NM_019616.4(F7):c.995C>T (p.Ala332Val)Pathogenic
Factor VII deficiency|Abnormal bleeding|not provided|Congenital factor VII deficiency;Myocardial infarction, susceptibility to|Congenital factor VII deficiency|F7-related disorder
β
β
ββ2026β Residue 332
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)Pathogenic
not provided|Factor VII deficiency|Factor VII Padua|Congenital factor VII deficiency|Congenital factor VII deficiency;Myocardial infarction, susceptibility to|F7-related disorder
β
β
ββ2025β Residue 342
NM_019616.4(F7):c.568C>T (p.Arg190Ter)Pathogenic
Congenital factor VII deficiency|F7-related disorder|not provided
β
β
ββ2025β Residue 190
NM_019616.4(F7):c.1318C>T (p.Arg440Ter)Pathogenic
Congenital factor VII deficiency|not provided
β
β
ββ2025β Residue 440
NM_019616.4(F7):c.2T>C (p.Met1Thr)Pathogenic
not provided
β
β
ββ2025β Residue 1
NM_019616.4(F7):c.1325del (p.Pro442fs)Pathogenic
Factor VII deficiency|Congenital factor VII deficiency|F7-related disorder|Abnormal bleeding|not provided|Myocardial infarction, susceptibility to;Congenital factor VII deficiency
β
β
ββ2025β Residue 442
NM_019616.4(F7):c.845C>T (p.Ala282Val)Pathogenic
Factor VII deficiency|Congenital factor VII deficiency|Myocardial infarction, susceptibility to;Congenital factor VII deficiency|F7-related disorder|not provided
β
β
ββ2025β Residue 282
NM_019616.4(F7):c.364+1G>APathogenic
Factor VII deficiency|not provided|Congenital factor VII deficiency|Myocardial infarction, susceptibility to;Congenital factor VII deficiency
β
β
ββ2025
NM_019616.4(F7):c.739+1G>APathogenic
not provided|Myocardial infarction, susceptibility to;Congenital factor VII deficiency
β
β
ββ2025
NM_019616.4(F7):c.868G>A (p.Val290Met)Pathogenic
Congenital factor VII deficiency|not provided|Congenital factor VII deficiency;Myocardial infarction, susceptibility to
β
β
ββ2025β Residue 290
NM_019616.4(F7):c.1219G>A (p.Ala407Thr)Likely pathogenic
Factor VII deficiency|F7-related disorder|Congenital factor VII deficiency;Myocardial infarction, susceptibility to|Congenital factor VII deficiency|not provided
β
β
ββ2025β Residue 407
NM_019616.4(F7):c.413A>G (p.Gln138Arg)Pathogenic
Myocardial infarction, susceptibility to;Congenital factor VII deficiency|F7-related disorder|Factor VII deficiency|Congenital factor VII deficiency|not provided
β
β
ββ2025β Residue 138
NM_019616.4(F7):c.1043G>A (p.Cys348Tyr)Likely pathogenic
Myocardial infarction, susceptibility to;Congenital factor VII deficiency|not provided
β
β
ββ2025β Residue 348
NM_019616.4(F7):c.517T>C (p.Cys173Arg)Pathogenic
Congenital factor VII deficiency|not provided|See cases|Congenital factor VII deficiency;Myocardial infarction, susceptibility to
β
β
ββ2025β Residue 173
NM_019616.4(F7):c.64G>A (p.Val22Ile)Pathogenic
Congenital factor VII deficiency;Myocardial infarction, susceptibility to|Congenital factor VII deficiency|not provided
β
β
ββ2025β Residue 22
NM_000131.4(F7):c.-55C>TPathogenic
Factor VII deficiency|Congenital factor VII deficiency|not provided
β
β
ββ2025
NM_019616.4(F7):c.854G>A (p.Arg285His)Pathogenic
not provided|Factor VII deficiency|Congenital factor VII deficiency|F7-related disorder
β
β
ββ2025β Residue 285
NM_019616.4(F7):c.400G>A (p.Gly134Ser)Likely pathogenic
not provided|Congenital factor VII deficiency
β
β
ββ2024β Residue 134
NM_019616.4(F7):c.580G>C (p.Gly194Arg)Likely pathogenic
Congenital factor VII deficiency
β
β
ββ2024β Residue 194
NM_019616.4(F7):c.724del (p.Asn241_Leu242insTer)Pathogenic
not provided
β
β
ββ2024β Residue 241