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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

  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)
  1. aThe underscores indicate difference between SNV- and MNV- annotations