Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.67940400A>T | CA116421 | LCAT | c.827T>A (p.Met276Lys) c.156-326T>A c.611T>A (p.Met204Lys) c.565T>A (n.565T>A) | ClinVar dbSNP gnomAD v4 |
16 | g.67940400A>G | CA396376273 | LCAT | c.827T>C (p.Met276Thr) c.156-326T>C c.611T>C (p.Met204Thr) c.565T>C (n.565T>C) | dbSNP gnomAD v2 gnomAD v4 |