| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.99619094A>T | CA123821 | MTTP | c.2338A>T (p.Asn780Tyr) c.2089A>T (p.Asn697Tyr) c.2419A>T (p.Asn807Tyr) c.*785A>T (n.*785A>T) | ClinVar dbSNP |
| 4 | g.99619094A= | CA1480086513 | MTTP | c.2338A= (p.Asn780=) c.2089A= (p.Asn697=) c.2419A= (p.Asn807=) c.*785A= (n.*785A=) | dbSNP |