Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.67940193G>T | CA283160725 | LCAT | c.1034C>A (p.Thr345Lys) c.156-119C>A c.772C>A (n.772C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940193G>A | CA116425 | LCAT | c.1034C>T (p.Thr345Met) c.156-119C>T c.772C>T (n.772C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940193G= | CA2229563250 | LCAT | c.1034C= (p.Thr345=) c.156-119C= c.772C= (n.772C=) | dbSNP |