| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.137198451A>G | CA4018822 | IFNGR1 | c.1020T>C (p.Ser340=) c.948T>C (p.Ser316=) c.927T>C (p.Ser309=) c.*148T>C (n.*148T>C) c.888T>C (p.Ser296=) c.*949T>C (n.*949T>C) c.996T>C (p.Ser332=) c.1050T>C (p.Ser350=) c.993T>C (p.Ser331=) c.1170T>C (n.1170T>C) c.1159T>C c.*221T>C (n.*221T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.137198451A>C | CA4018821 | IFNGR1 | c.1020T>G (p.Ser340=) c.948T>G (p.Ser316=) c.927T>G (p.Ser309=) c.*148T>G (n.*148T>G) c.888T>G (p.Ser296=) c.*949T>G (n.*949T>G) c.996T>G (p.Ser332=) c.1050T>G (p.Ser350=) c.993T>G (p.Ser331=) c.1170T>G (n.1170T>G) c.1159T>G c.*221T>G (n.*221T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.137198451A>T | CA452432899 | IFNGR1 | c.1020T>A (p.Ser340=) c.948T>A (p.Ser316=) c.927T>A (p.Ser309=) c.*148T>A (n.*148T>A) c.888T>A (p.Ser296=) c.*949T>A (n.*949T>A) c.996T>A (p.Ser332=) c.1050T>A (p.Ser350=) c.993T>A (p.Ser331=) c.1170T>A (n.1170T>A) c.1159T>A c.*221T>A (n.*221T>A) | dbSNP |
| 6 | g.137198451A= | CA2497029166 | IFNGR1 | c.1020T= (p.Ser340=) c.948T= (p.Ser316=) c.927T= (p.Ser309=) c.*148T= (n.*148T=) c.888T= (p.Ser296=) c.*949T= (n.*949T=) c.996T= (p.Ser332=) c.1050T= (p.Ser350=) c.993T= (p.Ser331=) c.1170T= (n.1170T=) c.1159T= c.*221T= (n.*221T=) | dbSNP |