| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.20656138G>A | CA661292 | DDOST | c.315C>T (p.Gly105=) c.366C>T (p.Gly122=) c.266-359C>T (n.266-359C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20656138G>T | CA416508100 | DDOST | c.315C>A (p.Gly105=) c.366C>A (p.Gly122=) c.266-359C>A (n.266-359C>A) | dbSNP gnomAD v4 |
| 1 | g.20656138G= | CA1139772866 | DDOST | c.315C= (p.Gly105=) c.366C= (p.Gly122=) c.266-359C= (n.266-359C=) | dbSNP |