Table 2.
Regular expression | Example |
---|---|
\d+\s?[A-Z]/[A-Z] | 3123 C/A, 3123C/A |
\d+[A-Z] | 123C, 825T |
[A-Z]\s?\d+ | C 123, T 825 |
[A-Z]\d+[A-Z] | C825T |
\d+\s?[A-Z](-{0,2}>|to)\s?[A-Z] | 866C–>T, 825 C to T, 926G>C |
Amino acid–>Amino acid\d+ | Gly–>Arg483 |
[A-Z] to [A-Z]\s?\d+ | C to T 825 |
\d+\s?([A-Z]>[A-Z]) | 969(G>C), 969 (G>C) |
Amino acid(\d+)Amino acid | Ile(655)Val |
SNP|rs\d{2,} | rs7805828, SNP |
(-?\d*)del[A-Z] | −36delG, delT |
[ATCG]\.\d+[ATCG]>[ATCG] | C.553G>T |
aAmino acid refers to the abbreviation of amino acids, such as ‘Gly’ and ‘Arg’.