| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.48965508A>G | CA149681 | FTL | c.1A>G (p.Met1Val) c.511A>G (p.Met171Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48965508A>T | CA406755426 | FTL | c.1A>T (p.Met1Leu) c.511A>T (p.Met171Leu) | dbSNP gnomAD v4 |
| 19 | g.48965508A= | CA2340161301 | FTL | c.1A= (p.Met1=) c.511A= (p.Met171=) | dbSNP |