| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.9832290G>A | CA115865 | SBF2 | c.2290C>T (p.Arg764Ter) c.3586C>T (p.Arg1196Ter) c.3472C>T (p.Arg1158Ter) c.3193C>T (p.Arg1065Ter) c.3448C>T (p.Arg1150Ter) n.757C>T c.2480C>T (n.2480C>T) c.3580C>T (p.Arg1194Ter) c.2385C>T (n.2385C>T) c.3457C>T (p.Arg1153Ter) c.2415C>T (n.2415C>T) c.237C>T c.3445C>T (p.Arg1149Ter) n.3724C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.9832290G= | CA1951790249 | SBF2 | c.2290C= (p.Arg764=) c.3586C= (p.Arg1196=) c.3472C= (p.Arg1158=) c.3193C= (p.Arg1065=) c.3448C= (p.Arg1150=) n.757C= c.2480C= (n.2480C=) c.3580C= (p.Arg1194=) c.2385C= (n.2385C=) c.3457C= (p.Arg1153=) c.2415C= (n.2415C=) c.237C= c.3445C= (p.Arg1149=) n.3724C= | dbSNP |