Family | Position | Nucleotide position | Amino acid substitution | Domain | Type of change |
---|---|---|---|---|---|
PCL-163 | Ex 18 | 2560 G>A | G854S | TK I domain | Missense mutation |
PCL-902 | Ex 18 | 2560 G>A | G854S | TK I domain | Missense mutation |
PCL-100 | Ex 19 | 2743 G>C | A915P | TK I domain | Missense mutation |
PCL-900 | Ex 19 | 2748 C>G | C916W | TK I domain | Missense mutation |
PCL-101 | Ex 20 | 2797 G>C | G933R | TK I domain | Missense mutation |
PCL-102 | Ex 20 | 2797 G>C | G933R | TK I domain | Missense mutation |
PCL-001 | Ex 23 | 3121 C>T | R1041W | TK II domain | Missense mutation |
PCL-107 | Ex 23 | 3122 G>A | R1041Q | TK II domain | Missense mutation |
PCL-66 | Ex 24 | nt 3323-3325 del TCT | del F 1108 | TK II domain | Deletion |
PCL-144 | Ex 25 | 3410 C>T | P1137L | TK II domain | Missense mutation |