| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.17796838G>C | CA9983467 | C21orf91 | c.408C>G (p.Asp136Glu) n.629C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.17796838G>T | CA318517987 | C21orf91 | c.408C>A (p.Asp136Glu) n.629C>A | dbSNP |
| 21 | g.17796838G= | CA2379516517 | C21orf91 | c.408C= (p.Asp136=) n.629C= | dbSNP |