| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.60975763T>C | CA16042261 | TRMT5 | c.1156A>G (p.Met386Val) c.1240A>G (p.Met414Val) c.1237A>G (p.Met413Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.60975763T>G | CA389919298 | TRMT5 | c.1156A>C (p.Met386Leu) c.1240A>C (p.Met414Leu) c.1237A>C (p.Met413Leu) | dbSNP gnomAD v4 |
| 14 | g.60975763T= | CA2141037629 | TRMT5 | c.1156A= (p.Met386=) c.1240A= (p.Met414=) c.1237A= (p.Met413=) | dbSNP |