2/40 | 0/100 | |
c.4457G>A | 21 | p.R1486K | 24/40 | |
c.4714C>T | 22 | p.L1572F | 4/40 | |
c.b IVS23+5G>T | 23 | 3/40 | 0/100 | |
c.4994T>G | 25 | p.I1665T | 2/40 | |
c.5013C>A | 25 | p.G1671G | 2/40 | |
c.b IVS28-34delC | 28 | 4/40 | 8/100 | |
c.6506T>C | 34 | p.I2169T | 2/40 | |
c.b IVS36+8T>G | 36 | 1/40 | 11/100 | |
c.8624G>A | 43 | p.R2875Q | 1/40 | |
c.8656C>T | 43 | p.I2886E | 1/40 | |
c.b IVS47-79G>A | 47 | 1/40 | 4/100 | |
c.b IVS49+51-3delA | 49 | 1/40 | 3/100 | |
c.9595A>Gb | 49 | p.N3199D | 1/40 | |
c.10232A>C | 52 | p.E3411A | 12/40 | |
c.b12093C>T | 62 | p.Y4031Y | 1/40 | 2/100 |
c.b12612A>G | 63 | p.T4204T | 7/40 | 0/100 |
c.13191G>A | 63 | p.E4397E | 2/40 | |
c. 13297G>Tb | 63 | p.V4433L | 1/40 | 4/100 |
c.b IVS71-24T>C | 71 | 1/40 | 0/100 |
Only newly detected polymorphisms are tested in normal controls for their presence.
New changes in this study.