| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.99583507T>C | CA123823 | MTTP | c.383T>C (p.Ile128Thr) c.134T>C (p.Ile45Thr) c.413T>C (p.Ile138Thr) c.464T>C (p.Ile155Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99583507T= | CA1480066755 | MTTP | c.383T= (p.Ile128=) c.134T= (p.Ile45=) c.413T= (p.Ile138=) c.464T= (p.Ile155=) | dbSNP |