| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.9832274T>C | CA358258 | SBF2 | c.2306A>G (p.His769Arg) c.3602A>G (p.His1201Arg) c.3488A>G (p.His1163Arg) c.3209A>G (p.His1070Arg) c.3464A>G (p.His1155Arg) n.773A>G c.2496A>G (n.2496A>G) c.3596A>G (p.His1199Arg) c.2401A>G (n.2401A>G) c.3473A>G (p.His1158Arg) c.2431A>G (n.2431A>G) c.253A>G c.3461A>G (p.His1154Arg) n.3740A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.9832274T= | CA1951790220 | SBF2 | c.2306A= (p.His769=) c.3602A= (p.His1201=) c.3488A= (p.His1163=) c.3209A= (p.His1070=) c.3464A= (p.His1155=) n.773A= c.2496A= (n.2496A=) c.3596A= (p.His1199=) c.2401A= (n.2401A=) c.3473A= (p.His1158=) c.2431A= (n.2431A=) c.253A= c.3461A= (p.His1154=) n.3740A= | dbSNP |