Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31595230T>G | CA256802 | TTR | c.311T>G (p.Ile104Ser) c.215T>G (p.Ile72Ser) n.337T>G | ClinVar dbSNP |
18 | g.31595230T>C | CA402157111 | TTR | c.311T>C (p.Ile104Thr) c.215T>C (p.Ile72Thr) n.337T>C | ClinVar dbSNP |
18 | g.31595230T>A | CA402157110 | TTR | c.311T>A (p.Ile104Asn) c.215T>A (p.Ile72Asn) n.337T>A | ClinVar dbSNP |
18 | g.31595230T= | CA2293887848 | TTR | c.311T= (p.Ile104=) c.215T= (p.Ile72=) n.337T= | dbSNP |