| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.150120925T>A | CA16609704 | PDGFRB | c.2549A>T (p.Asp850Val) n.463A>T c.*1863A>T (n.*1863A>T) c.2357A>T (p.Asp786Val) c.2066A>T (p.Asp689Val) | ClinVar dbSNP |
| 5 | g.150120925T>C | CA361760167 | PDGFRB | c.2549A>G (p.Asp850Gly) n.463A>G c.*1863A>G (n.*1863A>G) c.2357A>G (p.Asp786Gly) c.2066A>G (p.Asp689Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |