| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.129822779G>A | CA5278718 | TOR1A | c.246C>T (p.Ala82=) c.342C>T (p.Ala114=) n.265C>T n.356C>T n.406C>T n.274C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.129822779G= | CA1630848033 | TOR1A | c.246C= (p.Ala82=) c.342C= (p.Ala114=) n.265C= n.356C= n.406C= n.274C= | dbSNP |
| 9 | g.129822779G>C | CA467366488 | TOR1A | c.246C>G (p.Ala82=) c.342C>G (p.Ala114=) n.265C>G n.356C>G n.406C>G n.274C>G | dbSNP gnomAD v4 |