| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.18539345C>T | CA340919 | CACNB2,NSUN6 | c.1460C>T (p.Ser487Leu) c.1325C>T (p.Ser442Leu) c.1448C>T (p.Ser483Leu) c.1520C>T (p.Ser507Leu) c.1604C>T (p.Ser535Leu) c.1442C>T (p.Ser481Leu) c.1229C>T (p.Ser410Leu) c.1406C>T (p.Ser469Leu) c.*745C>T (n.*745C>T) c.1346C>T (p.Ser449Leu) c.*878C>T (n.*878C>T) c.1161C>T (n.1161C>T) c.*843C>T (n.*843C>T) c.1424C>T (p.Ser475Leu) c.*704C>T (n.*704C>T) c.1532C>T (p.Ser511Leu) c.854C>T (p.Ser285Leu) c.1439C>T (p.Ser480Leu) c.1308C>T (n.1308C>T) c.116C>T (p.Ser39Leu) c.689C>T (p.Ser230Leu) c.1367C>T (p.Ser456Leu) c.1490C>T (p.Ser497Leu) c.764C>T (p.Ser255Leu) c.1370C>T (p.Ser457Leu) n.2423+2724G>A n.1729C>T | ClinVar dbSNP gnomAD v4 |
| 10 | g.18539345C= | CA1894173143 | CACNB2,NSUN6 | c.1460C= (p.Ser487=) c.1325C= (p.Ser442=) c.1448C= (p.Ser483=) c.1520C= (p.Ser507=) c.1604C= (p.Ser535=) c.1442C= (p.Ser481=) c.1229C= (p.Ser410=) c.1406C= (p.Ser469=) c.*745C= (n.*745C=) c.1346C= (p.Ser449=) c.*878C= (n.*878C=) c.1161C= (n.1161C=) c.*843C= (n.*843C=) c.1424C= (p.Ser475=) c.*704C= (n.*704C=) c.1532C= (p.Ser511=) c.854C= (p.Ser285=) c.1439C= (p.Ser480=) c.1308C= (n.1308C=) c.116C= (p.Ser39=) c.689C= (p.Ser230=) c.1367C= (p.Ser456=) c.1490C= (p.Ser497=) c.764C= (p.Ser255=) c.1370C= (p.Ser457=) n.2423+2724G= n.1729C= | dbSNP |