| 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 |
| 17 | g.7042968T= | CA2245613231 | SLC16A11 | c.308A= (p.Asp103=) c.380A= (p.Asp127=) n.639A= c.665A= (p.Asp222=) | dbSNP |
| 17 | g.7042968T>A | CA397795561 | SLC16A11 | c.308A>T (p.Asp103Val) c.380A>T (p.Asp127Val) n.639A>T c.665A>T (p.Asp222Val) | dbSNP gnomAD v4 |