| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72754817C>T | CA261929 | TMC1 | c.674C>T (p.Pro225Leu) c.236C>T (p.Pro79Leu) c.548C>T (p.Pro183Leu) n.714C>T n.972C>T c.1262C>T (p.Pro421Leu) c.677C>T (p.Pro226Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.72754817C= | CA1855091426 | TMC1 | c.674C= (p.Pro225=) c.236C= (p.Pro79=) c.548C= (p.Pro183=) n.714C= n.972C= c.1262C= (p.Pro421=) c.677C= (p.Pro226=) | dbSNP |