| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72751859G>C | CA373497491 | TMC1 | c.545G>C (p.Gly182Ala) c.107G>C (p.Gly36Ala) c.419G>C (p.Gly140Ala) n.585G>C n.843G>C c.1133G>C (p.Gly378Ala) c.548G>C (p.Gly183Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.72751859G>T | CA373497492 | TMC1 | c.545G>T (p.Gly182Val) c.107G>T (p.Gly36Val) c.419G>T (p.Gly140Val) n.585G>T n.843G>T c.1133G>T (p.Gly378Val) c.548G>T (p.Gly183Val) | ClinVar dbSNP gnomAD v4 |
| 9 | g.72751859G>A | CA5081718 | TMC1 | c.545G>A (p.Gly182Asp) c.107G>A (p.Gly36Asp) c.419G>A (p.Gly140Asp) n.585G>A n.843G>A c.1133G>A (p.Gly378Asp) c.548G>A (p.Gly183Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |