Table 1.
Family ID | Gene | Mut name | Amino acid change | Exon intron ID | Zygous | Chr:por:mut | Functional change | G1000_AF | dbSNP_AF | ESP6500_AF | ExAC_AF | Clinical significance | Reference |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARRP‐01:II‐1 | EYS | c.9252_9253insT | p.Ser3084Serfs9 | EX44/CDS41 | Hom | chr6:63720841:G>GA | Frameshift | 0 | 0 | 0 | 0 | P | Novel |
ARRP‐01:II‐2 | EYS | c.9252_9253insT | p.Ser3084Serfs9 | EX44/CDS41 | Hom | chr6:63720841:G>GA | Frameshift | 0 | 0 | 0 | 0 | P | Novel |
ARRP‐01:II‐4 | EYS | c.9252_9253insT | p.Ser3084Serfs9 | EX44/CDS41 | Het | chr6:63720841:G>GA | Frameshift | 0 | 0 | 0 | 0 | P | Novel |
ARRP‐02:II‐1 | EYS | c.5644+2T>C | — | Intron26 | Het | chr6:64590221:A>G | SpliceDonor | 0 | 0 | 0 | 0 | P | Novel |
EYS | c.1920_1923delTGAG | p.Cys640Stopfs1 | EX12/CDS9 | Het | chr6:65295962:TCTCA>T | Frameshift | 0 | 0 | 0 | 0 | P | Novel | |
OPN1SW | c.235G>A | p.Gly79Arg | EX1 | Het | chr7:128775556:C>T | Missense | 0.001 | 0.0003994 | 0.0002 | 0.0002553 | P | Weitz et al. (1992) | |
ARRP‐02:I‐1 | EYS | c.1920_1923delTGAG | p.Cys640Stopfs1 | EX12/CDS9 | Het | chr6:65295962:TCTCA>T | Frameshift | 0 | 0 | 0 | 0 | P | Novel |
ARRP‐02:I‐2 | EYS | c.5644+2T>C | — | Intron26 | Het | chr6:64590221:A>G | SpliceDonor | 0 | 0 | 0 | 0 | P | Novel |
ARRP‐02:II‐3 | EYS | c.5644+2T>C | — | Intron26 | Het | chr6:64590221:A>G | SpliceDonor | 0 | 0 | 0 | 0 | P | Novel |
EYS | c.1920_1923delTGAG | p.Cys640Stopfs1 | EX12/CDS9 | Het | chr6:65295962:TCTCA>T | Frameshift | 0 | 0 | 0 | 0 | P | Novel |
Abbreviation: P, pathogenic; LP, likely pathogenic; VUS, uncertain clinical significance.