Table 1.
Variants table
| Gene | Chromosome (GRCh37) | HGVS DNA reference | HGVS protein reference | Predicted effect | Previously reported | CADD score | dbSNP/dbVar ID | ClinVar ID |
|---|---|---|---|---|---|---|---|---|
| UBA5 | Chr 3:g.132389876 C > T | c.562C > T | p.Arg188* | Nonsense | Yes | 38 | rs374052333 | 265749 |
| UBA5 | Chr 3:g.132390970 T > C | c.761T > C | p.Leu254Pro | Missense | No | 31 | N/A | 1048516 |
| UBA5 | Chr 3:g.132394186 T > C | c.907T > C | p.Cys303Arg | Missense | No | 29.3 | rs1553770577 | 522846 |
| UBA5 | Chr 3:g.132394747 G > A | c.1111G > A | p.Ala371Thr | Missense | Yes | 27.6 | rs114925667 | 265745 |