Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31598622C>T | CA503610908 | TTR | c.391C>T (p.Leu131=) c.295C>T (p.Leu99=) c.505C>T (p.Leu169=) c.376-9C>T (n.376-9C>T) | ClinVar dbSNP |
18 | g.31598622C>A | CA256804 | TTR | c.391C>A (p.Leu131Met) c.295C>A (p.Leu99Met) c.505C>A (p.Leu169Met) c.376-9C>A (n.376-9C>A) | ClinVar dbSNP |