| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2299442T>C | CA119217 | ABCA3 | c.1702A>G (p.Asn568Asp) c.1528A>G (p.Asn510Asp) n.2265A>G | ClinVar dbSNP |
| 16 | g.2299442T>G | CA394334068 | ABCA3 | c.1702A>C (p.Asn568His) c.1528A>C (p.Asn510His) n.2265A>C | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2299442T= | CA2202158064 | ABCA3 | c.1702A= (p.Asn568=) c.1528A= (p.Asn510=) n.2265A= | dbSNP |