Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.16134392A>G | CA278660878 | ABCC1 | c.4039A>G (p.Thr1347Ala) c.4009A>G (p.Thr1337Ala) c.3832A>G (p.Thr1278Ala) n.735A>G c.3538A>G (p.Thr1180Ala) c.*1301A>G (n.*1301A>G) c.3061A>G (p.Thr1021Ala) c.3734A>G c.3985A>G (p.Thr1329Ala) c.3916A>G (p.Thr1306Ala) c.4063A>G (p.Thr1355Ala) c.3937A>G (p.Thr1313Ala) c.3925A>G (p.Thr1309Ala) c.3886A>G (p.Thr1296Ala) c.3799A>G (p.Thr1267Ala) c.3718A>G (p.Thr1240Ala) | dbSNP gnomAD v4 |
16 | g.16134392A= | CA2210121670 | ABCC1 | c.4039A= (p.Thr1347=) c.4009A= (p.Thr1337=) c.3832A= (p.Thr1278=) n.735A= c.3538A= (p.Thr1180=) c.*1301A= (n.*1301A=) c.3061A= (p.Thr1021=) c.3734A= c.3985A= (p.Thr1329=) c.3916A= (p.Thr1306=) c.4063A= (p.Thr1355=) c.3937A= (p.Thr1313=) c.3925A= (p.Thr1309=) c.3886A= (p.Thr1296=) c.3799A= (p.Thr1267=) c.3718A= (p.Thr1240=) | dbSNP |