| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.80168116C>T | CA273910 | FAH | n.595C>T n.565C>T c.520C>T (p.Arg174Ter) n.2147C>T c.310C>T (p.Arg104Ter) n.66C>T n.448C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.80168116C= | CA2190336526 | FAH | n.595C= n.565C= c.520C= (p.Arg174=) n.2147C= c.310C= (p.Arg104=) n.66C= n.448C= | dbSNP |