WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233682227G>A | CA351083894 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44850G>A (n.855+44850G>A) c.290G>A (p.Arg97His) c.855+63665G>A (n.855+63665G>A) c.855+9438G>A (n.855+9438G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233682227G>C | CA351083939 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44850G>C (n.855+44850G>C) c.290G>C (p.Arg97Pro) c.855+63665G>C (n.855+63665G>C) c.855+9438G>C (n.855+9438G>C) | |
| 2 | g.233682227G= | CA1335855896 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44850G= (n.855+44850G=) c.290G= (p.Arg97=) c.855+63665G= (n.855+63665G=) c.855+9438G= (n.855+9438G=) | |
| 2 | g.233682227G>T | CA351083909 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44850G>T (n.855+44850G>T) c.290G>T (p.Arg97Leu) c.855+63665G>T (n.855+63665G>T) c.855+9438G>T (n.855+9438G>T) | |
| 2 | g.233682228C>A | CA2178237 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44851C>A (n.855+44851C>A) c.291C>A (p.Arg97=) c.855+63666C>A (n.855+63666C>A) c.855+9439C>A (n.855+9439C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233682228C= | CA1335855897 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44851C= (n.855+44851C=) c.291C= (p.Arg97=) c.855+63666C= (n.855+63666C=) c.855+9439C= (n.855+9439C=) | |
| 2 | g.233682228C>G | CA431958031 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44851C>G (n.855+44851C>G) c.291C>G (p.Arg97=) c.855+63666C>G (n.855+63666C>G) c.855+9439C>G (n.855+9439C>G) | |
| 2 | g.233682228C>T | CA431958028 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44851C>T (n.855+44851C>T) c.291C>T (p.Arg97=) c.855+63666C>T (n.855+63666C>T) c.855+9439C>T (n.855+9439C>T) | gnomAD v4 |
| 2 | g.233682229T>A | CA351083946 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44852T>A (n.855+44852T>A) c.292T>A (p.Trp98Arg) c.855+63667T>A (n.855+63667T>A) c.855+9440T>A (n.855+9440T>A) | |
| 2 | g.233682229T>C | CA351083947 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44852T>C (n.855+44852T>C) c.292T>C (p.Trp98Arg) c.855+63667T>C (n.855+63667T>C) c.855+9440T>C (n.855+9440T>C) | |
| 2 | g.233682229T>G | CA351083949 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44852T>G (n.855+44852T>G) c.292T>G (p.Trp98Gly) c.855+63667T>G (n.855+63667T>G) c.855+9440T>G (n.855+9440T>G) | |
| 2 | g.233682230G>A | CA351083954 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44853G>A (n.855+44853G>A) c.293G>A (p.Trp98Ter) c.855+63668G>A (n.855+63668G>A) c.855+9441G>A (n.855+9441G>A) | |
| 2 | g.233682230G>C | CA351083956 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44853G>C (n.855+44853G>C) c.293G>C (p.Trp98Ser) c.855+63668G>C (n.855+63668G>C) c.855+9441G>C (n.855+9441G>C) | |
| 2 | g.233682230G>T | CA351083958 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44853G>T (n.855+44853G>T) c.293G>T (p.Trp98Leu) c.855+63668G>T (n.855+63668G>T) c.855+9441G>T (n.855+9441G>T) | |
| 2 | g.233682231G>A | CA351083959 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44854G>A (n.855+44854G>A) c.294G>A (p.Trp98Ter) c.855+63669G>A (n.855+63669G>A) c.855+9442G>A (n.855+9442G>A) | |
| 2 | g.233682231G>C | CA351083960 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44854G>C (n.855+44854G>C) c.294G>C (p.Trp98Cys) c.855+63669G>C (n.855+63669G>C) c.855+9442G>C (n.855+9442G>C) | |
| 2 | g.233682231G>T | CA351083961 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44854G>T (n.855+44854G>T) c.294G>T (p.Trp98Cys) c.855+63669G>T (n.855+63669G>T) c.855+9442G>T (n.855+9442G>T) | |
| 2 | g.233682232A= | CA1335855898 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44855A= (n.855+44855A=) c.295A= (p.Thr99=) c.855+63670A= (n.855+63670A=) c.855+9443A= (n.855+9443A=) | |
| 2 | g.233682232A>C | CA351083963 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44855A>C (n.855+44855A>C) c.295A>C (p.Thr99Pro) c.855+63670A>C (n.855+63670A>C) c.855+9443A>C (n.855+9443A>C) | |
| 2 | g.233682232A>G | CA351083965 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44855A>G (n.855+44855A>G) c.295A>G (p.Thr99Ala) c.855+63670A>G (n.855+63670A>G) c.855+9443A>G (n.855+9443A>G) | dbSNP gnomAD v4 |
| 2 | g.233682232A>T | CA351083967 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44855A>T (n.855+44855A>T) c.295A>T (p.Thr99Ser) c.855+63670A>T (n.855+63670A>T) c.855+9443A>T (n.855+9443A>T) | |
| 2 | g.233682233C>A | CA351083988 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44856C>A (n.855+44856C>A) c.296C>A (p.Thr99Lys) c.855+63671C>A (n.855+63671C>A) c.855+9444C>A (n.855+9444C>A) | |
| 2 | g.233682233C= | CA1335855899 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44856C= (n.855+44856C=) c.296C= (p.Thr99=) c.855+63671C= (n.855+63671C=) c.855+9444C= (n.855+9444C=) | |
| 2 | g.233682233C>G | CA351083989 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44856C>G (n.855+44856C>G) c.296C>G (p.Thr99Arg) c.855+63671C>G (n.855+63671C>G) c.855+9444C>G (n.855+9444C>G) | |
| 2 | g.233682233C>T | CA351083986 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44856C>T (n.855+44856C>T) c.296C>T (p.Thr99Met) c.855+63671C>T (n.855+63671C>T) c.855+9444C>T (n.855+9444C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.233682234G>A | CA2178238 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44857G>A (n.855+44857G>A) c.297G>A (p.Thr99=) c.855+63672G>A (n.855+63672G>A) c.855+9445G>A (n.855+9445G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233682234G>C | CA431958036 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44857G>C (n.855+44857G>C) c.297G>C (p.Thr99=) c.855+63672G>C (n.855+63672G>C) c.855+9445G>C (n.855+9445G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233682234G= | CA1335855900 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44857G= (n.855+44857G=) c.297G= (p.Thr99=) c.855+63672G= (n.855+63672G=) c.855+9445G= (n.855+9445G=) | |
| 2 | g.233682234G>T | CA431958038 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44857G>T (n.855+44857G>T) c.297G>T (p.Thr99=) c.855+63672G>T (n.855+63672G>T) c.855+9445G>T (n.855+9445G>T) | |
| 2 | g.233682235del | CA2663712698 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44858del (n.855+44858del) c.298del (p.Ala100HisfsTer10) c.855+63673del (n.855+63673del) c.855+9446del (n.855+9446del) | gnomAD v4 |
| 2 | g.233682235G>A | CA351083990 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44858G>A (n.855+44858G>A) c.298G>A (p.Ala100Thr) c.855+63673G>A (n.855+63673G>A) c.855+9446G>A (n.855+9446G>A) | |
| 2 | g.233682235G>C | CA351083994 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44858G>C (n.855+44858G>C) c.298G>C (p.Ala100Pro) c.855+63673G>C (n.855+63673G>C) c.855+9446G>C (n.855+9446G>C) | |
| 2 | g.233682235G>T | CA351083991 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44858G>T (n.855+44858G>T) c.298G>T (p.Ala100Ser) c.855+63673G>T (n.855+63673G>T) c.855+9446G>T (n.855+9446G>T) | |
| 2 | g.233682236C>A | CA351083995 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44859C>A (n.855+44859C>A) c.299C>A (p.Ala100Glu) c.855+63674C>A (n.855+63674C>A) c.855+9447C>A (n.855+9447C>A) | |
| 2 | g.233682236C= | CA1335855901 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44859C= (n.855+44859C=) c.299C= (p.Ala100=) c.855+63674C= (n.855+63674C=) c.855+9447C= (n.855+9447C=) | |
| 2 | g.233682236C>G | CA351083996 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44859C>G (n.855+44859C>G) c.299C>G (p.Ala100Gly) c.855+63674C>G (n.855+63674C>G) c.855+9447C>G (n.855+9447C>G) | |
| 2 | g.233682236C>T | CA2178239 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44859C>T (n.855+44859C>T) c.299C>T (p.Ala100Val) c.855+63674C>T (n.855+63674C>T) c.855+9447C>T (n.855+9447C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233682237A>C | CA431958041 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44860A>C (n.855+44860A>C) c.300A>C (p.Ala100=) c.855+63675A>C (n.855+63675A>C) c.855+9448A>C (n.855+9448A>C) | |
| 2 | g.233682237A>G | CA431958042 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44860A>G (n.855+44860A>G) c.300A>G (p.Ala100=) c.855+63675A>G (n.855+63675A>G) c.855+9448A>G (n.855+9448A>G) | |
| 2 | g.233682237A>T | CA431958043 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44860A>T (n.855+44860A>T) c.300A>T (p.Ala100=) c.855+63675A>T (n.855+63675A>T) c.855+9448A>T (n.855+9448A>T) | |
| 2 | g.233682238C>A | CA351083997 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44861C>A (n.855+44861C>A) c.301C>A (p.Pro101Thr) c.855+63676C>A (n.855+63676C>A) c.855+9449C>A (n.855+9449C>A) | |
| 2 | g.233682238C>G | CA351083999 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44861C>G (n.855+44861C>G) c.301C>G (p.Pro101Ala) c.855+63676C>G (n.855+63676C>G) c.855+9449C>G (n.855+9449C>G) | |
| 2 | g.233682238C>T | CA351084004 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44861C>T (n.855+44861C>T) c.301C>T (p.Pro101Ser) c.855+63676C>T (n.855+63676C>T) c.855+9449C>T (n.855+9449C>T) | |
| 2 | g.233682239_233682244del | CA2663712699 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44862_855+44867del (n.855+44862_855+44867del) c.302_307del (p.Pro101_Leu102del) c.855+63677_855+63682del (n.855+63677_855+63682del) c.855+9450_855+9455del (n.855+9450_855+9455del) | gnomAD v4 |
| 2 | g.233682239C>A | CA351084008 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44862C>A (n.855+44862C>A) c.302C>A (p.Pro101Gln) c.855+63677C>A (n.855+63677C>A) c.855+9450C>A (n.855+9450C>A) | |
| 2 | g.233682239C>G | CA351084012 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44862C>G (n.855+44862C>G) c.302C>G (p.Pro101Arg) c.855+63677C>G (n.855+63677C>G) c.855+9450C>G (n.855+9450C>G) | |
| 2 | g.233682239C>T | CA351084014 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44862C>T (n.855+44862C>T) c.302C>T (p.Pro101Leu) c.855+63677C>T (n.855+63677C>T) c.855+9450C>T (n.855+9450C>T) | |
| 2 | g.233682240A>C | CA431958046 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44863A>C (n.855+44863A>C) c.303A>C (p.Pro101=) c.855+63678A>C (n.855+63678A>C) c.855+9451A>C (n.855+9451A>C) | |
| 2 | g.233682240A>G | CA431958048 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44863A>G (n.855+44863A>G) c.303A>G (p.Pro101=) c.855+63678A>G (n.855+63678A>G) c.855+9451A>G (n.855+9451A>G) | |
| 2 | g.233682240A>T | CA431958047 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44863A>T (n.855+44863A>T) c.303A>T (p.Pro101=) c.855+63678A>T (n.855+63678A>T) c.855+9451A>T (n.855+9451A>T) |