| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.48965347C>G | CA2573054803 | FTL | c.-161C>G (n.-161C>G) c.350C>G (p.Thr117Arg) | ClinVar dbSNP |
| 19 | g.48965347C>T | CA126555 | FTL | c.-161C>T (n.-161C>T) c.350C>T (p.Thr117Ile) | ClinVar dbSNP gnomAD v4 |
| 19 | g.48965347C= | CA2340161168 | FTL | c.-161C= (n.-161C=) c.350C= (p.Thr117=) | dbSNP |