Gene | Chromosome | Exon | Nucleotide | Mutation type | Protein change | Previously reported in other populations |
---|---|---|---|---|---|---|
ARID1A | 1 | 20/20 | c.5276_5277insG | Insertion | p. E1760fs | Yes |
c.5789Â C >A | Substitution | p. S1930 | Yes | |||
c.5846del A | Deletion | p. H1949fs | Yes | |||
MLH1 | 3 | 6/19 | c.542_543delGC | Deletion | p. G181D | Yes |
PIK3CA | 3 | 9 | c.1624G >A | Substitution | p. E542K | Yes |
20 | c.3140Â A >G | Substitution | p. H1047R | Yes | ||
ARID2 | 12 | 24 | c.1759Â A >G | Substitution | p. S587G | Yes |
TP53 | 17 | 8 | c.845G >C | Substitution | p. R150P | Yes |
c.856G >A | Substitution | p. E11Q | Yes |