Table 2 of García-García, Mol Vis 2012; 18:3070-3078.

Table 2. Mutations identified in the CLRN1 gene in the Spanish USH population.

Nucleotide change Exon Predicted effect No. of alleles No. of families References
c.118C>T 0 p.C40G 2 1 [22]
c.189C>A 0 p.Y63X 9 3 [9]
c.503T>A 3 p.I168N 1 1 Present Study
c.619C>T 3 p.R207X 2 2 Present Study

The novel mutations detected in this study are marked in bold. The reference sequence for nomenclature is NM_174878.2. Column 4 indicates the number of mutated alleles in the total Spanish USH series. Column 5 indicates the number of families in which the mutation was detected.

García-García, Mol Vis 2012; 18:3070-3078. http://www.molvis.org/molvis/v18/a314

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