| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.33426974C>A | CA124287 | IFNGR2 | c.494C>A (p.Thr165Asn) c.503C>A (p.Thr168Asn) c.560C>A (p.Thr187Asn) c.266C>A (p.Thr89Asn) c.*478C>A (n.*478C>A) c.*256C>A (n.*256C>A) c.578C>A (p.Thr193Asn) c.509C>A (p.Thr170Asn) | ClinVar dbSNP gnomAD v4 |
| 21 | g.33426974C= | CA2386671192 | IFNGR2 | c.494C= (p.Thr165=) c.503C= (p.Thr168=) c.560C= (p.Thr187=) c.266C= (p.Thr89=) c.*478C= (n.*478C=) c.*256C= (n.*256C=) c.578C= (p.Thr193=) c.509C= (p.Thr170=) | dbSNP |
| 21 | g.33426974C>G | CA410117734 | IFNGR2 | c.494C>G (p.Thr165Ser) c.503C>G (p.Thr168Ser) c.560C>G (p.Thr187Ser) c.266C>G (p.Thr89Ser) c.*478C>G (n.*478C>G) c.*256C>G (n.*256C>G) c.578C>G (p.Thr193Ser) c.509C>G (p.Thr170Ser) | dbSNP gnomAD v4 |
| 21 | g.33426974C>T | CA410117735 | IFNGR2 | c.494C>T (p.Thr165Ile) c.503C>T (p.Thr168Ile) c.560C>T (p.Thr187Ile) c.266C>T (p.Thr89Ile) c.*478C>T (n.*478C>T) c.*256C>T (n.*256C>T) c.578C>T (p.Thr193Ile) c.509C>T (p.Thr170Ile) | dbSNP gnomAD v4 |