Table 4. Digenic cases related to ocultaneous albinism available in DIDA.
id | Gene A | Var. | Gene B | Var. | Cl. |
---|---|---|---|---|---|
dd029 | TYR | A490Cfs* | OCA2 | V443I/+ | CO |
20/R402Q | |||||
dd121 | TYR | R116*/+ | OCA2 | A481T/+ | TD |
‘Var’ refers to variants and ‘Cl’ to class, with ‘TD’ being the true digenic and ‘CO’ the composite class. For more information about dd029 and dd121, see Supplementary Table S5.