FECH alleles in autosomal recessive EPP
| Patient | Allele 1 | Allele 2 |
|---|---|---|
| *Heterozygous for IVS3-48C/T SNP, phase not determined. | ||
| A | 215T>C [L72X]; IVS3-48T | 778T>C [F260L]; IVS3-48T |
| B | 416A>T [Q139L]; IVS3-48T | 416A>T [Q139L]; IVS3-48T |
| C | 707G>A [C236Y]; IVS3-48T | 1137G>C [K379N]; IVS3-48T |
| E | 163G>T [G55C]; IVS3-48C or T* | 1001C>T [P334L]; IVS3-48C or T* |