| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18869315G>A | CA404863344 | CERS1,GDF1 | c.*670C>T (n.*670C>T) c.401C>T (p.Ser134Leu) c.*1262C>T (n.*1262C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18869315G>C | CA16620817 | CERS1,GDF1 | c.*670C>G (n.*670C>G) c.401C>G (p.Ser134Trp) c.*1262C>G (n.*1262C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |