| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21881369C>T | CA16617066 | HSPG2 | c.1788G>A (p.Trp596Ter) c.1791G>A (p.Trp597Ter) c.1839G>A (p.Trp613Ter) c.1842G>A (p.Trp614Ter) c.1983G>A (p.Trp661Ter) c.1932G>A (p.Trp644Ter) c.1929G>A (p.Trp643Ter) | ClinVar dbSNP gnomAD v2 |
| 1 | g.21881369C>A | CA338966258 | HSPG2 | c.1788G>T (p.Trp596Cys) c.1791G>T (p.Trp597Cys) c.1839G>T (p.Trp613Cys) c.1842G>T (p.Trp614Cys) c.1983G>T (p.Trp661Cys) c.1932G>T (p.Trp644Cys) c.1929G>T (p.Trp643Cys) | dbSNP gnomAD v4 |
| 1 | g.21881369C= | CA1158150385 | HSPG2 | c.1788G= (p.Trp596=) c.1791G= (p.Trp597=) c.1839G= (p.Trp613=) c.1842G= (p.Trp614=) c.1983G= (p.Trp661=) c.1932G= (p.Trp644=) c.1929G= (p.Trp643=) | dbSNP |