NM_001159773.2(CANT1):c.277_278del (p.Leu93fs)Pathogenic
Desbuquois dysplasia 1|Inborn genetic diseases|not provided
β
β
ββ2026β Residue 93
NM_001159773.2(CANT1):c.676G>A (p.Val226Met)Pathogenic
Desbuquois dysplasia 1|Epiphyseal dysplasia, multiple, 7|not provided|Epiphyseal dysplasia, multiple, 7;Desbuquois dysplasia 1
β
β
ββ2025β Residue 226
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu)Likely pathogenic
Desbuquois dysplasia 1|CANT1-related disorder|not provided
β
β
ββ2025β Residue 299
NM_001159773.2(CANT1):c.836-9G>APathogenic
not provided|Desbuquois dysplasia 1|Epiphyseal dysplasia, multiple, 7;Desbuquois dysplasia 1
β
β
ββ2025
NM_001159773.2(CANT1):c.643G>A (p.Glu215Lys)Pathogenic
not provided|Desbuquois dysplasia 1
β
β
ββ2025β Residue 215
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu)Pathogenic
not provided|Desbuquois dysplasia 1|Epiphyseal dysplasia, multiple, 7;Desbuquois dysplasia 1
β
β
ββ2024β Residue 245
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs)Pathogenic
Desbuquois dysplasia 1|not provided|CANT1-related disorder
β
β
ββ2024β Residue 303
NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys)Pathogenic
Desbuquois dysplasia 1|Inborn genetic diseases|not provided
β
β
ββ2024β Residue 300
NM_001159773.2(CANT1):c.188del (p.Arg63fs)Pathogenic
not provided|Desbuquois dysplasia 1;Epiphyseal dysplasia, multiple, 7
β
β
ββ2024β Residue 63
NM_001159773.2(CANT1):c.228dup (p.Trp77fs)Pathogenic
Desbuquois dysplasia 1|not provided|Epiphyseal dysplasia, multiple, 7;Desbuquois dysplasia 1
β
β
ββ2024β Residue 77
NM_001159773.2(CANT1):c.258G>A (p.Trp86Ter)Pathogenic
not provided
β
β
ββ2024β Residue 86
NM_001159773.2(CANT1):c.739T>C (p.Trp247Arg)Likely pathogenic
Joint dislocation;Short stature|Desbuquois dysplasia 1;Epiphyseal dysplasia, multiple, 7
β
β
ββ2024β Residue 247
NM_001159773.2(CANT1):c.278del (p.Leu93fs)Pathogenic
not provided
β
β
ββ2024β Residue 93
NM_001159773.2(CANT1):c.71dup (p.Leu25fs)Pathogenic
not provided|Epiphyseal dysplasia, multiple, 7;Desbuquois dysplasia 1
β
β
ββ2024β Residue 25
NM_001159773.2(CANT1):c.347_348del (p.Glu116fs)Pathogenic
not provided|Desbuquois dysplasia 1
β
β
ββ2023β Residue 116
NM_001159773.2(CANT1):c.885G>A (p.Trp295Ter)Pathogenic
not provided
β
βββ2025β Residue 295
NM_001159773.2(CANT1):c.595del (p.Trp198_Val199insTer)Pathogenic
not provided
β
βββ2025β Residue 198
NM_001159773.2(CANT1):c.360_370del (p.Gln120fs)Pathogenic
not provided
β
βββ2025β Residue 120
NM_001159773.2(CANT1):c.350C>G (p.Ser117Ter)Pathogenic
not provided
β
βββ2025β Residue 117
NM_001159773.2(CANT1):c.441G>A (p.Trp147Ter)Pathogenic
not provided
β
βββ2025β Residue 147