| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.43511455G>C | CA406175476 | ETHE1 | c.487C>G (p.Arg163Gly) c.*50C>G (n.*50C>G) c.406C>G (p.Arg136Gly) c.118C>G (p.Arg40Gly) c.227-2591C>G (n.227-2591C>G) c.454C>G (p.Arg152Gly) c.193C>G (p.Arg65Gly) | ClinVar dbSNP |
| 19 | g.43511455G>A | CA115479 | ETHE1 | c.487C>T (p.Arg163Trp) c.*50C>T (n.*50C>T) c.406C>T (p.Arg136Trp) c.118C>T (p.Arg40Trp) c.227-2591C>T (n.227-2591C>T) c.454C>T (p.Arg152Trp) c.193C>T (p.Arg65Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |