| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7041768G>C | CA8335109 | SLC16A11 | c.1255C>G (p.Pro419Ala) c.*163C>G (n.*163C>G) c.1327C>G (p.Pro443Ala) c.1231C>G (p.Pro411Ala) n.818C>G c.1612C>G (p.Pro538Ala) c.844C>G (p.Pro282Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7041768G>T | CA8335108 | SLC16A11 | c.1255C>A (p.Pro419Thr) c.*163C>A (n.*163C>A) c.1327C>A (p.Pro443Thr) c.1231C>A (p.Pro411Thr) n.818C>A c.1612C>A (p.Pro538Thr) c.844C>A (p.Pro282Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |