| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50192695G>A | CA10414156 | AKAP4 | c.2018C>T (p.Ala673Val) c.1991C>T (p.Ala664Val) n.2130C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192695G>C | CA10414155 | AKAP4 | c.2018C>G (p.Ala673Gly) c.1991C>G (p.Ala664Gly) n.2130C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192695G= | CA2428802811 | AKAP4 | c.2018C= (p.Ala673=) c.1991C= (p.Ala664=) n.2130C= | dbSNP |