| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.20369542G>C | CA7078298 | TEP1 | c.7458C>G (p.Ile2486Met) c.575C>G (p.Ser192Cys) c.427C>G c.5487C>G (p.Ile1829Met) c.*2878C>G (n.*2878C>G) c.7134C>G (p.Ile2378Met) c.5889C>G (p.Ile1963Met) n.8589C>G n.8626C>G n.7521C>G n.7484C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.20369542G>T | CA485159551 | TEP1 | c.7458C>A (p.Ile2486=) c.575C>A (p.Ser192Tyr) c.427C>A c.5487C>A (p.Ile1829=) c.*2878C>A (n.*2878C>A) c.7134C>A (p.Ile2378=) c.5889C>A (p.Ile1963=) n.8589C>A n.8626C>A n.7521C>A n.7484C>A | dbSNP gnomAD v2 gnomAD v4 |