| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72789236C>T | CA193300338 | TMC1 | c.1143C>T (p.Tyr381=) c.705C>T (p.Tyr235=) c.1017C>T (p.Tyr339=) n.1183C>T n.1441C>T c.1731C>T (p.Tyr577=) c.1146C>T (p.Tyr382=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.72789236C>G | CA373504945 | TMC1 | c.1143C>G (p.Tyr381Ter) c.705C>G (p.Tyr235Ter) c.1017C>G (p.Tyr339Ter) n.1183C>G n.1441C>G c.1731C>G (p.Tyr577Ter) c.1146C>G (p.Tyr382Ter) | ClinVar dbSNP |
| 9 | g.72789236C>A | CA5081883 | TMC1 | c.1143C>A (p.Tyr381Ter) c.705C>A (p.Tyr235Ter) c.1017C>A (p.Tyr339Ter) n.1183C>A n.1441C>A c.1731C>A (p.Tyr577Ter) c.1146C>A (p.Tyr382Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |