| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.80172240A>T | CA341565 | FAH | n.796-774A>T c.698A>T (p.Asp233Val) n.2312A>T c.488A>T (p.Asp163Val) n.626A>T n.34A>T | ClinVar dbSNP |
| 15 | g.80172240A= | CA2190338439 | FAH | n.796-774A= c.698A= (p.Asp233=) n.2312A= c.488A= (p.Asp163=) n.626A= n.34A= | dbSNP |