| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.9816961A>G | CA358114 | SBF2 | n.341T>C c.2420T>C (p.Val807Ala) n.393T>C c.3932T>C (p.Val1311Ala) c.*165T>C (n.*165T>C) c.3914T>C (p.Val1305Ala) c.3464T>C (p.Val1155Ala) c.3953T>C (p.Val1318Ala) c.3794T>C (p.Val1265Ala) c.64T>C n.1028T>C c.2561T>C (p.Val854Ala) c.3851T>C (p.Val1284Ala) c.3728T>C (p.Val1243Ala) n.776T>C c.3857T>C (p.Val1286Ala) c.604T>C n.377T>C c.3716T>C (p.Val1239Ala) c.3824T>C (p.Val1275Ala) c.3839T>C (p.Val1280Ala) c.3815T>C (p.Val1272Ala) n.4091T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.9816961A= | CA1951783206 | SBF2 | n.341T= c.2420T= (p.Val807=) n.393T= c.3932T= (p.Val1311=) c.*165T= (n.*165T=) c.3914T= (p.Val1305=) c.3464T= (p.Val1155=) c.3953T= (p.Val1318=) c.3794T= (p.Val1265=) c.64T= n.1028T= c.2561T= (p.Val854=) c.3851T= (p.Val1284=) c.3728T= (p.Val1243=) n.776T= c.3857T= (p.Val1286=) c.604T= n.377T= c.3716T= (p.Val1239=) c.3824T= (p.Val1275=) c.3839T= (p.Val1280=) c.3815T= (p.Val1272=) n.4091T= | dbSNP |