Table 2

Compound heterozygous mutations in RDH12 identified in patients affected with pserdocoloboma-like maculopathy

Case #Nucleotide variants*Amino acid change†MAF‡Clinical classification§Reference
Case 1c.505C>G
c.806C>G		p.(Arg169Gly)
p.(Ala269Gly)		0.000217
0.003592		LP, VUS
LP		 36 37
Case 2c.505C>G
c.806C>G		p.(Arg169Gly)
p.(Ala269Gly)		0.000217
0.003592		LP, VUS
LP		 36 37
Cases 3 and 4c.437T>A
c.806C>G		p.(Val146Asp)
p.(Ala269Gly)		0
0.003592		P, LP, VUS
LP		 37 38
Case 5c.164C>T
c.178G>A,		p.(Thr55Met)
p.(Ala60Thr)		0.000109
0.000109		LP
P		 17 39
Case 6c.505C>G
c.806C>G		p.(Arg169Gly)
p.(Ala269Gly)		0.000217
0.003592		LP, VUS
LP		 36 37
Case 7c.505C>G
c.806C>G		p.(Arg169Gly)
p.(Ala269Gly)		0.000217
0.003592		LP, VUS
LP		 36 37

  • *“NC_000014.9(NM_152443.3):” omitted in all variant nomenclature.

  • †“NM_152443.3(NP_689656.2):” omitted in all variant nomenclature.

  • ‡Minor allele frequency from East Asian, gnomAD v.3.040

  • §LOVD v.3.0.39

  • LOVD, Leiden Open Variation Database; LP, likely pathogenic; MAF, minor allele frequency; P, pathogenic; VUS, variant of unknown significance.