Table 7.
Disease-causing mutations in IGFALS
| Mutation | Population variant | ExAC prevalencea |
|---|---|---|
| E73Gfs-stop | E73Gfs-stop | 1 allele |
| C98S | C98W | 1 allele |
| P111L | P111L, P111G112del | 3, 1 alleles |
| L165P | None | – |
| L172Q | None | – |
| L210F | L210F | 1 allele |
| A221Sfs-stop | A221E, A221V | 2, 2 alleles |
| S233-R235dup | S233-R235dup | 1 allele |
| L279P | None | – |
| L282F | None | – |
| N314S | N314S | 3 alleles |
| W469Gfs-stop | W469Gfs-stop | 2 alleles |
| Q358stop | Q358stop | 1 allele |
| L474–476dup | None | – |
| D478N | D478N | 4 alleles |
| L535fs-stop | None | – |
| C578R | None | – |
a The dash represents no alleles identified with that variant.