Patient | Exon | Codon no. | Codon change | Amino acid change |
---|---|---|---|---|
B3 | 5b | 171 | GAC → TAG | Glu → End |
B11 | 5b | 175 | CGC → CAC | Arg → His |
B12 | 6 | 213 | CGA → CGG | Arg → Arg |
B15 | 6 | 213 | CGA → CGG | Arg → Arg |
B16 | 6 | 193 | CAT → GAT | His → Asp |
B27 | 8 | 267 | CGG → CAG | Arg → Glu |
B28 | 7 | 248 | CGG → CAG | Arg → Gln |
B30 | 6 | 198 | GAA → TAA | Glu → End |
B33 | 7 | 248 | CGG → CAG | Arg → Gln |
B37 | 5b | 179 | CAT → CGT | His → Arg |
B45 | 8 | 273 | CGT → TGT | Arg → Cys |
B46 | 6 | 216 | GTG → TTG | Val → Leu |
B50 | 6 | 216 | GTG → ATG | Val → Met |