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.233682127T>A | CA351083004 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44750T>A (n.855+44750T>A) c.190T>A (p.Trp64Arg) c.855+63565T>A (n.855+63565T>A) c.855+9338T>A (n.855+9338T>A) | |
| 2 | g.233682127T>C | CA351083014 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44750T>C (n.855+44750T>C) c.190T>C (p.Trp64Arg) c.855+63565T>C (n.855+63565T>C) c.855+9338T>C (n.855+9338T>C) | |
| 2 | g.233682127T>G | CA351083018 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44750T>G (n.855+44750T>G) c.190T>G (p.Trp64Gly) c.855+63565T>G (n.855+63565T>G) c.855+9338T>G (n.855+9338T>G) | |
| 2 | g.233682128G>A | CA351083022 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44751G>A (n.855+44751G>A) c.191G>A (p.Trp64Ter) c.855+63566G>A (n.855+63566G>A) c.855+9339G>A (n.855+9339G>A) | |
| 2 | g.233682128G>C | CA351083021 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44751G>C (n.855+44751G>C) c.191G>C (p.Trp64Ser) c.855+63566G>C (n.855+63566G>C) c.855+9339G>C (n.855+9339G>C) | |
| 2 | g.233682128G>T | CA351083020 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44751G>T (n.855+44751G>T) c.191G>T (p.Trp64Leu) c.855+63566G>T (n.855+63566G>T) c.855+9339G>T (n.855+9339G>T) | |
| 2 | g.233682129G>A | CA351083027 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44752G>A (n.855+44752G>A) c.192G>A (p.Trp64Ter) c.855+63567G>A (n.855+63567G>A) c.855+9340G>A (n.855+9340G>A) | ClinVar |
| 2 | g.233682129G>C | CA351083035 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44752G>C (n.855+44752G>C) c.192G>C (p.Trp64Cys) c.855+63567G>C (n.855+63567G>C) c.855+9340G>C (n.855+9340G>C) | |
| 2 | g.233682129G>T | CA351083032 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44752G>T (n.855+44752G>T) c.192G>T (p.Trp64Cys) c.855+63567G>T (n.855+63567G>T) c.855+9340G>T (n.855+9340G>T) | |
| 2 | g.233682130C>A | CA351083043 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44753C>A (n.855+44753C>A) c.193C>A (p.Gln65Lys) c.855+63568C>A (n.855+63568C>A) c.855+9341C>A (n.855+9341C>A) | |
| 2 | g.233682130C>G | CA351083046 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44753C>G (n.855+44753C>G) c.193C>G (p.Gln65Glu) c.855+63568C>G (n.855+63568C>G) c.855+9341C>G (n.855+9341C>G) | |
| 2 | g.233682130C>T | CA351083044 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44753C>T (n.855+44753C>T) c.193C>T (p.Gln65Ter) c.855+63568C>T (n.855+63568C>T) c.855+9341C>T (n.855+9341C>T) | |
| 2 | g.233682131A>C | CA351083048 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44754A>C (n.855+44754A>C) c.194A>C (p.Gln65Pro) c.855+63569A>C (n.855+63569A>C) c.855+9342A>C (n.855+9342A>C) | |
| 2 | g.233682131A>G | CA351083051 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44754A>G (n.855+44754A>G) c.194A>G (p.Gln65Arg) c.855+63569A>G (n.855+63569A>G) c.855+9342A>G (n.855+9342A>G) | |
| 2 | g.233682131A>T | CA351083053 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44754A>T (n.855+44754A>T) c.194A>T (p.Gln65Leu) c.855+63569A>T (n.855+63569A>T) c.855+9342A>T (n.855+9342A>T) | |
| 2 | g.233682132A= | CA1335855839 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44755A= (n.855+44755A=) c.195A= (p.Gln65=) c.855+63570A= (n.855+63570A=) c.855+9343A= (n.855+9343A=) | |
| 2 | g.233682132A>C | CA351083061 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44755A>C (n.855+44755A>C) c.195A>C (p.Gln65His) c.855+63570A>C (n.855+63570A>C) c.855+9343A>C (n.855+9343A>C) | |
| 2 | g.233682132A>G | CA2178217 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44755A>G (n.855+44755A>G) c.195A>G (p.Gln65=) c.855+63570A>G (n.855+63570A>G) c.855+9343A>G (n.855+9343A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233682132A>T | CA351083067 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44755A>T (n.855+44755A>T) c.195A>T (p.Gln65His) c.855+63570A>T (n.855+63570A>T) c.855+9343A>T (n.855+9343A>T) | |
| 2 | g.233682133C>A | CA351083069 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44756C>A (n.855+44756C>A) c.196C>A (p.Leu66Met) c.855+63571C>A (n.855+63571C>A) c.855+9344C>A (n.855+9344C>A) | |
| 2 | g.233682133C>G | CA351083070 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44756C>G (n.855+44756C>G) c.196C>G (p.Leu66Val) c.855+63571C>G (n.855+63571C>G) c.855+9344C>G (n.855+9344C>G) | |
| 2 | g.233682133C>T | CA431957768 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44756C>T (n.855+44756C>T) c.196C>T (p.Leu66=) c.855+63571C>T (n.855+63571C>T) c.855+9344C>T (n.855+9344C>T) | |
| 2 | g.233682134T>A | CA67617982 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44757T>A (n.855+44757T>A) c.197T>A (p.Leu66Gln) c.855+63572T>A (n.855+63572T>A) c.855+9345T>A (n.855+9345T>A) | dbSNP |
| 2 | g.233682134T>C | CA351083088 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44757T>C (n.855+44757T>C) c.197T>C (p.Leu66Pro) c.855+63572T>C (n.855+63572T>C) c.855+9345T>C (n.855+9345T>C) | |
| 2 | g.233682134T>G | CA351083091 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44757T>G (n.855+44757T>G) c.197T>G (p.Leu66Arg) c.855+63572T>G (n.855+63572T>G) c.855+9345T>G (n.855+9345T>G) | |
| 2 | g.233682134T= | CA1335855840 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44757T= (n.855+44757T=) c.197T= (p.Leu66=) c.855+63572T= (n.855+63572T=) c.855+9345T= (n.855+9345T=) | |
| 2 | g.233682135G>A | CA431957770 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44758G>A (n.855+44758G>A) c.198G>A (p.Leu66=) c.855+63573G>A (n.855+63573G>A) c.855+9346G>A (n.855+9346G>A) | |
| 2 | g.233682135G>C | CA431957771 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44758G>C (n.855+44758G>C) c.198G>C (p.Leu66=) c.855+63573G>C (n.855+63573G>C) c.855+9346G>C (n.855+9346G>C) | |
| 2 | g.233682135G= | CA1335855841 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44758G= (n.855+44758G=) c.198G= (p.Leu66=) c.855+63573G= (n.855+63573G=) c.855+9346G= (n.855+9346G=) | |
| 2 | g.233682135G>T | CA2178218 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44758G>T (n.855+44758G>T) c.198G>T (p.Leu66=) c.855+63573G>T (n.855+63573G>T) c.855+9346G>T (n.855+9346G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233682137del | CA2577284173 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44760del (n.855+44760del) c.200del (p.Gly67GlufsTer4) c.855+63575del (n.855+63575del) c.855+9348del (n.855+9348del) | |
| 2 | g.233682136G>A | CA351083096 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44759G>A (n.855+44759G>A) c.199G>A (p.Gly67Arg) c.855+63574G>A (n.855+63574G>A) c.855+9347G>A (n.855+9347G>A) | |
| 2 | g.233682136G>C | CA351083097 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44759G>C (n.855+44759G>C) c.199G>C (p.Gly67Arg) c.855+63574G>C (n.855+63574G>C) c.855+9347G>C (n.855+9347G>C) | |
| 2 | g.233682136G>T | CA351083098 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44759G>T (n.855+44759G>T) c.199G>T (p.Gly67Ter) c.855+63574G>T (n.855+63574G>T) c.855+9347G>T (n.855+9347G>T) | |
| 2 | g.233682137G>A | CA351083106 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44760G>A (n.855+44760G>A) c.200G>A (p.Gly67Glu) c.855+63575G>A (n.855+63575G>A) c.855+9348G>A (n.855+9348G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233682137G>C | CA351083108 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44760G>C (n.855+44760G>C) c.200G>C (p.Gly67Ala) c.855+63575G>C (n.855+63575G>C) c.855+9348G>C (n.855+9348G>C) | |
| 2 | g.233682137G= | CA1335855842 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44760G= (n.855+44760G=) c.200G= (p.Gly67=) c.855+63575G= (n.855+63575G=) c.855+9348G= (n.855+9348G=) | |
| 2 | g.233682137G>T | CA351083109 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44760G>T (n.855+44760G>T) c.200G>T (p.Gly67Val) c.855+63575G>T (n.855+63575G>T) c.855+9348G>T (n.855+9348G>T) | |
| 2 | g.233682138A= | CA1335855843 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44761A= (n.855+44761A=) c.201A= (p.Gly67=) c.855+63576A= (n.855+63576A=) c.855+9349A= (n.855+9349A=) | |
| 2 | g.233682138A>C | CA431957775 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44761A>C (n.855+44761A>C) c.201A>C (p.Gly67=) c.855+63576A>C (n.855+63576A>C) c.855+9349A>C (n.855+9349A>C) | |
| 2 | g.233682138A>G | CA431957776 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44761A>G (n.855+44761A>G) c.201A>G (p.Gly67=) c.855+63576A>G (n.855+63576A>G) c.855+9349A>G (n.855+9349A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233682138A>T | CA431957777 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44761A>T (n.855+44761A>T) c.201A>T (p.Gly67=) c.855+63576A>T (n.855+63576A>T) c.855+9349A>T (n.855+9349A>T) | |
| 2 | g.233682139A>C | CA431957778 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44762A>C (n.855+44762A>C) c.202A>C (p.Arg68=) c.855+63577A>C (n.855+63577A>C) c.855+9350A>C (n.855+9350A>C) | |
| 2 | g.233682139A>G | CA351083110 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44762A>G (n.855+44762A>G) c.202A>G (p.Arg68Gly) c.855+63577A>G (n.855+63577A>G) c.855+9350A>G (n.855+9350A>G) | |
| 2 | g.233682139A>T | CA351083111 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44762A>T (n.855+44762A>T) c.202A>T (p.Arg68Ter) c.855+63577A>T (n.855+63577A>T) c.855+9350A>T (n.855+9350A>T) | |
| 2 | g.233682140G>A | CA351083114 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44763G>A (n.855+44763G>A) c.203G>A (p.Arg68Lys) c.855+63578G>A (n.855+63578G>A) c.855+9351G>A (n.855+9351G>A) | gnomAD v4 |
| 2 | g.233682140G>C | CA351083115 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44763G>C (n.855+44763G>C) c.203G>C (p.Arg68Thr) c.855+63578G>C (n.855+63578G>C) c.855+9351G>C (n.855+9351G>C) | |
| 2 | g.233682140G= | CA1335855844 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44763G= (n.855+44763G=) c.203G= (p.Arg68=) c.855+63578G= (n.855+63578G=) c.855+9351G= (n.855+9351G=) | |
| 2 | g.233682140G>T | CA351083123 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44763G>T (n.855+44763G>T) c.203G>T (p.Arg68Ile) c.855+63578G>T (n.855+63578G>T) c.855+9351G>T (n.855+9351G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233682141A= | CA1335855845 | UGT1A10,UGT1A7,UGT1A8,UGT1A9 | c.855+44764A= (n.855+44764A=) c.204A= (p.Arg68=) c.855+63579A= (n.855+63579A=) c.855+9352A= (n.855+9352A=) |