| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.177234082C>T | CA16602900 | NFE2L2 | c.187G>A (p.Glu63Lys) n.325G>A n.390G>A c.232G>A (p.Glu78Lys) c.235G>A (p.Glu79Lys) c.93+142G>A (n.93+142G>A) n.339G>A c.190G>A (p.Glu64Lys) n.2378G>A n.307G>A c.196G>A (p.Glu66Lys) c.373G>A (p.Glu125Lys) n.375G>A n.318G>A c.63+172G>A (n.63+172G>A) c.6G>A (p.Lys2=) | ClinVar dbSNP COSMIC |
| 2 | g.177234082C>G | CA16602899 | NFE2L2 | c.187G>C (p.Glu63Gln) n.325G>C n.390G>C c.232G>C (p.Glu78Gln) c.235G>C (p.Glu79Gln) c.93+142G>C (n.93+142G>C) n.339G>C c.190G>C (p.Glu64Gln) n.2378G>C n.307G>C c.196G>C (p.Glu66Gln) c.373G>C (p.Glu125Gln) n.375G>C n.318G>C c.63+172G>C (n.63+172G>C) c.6G>C (p.Lys2Asn) | ClinVar dbSNP COSMIC |
| 2 | g.177234082C= | CA1309948232 | NFE2L2 | c.187G= (p.Glu63=) n.325G= n.390G= c.232G= (p.Glu78=) c.235G= (p.Glu79=) c.93+142G= (n.93+142G=) n.339G= c.190G= (p.Glu64=) n.2378G= n.307G= c.196G= (p.Glu66=) c.373G= (p.Glu125=) n.375G= n.318G= c.63+172G= (n.63+172G=) c.6G= (p.Lys2=) | dbSNP |
| 2 | g.177234082C>A | CA349380494 | NFE2L2 | c.187G>T (p.Glu63Ter) n.325G>T n.390G>T c.232G>T (p.Glu78Ter) c.235G>T (p.Glu79Ter) c.93+142G>T (n.93+142G>T) n.339G>T c.190G>T (p.Glu64Ter) n.2378G>T n.307G>T c.196G>T (p.Glu66Ter) c.373G>T (p.Glu125Ter) n.375G>T n.318G>T c.63+172G>T (n.63+172G>T) c.6G>T (p.Lys2Asn) | ClinVar dbSNP COSMIC |