| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18328782G>A | CA170988 | SHMT1 | c.1420C>T (p.Leu474Phe) c.1006C>T (p.Leu336Phe) c.1303C>T (p.Leu435Phe) n.1743C>T c.*917C>T (n.*917C>T) c.1180C>T (p.Leu394Phe) c.889C>T (p.Leu297Phe) c.766C>T (p.Leu256Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18328782G>T | CA398629239 | SHMT1 | c.1420C>A (p.Leu474Ile) c.1006C>A (p.Leu336Ile) c.1303C>A (p.Leu435Ile) n.1743C>A c.*917C>A (n.*917C>A) c.1180C>A (p.Leu394Ile) c.889C>A (p.Leu297Ile) c.766C>A (p.Leu256Ile) | dbSNP gnomAD v4 |