Table 5 De novo variants identified in the cohort.
Clinical Diagnosis | Sex | Gene | RefSeq | Nucleotide change | Protein change | Variant zygosity | ACMG annotation‡ |
|---|---|---|---|---|---|---|---|
Ocular albinism | M | GPR143 | NM_000273 | c.101T>C | p.(Leu34Pro) | Hemizygous | Uncertain significance |
Retinitis pigmentosa | M | PRPF31 | NM_015629 | c.1145A>G | p.(Glu382Gly) | Heterozygous | Pathogenic |
Retinitis pigmentosa | F | PRPF8 | NM_006445 | c.6926A>G | p.(His2309Arg) | Heterozygous | Pathogenic |
Retinitis pigmentosa | F | PRPF8 | NM_006445 | c.6977dup | p.(Tyr2326*) | Heterozygous | Pathogenic |
Retinitis pigmentosa | F | RHO | NM_000539 | c.403C>T | p.(Arg135Trp) | Heterozygous | Pathogenic |
Retinitis pigmentosa | M | RPE65 | NM_000329 | c.1445A>T | p.(Asp482Val) | Compound heter. | Likely pathogenic |
Leber congenital amaurosis | M | RPGRIP1 | NM_020366 | c.86-3T>G | p.(?) | Compound heter. | Likely pathogenic |
Coffin-Siris syndrome | F | SMARCA4 | NM_001128849 | c.4297G>A | p.(Glu1433Lys) | Heterozygous | Uncertain significance |
Usher syndrome | F | TUBB4B | NM_006088 | c.1171C>T | p.(Arg391Cys) | Heterozygous | Uncertain significance |
