single nucleotide variant | NM_000313.4(PROS1):c.1998T>A (p.Cys666Ter) | PROS1 | Likely pathogenic | 3 | 93593122 | 93593122 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000313.4(PROS1):c.1996T>C (p.Cys666Arg) | PROS1 | Pathogenic | 3 | 93593124 | 93593124 | A | G | criteria provided, single submitter | - |
Duplication | NM_000313.4(PROS1):c.1991dup (p.His664fs) | PROS1 | Pathogenic | 3 | 93593128 | 93593129 | G | GT | criteria provided, single submitter | ClinGen:CA658657323 |
single nucleotide variant | NM_000313.4(PROS1):c.1916G>A (p.Cys639Tyr) | PROS1 | Pathogenic | 3 | 93593204 | 93593204 | C | T | criteria provided, single submitter | - |
Deletion | NM_000313.4(PROS1):c.1908del (p.Phe635_Tyr636insTer) | PROS1 | Pathogenic | 3 | 93593212 | 93593212 | TA | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000313.4(PROS1):c.1681C>T (p.Arg561Trp) | PROS1 | Pathogenic | 3 | 93595999 | 93595999 | G | A | criteria provided, single submitter | ClinGen:CA350250 |
single nucleotide variant | NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter) | PROS1 | Pathogenic/Likely pathogenic | 3 | 93596000 | 93596000 | A | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000313.4(PROS1):c.1543C>T (p.Arg515Cys) | PROS1 | Likely pathogenic | 3 | 93598108 | 93598108 | G | A | criteria provided, single submitter | - |
Deletion | NM_000313.4(PROS1):c.1514del (p.Gly505fs) | PROS1 | Likely pathogenic | 3 | 93598137 | 93598137 | AC | A | criteria provided, single submitter | - |
Deletion | NC_000003.12:g.(?_93879163)_(93879314_?)del | PROS1 | Pathogenic | 3 | 93598007 | 93598158 | na | na | criteria provided, single submitter | - |