| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.137206981A>C | CA148231478 | IFNGR1 | c.152T>G (p.Val51Gly) c.182T>G (p.Val61Gly) c.59T>G (p.Val20Gly) c.*81T>G (n.*81T>G) c.128T>G (p.Val43Gly) c.98T>G (p.Val33Gly) c.125T>G (p.Val42Gly) c.302T>G (n.302T>G) c.291T>G n.304T>G | dbSNP |
| 6 | g.137206981A>T | CA127609 | IFNGR1 | c.152T>A (p.Val51Glu) c.182T>A (p.Val61Glu) c.59T>A (p.Val20Glu) c.*81T>A (n.*81T>A) c.128T>A (p.Val43Glu) c.98T>A (p.Val33Glu) c.125T>A (p.Val42Glu) c.302T>A (n.302T>A) c.291T>A n.304T>A | ClinVar dbSNP |
| 6 | g.137206981A>G | CA4019031 | IFNGR1 | c.152T>C (p.Val51Ala) c.182T>C (p.Val61Ala) c.59T>C (p.Val20Ala) c.*81T>C (n.*81T>C) c.128T>C (p.Val43Ala) c.98T>C (p.Val33Ala) c.125T>C (p.Val42Ala) c.302T>C (n.302T>C) c.291T>C n.304T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |