| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72789264C>G | CA373505007 | TMC1 | c.1171C>G (p.Gln391Glu) c.733C>G (p.Gln245Glu) c.1045C>G (p.Gln349Glu) n.1211C>G n.1469C>G c.1759C>G (p.Gln587Glu) c.1174C>G (p.Gln392Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.72789264C= | CA1855106337 | TMC1 | c.1171C= (p.Gln391=) c.733C= (p.Gln245=) c.1045C= (p.Gln349=) n.1211C= n.1469C= c.1759C= (p.Gln587=) c.1174C= (p.Gln392=) | dbSNP |