Table 3. ABCA4 variants in early-onset Stargardt patients from Radboud university medical center (Radboudumc) and Moorfields Eye Hospital (MEH).
| Radboudumc | ||||
| Patient | Variant 1 | Variant 2 | ||
| 1 | c.5461-10T>C | p.[Thr1821Valfs*13,Thr1821Aspfs*6] | c.5461-10T>C | p.[Thr1821Valfs*13,Thr1821Aspfs*6] |
| 2 | c.5461-10T>C | p.[Thr1821Valfs*13,Thr1821Aspfs*6] | c.214G>A | p.(Gly72Arg) |
| 3 | c.5461-10T>C | p.[Thr1821Valfs*13,Thr1821Aspfs*6] | c.5537T>C | p.(Ile1846Thr) |
| 4 | c.768G>T | p.(?) | c.1822T>A | p.(Phe608Ile) |
| 5 | c.3033-?_3364+?del | p.(?) | c.5714+5G>A | p.(?) |
| 6 | c.5461-10T>C | p.[Thr1821Valfs*13,Thr1821Aspfs*6] | c.5337C>A | p.(Tyr1779*) |
| 7 | c.286A>G | p.(Asn96Asp) | c.286A>G | p.(Asn96Asp) |
| 8 | c.5461-10T>C | p.[Thr1821Valfs*13,Thr1821Aspfs*6] | c.4773+1G>A | p.(?) |
| 9 | c.1622T>C;3113C>T | p.[Leu541Pro;Ala1038Val] | c.6316C>T | p.(Arg2106Cys) |
| 10 | c.768G>T | p.(?) | c.768G>T | p.(?) |
| 11 | c.3033-?_3364+?del | p.(?) | c.5714+5G>A | p.(?) |
| 12 | c.4128+1G>A | p.(?) | c.3259G>A | p.(Glu1087Lys) |
| 13 | c.4128+1G>A | p.(?) | c.3259G>A | p.(Glu1087Lys) |
| 14 | c.4139C>T | p.(Pro1380Leu) | c.2160+1G>T | p.(?) |
| MEH | ||||
| Patient | Variant 1 | Variant 2 | ||
| 1 | c.3191-1G>T | p.(?) | c.4139C>T | p.(Pro1380Leu) |
| 2 | c.4462T>C | p.(Cys1488Arg) | c.4462T>C | p.(Cys1488Arg) |
| 3 | c.6079C>T | p.(Leu2027Phe) | c.3322C>T | p.(Arg1108Cys) |
| 4 | c.6479+1G>A | p.(?) | c.6479+1G>A | p.(?) |
| 5 | c.6479+1G>A | p.(?) | c.6479+1G>A | p.(?) |
| 6 | c.4469G>A | p.(Cys1490Tyr) | c.3197T>G | p.(Met1066Arg) |
| 7 | c.4253+4C>T | p.(?) | c.4253+4C>T | p.(?) |
| 8 | c.5461-10T>C | p.[Thr1821Valfs*13,Thr1821Aspfs*6] | c.3299T>A | p.(Ile1100Asn) |
| 9 | c.768G>T | p.(?) | c.4139C>T | p.(Pro1380Leu) |
| 10 | c.3081T>G | p.(Tyr1027*) | c.3081T>G | p.(Tyr1027*) |
| 11 | c.6286G>A | p.(Glu2096Lys) | c.2894A>G | p.(Asn965Ser) |
| 12 | c.4577C>T | p.(Thr1526Met) | c.3322C>T | p.(Arg1108Cys) |
| 13 | c.93G>A | p.(Trp31*) | c.2522A>C | p.(Gln841Pro) |
| 14 | c.4139C>T | p.(Pro1380Leu) | c.1957C>T | p.(Arg653Cys) |
| 15 | c.6729+4_6729+18del | p.(?) | c.6729+4_6729+18del | p.(?) |
| AGTTGGCCCTGGGGC | AGTTGGCCCTGGGGC | |||
| 16 | c.5714+5G>A | p.(?) | c.1622T>C;3113C>T | p.[Leu541Pro;Ala1038Val] |
| 17 | c.6729+4_6729+18del | p.(?) | c.6729+4_6729+18del | p.(?) |
| AGTTGGCCCTGGGGC | AGTTGGCCCTGGGGC | |||
| 18 | c.2912C>A | p.(Thr971Asn) | c.2912C>A | p.(Thr971Asn) |
del = deletion, fs = frame shift, ins = insertion
* = stop codon.