Table 1 of Gupta, Mol Vis 2022; 28:203-219.

Table 1. Summary of novel disease-causing mutations identified in our case series.

Subject Gene Allele 1 (A1) Allele 2 (A2)
PT1 ABCA4 c.2603delC, p.Pro868HisfsTer33 (M) c.2894A>G, p.Asn965Ser
PT2 ABCA4 c.6213C>G, p.Tyr2071Ter c.6319C>T, p.Arg2107Cys
PT3 ABCA4 c.1304G>T, p.Gly435Val c.768+358C>T
PT4 ABCA4 c.4861A>T p. Asn1621Tyr c.5461-10T>C
PT5 AIPL1 c.146T>C, p.Ile49Thr (M) c.834G>A, p. Trp278Ter
PT6 BBS2 c.535-2A>G (M) c.535-2A>G (P)
PT7 BBS6/MKKS c.29C>A, p. Ser10Ter (M) c.155G>A, p.Gly52Asp (P)
PT8 BBS6/MKKS c.875T>G, p.Leu292Arg (M) c.875T>G, p.Leu292Arg (P)
PT9 BEST1 c.75C>A, p.Tyr25Ter (P) Exon 1-2 deletion (M)
PT10 BEST1 c.72G>T, p.Trp24Cys (M) N/A
PT11 CDH23 c.6254-3_6254CAGGinsT (p.?) c.6254-3_6254CAGGinsT (p.?)
PT12 CDHR1/ c.863-1G>A (IVS9-1G>A) (M) c.863-1G>A (IVS9-1G>A)
PT13 CHM c.117-1G>A N/A
PT14 CHM c.875A>C, p.Lys292Thr (M) N/A
PT15 CHM c.875A>C, p.Lys292Thr (M) N/A
PT16 CRB1 c.70+2T>C (P) c.71-24005_71-24004delAA (M)
PT17 EYS c.32dupT, p.Met12AspfsTer14 c.32dupT, p.Met12AspfsTer14
PT18 EYS IVS19+1G>T (M/P) IVS19+1G>T (M/P)
EYS c.4402G>C, p.Asp1468His (M/P) c.4402G>C, p.Asp1468His (M/P)
PT19 GPR98/ c.17314C>T, p.Arg5772Ter c.5111-68C>T (M)
PT20 MERTK c.1724delA, p.Asn575IlefsTer3 (M) c.2009T>A, p.Ile670Asn (P)
PT21 MYO7A c.133G>T, p.Glu45Ter c.4225deIC, p.Leu1409SerfsTer2 (M)
PT22 MYO7A c.1091dupC, p.Asp365ArgfsTer8 c.1563delC, p.Asp521GlufsTer8