| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.175160555G>A | CA343795290 | KIAA0040 | c.*159C>T (n.*159C>T) c.76C>T (p.Gln26Ter) | dbSNP gnomAD v4 |
| 1 | g.175160555G>T | CA10692446 | KIAA0040 | c.*159C>A (n.*159C>A) c.76C>A (p.Gln26Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.175160555G>C | CA343795291 | KIAA0040 | c.*159C>G (n.*159C>G) c.76C>G (p.Gln26Glu) | dbSNP |