Table 1 Results of SNV- and MNV- based amino acid predictions in test MAC run
From: MAC: identifying and correcting annotation for multi-nucleotide variations
| Â | Mutation | SNV annotationa | MNV annotation | Gene (mRNA) |
|---|---|---|---|---|
1 | chr6.12121325.C > G | P433A (missense) | P433G (missense) | HIVEP1 (NM_002114) |
2 | chr6.12121326.C > G | P433R (missense) | ||
3 | chr17.7577084.T > A | E285V (missense) | E285L (missense) | TP53 (NM_000546) |
4 | chr17.7577085.C > G | E285Q (missense) | ||
5 | chr6.44376224.C > G | A316G (missense) | A316G (missense) | CDC5L (NM_001253) |
6 | chr6.44376225.G > C | A316A (silent) | ||
7 | chr18.72775594.T > A | L1973I (missense) | L1973K (missense) | ZNF407 (NM_017757) |
8 | chr18.72775595.T > A | L1973a (nonsense) |