| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.117301025T>C | CA145975831 | ROS1 | c.6664A>G (p.Lys2222Glu) c.6682A>G (p.Lys2228Glu) c.6667A>G (p.Lys2223Glu) c.6712A>G (p.Lys2238Glu) c.6709A>G (p.Lys2237Glu) c.6685A>G (p.Lys2229Glu) c.6670A>G (p.Lys2224Glu) c.6538A>G (p.Lys2180Glu) c.6599+7769A>G (n.6599+7769A>G) c.6643A>G (p.Lys2215Glu) c.6640A>G (p.Lys2214Glu) | dbSNP gnomAD v2 |
| 6 | g.117301025T>A | CA145975829 | ROS1 | c.6664A>T (p.Lys2222Ter) c.6682A>T (p.Lys2228Ter) c.6667A>T (p.Lys2223Ter) c.6712A>T (p.Lys2238Ter) c.6709A>T (p.Lys2237Ter) c.6685A>T (p.Lys2229Ter) c.6670A>T (p.Lys2224Ter) c.6538A>T (p.Lys2180Ter) c.6599+7769A>T (n.6599+7769A>T) c.6643A>T (p.Lys2215Ter) c.6640A>T (p.Lys2214Ter) | dbSNP gnomAD v4 |
| 6 | g.117301025T>G | CA3973962 | ROS1 | c.6664A>C (p.Lys2222Gln) c.6682A>C (p.Lys2228Gln) c.6667A>C (p.Lys2223Gln) c.6712A>C (p.Lys2238Gln) c.6709A>C (p.Lys2237Gln) c.6685A>C (p.Lys2229Gln) c.6670A>C (p.Lys2224Gln) c.6538A>C (p.Lys2180Gln) c.6599+7769A>C (n.6599+7769A>C) c.6643A>C (p.Lys2215Gln) c.6640A>C (p.Lys2214Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.117301025T= | CA1657618997 | ROS1 | c.6664A= (p.Lys2222=) c.6682A= (p.Lys2228=) c.6667A= (p.Lys2223=) c.6712A= (p.Lys2238=) c.6709A= (p.Lys2237=) c.6685A= (p.Lys2229=) c.6670A= (p.Lys2224=) c.6538A= (p.Lys2180=) c.6599+7769A= (n.6599+7769A=) c.6643A= (p.Lys2215=) c.6640A= (p.Lys2214=) | dbSNP |