Table 1 of
Gupta, Mol Vis 2022; 28:203-219. 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) |
| PCDH21 | |||
| 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) |
| USH2C | |||
| 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 |