| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.111997424A>G | CA1831458 | MERTK | c.1552A>G (p.Ile518Val) c.1024A>G (p.Ile342Val) c.*1025A>G (n.*1025A>G) n.55A>G c.517A>G (p.Ile173Val) c.1363A>G (p.Ile455Val) c.337A>G (p.Ile113Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.111997424A>T | CA348231460 | MERTK | c.1552A>T (p.Ile518Phe) c.1024A>T (p.Ile342Phe) c.*1025A>T (n.*1025A>T) n.55A>T c.517A>T (p.Ile173Phe) c.1363A>T (p.Ile455Phe) c.337A>T (p.Ile113Phe) | dbSNP COSMIC |