| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.96298451C>T | CA117115 | HSD17B3 | c.166G>A (p.Ala56Thr) n.975G>A n.636G>A c.2458G>A c.80G>A (p.Ser27Asn) c.-771G>A (n.-771G>A) n.2600G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.96298451C= | CA1865972900 | HSD17B3 | c.166G= (p.Ala56=) n.975G= n.636G= c.2458G= c.80G= (p.Ser27=) c.-771G= (n.-771G=) n.2600G= | dbSNP |