single nucleotide variant | NM_000132.4(F8):c.493C>T (p.Pro165Ser) | F8 | Likely pathogenic | X | 154221319 | 154221319 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA255065,UniProtKB:P00451#VAR_001064,OMIM:300841.0093 |
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.986G>A (p.Cys329Tyr) | F8 | Likely pathogenic | X | 154197629 | 154197629 | C | T | criteria provided, single submitter | ClinGen:CA255089,OMIM:300841.0118 |
single nucleotide variant | NM_000132.4(F8):c.1175C>T (p.Ser392Leu) | F8 | Likely pathogenic | X | 154194797 | 154194797 | G | A | criteria provided, single submitter | ClinGen:CA255095,UniProtKB:P00451#VAR_001092,OMIM:300841.0122 |
single nucleotide variant | NM_000132.4(F8):c.1648C>G (p.Arg550Gly) | F8 | Likely pathogenic | X | 154185336 | 154185336 | G | C | criteria provided, single submitter | ClinGen:CA255114,UniProtKB:P00451#VAR_001109,OMIM:300841.0141 |
single nucleotide variant | NM_000132.4(F8):c.5143C>G (p.Arg1715Gly) | F8 | Likely pathogenic | X | 154156922 | 154156922 | G | C | criteria provided, single submitter | ClinGen:CA255157,UniProtKB:P00451#VAR_001142,OMIM:300841.0185 |
single nucleotide variant | NM_000132.4(F8):c.5422C>T (p.Leu1808Phe) | F8 | Likely pathogenic | X | 154133250 | 154133250 | G | A | criteria provided, single submitter | ClinGen:CA255166,UniProtKB:P00451#VAR_001154,OMIM:300841.0195 |
single nucleotide variant | NM_000132.4(F8):c.5530C>T (p.Pro1844Ser) | F8 | Likely pathogenic | X | 154133142 | 154133142 | G | A | criteria provided, single submitter | ClinGen:CA255170,UniProtKB:P00451#VAR_001156,OMIM:300841.0198 |
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 |
single nucleotide variant | NM_000133.4(F9):c.1144T>A (p.Cys382Ser) | F9 | Likely pathogenic | X | 138643988 | 138643988 | T | A | criteria provided, single submitter | - |