| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127818220C>T | CA321073 | ENG | c.1040G>A (p.Arg347His) c.1586G>A (p.Arg529His) n.1378-91C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127818220C>A | CA374974470 | ENG | c.1040G>T (p.Arg347Leu) c.1586G>T (p.Arg529Leu) n.1378-91C>A | dbSNP gnomAD v4 |
| 9 | g.127818220C= | CA1879985814 | ENG | c.1040G= (p.Arg347=) c.1586G= (p.Arg529=) n.1378-91C= | dbSNP |