| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16079375G>T | CA7924154 | ABCC1 | c.2012G>T (p.Gly671Val) c.1886G>T (p.Gly629Val) c.1034G>T (p.Gly345Val) c.1707G>T n.252G>T c.1988G>T (p.Gly663Val) c.1919G>T (p.Gly640Val) c.2066G>T (p.Gly689Val) c.1940G>T (p.Gly647Val) c.1928G>T (p.Gly643Val) c.1802G>T (p.Gly601Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16079375G= | CA2210095472 | ABCC1 | c.2012G= (p.Gly671=) c.1886G= (p.Gly629=) c.1034G= (p.Gly345=) c.1707G= n.252G= c.1988G= (p.Gly663=) c.1919G= (p.Gly640=) c.2066G= (p.Gly689=) c.1940G= (p.Gly647=) c.1928G= (p.Gly643=) c.1802G= (p.Gly601=) | dbSNP |