. 2022 Mar 17;13:819641. doi: 10.3389/fendo.2022.819641

Table 7.

CLCN7 mutations in ADO II patients.

Number	Nucleotide change	Amino acid change	Mutation type	Cases	Frequency
1	c.2299C>T	p.Arg767Trp	Missense	6	16.2%
2	c.296A>G	p.(Tyr99Cys)	Missense	4	10.8%
3	c.857G>A	p.(Arg286Gln)	Missense	4	10.8%
4	c.937G>A	p.(Glu313Lys)^a	Missense	3	8.1%
5	c.2236T>G	p.(Tyr746Asp)^a	Missense	2	5.4%
6	28974C>T	p.(Arg743Trp)^a	Missense	2	5.4%
7	c.746C>T	p.(Pro249Leu)	Missense	1	2.7%
8	c.856C>T	p.(Arg286Trp)	Missense	1	2.7%
9	c.865G>C	p.(Val289Leu)^a	Missense	1	2.7%
10	19852C>T	p.(Ser290Phe)^a	Missense	1	2.7%
11	c.896C>T	p.(Ala299Val)^a	Missense	1	2.7%
12	20247C>G	p.(Ala316Gly)^a	Missense	1	2.7%
13	c.953T>C	p.(Phe318Ser)^a	Missense	1	2.7%
14	c.955T>A	p.(Trp319Arg)^a	Missense	1	2.7%
15	c.1625C>T	p.(Ala542Val)^a	Missense	1	2.7%
16	28968G>C	p.(Gly741Arg) ^a	Missense	1	2.7%
17	c.2258C>G	p.(Ser753Trp)^a	Missense	1	2.7%
18	c.2284C>T	p.(Arg762Trp)	Missense	1	2.7%
19	c.2332-2A>G^a		Intron splice	1	2.7%
20	c.2250+1G>A		Intron splice	1	2.7%
21	2392-/G	p.(Glu789GlyfsX129)^a	Frameshift	1	2.7%

indicates a novel mutation we has reported from 2008 to 2021.

GenBank accession number of the CLCN7 variant cDNA: NM_001287.6.