| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11791216C>T | CA116323 | MTHFR | c.1866G>A (p.Met622Ile) c.1743G>A (p.Met581Ile) c.1863G>A (p.Met621Ile) c.*202G>A (n.*202G>A) c.*1255G>A (n.*1255G>A) n.2112G>A n.2260G>A c.1008G>A (p.Met336Ile) c.1497G>A (p.Met499Ile) n.2844G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11791216C= | CA1140616140 | MTHFR | c.1866G= (p.Met622=) c.1743G= (p.Met581=) c.1863G= (p.Met621=) c.*202G= (n.*202G=) c.*1255G= (n.*1255G=) n.2112G= n.2260G= c.1008G= (p.Met336=) c.1497G= (p.Met499=) n.2844G= | dbSNP |