single nucleotide variant | NM_000313.3(PROS1):c.-168C>T | PROS1 | Likely pathogenic | 3 | 93692761 | 93692761 | G | A | criteria provided, single submitter | - |
Duplication | NM_000313.4(PROS1):c.49dup (p.Leu17fs) | PROS1 | Likely pathogenic | 3 | 93692544 | 93692545 | A | AG | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000313.4(PROS1):c.77-1G>C | PROS1 | Pathogenic | 3 | 93646252 | 93646252 | C | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000313.4(PROS1):c.252del (p.Lys84fs) | PROS1 | Pathogenic | 3 | 93643091 | 93643091 | AT | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000313.4(PROS1):c.353C>T (p.Pro118Leu) | PROS1 | Likely pathogenic | 3 | 93624981 | 93624981 | G | A | criteria provided, single submitter | - |
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 |
single nucleotide variant | NM_000313.4(PROS1):c.728-1G>A | PROS1 | Likely pathogenic | 3 | 93617414 | 93617414 | C | T | criteria provided, single submitter | ClinGen:CA233399 |
Deletion | NM_000313.4(PROS1):c.785del (p.Gly262fs) | PROS1 | Pathogenic | 3 | 93617356 | 93617356 | AC | A | criteria provided, single submitter | - |
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 |