Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5517909G>C | CA1949723298 | HBG2,OLFM5P,UBQLNL | c.982+72916C>G (n.982+72916C>G) c.-2+401C>G (n.-2+401C>G) c.-565+72916C>G (n.-565+72916C>G) c.*113+401C>G (n.*113+401C>G) | dbSNP |
11 | g.5517909G>A | CA16408632 | HBG2,OLFM5P,UBQLNL | c.982+72916C>T (n.982+72916C>T) c.-2+401C>T (n.-2+401C>T) c.-565+72916C>T (n.-565+72916C>T) c.*113+401C>T (n.*113+401C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |