| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2498262del | CA319081 | TBC1D24 | c.1008del (p.His336GlnfsTer12) c.990del (p.His330GlnfsTer12) c.965+1149del (n.965+1149del) c.986del (p.Met329SerfsTer?) n.1190del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2498262T= | CA2202260716 | TBC1D24 | c.1008T= (p.His336=) c.990T= (p.His330=) c.965+1149T= (n.965+1149T=) c.986T= (p.Met329=) n.1190T= | dbSNP dbSNP |