| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.78496859C>T | CA115771 | FRAS1 | c.9013C>T (p.Gln3005Ter) c.9007C>T (p.Gln3003Ter) c.8785C>T (p.Gln2929Ter) c.6712C>T (p.Gln2238Ter) c.3901C>T (p.Gln1301Ter) | ClinVar dbSNP gnomAD v4 |
| 4 | g.78496859C>G | CA357376613 | FRAS1 | c.9013C>G (p.Gln3005Glu) c.9007C>G (p.Gln3003Glu) c.8785C>G (p.Gln2929Glu) c.6712C>G (p.Gln2238Glu) c.3901C>G (p.Gln1301Glu) | dbSNP gnomAD v2 gnomAD v4 |