| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72805491G>A | CA10576754 | TMC1 | c.1676G>A (p.Trp559Ter) c.1238G>A (p.Trp413Ter) c.1550G>A (p.Trp517Ter) n.1819G>A n.300G>A c.2264G>A (p.Trp755Ter) c.1679G>A (p.Trp560Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.72805491G= | CA1855113578 | TMC1 | c.1676G= (p.Trp559=) c.1238G= (p.Trp413=) c.1550G= (p.Trp517=) n.1819G= n.300G= c.2264G= (p.Trp755=) c.1679G= (p.Trp560=) | dbSNP |