Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.133256074G>A | CA5305773 | ABO | n.686C>T n.54-4922C>T c.28+19088C>T (n.28+19088C>T) n.668C>T c.654C>T (p.His218=) c.657C>T (p.His219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.133256074G>T | CA375685735 | ABO | n.686C>A n.54-4922C>A c.28+19088C>A (n.28+19088C>A) n.668C>A c.654C>A (p.His218Gln) c.657C>A (p.His219Gln) | dbSNP gnomAD v4 |
9 | g.133256074G= | CA1882580280 | ABO | n.686C= n.54-4922C= c.28+19088C= (n.28+19088C=) n.668C= c.654C= (p.His218=) c.657C= (p.His219=) | dbSNP dbSNP |
9 | g.133256074G>C | CA375685733 | ABO | n.686C>G n.54-4922C>G c.28+19088C>G (n.28+19088C>G) n.668C>G c.654C>G (p.His218Gln) c.657C>G (p.His219Gln) | dbSNP gnomAD v4 COSMIC |