| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39766006G>A | CA8535443 | IKZF3 | c.1314C>T (p.Ser438=) c.*648C>T (n.*648C>T) c.1080C>T (p.Ser360=) c.1197C>T (p.Ser399=) c.885C>T (p.Ser295=) c.912C>T (p.Ser304=) c.651C>T (p.Ser217=) c.1053C>T (p.Ser351=) c.768C>T (p.Ser256=) c.1029C>T (p.Ser343=) c.1095C>T (p.Ser365=) c.1146C>T (p.Ser382=) c.1212C>T (p.Ser404=) c.573C>T (p.Ser191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39766006G= | CA2259246030 | IKZF3 | c.1314C= (p.Ser438=) c.*648C= (n.*648C=) c.1080C= (p.Ser360=) c.1197C= (p.Ser399=) c.885C= (p.Ser295=) c.912C= (p.Ser304=) c.651C= (p.Ser217=) c.1053C= (p.Ser351=) c.768C= (p.Ser256=) c.1029C= (p.Ser343=) c.1095C= (p.Ser365=) c.1146C= (p.Ser382=) c.1212C= (p.Ser404=) c.573C= (p.Ser191=) | dbSNP |