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.