| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21880742T>C | CA673246 | HSPG2 | c.1912A>G (p.Met638Val) c.1915A>G (p.Met639Val) c.1963A>G (p.Met655Val) c.1966A>G (p.Met656Val) c.2107A>G (p.Met703Val) c.2056A>G (p.Met686Val) c.2053A>G (p.Met685Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21880742T>G | CA338966001 | HSPG2 | c.1912A>C (p.Met638Leu) c.1915A>C (p.Met639Leu) c.1963A>C (p.Met655Leu) c.1966A>C (p.Met656Leu) c.2107A>C (p.Met703Leu) c.2056A>C (p.Met686Leu) c.2053A>C (p.Met685Leu) | dbSNP gnomAD v3 gnomAD v4 |