| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.48966341G>T | CA149683 | FTL | c.310G>T (p.Glu104Ter) c.820G>T (p.Glu274Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48966341G>C | CA309376503 | FTL | c.310G>C (p.Glu104Gln) c.820G>C (p.Glu274Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48966341G= | CA2340161750 | FTL | c.310G= (p.Glu104=) c.820G= (p.Glu274=) | dbSNP |
| 19 | g.48966341G>A | CA406756819 | FTL | c.310G>A (p.Glu104Lys) c.820G>A (p.Glu274Lys) | dbSNP gnomAD v4 |