[EMS] | Family | No. Indiv 1/total* | Mutation (Nt) | Mutation (AA) | PSSM difference | Sift score |
---|---|---|---|---|---|---|
0,3 | 645 | 3/3 | G1734A | E351K | 11.0 | 0.09 |
 | 759 | 1/3 | G1218A | V252I | 7.3 | 0.11 |
 | 823 | 1/5 | G1026A | G188R | 30.4 | 0.00 |
 | 1021 | 1/4 | G990A | G176R | _ | 0.00 |
 | 1411 | 1/3 | G936A | A158T | 11.0 | 0.09 |
 | 1564 | 1/1 | C1303T | P280L | _ | 0.00 |
0.75 | 814 | 1/1 | C999T | Q179Stop | damaging | damaging |
 | 877 | 1/3 | C1079T | H205Q | 8.0 | 0.01 |
 | 884 | 1/2 | G1137A | G225R | 12.8 | 0.09 |