Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31595244G>A | CA402157140 | TTR | c.325G>A (p.Glu109Lys) c.229G>A (p.Glu77Lys) n.351G>A | ClinVar dbSNP gnomAD v4 |
18 | g.31595244G>C | CA256829 | TTR | c.325G>C (p.Glu109Gln) c.229G>C (p.Glu77Gln) n.351G>C | ClinVar dbSNP |
18 | g.31595244G= | CA2293887854 | TTR | c.325G= (p.Glu109=) c.229G= (p.Glu77=) n.351G= | dbSNP |