| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.48965596C>A | CA406755839 | FTL | c.89C>A (p.Thr30Asn) c.599C>A (p.Thr200Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48965596C>T | CA130378 | FTL | c.89C>T (p.Thr30Ile) c.599C>T (p.Thr200Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48965596C= | CA2340161343 | FTL | c.89C= (p.Thr30=) c.599C= (p.Thr200=) | dbSNP |