NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)Pathogenic
Cerebral cavernous malformation 1|Cerebral cavernous malformation|not provided|KRIT1-related disorder|Inborn genetic diseases
β
β
ββ2026β Residue 455
NM_194454.3(KRIT1):c.1255-1G>APathogenic
not provided|Cerebral cavernous malformation
β
β
ββ2026
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter)Pathogenic
not provided|Cerebral cavernous malformation
β
β
ββ2026β Residue 90
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)Pathogenic
not provided|Cerebral cavernous malformation|KRIT1-related disorder
β
β
ββ2026β Residue 423
NM_194454.3(KRIT1):c.1360_1363del (p.Ser454fs)Pathogenic
not provided|Cerebral cavernous malformation
β
β
ββ2026β Residue 454
NM_194454.3(KRIT1):c.1A>G (p.Met1Val)Pathogenic
Cerebral cavernous malformation|not provided
β
β
ββ2026β Residue 1
NM_194454.3(KRIT1):c.1730+4_1730+7delPathogenic
not provided|Cerebral cavernous malformation
β
β
ββ2026
NM_194454.3(KRIT1):c.1146+1G>APathogenic
not provided|Cerebral cavernous malformation
β
β
ββ2026
NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter)Pathogenic
not specified|Cerebral cavernous malformation|not provided
β
β
ββ2026β Residue 630
NM_194454.3(KRIT1):c.1336C>T (p.Gln446Ter)Pathogenic
Cerebral cavernous malformation|not provided
β
β
ββ2025β Residue 446
NM_194454.3(KRIT1):c.1730+5G>APathogenic
not provided|Cerebral cavernous malformation
β
β
ββ2025
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)Pathogenic
not provided|Cerebral cavernous malformation|Hereditary cavernous hemangioma of brain
β
β
ββ2025β Residue 401
NM_194454.3(KRIT1):c.646_647del (p.Lys216fs)Pathogenic
Cerebral cavernous malformation|not provided
β
β
ββ2025β Residue 216
NM_194454.3(KRIT1):c.707C>G (p.Ser236Ter)Pathogenic
not provided|Cerebral cavernous malformation
β
β
ββ2025β Residue 236
NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter)Pathogenic
not provided|Cerebral cavernous malformation
β
β
ββ2025β Residue 294
NM_194454.3(KRIT1):c.152_155del (p.Lys51fs)Pathogenic
not provided|Cerebral cavernous malformation|Hereditary cavernous hemangioma of brain|KRIT1-related disorder|Inborn genetic diseases
β
β
ββ2025β Residue 51
NM_194454.3(KRIT1):c.1905T>A (p.Tyr635Ter)Pathogenic
not provided|Cerebral cavernous malformation
β
β
ββ2025β Residue 635
NM_194454.3(KRIT1):c.1333C>T (p.Gln445Ter)Pathogenic
Cerebral cavernous malformation|not provided
β
β
ββ2025β Residue 445
NM_194454.3(KRIT1):c.2025+1G>APathogenic
Cerebral cavernous malformation
β
β
ββ2025
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter)Pathogenic
not provided|Cerebral cavernous malformation
β
β
ββ2025β Residue 140