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.