Molecular Vision: Corso-Díaz, Mol Vis 2012; 18:2770-2782. Table 4

Table 4. Variants found in B3GALTL, CYP1B1, FOXC1, and FOXE3.

Gene	Nucleotide change^a	Amino acid change	Location	Previously reported
B3GALTL	c.597–23delA	N/A	Intron 7	dbSNP
	c.781–34_31dup	N/A	Intron 9	This study
	c.1065–142T>C	N/A	Intron 12	dbSNP
	c.348T>C	p.(=)	Exon 6	dbSNP
	c.660+1G>A^b	N/A	Intron 8	[11,59]
CYP1B1	c.142C>G	p.Arg48Gly	Exon 2	dbSNP
	c.1294G>C	p.Val432Leu	Exon 3	dbSNP
	c.1347T>C	p.(=)	Exon 3	dbSNP
	c.1358A>G	p.Asn453Ser	Exon 3	dbSNP
FOXE3	c.587G>C	p.Gly196Ala	Exon 1	This study
	c.510C>T	p.(=)	Exon 1	dbSNP
FOXC1	c.1267G>T	p.Ala423Ser	Exon1	This study

Sequence variations within B3GALTL, CYP1B1, FOXE3, and FOXC1 found in patient 21,000 and/or his mother, father and sister. Human genomic sequences (GenBank): B3GALTL: NM_194318.3; CYP1B1:NM_000104.3; FOXC1:NM_001453.2; FOXE3:NM_012186.2. ^aNumbering based on Antonarakis and the Nomenclature Working Group (Antonarakis SE, 1998), where A of the initiator Met codon in exon 1 is denoted nucleotide +1 in the coding region. ^bPathological mutation found in patient 21,000. p.(=), no amino acid change.