| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21855402C>A | CA338936343 | HSPG2 | c.5899G>T (p.Val1967Phe) c.5902G>T (p.Val1968Phe) c.6445G>T (p.Val2149Phe) c.6397G>T (p.Val2133Phe) c.6376G>T (p.Val2126Phe) c.6448G>T (p.Val2150Phe) c.5953G>T (p.Val1985Phe) c.6094G>T (p.Val2032Phe) c.6043G>T (p.Val2015Phe) c.6040G>T (p.Val2014Phe) | dbSNP |
| 1 | g.21855402C>T | CA671754 | HSPG2 | c.5899G>A (p.Val1967Ile) c.5902G>A (p.Val1968Ile) c.6445G>A (p.Val2149Ile) c.6397G>A (p.Val2133Ile) c.6376G>A (p.Val2126Ile) c.6448G>A (p.Val2150Ile) c.5953G>A (p.Val1985Ile) c.6094G>A (p.Val2032Ile) c.6043G>A (p.Val2015Ile) c.6040G>A (p.Val2014Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |