Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.29222362A>G | CA346462997 | ALK | c.3497T>C (p.Met1166Thr) c.724T>C n.374T>C c.293T>C (p.Met98Thr) c.377T>C (p.Met126Thr) c.191T>C (p.Met64Thr) c.2366T>C (p.Met789Thr) c.650T>C (p.Met217Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.29222362A>T | CA346463000 | ALK | c.3497T>A (p.Met1166Lys) c.724T>A n.374T>A c.293T>A (p.Met98Lys) c.377T>A (p.Met126Lys) c.191T>A (p.Met64Lys) c.2366T>A (p.Met789Lys) c.650T>A (p.Met217Lys) | dbSNP |
2 | g.29222362A>C | CA16603123 | ALK | c.3497T>G (p.Met1166Arg) c.724T>G n.374T>G c.293T>G (p.Met98Arg) c.377T>G (p.Met126Arg) c.191T>G (p.Met64Arg) c.2366T>G (p.Met789Arg) c.650T>G (p.Met217Arg) | ClinVar dbSNP COSMIC |