Molecular Vision: Minear, Mol Vis 2013; 19:2508-2516. Table 1

Table 1. Coding variants present in 47 African American FECD probands that have not been previously reported in FECD patients.

Variant name	Amino acid change	rs ID	Location within gene	Physical location*	Number of cases with variant	Flanking sequence	MAF AA (%)	MAF EA (%)
COL8A2 c.1330T>C	p.A441A	rs182708720	Exon 2	Chr 1: 36,563,959	2	GCTCC[T/C]GCCAC	0.88	0.01
COL8A2 c.1951G>A	p.Y648Y	n/a	Exon 2	Chr 1: 36,563,338	1	TCATC[G/A]TAGGT	0	0.01
SLC4A11 c.497A>G	p.N150S	rs34520315	Exon 4	Chr 20: 3,214,851	5	GGATA[A/G]CGTGC	4.24	0.02
SLC4A11 c.522C>T	p.R158R	rs35262978	Exon 4	Chr 20: 3,214,826	1	CGCCG[C/T]TTCGC	1.18	0
SLC4A11 c.1437G>A	p.T463T	rs6084312	Exon 11	Chr 20: 3,211,235	6	TGGAC[G/A]GGCCT	3.95	11.71
SLC4A11 c.2232G>A	p.H728H	n/a	Exon 16	Chr 20: 3,209,540	2	CGCAC[G/A]TGCAG	0.02	0
SLC4A11 c.2706C>T	p.D886D	rs76962118	Exon 19	Chr 20: 3,208,451	3	ATGGA[C/T]GCTGA	2.84	0
ZEB1 c.666T>C	p.S201S	rs79134358	Exon 5	Chr 10: 31,799,722	4	TTTAG[T/C]TGCTC	5.76	0
ZEB1 c.852T>C	p.S263S	rs143232269	Exon 6	Chr 10: 31,803,635	1	CACAG[T/C]GGTAA	0.48	0
ZEB1 c.1721A>G	p.K553R	rs35753967	Exon 7	Chr 10: 31,809,921	3	CCTAA[A/G]GCAGC	4.95	0
ZEB1 c.1738C>T	p.P559S	n/a	Exon 7	Chr 10: 31,809,938	1	AGCCT[C/T]CTCCA	–	–
ZEB1 c.2037C>G	p.N658K	rs151205909	Exon 7	Chr 10: 31,810,237	1	AAGAA[C/G]AATGA	0.48	0
ZEB1 c.2124A>C	p.P687P	rs34846414	Exon 7	Chr 10: 31,810,324	6	TCCCC[A/C]GTTTT	5.65	0.047
ZEB1 c.2623C>A	p.Q854K	rs139581793	Exon 7	Chr 10: 31,810,823	4	CAGTC[C/A]AAGAA	1.59	0

Variants are named based nucleotide affected in NM_005202.2 (COL8A2), NM_032034.3 (SLC4A11), or NM_030751.5 (ZEB1). Some sequencing was performed on the reverse (negative) strand, but the sequences presented in this table are on the forward (positive) strand. *Physical coordinates obtained from the February 2009 (GRCh37/hg19) assembly of the UCSC Genome Browser. Minor allele frequencies (MAF) obtained from the Exome Variant Server (EVS). n/a, not available; Chr, chromosome; AA, African American; EA, European American; –, variant not found in EVS database.