| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.38945127T>G | CA398814947 | FBXO47 | c.626A>C (p.Gln209Pro) c.548A>C (p.Gln183Pro) c.455A>C (p.Gln152Pro) | dbSNP |
| 17 | g.38945127T>C | CA8527230 | FBXO47 | c.626A>G (p.Gln209Arg) c.548A>G (p.Gln183Arg) c.455A>G (p.Gln152Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.38945127T>A | CA398814946 | FBXO47 | c.626A>T (p.Gln209Leu) c.548A>T (p.Gln183Leu) c.455A>T (p.Gln152Leu) | dbSNP gnomAD v4 |