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. 2014 Mar 14;9(3):e91962. doi: 10.1371/journal.pone.0091962

Table 3. Candidate exome sequence variants shared by all affected individuals and filtered by database.

Chr:Position Gene Mutation Mode Mutation type dbSNP ID Maternal Allele Paternal Allele SIFT/Polyphen2 Stargardt Gene
chr01:94520830 ABCA4 exon16:c.C2424G:p.Y808X heterozygous stopgain Novel Yes Stop codon, N/A N/A
chr01:9452825 ABCA4 exon13:c.G1819A:p.G607R heterozygous nonsynonymous rs61749412 Yes Damaging/ probably damaging Yes

N/A, Not available.