Table 2 of
Mateo, Mol Vis 2012; 18:1301-1311. Table 2 of
Mateo, Mol Vis 2012; 18:1301-1311.
Table 2. Sequence variants identified.
| Gene | Exon | Variant | Amino acid residue | dbSNP reference number |
|---|---|---|---|---|
| ZDHHC21 | exon 6 | c.318 T>C | C106C | rs17215796 |
| FREM1 | exon 3 | c.-135C>G | N/A | |
| exon 5 | c.456 A>G | Q152Q | rs10961757 | |
| exon 21 | c.3634 G>T | A1212S | rs35870000 | |
| exon 26 | c.4785 C>T | A1595A | rs10733289 | |
| exon 26 | c.4791 T>C | D1597D | rs1032474 | |
| exon 27 | c.5004 C>A | I1668I | rs17219005 | |
| exon 31 | c.5556 A>G | G1853G | Not described | |
| exon 34 | c.5859 T>C | V1953V | rs4741426 |