| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42322409C>A | CA399581949 | STAT3 | c.1974G>T (p.Lys658Asn) c.*366G>T (n.*366G>T) c.1947G>T (p.Lys649Asn) n.1427G>T c.*362G>T (n.*362G>T) c.2070G>T (p.Lys690Asn) n.2174G>T c.1953G>T (p.Lys651Asn) c.1890G>T (p.Lys630Asn) c.1989G>T (p.Lys663Asn) n.2411G>T c.1878G>T (p.Lys626Asn) n.2391G>T n.2217G>T c.1680G>T (p.Lys560Asn) c.1896G>T (p.Lys632Asn) c.1914G>T (p.Lys638Asn) | ClinVar dbSNP COSMIC |
| 17 | g.42322409C>G | CA170590 | STAT3 | c.1974G>C (p.Lys658Asn) c.*366G>C (n.*366G>C) c.1947G>C (p.Lys649Asn) n.1427G>C c.*362G>C (n.*362G>C) c.2070G>C (p.Lys690Asn) n.2174G>C c.1953G>C (p.Lys651Asn) c.1890G>C (p.Lys630Asn) c.1989G>C (p.Lys663Asn) n.2411G>C c.1878G>C (p.Lys626Asn) n.2391G>C n.2217G>C c.1680G>C (p.Lys560Asn) c.1896G>C (p.Lys632Asn) c.1914G>C (p.Lys638Asn) | ClinVar dbSNP |
| 17 | g.42322409C>T | CA500061082 | STAT3 | c.1974G>A (p.Lys658=) c.*366G>A (n.*366G>A) c.1947G>A (p.Lys649=) n.1427G>A c.*362G>A (n.*362G>A) c.2070G>A (p.Lys690=) n.2174G>A c.1953G>A (p.Lys651=) c.1890G>A (p.Lys630=) c.1989G>A (p.Lys663=) n.2411G>A c.1878G>A (p.Lys626=) n.2391G>A n.2217G>A c.1680G>A (p.Lys560=) c.1896G>A (p.Lys632=) c.1914G>A (p.Lys638=) | dbSNP gnomAD v4 |
| 17 | g.42322409C= | CA2260430732 | STAT3 | c.1974G= (p.Lys658=) c.*366G= (n.*366G=) c.1947G= (p.Lys649=) n.1427G= c.*362G= (n.*362G=) c.2070G= (p.Lys690=) n.2174G= c.1953G= (p.Lys651=) c.1890G= (p.Lys630=) c.1989G= (p.Lys663=) n.2411G= c.1878G= (p.Lys626=) n.2391G= n.2217G= c.1680G= (p.Lys560=) c.1896G= (p.Lys632=) c.1914G= (p.Lys638=) | dbSNP |