NM_000312.4(PROC):c.982C>T (p.Arg328Cys)Pathogenic
Reduced protein C activity|Thrombophilia due to protein C deficiency, autosomal dominant
★★☆☆2026→ Residue 328
NM_000312.4(PROC):c.814C>T (p.Arg272Cys)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|Thromboembolism|not provided
★★☆☆2026→ Residue 272
NM_000312.4(PROC):c.1201G>A (p.Asp401Asn)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|Reduced protein C activity|Inborn genetic diseases
★★☆☆2026→ Residue 401
NM_000312.4(PROC):c.629C>T (p.Pro210Leu)Pathogenic
Thrombophilia due to protein C deficiency, autosomal recessive|Thrombophilia due to protein C deficiency, autosomal dominant|Hereditary thrombophilia due to congenital protein C deficiency
★★☆☆2026→ Residue 210
NM_000312.4(PROC):c.659G>A (p.Arg220Gln)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|Reduced protein C activity|not provided|Thrombophilia due to protein C deficiency, autosomal recessive;Thrombophilia due to protein C deficiency, autosomal dominant
★★☆☆2026→ Residue 220
NM_000312.4(PROC):c.962C>T (p.Pro321Leu)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|Deep venous thrombosis
★★☆☆2025→ Residue 321
NM_000312.4(PROC):c.935C>T (p.Ser312Leu)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|not provided
★★☆☆2025→ Residue 312
NM_000312.4(PROC):c.632G>A (p.Arg211Gln)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|not provided
★★☆☆2025→ Residue 211
NM_000312.4(PROC):c.169C>T (p.Arg57Trp)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|not provided|Thrombophilia due to protein C deficiency, autosomal recessive;Thrombophilia due to protein C deficiency, autosomal dominant|Hereditary thrombophilia due to congenital protein C deficiency
★★☆☆2025→ Residue 57
NM_000312.4(PROC):c.889G>C (p.Asp297His)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|Thrombophilia due to protein C deficiency, autosomal recessive;Thrombophilia due to protein C deficiency, autosomal dominant
★★☆☆2025→ Residue 297
NM_000312.4(PROC):c.658C>T (p.Arg220Trp)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|PROC-related disorder|Thrombophilia due to protein C deficiency, autosomal recessive;Thrombophilia due to protein C deficiency, autosomal dominant
★★☆☆2025→ Residue 220
NM_000312.4(PROC):c.1216A>G (p.Met406Val)Likely pathogenic
not provided
★★☆☆2025→ Residue 406
NM_000312.4(PROC):c.440G>A (p.Cys147Tyr)Likely pathogenic
Reduced protein C activity|Thrombophilia due to protein C deficiency, autosomal dominant|not provided
★★☆☆2025→ Residue 147
NM_000312.4(PROC):c.326_330dup (p.Cys111fs)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|not provided
★★☆☆2025→ Residue 111
NM_000312.4(PROC):c.94C>T (p.Arg32Cys)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant
★★☆☆2025→ Residue 32
NM_000312.4(PROC):c.520C>T (p.Gln174Ter)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|Thrombophilia due to protein C deficiency, autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive|not provided
★★☆☆2025→ Residue 174
NM_000312.4(PROC):c.41G>A (p.Trp14Ter)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|Reduced protein C activity|not provided
★★☆☆2025→ Residue 14
NM_000312.4(PROC):c.151C>T (p.Arg51Cys)Pathogenic
not provided|Thrombophilia due to protein C deficiency, autosomal dominant
★★☆☆2025→ Residue 51
NM_000312.4(PROC):c.1212dup (p.Pro405fs)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|not provided
★★☆☆2025→ Residue 405
NM_000312.4(PROC):c.445dup (p.His149fs)Pathogenic
Thrombophilia due to protein C deficiency, autosomal dominant|not provided
★★☆☆2025→ Residue 149