Table 2

Molecular data of the 13 de novo TFE3 mutations: characteristics, inheritance, frequency in the public database GnomAD, prediction scores regarding pathogenicity (Polyphen, Grantham and CADD (Combined Annotation Dependant Depletion) scores); the transcript is NM_006521.5

Patient	Genomic position	cDNA	Protein	Exon	Function	Status	GnomAD	Polyphen	Grantham score	CADD score
1	g.48896810T>G	c.356A>C	p.Gln119Pro	3	Missense	Germline	0	0.94	76	16.33
13	g.48896816C>T	c.350G>A	p.Arg117Gln	3	Missense	Germline	0	0.991	43	25.5
14	g.48896816C>T	c.350G>A	p.Arg117Gln	3	Missense	Mosaic	0	0.991	43	25.5
2	g.48895945G>A	c.557C>T	p.Pro186Leu	4	Missense	Germline	0	1	98	25.8
3, 11, 15	g.48895942G>A	c.560C>T	p.Thr187Met	4	Missense	Germline	0	1	81	21.6
16	g.48895942G>C	c.560C>G	p.Thr187Arg	4	Missense	Mosaic	0	1	71	20.7
4	g.48895943T>G	c.559A>C	p.Thr187Pro	4	Missense	Germline	0	1	58	16.5
5, 6	g.48895930A>G	c.572T>C	p.Leu191Pro	4	Missense	Germline	0	0.994	98	24.1
7	g.48598900G>T	c.602A>C	p.Gln201Pro	4	Missense	Germline	0	0.995	76	15.13
8	g.48895942G>T	c.560C>A	p.Thr187Lys	4	Missense	Germline	0	1	78	21.6
9	g.48895721C>T	c.780+1G>A	–	Intron 4	Splice site	Germline	0	–	–	–
10	g.48895951T>C	c.551A>G	p.Glu184Gly	4	Missense	Germline	0	1	98	17.81
12	g.48895936T>C	c.566A>G	p.Tyr189Cys	4	Missense	Germline	0	0.995	194	19.800
17	g.48895932G>C	c.570C>G	p.His190Gln	4	Missense	Germline	0	0.998	24	15.81

TFE3, transcription factor 3.