Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.87531302A>T | CA179696 | ABCB1 | c.2677T>A (p.Ser893Thr) n.319T>A n.305T>A c.2485T>A (p.Ser829Thr) c.2887T>A (p.Ser963Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87531302A>C | CA179699 | ABCB1 | c.2677T>G (p.Ser893Ala) n.319T>G n.305T>G c.2485T>G (p.Ser829Ala) c.2887T>G (p.Ser963Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |