| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94464768A>G | CA7328030 | SERPINA9 | c.689T>C (p.Val230Ala) c.1043T>C (p.Val348Ala) c.749T>C (p.Val250Ala) c.743T>C (p.Val248Ala) c.989T>C (p.Val330Ala) c.596T>C (p.Val199Ala) c.*519T>C (n.*519T>C) c.935T>C (p.Val312Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94464768A>T | CA390866667 | SERPINA9 | c.689T>A (p.Val230Asp) c.1043T>A (p.Val348Asp) c.749T>A (p.Val250Asp) c.743T>A (p.Val248Asp) c.989T>A (p.Val330Asp) c.596T>A (p.Val199Asp) c.*519T>A (n.*519T>A) c.935T>A (p.Val312Asp) | dbSNP gnomAD v4 |