| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.42229127T>C | CA6965941 | DGKH | c.3602T>C (p.Val1201Ala) c.3471T>C (p.Cys1157=) n.3897T>C c.3242T>C (p.Val1081Ala) c.*2560T>C (n.*2560T>C) c.*209T>C (n.*209T>C) c.3194T>C (p.Val1065Ala) c.2736T>C (p.Cys912=) n.3428T>C n.4003T>C n.3412T>C n.3987T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.42229127T= | CA2087224990 | DGKH | c.3602T= (p.Val1201=) c.3471T= (p.Cys1157=) n.3897T= c.3242T= (p.Val1081=) c.*2560T= (n.*2560T=) c.*209T= (n.*209T=) c.3194T= (p.Val1065=) c.2736T= (p.Cys912=) n.3428T= n.4003T= n.3412T= n.3987T= | dbSNP |