| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214990791C>T | CA252486 | ABCA12 | c.3535G>A (p.Gly1179Arg) c.2581G>A (p.Gly861Arg) n.3835G>A n.4033G>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.214990791C>A | CA350468557 | ABCA12 | c.3535G>T (p.Gly1179Ter) c.2581G>T (p.Gly861Ter) n.3835G>T n.4033G>T | ClinVar dbSNP |
| 2 | g.214990791C= | CA1327165354 | ABCA12 | c.3535G= (p.Gly1179=) c.2581G= (p.Gly861=) n.3835G= n.4033G= | dbSNP |