Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report

Table 1 Reads alignment and sequencing depth

Total reads	Mapped reads	Duplicate reads	Mean depth
214137288	99.83%	11.81%	282X

Table 2 Candidate genes

Type	Information
Gene	SLC12A3
RNA	NM_000339
Exon	exon22
DNA mutation	G2582A
AA mutation	R861H
Mutation frequency	50%
Population frequency	Unknown
Polyphen2_HDIV	D, D, D
FATHMM	D
MutationTaster	D
MutationAssessor	L
LRT	D
SIFT	T

Table 3 Mutation in exon 22 of SLC12A3 gene

Exon	Mutation	Pmid
exon22	Glv876Ser	17654016
exon22	Leu849His	17873326, 20229814
exon22	Arg852His	17873326, 20229814
exon22	Arg861Cys	27872838
exon22	Arg871His	21051746
exon22	Leu859Pro	21753071
exon22	Arg861Cys	21753071
exon22	Arg861His	Present study