| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42322445G>C | CA170587 | STAT3 | c.1938C>G (p.Asn646Lys) c.*330C>G (n.*330C>G) c.1911C>G (p.Asn637Lys) n.1391C>G c.*326C>G (n.*326C>G) c.2034C>G (p.Asn678Lys) n.2138C>G c.1917C>G (p.Asn639Lys) c.1854C>G (p.Asn618Lys) c.1953C>G (p.Asn651Lys) n.2375C>G c.1842C>G (p.Asn614Lys) n.2355C>G n.2181C>G c.1644C>G (p.Asn548Lys) c.1860C>G (p.Asn620Lys) c.1878C>G (p.Asn626Lys) | ClinVar dbSNP |
| 17 | g.42322445G>A | CA500061098 | STAT3 | c.1938C>T (p.Asn646=) c.*330C>T (n.*330C>T) c.1911C>T (p.Asn637=) n.1391C>T c.*326C>T (n.*326C>T) c.2034C>T (p.Asn678=) n.2138C>T c.1917C>T (p.Asn639=) c.1854C>T (p.Asn618=) c.1953C>T (p.Asn651=) n.2375C>T c.1842C>T (p.Asn614=) n.2355C>T n.2181C>T c.1644C>T (p.Asn548=) c.1860C>T (p.Asn620=) c.1878C>T (p.Asn626=) | dbSNP gnomAD v2 gnomAD v4 |