Mutation description must follow the following rules:
- Substitution, e.g. "c.2A>T;" represents that 'A' at cDNA position 2 is substituted to "T";
- Deletion, describe it as either of the following example:
- "c.2_4del;" represents that the nucleotides at position 2, 3, 4 are deleted;
- "c.3del;" represents that the nucleotide at position 3 is deleted;
[The substitution and deletion position can be from 1 to the length of the original cDNA.]
- Insertion, e.g. "c.3insATC;" represents that 'ATC' are inserted after the 3rd position;
[The insertion position can be from 0 to the length of the original cDNA.]
- Each item of mutation description must be followed by ';'
- For complex mutations, if both deletion and insertion occur in the description, make sure
the deletion position and insertion position do not overlap. Otherwise, we do not ensure correct
results. For example, if "ATGCAGC..." is mutated to "AGCTCAGC...", describe as "c.2T>G;c.3G>C;c.3insT;" other than "c.2_3del;c.1insGCT;"