Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.230063651C>T | CA16081906 | GALNT2 | n.89+5573C>T c.12+5573C>T (n.12+5573C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.230063651C>G | CA1226392687 | GALNT2 | n.89+5573C>G c.12+5573C>G (n.12+5573C>G) | dbSNP |