| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.99608977G>T | CA123822 | MTTP | c.1769G>T (p.Ser590Ile) c.1520G>T (p.Ser507Ile) c.1850G>T (p.Ser617Ile) c.*216G>T (n.*216G>T) | ClinVar dbSNP gnomAD v4 |
| 4 | g.99608977G>A | CA357513625 | MTTP | c.1769G>A (p.Ser590Asn) c.1520G>A (p.Ser507Asn) c.1850G>A (p.Ser617Asn) c.*216G>A (n.*216G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.99608977G= | CA1480082466 | MTTP | c.1769G= (p.Ser590=) c.1520G= (p.Ser507=) c.1850G= (p.Ser617=) c.*216G= (n.*216G=) | dbSNP |