| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69064991C>G | CA193393064 | FXN | c.213C>G (p.Asn71Lys) c.438C>G (p.Asn146Lys) c.384+11731C>G (n.384+11731C>G) c.165+29044C>G (n.165+29044C>G) c.436C>G c.*41C>G (n.*41C>G) c.*163C>G (n.*163C>G) c.130C>G | ClinVar dbSNP |
| 9 | g.69064991C>T | CA465233598 | FXN | c.213C>T (p.Asn71=) c.438C>T (p.Asn146=) c.384+11731C>T (n.384+11731C>T) c.165+29044C>T (n.165+29044C>T) c.436C>T c.*41C>T (n.*41C>T) c.*163C>T (n.*163C>T) c.130C>T | dbSNP gnomAD v4 |
| 9 | g.69064991C= | CA1854051895 | FXN | c.213C= (p.Asn71=) c.438C= (p.Asn146=) c.384+11731C= (n.384+11731C=) c.165+29044C= (n.165+29044C=) c.436C= c.*41C= (n.*41C=) c.*163C= (n.*163C=) c.130C= | dbSNP |