TABLE 1.

Showing the reported IRF6 mutations from 2013 till date

Exon	cDNAPos	Mutation	Nucleotide change	Mutation type	CADD score	Population	References
3	77	p. Leu26Pro	T > C	missense	32	1	Sunny et al. (2019)
7	720	c.720del c	c.720del c	frameshift	16.53	1	Ural et al. (2019)
4	294	p. Asp98Glu	T > G	missense	22.9	1	Wang et al. (2019)
8	1138	p.Pro380Ser	C > T	missense	29.6	1	Wang et al. (2019)
chr1:209.872.038–210.246.107		chr1:209.872.038–210.246.107		Microdeletion	N/A	1	Mbuyi‐Musanzayi, (2019)
4	254	C85F	C > T	Missense	25.8	1	Leslie et al. (2016)
7	1060+1			Splice site	N/A	1
4	c.165delC	p.Ile56phefs*7		Indels	N/A	1
4	c.379delG	p.Gly127valfs*43		indels	N/A	1
4	175‐2		A > C	Splice site	33	1	Gowans, 2017
4	194	p.Gly65Val	G > T	Missense	26.2	1
4	205	p.Glu69Lys	G > A	Missense	32	2
4	379+1		G > T	Splice site	34	1
6	554	p.Asp185Thr	A > C	Missense	21.7	1
7	960	p.Lys320Asp	G > C	Missense	25.7	1
3	113	p.Iso38Thr	T > C	Missense	27.8	1	Tan et al, 2008
4	196	p.Lys66X	A > T	Nonsense	38	1	Butali et al., 2014
4	551	p.Pro126Pro	T > A	Splice site	N/A	2
7	690	p.PheF230Leu	T > G	Missense	23.8	5
8	1139	Pro380Gln	C > A	Missense	28.5	1	Khandelwal et al, (2017)
5	673	Asp225His	G > C	Missense	32	1
3	107	p.Phe36Tyr	T > A	Missense	29.3	1	This study
4	326	p.Lys109Thr	A > C	Missense	23.6	1	This study
9	1313	p.Gln438Leu	A > T	Missense	25.5	1	This study

[Correction added on 17 July 2020, after first online publication: in Table 1, the last 2 mutation details under ‘Mutation’ column have been changed from ‘p.Pro109Thr’ to ‘p.Lys109Thr’ and ‘p.Glu438Leu’ to ‘p.GLn109Thr’, respectively.]