| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2285499C>T | CA119212 | ABCA3 | c.3426G>A (p.Trp1142Ter) c.3252G>A (p.Trp1084Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2285499C>G | CA394316614 | ABCA3 | c.3426G>C (p.Trp1142Cys) c.3252G>C (p.Trp1084Cys) | dbSNP gnomAD v4 |
| 16 | g.2285499C= | CA2202149733 | ABCA3 | c.3426G= (p.Trp1142=) c.3252G= (p.Trp1084=) | dbSNP |