| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18869345C>A | CA16608982 | CERS1,GDF1 | c.*640G>T (n.*640G>T) c.371G>T (p.Cys124Phe) c.*1232G>T (n.*1232G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18869345C>T | CA404863409 | CERS1,GDF1 | c.*640G>A (n.*640G>A) c.371G>A (p.Cys124Tyr) c.*1232G>A (n.*1232G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |