| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.186727258C>T | CA114357 | KNG1 | c.586C>T (p.Arg196Ter) c.564+1998C>T (n.564+1998C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.186727258C>G | CA355720878 | KNG1 | c.586C>G (p.Arg196Gly) c.564+1998C>G (n.564+1998C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.186727258C= | CA1427057067 | KNG1 | c.586C= (p.Arg196=) c.564+1998C= (n.564+1998C=) | dbSNP |