NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)Pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2025β Residue 547
NM_001040716.2(PC):c.1826-1G>CLikely pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2025
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)Pathogenic
Pyruvate carboxylase deficiency|not provided
β
β
ββ2024β Residue 631
NM_001040716.2(PC):c.1712_1728del (p.Arg571fs)Pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2024β Residue 571
NM_001040716.2(PC):c.1368+1G>ALikely pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2024
NM_001040716.2(PC):c.3387del (p.Lys1130fs)Pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2024β Residue 1130
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)Likely pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2024β Residue 451
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp)Likely pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2024β Residue 812
NM_001040716.2(PC):c.280C>T (p.Gln94Ter)Likely pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2024β Residue 94
NM_001040716.2(PC):c.2971G>T (p.Glu991Ter)Likely pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2024β Residue 991
NM_001040716.2(PC):c.2473+2_2473+5delPathogenic
Pyruvate carboxylase deficiency
β
β
ββ2024
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)Pathogenic
Pyruvate carboxylase deficiency|Pyruvate carboxylase deficiency;Thrombophilia due to protein C deficiency, autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive
β
β
ββ2024β Residue 555
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)Pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2024β Residue 610
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer)Pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2024β Residue 831
NM_001040716.2(PC):c.633+2T>CLikely pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2024
NM_001040716.2(PC):c.1983-116C>TLikely pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2024
NM_001040716.2(PC):c.1980del (p.Phe660fs)Pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2024β Residue 660
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs)Pathogenic
Pyruvate carboxylase deficiency|not provided
β
β
ββ2023β Residue 1137
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)Pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2023β Residue 18
NM_001040716.2(PC):c.908del (p.Gly303fs)Pathogenic
Pyruvate carboxylase deficiency
β
β
ββ2023β Residue 303