| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89279756del | CA10583990 | ANKRD11 | c.6792del (p.Ala2265ProfsTer?) c.*6595del (n.*6595del) c.745-4559del (n.745-4559del) c.152-4559del c.6690del (p.Ala2231ProfsTer?) c.6495del (p.Ala2166ProfsTer?) c.6663del (p.Ala2222ProfsTer?) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.89279756dup | CA624452354 | ANKRD11 | c.6792dup (p.Ala2265ArgfsTer8) c.*6595dup (n.*6595dup) c.745-4559dup (n.745-4559dup) c.152-4559dup c.6690dup (p.Ala2231ArgfsTer8) c.6495dup (p.Ala2166ArgfsTer8) c.6663dup (p.Ala2222ArgfsTer8) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |