Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31593019G>A | CA297736998 | TTR | c.193G>A (p.Ala65Thr) c.97G>A (p.Ala33Thr) n.219G>A | ClinVar dbSNP |
18 | g.31593019G>T | CA402156872 | TTR | c.193G>T (p.Ala65Ser) c.97G>T (p.Ala33Ser) n.219G>T | dbSNP |
18 | g.31593019G= | CA2293886862 | TTR | c.193G= (p.Ala65=) c.97G= (p.Ala33=) n.219G= | dbSNP |