| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.99589746A>G | CA3021858 | MTTP | c.497A>G (p.Asn166Ser) c.248A>G (p.Asn83Ser) c.527A>G (p.Asn176Ser) c.578A>G (p.Asn193Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.99589746A= | CA1480072745 | MTTP | c.497A= (p.Asn166=) c.248A= (p.Asn83=) c.527A= (p.Asn176=) c.578A= (p.Asn193=) | dbSNP |