Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31595160G>A | CA256839 | TTR | c.241G>A (p.Glu81Lys) c.145G>A (p.Glu49Lys) n.267G>A | ClinVar dbSNP gnomAD v4 |
18 | g.31595160G= | CA2293887814 | TTR | c.241G= (p.Glu81=) c.145G= (p.Glu49=) n.267G= | dbSNP |
18 | g.31595160G>C | CA402156961 | TTR | c.241G>C (p.Glu81Gln) c.145G>C (p.Glu49Gln) n.267G>C | dbSNP gnomAD v4 |