| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.99608827G>A | CA123820 | MTTP | c.1619G>A (p.Arg540His) c.1370G>A (p.Arg457His) c.1700G>A (p.Arg567His) c.*66G>A (n.*66G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.99608827G= | CA1480082415 | MTTP | c.1619G= (p.Arg540=) c.1370G= (p.Arg457=) c.1700G= (p.Arg567=) c.*66G= (n.*66G=) | dbSNP |