single nucleotide variant | NM_000132.4(F8):c.3144G>A (p.Trp1048Ter) | F8 | Likely pathogenic | X | 154158921 | 154158921 | C | T | criteria provided, single submitter | ClinGen:CA16609557 |
single nucleotide variant | NM_000132.4(F8):c.1778T>A (p.Ile593Asn) | F8 | Likely pathogenic | X | 154182292 | 154182292 | A | T | criteria provided, single submitter | ClinGen:CA414911137 |
single nucleotide variant | NM_000133.4(F9):c.280G>A (p.Gly94Arg) | F9 | Likely pathogenic | X | 138623237 | 138623237 | G | A | criteria provided, single submitter | ClinGen:CA414437361 |
single nucleotide variant | NM_000133.4(F9):c.1115T>C (p.Leu372Pro) | F9 | Likely pathogenic | X | 138643959 | 138643959 | T | C | criteria provided, single submitter | ClinGen:CA414445997 |
single nucleotide variant | NM_000132.4(F8):c.7031G>A (p.Gly2344Asp) | F8 | Likely pathogenic | X | 154065897 | 154065897 | C | T | criteria provided, single submitter | ClinGen:CA414896689 |
single nucleotide variant | NM_000133.4(F9):c.161A>T (p.Glu54Val) | F9 | Likely pathogenic | X | 138619241 | 138619241 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000133.4(F9):c.1256T>G (p.Val419Gly) | F9 | Likely pathogenic | X | 138644100 | 138644100 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000133.4(F9):c.1289G>A (p.Ser430Asn) | F9 | Likely pathogenic | X | 138644133 | 138644133 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.6967C>G (p.Arg2323Gly) | F8 | Likely pathogenic | X | 154065961 | 154065961 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.6320G>A (p.Gly2107Asp) | F8 | Likely pathogenic | X | 154124461 | 154124461 | C | T | criteria provided, single submitter | - |