1. Variant nomenclature
The nomenclature for the description of variants was based on the guidelines of the Human Genome Variation Society (http://varnomen.hgvs.org ). Nucleotide number was grounded in the SLC12A3cDNA sequence (RefSeq NM_000339.3), with c.1 denoting the first nucleotide of the translation initiation codon.
2. Bioinformatics predictions and