| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72751910A>T | CA5081724 | TMC1 | c.596A>T (p.Asn199Ile) c.158A>T (p.Asn53Ile) c.470A>T (p.Asn157Ile) n.636A>T n.894A>T c.1184A>T (p.Asn395Ile) c.599A>T (p.Asn200Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.72751910A>G | CA5081725 | TMC1 | c.596A>G (p.Asn199Ser) c.158A>G (p.Asn53Ser) c.470A>G (p.Asn157Ser) n.636A>G n.894A>G c.1184A>G (p.Asn395Ser) c.599A>G (p.Asn200Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |