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 |
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.253-1G>C | F9 | Pathogenic | X | 138619520 | 138619520 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000133.4(F9):c.224G>A (p.Arg75Gln) | F9 | Pathogenic/Likely pathogenic | X | 138619304 | 138619304 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA255318,UniProtKB:P00740#VAR_017308,OMIM:300746.0016 |
single nucleotide variant | NM_000133.4(F9):c.223C>T (p.Arg75Ter) | F9 | Pathogenic | X | 138619303 | 138619303 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA340993,OMIM:300746.0015 |
single nucleotide variant | NM_000133.4(F9):c.161A>T (p.Glu54Val) | F9 | Likely pathogenic | X | 138619241 | 138619241 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000133.4(F9):c.148G>A (p.Gly50Ser) | F9 | Pathogenic | X | 138619228 | 138619228 | G | A | criteria provided, single submitter | ClinGen:CA414435668 |
single nucleotide variant | NM_000133.4(F9):c.88+5G>T | F9 | Likely pathogenic | X | 138613016 | 138613016 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000133.4(F9):c.88+1G>A | F9 | Likely pathogenic | X | 138613012 | 138613012 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000133.4(F9):c.88G>A (p.Val30Ile) | F9 | Pathogenic | X | 138613011 | 138613011 | G | A | criteria provided, single submitter | - |