| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.9847015G>A | CA115862 | SBF2 | c.1579C>T (p.Gln527Ter) c.2875C>T (p.Gln959Ter) c.2761C>T (p.Gln921Ter) c.2482C>T (p.Gln828Ter) c.2737C>T (p.Gln913Ter) c.2869C>T (p.Gln957Ter) c.2746C>T (p.Gln916Ter) n.2790C>T c.2734C>T (p.Gln912Ter) n.135+7739G>A n.3013C>T | ClinVar dbSNP |
| 11 | g.9847015G= | CA1951806907 | SBF2 | c.1579C= (p.Gln527=) c.2875C= (p.Gln959=) c.2761C= (p.Gln921=) c.2482C= (p.Gln828=) c.2737C= (p.Gln913=) c.2869C= (p.Gln957=) c.2746C= (p.Gln916=) n.2790C= c.2734C= (p.Gln912=) n.135+7739G= n.3013C= | dbSNP |