Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31595152T>G | CA256814 | TTR | c.233T>G (p.Leu78Arg) c.137T>G (p.Leu46Arg) n.259T>G | ClinVar dbSNP |
18 | g.31595152T>A | CA256796 | TTR | c.233T>A (p.Leu78His) c.137T>A (p.Leu46His) n.259T>A | ClinVar dbSNP |
18 | g.31595152T= | CA2293887809 | TTR | c.233T= (p.Leu78=) c.137T= (p.Leu46=) n.259T= | dbSNP |