| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99851058C>T | CA114753 | AGL | c.16C>T (p.Gln6Ter) c.-176C>T (n.-176C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99851058C>G | CA341323454 | AGL | c.16C>G (p.Gln6Glu) c.-176C>G (n.-176C>G) | dbSNP gnomAD v4 |
| 1 | g.99851058C= | CA1141373053 | AGL | c.16C= (p.Gln6=) c.-176C= (n.-176C=) | dbSNP |