Table 2 The genotypes of TYR and/or OCA2 genes in OCA patients in reflex testing at NEI
Patient IDa | TYR | OCA2 | ||
|---|---|---|---|---|
Allele 1 | Allele 2 | Allele 1 | Allele 2 | |
NE1 | c.1118C>A (p.Thr373Lys) | |||
NE2 | Negative | c.1441G>A (p.Ala481Thr) | c.2228C>T (p.Pro743Leu) | |
NE3 | Negative | c.2228C>T (p.Pro743Leu) | ||
NE4 | c.346C>T (p.Arg116a) | c.896G>A (p.Arg299His) | Not tested | |
NE5b | Negative | Negative | ||
NE6 | c.816G>C (p.Trp272Cys) | c.1118C>A (p.Thr373Lys) | Not tested | |
NE7b | Negative | Negative | ||
NE8 | Negative | c.1327G>A (p.Val443Ile) | c.1842+1G>T (IVS17+1G>T) | |
NE9 | c.1217T>C (p.Pro406Leu) | c.1291C>A (p.Pro431Thr) | Not tested | |
NE10 | c.1217T>C (p.Pro406Leu) | c.1291C>A (p.Pro431Thr) | Not tested | |
NE11 | c.238T>C (p.Trp80Arg) | c.1037-7T>A (IVS2-7T>A) | Not tested | |
NE12 | Negative | c.1465A>G (p.Asn489Asp) | c.2310T>G (p.Tyr770a) | |
NE13 | Negative | c.1103C>T (p.Ala368Val) | ||
NE14 | c.929dupC (p.Arg311Lysfsa7) | c.929dupC (p.Arg311Lysfsa7) | Not tested | |
NE15 | c.157delA (p.Arg53Glyfsa49) | |||
NE16 | c.1118C>A (p.Thr373Lys) | Negative | ||
NE17 | Negative | c.1256G>A (p.Arg419Gln) VUS | ||
NE18 | Negative | c.632C>T (p.Pro211Leu) | c.1240-1G>C (IVS12-1G>C) | |
NE19 | Negative | c.1256G>A (p.Arg419Gln) VUS | ||
NE20 | Negative | c.1372G>A (p.Val443Ile) | ||
NE21 | c.1118C>A (p.Thr373Lys) | c.913C>T (p.Arg305Trp) VUS | ||
NE22 | c.242C>T (p.Pro81Leu) | c.913C>T (p.Arg305Trp) VUS | ||
NE23 | Negative | |||
NE24 | c.1037-1G>A (IVS2-1G>A) | c.1118C>A (p.Thr373Lys) | Not tested | |
NE25 | c.61C>T (p.Pro21Ser) | c.1037-7T>A (IVS2-7T>A) | Not tested | |
NE26 | c.1037-7T>A (IVS2-7T>A) | c.347G>T (p.Arg116Leu) | Not tested | |
NE27 | Negative | c.1103C>T (p.Ala368Val) | c.913C>T (p.R305W) | |
NE28 | Negative | |||
NE29 | c.1118C>A (p.Thr373Lys) | Not tested | ||
NE30 | c.229_230insAGG (p.Arg77delinsGlnGly) | c.913C>T (p.Arg305Trp) VUS | ||
NE31 | c.1366+4A>G (IVS4+4A>G) | Not tested | ||
NE32 | c.346C>T (p.Arg116a) | c.929dupC (p.Arg311Lysfsa7) | Not tested | |
NE33 | Negative | c.1256G>A (p.Arg419Gln) VUS | ||
NE34 | c.242C>T (p.Pro81Leu) | Not tested | ||
NE35 | c.1037-7T>A (IVS2-7T>A) | Not tested | ||
NE36 | Negative | c.1465A>G (p.Asn489Asp) | c.2228C>T (p.Pro743Leu) | |
NE37 | Negative | c.1327G>A (p.Val443Ile) | c.1327G>A (p.Val443Ile) | |
NE38 | Negative | |||
NE39 | c.242C>T (p.Pro81Leu) | c.1217C>T (p.Pro406Leu) | ||