| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.158646896A>G | CA210484 | GFM1,LXN | c.521A>G (p.Asn174Ser) n.9A>G c.362-687T>C c.296A>G (p.Asn99Ser) c.234+1115A>G (n.234+1115A>G) c.5+1115A>G (n.5+1115A>G) n.629A>G n.342+1115A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.158646896A= | CA1414369215 | GFM1,LXN | c.521A= (p.Asn174=) n.9A= c.362-687T= c.296A= (p.Asn99=) c.234+1115A= (n.234+1115A=) c.5+1115A= (n.5+1115A=) n.629A= n.342+1115A= | dbSNP |