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 |
Duplication | NM_000313.4(PROS1):c.1991dup (p.His664fs) | PROS1 | Pathogenic | 3 | 93593128 | 93593129 | G | GT | criteria provided, single submitter | ClinGen:CA658657323 |
Deletion | NC_000003.12:g.(?_93874239)_(94053268_?)del | PROS1 | Pathogenic | 3 | 93593083 | 93772112 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000313.4(PROS1):c.1156-1G>A | PROS1 | Pathogenic | 3 | 93605348 | 93605348 | C | T | criteria provided, single submitter | ClinGen:CA353670484 |
Deletion | NC_000003.12:g.(?_93879163)_(93879314_?)del | PROS1 | Pathogenic | 3 | 93598007 | 93598158 | na | na | 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 |
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.586A>G (p.Lys196Glu) | PROS1 | Pathogenic | 3 | 93624643 | 93624643 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA123032,UniProtKB:P07225#VAR_005566,OMIM:176880.0003 |
Deletion | Single allele | PROS1 | Likely pathogenic | 3 | 93591831 | 93692960 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000313.3(PROS1):c.-168C>T | PROS1 | Likely pathogenic | 3 | 93692761 | 93692761 | G | A | criteria provided, single submitter | - |