Table 2.
List of pathogenic and likely pathogenic variants in positively diagnosed cases
| Case ID | Gene | HGNC gene ID | MOI | Variant description in HGVS |
|---|---|---|---|---|
| HKGP003011-1 | ABCA4 | HGNC:34 | AR | NM_000350.3:c.3055A > G p.(Thr1019Ala) |
| HKGP003011-1 | ABCA4 | HGNC:34 | AR | NM_000350.3:c.1804C > T p.(Arg602Trp) |
| HKGP003071-1 | CEP290 | HGNC:29,021 | AR | NM_025114.4:c.1616del p.(Leu539Ter) |
| HKGP003071-1 | CEP290 | HGNC:29,021 | AR | NM_025114.4:c.6798G > A p.(Trp2266Ter) |
| HKGP003648-1 | CEP290 | HGNC:29,021 | AR | NM_025114.4:c.6798G > A p.(Trp2266Ter) |
| HKGP003648-1 | CEP290 | HGNC:29,021 | AR | NM_025114.4:c.3802C > T p.(Gln1268Ter) |
| HKGP003628-1 | CHM | HGNC:1940 | AD | NM_000390.4:c.1019C > A p.(Ser340Ter) |
| HKGP003466-1 | CNGA1 | HGNC:2148 | AR | NM_001379270.1:c.1675G > C p.(Ala559Pro) |
| HKGP003466-1 | CNGA1 | HGNC:2148 | AR | NM_001379270.1:c.253del p.(Leu85PhefsTer4) |
| HKGP003627-1 | CNGA1 | HGNC:2148 | AR | NM_001379270.1:c.253del p.(Leu85PhefsTer4) Homozygous |
| HKGP002721-1 | CYP4V2 | HGNC:23,198 | AR | NM_207352.4:c.802-8_810delinsGC p.? Homozygous |
| HKGP002725-1 | CYP4V2 | HGNC:23,198 | AR | NM_207352.4:c.802-8_810delinsGC p.? |
| HKGP002725-1 | CYP4V2 | HGNC:23,198 | AR | NM_207352.4:c.1091-2A > G p.? |
| HKGP003469-1 | CYP4V2 | HGNC:23,198 | AR | NM_207352.4:c.802-8_810delinsGC p.? Homozygous |
| HKGP002724-1 | EYS | HGNC:21,555 | AR | NM_001142800.2:c.6557G > A p.(Gly2186Glu) |
| HKGP002724-1 | EYS | HGNC:21,555 | AR | NM_001142800.2:c.7492G > C p.(Ala2498Pro) |
| HKGP002996-1 | EYS | HGNC:21,555 | AR | NM_001142800.2:c.6416G > A p.(Cys2139Tyr) |
| HKGP002996-1 | EYS | HGNC:21,555 | AR | NM_001142800.2:c.2486del p.(Ile829ThrfsTer39) |
| HKGP003637-1 | EYS | HGNC:21,555 | AR | NM_001142800.2:c.7228 + 1G > A p.? Homozygous |
| HKGP003656-1 | MYOC | HGNC:7610 | AD | NM_000261.2:c.1495A > T p.(Ile499Phe) |
| HKGP003646-1 | PDE6B | HGNC:8786 | AR | NM_000283.4:c.1133G > A p.(Trp378Ter) Homozygous |
| HKGP002727-1 | RCBTB1 | HGNC:18,243 | AR | NM_018191.4:c.1262_1263del p.(Tyr421SerfsTer31) |
| HKGP002727-1 | RCBTB1 | HGNC:18,243 | AR | NM_018191.4:c.707del p.(Asn236ThrfsTer11) |
| HKGP002986-1 | RHO | HGNC:10,012 | AD | NM_000539.3:c.180C > A p.(Tyr60Ter) |
| HKGP003634-1 | RPGR | HGNC:10,295 | XLD | NM_001034853.2:c.442G > T p.(Gly148Ter) Hemizygous |
| HKGP002989-1 | TOPORS | HGNC:21,653 | AD | NM_005802.5:c.59dup p.(Pro21AlafsTer8) |
| HKGP002718-1 | USH2A | HGNC:12,601 | AR | NM_206933.4:c.10637G > A p.(Gly3546Glu) |
| HKGP002718-1 | USH2A | HGNC:12,601 | AR | NM_206933.4:c.5581G > A p.(Gly1861Ser) |
| HKGP002722-1 | USH2A | HGNC:12,601 | AR | NM_206933.4:c.15178 T > C p.(Ser5060Pro) |
| HKGP002722-1 | USH2A | HGNC:12,601 | AR | NM_206933.4:c.2653C > T p.(His885Tyr) |
| HKGP002874-1 | USH2A | HGNC:12,601 | AR | NM_206933.4:c.9570 + 1G > A p.? Homozygous |
| HKGP002991-1 | USH2A | HGNC:12,601 | AR | NM_206933.4:c.8254G > A p.(Gly2752Arg) |
| HKGP002991-1 | USH2A | HGNC:12,601 | AR | NM_206933.4:c.5572 + 1G > A p.? |
| HKGP002994-1 | USH2A | HGNC:12,601 | AR | NM_206933.4:c.449 T > G p.(Leu150Ter) |
| HKGP002994-1 | USH2A | HGNC:12,601 | AR | NM_206933.4:c.9570 + 1G > A p.? |
| HKGP003075-1 | USH2A | HGNC:12,601 | AR | NM_206933.4:c.2802 T > G p.(Cys934Trp) |
| HKGP003075-1 | USH2A | HGNC:12,601 | AR | NM_206933.4:c.8559-2A > G p.? |
| HKGP003468-1 | USH2A | HGNC:12,601 | AR | NM_206933.4:c.7184_7194del p.(Leu2395HisfsTer19) |
| HKGP003468-1 | USH2A | HGNC:12,601 | AR | NM_206933.4:c.5530C > T p.(Gln1844Ter) |