| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.78997112T>A | CA294812355 | CANT1 | c.511A>T (p.Ile171Phe) c.350A>T (p.Asp117Val) n.955A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.78997112T>G | CA401308151 | CANT1 | c.511A>C (p.Ile171Leu) c.350A>C (p.Asp117Ala) n.955A>C | dbSNP |