Table S1 - Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Analysis of allelic variants for their effect on splicing. Analysis of 46 variants identified in AIPL1 using the Human splicing finder version 2.4.1 reporting the results from the HSF matrix. The values for the wild type and mutant sequences are showed. The larger the difference between the values the greater that change that the variant can affect the splice site. (DOC)