| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.38414788C>T | CA460395805 | FGFR1 | c.1968G>A (p.Lys656=) c.1956G>A (p.Lys652=) n.2861G>A n.790G>A n.658G>A c.2148G>A (p.Lys716=) n.2656G>A c.1689G>A (p.Lys563=) c.*1614G>A (n.*1614G>A) c.*1935G>A (n.*1935G>A) n.3462G>A c.1695G>A (p.Lys565=) c.1938G>A (p.Lys646=) c.*1018G>A (n.*1018G>A) c.1701G>A (p.Lys567=) c.1962G>A (p.Lys654=) c.2061G>A (p.Lys687=) n.4247G>A n.1490G>A c.168G>A (p.Lys56=) n.514G>A c.*863G>A (n.*863G>A) c.1944G>A (p.Lys648=) c.2067G>A (p.Lys689=) c.1800G>A (p.Lys600=) c.1794G>A (p.Lys598=) c.1677G>A (p.Lys559=) c.2055G>A (p.Lys685=) c.1788G>A (p.Lys596=) c.996G>A (p.Lys332=) n.2241G>A | dbSNP gnomAD v2 |
| 8 | g.38414788C>G | CA16602863 | FGFR1 | c.1968G>C (p.Lys656Asn) c.1956G>C (p.Lys652Asn) n.2861G>C n.790G>C n.658G>C c.2148G>C (p.Lys716Asn) n.2656G>C c.1689G>C (p.Lys563Asn) c.*1614G>C (n.*1614G>C) c.*1935G>C (n.*1935G>C) n.3462G>C c.1695G>C (p.Lys565Asn) c.1938G>C (p.Lys646Asn) c.*1018G>C (n.*1018G>C) c.1701G>C (p.Lys567Asn) c.1962G>C (p.Lys654Asn) c.2061G>C (p.Lys687Asn) n.4247G>C n.1490G>C c.168G>C (p.Lys56Asn) n.514G>C c.*863G>C (n.*863G>C) c.1944G>C (p.Lys648Asn) c.2067G>C (p.Lys689Asn) c.1800G>C (p.Lys600Asn) c.1794G>C (p.Lys598Asn) c.1677G>C (p.Lys559Asn) c.2055G>C (p.Lys685Asn) c.1788G>C (p.Lys596Asn) c.996G>C (p.Lys332Asn) n.2241G>C | ClinVar dbSNP |