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.