Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31595143T>G | CA402156935 | TTR | c.224T>G (p.Leu75Arg) c.128T>G (p.Leu43Arg) n.250T>G | ClinVar dbSNP |
18 | g.31595143T>C | CA256821 | TTR | c.224T>C (p.Leu75Pro) c.128T>C (p.Leu43Pro) n.250T>C | ClinVar dbSNP |
18 | g.31595143T= | CA2293887802 | TTR | c.224T= (p.Leu75=) c.128T= (p.Leu43=) n.250T= | dbSNP |