| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.67942719G>T | CA496384181 | LCAT | c.475C>A (p.Arg159=) c.155+142C>A c.259C>A (p.Arg87=) c.118C>A (p.Arg40=) n.89C>A n.253C>A c.*170C>A (n.*170C>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.67942719G>A | CA116423 | LCAT | c.475C>T (p.Arg159Trp) c.155+142C>T c.259C>T (p.Arg87Trp) c.118C>T (p.Arg40Trp) n.89C>T n.253C>T c.*170C>T (n.*170C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |