Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233682323_233682324delinsGG | CA2573051896 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682324T>A | CA351085476 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682324T>C | CA431957609 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682324T>G | CA2178266 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682324T= | CA1335855946 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44947T= (n.855+44947T=) c.387T= (p.Asn129=) c.855+63762T= (n.855+63762T=) c.855+9535T= (n.855+9535T=) | |
2 | g.233682324_233682329delinsGGACAA | CA67618256 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682324_233682329delinsTGACCG | CA1335855945 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682325G>A | CA351085494 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682325G>C | CA351085489 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682325G>T | CA351085487 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682326A>C | CA351085498 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682326A>G | CA351085509 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682326A>T | CA351085512 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682326_233682327delinsAC | CA1335855947 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682327C>A | CA351085525 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682327C>G | CA351085530 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682327C>T | CA431957615 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682328dup | CA67618264 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44951dup (n.855+44951dup) c.391dup (p.Arg131ProfsTer13) c.855+63766dup (n.855+63766dup) c.855+9539dup (n.855+9539dup) | dbSNP |
2 | g.233682328del | CA2178267 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682327_233682329delinsCCG | CA1335855948 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682328C>A | CA2178269 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682328C= | CA1335855950 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44951C= (n.855+44951C=) c.391C= (p.Arg131=) c.855+63766C= (n.855+63766C=) c.855+9539C= (n.855+9539C=) | |
2 | g.233682328C>G | CA2178271 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682328C>T | CA2178270 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682328_233682329del | CA2178268 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682328_233682329delinsA | CA67618273 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682328_233682329delinsAA | CA67618270 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682328_233682329delinsCG | CA1335855949 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682329del | CA916801645 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44952del (n.855+44952del) c.392del (p.Arg131GlnfsTer3) c.855+63767del (n.855+63767del) c.855+9540del (n.855+9540del) | dbSNP |
2 | g.233682329G>A | CA2178272 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682329G>C | CA351085553 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682329G= | CA1335855951 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44952G= (n.855+44952G=) c.392G= (p.Arg131=) c.855+63767G= (n.855+63767G=) c.855+9540G= (n.855+9540G=) | |
2 | g.233682329G>T | CA351085581 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682329delinsAA | CA67618285 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44952delinsAA (n.855+44952delinsAA) c.392delinsAA (p.Arg131GlnfsTer13) c.855+63767delinsAA (n.855+63767delinsAA) c.855+9540delinsAA (n.855+9540delinsAA) | dbSNP |
2 | g.233682330A>C | CA431957627 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682330A>G | CA431957628 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682330A>T | CA431957629 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682331_233682333dup | CA2178273 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682331A>C | CA351085588 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682331A>G | CA351085592 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682331A>T | CA351085595 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682332A>C | CA351085599 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682332A>G | CA351085600 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682332A>T | CA351085601 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682333A>C | CA351085602 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682333A>G | CA431957632 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682333A>T | CA351085603 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682333_233682334insCA | CA2663712701 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233682334T>A | CA351085604 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233682334T>C | CA431957633 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.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) |