Table 1.
Position | Exon | AA Mutation | CDS Mutation | Effect | Frequency (n = 122, %) |
---|---|---|---|---|---|
2: 197402759 | 14 | p.R625H | c.1874G > A | Missense | 61 (50%) |
2: 197402760 | 14 | p.R625C | c.1873C > T | Missense | 38 (31%) |
2: 197402759 | 14 | p.R625L | c.1874G > T | Missense | 7 (5.7%) |
2: 197402760 | 14 | p.R625G | c.1873C > G | Missense | 1 (0.8%) |
2: 197402759 | 14 | p.R625P | c.1874G > C | Missense | 1 (0.8%) |
2: 197402760 | 14 | p.R625S | c.1873C > A | Missense | 1 (0.8%) |
2: 197402775 | 14 | p.M620V | c.1858A > G | Missense | 1 (0.8%) |
2: 197402767 | 14 | p.E622D | c.1866G > C | Missense | 1 (0.8%) |
2: 197402766 | 14 | p.Y623H | c.1867T > C | Missense | 1 (0.8%) |
2: 197402636 | 14 | p.K666T | c.1997A > C | Missense | 2 (1.6%) |
2: 197402110 | 15 | p.K700E | c.2098A > G | Missense | 1 (0.8%) |
2: 197401765 | 16 | p.E783K | c.2347G > A | Missense | 1 (0.8%) |
2: 197401771 | 16 | p.D781N | c.2341G > A | Missense | 1 (0.8%) |
2: 197401887 | 16 | p.G742D | c.2225G > A | Missense | 1 (0.8%) |
2:197396227 | 23 | p.C1123Y | c.3368G > A | Missense | 1 (0.8%) |