| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.241879243A>T | CA345460564 | EXO1 | c.2009A>T (p.Glu670Val) c.204A>T c.2006A>T (p.Glu669Val) c.1889A>T (p.Glu630Val) c.1046A>T (p.Glu349Val) n.2594A>T | dbSNP |
| 1 | g.241879243A>G | CA1481496 | EXO1 | c.2009A>G (p.Glu670Gly) c.204A>G c.2006A>G (p.Glu669Gly) c.1889A>G (p.Glu630Gly) c.1046A>G (p.Glu349Gly) n.2594A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.241879243A= | CA1139893399 | EXO1 | c.2009A= (p.Glu670=) c.204A= c.2006A= (p.Glu669=) c.1889A= (p.Glu630=) c.1046A= (p.Glu349=) n.2594A= | dbSNP |