| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.67942413A>G | CA116422 | LCAT | c.698T>C (p.Leu233Pro) c.155+448T>C c.46T>C (p.Leu16=) c.482T>C (p.Leu161Pro) c.341T>C (p.Leu114Pro) n.312T>C n.559T>C c.*393T>C (n.*393T>C) c.165T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.67942413A>T | CA396377941 | LCAT | c.698T>A (p.Leu233His) c.155+448T>A c.46T>A (p.Leu16Met) c.482T>A (p.Leu161His) c.341T>A (p.Leu114His) n.312T>A n.559T>A c.*393T>A (n.*393T>A) c.165T>A | dbSNP gnomAD v4 |
| 16 | g.67942413A= | CA2229564351 | LCAT | c.698T= (p.Leu233=) c.155+448T= c.46T= (p.Leu16=) c.482T= (p.Leu161=) c.341T= (p.Leu114=) n.312T= n.559T= c.*393T= (n.*393T=) c.165T= | dbSNP |