Table 3. Recurrent TP53 mutations in GDPH cohort.
| Position (codon) | DNA/base change | Protein/amino acid change | Exon | Type of mutation | No. of altered cases |
|---|---|---|---|---|---|
| 135 | c.403dup | p.C135fs | 5 | Frameshift | 2 |
| 141 | c.420del | p.C141fs | 5 | Frameshift | 1 |
| c.422G>A | p.C141Y | 5 | Missense | 1 | |
| 157 | c.468del | p.V157fs | 5 | Frameshift | 1 |
| c.470T>A | p.V157D | 5 | Missense | 1 | |
| 173 | c.517G>T | p.V173L | 5 | Missense | 2 |
| 175# | c.524G>A | p.R175H | 5 | Missense | 5 |
| 183# | c.548C>G | p.S183* | 5 | Nonsense | 3 |
| 192 | c.574C>T | p.Q192* | 6 | Nonsense | 2 |
| 195# | c.584T>C | p.I195T | 6 | Missense | 3 |
| 205 | c.613T>C | p.Y205H | 6 | Missense | 1 |
| c.614A>G | p.Y205C | 6 | Missense | 1 | |
| 213# | c.637C>T | p.R213* | 6 | Nonsense | 2 |
| c.638G>T | p.R213L | 6 | Missense | 1 | |
| 215# | c.644G>T | p.S215I | 6 | Missense | 2 |
| c.643_645dup | p.S215dup | 6 | Inframe | 1 | |
| 220 | c.659A>G | p.Y220C | 6 | Missense | 2 |
| 236# | c.704_709del | p.N235_Y236del | 7 | Inframe | 1 |
| c.707A>G | p.Y236C | 7 | Missense | 1 | |
| c.708C>A | p.Y236* | 7 | Nonsense | 1 | |
| 242# | c.723Cdel | p.C242fs | 7 | Frameshift | 2 |
| c.725G>A | p.C242Y | 7 | Missense | 2 | |
| 244# | c.730G>A | p.G244S | 7 | Missense | 1 |
| c.730G>T | p.G244C | 7 | Missense | 1 | |
| c.727_732dup | p.G244_G245insMG | 7 | Inframe | 1 | |
| 245# | c.733G>A | p.G245S | 7 | Missense | 2 |
| c.734G>T | p.G245V | 7 | Missense | 2 | |
| 248# | c.743G>A | p.R248Q | 7 | Missense | 6 |
| c.742C>T | p.R248W | 7 | Missense | 2 | |
| 261# | c.782+1G>T | X261_splice | 7 | Splice | 1 |
| c.783-19_786delinsA | X261_splice | 8 | Splice | 1 | |
| c.783-26_795del | X261_splice | 8 | Splice | 1 | |
| 273# | c.818G>A | p.R273H | 8 | Missense | 3 |
| c.817C>T | p.R273C | 8 | Missense | 1 | |
| 275 | c.823T>C | p.C275R | 8 | Missense | 1 |
| c.823T>G | p.C275G | 8 | Missense | 1 | |
| 278# | c.832C>T | p.P278S | 8 | Missense | 2 |
| c.833C>A | p.P278H | 8 | Missense | 1 | |
| c.833C>G | p.P278R | 8 | Missense | 1 | |
| 282# | c.844C>T | p.R282W | 8 | Missense | 3 |
| 307# | c.919+1G>T | X307_splice | 8 | Splice | 1 |
| c.920-1G>C | X307_splice | 9 | Splice | 1 | |
| c.920-1_920GCdelinsTT | X307_splice | 9 | Splice | 1 | |
| 331# | c.991C>T | p.Q331* | 9 | Nonsense | 1 |
| c.993+1G>A | X331_splice | 9 | Splice | 1 | |
| c.993+2T>A | X331_splice | 9 | Splice | 1 | |
| c.994-1G>A | X331_splice | 10 | Splice | 1 | |
| 342# | c.1024C>T | p.R342* | 10 | Nonsense | 3 |
| c.1025del | p.R342fs | 10 | Frameshift | 1 | |
| c.1024del | p.R342fs | 10 | Frameshift | 1 |
#, ≥3 altered cases in our cohort; *, indicate the nonsense mutation.