| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21864874C>T | CA124452 | HSPG2 | c.4595G>A (p.Cys1532Tyr) c.4598G>A (p.Cys1533Tyr) c.5141G>A (p.Cys1714Tyr) c.5093G>A (p.Cys1698Tyr) c.5072G>A (p.Cys1691Tyr) c.5144G>A (p.Cys1715Tyr) c.4649G>A (p.Cys1550Tyr) c.4790G>A (p.Cys1597Tyr) c.4739G>A (p.Cys1580Tyr) c.4736G>A (p.Cys1579Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21864874C>G | CA338954171 | HSPG2 | c.4595G>C (p.Cys1532Ser) c.4598G>C (p.Cys1533Ser) c.5141G>C (p.Cys1714Ser) c.5093G>C (p.Cys1698Ser) c.5072G>C (p.Cys1691Ser) c.5144G>C (p.Cys1715Ser) c.4649G>C (p.Cys1550Ser) c.4790G>C (p.Cys1597Ser) c.4739G>C (p.Cys1580Ser) c.4736G>C (p.Cys1579Ser) | dbSNP |
| 1 | g.21864874C= | CA1141580626 | HSPG2 | c.4595G= (p.Cys1532=) c.4598G= (p.Cys1533=) c.5141G= (p.Cys1714=) c.5093G= (p.Cys1698=) c.5072G= (p.Cys1691=) c.5144G= (p.Cys1715=) c.4649G= (p.Cys1550=) c.4790G= (p.Cys1597=) c.4739G= (p.Cys1580=) c.4736G= (p.Cys1579=) | dbSNP |