| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.67942967G>T | CA116426 | LCAT | c.321C>A (p.Tyr107Ter) c.49C>A c.105C>A (p.Tyr35Ter) n.99C>A c.*16C>A (n.*16C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.67942967G>A | CA496384360 | LCAT | c.321C>T (p.Tyr107=) c.49C>T c.105C>T (p.Tyr35=) n.99C>T c.*16C>T (n.*16C>T) | dbSNP gnomAD v4 |