| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108142500C>A | CA382508072 | ACAT1 | c.890C>A (p.Thr297Lys) n.985C>A c.620C>A (p.Thr207Lys) c.527C>A (p.Thr176Lys) c.*145C>A (n.*145C>A) c.575C>A (p.Thr192Lys) n.978C>A c.*363C>A (n.*363C>A) n.385C>A n.351C>A c.512C>A (p.Thr171Lys) c.593C>A (p.Thr198Lys) n.930C>A n.923C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108142500C>T | CA10603085 | ACAT1 | c.890C>T (p.Thr297Met) n.985C>T c.620C>T (p.Thr207Met) c.527C>T (p.Thr176Met) c.*145C>T (n.*145C>T) c.575C>T (p.Thr192Met) n.978C>T c.*363C>T (n.*363C>T) n.385C>T n.351C>T c.512C>T (p.Thr171Met) c.593C>T (p.Thr198Met) n.930C>T n.923C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.108142500C= | CA1998718690 | ACAT1 | c.890C= (p.Thr297=) n.985C= c.620C= (p.Thr207=) c.527C= (p.Thr176=) c.*145C= (n.*145C=) c.575C= (p.Thr192=) n.978C= c.*363C= (n.*363C=) n.385C= n.351C= c.512C= (p.Thr171=) c.593C= (p.Thr198=) n.930C= n.923C= | dbSNP |