Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31593026G>C | CA256845 | TTR | c.200G>C (p.Gly67Ala) c.104G>C (p.Gly35Ala) n.226G>C | ClinVar dbSNP |
18 | g.31593026G>A | CA402156882 | TTR | c.200G>A (p.Gly67Glu) c.104G>A (p.Gly35Glu) n.226G>A | ClinVar dbSNP COSMIC |
18 | g.31593026G>T | CA402156883 | TTR | c.200G>T (p.Gly67Val) c.104G>T (p.Gly35Val) n.226G>T | ClinVar dbSNP |