single nucleotide variant | NM_000128.4(F11):c.1782C>A (p.Ser594Arg) | F11 | Pathogenic | 4 | 187209672 | 187209672 | C | A | criteria provided, single submitter | ClinGen:CA121761,UniProtKB:P03951#VAR_012096,OMIM:264900.0011 |
single nucleotide variant | NM_000128.4(F11):c.976C>T (p.Arg326Cys) | F11 | Likely pathogenic | 4 | 187201487 | 187201487 | C | T | criteria provided, single submitter | ClinGen:CA121757,UniProtKB:P03951#VAR_012090,OMIM:264900.0009 |
single nucleotide variant | NM_000128.4(F11):c.438C>A (p.Cys146Ter) | F11 | Pathogenic/Likely pathogenic | 4 | 187195382 | 187195382 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA121752,OMIM:264900.0007 |
single nucleotide variant | NM_000128.4(F11):c.901T>C (p.Phe301Leu) | F11 | Pathogenic | 4 | 187201412 | 187201412 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA121748,UniProtKB:P03951#VAR_006622,OMIM:264900.0003 |
single nucleotide variant | NM_000128.4(F11):c.403G>T (p.Glu135Ter) | F11 | Pathogenic | 4 | 187195347 | 187195347 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA121745,OMIM:264900.0002 |
single nucleotide variant | NM_000128.4(F11):c.1716+1G>A | F11 | Pathogenic | 4 | 187208978 | 187208978 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA212929,OMIM:264900.0001 |