| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72791914T>A | CA273817 | TMC1 | c.1253T>A (p.Met418Lys) c.815T>A (p.Met272Lys) c.1127T>A (p.Met376Lys) n.1293T>A n.1551T>A c.1841T>A (p.Met614Lys) c.1256T>A (p.Met419Lys) | ClinVar dbSNP |
| 9 | g.72791914T= | CA1855107543 | TMC1 | c.1253T= (p.Met418=) c.815T= (p.Met272=) c.1127T= (p.Met376=) n.1293T= n.1551T= c.1841T= (p.Met614=) c.1256T= (p.Met419=) | dbSNP |