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. 2008 Nov 17;14:2067–2075.

Table 2. Novel mutations in USH2A identified in this study.

DNA change Exon Protein change Type of nucleotide change Family number Frequency
c.99_100insT
2
p.R34fs
Heterozygous
F4
0/200
c.8483delC
42
p.S2828fs
Heterozygous
F5
0/200
c.8559–2A>G
43
Exon43DEL
Heterozygous
F3,F4
0/200
c.9450G>A
48
p.W3150X
Heterozygous
F5
0/200
c.11806A>C 61 p.T3936P Heterozygous F3 0/200

The "Frequency" column, shows the number of chromosomes.