Table 1 of
Aldave, Mol Vis 2005;
Table 1. Candidate gene sequence variants in SCCD patients
The c.754A>C change was identified in 17/104 control individuals (17/208 chromosomes) and the c.1024G>C change was identified in an unaffected member of Family 2.
Nucleotide Amino acid refSNP ID Gene change change (dbSNP build 123) ------- ---------- ---------- ----------------- CORT c.803C>T Ala129Ala rs628462 DFFA c.239T>G Leu61Leu rs1057017 GPR157 c.795C>T Arg218Leu None c.811C>T Ala223Val None H6PD c.754A>C Asp151Ala None c.938G>A Ala212Ala rs7524046 c.1043T>C Ala247Ala rs11121350 c.1660G>A Arg453Gln rs6688832 c.1963C>T Pro554Leu rs17368528 c.2321T>C Tyr673Tyr rs9434742 c.2420A>G Ser706Ser rs9434743 KIF1B c.1412G>A Thr409Thr rs17034660 c.3445A>G Tyr1087Cys rs2297881 c.4346A>G Pro1387Pro rs12125492 MGC4399 c.1024G>C Leu277Leu None PEX14 c.161T>C Phe52Phe rs12375 c.1037G>T Gly344Gly rs11539794 PGD c.822C>T Asp244Asp rs2229687 c.826G>A Asp246Asn rs2229688 PIK3CD c.3003T>C Tyr936Tyr rs11121484 SSBI c.686C>T Leu132Leu rs3795309