Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21010033G>T | CA346000560 | APOB | c.6835C>A (p.Gln2279Lys) c.5869+700C>A (n.5869+700C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010033G>A | CA022898 | APOB | c.6835C>T (p.Gln2279Ter) c.5869+700C>T (n.5869+700C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.21010033G>C | CA346000558 | APOB | c.6835C>G (p.Gln2279Glu) c.5869+700C>G (n.5869+700C>G) | dbSNP |
2 | g.21010033G= | CA2493476522 | APOB | c.6835C= (p.Gln2279=) c.5869+700C= (n.5869+700C=) | dbSNP |