Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.52772139C>T | CA207457452 | MBL2 | c.-9-495G>A (n.-9-495G>A) c.-24-480G>A (n.-24-480G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52772139C>A | CA207457451 | MBL2 | c.-9-495G>T (n.-9-495G>T) c.-24-480G>T (n.-24-480G>T) | dbSNP gnomAD v3 gnomAD v4 |