single nucleotide variant | NM_000128.4(F11):c.682C>T (p.Arg228Ter) | F11 | Pathogenic/Likely pathogenic | 4 | 187197471 | 187197471 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA199060 |
single nucleotide variant | NM_000128.4(F11):c.408C>A (p.Cys136Ter) | F11 | Pathogenic/Likely pathogenic | 4 | 187195352 | 187195352 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA199095 |
single nucleotide variant | NM_000128.4(F11):c.67C>T (p.Gln23Ter) | F11 | Pathogenic/Likely pathogenic | 4 | 187192774 | 187192774 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA199124 |
single nucleotide variant | NM_000128.4(F11):c.943G>A (p.Glu315Lys) | F11 | Pathogenic/Likely pathogenic | 4 | 187201454 | 187201454 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA219162,UniProtKB:P03951#VAR_067942,UniProtKB/Swiss-Prot:VAR_067942 |
single nucleotide variant | NM_000128.4(F11):c.664G>T (p.Asp222Tyr) | F11 | Likely pathogenic | 4 | 187197453 | 187197453 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA219144,UniProtKB:P03951#VAR_067936,UniProtKB/Swiss-Prot:VAR_067936 |
single nucleotide variant | NM_000128.4(F11):c.1822T>C (p.Tyr608His) | F11 | Pathogenic | 4 | 187209712 | 187209712 | T | C | criteria provided, single submitter | ClinGen:CA219132,UniProtKB:P03951#VAR_067955,UniProtKB/Swiss-Prot:VAR_067955 |
single nucleotide variant | NM_000128.4(F11):c.1724C>T (p.Ser575Leu) | F11 | Likely pathogenic | 4 | 187209614 | 187209614 | C | T | criteria provided, single submitter | ClinGen:CA219128,UniProtKB:P03951#VAR_067953,UniProtKB/Swiss-Prot:VAR_067953 |
single nucleotide variant | NM_000128.4(F11):c.1207G>A (p.Val403Met) | F11 | Likely pathogenic | 4 | 187205317 | 187205317 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA219102,UniProtKB:P03951#VAR_067946,UniProtKB/Swiss-Prot:VAR_067946 |
single nucleotide variant | NM_000128.4(F11):c.1253G>T (p.Gly418Val) | F11 | Likely pathogenic | 4 | 187205363 | 187205363 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA121767,UniProtKB:P03951#VAR_054901,OMIM:264900.0014 |
single nucleotide variant | NM_000128.4(F11):c.166T>C (p.Cys56Arg) | F11 | Pathogenic/Likely pathogenic | 4 | 187192873 | 187192873 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA121763,UniProtKB:P03951#VAR_054895,OMIM:264900.0012 |