Allele frequencies in 21 independent Spanish HFI families
| Mutation | No of alleles | Frequency (%) | Reported frequency (%) |
|---|---|---|---|
| The number of independently segregating HFI alleles and their frequencies are indicated. One family had three probands with three independent mutant alleles. Reported frequencies are those described by *Cox in a pan-European population sample11 or †Tolan in a compendium of studies world wide.3 | |||
| A149P | 29 | 67.4 | 61.0* |
| Δ4E4 | 7 | 16.3 | 1.8† |
| A174D | 4 | 9.3 | 15.8* |
| N334K | 1 | 2.3 | 7.2* |
| g.1133G>A | 1 | 2.3 | – |
| g.4271C>G | 1 | 2.3 | – |
| Total | 43 | 100 | |