Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.20862773G>ACA384092112SLCO1B3,SLCO1B3-SLCO1B7c.646G>A (p.Gly216Arg)
c.359+4202G>A (n.359+4202G>A)
c.118G>A (p.Gly40Arg)
c.562G>A (p.Gly188Arg)
 dbSNP gnomAD v4
12g.20862773G>CCA384092114SLCO1B3,SLCO1B3-SLCO1B7c.646G>C (p.Gly216Arg)
c.359+4202G>C (n.359+4202G>C)
c.118G>C (p.Gly40Arg)
c.562G>C (p.Gly188Arg)
12g.20862773G=CA2020845723SLCO1B3,SLCO1B3-SLCO1B7c.646G= (p.Gly216=)
c.359+4202G= (n.359+4202G=)
c.118G= (p.Gly40=)
c.562G= (p.Gly188=)
12g.20862773G>TCA384092116SLCO1B3,SLCO1B3-SLCO1B7c.646G>T (p.Gly216Ter)
c.359+4202G>T (n.359+4202G>T)
c.118G>T (p.Gly40Ter)
c.562G>T (p.Gly188Ter)
12g.20862774G>ACA6475286SLCO1B3,SLCO1B3-SLCO1B7c.647G>A (p.Gly216Glu)
c.359+4203G>A (n.359+4203G>A)
c.119G>A (p.Gly40Glu)
c.563G>A (p.Gly188Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.20862774G>CCA384092118SLCO1B3,SLCO1B3-SLCO1B7c.647G>C (p.Gly216Ala)
c.359+4203G>C (n.359+4203G>C)
c.119G>C (p.Gly40Ala)
c.563G>C (p.Gly188Ala)
12g.20862774G=CA2020845724SLCO1B3,SLCO1B3-SLCO1B7c.647G= (p.Gly216=)
c.359+4203G= (n.359+4203G=)
c.119G= (p.Gly40=)
c.563G= (p.Gly188=)
12g.20862774G>TCA384092120SLCO1B3,SLCO1B3-SLCO1B7c.647G>T (p.Gly216Val)
c.359+4203G>T (n.359+4203G>T)
c.119G>T (p.Gly40Val)
c.563G>T (p.Gly188Val)
 ClinVar
12g.20862775A>CCA478854986SLCO1B3,SLCO1B3-SLCO1B7c.648A>C (p.Gly216=)
c.359+4204A>C (n.359+4204A>C)
c.120A>C (p.Gly40=)
c.564A>C (p.Gly188=)
12g.20862775A>GCA478854987SLCO1B3,SLCO1B3-SLCO1B7c.648A>G (p.Gly216=)
c.359+4204A>G (n.359+4204A>G)
c.120A>G (p.Gly40=)
c.564A>G (p.Gly188=)
12g.20862775A>TCA478854988SLCO1B3,SLCO1B3-SLCO1B7c.648A>T (p.Gly216=)
c.359+4204A>T (n.359+4204A>T)
c.120A>T (p.Gly40=)
c.564A>T (p.Gly188=)
 gnomAD v4
12g.20862776A>CCA384092124SLCO1B3,SLCO1B3-SLCO1B7c.649A>C (p.Met217Leu)
c.359+4205A>C (n.359+4205A>C)
c.121A>C (p.Met41Leu)
c.565A>C (p.Met189Leu)
12g.20862776A>GCA384092125SLCO1B3,SLCO1B3-SLCO1B7c.649A>G (p.Met217Val)
c.359+4205A>G (n.359+4205A>G)
c.121A>G (p.Met41Val)
c.565A>G (p.Met189Val)
12g.20862776A>TCA384092122SLCO1B3,SLCO1B3-SLCO1B7c.649A>T (p.Met217Leu)
c.359+4205A>T (n.359+4205A>T)
c.121A>T (p.Met41Leu)
c.565A>T (p.Met189Leu)
12g.20862777T>ACA384092128SLCO1B3,SLCO1B3-SLCO1B7c.650T>A (p.Met217Lys)
c.359+4206T>A (n.359+4206T>A)
c.122T>A (p.Met41Lys)
c.566T>A (p.Met189Lys)
12g.20862777T>CCA384092132SLCO1B3,SLCO1B3-SLCO1B7c.650T>C (p.Met217Thr)
c.359+4206T>C (n.359+4206T>C)
c.122T>C (p.Met41Thr)
c.566T>C (p.Met189Thr)
12g.20862777T>GCA384092130SLCO1B3,SLCO1B3-SLCO1B7c.650T>G (p.Met217Arg)
c.359+4206T>G (n.359+4206T>G)
c.122T>G (p.Met41Arg)
c.566T>G (p.Met189Arg)
12g.20862778G>ACA384092134SLCO1B3,SLCO1B3-SLCO1B7c.651G>A (p.Met217Ile)
c.359+4207G>A (n.359+4207G>A)
c.123G>A (p.Met41Ile)
c.567G>A (p.Met189Ile)
 COSMIC
12g.20862778G>CCA384092135SLCO1B3,SLCO1B3-SLCO1B7c.651G>C (p.Met217Ile)
c.359+4207G>C (n.359+4207G>C)
c.123G>C (p.Met41Ile)
c.567G>C (p.Met189Ile)
12g.20862778G>TCA384092137SLCO1B3,SLCO1B3-SLCO1B7c.651G>T (p.Met217Ile)
c.359+4207G>T (n.359+4207G>T)
c.123G>T (p.Met41Ile)
c.567G>T (p.Met189Ile)
12g.20862779A>CCA384092140SLCO1B3,SLCO1B3-SLCO1B7c.652A>C (p.Ile218Leu)
c.359+4208A>C (n.359+4208A>C)
c.124A>C (p.Ile42Leu)
c.568A>C (p.Ile190Leu)
12g.20862779A>GCA384092142SLCO1B3,SLCO1B3-SLCO1B7c.652A>G (p.Ile218Val)
c.359+4208A>G (n.359+4208A>G)
c.124A>G (p.Ile42Val)
c.568A>G (p.Ile190Val)
 gnomAD v4 COSMIC
12g.20862779A>TCA384092144SLCO1B3,SLCO1B3-SLCO1B7c.652A>T (p.Ile218Phe)
c.359+4208A>T (n.359+4208A>T)
c.124A>T (p.Ile42Phe)
c.568A>T (p.Ile190Phe)
12g.20862780T>ACA384092147SLCO1B3,SLCO1B3-SLCO1B7c.653T>A (p.Ile218Asn)
c.359+4209T>A (n.359+4209T>A)
c.125T>A (p.Ile42Asn)
c.569T>A (p.Ile190Asn)
12g.20862780T>CCA384092148SLCO1B3,SLCO1B3-SLCO1B7c.653T>C (p.Ile218Thr)
c.359+4209T>C (n.359+4209T>C)
c.125T>C (p.Ile42Thr)
c.569T>C (p.Ile190Thr)
 gnomAD v4
12g.20862780T>GCA384092150SLCO1B3,SLCO1B3-SLCO1B7c.653T>G (p.Ile218Ser)
c.359+4209T>G (n.359+4209T>G)
c.125T>G (p.Ile42Ser)
c.569T>G (p.Ile190Ser)
12g.20862781T>ACA478854989SLCO1B3,SLCO1B3-SLCO1B7c.654T>A (p.Ile218=)
c.359+4210T>A (n.359+4210T>A)
c.126T>A (p.Ile42=)
c.570T>A (p.Ile190=)
 gnomAD v4
12g.20862781T>CCA478854990SLCO1B3,SLCO1B3-SLCO1B7c.654T>C (p.Ile218=)
c.359+4210T>C (n.359+4210T>C)
c.126T>C (p.Ile42=)
c.570T>C (p.Ile190=)
12g.20862781T>GCA6475287SLCO1B3,SLCO1B3-SLCO1B7c.654T>G (p.Ile218Met)
c.359+4210T>G (n.359+4210T>G)
c.126T>G (p.Ile42Met)
c.570T>G (p.Ile190Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.20862781T=CA2020845725SLCO1B3,SLCO1B3-SLCO1B7c.654T= (p.Ile218=)
c.359+4210T= (n.359+4210T=)
c.126T= (p.Ile42=)
c.570T= (p.Ile190=)
12g.20862782G>ACA384092158SLCO1B3,SLCO1B3-SLCO1B7c.655G>A (p.Gly219Ser)
c.359+4211G>A (n.359+4211G>A)
c.127G>A (p.Gly43Ser)
c.571G>A (p.Gly191Ser)
 dbSNP
12g.20862782G>CCA384092156SLCO1B3,SLCO1B3-SLCO1B7c.655G>C (p.Gly219Arg)
c.359+4211G>C (n.359+4211G>C)
c.127G>C (p.Gly43Arg)
c.571G>C (p.Gly191Arg)
 dbSNP
12g.20862782G=CA2020845726SLCO1B3,SLCO1B3-SLCO1B7c.655G= (p.Gly219=)
c.359+4211G= (n.359+4211G=)
c.127G= (p.Gly43=)
c.571G= (p.Gly191=)
12g.20862782G>TCA384092154SLCO1B3,SLCO1B3-SLCO1B7c.655G>T (p.Gly219Cys)
c.359+4211G>T (n.359+4211G>T)
c.127G>T (p.Gly43Cys)
c.571G>T (p.Gly191Cys)
 COSMIC
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=)

Number of alleles fetched