Appendix 6 of
Sun, Mol Vis 2020; 26:588-602. Appendix 6 of
Sun, Mol Vis 2020; 26:588-602.
Appendix 6. Pathogenic variants in the six genes from previous literature except our cohort.
To access the data, click or select the words “Appendix 6.” Note: 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, NM_006204 of PDE6C, and NM_006205.3 of PDE6H.