| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.48966317G>A | CA281022 | FTL | c.286G>A (p.Ala96Thr) c.796G>A (p.Ala266Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966317G>T | CA406756731 | FTL | c.286G>T (p.Ala96Ser) c.796G>T (p.Ala266Ser) | dbSNP gnomAD v4 |
| 19 | g.48966317G= | CA2340161736 | FTL | c.286G= (p.Ala96=) c.796G= (p.Ala266=) | dbSNP |