From: MYH Gene Status in Polish FAP Patients without APC Gene Mutations
No. | Proband | Mutation | Genetic variant | Phenotype |
---|---|---|---|---|
1 | 9039 | 494A>G 506G>A | Y165C G169D | FAP |
2 | 9121 | 494A>G | Y165C | FAP |
3 | 9160 | 494A>G | Y165C | FAP |
4 | 9164 | 494A>G | Y165C | FAP |
5 | 9056 | 1145G>A | G382D | AFAP |
6 | 9101 | 1145G>A | G382D | FAP |
7 | 9109 | 1145G>A | G382D | FAP |
8 | 9113 | 1145G>A | G382D | FAP |
9 | 9120 | 1145G>A | G382D | FAP |
10 | 9132 | 1145G>A | G382D | FAP |
11 | 9133 | 1145G>A | G382D | AFAP |
12 | 9140 | 1145G>A | G382D | AFAP |
13 | 9157 | 1145G>A | G382D | FAP |
14 | 9052 | 64G>A | V22M | FAP |
15 | 9054 | 64G>A | V22M | FAP |
16 | 9055 | 64G>A | V22M | FAP |
17 | 9072 | 64G>A | V22M | FAP |
18 | 9163 | 64G>A | V22M | AFAP |