Table 1.
Case | Codon (exon) | Mutation | Change in amino acid |
---|---|---|---|
LB14 | 158 (5) | CGC→CAC | Arg→His |
LB21 | 244 (7) | GGC→GAC | Gly→Asp |
LB47 | 273 (8) | CGT→CAT | Arg→His |
LB48 | 273 (8) | CGT→CAT | Arg→His |
LB54 | 270 (8) | TTT→CTT | Phe→Leu |
LB146 | 245 (7) | GGC→AGC | Gly→Ser |
LB194 | 157 (5) | GTC→TTC | Val→Phe |
LB271 | 135 (5) | TGC→TTC | Cys→Phe |
LB322 | 213 (6) | CGA→CGG | Arg→Arg |
LB415 | 213 (6) | CGA→CGG | Arg→Arg |
BL13 | 196 (6) | CGA→TGA | Arg→STOP |
BL172 | 248 (7) | CGG→CAG | Arg→Gln |
BL324 | 215 (6) | AGT→CGT | Ser→Arg |
213 (6) | CGA→CGG | Arg→Arg |