Supplementary Table 1.
Fibroblast growth factor receptor 1 mutants identified in our patient series
| Mutation type | Nucleotide | Amino acid | Novel | ACMG |
|---|---|---|---|---|
| Missense mutations | c.817G>A | V273M | − | LP |
| Missense mutations | c.1097C>T | P366L | − | US LP |
| Missense mutations | c.1271G>A | R424H | − | US |
| Missense mutations | c.778G>C | G260R | + | LP |
| Missense mutations | c.1072G>T | V358F | + | P |
| Missense mutations | c.2282C>T | T761I | + | US |
| Missense mutations | c.976C>T | L326F | + | US |
| Missense mutations | c.374C>T | S125L | + | US |
| Missense mutations | c.3G>A | M1I | + | LP |
| Missense mutations | c.238C>T | R80C | + | US |
| Missense mutations | c.2104C>A | P702T | + | US |
| Splice site mutation | c.1854+1G>C | Splicing | + | LP |
| Splice site mutation | c.359-1G>A | Splicing | + | LP |
| Deletions | c.536delC | P179Lfs*13 | + | P |
| Insertions | c.2226dupA | Q743Tfs*57 | + | P |
| Insertions | c.838dupT | Y280Lfs*2 | + | P |
| Deletions | c.54_55del | C19Hfs*3 | + | P |
| Deletions | c.250_264delGAGGAGGTGGAGGTG | 84_88delEEVEV | + | LP |
| Deletions | c.325_342delAGTGACACCACCTACTTC | 109_114delSDTTYF | + | LP |
Nucleotid - G: guanine; C: cytosine; T: thymine; A: adenine. Amino acid - G: glycine; R: arginine; V: valine; F: phenylalanine; T: threonine; I: isoleucine; L: leucine; S: serine; M: methionine; C: cysteine; H: histidine; P: praline; Y: tyrosine; Q: glutamine; E: glutamic acid; D: aspartic acid. Novel - +: yes; −: no. ACMG - P: pathogenic; LP: likely pathogenic; US: uncertain. ACMG: American College of Medical Genetics and Genomics