| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.150123142G>T | CA3507757 | PDGFRB | c.2083C>A (p.Arg695Ser) c.*1397C>A (n.*1397C>A) c.1891C>A (p.Arg631Ser) c.1600C>A (p.Arg534Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150123142G>A | CA211315 | PDGFRB | c.2083C>T (p.Arg695Cys) c.*1397C>T (n.*1397C>T) c.1891C>T (p.Arg631Cys) c.1600C>T (p.Arg534Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150123142G>C | CA361762995 | PDGFRB | c.2083C>G (p.Arg695Gly) c.*1397C>G (n.*1397C>G) c.1891C>G (p.Arg631Gly) c.1600C>G (p.Arg534Gly) | dbSNP gnomAD v4 |
| 5 | g.150123142G= | CA1590802605 | PDGFRB | c.2083C= (p.Arg695=) c.*1397C= (n.*1397C=) c.1891C= (p.Arg631=) c.1600C= (p.Arg534=) | dbSNP |