| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.111994351G>C | CA348230031 | MERTK | c.1397G>C (p.Arg466Thr) c.869G>C (p.Arg290Thr) c.*870G>C (n.*870G>C) c.182G>C (p.Arg61Thr) c.1208G>C (p.Arg403Thr) | dbSNP gnomAD v4 |
| 2 | g.111994351G>A | CA1831374 | MERTK | c.1397G>A (p.Arg466Lys) c.869G>A (p.Arg290Lys) c.*870G>A (n.*870G>A) c.182G>A (p.Arg61Lys) c.1208G>A (p.Arg403Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |