Table 2.
Chromosomal Coordinate | Gene | Nucleotide Change | Predicted Amino Acid Change | Zygosity | Comments |
---|---|---|---|---|---|
6:18,257,856 | CLN3 | c.209A>G | p.Glu70Gly | Heterozygous | Variant in 10 other WGSs |
18:46,010,727 | CTSD | c.1168T>C | p.Cys390Arg | Heterozygous | Variant in 10 other WGSs |
18:46,011,691 | CTSD | c.761A>C | p.Lys254Thr | Heterozygous | Variant in 13 other WGSs |
21:29,922,715 | TPP1 | c.1280C>T | p.Ala427Val | Heterozygous | Variant in 5 other WGSs |
22:30,574,637 | CLN5 | c.619C>T | p.Gln207* | Homozygous | Unique to affected WGS |