| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18869231C>T | CA247596 | CERS1,GDF1 | c.*754G>A (n.*754G>A) c.485G>A (p.Gly162Asp) c.*1346G>A (n.*1346G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18869231C>A | CA404863180 | CERS1,GDF1 | c.*754G>T (n.*754G>T) c.485G>T (p.Gly162Val) c.*1346G>T (n.*1346G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |