| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.99611156C>T | CA123818 | MTTP | c.1783C>T (p.Arg595Ter) c.1534C>T (p.Arg512Ter) c.1864C>T (p.Arg622Ter) c.*230C>T (n.*230C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99611156C= | CA1480083291 | MTTP | c.1783C= (p.Arg595=) c.1534C= (p.Arg512=) c.1864C= (p.Arg622=) c.*230C= (n.*230C=) | dbSNP |