Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.72539240C>A | CA1793296754 | KCNB2 | c.-94+1355C>A (n.-94+1355C>A) n.468+1355C>A | dbSNP |
8 | g.72539240C>T | CA12895406 | KCNB2 | c.-94+1355C>T (n.-94+1355C>T) n.468+1355C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |