Search term | No. entries found | No. databases | Entry no./name of database | Phenotype found |
---|---|---|---|---|
Mutation 1 | Â | Â | Â | Â |
'PAH G148S'a | 0 | - | Â | Â |
PAH G148Sb | 19 | 2 | 3/PAH LKf | No |
 |  |  | 5/FINDbase | No |
'PAH Gly148Ser' | 0 | - | - | Â |
PAH Gly148Ser | 0 | - | - | Â |
'PAH GLY148SER' | 0 | - | - | Â |
PAH GLY148SER | 0 | - | - | Â |
Mutation 2 | Â | Â | - | Â |
'MLH1 Q62K' | 2 | 0 | - | Â |
MLH1 Q62K | 10 | 0 | - | Â |
'MLH1 Gln62Lys' | 0 | - | - | Â |
MLH1 Gln62Lysc | 8 | 0 | - | Â |
Mutation 3 | Â | Â | - | Â |
'MLH1 K618A' | 7 | 0 | - | Â |
MLH1 K618A | 159 | 2 | 55;56/LOVDd | Yes |
 | (72)e |  |  |  |
'MLH1 Lys618Ala' | 4 | 0 | - | Â |
MLH1 Lys618Alac | 283 | 2 | 37;49/LOVDd | Yes |
 | (80)e | 1 | 53/GeneCards | No |
Mutation 4 | Â | Â | Â | Â |
'BRCA2 D2723H' | 6 | 0 | Â | Â |
BRCA2 D2723H | 87 | 1 | 11/kConFab Consortium | Yes |
 | (33)e |  |  |  |
'BRCA2Asp2723His' | 0 | - | Â | Â |
BRCA2Asp2723Hisc | 5 | 1 | 4/kConFab Consortium | Yes |
Mutation 5 | Â | Â | Â | Â |
'BRCA1 V772A' | 0 | - | Â | Â |
BRCA1 V772A | 12 | 1 | 12/kConFab Consortium | Yes |
'BRCA1 Val772Ala' | 0 | - | Â | Â |
BRCA1 Val772 Alac | 1 | 1 | 1/kConFab Consortium | Yes |