Table 3.
Regular expression patterns of genomic and protein mutations based on examination of HGVS mutation nomenclature
| Type | Regular expression patterns | Example |
|---|---|---|
| Genomic | ([cgrm]\.[ATCGatcgu \/\>\<\?\(\)\[\]\;\:\*\_\-\+0-9]+(inv|del|ins|dup|tri|qua|con|delins|indel)[ATCGatcgu0-9\_\.\:]*) | c.2708_2711delTTAG |
| Genomic | (IVS[ATCGatcgu \/\>\<\?\(\)\[\]\;\:\*\_\-\+0-9]+(del|ins|dup|tri|qua|con|delins|indel)[ATCGatcgu0-9\_\.\:]*) | IVS2-58_55insT |
| Genomic | ([cgrm]\.[ATCGatcgu \/\>\?\(\)\[\]\;\:\*\_\-\+0-9]+) | c.467C>A |
| Genomic | (IVS[ATCGatcgu \/\>\?\(\)\[\]\;\:\*\_\-\+0-9]+) | IVS3+18C>T |
| Genomic | ([cgrm]\.[ATCGatcgu][0-9]+[ATCGatcgu]) | c.A436C |
| Genomic | ([ATCGatcgu][0-9]+[ATCGatcgu]) | A436C |
| Genomic | ([0-9]+(del|ins|dup|tri|qua|con|delins|indel)[ATCGatcgu]*) | 912delTA |
| Protein | ([p]\.[CISQMNPKDTFAGHLRWVEYX \/\>\<\?\(\)\[\]\;\:\*\_\-\+0-9]+(inv|del|ins|dup|tri|qua|con|delins|indel|fsX|fsx|fs x|fs)[CISQMNPKDTFAGHLRWVEYX \/\>\<\?\(\)\[\]\;\:\*\_\-\+0-9]*) | p.G204VfsX28 |
| Protein | ([p]\.[CISQMNPKDTFAGHLRWVEYX \/\>\?\(\)\[\]\;\:\*\_\-\+0-9]+) | p.G204V |
| Protein | ([p]\.[A-Z][a-z]{0,2}[\W\-]{0,1}[0-9]+[\W\-]{0,1}[A-Z][a-z]{0,2}) | p.Ser157Ser |
| Protein | ([p]\.[A-Z][a-z]{0,2}[\W\-]{0,1}[0-9]+[\W\-]{0,1}(fs|fsx|fsX)) | p.Ser119fsX |