| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72751938C>A | CA5081731 | TMC1 | c.624C>A (p.Ser208Arg) c.186C>A (p.Ser62Arg) c.498C>A (p.Ser166Arg) n.664C>A n.922C>A c.1212C>A (p.Ser404Arg) c.627C>A (p.Ser209Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.72751938C= | CA1855090130 | TMC1 | c.624C= (p.Ser208=) c.186C= (p.Ser62=) c.498C= (p.Ser166=) n.664C= n.922C= c.1212C= (p.Ser404=) c.627C= (p.Ser209=) | dbSNP |