single nucleotide variant | NM_000133.4(F9):c.253-1G>C | F9 | Pathogenic | X | 138619520 | 138619520 | G | C | criteria provided, single submitter | - |
Deletion | NM_000133.4(F9):c.276del (p.Asp93fs) | F9 | Pathogenic | X | 138619543 | 138619543 | GT | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000133.4(F9):c.278-3A>G | F9 | Pathogenic | X | 138623232 | 138623232 | A | G | criteria provided, single submitter | ClinGen:CA285284,OMIM:300746.0113 |
single nucleotide variant | NM_000133.4(F9):c.280G>A (p.Gly94Arg) | F9 | Likely pathogenic | X | 138623237 | 138623237 | G | A | criteria provided, single submitter | ClinGen:CA414437361 |
single nucleotide variant | NM_000133.4(F9):c.301C>G (p.Pro101Ala) | F9 | Pathogenic | X | 138623258 | 138623258 | C | G | criteria provided, single submitter | ClinGen:CA255326,OMIM:300746.0021 |
single nucleotide variant | NM_000133.4(F9):c.316G>A (p.Gly106Ser) | F9 | Pathogenic | X | 138623273 | 138623273 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA255329,UniProtKB:P00740#VAR_006549,OMIM:300746.0022 |
single nucleotide variant | NM_000133.4(F9):c.407T>C (p.Ile136Thr) | F9 | Pathogenic | X | 138630537 | 138630537 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000133.4(F9):c.484C>T (p.Arg162Ter) | F9 | Pathogenic | X | 138630614 | 138630614 | C | T | criteria provided, single submitter | ClinGen:CA255430,OMIM:300746.0084 |
single nucleotide variant | NM_000133.4(F9):c.571C>T (p.Arg191Cys) | F9 | Pathogenic/Likely pathogenic | X | 138633271 | 138633271 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA255340,UniProtKB:P00740#VAR_006569,OMIM:300746.0026 |
single nucleotide variant | NM_000133.4(F9):c.572G>A (p.Arg191His) | F9 | Pathogenic | X | 138633272 | 138633272 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA255342,UniProtKB:P00740#VAR_006568,OMIM:300746.0027 |