No. | Incidence | AI | UI | Party of lesions | Amid-acid substitution | Exon | Mutation type | Predicted mutation effects | ||
---|---|---|---|---|---|---|---|---|---|---|
SIFT | Polyphen 2.0 | DDIG-in | ||||||||
1 | Familial | 3 | 7 | Back of hands and feet | p.R1030DfsX1036 | 12 | Frameshift | D | - | D |
2 | Familial | 7 | 19 | Back of hands and feet, ankles, forearms, neck, face | p.Stop1227R | 15 | Nonstop | - | - | - |
3 | Familial | 6 | 11 | Back of hands and feet, ankles, forearms, face | p.G803VfsX807 | 7 | Frameshift | D | - | D |
4 | Familial | 5 | 18 | Back of hands and ankles | p.R360X | 2 | Nonsense | - | - | D |
5 | Familial | 4 | 8 | Back of hands and feet, face | p.D1147VfsX1184 | 14 | Frameshift | D | - | D |
6 | Familial | 4 | 6 | Back of hands and feet | p.R474X | 2 | Nonsense | - | - | D |
7 | Familial | 4 | 4 | Back of hands and feet, forearms | p.R1083H | 13 | Missense | D | D | - |
1 | Sporadic | 1 | 0 | Back of hands and feet,face | p.W768X | 7 | Nonsense | - | - | D |
2 | Sporadic | 1 | 0 | Back of hands and feet, face | - | - | - | - | - | - |