| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.36759781C>T | CA278021 | HLCS | c.2182G>A (p.Gly728Ser) c.1741G>A (p.Gly581Ser) n.2224G>A n.2198G>A c.1570G>A (p.Gly524Ser) n.2183G>A n.2022G>A n.2232G>A n.2041G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36759781C= | CA2388157933 | HLCS | c.2182G= (p.Gly728=) c.1741G= (p.Gly581=) n.2224G= n.2198G= c.1570G= (p.Gly524=) n.2183G= n.2022G= n.2232G= n.2041G= | dbSNP |