Table 3.
ABCA4 Intron 36 Variants and AFs in Population Databases
| Intron 36 Variant | cDNA Variant | Genomic Position (hg19) | AF_gnomAD_nFE (Accessed 10-18-2019) | AF_gnomAD (accessed 10-18-2019) | Reference |
|---|---|---|---|---|---|
| M1 | c.5196+235G>A | 94,484,903 | – | – | 30 |
| M2 | c.5196+771G>A | 94,484,367 | – | – | 30 |
| M3 | c.5196+899C>T | 94,484,239 | 0.03126 | 0.02097 | 15 |
| M4 | c.5196+1013A>G | 94,484,125 | – | – | 15 |
| M5 | c.5196+1015A>G | 94,484,123 | 0.05542 | 0.05228 | 15 |
| M6 | c.5196+1056A>G | 94,484,082 | – | – | 30 |
| M7 | c.5196+1078del | 94,484,060 | 0.03418 | 0.05990 | 15 |
| M8 | c.5196+1136C>A | 94,484,002 | 0.0001296 | 0.01073 | 11 |
| M9 | c.5196+1137G>A | 94,484,001 | 0.0001297 | 0.00009558 | 19 |
| M10 | c.5196+1159G>A | 94,483,979 | 0.0003888 | 0.003694 | 11 |
| M11 | c.5196+1216C>A | 94,483,922 | – | – | 19 |
| M12 | c.5196+1614G>A | 94,483,524 | – | – | 30 |
hg19, human genome version 19; AF, allele frequency; nFE, non-Finnish European; –, not detected.