Appendix 1 of
Sun, Mol Vis 2020; 26:588-602. Appendix 1 of
Sun, Mol Vis 2020; 26:588-602.
Appendix 1. Rare variants in biallelic status in five of the six genes detected in the 119 probands with genetic eye diseases.
To access the data, click or select the words “Appendix 1.” Note: IVS, intron; D, damaging; B, benigh; P, possibly damaging; PHH2, Polyphen-2; /, not available. The nomenclature of variants were according to the reference sequence including NM_007348.3 of ATF6, NM_005272 of GNAT2, NM_001298 of CNGA3, NM_019098 of CNGB3, and NM_006204 of PDE6C.