| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2326013G>C | CA394351660 | ABCA3 | c.316C>G (p.Arg106Gly) n.879C>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2326013G>A | CA394351658 | ABCA3 | c.316C>T (p.Arg106Ter) n.879C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.2326013G>T | CA493361435 | ABCA3 | c.316C>A (p.Arg106=) n.879C>A | dbSNP gnomAD v2 gnomAD v4 |