| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.38415899G>A | CA130219 | FGFR1 | c.1825C>T (p.Arg609Ter) c.1813C>T (p.Arg605Ter) n.2718C>T n.647C>T n.515C>T c.2005C>T (p.Arg669Ter) n.2513C>T c.1546C>T (p.Arg516Ter) c.*1471C>T (n.*1471C>T) c.*1792C>T (n.*1792C>T) n.3319C>T c.1552C>T (p.Arg518Ter) c.1795C>T (p.Arg599Ter) c.*875C>T (n.*875C>T) c.1558C>T (p.Arg520Ter) c.1819C>T (p.Arg607Ter) c.1918C>T (p.Arg640Ter) n.4104C>T n.1347C>T c.25C>T (p.Arg9Ter) n.371C>T c.*720C>T (n.*720C>T) c.1801C>T (p.Arg601Ter) c.1924C>T (p.Arg642Ter) c.1657C>T (p.Arg553Ter) c.1651C>T (p.Arg551Ter) c.1534C>T (p.Arg512Ter) c.1912C>T (p.Arg638Ter) c.1645C>T (p.Arg549Ter) c.853C>T (p.Arg285Ter) n.2073C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.38415899G>C | CA370731579 | FGFR1 | c.1825C>G (p.Arg609Gly) c.1813C>G (p.Arg605Gly) n.2718C>G n.647C>G n.515C>G c.2005C>G (p.Arg669Gly) n.2513C>G c.1546C>G (p.Arg516Gly) c.*1471C>G (n.*1471C>G) c.*1792C>G (n.*1792C>G) n.3319C>G c.1552C>G (p.Arg518Gly) c.1795C>G (p.Arg599Gly) c.*875C>G (n.*875C>G) c.1558C>G (p.Arg520Gly) c.1819C>G (p.Arg607Gly) c.1918C>G (p.Arg640Gly) n.4104C>G n.1347C>G c.25C>G (p.Arg9Gly) n.371C>G c.*720C>G (n.*720C>G) c.1801C>G (p.Arg601Gly) c.1924C>G (p.Arg642Gly) c.1657C>G (p.Arg553Gly) c.1651C>G (p.Arg551Gly) c.1534C>G (p.Arg512Gly) c.1912C>G (p.Arg638Gly) c.1645C>G (p.Arg549Gly) c.853C>G (p.Arg285Gly) n.2073C>G | ClinVar dbSNP gnomAD v4 |