Summary of the mutations found
| N0 | ID | Sex | Mutation | Phenotype | |
|---|---|---|---|---|---|
| Ep = epistaxis; Te = telangiectasia; L = intrahepatic arteriovenous shunts. | |||||
| Exon 3 | |||||
| 1 | LL | M | 145 ins G | Frameshift+Stop: X167 | Ep-Te |
| 2 | PS | M | 145 del G | Frameshift+Stop: X53 | Ep-Te |
| 3 | LPV | M | 152G>A | C51Y | Ep-Te |
| 4 | Dit201 | M | 172G>T | E58X | Ep-Te-L |
| 5 | MC | F | 199C>T | R67W | Te-L |
| 6 | P301 | F | 199C>T | R67W | Te-L |
| 7 | PP | M | 289-294del CACAAC | Del H97N98 in frame | Ep-Te |
| 8 | VG | F | 289-294del CACAAC | Del H97N98 in frame | Ep-Te-L |
| Exon 7 | |||||
| 9 | SA | F | 809-821delCACGCAGCTGTGG | Frameshift+Stop: X297 | Ep-Te |
| 10 | MoA | F | 858C>A | Y286X | Ep-Te |
| 11 | LG | F | 988G>T | D330Y | Ep-Te |
| 12 | SL | M | 1006G>T | C344F | Ep-Te |
| Exon 8 | |||||
| 13 | IAC302 | M | 1054G>C | A352P | Ep-Te |
| 14 | VC | F | 1080-99dupl GCACTCACAGGGCAGCGAT | Frameshift+Stop: X396 | Ep-Te-L |
| 15 | FP | M | 1133C>T | P378L | Ep-Te-L |
| 16 | M203 | M | 1199C>A | A400D | Ep-Te |