Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.20862783G>ACA384092160SLCO1B3,SLCO1B3-SLCO1B7c.656G>A (p.Gly219Asp)
c.359+4212G>A (n.359+4212G>A)
c.128G>A (p.Gly43Asp)
c.572G>A (p.Gly191Asp)
12g.20862783G>CCA384092162SLCO1B3,SLCO1B3-SLCO1B7c.656G>C (p.Gly219Ala)
c.359+4212G>C (n.359+4212G>C)
c.128G>C (p.Gly43Ala)
c.572G>C (p.Gly191Ala)
12g.20862783G>TCA384092164SLCO1B3,SLCO1B3-SLCO1B7c.656G>T (p.Gly219Val)
c.359+4212G>T (n.359+4212G>T)
c.128G>T (p.Gly43Val)
c.572G>T (p.Gly191Val)
12g.20862784T>ACA478854993SLCO1B3,SLCO1B3-SLCO1B7c.657T>A (p.Gly219=)
c.359+4213T>A (n.359+4213T>A)
c.129T>A (p.Gly43=)
c.573T>A (p.Gly191=)
12g.20862784T>CCA478854992SLCO1B3,SLCO1B3-SLCO1B7c.657T>C (p.Gly219=)
c.359+4213T>C (n.359+4213T>C)
c.129T>C (p.Gly43=)
c.573T>C (p.Gly191=)
 dbSNP gnomAD v2 gnomAD v4
12g.20862784T>GCA478854991SLCO1B3,SLCO1B3-SLCO1B7c.657T>G (p.Gly219=)
c.359+4213T>G (n.359+4213T>G)
c.129T>G (p.Gly43=)
c.573T>G (p.Gly191=)
12g.20862784T=CA2020845727SLCO1B3,SLCO1B3-SLCO1B7c.657T= (p.Gly219=)
c.359+4213T= (n.359+4213T=)
c.129T= (p.Gly43=)
c.573T= (p.Gly191=)
12g.20862785C>ACA384092165SLCO1B3,SLCO1B3-SLCO1B7c.658C>A (p.Pro220Thr)
c.359+4214C>A (n.359+4214C>A)
c.130C>A (p.Pro44Thr)
c.574C>A (p.Pro192Thr)
12g.20862785C=CA2020845728SLCO1B3,SLCO1B3-SLCO1B7c.658C= (p.Pro220=)
c.359+4214C= (n.359+4214C=)
c.130C= (p.Pro44=)
c.574C= (p.Pro192=)
12g.20862785C>GCA6475288SLCO1B3,SLCO1B3-SLCO1B7c.658C>G (p.Pro220Ala)
c.359+4214C>G (n.359+4214C>G)
c.130C>G (p.Pro44Ala)
c.574C>G (p.Pro192Ala)
 dbSNP ExAC gnomAD v2
12g.20862785C>TCA384092168SLCO1B3,SLCO1B3-SLCO1B7c.658C>T (p.Pro220Ser)
c.359+4214C>T (n.359+4214C>T)
c.130C>T (p.Pro44Ser)
c.574C>T (p.Pro192Ser)
12g.20862786C>ACA384092170SLCO1B3,SLCO1B3-SLCO1B7c.659C>A (p.Pro220Gln)
c.359+4215C>A (n.359+4215C>A)
c.131C>A (p.Pro44Gln)
c.575C>A (p.Pro192Gln)
12g.20862786C=CA2020845729SLCO1B3,SLCO1B3-SLCO1B7c.659C= (p.Pro220=)
c.359+4215C= (n.359+4215C=)
c.131C= (p.Pro44=)
c.575C= (p.Pro192=)
12g.20862786C>GCA384092172SLCO1B3,SLCO1B3-SLCO1B7c.659C>G (p.Pro220Arg)
c.359+4215C>G (n.359+4215C>G)
c.131C>G (p.Pro44Arg)
c.575C>G (p.Pro192Arg)
12g.20862786C>TCA384092174SLCO1B3,SLCO1B3-SLCO1B7c.659C>T (p.Pro220Leu)
c.359+4215C>T (n.359+4215C>T)
c.131C>T (p.Pro44Leu)
c.575C>T (p.Pro192Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.20862787A>CCA478854994SLCO1B3,SLCO1B3-SLCO1B7c.660A>C (p.Pro220=)
c.359+4216A>C (n.359+4216A>C)
c.132A>C (p.Pro44=)
c.576A>C (p.Pro192=)
12g.20862787A>GCA478854996SLCO1B3,SLCO1B3-SLCO1B7c.660A>G (p.Pro220=)
c.359+4216A>G (n.359+4216A>G)
c.132A>G (p.Pro44=)
c.576A>G (p.Pro192=)
12g.20862787A>TCA478854995SLCO1B3,SLCO1B3-SLCO1B7c.660A>T (p.Pro220=)
c.359+4216A>T (n.359+4216A>T)
c.132A>T (p.Pro44=)
c.576A>T (p.Pro192=)
 gnomAD v4
12g.20862788G>ACA233479613SLCO1B3,SLCO1B3-SLCO1B7c.661G>A (p.Val221Ile)
c.359+4217G>A (n.359+4217G>A)
c.133G>A (p.Val45Ile)
c.577G>A (p.Val193Ile)
 dbSNP gnomAD v2 gnomAD v4
12g.20862788G>CCA384092178SLCO1B3,SLCO1B3-SLCO1B7c.661G>C (p.Val221Leu)
c.359+4217G>C (n.359+4217G>C)
c.133G>C (p.Val45Leu)
c.577G>C (p.Val193Leu)
 dbSNP
12g.20862788G=CA2020845730SLCO1B3,SLCO1B3-SLCO1B7c.661G= (p.Val221=)
c.359+4217G= (n.359+4217G=)
c.133G= (p.Val45=)
c.577G= (p.Val193=)
12g.20862788G>TCA384092179SLCO1B3,SLCO1B3-SLCO1B7c.661G>T (p.Val221Phe)
c.359+4217G>T (n.359+4217G>T)
c.133G>T (p.Val45Phe)
c.577G>T (p.Val193Phe)
12g.20862789T>ACA384092184SLCO1B3,SLCO1B3-SLCO1B7c.662T>A (p.Val221Asp)
c.359+4218T>A (n.359+4218T>A)
c.134T>A (p.Val45Asp)
c.578T>A (p.Val193Asp)
12g.20862789T>CCA233479619SLCO1B3,SLCO1B3-SLCO1B7c.662T>C (p.Val221Ala)
c.359+4218T>C (n.359+4218T>C)
c.134T>C (p.Val45Ala)
c.578T>C (p.Val193Ala)
 dbSNP gnomAD v4
12g.20862789T>GCA384092181SLCO1B3,SLCO1B3-SLCO1B7c.662T>G (p.Val221Gly)
c.359+4218T>G (n.359+4218T>G)
c.134T>G (p.Val45Gly)
c.578T>G (p.Val193Gly)
 gnomAD v4
12g.20862789T=CA2020845731SLCO1B3,SLCO1B3-SLCO1B7c.662T= (p.Val221=)
c.359+4218T= (n.359+4218T=)
c.134T= (p.Val45=)
c.578T= (p.Val193=)
12g.20862790C>ACA478854997SLCO1B3,SLCO1B3-SLCO1B7c.663C>A (p.Val221=)
c.359+4219C>A (n.359+4219C>A)
c.135C>A (p.Val45=)
c.579C>A (p.Val193=)
12g.20862790C=CA2020845732SLCO1B3,SLCO1B3-SLCO1B7c.663C= (p.Val221=)
c.359+4219C= (n.359+4219C=)
c.135C= (p.Val45=)
c.579C= (p.Val193=)
12g.20862790C>GCA478854998SLCO1B3,SLCO1B3-SLCO1B7c.663C>G (p.Val221=)
c.359+4219C>G (n.359+4219C>G)
c.135C>G (p.Val45=)
c.579C>G (p.Val193=)
12g.20862790C>TCA6475289SLCO1B3,SLCO1B3-SLCO1B7c.663C>T (p.Val221=)
c.359+4219C>T (n.359+4219C>T)
c.135C>T (p.Val45=)
c.579C>T (p.Val193=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862791A>CCA384092189SLCO1B3,SLCO1B3-SLCO1B7c.664A>C (p.Ile222Leu)
c.359+4220A>C (n.359+4220A>C)
c.136A>C (p.Ile46Leu)
c.580A>C (p.Ile194Leu)
12g.20862791A>GCA384092190SLCO1B3,SLCO1B3-SLCO1B7c.664A>G (p.Ile222Val)
c.359+4220A>G (n.359+4220A>G)
c.136A>G (p.Ile46Val)
c.580A>G (p.Ile194Val)
12g.20862791A>TCA384092192SLCO1B3,SLCO1B3-SLCO1B7c.664A>T (p.Ile222Phe)
c.359+4220A>T (n.359+4220A>T)
c.136A>T (p.Ile46Phe)
c.580A>T (p.Ile194Phe)
12g.20862792T>ACA384092194SLCO1B3,SLCO1B3-SLCO1B7c.665T>A (p.Ile222Asn)
c.359+4221T>A (n.359+4221T>A)
c.137T>A (p.Ile46Asn)
c.581T>A (p.Ile194Asn)
12g.20862792T>CCA384092196SLCO1B3,SLCO1B3-SLCO1B7c.665T>C (p.Ile222Thr)
c.359+4221T>C (n.359+4221T>C)
c.137T>C (p.Ile46Thr)
c.581T>C (p.Ile194Thr)
 gnomAD v4
12g.20862792T>GCA384092197SLCO1B3,SLCO1B3-SLCO1B7c.665T>G (p.Ile222Ser)
c.359+4221T>G (n.359+4221T>G)
c.137T>G (p.Ile46Ser)
c.581T>G (p.Ile194Ser)
12g.20862793T>ACA478854999SLCO1B3,SLCO1B3-SLCO1B7c.666T>A (p.Ile222=)
c.359+4222T>A (n.359+4222T>A)
c.138T>A (p.Ile46=)
c.582T>A (p.Ile194=)
12g.20862793T>CCA478855000SLCO1B3,SLCO1B3-SLCO1B7c.666T>C (p.Ile222=)
c.359+4222T>C (n.359+4222T>C)
c.138T>C (p.Ile46=)
c.582T>C (p.Ile194=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.20862793T>GCA384092198SLCO1B3,SLCO1B3-SLCO1B7c.666T>G (p.Ile222Met)
c.359+4222T>G (n.359+4222T>G)
c.138T>G (p.Ile46Met)
c.582T>G (p.Ile194Met)
12g.20862793T=CA2020845733SLCO1B3,SLCO1B3-SLCO1B7c.666T= (p.Ile222=)
c.359+4222T= (n.359+4222T=)
c.138T= (p.Ile46=)
c.582T= (p.Ile194=)
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=)

Number of alleles fetched