| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2498332C>T | CA16044431 | TBC1D24 | c.1078C>T (p.Arg360Cys) c.1060C>T (p.Arg354Cys) c.965+1219C>T (n.965+1219C>T) c.11C>T c.*36C>T (n.*36C>T) n.1260C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.2498332C>G | CA394378797 | TBC1D24 | c.1078C>G (p.Arg360Gly) c.1060C>G (p.Arg354Gly) c.965+1219C>G (n.965+1219C>G) c.11C>G c.*36C>G (n.*36C>G) n.1260C>G | dbSNP gnomAD v2 |
| 16 | g.2498332C= | CA2202260750 | TBC1D24 | c.1078C= (p.Arg360=) c.1060C= (p.Arg354=) c.965+1219C= (n.965+1219C=) c.11C= c.*36C= (n.*36C=) n.1260C= | dbSNP dbSNP |