| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72751903G>A | CA5081723 | TMC1 | c.589G>A (p.Gly197Arg) c.151G>A (p.Gly51Arg) c.463G>A (p.Gly155Arg) n.629G>A n.887G>A c.1177G>A (p.Gly393Arg) c.592G>A (p.Gly198Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.72751903G= | CA1855090113 | TMC1 | c.589G= (p.Gly197=) c.151G= (p.Gly51=) c.463G= (p.Gly155=) n.629G= n.887G= c.1177G= (p.Gly393=) c.592G= (p.Gly198=) | dbSNP |