single nucleotide variant | NM_000313.4(PROS1):c.913C>T (p.Gln305Ter) | PROS1 | Likely pathogenic | 3 | 93615472 | 93615472 | G | A | criteria provided, single submitter | - |
Indel | NM_000313.4(PROS1):c.967delinsGG (p.Phe323fs) | PROS1 | Pathogenic | 3 | 93611965 | 93611965 | A | CC | criteria provided, single submitter | ClinGen:CA337130 |
single nucleotide variant | NM_000313.4(PROS1):c.970T>C (p.Ser324Pro) | PROS1 | Likely pathogenic | 3 | 93611962 | 93611962 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys) | PROS1 | Pathogenic/Likely pathogenic | 3 | 93611869 | 93611869 | G | A | criteria provided, multiple submitters, no conflicts | OMIM:176880.0009,ClinGen:CA128688 |
single nucleotide variant | NM_000313.4(PROS1):c.1126G>A (p.Asp376Asn) | PROS1 | Likely pathogenic | 3 | 93611806 | 93611806 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000313.4(PROS1):c.1155+5G>A | PROS1 | Pathogenic/Likely pathogenic | 3 | 93611772 | 93611772 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000313.4(PROS1):c.1156-1G>A | PROS1 | Pathogenic | 3 | 93605348 | 93605348 | C | T | criteria provided, single submitter | ClinGen:CA353670484 |
single nucleotide variant | NM_000313.4(PROS1):c.1204G>T (p.Glu402Ter) | PROS1 | Pathogenic | 3 | 93605299 | 93605299 | C | A | criteria provided, single submitter | ClinGen:CA353670171 |
Deletion | NM_000313.4(PROS1):c.1284del (p.Gly429fs) | PROS1 | Likely pathogenic | 3 | 93605219 | 93605219 | CT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) | PROS1 | Pathogenic/Likely pathogenic | 3 | 93603713 | 93603713 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA78477958 |