| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72694707del | CA10581505 | TMC1 | c.229del (p.Arg77GlufsTer16) c.-84del (n.-84del) c.229del (p.Arg77GlufsTer9) n.269del n.679del n.653del c.817del (p.Arg273GlufsTer16) c.232del (p.Arg78GlufsTer16) | ClinVar dbSNP |
| 9 | g.72694707A= | CA3165606900 | TMC1 | c.229A= (p.Arg77=) c.-84A= (n.-84A=) n.269A= n.679A= n.653A= c.817A= (p.Arg273=) c.232A= (p.Arg78=) | dbSNP dbSNP |