Skip to main content
. 2013 Feb 25;8(2):e57506. doi: 10.1371/journal.pone.0057506

Table 6. Genotypes of the five USH1 patients and the two family healthy carriers of USH1 mutations presented in this study.

Patient Gene Allele 1/Allele 2
RP-1481* MYO7A c.6_9dup (p.L4DfsX39) (exon2)/+
RP-1546* MYO7A c.640G>A (p.G214R) (exon7)/+
RP-115 MYO7A c.3508G>A (p.E1170K) (exon 28)/c.3238A>T (p.K1080X) (exon 25)
RP-1479 MYO7A c.5581C>T (p.R1861X) (exon 40)/c.5581C>T (p.R1861X) (exon 40)
RP-280 MYO7A c.5856G>A (p.K1952K) (exon 42)/c.1190C>A (p.A397D) (exon 11)
RP-1534 CDH23 c.2289+1G>A (intron 21)/c.6049G>A (p.G2017S) (exon46)
RP-928 CDH23 c.8722+1delG (intron 60)/c.6511delC (exon48)

Family healthy carriers are indicated with an asterisk (*).