| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.42187447G>T | CA4731353 | PLAT | c.490C>A (p.Arg164=) n.732C>A c.352C>A (p.Arg118=) c.253+1487C>A (n.253+1487C>A) c.364+459C>A (n.364+459C>A) c.153C>A n.710C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.42187447G>A | CA4731352 | PLAT | c.490C>T (p.Arg164Trp) n.732C>T c.352C>T (p.Arg118Trp) c.253+1487C>T (n.253+1487C>T) c.364+459C>T (n.364+459C>T) c.153C>T n.710C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |