| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.171007171C>T | CA020020 | SLC2A2 | c.589G>A (p.Val197Ile) c.70G>A (p.Val24Ile) c.*56G>A (n.*56G>A) n.300G>A c.232G>A (p.Val78Ile) c.544G>A (p.Val182Ile) c.370G>A (p.Val124Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.171007171C>G | CA355490404 | SLC2A2 | c.589G>C (p.Val197Leu) c.70G>C (p.Val24Leu) c.*56G>C (n.*56G>C) n.300G>C c.232G>C (p.Val78Leu) c.544G>C (p.Val182Leu) c.370G>C (p.Val124Leu) | ClinVar dbSNP gnomAD v4 |