VISION VARIATION DATABASE

  HGVS protein change HGVS nucleotide change Variant Locale Genomic position (Hg19) Variant Type Phenotype
NM_205861:p.Lys42Glu NM_205861:c.124A>G EXON3 chr1:26764719:A>G Probable highly penetrant allele Retinitis pigmentosa, autosomal recessive
NM_205861:p.Lys42Glu NM_205861:c.124A>G EXON3 chr1:26764719:A>G Probable highly penetrant allele Retinitis pigmentosa, autosomal recessive
NM_205861:p.Arg47Gln NM_205861:c.140G>A EXON3 chr1:26764735:G>A Benign
NM_205861:p.Arg47Gln NM_205861:c.140G>A EXON3 chr1:26764735:G>A Benign
NM_205861:p.Arg47Leu NM_205861:c.140G>T EXON3 chr1:26764735:G>T
NM_205861:p.Arg47Leu NM_205861:c.140G>T EXON3 chr1:26764735:G>T
NM_205861:p.Leu131Pro NM_205861:c.392T>C EXON5 chr1:26772875:T>C
NM_205861:p.Leu131Pro NM_205861:c.392T>C EXON5 chr1:26772875:T>C
NM_205861:p.Leu188Leu NM_205861:c.564T>C EXON7 chr1:26784303:T>C Benign
NM_205861:p.Leu188Leu NM_205861:c.564T>C EXON7 chr1:26784303:T>C Benign
NM_205861:p.Thr206Ala NM_205861:c.616A>G EXON7 chr1:26784355:A>G Possible highly penetrant allele
NM_205861:p.Thr206Ala NM_205861:c.616A>G EXON7 chr1:26784355:A>G Possible highly penetrant allele
NM_205861:p.Val253Met NM_205861:c.757G>A EXON8 chr1:26786627:G>A Benign
NM_205861:p.Val253Met NM_205861:c.757G>A EXON8 chr1:26786627:G>A Benign