Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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

Number of alleles fetched