| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80108605dup | CA16041890 | GAA | c.1192dup (p.Leu398ProfsTer?) | ClinVar dbSNP |
| 17 | g.80108605del | CA628018372 | GAA | c.1192del (p.Leu398TrpfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80108605dup | CA16041890 | GAA | c.1192dup (p.Leu398ProfsTer?) | ClinVar dbSNP |
| 17 | g.80108605del | CA628018372 | GAA | c.1192del (p.Leu398TrpfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |