| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.25081706G>T | CA9793672 | VSX1 | c.391C>A (p.Arg131Ser) n.674C>A n.436C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.25081706G>A | CA408435919 | VSX1 | c.391C>T (p.Arg131Cys) n.674C>T n.436C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.25081706G= | CA2356697711 | VSX1 | c.391C= (p.Arg131=) n.674C= n.436C= | dbSNP |
| 20 | g.25081706G>C | CA408435921 | VSX1 | c.391C>G (p.Arg131Gly) n.674C>G n.436C>G | dbSNP gnomAD v4 |