| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.48965344C>A | CA126556 | FTL | c.-164C>A (n.-164C>A) c.347C>A (p.Ser116Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.48965344C>T | CA149685 | FTL | c.-164C>T (n.-164C>T) c.347C>T (p.Ser116Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.48965344C= | CA2340161164 | FTL | c.-164C= (n.-164C=) c.347C= (p.Ser116=) | dbSNP |