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. 2020 Jan 15;8(3):e1117. doi: 10.1002/mgg3.1117

Table 1.

Genetics finding in the two families with retinitis pigmentosa

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.