| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.38414569G>T | CA370729415 | FGFR1 | c.2038C>A (p.Gln680Lys) c.2026C>A (p.Gln676Lys) n.2931C>A n.1009C>A n.728C>A c.2218C>A (p.Gln740Lys) n.2726C>A c.1759C>A (p.Gln587Lys) c.*1684C>A (n.*1684C>A) c.*2005C>A (n.*2005C>A) n.3532C>A c.1765C>A (p.Gln589Lys) c.2008C>A (p.Gln670Lys) c.*1088C>A (n.*1088C>A) c.1771C>A (p.Gln591Lys) c.2032C>A (p.Gln678Lys) c.2131C>A (p.Gln711Lys) n.4317C>A c.238C>A (p.Gln80Lys) c.*933C>A (n.*933C>A) c.2014C>A (p.Gln672Lys) c.2137C>A (p.Gln713Lys) c.1870C>A (p.Gln624Lys) c.1864C>A (p.Gln622Lys) c.1747C>A (p.Gln583Lys) c.2125C>A (p.Gln709Lys) c.1858C>A (p.Gln620Lys) c.1066C>A (p.Gln356Lys) n.2311C>A | dbSNP |
| 8 | g.38414569G>C | CA370729413 | FGFR1 | c.2038C>G (p.Gln680Glu) c.2026C>G (p.Gln676Glu) n.2931C>G n.1009C>G n.728C>G c.2218C>G (p.Gln740Glu) n.2726C>G c.1759C>G (p.Gln587Glu) c.*1684C>G (n.*1684C>G) c.*2005C>G (n.*2005C>G) n.3532C>G c.1765C>G (p.Gln589Glu) c.2008C>G (p.Gln670Glu) c.*1088C>G (n.*1088C>G) c.1771C>G (p.Gln591Glu) c.2032C>G (p.Gln678Glu) c.2131C>G (p.Gln711Glu) n.4317C>G c.238C>G (p.Gln80Glu) c.*933C>G (n.*933C>G) c.2014C>G (p.Gln672Glu) c.2137C>G (p.Gln713Glu) c.1870C>G (p.Gln624Glu) c.1864C>G (p.Gln622Glu) c.1747C>G (p.Gln583Glu) c.2125C>G (p.Gln709Glu) c.1858C>G (p.Gln620Glu) c.1066C>G (p.Gln356Glu) n.2311C>G | dbSNP |
| 8 | g.38414569G>A | CA185879 | FGFR1 | c.2038C>T (p.Gln680Ter) c.2026C>T (p.Gln676Ter) n.2931C>T n.1009C>T n.728C>T c.2218C>T (p.Gln740Ter) n.2726C>T c.1759C>T (p.Gln587Ter) c.*1684C>T (n.*1684C>T) c.*2005C>T (n.*2005C>T) n.3532C>T c.1765C>T (p.Gln589Ter) c.2008C>T (p.Gln670Ter) c.*1088C>T (n.*1088C>T) c.1771C>T (p.Gln591Ter) c.2032C>T (p.Gln678Ter) c.2131C>T (p.Gln711Ter) n.4317C>T c.238C>T (p.Gln80Ter) c.*933C>T (n.*933C>T) c.2014C>T (p.Gln672Ter) c.2137C>T (p.Gln713Ter) c.1870C>T (p.Gln624Ter) c.1864C>T (p.Gln622Ter) c.1747C>T (p.Gln583Ter) c.2125C>T (p.Gln709Ter) c.1858C>T (p.Gln620Ter) c.1066C>T (p.Gln356Ter) n.2311C>T | ClinVar dbSNP |