| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16111468G>C | CA7924506 | ABCC1 | c.2995G>C (p.Ala999Pro) c.2965G>C (p.Ala989Pro) c.2788G>C (p.Ala930Pro) c.2494G>C (p.Ala832Pro) c.*257G>C (n.*257G>C) c.2017G>C (p.Ala673Pro) c.326G>C (n.326G>C) c.2690G>C n.442G>C c.2941G>C (p.Ala981Pro) c.2872G>C (p.Ala958Pro) c.3019G>C (p.Ala1007Pro) c.2893G>C (p.Ala965Pro) c.2881G>C (p.Ala961Pro) c.2842G>C (p.Ala948Pro) c.2755G>C (p.Ala919Pro) c.2674G>C (p.Ala892Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.16111468G>A | CA7924505 | ABCC1 | c.2995G>A (p.Ala999Thr) c.2965G>A (p.Ala989Thr) c.2788G>A (p.Ala930Thr) c.2494G>A (p.Ala832Thr) c.*257G>A (n.*257G>A) c.2017G>A (p.Ala673Thr) c.326G>A (n.326G>A) c.2690G>A n.442G>A c.2941G>A (p.Ala981Thr) c.2872G>A (p.Ala958Thr) c.3019G>A (p.Ala1007Thr) c.2893G>A (p.Ala965Thr) c.2881G>A (p.Ala961Thr) c.2842G>A (p.Ala948Thr) c.2755G>A (p.Ala919Thr) c.2674G>A (p.Ala892Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16111468G= | CA2210109454 | ABCC1 | c.2995G= (p.Ala999=) c.2965G= (p.Ala989=) c.2788G= (p.Ala930=) c.2494G= (p.Ala832=) c.*257G= (n.*257G=) c.2017G= (p.Ala673=) c.326G= (n.326G=) c.2690G= n.442G= c.2941G= (p.Ala981=) c.2872G= (p.Ala958=) c.3019G= (p.Ala1007=) c.2893G= (p.Ala965=) c.2881G= (p.Ala961=) c.2842G= (p.Ala948=) c.2755G= (p.Ala919=) c.2674G= (p.Ala892=) | dbSNP |