| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40813728T>G | CA7485887 | ZFYVE19 | c.922T>G (p.Ser308Ala) c.1096T>G (p.Ser366Ala) c.1126T>G (p.Ser376Ala) n.2203T>G c.901T>G n.66T>G c.601T>G (p.Ser201Ala) c.850T>G (p.Ser284Ala) c.831T>G c.1057T>G (p.Ser353Ala) c.469T>G (p.Ser157Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40813728T>A | CA391768346 | ZFYVE19 | c.922T>A (p.Ser308Thr) c.1096T>A (p.Ser366Thr) c.1126T>A (p.Ser376Thr) n.2203T>A c.901T>A n.66T>A c.601T>A (p.Ser201Thr) c.850T>A (p.Ser284Thr) c.831T>A c.1057T>A (p.Ser353Thr) c.469T>A (p.Ser157Thr) | dbSNP |