Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.117301070C>T | CA3973973 | ROS1 | c.6619G>A (p.Asp2207Asn) c.6637G>A (p.Asp2213Asn) c.6622G>A (p.Asp2208Asn) c.6667G>A (p.Asp2223Asn) c.6664G>A (p.Asp2222Asn) c.6640G>A (p.Asp2214Asn) c.6625G>A (p.Asp2209Asn) c.6493G>A (p.Asp2165Asn) c.6599+7724G>A (n.6599+7724G>A) c.6598G>A (p.Asp2200Asn) c.6595G>A (p.Asp2199Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.117301070C>A | CA365439758 | ROS1 | c.6619G>T (p.Asp2207Tyr) c.6637G>T (p.Asp2213Tyr) c.6622G>T (p.Asp2208Tyr) c.6667G>T (p.Asp2223Tyr) c.6664G>T (p.Asp2222Tyr) c.6640G>T (p.Asp2214Tyr) c.6625G>T (p.Asp2209Tyr) c.6493G>T (p.Asp2165Tyr) c.6599+7724G>T (n.6599+7724G>T) c.6598G>T (p.Asp2200Tyr) c.6595G>T (p.Asp2199Tyr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.117301070C>G | CA145975893 | ROS1 | c.6619G>C (p.Asp2207His) c.6637G>C (p.Asp2213His) c.6622G>C (p.Asp2208His) c.6667G>C (p.Asp2223His) c.6664G>C (p.Asp2222His) c.6640G>C (p.Asp2214His) c.6625G>C (p.Asp2209His) c.6493G>C (p.Asp2165His) c.6599+7724G>C (n.6599+7724G>C) c.6598G>C (p.Asp2200His) c.6595G>C (p.Asp2199His) | dbSNP |