Table 2.
Exon | Nucleotide change | Amino acid change | Number of mutations | Frequency of mutation (%) |
---|---|---|---|---|
7 | c.742C>T1 | R248C | 8 | 11.3 |
7 | c.746C>G | S249C | 34 | 47.9 |
10 | c.1114G>T | G372C | 5 | 7.1 |
10 | c.1117A>T | S373C | 1 | 1.4 |
10 | c.1124A>G | Y375C | 16 | 22.5 |
10 | c.1144G>A | G382R | 2 | 2.8 |
10 | c.1178C>A | A393E | 1 | 1.4 |
15 | c.1954A>C | K652E | 3 | 4.2 |
15 | c.1954A>G | K652Q | 1 | 1.4 |
nucleotide position according to the FGFR3b isoform numbering from the initiating ATG