| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.25123971T>A | CA199573 | SEPSECS | c.1466A>T (p.Asp489Val) c.*340A>T (n.*340A>T) n.2682A>T n.1758A>T n.2513A>T n.822A>T c.1721A>T (p.Asp574Val) c.*1264A>T (n.*1264A>T) c.*1167A>T (n.*1167A>T) c.1229A>T (p.Asp410Val) c.1286A>T (p.Asp429Val) c.1463A>T (p.Asp488Val) c.1433A>T (p.Asp478Val) c.1043A>T (p.Asp348Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 4 | g.25123971T>C | CA2877137 | SEPSECS | c.1466A>G (p.Asp489Gly) c.*340A>G (n.*340A>G) n.2682A>G n.1758A>G n.2513A>G n.822A>G c.1721A>G (p.Asp574Gly) c.*1264A>G (n.*1264A>G) c.*1167A>G (n.*1167A>G) c.1229A>G (p.Asp410Gly) c.1286A>G (p.Asp429Gly) c.1463A>G (p.Asp488Gly) c.1433A>G (p.Asp478Gly) c.1043A>G (p.Asp348Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |