| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.170998317G>A | CA019992 | SLC2A2 | c.1250C>T (p.Pro417Leu) c.*717C>T (n.*717C>T) c.893C>T (p.Pro298Leu) c.731C>T (p.Pro244Leu) c.1205C>T (p.Pro402Leu) c.1031C>T (p.Pro344Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.170998317G>C | CA87705019 | SLC2A2 | c.1250C>G (p.Pro417Arg) c.*717C>G (n.*717C>G) c.893C>G (p.Pro298Arg) c.731C>G (p.Pro244Arg) c.1205C>G (p.Pro402Arg) c.1031C>G (p.Pro344Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |