Duplication | NM_000132.4(F8):c.4313dup (p.Ser1439fs) | F8 | Likely pathogenic | X | 154157751 | 154157752 | T | TG | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.5217C>T (p.Asn1739=) | F8 | Likely pathogenic | X | 154156848 | 154156848 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.5303G>A (p.Arg1768His) | F8 | Likely pathogenic | X | 154134765 | 154134765 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.5896A>C (p.Met1966Leu) | F8 | Likely pathogenic | X | 154132283 | 154132283 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.5918A>T (p.His1973Leu) | F8 | Pathogenic | X | 154132261 | 154132261 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.6082G>A (p.Gly2028Arg) | F8 | Pathogenic | X | 154130359 | 154130359 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.6104T>C (p.Val2035Ala) | F8 | Pathogenic | X | 154130337 | 154130337 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000132.4(F8):c.6434T>G (p.Phe2145Cys) | F8 | Pathogenic | X | 154091498 | 154091498 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.6437T>C (p.Phe2146Ser) | F8 | Likely pathogenic | X | 154091495 | 154091495 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.6547A>G (p.Met2183Val) | F8 | Pathogenic/Likely pathogenic | X | 154091385 | 154091385 | T | C | criteria provided, multiple submitters, no conflicts | - |