Mutations must follow the HGVS nomenclature. Information on this format can be found here
The following types of mutations are currently allowed:
Important! The mutations and resulting library files are in reference to the H37Rv (NC_000962.3/AL123456.3) reference genome.
- Amino acid substitutions: Example: S450L in rpoB would be p.Ser450Leu
- Deletions in genes: Example: Deletion of nucleotide 758 in tlyA would be c.758del
- Insertion in genes: Example: Insertion of GT between nucleotide 1850 and 1851 in katG would be c.1850_1851insGT
- SNPs in non-coding RNAs: Example: A to G at position 1401 in rrs would be r.1401a>g
- SNPs in gene promoters: Example: A to G 7 bases 5' of the start codon in pncA c.-7A>G