| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232794835A>C | CA251591 | GIGYF2 | c.1370A>C (p.Asn457Thr) c.716A>C (p.Asn239Thr) c.851A>C (p.Asn284Thr) c.626A>C (p.Asn209Thr) c.863A>C (p.Asn288Thr) c.1352A>C (p.Asn451Thr) c.1433A>C (p.Asn478Thr) c.1436A>C (p.Asn479Thr) c.1199A>C (p.Asn400Thr) n.1483A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232794835A>G | CA2170346 | GIGYF2 | c.1370A>G (p.Asn457Ser) c.716A>G (p.Asn239Ser) c.851A>G (p.Asn284Ser) c.626A>G (p.Asn209Ser) c.863A>G (p.Asn288Ser) c.1352A>G (p.Asn451Ser) c.1433A>G (p.Asn478Ser) c.1436A>G (p.Asn479Ser) c.1199A>G (p.Asn400Ser) n.1483A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |