NM_002528.7(NTHL1):c.526-1G>APathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β
β
ββ2026
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β
β
ββ2026β Residue 145
NM_002528.7(NTHL1):c.115+1G>APathogenic
not provided|Familial adenomatous polyposis 3|Hereditary cancer-predisposing syndrome
β
β
ββ2026
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3|NTHL1-related disorder
β
β
ββ2026β Residue 279
NM_002528.7(NTHL1):c.469del (p.Leu157fs)Pathogenic
not provided|Familial adenomatous polyposis 3
β
β
ββ2026β Residue 157
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β
β
ββ2026β Residue 261
NM_002528.7(NTHL1):c.356_359dup (p.Arg121fs)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β
β
ββ2026β Residue 121
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β
β
ββ2026β Residue 131
NM_002528.7(NTHL1):c.160C>T (p.Gln54Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β
β
ββ2026β Residue 54
NM_002528.7(NTHL1):c.353dup (p.Val119fs)Pathogenic
Familial adenomatous polyposis 3|not provided
β
β
ββ2026β Residue 119
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β
β
ββ2026β Residue 202
NM_002528.7(NTHL1):c.350dup (p.Val119fs)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β
β
ββ2025β Residue 119
NM_002528.7(NTHL1):c.116-1G>APathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β
β
ββ2025
NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β
β
ββ2025β Residue 122
NM_002528.7(NTHL1):c.665G>A (p.Trp222Ter)Pathogenic
not provided|Familial adenomatous polyposis 3|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 222
NM_002528.7(NTHL1):c.350del (p.Pro117fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 3
β
β
ββ2025β Residue 117
NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 3
β
β
ββ2025β Residue 122
NM_002528.7(NTHL1):c.211dup (p.Ala71fs)Pathogenic
not provided|Familial adenomatous polyposis 3|Hereditary cancer-predisposing syndrome|NTHL1-deficiency tumor predisposition syndrome
β
β
ββ2025β Residue 71
NM_002528.7(NTHL1):c.167_168del (p.Leu56fs)Pathogenic
not provided|Familial adenomatous polyposis 3
β
β
ββ2025β Residue 56
NM_002528.7(NTHL1):c.685+1G>APathogenic
Familial adenomatous polyposis 3|not provided|Hereditary cancer-predisposing syndrome
β
β
ββ2025