| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.235766204A>T | CA116465 | LYST | c.671T>A (p.Val224Asp) c.*1420T>A (n.*1420T>A) c.557+35T>A c.428T>A (p.Val143Asp) c.5996T>A (p.Val1999Asp) n.6512+35T>A c.5858T>A (p.Val1953Asp) c.3659T>A (p.Val1220Asp) c.5961+35T>A (n.5961+35T>A) c.5823+35T>A (n.5823+35T>A) n.6178T>A n.6143+35T>A | ClinVar dbSNP |
| 1 | g.235766204A>G | CA344947787 | LYST | c.671T>C (p.Val224Ala) c.*1420T>C (n.*1420T>C) c.557+35T>C c.428T>C (p.Val143Ala) c.5996T>C (p.Val1999Ala) n.6512+35T>C c.5858T>C (p.Val1953Ala) c.3659T>C (p.Val1220Ala) c.5961+35T>C (n.5961+35T>C) c.5823+35T>C (n.5823+35T>C) n.6178T>C n.6143+35T>C | dbSNP gnomAD v2 gnomAD v4 |