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.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.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.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.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.751C>T (p.Gln251Ter) | F11 | Likely pathogenic | 4 | 187197540 | 187197540 | C | T | criteria provided, single submitter | ClinGen:CA199098 |
Deletion | NM_000128.4(F11):c.25_28del (p.His9fs) | F11 | Likely pathogenic | 4 | 187188315 | 187188318 | ACATT | A | criteria provided, single submitter | ClinGen:CA16040939 |
single nucleotide variant | NM_000128.4(F11):c.218+1G>A | F11 | Likely pathogenic | 4 | 187192926 | 187192926 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040940 |
Deletion | NM_000128.4(F11):c.291del (p.Tyr98fs) | F11 | Likely pathogenic | 4 | 187194295 | 187194295 | TG | T | criteria provided, single submitter | ClinGen:CA16040941 |
single nucleotide variant | NM_000128.4(F11):c.486-2A>G | F11 | Likely pathogenic | 4 | 187196939 | 187196939 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040943 |