Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
12g.20862807G>TCA384092250SLCO1B3,SLCO1B3-SLCO1B7c.680G>T (p.Gly227Val)
c.359+4236G>T (n.359+4236G>T)
c.152G>T (p.Gly51Val)
c.596G>T (p.Gly199Val)
12g.20862808A=CA2020845739SLCO1B3,SLCO1B3-SLCO1B7c.681A= (p.Gly227=)
c.359+4237A= (n.359+4237A=)
c.153A= (p.Gly51=)
c.597A= (p.Gly199=)
12g.20862808A>CCA478855011SLCO1B3,SLCO1B3-SLCO1B7c.681A>C (p.Gly227=)
c.359+4237A>C (n.359+4237A>C)
c.153A>C (p.Gly51=)
c.597A>C (p.Gly199=)
12g.20862808A>GCA478855012SLCO1B3,SLCO1B3-SLCO1B7c.681A>G (p.Gly227=)
c.359+4237A>G (n.359+4237A>G)
c.153A>G (p.Gly51=)
c.597A>G (p.Gly199=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.20862808A>TCA478855013SLCO1B3,SLCO1B3-SLCO1B7c.681A>T (p.Gly227=)
c.359+4237A>T (n.359+4237A>T)
c.153A>T (p.Gly51=)
c.597A>T (p.Gly199=)
 gnomAD v4
12g.20862809T>ACA384092252SLCO1B3,SLCO1B3-SLCO1B7c.682T>A (p.Ser228Thr)
c.359+4238T>A (n.359+4238T>A)
c.154T>A (p.Ser52Thr)
c.598T>A (p.Ser200Thr)
12g.20862809T>CCA384092253SLCO1B3,SLCO1B3-SLCO1B7c.682T>C (p.Ser228Pro)
c.359+4238T>C (n.359+4238T>C)
c.154T>C (p.Ser52Pro)
c.598T>C (p.Ser200Pro)
12g.20862809T>GCA384092254SLCO1B3,SLCO1B3-SLCO1B7c.682T>G (p.Ser228Ala)
c.359+4238T>G (n.359+4238T>G)
c.154T>G (p.Ser52Ala)
c.598T>G (p.Ser200Ala)
12g.20862810C>ACA6475293SLCO1B3,SLCO1B3-SLCO1B7c.683C>A (p.Ser228Tyr)
c.359+4239C>A (n.359+4239C>A)
c.155C>A (p.Ser52Tyr)
c.599C>A (p.Ser200Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862810C=CA2020845740SLCO1B3,SLCO1B3-SLCO1B7c.683C= (p.Ser228=)
c.359+4239C= (n.359+4239C=)
c.155C= (p.Ser52=)
c.599C= (p.Ser200=)
12g.20862810C>GCA384092255SLCO1B3,SLCO1B3-SLCO1B7c.683C>G (p.Ser228Cys)
c.359+4239C>G (n.359+4239C>G)
c.155C>G (p.Ser52Cys)
c.599C>G (p.Ser200Cys)
12g.20862810C>TCA384092256SLCO1B3,SLCO1B3-SLCO1B7c.683C>T (p.Ser228Phe)
c.359+4239C>T (n.359+4239C>T)
c.155C>T (p.Ser52Phe)
c.599C>T (p.Ser200Phe)
12g.20862811T>ACA478855014SLCO1B3,SLCO1B3-SLCO1B7c.684T>A (p.Ser228=)
c.359+4240T>A (n.359+4240T>A)
c.156T>A (p.Ser52=)
c.600T>A (p.Ser200=)
12g.20862811T>CCA478855015SLCO1B3,SLCO1B3-SLCO1B7c.684T>C (p.Ser228=)
c.359+4240T>C (n.359+4240T>C)
c.156T>C (p.Ser52=)
c.600T>C (p.Ser200=)
12g.20862811T>GCA478855016SLCO1B3,SLCO1B3-SLCO1B7c.684T>G (p.Ser228=)
c.359+4240T>G (n.359+4240T>G)
c.156T>G (p.Ser52=)
c.600T>G (p.Ser200=)
12g.20862812C>ACA384092257SLCO1B3,SLCO1B3-SLCO1B7c.685C>A (p.Leu229Met)
c.359+4241C>A (n.359+4241C>A)
c.157C>A (p.Leu53Met)
c.601C>A (p.Leu201Met)
12g.20862812C=CA2020845741SLCO1B3,SLCO1B3-SLCO1B7c.685C= (p.Leu229=)
c.359+4241C= (n.359+4241C=)
c.157C= (p.Leu53=)
c.601C= (p.Leu201=)
12g.20862812C>GCA384092258SLCO1B3,SLCO1B3-SLCO1B7c.685C>G (p.Leu229Val)
c.359+4241C>G (n.359+4241C>G)
c.157C>G (p.Leu53Val)
c.601C>G (p.Leu201Val)
 gnomAD v4
12g.20862812C>TCA6475294SLCO1B3,SLCO1B3-SLCO1B7c.685C>T (p.Leu229=)
c.359+4241C>T (n.359+4241C>T)
c.157C>T (p.Leu53=)
c.601C>T (p.Leu201=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.20862813T>ACA384092259SLCO1B3,SLCO1B3-SLCO1B7c.686T>A (p.Leu229Gln)
c.359+4242T>A (n.359+4242T>A)
c.158T>A (p.Leu53Gln)
c.602T>A (p.Leu201Gln)
12g.20862813T>CCA6475295SLCO1B3,SLCO1B3-SLCO1B7c.686T>C (p.Leu229Pro)
c.359+4242T>C (n.359+4242T>C)
c.158T>C (p.Leu53Pro)
c.602T>C (p.Leu201Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862813T>GCA384092260SLCO1B3,SLCO1B3-SLCO1B7c.686T>G (p.Leu229Arg)
c.359+4242T>G (n.359+4242T>G)
c.158T>G (p.Leu53Arg)
c.602T>G (p.Leu201Arg)
 gnomAD v4
12g.20862813T=CA2020845742SLCO1B3,SLCO1B3-SLCO1B7c.686T= (p.Leu229=)
c.359+4242T= (n.359+4242T=)
c.158T= (p.Leu53=)
c.602T= (p.Leu201=)
12g.20862815_20862818delCA2617889783SLCO1B3,SLCO1B3-SLCO1B7c.688_691del (p.Phe230LeufsTer10)
c.359+4244_359+4247del (n.359+4244_359+4247del)
c.160_163del (p.Phe54LeufsTer10)
c.604_607del (p.Phe202LeufsTer10)
 gnomAD v4
12g.20862814G>ACA478855017SLCO1B3,SLCO1B3-SLCO1B7c.687G>A (p.Leu229=)
c.359+4243G>A (n.359+4243G>A)
c.159G>A (p.Leu53=)
c.603G>A (p.Leu201=)
 gnomAD v4
12g.20862814G>CCA478855019SLCO1B3,SLCO1B3-SLCO1B7c.687G>C (p.Leu229=)
c.359+4243G>C (n.359+4243G>C)
c.159G>C (p.Leu53=)
c.603G>C (p.Leu201=)
12g.20862814G>TCA478855018SLCO1B3,SLCO1B3-SLCO1B7c.687G>T (p.Leu229=)
c.359+4243G>T (n.359+4243G>T)
c.159G>T (p.Leu53=)
c.603G>T (p.Leu201=)

Number of alleles fetched