Table 2 of Gupta, Mol Vis 2022; 28:203-219.

Table 2. Summary of novel disease-causing mutations identified in our case series-continued (M) and (P) indicate confirmed maternal and paternal inherited allele variants by genetic testing, respectively.

Subject Gene Allele 1 (A1) Allele 2 (A2)
PT23 PDE6B c.2003A>T, p.Asp668Val c.2193+1G>A (M)
PT24 PDE6B c.1933_1938delTACCAG (in-frame), p.Tyr645_Gln646del c.2038C>T, p.Q680X (M)
PT25 POC1B c.114G>A, p.Trp38Ter (M) c.114G>A, p.Trp38Ter
PT26 POC1B c.934delA, p.Arg312GlufsTer32 (P) c.631A>G, p.Lys211Glu (M)
PT27 PROM1 c.1234delT, p.Tyr412Metfs*34 (M) N/A
PT28 PROM1 c.1234delT, p.Tyr412Metfs*34 N/A
PT29 PROM1 c.2198_2199delCT, p.Ser733CysfsTer4 N/A
PT30 PROM1 c.2198_2199delCT, p.Ser733CysfsTer4 N/A
PT31 RDH12 c.63_66delCATC, p.Ile22GlyfsTer19 (M) c.63_66delCATC, p.Ile22GlyfsTer19
PT32 RDH12 c.749T>C, p.Leu250Pro (M) c.189delA, p.Ala64ProfsTer11
PT33 RDH5 c.733+6T>C (M) c.814_815delCT, p. p.Leu272AspfsTer63
PT34 RP1 c.4746C>A, p.Cys1582Ter (exon 4) c.2025dupA, p.Ser676Ilefs*22 (exon 4)
PT35 RP1L1 c.4396G>A, p.Glu1466Lys N/A
PT36 RP2 c.663delT, p.Pro222GlnfsTer16 (M) N/A
PT37 RPGR c.2945_2964delAAGAGGAGGAAGGAGAAGGG, p.Glu982GlyfsTer90 (M) N/A
PT38 RS1 c.322_326+3delTTTGGGTAinsCT N/A
PT39 RS1 c.511G>A p.Gly171Arg hemizygous (M) N/A
PT40 SNRNP200 c.1662C>G, p.Ser554Arg (M) N/A
PT41 TRPM1 c.2741 C>A, p.Ala914Glu (P) c.3004A>T, p. Ile1002Phe (M)
PT42 USH2A c.133335_13343del9 (in-frame), p.Glu4445_Met4447del and c.13346_13347CT>TG, p.Ser4449Phe (M) c.14219C>A, p.Ala4740Asp
PT43 USH2A c.1256G>T, p.Cys419Phe (P) Large exon 27 deletion (M)
PT44 VPS13B Exon 40-43 duplication (M/P) Exon 40-43 duplication (M/P)