Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.12241640G>C | CA684603775 | LRP6 | c.449+2622C>G (n.449+2622C>G) c.-5+25041C>G (n.-5+25041C>G) c.43+2622C>G n.582+2622C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.12241640G>A | CA15742307 | LRP6 | c.449+2622C>T (n.449+2622C>T) c.-5+25041C>T (n.-5+25041C>T) c.43+2622C>T n.582+2622C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |