| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.170999142G>A | CA019983 | SLC2A2 | c.1093C>T (p.Arg365Ter) c.*560C>T (n.*560C>T) c.736C>T (p.Arg246Ter) c.574C>T (p.Arg192Ter) c.1048C>T (p.Arg350Ter) c.874C>T (p.Arg292Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.170999142G>T | CA2702488 | SLC2A2 | c.1093C>A (p.Arg365=) c.*560C>A (n.*560C>A) c.736C>A (p.Arg246=) c.574C>A (p.Arg192=) c.1048C>A (p.Arg350=) c.874C>A (p.Arg292=) | dbSNP ExAC gnomAD v2 gnomAD v4 |