| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21865798G>A | CA210461 | HSPG2 | c.4233C>T (p.Tyr1411=) c.627C>T (p.Tyr209=) c.4236C>T (p.Tyr1412=) c.4779C>T (p.Tyr1593=) c.4731C>T (p.Tyr1577=) c.4710C>T (p.Tyr1570=) c.4782C>T (p.Tyr1594=) c.4287C>T (p.Tyr1429=) c.4428C>T (p.Tyr1476=) c.4377C>T (p.Tyr1459=) c.4374C>T (p.Tyr1458=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21865798G= | CA1148236142 | HSPG2 | c.4233C= (p.Tyr1411=) c.627C= (p.Tyr209=) c.4236C= (p.Tyr1412=) c.4779C= (p.Tyr1593=) c.4731C= (p.Tyr1577=) c.4710C= (p.Tyr1570=) c.4782C= (p.Tyr1594=) c.4287C= (p.Tyr1429=) c.4428C= (p.Tyr1476=) c.4377C= (p.Tyr1459=) c.4374C= (p.Tyr1458=) | dbSNP dbSNP |