| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214978830C>T | CA252476 | ABCA12 | c.4951G>A (p.Gly1651Ser) c.3997G>A (p.Gly1333Ser) n.5251G>A c.4960G>A (p.Gly1654Ser) n.5449G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214978830C= | CA1327160313 | ABCA12 | c.4951G= (p.Gly1651=) c.3997G= (p.Gly1333=) n.5251G= c.4960G= (p.Gly1654=) n.5449G= | dbSNP |