Variant Nomenclature
DNA variant numbering is based on the cDNA sequence for SLC4A1 (GenBank NM_000342.3), ATP6V1B1 (GenBank NM_001692.3), ATP6V0A4(GenBank NM_020632.2), FOXI1 (GenBank NM_012188.4) andWDR72 (GenBank NM_182758.3). The variant nomenclature was described according to the guidelines of the Human Genome Variation Society (http://varnomen.hgvs.org), with numbering starting at the first position of the translation start codon.