| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214966945A>C | CA2091099 | ABCA12 | c.5787T>G (p.Tyr1929Ter) c.4833T>G (p.Tyr1611Ter) n.6087T>G c.5796T>G (p.Tyr1932Ter) n.6285T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214966945A= | CA1327155416 | ABCA12 | c.5787T= (p.Tyr1929=) c.4833T= (p.Tyr1611=) n.6087T= c.5796T= (p.Tyr1932=) n.6285T= | dbSNP |