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Table 3 A literature review of some mutations in RDH5 gene associated with fundus albipunctatus

From: Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus

Nucleotide Change Amino Acid Change Reference
c.417G > T p.Gly139Val [6]
c.346G > C p.Gly116Arg [6]
c.710A > C p.Tyr237Ser [6]
c.55A > G p.Arg19Gly [6]
c.416G > T p.Gly139Val [6]
c.928delCinGAAG Leu310 to GluVal [45]
c.500G > A p.Arg167His [45, 46]
c.719insG p.Ala240Glyfs17 [45]
c.175 T > A p.Cys59Ser [47]
c.285G > A p.Trp95Ter [47]
c.124C.T p.Arg42Cys [46]
c.524A > T p.Tyr175Phe [48]
c.712G > T p.Gly238Trp [14]
c.832C.T p.Arg278Ter [42]
c.71_74delTGCC p.Leu24Profs*36 [49]
c.160C > T p.Arg54* [49]
c.382G > A p.Asp128Asn [49,50,51]
c.572G > A p.Arg191Gln [49]
c.833G > A p.Arg278Gln [49]
c.95delT p.Phe32Serfs*29 [51]
c.625C > T p.Arg209* [51]
c.98 T > A p.Ile33Asn [52]
c.103G > A p.Gly35Ser [25, 26]
c.319G > C p.Gly107Arg [25, 27, 53]
c.718dupG p.Ala240Glyfs*19 [25]
c.394 G > A p.Val132Met [25]
c.839G > A p.Arg280His [25, 53,54,55]
c.469C > T p.Arg157Trp [43]
c.530 T > G p.Val177Gly [54]
c.470G > A p.Arg157Gln [6, 56]
c.490G > T p.Val164Phe [23]
c.500G > A p.Arg167His [2]
c.758 T > G p.Met253Arg [57]
c.791 T > G p.Val264Gly [41]
c.833G > A p.Arg278Gln [49]
c.801C > G p.Cys267Trp [58]
c.841 T > C p.Tyr281His [25]