| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72821038A>G | CA253004 | TMC1 | c.1960A>G (p.Met654Val) c.*400A>G (n.*400A>G) c.1258-5831A>G (n.1258-5831A>G) c.1834A>G (p.Met612Val) n.2103A>G c.1522A>G (p.Met508Val) n.441A>G n.858A>G c.2548A>G (p.Met850Val) c.1963A>G (p.Met655Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.72821038A>C | CA373670339 | TMC1 | c.1960A>C (p.Met654Leu) c.*400A>C (n.*400A>C) c.1258-5831A>C (n.1258-5831A>C) c.1834A>C (p.Met612Leu) n.2103A>C c.1522A>C (p.Met508Leu) n.441A>C n.858A>C c.2548A>C (p.Met850Leu) c.1963A>C (p.Met655Leu) | dbSNP gnomAD v4 |