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