| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2498253G>T | CA347141 | TBC1D24 | c.999G>T (p.Leu333Phe) c.981G>T (p.Leu327Phe) c.965+1140G>T (n.965+1140G>T) c.977G>T (p.Trp326Leu) n.1181G>T | ClinVar dbSNP |
| 16 | g.2498253G= | CA2202260709 | TBC1D24 | c.999G= (p.Leu333=) c.981G= (p.Leu327=) c.965+1140G= (n.965+1140G=) c.977G= (p.Trp326=) n.1181G= | dbSNP |