NM_000128.4(F11):c.901T>C (p.Phe301Leu)Pathogenic
Hereditary factor XI deficiency disease|not provided|Factor XI|Plasma factor XI deficiency|F11-related disorder
β
β
ββ2026β Residue 301
NM_000128.4(F11):c.403G>T (p.Glu135Ter)Pathogenic
Hereditary factor XI deficiency disease|not provided|Abnormal bleeding;Thrombocytopenia|Inborn genetic diseases|Plasma factor XI deficiency|F11-related disorder
β
β
ββ2026β Residue 135
NM_000128.4(F11):c.841C>T (p.Gln281Ter)Pathogenic
not provided|Hereditary factor XI deficiency disease|Plasma factor XI deficiency
β
β
ββ2026β Residue 281
NM_000128.4(F11):c.1026G>T (p.Gly342=)Pathogenic
not provided|Hereditary factor XI deficiency disease|Plasma factor XI deficiency
β
β
ββ2026β Residue 342
NM_000128.4(F11):c.219G>A (p.Trp73Ter)Pathogenic
Hereditary factor XI deficiency disease|not provided|Plasma factor XI deficiency
β
β
ββ2026β Residue 73
NM_000128.4(F11):c.325G>A (p.Ala109Thr)Pathogenic
Hereditary factor XI deficiency disease|not provided|Plasma factor XI deficiency|Nonpapillary renal cell carcinoma
β
β
ββ2026β Residue 109
NM_000128.4(F11):c.1718G>A (p.Gly573Glu)Likely pathogenic
Hereditary factor XI deficiency disease|Plasma factor XI deficiency
β
β
ββ2026β Residue 573
NM_000128.4(F11):c.1325del (p.Leu442fs)Pathogenic
Hereditary factor XI deficiency disease|not provided|Plasma factor XI deficiency
β
β
ββ2026β Residue 442
NM_000128.4(F11):c.981C>A (p.Cys327Ter)Pathogenic
not provided|Plasma factor XI deficiency
β
β
ββ2025β Residue 327
NM_000128.4(F11):c.449C>T (p.Thr150Met)Likely pathogenic
Hereditary factor XI deficiency disease|Plasma factor XI deficiency
β
β
ββ2025β Residue 150
NM_000128.4(F11):c.1557G>C (p.Trp519Cys)Pathogenic
not provided|Plasma factor XI deficiency
β
β
ββ2025β Residue 519
NM_000128.4(F11):c.965C>T (p.Thr322Ile)Likely pathogenic
not provided|Hereditary factor XI deficiency disease|Plasma factor XI deficiency
β
β
ββ2025β Residue 322
NM_000128.4(F11):c.438C>A (p.Cys146Ter)Pathogenic
Hereditary factor XI deficiency disease|not provided|Plasma factor XI deficiency
β
β
ββ2025β Residue 146
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)Pathogenic
Hereditary factor XI deficiency disease|not provided|Plasma factor XI deficiency
β
β
ββ2025β Residue 478
NM_000128.4(F11):c.664G>T (p.Asp222Tyr)Likely pathogenic
not provided|Hereditary factor XI deficiency disease|Plasma factor XI deficiency
β
β
ββ2025β Residue 222
NM_000128.4(F11):c.595+3A>GPathogenic
not provided|Plasma factor XI deficiency
β
β
ββ2025
NM_000128.4(F11):c.1021G>A (p.Glu341Lys)Pathogenic
not provided|Plasma factor XI deficiency
β
β
ββ2025β Residue 341
NM_000128.4(F11):c.616C>T (p.Pro206Ser)Likely pathogenic
Hereditary factor XI deficiency disease|Plasma factor XI deficiency
β
β
ββ2025β Residue 206
NM_000128.4(F11):c.908del (p.Gly303fs)Pathogenic
Hereditary factor XI deficiency disease|not provided|Plasma factor XI deficiency
β
β
ββ2025β Residue 303
NM_000128.4(F11):c.961_962del (p.Cys321fs)Pathogenic
Hereditary factor XI deficiency disease|not provided|Plasma factor XI deficiency
β
β
ββ2025β Residue 321