VWF variants identified in patients with type 1 VWD from which ECFCs were isolated
| Patient . | Nucleotide change . | Amino acid change . | Predicted pathogenicity . |
|---|---|---|---|
| 1P | No pathogenic variant identified | ||
| 2P | c.1886A>G | p.Try629Cys | Likely pathogenic |
| 3P | c.1897T>C | p.Cys633Arg | Pathogenic |
| 4P | c.2716C>T | p.Arg906Trp | Pathogenic |
| c.7250A>G | p.Asp2417Gly | Likely pathogenic | |
| 5P | c.2879G>C | p.Arg960Pro | Likely pathogenic |
| 6P | No pathogenic variant identified | ||
| 7P | c.6599-20A>T | splice site variant | Pathogenic |
| 8P | c.6599-20A>T | splice site variant | Pathogenic |
| Patient . | Nucleotide change . | Amino acid change . | Predicted pathogenicity . |
|---|---|---|---|
| 1P | No pathogenic variant identified | ||
| 2P | c.1886A>G | p.Try629Cys | Likely pathogenic |
| 3P | c.1897T>C | p.Cys633Arg | Pathogenic |
| 4P | c.2716C>T | p.Arg906Trp | Pathogenic |
| c.7250A>G | p.Asp2417Gly | Likely pathogenic | |
| 5P | c.2879G>C | p.Arg960Pro | Likely pathogenic |
| 6P | No pathogenic variant identified | ||
| 7P | c.6599-20A>T | splice site variant | Pathogenic |
| 8P | c.6599-20A>T | splice site variant | Pathogenic |