single nucleotide variant | NM_000128.4(F11):c.1489C>T (p.Arg497Ter) | F11 | Pathogenic/Likely pathogenic | 4 | 187207577 | 187207577 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA3164011 |
single nucleotide variant | NM_000128.4(F11):c.1613C>T (p.Pro538Leu) | F11 | Pathogenic/Likely pathogenic | 4 | 187208874 | 187208874 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA199131,UniProtKB:P03951#VAR_054903 |
single nucleotide variant | NM_000128.4(F11):c.1556G>A (p.Trp519Ter) | F11 | Pathogenic/Likely pathogenic | 4 | 187207644 | 187207644 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA199086 |
single nucleotide variant | NM_000128.4(F11):c.1313C>A (p.Ser438Ter) | F11 | Pathogenic/Likely pathogenic | 4 | 187206800 | 187206800 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA199128 |
single nucleotide variant | NM_000128.4(F11):c.1186C>T (p.Arg396Cys) | F11 | Pathogenic/Likely pathogenic | 4 | 187205296 | 187205296 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA199052 |
single nucleotide variant | NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) | F11 | Pathogenic/Likely pathogenic | 4 | 187201706 | 187201706 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA199121 |
Deletion | NM_000128.4(F11):c.1075del (p.Ile359fs) | F11 | Pathogenic/Likely pathogenic | 4 | 187201671 | 187201671 | TA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA199045 |
Deletion | NM_000128.4(F11):c.908del (p.Gly303fs) | F11 | Pathogenic/Likely pathogenic | 4 | 187201417 | 187201417 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA199127 |
single nucleotide variant | NM_000128.4(F11):c.751C>T (p.Gln251Ter) | F11 | Likely pathogenic | 4 | 187197540 | 187197540 | C | T | criteria provided, single submitter | ClinGen:CA199098 |
single nucleotide variant | NM_000128.4(F11):c.730C>T (p.Gln244Ter) | F11 | Pathogenic/Likely pathogenic | 4 | 187197519 | 187197519 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA199116 |