single nucleotide variant | NM_000132.4(F8):c.541G>A (p.Val181Met) | F8 | Pathogenic | X | 154221271 | 154221271 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA255066,UniProtKB:P00451#VAR_001065,OMIM:300841.0094 |
single nucleotide variant | NM_000132.4(F8):c.558C>A (p.Asp186Glu) | F8 | Likely pathogenic | X | 154221254 | 154221254 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.575T>C (p.Ile192Thr) | F8 | Pathogenic | X | 154221237 | 154221237 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.592T>G (p.Cys198Gly) | F8 | Likely pathogenic | X | 154221220 | 154221220 | A | C | criteria provided, single submitter | ClinGen:CA255227,UniProtKB:P00451#VAR_028490,OMIM:300841.0268 |
Deletion | NM_000132.4(F8):c.671-50_787+50del | F8 | Likely pathogenic | X | 154212912 | 154213128 | TGGTGCTGAATTTGGAAGACCCTGAGGATTGTTGAGCAGGTGTGTACATACCTGGCAGAGACCTGTTTACATAACCATTGACTGTGTGCATTTTAGGCCAGGCCCGAGCAGATGCAGCATCCCTATCCTGCATCAAGGAGTTCTTTGTTTCTGAGTGCCAACTTTTCCCTGATGAGAGAGAAGGCAAAGATAGAGTCAGCTAAGCATGTGTCTCATGA | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.733C>T (p.Arg245Trp) | F8 | Pathogenic/Likely pathogenic | X | 154213016 | 154213016 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000132.4(F8):c.797G>A (p.Gly266Glu) | F8 | Likely pathogenic | X | 154197818 | 154197818 | C | T | criteria provided, single submitter | ClinGen:CA255071,UniProtKB:P00451#VAR_001071,OMIM:300841.0102 |
single nucleotide variant | NM_000132.4(F8):c.877C>G (p.His293Asp) | F8 | Likely pathogenic | X | 154197738 | 154197738 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.902G>A (p.Arg301His) | F8 | Pathogenic | X | 154197713 | 154197713 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA255079,UniProtKB:P00451#VAR_001077,OMIM:300841.0109 |
single nucleotide variant | NM_000132.4(F8):c.923C>T (p.Ser308Leu) | F8 | Pathogenic | X | 154197692 | 154197692 | G | A | criteria provided, single submitter | ClinGen:CA255082,UniProtKB:P00451#VAR_001079,OMIM:300841.0112 |