| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.75356374A>G | CA3308759 | CERT1,HMGCR | c.1912A>G (p.Ile638Val) c.*553T>C (n.*553T>C) c.1841T>C (n.1841T>C) n.2749A>G c.*2461A>G (n.*2461A>G) c.1753A>G (p.Ile585Val) n.375A>G c.1972A>G (p.Ile658Val) c.1813A>G (p.Ile605Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.75356374A= | CA1556072244 | CERT1,HMGCR | c.1912A= (p.Ile638=) c.*553T= (n.*553T=) c.1841T= (n.1841T=) n.2749A= c.*2461A= (n.*2461A=) c.1753A= (p.Ile585=) n.375A= c.1972A= (p.Ile658=) c.1813A= (p.Ile605=) | dbSNP |