| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.177234081T>A | CA16602901 | NFE2L2 | c.188A>T (p.Glu63Val) n.326A>T n.391A>T c.233A>T (p.Glu78Val) c.236A>T (p.Glu79Val) c.93+143A>T (n.93+143A>T) n.340A>T c.191A>T (p.Glu64Val) n.2379A>T n.308A>T c.197A>T (p.Glu66Val) c.374A>T (p.Glu125Val) n.376A>T n.319A>T c.63+173A>T (n.63+173A>T) c.7A>T (p.Arg3Ter) | ClinVar dbSNP COSMIC |
| 2 | g.177234081T>C | CA349380477 | NFE2L2 | c.188A>G (p.Glu63Gly) n.326A>G n.391A>G c.233A>G (p.Glu78Gly) c.236A>G (p.Glu79Gly) c.93+143A>G (n.93+143A>G) n.340A>G c.191A>G (p.Glu64Gly) n.2379A>G n.308A>G c.197A>G (p.Glu66Gly) c.374A>G (p.Glu125Gly) n.376A>G n.319A>G c.63+173A>G (n.63+173A>G) c.7A>G (p.Arg3Gly) | ClinVar dbSNP COSMIC |
| 2 | g.177234081T= | CA1309948223 | NFE2L2 | c.188A= (p.Glu63=) n.326A= n.391A= c.233A= (p.Glu78=) c.236A= (p.Glu79=) c.93+143A= (n.93+143A=) n.340A= c.191A= (p.Glu64=) n.2379A= n.308A= c.197A= (p.Glu66=) c.374A= (p.Glu125=) n.376A= n.319A= c.63+173A= (n.63+173A=) c.7A= (p.Arg3=) | dbSNP |