| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7042968T>G | CA397795569 | SLC16A11 | c.308A>C (p.Asp103Ala) c.380A>C (p.Asp127Ala) n.639A>C c.665A>C (p.Asp222Ala) | dbSNP |
| 17 | g.7042968T>C | CA8335325 | SLC16A11 | c.308A>G (p.Asp103Gly) c.380A>G (p.Asp127Gly) n.639A>G c.665A>G (p.Asp222Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |