Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233682323_233682324delinsGGCA2573051896UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44946_855+44947delinsGG (n.855+44946_855+44947delinsGG)
c.386_387delinsGG (p.Asn129Arg)
c.855+63761_855+63762delinsGG (n.855+63761_855+63762delinsGG)
c.855+9534_855+9535delinsGG (n.855+9534_855+9535delinsGG)
ClinVar dbSNP
2g.233682324T>ACA351085476UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44947T>A (n.855+44947T>A)
c.387T>A (p.Asn129Lys)
c.855+63762T>A (n.855+63762T>A)
c.855+9535T>A (n.855+9535T>A)
dbSNP gnomAD v3 gnomAD v4
2g.233682324T>CCA431957609UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44947T>C (n.855+44947T>C)
c.387T>C (p.Asn129=)
c.855+63762T>C (n.855+63762T>C)
c.855+9535T>C (n.855+9535T>C)
2g.233682324T>GCA2178266UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44947T>G (n.855+44947T>G)
c.387T>G (p.Asn129Lys)
c.855+63762T>G (n.855+63762T>G)
c.855+9535T>G (n.855+9535T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233682324T=CA1335855946UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44947T= (n.855+44947T=)
c.387T= (p.Asn129=)
c.855+63762T= (n.855+63762T=)
c.855+9535T= (n.855+9535T=)
2g.233682324_233682329delinsGGACAACA67618256UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44947_855+44952delinsGGACAA (n.855+44947_855+44952delinsGGACAA)
c.387_392delinsGGACAA (p.Asn129_Arg131delinsLysAspLys)
c.855+63762_855+63767delinsGGACAA (n.855+63762_855+63767delinsGGACAA)
c.855+9535_855+9540delinsGGACAA (n.855+9535_855+9540delinsGGACAA)
dbSNP
2g.233682324_233682329delinsTGACCGCA1335855945UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44947_855+44952delinsTGACCG (n.855+44947_855+44952delinsTGACCG)
c.387_392delinsTGACCG (p.Asn129=)
c.855+63762_855+63767delinsTGACCG (n.855+63762_855+63767delinsTGACCG)
c.855+9535_855+9540delinsTGACCG (n.855+9535_855+9540delinsTGACCG)
2g.233682325G>ACA351085494UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44948G>A (n.855+44948G>A)
c.388G>A (p.Asp130Asn)
c.855+63763G>A (n.855+63763G>A)
c.855+9536G>A (n.855+9536G>A)
gnomAD v4
2g.233682325G>CCA351085489UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44948G>C (n.855+44948G>C)
c.388G>C (p.Asp130His)
c.855+63763G>C (n.855+63763G>C)
c.855+9536G>C (n.855+9536G>C)
2g.233682325G>TCA351085487UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44948G>T (n.855+44948G>T)
c.388G>T (p.Asp130Tyr)
c.855+63763G>T (n.855+63763G>T)
c.855+9536G>T (n.855+9536G>T)
gnomAD v4 COSMIC
2g.233682326A>CCA351085498UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44949A>C (n.855+44949A>C)
c.389A>C (p.Asp130Ala)
c.855+63764A>C (n.855+63764A>C)
c.855+9537A>C (n.855+9537A>C)
2g.233682326A>GCA351085509UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44949A>G (n.855+44949A>G)
c.389A>G (p.Asp130Gly)
c.855+63764A>G (n.855+63764A>G)
c.855+9537A>G (n.855+9537A>G)
2g.233682326A>TCA351085512UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44949A>T (n.855+44949A>T)
c.389A>T (p.Asp130Val)
c.855+63764A>T (n.855+63764A>T)
c.855+9537A>T (n.855+9537A>T)
2g.233682326_233682327delinsACCA1335855947UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44949_855+44950delinsAC (n.855+44949_855+44950delinsAC)
c.389_390delinsAC (p.Asp130=)
c.855+63764_855+63765delinsAC (n.855+63764_855+63765delinsAC)
c.855+9537_855+9538delinsAC (n.855+9537_855+9538delinsAC)
2g.233682327C>ACA351085525UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44950C>A (n.855+44950C>A)
c.390C>A (p.Asp130Glu)
c.855+63765C>A (n.855+63765C>A)
c.855+9538C>A (n.855+9538C>A)
2g.233682327C>GCA351085530UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44950C>G (n.855+44950C>G)
c.390C>G (p.Asp130Glu)
c.855+63765C>G (n.855+63765C>G)
c.855+9538C>G (n.855+9538C>G)
2g.233682327C>TCA431957615UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44950C>T (n.855+44950C>T)
c.390C>T (p.Asp130=)
c.855+63765C>T (n.855+63765C>T)
c.855+9538C>T (n.855+9538C>T)
2g.233682328dupCA67618264UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44951dup (n.855+44951dup)
c.391dup (p.Arg131ProfsTer13)
c.855+63766dup (n.855+63766dup)
c.855+9539dup (n.855+9539dup)
dbSNP
2g.233682328delCA2178267UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44951del (n.855+44951del)
c.391del (p.Arg131GlufsTer3)
c.855+63766del (n.855+63766del)
c.855+9539del (n.855+9539del)
dbSNP ExAC gnomAD v2
2g.233682327_233682329delinsCCGCA1335855948UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44950_855+44952delinsCCG (n.855+44950_855+44952delinsCCG)
c.390_392delinsCCG (p.Asp130=)
c.855+63765_855+63767delinsCCG (n.855+63765_855+63767delinsCCG)
c.855+9538_855+9540delinsCCG (n.855+9538_855+9540delinsCCG)
2g.233682328C>ACA2178269UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44951C>A (n.855+44951C>A)
c.391C>A (p.Arg131=)
c.855+63766C>A (n.855+63766C>A)
c.855+9539C>A (n.855+9539C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233682328C=CA1335855950UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44951C= (n.855+44951C=)
c.391C= (p.Arg131=)
c.855+63766C= (n.855+63766C=)
c.855+9539C= (n.855+9539C=)
2g.233682328C>GCA2178271UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44951C>G (n.855+44951C>G)
c.391C>G (p.Arg131Gly)
c.855+63766C>G (n.855+63766C>G)
c.855+9539C>G (n.855+9539C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233682328C>TCA2178270UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44951C>T (n.855+44951C>T)
c.391C>T (p.Arg131Ter)
c.855+63766C>T (n.855+63766C>T)
c.855+9539C>T (n.855+9539C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233682328_233682329delCA2178268UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44951_855+44952del (n.855+44951_855+44952del)
c.391_392del (p.Arg131LysfsTer12)
c.855+63766_855+63767del (n.855+63766_855+63767del)
c.855+9539_855+9540del (n.855+9539_855+9540del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233682328_233682329delinsACA67618273UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44951_855+44952delinsA (n.855+44951_855+44952delinsA)
c.391_392delinsA (p.Arg131LysfsTer3)
c.855+63766_855+63767delinsA (n.855+63766_855+63767delinsA)
c.855+9539_855+9540delinsA (n.855+9539_855+9540delinsA)
dbSNP
2g.233682328_233682329delinsAACA67618270UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44951_855+44952delinsAA (n.855+44951_855+44952delinsAA)
c.391_392delinsAA (p.Arg131Lys)
c.855+63766_855+63767delinsAA (n.855+63766_855+63767delinsAA)
c.855+9539_855+9540delinsAA (n.855+9539_855+9540delinsAA)
ClinVar dbSNP
2g.233682328_233682329delinsCGCA1335855949UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44951_855+44952delinsCG (n.855+44951_855+44952delinsCG)
c.391_392delinsCG (p.Arg131=)
c.855+63766_855+63767delinsCG (n.855+63766_855+63767delinsCG)
c.855+9539_855+9540delinsCG (n.855+9539_855+9540delinsCG)
2g.233682329delCA916801645UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44952del (n.855+44952del)
c.392del (p.Arg131GlnfsTer3)
c.855+63767del (n.855+63767del)
c.855+9540del (n.855+9540del)
dbSNP
2g.233682329G>ACA2178272UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44952G>A (n.855+44952G>A)
c.392G>A (p.Arg131Gln)
c.855+63767G>A (n.855+63767G>A)
c.855+9540G>A (n.855+9540G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233682329G>CCA351085553UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44952G>C (n.855+44952G>C)
c.392G>C (p.Arg131Pro)
c.855+63767G>C (n.855+63767G>C)
c.855+9540G>C (n.855+9540G>C)
dbSNP gnomAD v2 gnomAD v4
2g.233682329G=CA1335855951UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44952G= (n.855+44952G=)
c.392G= (p.Arg131=)
c.855+63767G= (n.855+63767G=)
c.855+9540G= (n.855+9540G=)
2g.233682329G>TCA351085581UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44952G>T (n.855+44952G>T)
c.392G>T (p.Arg131Leu)
c.855+63767G>T (n.855+63767G>T)
c.855+9540G>T (n.855+9540G>T)
2g.233682329delinsAACA67618285UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44952delinsAA (n.855+44952delinsAA)
c.392delinsAA (p.Arg131GlnfsTer13)
c.855+63767delinsAA (n.855+63767delinsAA)
c.855+9540delinsAA (n.855+9540delinsAA)
dbSNP
2g.233682330A>CCA431957627UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44953A>C (n.855+44953A>C)
c.393A>C (p.Arg131=)
c.855+63768A>C (n.855+63768A>C)
c.855+9541A>C (n.855+9541A>C)
2g.233682330A>GCA431957628UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44953A>G (n.855+44953A>G)
c.393A>G (p.Arg131=)
c.855+63768A>G (n.855+63768A>G)
c.855+9541A>G (n.855+9541A>G)
2g.233682330A>TCA431957629UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44953A>T (n.855+44953A>T)
c.393A>T (p.Arg131=)
c.855+63768A>T (n.855+63768A>T)
c.855+9541A>T (n.855+9541A>T)
2g.233682331_233682333dupCA2178273UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44954_855+44956dup (n.855+44954_855+44956dup)
c.394_396dup (p.Lys132_Leu133insLys)
c.855+63769_855+63771dup (n.855+63769_855+63771dup)
c.855+9542_855+9544dup (n.855+9542_855+9544dup)
dbSNP ExAC gnomAD v2
2g.233682331A>CCA351085588UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44954A>C (n.855+44954A>C)
c.394A>C (p.Lys132Gln)
c.855+63769A>C (n.855+63769A>C)
c.855+9542A>C (n.855+9542A>C)
2g.233682331A>GCA351085592UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44954A>G (n.855+44954A>G)
c.394A>G (p.Lys132Glu)
c.855+63769A>G (n.855+63769A>G)
c.855+9542A>G (n.855+9542A>G)
2g.233682331A>TCA351085595UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44954A>T (n.855+44954A>T)
c.394A>T (p.Lys132Ter)
c.855+63769A>T (n.855+63769A>T)
c.855+9542A>T (n.855+9542A>T)
2g.233682332A>CCA351085599UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44955A>C (n.855+44955A>C)
c.395A>C (p.Lys132Thr)
c.855+63770A>C (n.855+63770A>C)
c.855+9543A>C (n.855+9543A>C)
2g.233682332A>GCA351085600UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44955A>G (n.855+44955A>G)
c.395A>G (p.Lys132Arg)
c.855+63770A>G (n.855+63770A>G)
c.855+9543A>G (n.855+9543A>G)
2g.233682332A>TCA351085601UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44955A>T (n.855+44955A>T)
c.395A>T (p.Lys132Ile)
c.855+63770A>T (n.855+63770A>T)
c.855+9543A>T (n.855+9543A>T)
2g.233682333A>CCA351085602UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44956A>C (n.855+44956A>C)
c.396A>C (p.Lys132Asn)
c.855+63771A>C (n.855+63771A>C)
c.855+9544A>C (n.855+9544A>C)
2g.233682333A>GCA431957632UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44956A>G (n.855+44956A>G)
c.396A>G (p.Lys132=)
c.855+63771A>G (n.855+63771A>G)
c.855+9544A>G (n.855+9544A>G)
2g.233682333A>TCA351085603UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44956A>T (n.855+44956A>T)
c.396A>T (p.Lys132Asn)
c.855+63771A>T (n.855+63771A>T)
c.855+9544A>T (n.855+9544A>T)
2g.233682333_233682334insCACA2663712701UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44956_855+44957insCA (n.855+44956_855+44957insCA)
c.396_397insCA (p.Leu133HisfsTer2)
c.855+63771_855+63772insCA (n.855+63771_855+63772insCA)
c.855+9544_855+9545insCA (n.855+9544_855+9545insCA)
gnomAD v4
2g.233682334T>ACA351085604UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44957T>A (n.855+44957T>A)
c.397T>A (p.Leu133Ile)
c.855+63772T>A (n.855+63772T>A)
c.855+9545T>A (n.855+9545T>A)
2g.233682334T>CCA431957633UGT1A10,UGT1A7,UGT1A8,UGT1A9c.855+44957T>C (n.855+44957T>C)
c.397T>C (p.Leu133=)
c.855+63772T>C (n.855+63772T>C)
c.855+9545T>C (n.855+9545T>C)

Number of alleles fetched