| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.215011442A>G | CA350483386 | ABCA12 | c.2329T>C (p.Ser777Pro) c.1375T>C (p.Ser459Pro) n.2573T>C n.2771T>C | dbSNP gnomAD v4 |
| 2 | g.215011442A>T | CA2091993 | ABCA12 | c.2329T>A (p.Ser777Thr) c.1375T>A (p.Ser459Thr) n.2573T>A n.2771T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.215011442A>C | CA350483385 | ABCA12 | c.2329T>G (p.Ser777Ala) c.1375T>G (p.Ser459Ala) n.2573T>G n.2771T>G | dbSNP |