| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.99622756G>T | CA123825 | MTTP | c.2593G>T (p.Gly865Ter) c.2344G>T (p.Gly782Ter) c.2674G>T (p.Gly892Ter) c.*1040G>T (n.*1040G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99622756G= | CA1480087971 | MTTP | c.2593G= (p.Gly865=) c.2344G= (p.Gly782=) c.2674G= (p.Gly892=) c.*1040G= (n.*1040G=) | dbSNP |