Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31595170T>C | CA297739084 | TTR | c.251T>C (p.Phe84Ser) c.155T>C (p.Phe52Ser) n.277T>C | ClinVar dbSNP |
18 | g.31595170T= | CA2293887819 | TTR | c.251T= (p.Phe84=) c.155T= (p.Phe52=) n.277T= | dbSNP |
18 | g.31595170T>A | CA402156985 | TTR | c.251T>A (p.Phe84Tyr) c.155T>A (p.Phe52Tyr) n.277T>A | ClinVar dbSNP |