Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.20862794G>ACA384092200SLCO1B3,SLCO1B3-SLCO1B7c.667G>A (p.Gly223Ser)
c.359+4223G>A (n.359+4223G>A)
c.139G>A (p.Gly47Ser)
c.583G>A (p.Gly195Ser)
12g.20862794G>CCA384092202SLCO1B3,SLCO1B3-SLCO1B7c.667G>C (p.Gly223Arg)
c.359+4223G>C (n.359+4223G>C)
c.139G>C (p.Gly47Arg)
c.583G>C (p.Gly195Arg)
12g.20862794G>TCA384092204SLCO1B3,SLCO1B3-SLCO1B7c.667G>T (p.Gly223Cys)
c.359+4223G>T (n.359+4223G>T)
c.139G>T (p.Gly47Cys)
c.583G>T (p.Gly195Cys)
12g.20862795delCA2575095616SLCO1B3,SLCO1B3-SLCO1B7c.668del (p.Gly223AlafsTer18)
c.359+4224del (n.359+4224del)
c.140del (p.Gly47AlafsTer18)
c.584del (p.Gly195AlafsTer18)
 gnomAD v4
12g.20862795G>ACA384092205SLCO1B3,SLCO1B3-SLCO1B7c.668G>A (p.Gly223Asp)
c.359+4224G>A (n.359+4224G>A)
c.140G>A (p.Gly47Asp)
c.584G>A (p.Gly195Asp)
 gnomAD v4
12g.20862795G>CCA384092207SLCO1B3,SLCO1B3-SLCO1B7c.668G>C (p.Gly223Ala)
c.359+4224G>C (n.359+4224G>C)
c.140G>C (p.Gly47Ala)
c.584G>C (p.Gly195Ala)
 gnomAD v4
12g.20862795G>TCA384092209SLCO1B3,SLCO1B3-SLCO1B7c.668G>T (p.Gly223Val)
c.359+4224G>T (n.359+4224G>T)
c.140G>T (p.Gly47Val)
c.584G>T (p.Gly195Val)
12g.20862796C>ACA478855001SLCO1B3,SLCO1B3-SLCO1B7c.669C>A (p.Gly223=)
c.359+4225C>A (n.359+4225C>A)
c.141C>A (p.Gly47=)
c.585C>A (p.Gly195=)
12g.20862796C>GCA478855002SLCO1B3,SLCO1B3-SLCO1B7c.669C>G (p.Gly223=)
c.359+4225C>G (n.359+4225C>G)
c.141C>G (p.Gly47=)
c.585C>G (p.Gly195=)
12g.20862796C>TCA478855003SLCO1B3,SLCO1B3-SLCO1B7c.669C>T (p.Gly223=)
c.359+4225C>T (n.359+4225C>T)
c.141C>T (p.Gly47=)
c.585C>T (p.Gly195=)
12g.20862797T>ACA384092210SLCO1B3,SLCO1B3-SLCO1B7c.670T>A (p.Phe224Ile)
c.359+4226T>A (n.359+4226T>A)
c.142T>A (p.Phe48Ile)
c.586T>A (p.Phe196Ile)
12g.20862797T>CCA384092214SLCO1B3,SLCO1B3-SLCO1B7c.670T>C (p.Phe224Leu)
c.359+4226T>C (n.359+4226T>C)
c.142T>C (p.Phe48Leu)
c.586T>C (p.Phe196Leu)
12g.20862797T>GCA384092212SLCO1B3,SLCO1B3-SLCO1B7c.670T>G (p.Phe224Val)
c.359+4226T>G (n.359+4226T>G)
c.142T>G (p.Phe48Val)
c.586T>G (p.Phe196Val)
12g.20862797_20862798insACA2617889731SLCO1B3,SLCO1B3-SLCO1B7c.670_671insA (p.Phe224TyrfsTer9)
c.359+4226_359+4227insA (n.359+4226_359+4227insA)
c.142_143insA (p.Phe48TyrfsTer9)
c.586_587insA (p.Phe196TyrfsTer9)
 gnomAD v4
12g.20862798T>ACA384092215SLCO1B3,SLCO1B3-SLCO1B7c.671T>A (p.Phe224Tyr)
c.359+4227T>A (n.359+4227T>A)
c.143T>A (p.Phe48Tyr)
c.587T>A (p.Phe196Tyr)
12g.20862798T>CCA384092217SLCO1B3,SLCO1B3-SLCO1B7c.671T>C (p.Phe224Ser)
c.359+4227T>C (n.359+4227T>C)
c.143T>C (p.Phe48Ser)
c.587T>C (p.Phe196Ser)
12g.20862798T>GCA384092219SLCO1B3,SLCO1B3-SLCO1B7c.671T>G (p.Phe224Cys)
c.359+4227T>G (n.359+4227T>G)
c.143T>G (p.Phe48Cys)
c.587T>G (p.Phe196Cys)
12g.20862799T>ACA384092221SLCO1B3,SLCO1B3-SLCO1B7c.672T>A (p.Phe224Leu)
c.359+4228T>A (n.359+4228T>A)
c.144T>A (p.Phe48Leu)
c.588T>A (p.Phe196Leu)
12g.20862799T>CCA478855004SLCO1B3,SLCO1B3-SLCO1B7c.672T>C (p.Phe224=)
c.359+4228T>C (n.359+4228T>C)
c.144T>C (p.Phe48=)
c.588T>C (p.Phe196=)
 dbSNP gnomAD v4
12g.20862799T>GCA384092223SLCO1B3,SLCO1B3-SLCO1B7c.672T>G (p.Phe224Leu)
c.359+4228T>G (n.359+4228T>G)
c.144T>G (p.Phe48Leu)
c.588T>G (p.Phe196Leu)
12g.20862799T=CA2020845734SLCO1B3,SLCO1B3-SLCO1B7c.672T= (p.Phe224=)
c.359+4228T= (n.359+4228T=)
c.144T= (p.Phe48=)
c.588T= (p.Phe196=)
12g.20862800G>ACA384092225SLCO1B3,SLCO1B3-SLCO1B7c.673G>A (p.Ala225Thr)
c.359+4229G>A (n.359+4229G>A)
c.145G>A (p.Ala49Thr)
c.589G>A (p.Ala197Thr)
12g.20862800G>CCA384092227SLCO1B3,SLCO1B3-SLCO1B7c.673G>C (p.Ala225Pro)
c.359+4229G>C (n.359+4229G>C)
c.145G>C (p.Ala49Pro)
c.589G>C (p.Ala197Pro)
12g.20862800G>TCA384092229SLCO1B3,SLCO1B3-SLCO1B7c.673G>T (p.Ala225Ser)
c.359+4229G>T (n.359+4229G>T)
c.145G>T (p.Ala49Ser)
c.589G>T (p.Ala197Ser)
12g.20862801C>ACA384092230SLCO1B3,SLCO1B3-SLCO1B7c.674C>A (p.Ala225Glu)
c.359+4230C>A (n.359+4230C>A)
c.146C>A (p.Ala49Glu)
c.590C>A (p.Ala197Glu)
12g.20862801C>GCA384092231SLCO1B3,SLCO1B3-SLCO1B7c.674C>G (p.Ala225Gly)
c.359+4230C>G (n.359+4230C>G)
c.146C>G (p.Ala49Gly)
c.590C>G (p.Ala197Gly)
12g.20862801C>TCA384092233SLCO1B3,SLCO1B3-SLCO1B7c.674C>T (p.Ala225Val)
c.359+4230C>T (n.359+4230C>T)
c.146C>T (p.Ala49Val)
c.590C>T (p.Ala197Val)
 gnomAD v4
12g.20862802A>CCA478855006SLCO1B3,SLCO1B3-SLCO1B7c.675A>C (p.Ala225=)
c.359+4231A>C (n.359+4231A>C)
c.147A>C (p.Ala49=)
c.591A>C (p.Ala197=)
12g.20862802A>GCA478855007SLCO1B3,SLCO1B3-SLCO1B7c.675A>G (p.Ala225=)
c.359+4231A>G (n.359+4231A>G)
c.147A>G (p.Ala49=)
c.591A>G (p.Ala197=)
12g.20862802A>TCA478855005SLCO1B3,SLCO1B3-SLCO1B7c.675A>T (p.Ala225=)
c.359+4231A>T (n.359+4231A>T)
c.147A>T (p.Ala49=)
c.591A>T (p.Ala197=)
12g.20862803C>ACA384092236SLCO1B3,SLCO1B3-SLCO1B7c.676C>A (p.Leu226Met)
c.359+4232C>A (n.359+4232C>A)
c.148C>A (p.Leu50Met)
c.592C>A (p.Leu198Met)
 ClinVar
12g.20862803C=CA2020845735SLCO1B3,SLCO1B3-SLCO1B7c.676C= (p.Leu226=)
c.359+4232C= (n.359+4232C=)
c.148C= (p.Leu50=)
c.592C= (p.Leu198=)
12g.20862803C>GCA6475290SLCO1B3,SLCO1B3-SLCO1B7c.676C>G (p.Leu226Val)
c.359+4232C>G (n.359+4232C>G)
c.148C>G (p.Leu50Val)
c.592C>G (p.Leu198Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862803C>TCA6475291SLCO1B3,SLCO1B3-SLCO1B7c.676C>T (p.Leu226=)
c.359+4232C>T (n.359+4232C>T)
c.148C>T (p.Leu50=)
c.592C>T (p.Leu198=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.20862804T>ACA384092240SLCO1B3,SLCO1B3-SLCO1B7c.677T>A (p.Leu226Gln)
c.359+4233T>A (n.359+4233T>A)
c.149T>A (p.Leu50Gln)
c.593T>A (p.Leu198Gln)
12g.20862804T>CCA233479634SLCO1B3,SLCO1B3-SLCO1B7c.677T>C (p.Leu226Pro)
c.359+4233T>C (n.359+4233T>C)
c.149T>C (p.Leu50Pro)
c.593T>C (p.Leu198Pro)
 dbSNP gnomAD v4
12g.20862804T>GCA384092242SLCO1B3,SLCO1B3-SLCO1B7c.677T>G (p.Leu226Arg)
c.359+4233T>G (n.359+4233T>G)
c.149T>G (p.Leu50Arg)
c.593T>G (p.Leu198Arg)
12g.20862804T=CA2020845736SLCO1B3,SLCO1B3-SLCO1B7c.677T= (p.Leu226=)
c.359+4233T= (n.359+4233T=)
c.149T= (p.Leu50=)
c.593T= (p.Leu198=)
12g.20862805G>ACA478855008SLCO1B3,SLCO1B3-SLCO1B7c.678G>A (p.Leu226=)
c.359+4234G>A (n.359+4234G>A)
c.150G>A (p.Leu50=)
c.594G>A (p.Leu198=)
12g.20862805G>CCA478855009SLCO1B3,SLCO1B3-SLCO1B7c.678G>C (p.Leu226=)
c.359+4234G>C (n.359+4234G>C)
c.150G>C (p.Leu50=)
c.594G>C (p.Leu198=)
12g.20862805G>TCA478855010SLCO1B3,SLCO1B3-SLCO1B7c.678G>T (p.Leu226=)
c.359+4234G>T (n.359+4234G>T)
c.150G>T (p.Leu50=)
c.594G>T (p.Leu198=)
12g.20862807delCA2617889747SLCO1B3,SLCO1B3-SLCO1B7c.680del (p.Gly227AspfsTer14)
c.359+4236del (n.359+4236del)
c.152del (p.Gly51AspfsTer14)
c.596del (p.Gly199AspfsTer14)
 gnomAD v4
12g.20862806_20862807delCA2617889748SLCO1B3,SLCO1B3-SLCO1B7c.679_680del (p.Gly227IlefsTer5)
c.359+4235_359+4236del (n.359+4235_359+4236del)
c.151_152del (p.Gly51IlefsTer5)
c.595_596del (p.Gly199IlefsTer5)
 gnomAD v4
12g.20862806G>ACA384092245SLCO1B3,SLCO1B3-SLCO1B7c.679G>A (p.Gly227Arg)
c.359+4235G>A (n.359+4235G>A)
c.151G>A (p.Gly51Arg)
c.595G>A (p.Gly199Arg)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.20862806G>CCA384092249SLCO1B3,SLCO1B3-SLCO1B7c.679G>C (p.Gly227Arg)
c.359+4235G>C (n.359+4235G>C)
c.151G>C (p.Gly51Arg)
c.595G>C (p.Gly199Arg)
12g.20862806G=CA2020845737SLCO1B3,SLCO1B3-SLCO1B7c.679G= (p.Gly227=)
c.359+4235G= (n.359+4235G=)
c.151G= (p.Gly51=)
c.595G= (p.Gly199=)
12g.20862806G>TCA384092247SLCO1B3,SLCO1B3-SLCO1B7c.679G>T (p.Gly227Ter)
c.359+4235G>T (n.359+4235G>T)
c.151G>T (p.Gly51Ter)
c.595G>T (p.Gly199Ter)
12g.20862807G>ACA6475292SLCO1B3,SLCO1B3-SLCO1B7c.680G>A (p.Gly227Glu)
c.359+4236G>A (n.359+4236G>A)
c.152G>A (p.Gly51Glu)
c.596G>A (p.Gly199Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.20862807G>CCA384092251SLCO1B3,SLCO1B3-SLCO1B7c.680G>C (p.Gly227Ala)
c.359+4236G>C (n.359+4236G>C)
c.152G>C (p.Gly51Ala)
c.596G>C (p.Gly199Ala)
12g.20862807G=CA2020845738SLCO1B3,SLCO1B3-SLCO1B7c.680G= (p.Gly227=)
c.359+4236G= (n.359+4236G=)
c.152G= (p.Gly51=)
c.596G= (p.Gly199=)

Number of alleles fetched