| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.99758188del | CA4369456 | CYP3A4 | c.1554del (p.Lys518AsnfsTer5) n.896del c.1461del (p.Lys487AsnfsTer5) c.1002del (p.Lys334AsnfsTer5) c.1314del (p.Lys438AsnfsTer5) c.1011del (p.Lys337AsnfsTer5) c.1458del (p.Lys486AsnfsTer5) c.1551del (p.Lys517AsnfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.99758188dup | CA4369455 | CYP3A4 | c.1554dup (p.Pro519ThrfsTer7) n.896dup c.1461dup (p.Pro488ThrfsTer7) c.1002dup (p.Pro335ThrfsTer7) c.1314dup (p.Pro439ThrfsTer7) c.1011dup (p.Pro338ThrfsTer7) c.1458dup (p.Pro487ThrfsTer7) c.1551dup (p.Pro518ThrfsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |