| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31598617C>T | CA123109 | TTR | c.386C>T (p.Ala129Val) c.290C>T (p.Ala97Val) c.500C>T (p.Ala167Val) c.375+11C>T (n.375+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31598617C= | CA2293889355 | TTR | c.386C= (p.Ala129=) c.290C= (p.Ala97=) c.500C= (p.Ala167=) c.375+11C= (n.375+11C=) | dbSNP |