. 2021 Apr 29;9:544925. doi: 10.3389/fped.2021.544925

Table 2.

SLC12A3 mutations by WES and corroborated sanger sequencing in patients with clinically diagnosed GS.

	Location (Exon)	Variations	Protein change	Source of variation	ACMG evidence	Type of mutation	References
1st	3	c.C488T^*	p.T163M	Mother	Pathogenic	Missense	(10)
	22	c.G2612A^*	p.R871H	Mother	Pathogenic	Missense	(11)
	8	c.965-1G>A^*		Father	Pathogenic	Splicing	(12)
	8	c.C969A^*	p.D323E	Father	Pathogenic	Missense	Novel
	8	c.T971A^*	p.I324N	Father	Pathogenic	Missense	Novel
2nd	1	c.C179T^*	p.T60M	Father	Pathogenic	Missense	(13)
	17	c.C2129A^*	p.S710^*	Mother	Pathogenic	Non-sense	(14)
3rd	24	c.2883+1G>A^*		Father	Pathogenic	Splicing	(15)
	1	c.C179T^*	p.T60M	Mother	Pathogenic	Missense	(13)
4th	1	c.C179T^*	p.T60M	Father	Pathogenic	Missense	(13)
	17	c.C2129A^*	p.S710^*	Mother	Pathogenic	Non-sense	(14)
5th	1	c.C179T^**	p.T60M	Mother	Pathogenic	Missense	(13)
6th	3	c.G473A^*	p.R158Q	Father	Pathogenic	Missense	(10)
	8	c. C1000T^*	p.R334W	Mother	Likely pathogenic	Missense	(16)
7th	12	c.G1456A^*	p.D486N	Father	Likely pathogenic	Missense	(17)
	16	c.G2029A^*	p.V677M	Mother	Likely pathogenic	Missense	(10)
8th	17	c.C2129A^**	p.S710X		Pathogenic	Non-sense	(14)
9th	17	c.C2129A^**	p.S710X		Pathogenic	Non-sense	(14)
10th	3	c.G473A^*	p.R158Q	Father	Pathogenic	Missense	(10)
	Intron 4	c.602-16G>A^*		Mother	Likely pathogenic	Splicing	(15)
11th	12	c.G1456A^*	p.D486N	Father	Pathogenic	Missense	(17)
	8	c.965-1G>A^*		Mother	Pathogenic	Splicing	(12)
12th	4	c.506-1G>A^*		Father	Pathogenic	Splicing	(18)
	7	c.C991T^*	p.T304M	Mother	Pathogenic	Missense	(19)
13th	11	c.1378delG^*	p.G460Afs*32	Mother	Pathogenic	Frameshift	(20)
14th	1	c.C179T^*	p.T60M	Mother	Pathogenic	Missense	(13)
	16	c.G1964A^*	p.R655H	De novo	Pathogenic	Missense	(17)
15th	6	c.790dupG^*	p.A264Gfs*47	Father	Pathogenic	Frameshift	Novel
	8	c.C1077G^*	p.N359K	Mother	Pathogenic	Missense	(21)
16th	1	c.C179T^*	p.T60M	Father	Likely pathogenic	Missense	(13)
	2	c.426_429del^*	p.M143Ffs*10	Mother	Likely pathogenic	Frameshift	Novel
17th	5	c.602-16G>A^*		Father	Pathogenic	Splicing	(15)
	24	c.2875_2876del^*	p.R959Sfs*11	Mother	Pathogenic	Frameshift	(22)
18th	24	c.2875_2876del^*	p.R959Sfs*11		Likely pathogenic	Frameshift	(22)
19th	12	c.G1456A^*	p.D486N	Father	Pathogenic	Missense	(17)
	21	c.2548+253C>T^*		Mother	Likely pathogenic	Splicing	(23)
20th	1	c.C179T^*	p.T60M	Father	Likely pathogenic	Missense	(13)
	16	c.C1946T^*	p.T649M	Mother	Likely pathogenic	Missense	(24)
	18	c.C2243T^*	p.S748L	Mother	Likely pathogenic	Missense	(25)
21th	1	c.C179T^*	p.T60M	Father	Pathogenic	Missense	(13)
	10	c.G1289A^*	p.P430Y	Mother	Pathogenic	Missense	(1)
22th	1	c.C179T^*	p.T60M	Mother	Likely pathogenic	Missense	(13)
	1	c.G248A^*	p.R83Q	Father	Uncertain	Missense	(1)
23th	8	c.T971A^*	p.I324N		Pathogenic	Missense	Novel
	8	c.976delG^*	p.V326Sfs*44		Pathogenic	Frameshift	(26)
24th	2	c.G429A^*	p.M143I	Father	Uncertain	Missense	Novel
	14	c.T1672C^*	p.W558R	Mother	Uncertain	Missense	Novel
25th	1	c.C179T^*	p.T60M	Father	Likely pathogenic	Missense	(13)
	14	c.1736_1738delTCA^*	p.579_580del	Mother	Uncertain	Deletion	Novel
26th	8	c.965-1_976delGCGG ACATTTTTGinsACCGA AAATTTT^*		Father	Pathogenic	Splicing	(20)
27th	4	c.546_547insTCCA^*	p.T185Hfs*74	Father	Pathogenic	Frameshift	Novel
	8	c.965-1_976delGCGG ACATTTTTGinsACCGA AAATTTT^*		Mother	Pathogenic	Splicing	(20)
	24	c.C2782T^*	p.R928C	Father	Uncertain	Missense	(1)
28th	IVS 21	c.2548 + 253 C >T^**		De novo	Likely pathogenic	Splicing	(23)
	25	c.C2929T ^*	p.R977X	Father	Pathogenic	Non-sense	(17)
29th	1	c.C179T^*	p.T60M	Mother	Likely pathogenic	Missense	(13)
	3	c.486-490delTACGGinA^*	p.T163Rfs*7	Father	Likely pathogenic	Frameshift	Novel
30th	1	c.C179T^*	p.T60M	Mother	Likely pathogenic	Missense	(13)
	8	c.G1084A^*	p.G362S	Father	Likely pathogenic	Missense	Novel
31th	17	c.G2159T^*	p.G720V	Father	Uncertain	Missense	Novel
	12	c.G1456A^*	p.D486N	Mother	Pathogenic	Missense	(20)

Heterogeneous.

^**

Homozygous.

GS, Gitelman syndrome; WES, whole-exome sequencing.