Table 1.

Variants in SUPT5H (NM_001111020.3). * Delta score [0–1.0] generated by SpliceAI # GnomAD v4.0.0.

Nr.	HGVS Annotation	Molecular Effect	In Silico Prediction *	Description	Etnic Origin	GnomAD Allele Frequency #	Reference
1	c.142G>T	p.Glu48*		nonsense	Chinese		[4]
2	c.193C>T	p.Arg65*		nonsense	Chinese	7.15 × 10−7	[15]
3	c.397C>T	p.Arg133*		nonsense	Chinese	3.05 × 10−6	[17]
4	c.458+1G>A		1.00	Donor loss	Dutch		[3]
5	c.631C>T	p.Gln211*		nonsense	Chinese		[4]
6	c.817delC	p.Leu273*		nonsense	French		[3]
7	c.1195C>T	p.Gln399*		nonsense	Chinese		[16]
8	c.1374+2T>C		0.71	Donor loss	Greek		[3]
9	c.1405delA	p.Arg469Glufs*10		Frameshift	Chinese		[4]
10	c.1741_1744dupAACC	p.Arg582Glnfs*21		Frameshift	Greek		[3]
11	c.1782_1785delCCAT	p.Ile594Metfs*2		Frameshift	Chinese?		[3]
12	c.1789A>T	p.Leu597*		nonsense	?		[11]
13	c.1855C>T	p.Arg619*		nonsense	?		[4]
14	c.1901dupG	p.Met635Hisfs*19		Frameshift	Chinese		[4]
15	c.1979delG	p.Gly660Valfs*6		Frameshift	Dutch		[3]
16	c.1993_1994delTA	p.Met665Glufs*19		Frameshift	?		[11]
17	c.2245C>T	p.Arg749Trp	0.69	Donor gain	?	2.40 × 10−6	[11]
18	c.2247delG	p.Leu750Serfs*11		Frameshift	?		[11]
19	c.2259-3C>A		0.09	-	Dutch		[3]
20	c.2368C>T	p.Gln790*		nonsense	French		[10]
21	c.2507A>G	p.Tyr836Cys		Alternative splicing	?		[11]
22	c.2725delC	p.Gln909Argfs*45		Frameshift	Dutch		[3]
23	c.2823_2850dup	p.Ser951*		nonsense	Chinese		[4]
24	c.3032_3033delTG	p.Met1011Metfs*9		Frameshift	Chinese		[17]
25	c.3034T>A	p.Cys1012Ser	0.02	-	?		[11]
26		EXON 21 -2 A>G		Splice acceptor	?		[11]
27		p.Glu455Aspfs*23		Frameshift	?		[11]
28		del(chr19:39936531-40030719)		?	Chinese		[4]