Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18868764C>T | CA16620815 | CERS1,GDF1 | c.*1221G>A (n.*1221G>A) c.952G>A (p.Ala318Thr) c.*1813G>A (n.*1813G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18868764C>A | CA404862022 | CERS1,GDF1 | c.*1221G>T (n.*1221G>T) c.952G>T (p.Ala318Ser) c.*1813G>T (n.*1813G>T) | dbSNP gnomAD v3 gnomAD v4 |