| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80110767C>A | CA401366928 | GAA | c.1478C>A (p.Pro493His) | dbSNP |
| 17 | g.80110767C>T | CA16608675 | GAA | c.1478C>T (p.Pro493Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80110767C>A | CA401366928 | GAA | c.1478C>A (p.Pro493His) | dbSNP |
| 17 | g.80110767C>T | CA16608675 | GAA | c.1478C>T (p.Pro493Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |