Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.87403160G>C | CA10605749 | ABCB4 | c.3608C>G (p.Ser1203Ter) c.3629C>G (p.Ser1210Ter) c.3467C>G (p.Ser1156Ter) c.42C>G n.220C>G c.3524C>G (p.Ser1175Ter) c.3500C>G (p.Ser1167Ter) c.3488C>G (p.Ser1163Ter) c.3650C>G (p.Ser1217Ter) c.2969C>G (p.Ser990Ter) c.3899C>G (p.Ser1300Ter) c.3878C>G (p.Ser1293Ter) c.3794C>G (p.Ser1265Ter) c.3770C>G (p.Ser1257Ter) c.3758C>G (p.Ser1253Ter) c.3737C>G (p.Ser1246Ter) n.4137C>G | ClinVar dbSNP |
7 | g.87403160G>A | CA4326731 | ABCB4 | c.3608C>T (p.Ser1203Leu) c.3629C>T (p.Ser1210Leu) c.3467C>T (p.Ser1156Leu) c.42C>T n.220C>T c.3524C>T (p.Ser1175Leu) c.3500C>T (p.Ser1167Leu) c.3488C>T (p.Ser1163Leu) c.3650C>T (p.Ser1217Leu) c.2969C>T (p.Ser990Leu) c.3899C>T (p.Ser1300Leu) c.3878C>T (p.Ser1293Leu) c.3794C>T (p.Ser1265Leu) c.3770C>T (p.Ser1257Leu) c.3758C>T (p.Ser1253Leu) c.3737C>T (p.Ser1246Leu) n.4137C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |