Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.20862769A=CA2020845720SLCO1B3,SLCO1B3-SLCO1B7c.642A= (p.Ala214=)
c.359+4198A= (n.359+4198A=)
c.114A= (p.Ala38=)
c.558A= (p.Ala186=)
12g.20862769A>CCA6475283SLCO1B3,SLCO1B3-SLCO1B7c.642A>C (p.Ala214=)
c.359+4198A>C (n.359+4198A>C)
c.114A>C (p.Ala38=)
c.558A>C (p.Ala186=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.20862769A>GCA478854982SLCO1B3,SLCO1B3-SLCO1B7c.642A>G (p.Ala214=)
c.359+4198A>G (n.359+4198A>G)
c.114A>G (p.Ala38=)
c.558A>G (p.Ala186=)
 dbSNP
12g.20862769A>TCA478854983SLCO1B3,SLCO1B3-SLCO1B7c.642A>T (p.Ala214=)
c.359+4198A>T (n.359+4198A>T)
c.114A>T (p.Ala38=)
c.558A>T (p.Ala186=)
12g.20862770A=CA2020845721SLCO1B3,SLCO1B3-SLCO1B7c.643A= (p.Ile215=)
c.359+4199A= (n.359+4199A=)
c.115A= (p.Ile39=)
c.559A= (p.Ile187=)
12g.20862770A>CCA384092100SLCO1B3,SLCO1B3-SLCO1B7c.643A>C (p.Ile215Leu)
c.359+4199A>C (n.359+4199A>C)
c.115A>C (p.Ile39Leu)
c.559A>C (p.Ile187Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.20862770A>GCA6475284SLCO1B3,SLCO1B3-SLCO1B7c.643A>G (p.Ile215Val)
c.359+4199A>G (n.359+4199A>G)
c.115A>G (p.Ile39Val)
c.559A>G (p.Ile187Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.20862770A>TCA384092103SLCO1B3,SLCO1B3-SLCO1B7c.643A>T (p.Ile215Leu)
c.359+4199A>T (n.359+4199A>T)
c.115A>T (p.Ile39Leu)
c.559A>T (p.Ile187Leu)
12g.20862771T>ACA384092109SLCO1B3,SLCO1B3-SLCO1B7c.644T>A (p.Ile215Lys)
c.359+4200T>A (n.359+4200T>A)
c.116T>A (p.Ile39Lys)
c.560T>A (p.Ile187Lys)
12g.20862771T>CCA384092107SLCO1B3,SLCO1B3-SLCO1B7c.644T>C (p.Ile215Thr)
c.359+4200T>C (n.359+4200T>C)
c.116T>C (p.Ile39Thr)
c.560T>C (p.Ile187Thr)
 gnomAD v4
12g.20862771T>GCA384092105SLCO1B3,SLCO1B3-SLCO1B7c.644T>G (p.Ile215Arg)
c.359+4200T>G (n.359+4200T>G)
c.116T>G (p.Ile39Arg)
c.560T>G (p.Ile187Arg)
12g.20862772A=CA2020845722SLCO1B3,SLCO1B3-SLCO1B7c.645A= (p.Ile215=)
c.359+4201A= (n.359+4201A=)
c.117A= (p.Ile39=)
c.561A= (p.Ile187=)
12g.20862772A>CCA478854984SLCO1B3,SLCO1B3-SLCO1B7c.645A>C (p.Ile215=)
c.359+4201A>C (n.359+4201A>C)
c.117A>C (p.Ile39=)
c.561A>C (p.Ile187=)
12g.20862772A>GCA6475285SLCO1B3,SLCO1B3-SLCO1B7c.645A>G (p.Ile215Met)
c.359+4201A>G (n.359+4201A>G)
c.117A>G (p.Ile39Met)
c.561A>G (p.Ile187Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862772A>TCA478854985SLCO1B3,SLCO1B3-SLCO1B7c.645A>T (p.Ile215=)
c.359+4201A>T (n.359+4201A>T)
c.117A>T (p.Ile39=)
c.561A>T (p.Ile187=)
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=)
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=)
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=)
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=)
12g.20862815T>ACA384092263SLCO1B3,SLCO1B3-SLCO1B7c.688T>A (p.Phe230Ile)
c.359+4244T>A (n.359+4244T>A)
c.160T>A (p.Phe54Ile)
c.604T>A (p.Phe202Ile)
12g.20862815T>CCA384092261SLCO1B3,SLCO1B3-SLCO1B7c.688T>C (p.Phe230Leu)
c.359+4244T>C (n.359+4244T>C)
c.160T>C (p.Phe54Leu)
c.604T>C (p.Phe202Leu)
12g.20862815T>GCA384092262SLCO1B3,SLCO1B3-SLCO1B7c.688T>G (p.Phe230Val)
c.359+4244T>G (n.359+4244T>G)
c.160T>G (p.Phe54Val)
c.604T>G (p.Phe202Val)
12g.20862816T>ACA384092264SLCO1B3,SLCO1B3-SLCO1B7c.689T>A (p.Phe230Tyr)
c.359+4245T>A (n.359+4245T>A)
c.161T>A (p.Phe54Tyr)
c.605T>A (p.Phe202Tyr)
12g.20862816T>CCA384092265SLCO1B3,SLCO1B3-SLCO1B7c.689T>C (p.Phe230Ser)
c.359+4245T>C (n.359+4245T>C)
c.161T>C (p.Phe54Ser)
c.605T>C (p.Phe202Ser)
 dbSNP
12g.20862816T>GCA384092266SLCO1B3,SLCO1B3-SLCO1B7c.689T>G (p.Phe230Cys)
c.359+4245T>G (n.359+4245T>G)
c.161T>G (p.Phe54Cys)
c.605T>G (p.Phe202Cys)
12g.20862816T=CA2020845743SLCO1B3,SLCO1B3-SLCO1B7c.689T= (p.Phe230=)
c.359+4245T= (n.359+4245T=)
c.161T= (p.Phe54=)
c.605T= (p.Phe202=)
12g.20862817T>ACA384092267SLCO1B3,SLCO1B3-SLCO1B7c.690T>A (p.Phe230Leu)
c.359+4246T>A (n.359+4246T>A)
c.162T>A (p.Phe54Leu)
c.606T>A (p.Phe202Leu)
12g.20862817T>CCA478855020SLCO1B3,SLCO1B3-SLCO1B7c.690T>C (p.Phe230=)
c.359+4246T>C (n.359+4246T>C)
c.162T>C (p.Phe54=)
c.606T>C (p.Phe202=)
12g.20862817T>GCA384092268SLCO1B3,SLCO1B3-SLCO1B7c.690T>G (p.Phe230Leu)
c.359+4246T>G (n.359+4246T>G)
c.162T>G (p.Phe54Leu)
c.606T>G (p.Phe202Leu)
12g.20862818G>ACA384092269SLCO1B3,SLCO1B3-SLCO1B7c.691G>A (p.Ala231Thr)
c.359+4247G>A (n.359+4247G>A)
c.163G>A (p.Ala55Thr)
c.607G>A (p.Ala203Thr)
12g.20862818G>CCA384092270SLCO1B3,SLCO1B3-SLCO1B7c.691G>C (p.Ala231Pro)
c.359+4247G>C (n.359+4247G>C)
c.163G>C (p.Ala55Pro)
c.607G>C (p.Ala203Pro)
12g.20862818G>TCA384092271SLCO1B3,SLCO1B3-SLCO1B7c.691G>T (p.Ala231Ser)
c.359+4247G>T (n.359+4247G>T)
c.163G>T (p.Ala55Ser)
c.607G>T (p.Ala203Ser)
12g.20862819C>ACA384092272SLCO1B3,SLCO1B3-SLCO1B7c.692C>A (p.Ala231Asp)
c.359+4248C>A (n.359+4248C>A)
c.164C>A (p.Ala55Asp)
c.608C>A (p.Ala203Asp)
 gnomAD v4
12g.20862819C>GCA384092273SLCO1B3,SLCO1B3-SLCO1B7c.692C>G (p.Ala231Gly)
c.359+4248C>G (n.359+4248C>G)
c.164C>G (p.Ala55Gly)
c.608C>G (p.Ala203Gly)
12g.20862819C>TCA384092274SLCO1B3,SLCO1B3-SLCO1B7c.692C>T (p.Ala231Val)
c.359+4248C>T (n.359+4248C>T)
c.164C>T (p.Ala55Val)
c.608C>T (p.Ala203Val)
12g.20862820T>ACA478855021SLCO1B3,SLCO1B3-SLCO1B7c.693T>A (p.Ala231=)
c.359+4249T>A (n.359+4249T>A)
c.165T>A (p.Ala55=)
c.609T>A (p.Ala203=)
12g.20862820T>CCA478855022SLCO1B3,SLCO1B3-SLCO1B7c.693T>C (p.Ala231=)
c.359+4249T>C (n.359+4249T>C)
c.165T>C (p.Ala55=)
c.609T>C (p.Ala203=)
12g.20862820T>GCA478855023SLCO1B3,SLCO1B3-SLCO1B7c.693T>G (p.Ala231=)
c.359+4249T>G (n.359+4249T>G)
c.165T>G (p.Ala55=)
c.609T>G (p.Ala203=)
12g.20862821A=CA2020845744SLCO1B3,SLCO1B3-SLCO1B7c.694A= (p.Lys232=)
c.359+4250A= (n.359+4250A=)
c.166A= (p.Lys56=)
c.610A= (p.Lys204=)
12g.20862821A>CCA384092276SLCO1B3,SLCO1B3-SLCO1B7c.694A>C (p.Lys232Gln)
c.359+4250A>C (n.359+4250A>C)
c.166A>C (p.Lys56Gln)
c.610A>C (p.Lys204Gln)
12g.20862821A>GCA6475296SLCO1B3,SLCO1B3-SLCO1B7c.694A>G (p.Lys232Glu)
c.359+4250A>G (n.359+4250A>G)
c.166A>G (p.Lys56Glu)
c.610A>G (p.Lys204Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862821A>TCA384092275SLCO1B3,SLCO1B3-SLCO1B7c.694A>T (p.Lys232Ter)
c.359+4250A>T (n.359+4250A>T)
c.166A>T (p.Lys56Ter)
c.610A>T (p.Lys204Ter)
12g.20862824delCA2617889789SLCO1B3,SLCO1B3-SLCO1B7c.697del (p.Met233CysfsTer8)
c.359+4253del (n.359+4253del)
c.169del (p.Met57CysfsTer8)
c.613del (p.Met205CysfsTer8)
 gnomAD v4
12g.20862822A>CCA384092279SLCO1B3,SLCO1B3-SLCO1B7c.695A>C (p.Lys232Thr)
c.359+4251A>C (n.359+4251A>C)
c.167A>C (p.Lys56Thr)
c.611A>C (p.Lys204Thr)
12g.20862822A>GCA384092277SLCO1B3,SLCO1B3-SLCO1B7c.695A>G (p.Lys232Arg)
c.359+4251A>G (n.359+4251A>G)
c.167A>G (p.Lys56Arg)
c.611A>G (p.Lys204Arg)
 gnomAD v4
12g.20862822A>TCA384092278SLCO1B3,SLCO1B3-SLCO1B7c.695A>T (p.Lys232Ile)
c.359+4251A>T (n.359+4251A>T)
c.167A>T (p.Lys56Ile)
c.611A>T (p.Lys204Ile)
12g.20862823A>CCA384092280SLCO1B3,SLCO1B3-SLCO1B7c.696A>C (p.Lys232Asn)
c.359+4252A>C (n.359+4252A>C)
c.168A>C (p.Lys56Asn)
c.612A>C (p.Lys204Asn)
12g.20862823A>GCA478855024SLCO1B3,SLCO1B3-SLCO1B7c.696A>G (p.Lys232=)
c.359+4252A>G (n.359+4252A>G)
c.168A>G (p.Lys56=)
c.612A>G (p.Lys204=)
12g.20862823A>TCA384092281SLCO1B3,SLCO1B3-SLCO1B7c.696A>T (p.Lys232Asn)
c.359+4252A>T (n.359+4252A>T)
c.168A>T (p.Lys56Asn)
c.612A>T (p.Lys204Asn)
12g.20862824A=CA2020845745SLCO1B3,SLCO1B3-SLCO1B7c.697A= (p.Met233=)
c.359+4253A= (n.359+4253A=)
c.169A= (p.Met57=)
c.613A= (p.Met205=)
12g.20862824A>CCA6475297SLCO1B3,SLCO1B3-SLCO1B7c.697A>C (p.Met233Leu)
c.359+4253A>C (n.359+4253A>C)
c.169A>C (p.Met57Leu)
c.613A>C (p.Met205Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862824A>GCA384092282SLCO1B3,SLCO1B3-SLCO1B7c.697A>G (p.Met233Val)
c.359+4253A>G (n.359+4253A>G)
c.169A>G (p.Met57Val)
c.613A>G (p.Met205Val)
12g.20862824A>TCA384092283SLCO1B3,SLCO1B3-SLCO1B7c.697A>T (p.Met233Leu)
c.359+4253A>T (n.359+4253A>T)
c.169A>T (p.Met57Leu)
c.613A>T (p.Met205Leu)
12g.20862825T>ACA384092284SLCO1B3,SLCO1B3-SLCO1B7c.698T>A (p.Met233Lys)
c.359+4254T>A (n.359+4254T>A)
c.170T>A (p.Met57Lys)
c.614T>A (p.Met205Lys)
12g.20862825T>CCA384092285SLCO1B3,SLCO1B3-SLCO1B7c.698T>C (p.Met233Thr)
c.359+4254T>C (n.359+4254T>C)
c.170T>C (p.Met57Thr)
c.614T>C (p.Met205Thr)
12g.20862825T>GCA384092286SLCO1B3,SLCO1B3-SLCO1B7c.698T>G (p.Met233Arg)
c.359+4254T>G (n.359+4254T>G)
c.170T>G (p.Met57Arg)
c.614T>G (p.Met205Arg)
12g.20862826G>ACA6475298SLCO1B3,SLCO1B3-SLCO1B7c.699G>A (p.Met233Ile)
c.359+4255G>A (n.359+4255G>A)
c.171G>A (p.Met57Ile)
c.615G>A (p.Met205Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862826G>CCA384092287SLCO1B3,SLCO1B3-SLCO1B7c.699G>C (p.Met233Ile)
c.359+4255G>C (n.359+4255G>C)
c.171G>C (p.Met57Ile)
c.615G>C (p.Met205Ile)
12g.20862826G=CA2020845746SLCO1B3,SLCO1B3-SLCO1B7c.699G= (p.Met233=)
c.359+4255G= (n.359+4255G=)
c.171G= (p.Met57=)
c.615G= (p.Met205=)
12g.20862826G>TCA384092288SLCO1B3,SLCO1B3-SLCO1B7c.699G>T (p.Met233Ile)
c.359+4255G>T (n.359+4255G>T)
c.171G>T (p.Met57Ile)
c.615G>T (p.Met205Ile)
12g.20862827T>ACA384092291SLCO1B3,SLCO1B3-SLCO1B7c.700T>A (p.Tyr234Asn)
c.359+4256T>A (n.359+4256T>A)
c.172T>A (p.Tyr58Asn)
c.616T>A (p.Tyr206Asn)
12g.20862827T>CCA384092289SLCO1B3,SLCO1B3-SLCO1B7c.700T>C (p.Tyr234His)
c.359+4256T>C (n.359+4256T>C)
c.172T>C (p.Tyr58His)
c.616T>C (p.Tyr206His)
12g.20862827T>GCA384092290SLCO1B3,SLCO1B3-SLCO1B7c.700T>G (p.Tyr234Asp)
c.359+4256T>G (n.359+4256T>G)
c.172T>G (p.Tyr58Asp)
c.616T>G (p.Tyr206Asp)
12g.20862827_20862828insCCCA2617889799SLCO1B3,SLCO1B3-SLCO1B7c.700_701insCC (p.Tyr234SerfsTer8)
c.359+4256_359+4257insCC (n.359+4256_359+4257insCC)
c.172_173insCC (p.Tyr58SerfsTer8)
c.616_617insCC (p.Tyr206SerfsTer8)
 gnomAD v4
12g.20862828A>CCA384092292SLCO1B3,SLCO1B3-SLCO1B7c.701A>C (p.Tyr234Ser)
c.359+4257A>C (n.359+4257A>C)
c.173A>C (p.Tyr58Ser)
c.617A>C (p.Tyr206Ser)
12g.20862828A>GCA384092293SLCO1B3,SLCO1B3-SLCO1B7c.701A>G (p.Tyr234Cys)
c.359+4257A>G (n.359+4257A>G)
c.173A>G (p.Tyr58Cys)
c.617A>G (p.Tyr206Cys)
 gnomAD v4
12g.20862828A>TCA384092294SLCO1B3,SLCO1B3-SLCO1B7c.701A>T (p.Tyr234Phe)
c.359+4257A>T (n.359+4257A>T)
c.173A>T (p.Tyr58Phe)
c.617A>T (p.Tyr206Phe)
12g.20862829C>ACA384092295SLCO1B3,SLCO1B3-SLCO1B7c.702C>A (p.Tyr234Ter)
c.359+4258C>A (n.359+4258C>A)
c.174C>A (p.Tyr58Ter)
c.618C>A (p.Tyr206Ter)
 gnomAD v4
12g.20862829C=CA2020845747SLCO1B3,SLCO1B3-SLCO1B7c.702C= (p.Tyr234=)
c.359+4258C= (n.359+4258C=)
c.174C= (p.Tyr58=)
c.618C= (p.Tyr206=)
12g.20862829C>GCA6475300SLCO1B3,SLCO1B3-SLCO1B7c.702C>G (p.Tyr234Ter)
c.359+4258C>G (n.359+4258C>G)
c.174C>G (p.Tyr58Ter)
c.618C>G (p.Tyr206Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.20862829C>TCA6475299SLCO1B3,SLCO1B3-SLCO1B7c.702C>T (p.Tyr234=)
c.359+4258C>T (n.359+4258C>T)
c.174C>T (p.Tyr58=)
c.618C>T (p.Tyr206=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862830G>ACA233479674SLCO1B3,SLCO1B3-SLCO1B7c.703G>A (p.Val235Met)
c.359+4259G>A (n.359+4259G>A)
c.175G>A (p.Val59Met)
c.619G>A (p.Val207Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.20862830G>CCA384092296SLCO1B3,SLCO1B3-SLCO1B7c.703G>C (p.Val235Leu)
c.359+4259G>C (n.359+4259G>C)
c.175G>C (p.Val59Leu)
c.619G>C (p.Val207Leu)
 gnomAD v4
12g.20862830G=CA2020845748SLCO1B3,SLCO1B3-SLCO1B7c.703G= (p.Val235=)
c.359+4259G= (n.359+4259G=)
c.175G= (p.Val59=)
c.619G= (p.Val207=)
12g.20862830G>TCA384092297SLCO1B3,SLCO1B3-SLCO1B7c.703G>T (p.Val235Leu)
c.359+4259G>T (n.359+4259G>T)
c.175G>T (p.Val59Leu)
c.619G>T (p.Val207Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.20862831T>ACA384092298SLCO1B3,SLCO1B3-SLCO1B7c.704T>A (p.Val235Glu)
c.359+4260T>A (n.359+4260T>A)
c.176T>A (p.Val59Glu)
c.620T>A (p.Val207Glu)
12g.20862831T>CCA384092299SLCO1B3,SLCO1B3-SLCO1B7c.704T>C (p.Val235Ala)
c.359+4260T>C (n.359+4260T>C)
c.176T>C (p.Val59Ala)
c.620T>C (p.Val207Ala)
12g.20862831T>GCA384092300SLCO1B3,SLCO1B3-SLCO1B7c.704T>G (p.Val235Gly)
c.359+4260T>G (n.359+4260T>G)
c.176T>G (p.Val59Gly)
c.620T>G (p.Val207Gly)
12g.20862838_20862844delCA2617889823SLCO1B3,SLCO1B3-SLCO1B7c.711_717del (p.Ile237MetfsTer2)
c.359+4267_359+4273del (n.359+4267_359+4273del)
c.183_189del (p.Ile61MetfsTer2)
c.627_633del (p.Ile209MetfsTer2)
 gnomAD v4
12g.20862832G>ACA478855025SLCO1B3,SLCO1B3-SLCO1B7c.705G>A (p.Val235=)
c.359+4261G>A (n.359+4261G>A)
c.177G>A (p.Val59=)
c.621G>A (p.Val207=)
 gnomAD v4
12g.20862832G>CCA478855026SLCO1B3,SLCO1B3-SLCO1B7c.705G>C (p.Val235=)
c.359+4261G>C (n.359+4261G>C)
c.177G>C (p.Val59=)
c.621G>C (p.Val207=)
12g.20862832G>TCA478855027SLCO1B3,SLCO1B3-SLCO1B7c.705G>T (p.Val235=)
c.359+4261G>T (n.359+4261G>T)
c.177G>T (p.Val59=)
c.621G>T (p.Val207=)
12g.20862832_20862833delCA2617889827SLCO1B3,SLCO1B3-SLCO1B7c.705_706del (p.Asp236TyrfsTer14)
c.359+4261_359+4262del (n.359+4261_359+4262del)
c.177_178del (p.Asp60TyrfsTer14)
c.621_622del (p.Asp208TyrfsTer14)
 gnomAD v4
12g.20862833G>ACA384092302SLCO1B3,SLCO1B3-SLCO1B7c.706G>A (p.Asp236Asn)
c.359+4262G>A (n.359+4262G>A)
c.178G>A (p.Asp60Asn)
c.622G>A (p.Asp208Asn)
12g.20862833G>CCA384092303SLCO1B3,SLCO1B3-SLCO1B7c.706G>C (p.Asp236His)
c.359+4262G>C (n.359+4262G>C)
c.178G>C (p.Asp60His)
c.622G>C (p.Asp208His)
12g.20862833G=CA2020845749SLCO1B3,SLCO1B3-SLCO1B7c.706G= (p.Asp236=)
c.359+4262G= (n.359+4262G=)
c.178G= (p.Asp60=)
c.622G= (p.Asp208=)
12g.20862833G>TCA384092301SLCO1B3,SLCO1B3-SLCO1B7c.706G>T (p.Asp236Tyr)
c.359+4262G>T (n.359+4262G>T)
c.178G>T (p.Asp60Tyr)
c.622G>T (p.Asp208Tyr)
 dbSNP gnomAD v4
12g.20862834A>CCA384092304SLCO1B3,SLCO1B3-SLCO1B7c.707A>C (p.Asp236Ala)
c.359+4263A>C (n.359+4263A>C)
c.179A>C (p.Asp60Ala)
c.623A>C (p.Asp208Ala)
12g.20862834A>GCA384092305SLCO1B3,SLCO1B3-SLCO1B7c.707A>G (p.Asp236Gly)
c.359+4263A>G (n.359+4263A>G)
c.179A>G (p.Asp60Gly)
c.623A>G (p.Asp208Gly)
12g.20862834A>TCA384092306SLCO1B3,SLCO1B3-SLCO1B7c.707A>T (p.Asp236Val)
c.359+4263A>T (n.359+4263A>T)
c.179A>T (p.Asp60Val)
c.623A>T (p.Asp208Val)
12g.20862835T>ACA384092307SLCO1B3,SLCO1B3-SLCO1B7c.708T>A (p.Asp236Glu)
c.359+4264T>A (n.359+4264T>A)
c.180T>A (p.Asp60Glu)
c.624T>A (p.Asp208Glu)
12g.20862835T>CCA478855028SLCO1B3,SLCO1B3-SLCO1B7c.708T>C (p.Asp236=)
c.359+4264T>C (n.359+4264T>C)
c.180T>C (p.Asp60=)
c.624T>C (p.Asp208=)
12g.20862835T>GCA384092308SLCO1B3,SLCO1B3-SLCO1B7c.708T>G (p.Asp236Glu)
c.359+4264T>G (n.359+4264T>G)
c.180T>G (p.Asp60Glu)
c.624T>G (p.Asp208Glu)
12g.20862836A>CCA384092309SLCO1B3,SLCO1B3-SLCO1B7c.709A>C (p.Ile237Leu)
c.359+4265A>C (n.359+4265A>C)
c.181A>C (p.Ile61Leu)
c.625A>C (p.Ile209Leu)
12g.20862836A>GCA384092310SLCO1B3,SLCO1B3-SLCO1B7c.709A>G (p.Ile237Val)
c.359+4265A>G (n.359+4265A>G)
c.181A>G (p.Ile61Val)
c.625A>G (p.Ile209Val)
12g.20862836A>TCA384092311SLCO1B3,SLCO1B3-SLCO1B7c.709A>T (p.Ile237Phe)
c.359+4265A>T (n.359+4265A>T)
c.181A>T (p.Ile61Phe)
c.625A>T (p.Ile209Phe)
12g.20862837T>ACA384092312SLCO1B3,SLCO1B3-SLCO1B7c.710T>A (p.Ile237Asn)
c.359+4266T>A (n.359+4266T>A)
c.182T>A (p.Ile61Asn)
c.626T>A (p.Ile209Asn)
 COSMIC
12g.20862837T>CCA384092314SLCO1B3,SLCO1B3-SLCO1B7c.710T>C (p.Ile237Thr)
c.359+4266T>C (n.359+4266T>C)
c.182T>C (p.Ile61Thr)
c.626T>C (p.Ile209Thr)
 gnomAD v4
12g.20862837T>GCA384092313SLCO1B3,SLCO1B3-SLCO1B7c.710T>G (p.Ile237Ser)
c.359+4266T>G (n.359+4266T>G)
c.182T>G (p.Ile61Ser)
c.626T>G (p.Ile209Ser)
12g.20862837_20862838dupCA2617889836SLCO1B3,SLCO1B3-SLCO1B7c.710_711dup (p.Gly238LeufsTer4)
c.359+4266_359+4267dup (n.359+4266_359+4267dup)
c.182_183dup (p.Gly62LeufsTer4)
c.626_627dup (p.Gly210LeufsTer4)
 gnomAD v4
12g.20862838T>ACA478855029SLCO1B3,SLCO1B3-SLCO1B7c.711T>A (p.Ile237=)
c.359+4267T>A (n.359+4267T>A)
c.183T>A (p.Ile61=)
c.627T>A (p.Ile209=)
12g.20862838T>CCA478855030SLCO1B3,SLCO1B3-SLCO1B7c.711T>C (p.Ile237=)
c.359+4267T>C (n.359+4267T>C)
c.183T>C (p.Ile61=)
c.627T>C (p.Ile209=)
 gnomAD v4
12g.20862838T>GCA384092315SLCO1B3,SLCO1B3-SLCO1B7c.711T>G (p.Ile237Met)
c.359+4267T>G (n.359+4267T>G)
c.183T>G (p.Ile61Met)
c.627T>G (p.Ile209Met)
 dbSNP gnomAD v2 gnomAD v4
12g.20862838T=CA2020845750SLCO1B3,SLCO1B3-SLCO1B7c.711T= (p.Ile237=)
c.359+4267T= (n.359+4267T=)
c.183T= (p.Ile61=)
c.627T= (p.Ile209=)
12g.20862839G>ACA6475301SLCO1B3,SLCO1B3-SLCO1B7c.712G>A (p.Gly238Arg)
c.359+4268G>A (n.359+4268G>A)
c.184G>A (p.Gly62Arg)
c.628G>A (p.Gly210Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862839G>CCA384092316SLCO1B3,SLCO1B3-SLCO1B7c.712G>C (p.Gly238Arg)
c.359+4268G>C (n.359+4268G>C)
c.184G>C (p.Gly62Arg)
c.628G>C (p.Gly210Arg)
12g.20862839G=CA2020845751SLCO1B3,SLCO1B3-SLCO1B7c.712G= (p.Gly238=)
c.359+4268G= (n.359+4268G=)
c.184G= (p.Gly62=)
c.628G= (p.Gly210=)
12g.20862839G>TCA384092317SLCO1B3,SLCO1B3-SLCO1B7c.712G>T (p.Gly238Ter)
c.359+4268G>T (n.359+4268G>T)
c.184G>T (p.Gly62Ter)
c.628G>T (p.Gly210Ter)
12g.20862840G>ACA384092318SLCO1B3,SLCO1B3-SLCO1B7c.713G>A (p.Gly238Glu)
c.359+4269G>A (n.359+4269G>A)
c.185G>A (p.Gly62Glu)
c.629G>A (p.Gly210Glu)
12g.20862840G>CCA384092319SLCO1B3,SLCO1B3-SLCO1B7c.713G>C (p.Gly238Ala)
c.359+4269G>C (n.359+4269G>C)
c.185G>C (p.Gly62Ala)
c.629G>C (p.Gly210Ala)
 dbSNP gnomAD v2 gnomAD v4
12g.20862840G=CA2020845752SLCO1B3,SLCO1B3-SLCO1B7c.713G= (p.Gly238=)
c.359+4269G= (n.359+4269G=)
c.185G= (p.Gly62=)
c.629G= (p.Gly210=)
12g.20862840G>TCA233479677SLCO1B3,SLCO1B3-SLCO1B7c.713G>T (p.Gly238Val)
c.359+4269G>T (n.359+4269G>T)
c.185G>T (p.Gly62Val)
c.629G>T (p.Gly210Val)
 dbSNP gnomAD v3 gnomAD v4
12g.20862841A>CCA478855031SLCO1B3,SLCO1B3-SLCO1B7c.714A>C (p.Gly238=)
c.359+4270A>C (n.359+4270A>C)
c.186A>C (p.Gly62=)
c.630A>C (p.Gly210=)
12g.20862841A>GCA478855032SLCO1B3,SLCO1B3-SLCO1B7c.714A>G (p.Gly238=)
c.359+4270A>G (n.359+4270A>G)
c.186A>G (p.Gly62=)
c.630A>G (p.Gly210=)
 gnomAD v4
12g.20862841A>TCA478855033SLCO1B3,SLCO1B3-SLCO1B7c.714A>T (p.Gly238=)
c.359+4270A>T (n.359+4270A>T)
c.186A>T (p.Gly62=)
c.630A>T (p.Gly210=)
12g.20862842T>ACA384092320SLCO1B3,SLCO1B3-SLCO1B7c.715T>A (p.Tyr239Asn)
c.359+4271T>A (n.359+4271T>A)
c.187T>A (p.Tyr63Asn)
c.631T>A (p.Tyr211Asn)
12g.20862842T>CCA384092321SLCO1B3,SLCO1B3-SLCO1B7c.715T>C (p.Tyr239His)
c.359+4271T>C (n.359+4271T>C)
c.187T>C (p.Tyr63His)
c.631T>C (p.Tyr211His)
 gnomAD v4
12g.20862842T>GCA384092322SLCO1B3,SLCO1B3-SLCO1B7c.715T>G (p.Tyr239Asp)
c.359+4271T>G (n.359+4271T>G)
c.187T>G (p.Tyr63Asp)
c.631T>G (p.Tyr211Asp)
 dbSNP gnomAD v2 gnomAD v4
12g.20862842T=CA2020845753SLCO1B3,SLCO1B3-SLCO1B7c.715T= (p.Tyr239=)
c.359+4271T= (n.359+4271T=)
c.187T= (p.Tyr63=)
c.631T= (p.Tyr211=)
12g.20862843A>CCA384092323SLCO1B3,SLCO1B3-SLCO1B7c.716A>C (p.Tyr239Ser)
c.359+4272A>C (n.359+4272A>C)
c.188A>C (p.Tyr63Ser)
c.632A>C (p.Tyr211Ser)
12g.20862843A>GCA384092324SLCO1B3,SLCO1B3-SLCO1B7c.716A>G (p.Tyr239Cys)
c.359+4272A>G (n.359+4272A>G)
c.188A>G (p.Tyr63Cys)
c.632A>G (p.Tyr211Cys)
 gnomAD v3 gnomAD v4
12g.20862843A>TCA384092325SLCO1B3,SLCO1B3-SLCO1B7c.716A>T (p.Tyr239Phe)
c.359+4272A>T (n.359+4272A>T)
c.188A>T (p.Tyr63Phe)
c.632A>T (p.Tyr211Phe)
12g.20862844T>ACA384092326SLCO1B3,SLCO1B3-SLCO1B7c.717T>A (p.Tyr239Ter)
c.359+4273T>A (n.359+4273T>A)
c.189T>A (p.Tyr63Ter)
c.633T>A (p.Tyr211Ter)
12g.20862844T>CCA478855034SLCO1B3,SLCO1B3-SLCO1B7c.717T>C (p.Tyr239=)
c.359+4273T>C (n.359+4273T>C)
c.189T>C (p.Tyr63=)
c.633T>C (p.Tyr211=)
 dbSNP gnomAD v4
12g.20862844T>GCA384092327SLCO1B3,SLCO1B3-SLCO1B7c.717T>G (p.Tyr239Ter)
c.359+4273T>G (n.359+4273T>G)
c.189T>G (p.Tyr63Ter)
c.633T>G (p.Tyr211Ter)
12g.20862844T=CA2020845754SLCO1B3,SLCO1B3-SLCO1B7c.717T= (p.Tyr239=)
c.359+4273T= (n.359+4273T=)
c.189T= (p.Tyr63=)
c.633T= (p.Tyr211=)
12g.20862845G>ACA384092328SLCO1B3,SLCO1B3-SLCO1B7c.718G>A (p.Val240Ile)
c.359+4274G>A (n.359+4274G>A)
c.190G>A (p.Val64Ile)
c.634G>A (p.Val212Ile)
 gnomAD v4
12g.20862845G>CCA384092329SLCO1B3,SLCO1B3-SLCO1B7c.718G>C (p.Val240Leu)
c.359+4274G>C (n.359+4274G>C)
c.190G>C (p.Val64Leu)
c.634G>C (p.Val212Leu)
12g.20862845G>TCA384092330SLCO1B3,SLCO1B3-SLCO1B7c.718G>T (p.Val240Leu)
c.359+4274G>T (n.359+4274G>T)
c.190G>T (p.Val64Leu)
c.634G>T (p.Val212Leu)
12g.20862846T>ACA384092331SLCO1B3,SLCO1B3-SLCO1B7c.719T>A (p.Val240Glu)
c.359+4275T>A (n.359+4275T>A)
c.191T>A (p.Val64Glu)
c.635T>A (p.Val212Glu)
 gnomAD v4
12g.20862846T>CCA384092332SLCO1B3,SLCO1B3-SLCO1B7c.719T>C (p.Val240Ala)
c.359+4275T>C (n.359+4275T>C)
c.191T>C (p.Val64Ala)
c.635T>C (p.Val212Ala)
 dbSNP gnomAD v4
12g.20862846T>GCA6475302SLCO1B3,SLCO1B3-SLCO1B7c.719T>G (p.Val240Gly)
c.359+4275T>G (n.359+4275T>G)
c.191T>G (p.Val64Gly)
c.635T>G (p.Val212Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.20862846T=CA2020845755SLCO1B3,SLCO1B3-SLCO1B7c.719T= (p.Val240=)
c.359+4275T= (n.359+4275T=)
c.191T= (p.Val64=)
c.635T= (p.Val212=)
12g.20862847A>CCA478855035SLCO1B3,SLCO1B3-SLCO1B7c.720A>C (p.Val240=)
c.359+4276A>C (n.359+4276A>C)
c.192A>C (p.Val64=)
c.636A>C (p.Val212=)
12g.20862847A>GCA478855036SLCO1B3,SLCO1B3-SLCO1B7c.720A>G (p.Val240=)
c.359+4276A>G (n.359+4276A>G)
c.192A>G (p.Val64=)
c.636A>G (p.Val212=)
 gnomAD v4
12g.20862847A>TCA478855037SLCO1B3,SLCO1B3-SLCO1B7c.720A>T (p.Val240=)
c.359+4276A>T (n.359+4276A>T)
c.192A>T (p.Val64=)
c.636A>T (p.Val212=)
12g.20862848G>ACA6475303SLCO1B3,SLCO1B3-SLCO1B7c.721G>A (p.Asp241Asn)
c.359+4277G>A (n.359+4277G>A)
c.193G>A (p.Asp65Asn)
c.637G>A (p.Asp213Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.20862848G>CCA384092333SLCO1B3,SLCO1B3-SLCO1B7c.721G>C (p.Asp241His)
c.359+4277G>C (n.359+4277G>C)
c.193G>C (p.Asp65His)
c.637G>C (p.Asp213His)
 dbSNP gnomAD v2 gnomAD v4
12g.20862848G=CA2020845756SLCO1B3,SLCO1B3-SLCO1B7c.721G= (p.Asp241=)
c.359+4277G= (n.359+4277G=)
c.193G= (p.Asp65=)
c.637G= (p.Asp213=)
12g.20862848G>TCA384092334SLCO1B3,SLCO1B3-SLCO1B7c.721G>T (p.Asp241Tyr)
c.359+4277G>T (n.359+4277G>T)
c.193G>T (p.Asp65Tyr)
c.637G>T (p.Asp213Tyr)
 COSMIC
12g.20862849A=CA2020845757SLCO1B3,SLCO1B3-SLCO1B7c.722A= (p.Asp241=)
c.359+4278A= (n.359+4278A=)
c.194A= (p.Asp65=)
c.638A= (p.Asp213=)
12g.20862849A>CCA384092335SLCO1B3,SLCO1B3-SLCO1B7c.722A>C (p.Asp241Ala)
c.359+4278A>C (n.359+4278A>C)
c.194A>C (p.Asp65Ala)
c.638A>C (p.Asp213Ala)
12g.20862849A>GCA6475305SLCO1B3,SLCO1B3-SLCO1B7c.722A>G (p.Asp241Gly)
c.359+4278A>G (n.359+4278A>G)
c.194A>G (p.Asp65Gly)
c.638A>G (p.Asp213Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.20862849A>TCA6475304SLCO1B3,SLCO1B3-SLCO1B7c.722A>T (p.Asp241Val)
c.359+4278A>T (n.359+4278A>T)
c.194A>T (p.Asp65Val)
c.638A>T (p.Asp213Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862850T>ACA384092336SLCO1B3,SLCO1B3-SLCO1B7c.723T>A (p.Asp241Glu)
c.359+4279T>A (n.359+4279T>A)
c.195T>A (p.Asp65Glu)
c.639T>A (p.Asp213Glu)
12g.20862850T>CCA478855038SLCO1B3,SLCO1B3-SLCO1B7c.723T>C (p.Asp241=)
c.359+4279T>C (n.359+4279T>C)
c.195T>C (p.Asp65=)
c.639T>C (p.Asp213=)
12g.20862850T>GCA384092337SLCO1B3,SLCO1B3-SLCO1B7c.723T>G (p.Asp241Glu)
c.359+4279T>G (n.359+4279T>G)
c.195T>G (p.Asp65Glu)
c.639T>G (p.Asp213Glu)
12g.20862851C>ACA384092338SLCO1B3,SLCO1B3-SLCO1B7c.724C>A (p.Leu242Met)
c.359+4280C>A (n.359+4280C>A)
c.196C>A (p.Leu66Met)
c.640C>A (p.Leu214Met)
 dbSNP gnomAD v4
12g.20862851C=CA2020845758SLCO1B3,SLCO1B3-SLCO1B7c.724C= (p.Leu242=)
c.359+4280C= (n.359+4280C=)
c.196C= (p.Leu66=)
c.640C= (p.Leu214=)
12g.20862851C>GCA384092339SLCO1B3,SLCO1B3-SLCO1B7c.724C>G (p.Leu242Val)
c.359+4280C>G (n.359+4280C>G)
c.196C>G (p.Leu66Val)
c.640C>G (p.Leu214Val)
12g.20862851C>TCA478855039SLCO1B3,SLCO1B3-SLCO1B7c.724C>T (p.Leu242=)
c.359+4280C>T (n.359+4280C>T)
c.196C>T (p.Leu66=)
c.640C>T (p.Leu214=)
 gnomAD v4
12g.20862852T>ACA384092340SLCO1B3,SLCO1B3-SLCO1B7c.725T>A (p.Leu242Gln)
c.359+4281T>A (n.359+4281T>A)
c.197T>A (p.Leu66Gln)
c.641T>A (p.Leu214Gln)
 gnomAD v4
12g.20862852T>CCA384092341SLCO1B3,SLCO1B3-SLCO1B7c.725T>C (p.Leu242Pro)
c.359+4281T>C (n.359+4281T>C)
c.197T>C (p.Leu66Pro)
c.641T>C (p.Leu214Pro)
 gnomAD v4
12g.20862852T>GCA384092342SLCO1B3,SLCO1B3-SLCO1B7c.725T>G (p.Leu242Arg)
c.359+4281T>G (n.359+4281T>G)
c.197T>G (p.Leu66Arg)
c.641T>G (p.Leu214Arg)
12g.20862853G>ACA478855040SLCO1B3,SLCO1B3-SLCO1B7c.726G>A (p.Leu242=)
c.359+4282G>A (n.359+4282G>A)
c.198G>A (p.Leu66=)
c.642G>A (p.Leu214=)
12g.20862853G>CCA478855041SLCO1B3,SLCO1B3-SLCO1B7c.726G>C (p.Leu242=)
c.359+4282G>C (n.359+4282G>C)
c.198G>C (p.Leu66=)
c.642G>C (p.Leu214=)
 gnomAD v3 gnomAD v4
12g.20862853G>TCA478855042SLCO1B3,SLCO1B3-SLCO1B7c.726G>T (p.Leu242=)
c.359+4282G>T (n.359+4282G>T)
c.198G>T (p.Leu66=)
c.642G>T (p.Leu214=)
 gnomAD v4
12g.20862854A=CA2020845759SLCO1B3,SLCO1B3-SLCO1B7c.727A= (p.Ser243=)
c.359+4283A= (n.359+4283A=)
c.199A= (p.Ser67=)
c.643A= (p.Ser215=)
12g.20862854A>CCA6475306SLCO1B3,SLCO1B3-SLCO1B7c.727A>C (p.Ser243Arg)
c.359+4283A>C (n.359+4283A>C)
c.199A>C (p.Ser67Arg)
c.643A>C (p.Ser215Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.20862854A>GCA384092347SLCO1B3,SLCO1B3-SLCO1B7c.727A>G (p.Ser243Gly)
c.359+4283A>G (n.359+4283A>G)
c.199A>G (p.Ser67Gly)
c.643A>G (p.Ser215Gly)
 gnomAD v3 gnomAD v4
12g.20862854A>TCA384092345SLCO1B3,SLCO1B3-SLCO1B7c.727A>T (p.Ser243Cys)
c.359+4283A>T (n.359+4283A>T)
c.199A>T (p.Ser67Cys)
c.643A>T (p.Ser215Cys)
12g.20862854_20862855delinsAGCA2020845760SLCO1B3,SLCO1B3-SLCO1B7c.727_727+1delinsAG
c.359+4283_359+4284delinsAG (n.359+4283_359+4284delinsAG)
c.199_199+1delinsAG
c.643_643+1delinsAG
12g.20862855delCA645590568SLCO1B3,SLCO1B3-SLCO1B7c.727+1del (n.727+1del)
c.359+4284del (n.359+4284del)
c.199+1del (n.199+1del)
c.643+1del (n.643+1del)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.20862855G>ACA233479713SLCO1B3,SLCO1B3-SLCO1B7c.727+1G>A (n.727+1G>A)
c.359+4284G>A (n.359+4284G>A)
c.199+1G>A (n.199+1G>A)
c.643+1G>A (n.643+1G>A)
 dbSNP
12g.20862855G>CCA384092350SLCO1B3,SLCO1B3-SLCO1B7c.727+1G>C (n.727+1G>C)
c.359+4284G>C (n.359+4284G>C)
c.199+1G>C (n.199+1G>C)
c.643+1G>C (n.643+1G>C)
12g.20862855G=CA2020845761SLCO1B3,SLCO1B3-SLCO1B7c.727+1G= (n.727+1G=)
c.359+4284G= (n.359+4284G=)
c.199+1G= (n.199+1G=)
c.643+1G= (n.643+1G=)
12g.20862855G>TCA384092352SLCO1B3,SLCO1B3-SLCO1B7c.727+1G>T (n.727+1G>T)
c.359+4284G>T (n.359+4284G>T)
c.199+1G>T (n.199+1G>T)
c.643+1G>T (n.643+1G>T)
12g.20862856T>ACA384092354SLCO1B3,SLCO1B3-SLCO1B7c.727+2T>A (n.727+2T>A)
c.359+4285T>A (n.359+4285T>A)
c.199+2T>A (n.199+2T>A)
c.643+2T>A (n.643+2T>A)
 dbSNP gnomAD v3 gnomAD v4
12g.20862856T>CCA384092355SLCO1B3,SLCO1B3-SLCO1B7c.727+2T>C (n.727+2T>C)
c.359+4285T>C (n.359+4285T>C)
c.199+2T>C (n.199+2T>C)
c.643+2T>C (n.643+2T>C)
 gnomAD v4 COSMIC
12g.20862856T>GCA384092357SLCO1B3,SLCO1B3-SLCO1B7c.727+2T>G (n.727+2T>G)
c.359+4285T>G (n.359+4285T>G)
c.199+2T>G (n.199+2T>G)
c.643+2T>G (n.643+2T>G)
12g.20862856T=CA2020845762SLCO1B3,SLCO1B3-SLCO1B7c.727+2T= (n.727+2T=)
c.359+4285T= (n.359+4285T=)
c.199+2T= (n.199+2T=)
c.643+2T= (n.643+2T=)
12g.20862857A>GCA2617889912SLCO1B3,SLCO1B3-SLCO1B7c.727+3A>G (n.727+3A>G)
c.359+4286A>G (n.359+4286A>G)
c.199+3A>G (n.199+3A>G)
c.643+3A>G (n.643+3A>G)
 gnomAD v4
12g.20862857A>TCA2617889913SLCO1B3,SLCO1B3-SLCO1B7c.727+3A>T (n.727+3A>T)
c.359+4286A>T (n.359+4286A>T)
c.199+3A>T (n.199+3A>T)
c.643+3A>T (n.643+3A>T)
 gnomAD v4
12g.20862857_20862858delCA945468185SLCO1B3,SLCO1B3-SLCO1B7c.727+3_727+4del (n.727+3_727+4del)
c.359+4286_359+4287del (n.359+4286_359+4287del)
c.199+3_199+4del (n.199+3_199+4del)
c.643+3_643+4del (n.643+3_643+4del)
 gnomAD v3 gnomAD v4
12g.20862858delCA2617889911SLCO1B3,SLCO1B3-SLCO1B7c.727+4del (n.727+4del)
c.359+4287del (n.359+4287del)
c.199+4del (n.199+4del)
c.643+4del (n.643+4del)
 gnomAD v4
12g.20862858A=CA2020845763SLCO1B3,SLCO1B3-SLCO1B7c.727+4A= (n.727+4A=)
c.359+4287A= (n.359+4287A=)
c.199+4A= (n.199+4A=)
c.643+4A= (n.643+4A=)
12g.20862858A>CCA603636689SLCO1B3,SLCO1B3-SLCO1B7c.727+4A>C (n.727+4A>C)
c.359+4287A>C (n.359+4287A>C)
c.199+4A>C (n.199+4A>C)
c.643+4A>C (n.643+4A>C)
 dbSNP gnomAD v2 gnomAD v4
12g.20862858A>GCA603636690SLCO1B3,SLCO1B3-SLCO1B7c.727+4A>G (n.727+4A>G)
c.359+4287A>G (n.359+4287A>G)
c.199+4A>G (n.199+4A>G)
c.643+4A>G (n.643+4A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.20862859G>ACA2617889916SLCO1B3,SLCO1B3-SLCO1B7c.727+5G>A (n.727+5G>A)
c.359+4288G>A (n.359+4288G>A)
c.199+5G>A (n.199+5G>A)
c.643+5G>A (n.643+5G>A)
 gnomAD v4
12g.20862859_20862860insGTCGCCGCA945468186SLCO1B3,SLCO1B3-SLCO1B7c.727+5_727+6insGTCGCCG (n.727+5_727+6insGTCGCCG)
c.359+4288_359+4289insGTCGCCG (n.359+4288_359+4289insGTCGCCG)
c.199+5_199+6insGTCGCCG (n.199+5_199+6insGTCGCCG)
c.643+5_643+6insGTCGCCG (n.643+5_643+6insGTCGCCG)
 gnomAD v3 gnomAD v4
12g.20862860T>ACA2617889918SLCO1B3,SLCO1B3-SLCO1B7c.727+6T>A (n.727+6T>A)
c.359+4289T>A (n.359+4289T>A)
c.199+6T>A (n.199+6T>A)
c.643+6T>A (n.643+6T>A)
 gnomAD v4
12g.20862860T>CCA945468190SLCO1B3,SLCO1B3-SLCO1B7c.727+6T>C (n.727+6T>C)
c.359+4289T>C (n.359+4289T>C)
c.199+6T>C (n.199+6T>C)
c.643+6T>C (n.643+6T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.20862860T=CA2020845764SLCO1B3,SLCO1B3-SLCO1B7c.727+6T= (n.727+6T=)
c.359+4289T= (n.359+4289T=)
c.199+6T= (n.199+6T=)
c.643+6T= (n.643+6T=)
12g.20862861A=CA2020845765SLCO1B3,SLCO1B3-SLCO1B7c.727+7A= (n.727+7A=)
c.359+4290A= (n.359+4290A=)
c.199+7A= (n.199+7A=)
c.643+7A= (n.643+7A=)
12g.20862861A>GCA6475307SLCO1B3,SLCO1B3-SLCO1B7c.727+7A>G (n.727+7A>G)
c.359+4290A>G (n.359+4290A>G)
c.199+7A>G (n.199+7A>G)
c.643+7A>G (n.643+7A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862862C>ACA6475308SLCO1B3,SLCO1B3-SLCO1B7c.727+8C>A (n.727+8C>A)
c.359+4291C>A (n.359+4291C>A)
c.199+8C>A (n.199+8C>A)
c.643+8C>A (n.643+8C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862862C=CA2020845766SLCO1B3,SLCO1B3-SLCO1B7c.727+8C= (n.727+8C=)
c.359+4291C= (n.359+4291C=)
c.199+8C= (n.199+8C=)
c.643+8C= (n.643+8C=)
12g.20862862C>TCA6475309SLCO1B3,SLCO1B3-SLCO1B7c.727+8C>T (n.727+8C>T)
c.359+4291C>T (n.359+4291C>T)
c.199+8C>T (n.199+8C>T)
c.643+8C>T (n.643+8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862863A>CCA945468196SLCO1B3,SLCO1B3-SLCO1B7c.727+9A>C (n.727+9A>C)
c.359+4292A>C (n.359+4292A>C)
c.199+9A>C (n.199+9A>C)
c.643+9A>C (n.643+9A>C)
 gnomAD v3 gnomAD v4
12g.20862864A=CA2020845767SLCO1B3,SLCO1B3-SLCO1B7c.727+10A= (n.727+10A=)
c.359+4293A= (n.359+4293A=)
c.199+10A= (n.199+10A=)
c.643+10A= (n.643+10A=)
12g.20862864A>CCA603636695SLCO1B3,SLCO1B3-SLCO1B7c.727+10A>C (n.727+10A>C)
c.359+4293A>C (n.359+4293A>C)
c.199+10A>C (n.199+10A>C)
c.643+10A>C (n.643+10A>C)
 dbSNP gnomAD v2 gnomAD v4
12g.20862864A>GCA6475310SLCO1B3,SLCO1B3-SLCO1B7c.727+10A>G (n.727+10A>G)
c.359+4293A>G (n.359+4293A>G)
c.199+10A>G (n.199+10A>G)
c.643+10A>G (n.643+10A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862864A>TCA2794792442SLCO1B3,SLCO1B3-SLCO1B7c.727+10A>T (n.727+10A>T)
c.359+4293A>T (n.359+4293A>T)
c.199+10A>T (n.199+10A>T)
c.643+10A>T (n.643+10A>T)
12g.20862865T>ACA6475311SLCO1B3,SLCO1B3-SLCO1B7c.727+11T>A (n.727+11T>A)
c.359+4294T>A (n.359+4294T>A)
c.199+11T>A (n.199+11T>A)
c.643+11T>A (n.643+11T>A)
 dbSNP ExAC gnomAD v2
12g.20862865T=CA2020845768SLCO1B3,SLCO1B3-SLCO1B7c.727+11T= (n.727+11T=)
c.359+4294T= (n.359+4294T=)
c.199+11T= (n.199+11T=)
c.643+11T= (n.643+11T=)
12g.20862866T>CCA603636698SLCO1B3,SLCO1B3-SLCO1B7c.727+12T>C (n.727+12T>C)
c.359+4295T>C (n.359+4295T>C)
c.199+12T>C (n.199+12T>C)
c.643+12T>C (n.643+12T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.20862866T>GCA6475312SLCO1B3,SLCO1B3-SLCO1B7c.727+12T>G (n.727+12T>G)
c.359+4295T>G (n.359+4295T>G)
c.199+12T>G (n.199+12T>G)
c.643+12T>G (n.643+12T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.20862866T=CA2020845769SLCO1B3,SLCO1B3-SLCO1B7c.727+12T= (n.727+12T=)
c.359+4295T= (n.359+4295T=)
c.199+12T= (n.199+12T=)
c.643+12T= (n.643+12T=)
12g.20862867A>GCA2617889942SLCO1B3,SLCO1B3-SLCO1B7c.727+13A>G (n.727+13A>G)
c.359+4296A>G (n.359+4296A>G)
c.199+13A>G (n.199+13A>G)
c.643+13A>G (n.643+13A>G)
 gnomAD v4
12g.20862868G>ACA603636702SLCO1B3,SLCO1B3-SLCO1B7c.727+14G>A (n.727+14G>A)
c.359+4297G>A (n.359+4297G>A)
c.199+14G>A (n.199+14G>A)
c.643+14G>A (n.643+14G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.20862868G=CA2020845770SLCO1B3,SLCO1B3-SLCO1B7c.727+14G= (n.727+14G=)
c.359+4297G= (n.359+4297G=)
c.199+14G= (n.199+14G=)
c.643+14G= (n.643+14G=)
12g.20862868G>TCA2617889947SLCO1B3,SLCO1B3-SLCO1B7c.727+14G>T (n.727+14G>T)
c.359+4297G>T (n.359+4297G>T)
c.199+14G>T (n.199+14G>T)
c.643+14G>T (n.643+14G>T)
 gnomAD v4
12g.20862869A>CCA2617889950SLCO1B3,SLCO1B3-SLCO1B7c.727+15A>C (n.727+15A>C)
c.359+4298A>C (n.359+4298A>C)
c.199+15A>C (n.199+15A>C)
c.643+15A>C (n.643+15A>C)
 gnomAD v4

Number of alleles fetched