| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2500425dup | CA347142 | TBC1D24 | c.1442dup (p.His481GlnfsTer?) c.1460dup (p.His487GlnfsTer?) c.965+3312dup (n.965+3312dup) c.329dup c.*418dup (n.*418dup) n.1642dup | ClinVar dbSNP gnomAD v4 |
| 16 | g.2500425A= | CA3217641358 | TBC1D24 | c.1442A= (p.His481=) c.1460A= (p.His487=) c.965+3312A= (n.965+3312A=) c.329A= c.*418A= (n.*418A=) n.1642A= | dbSNP |