| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21852751C>T | CA671459 | HSPG2 | c.6673G>A (p.Gly2225Ser) n.304+213G>A c.6676G>A (p.Gly2226Ser) c.7219G>A (p.Gly2407Ser) c.7171G>A (p.Gly2391Ser) c.7150G>A (p.Gly2384Ser) c.7222G>A (p.Gly2408Ser) c.7140+168G>A (n.7140+168G>A) c.6727G>A (p.Gly2243Ser) c.6868G>A (p.Gly2290Ser) c.6817G>A (p.Gly2273Ser) c.6814G>A (p.Gly2272Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21852751C= | CA1140583810 | HSPG2 | c.6673G= (p.Gly2225=) n.304+213G= c.6676G= (p.Gly2226=) c.7219G= (p.Gly2407=) c.7171G= (p.Gly2391=) c.7150G= (p.Gly2384=) c.7222G= (p.Gly2408=) c.7140+168G= (n.7140+168G=) c.6727G= (p.Gly2243=) c.6868G= (p.Gly2290=) c.6817G= (p.Gly2273=) c.6814G= (p.Gly2272=) | dbSNP |