Table 2.

Polymorphisms detected in the USH2A gene in Usher type II patients and in normal controls

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

^aOnly newly detected polymorphisms are tested in normal controls for their presence.

^bNew changes in this study.