. 2020 Oct 28;10(11):258. doi: 10.3390/life10110258

Table 1.

Global distribution of connexin 30 (GJB6) gene variants.

Country/Territory	Number of Alleles *	Protein Change	Nucleotide Change	Reference Number	Clinical Significance				Reference
Country/Territory	Number of Alleles *	Protein Change	Nucleotide Change	Reference Number	Intervar	Varsome	ClinVar	Verdict	Reference
Taiwan	1/520	p.A40V	c.119C > T	rs780320724	Likely Pathogenic	Likely Pathogenic	Pathogenic	Pathogenic	[23]
Malaysia	3/NA	-	366delT	-	-	-	-	-	[26]
Germany	1/376	-	682insA	-	-	-	-	-	[27]
Uganda	2/230	p.N113K	c.339T > A	rs143766955	Benign	Likely Benign	Benign	Benign	[28]
Uganda	1/230	c.476A > G	p.N159S	rs35277762	Benign	Likely Benign	Benign	Benign	[28]
Malaysia	2	p.E101K	c.301G > A	rs571454176	Likely Benign	Uncertain Significance	Uncertain Significance	Uncertain Significance	[26]
Malaysia	1/NA	p.A148D	c.443_444 delC AinsAC	-	-	Uncertain Significance	-	Uncertain Significance	[26]
Malaysia	1/NA	p.Q124H	-	-	Uncertain Significance	Uncertain Significance	-	Uncertain Significance	[26]
Slovenia	1/144	p.M203V	c.607A > G	rs200674715	Uncertain Significance	Likely Benign	Benign	Benign	[29]
Germany	1/376	p.M203V	c.607A > G	rs200674715	Uncertain Significance	Likely Benign	Benign	Benign	[27]
Korea	1/394	p.I248V	c.742A > G	rs747371119	Uncertain Significance	Uncertain Significance	Uncertain Significance	Uncertain Significance	[30]
Qatar	1/NA	p.P70L	c.209C > T	rs727505123	Uncertain Significance	Uncertain Significance	Uncertain Significance	Uncertain Significance	[31]
Korea	1/394	p.P87P	c.261A > T	rs777309137	Likely Benign	Likely Benign	-	Benign	[30]
Germany	6/396	p.T5M	c.14C > T	rs104894414	Likely Pathogenic	Uncertain Significance	Pathogenic	Pathogenic	[24]
Malaysia	1/NA	p.R32Q	c.95G > A	rs766604251	Uncertain Significance	Uncertain Significance	-	Uncertain Significance	[26]
Germany	1/376	p.V190A	c.569 T > C	rs780513857	Uncertain Significance	Uncertain Significance	Uncertain Significance	Uncertain Significance	[26,27]
Malaysia	1/NA	p.I145H	c.433_434 delA TinsCA	-		Uncertain Significance	-	Uncertain Significance	[26]

* The numerators in this column represent the number of mutated alleles, and the denominators the total number of screened alleles. NA, not applicable (the authors were not clear on the total number of alleles they have screened), InterVar, VarSome, and ClinVar are databases to assess the clinical significance of the variants.