Aldave, Mol Vis 2005; 11:713-716. Table 1.

Table 1 of Aldave, Mol Vis 2005; 11:713-716.

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

Aldave, Mol Vis 2005; 11:713-716 <http://www.molvis.org/molvis/v11/a84/>