Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.133255929C>G | CA375685076 | ABO | n.831G>C n.54-4777G>C c.28+19233G>C (n.28+19233G>C) n.813G>C c.799G>C (p.Gly267Arg) c.802G>C (p.Gly268Arg) | dbSNP gnomAD v4 |
9 | g.133255929C>T | CA5305728 | ABO | n.831G>A n.54-4777G>A c.28+19233G>A (n.28+19233G>A) n.813G>A c.799G>A (p.Gly267Arg) c.802G>A (p.Gly268Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |