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 |
|---|---|---|---|---|---|
| 7 | g.33015734_33015746delinsAAGTCTCCTTGGG | CA1698574705 | NT5C3A | c.680_692delinsCCCAAGGAGACTT (p.Ser227=) c.818_830delinsCCCAAGGAGACTT (p.Ser273=) c.716_728delinsCCCAAGGAGACTT (p.Ser239=) c.833_845delinsCCCAAGGAGACTT (p.Ser278=) c.*723_*735delinsCCCAAGGAGACTT (n.*723_*735delinsCCCAAGGAGACTT) n.181_193delinsCCCAAGGAGACTT c.719_731delinsCCCAAGGAGACTT (p.Ser240=) c.694-915_694-903delinsCCCAAGGAGACTT (n.694-915_694-903delinsCCCAAGGAGACTT) c.617_629delinsCCCAAGGAGACTT (p.Ser206=) | |
| 7 | g.33015742_33015753del | CA573761111 | NT5C3A | c.680_691del (p.Ser227_Asp230del) c.818_829del (p.Ser273_Asp276del) c.716_727del (p.Ser239_Asp242del) c.833_844del (p.Ser278_Asp281del) c.*723_*734del (n.*723_*734del) n.181_192del c.719_730del (p.Ser240_Asp243del) c.694-915_694-904del (n.694-915_694-904del) c.617_628del (p.Ser206_Asp209del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33015741C>A | CA367190749 | NT5C3A | c.685G>T (p.Gly229Ter) c.823G>T (p.Gly275Ter) c.721G>T (p.Gly241Ter) c.838G>T (p.Gly280Ter) c.*728G>T (n.*728G>T) n.186G>T c.724G>T (p.Gly242Ter) c.694-910G>T (n.694-910G>T) c.622G>T (p.Gly208Ter) | |
| 7 | g.33015741C= | CA1698574708 | NT5C3A | c.685G= (p.Gly229=) c.823G= (p.Gly275=) c.721G= (p.Gly241=) c.838G= (p.Gly280=) c.*728G= (n.*728G=) n.186G= c.724G= (p.Gly242=) c.694-910G= (n.694-910G=) c.622G= (p.Gly208=) | |
| 7 | g.33015741C>G | CA116896 | NT5C3A | c.685G>C (p.Gly229Arg) c.823G>C (p.Gly275Arg) c.721G>C (p.Gly241Arg) c.838G>C (p.Gly280Arg) c.*728G>C (n.*728G>C) n.186G>C c.724G>C (p.Gly242Arg) c.694-910G>C (n.694-910G>C) c.622G>C (p.Gly208Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.33015741C>T | CA367190750 | NT5C3A | c.685G>A (p.Gly229Arg) c.823G>A (p.Gly275Arg) c.721G>A (p.Gly241Arg) c.838G>A (p.Gly280Arg) c.*728G>A (n.*728G>A) n.186G>A c.724G>A (p.Gly242Arg) c.694-910G>A (n.694-910G>A) c.622G>A (p.Gly208Arg) | gnomAD v4 |
| 7 | g.33015742T>A | CA367190751 | NT5C3A | c.684A>T (p.Gln228His) c.822A>T (p.Gln274His) c.720A>T (p.Gln240His) c.837A>T (p.Gln279His) c.*727A>T (n.*727A>T) n.185A>T c.723A>T (p.Gln241His) c.694-911A>T (n.694-911A>T) c.621A>T (p.Gln207His) | |
| 7 | g.33015742T>C | CA4213308 | NT5C3A | c.684A>G (p.Gln228=) c.822A>G (p.Gln274=) c.720A>G (p.Gln240=) c.837A>G (p.Gln279=) c.*727A>G (n.*727A>G) n.185A>G c.723A>G (p.Gln241=) c.694-911A>G (n.694-911A>G) c.621A>G (p.Gln207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33015742T>G | CA367190752 | NT5C3A | c.684A>C (p.Gln228His) c.822A>C (p.Gln274His) c.720A>C (p.Gln240His) c.837A>C (p.Gln279His) c.*727A>C (n.*727A>C) n.185A>C c.723A>C (p.Gln241His) c.694-911A>C (n.694-911A>C) c.621A>C (p.Gln207His) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33015742T= | CA1698574709 | NT5C3A | c.684A= (p.Gln228=) c.822A= (p.Gln274=) c.720A= (p.Gln240=) c.837A= (p.Gln279=) c.*727A= (n.*727A=) n.185A= c.723A= (p.Gln241=) c.694-911A= (n.694-911A=) c.621A= (p.Gln207=) | |
| 7 | g.33015743T>A | CA367190753 | NT5C3A | c.683A>T (p.Gln228Leu) c.821A>T (p.Gln274Leu) c.719A>T (p.Gln240Leu) c.836A>T (p.Gln279Leu) c.*726A>T (n.*726A>T) n.184A>T c.722A>T (p.Gln241Leu) c.694-912A>T (n.694-912A>T) c.620A>T (p.Gln207Leu) | |
| 7 | g.33015743T>C | CA367190754 | NT5C3A | c.683A>G (p.Gln228Arg) c.821A>G (p.Gln274Arg) c.719A>G (p.Gln240Arg) c.836A>G (p.Gln279Arg) c.*726A>G (n.*726A>G) n.184A>G c.722A>G (p.Gln241Arg) c.694-912A>G (n.694-912A>G) c.620A>G (p.Gln207Arg) | |
| 7 | g.33015743T>G | CA367190755 | NT5C3A | c.683A>C (p.Gln228Pro) c.821A>C (p.Gln274Pro) c.719A>C (p.Gln240Pro) c.836A>C (p.Gln279Pro) c.*726A>C (n.*726A>C) n.184A>C c.722A>C (p.Gln241Pro) c.694-912A>C (n.694-912A>C) c.620A>C (p.Gln207Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33015743T= | CA1698574710 | NT5C3A | c.683A= (p.Gln228=) c.821A= (p.Gln274=) c.719A= (p.Gln240=) c.836A= (p.Gln279=) c.*726A= (n.*726A=) n.184A= c.722A= (p.Gln241=) c.694-912A= (n.694-912A=) c.620A= (p.Gln207=) | |
| 7 | g.33015744G>A | CA367190756 | NT5C3A | c.682C>T (p.Gln228Ter) c.820C>T (p.Gln274Ter) c.718C>T (p.Gln240Ter) c.835C>T (p.Gln279Ter) c.*725C>T (n.*725C>T) n.183C>T c.721C>T (p.Gln241Ter) c.694-913C>T (n.694-913C>T) c.619C>T (p.Gln207Ter) | |
| 7 | g.33015744G>C | CA367190757 | NT5C3A | c.682C>G (p.Gln228Glu) c.820C>G (p.Gln274Glu) c.718C>G (p.Gln240Glu) c.835C>G (p.Gln279Glu) c.*725C>G (n.*725C>G) n.183C>G c.721C>G (p.Gln241Glu) c.694-913C>G (n.694-913C>G) c.619C>G (p.Gln207Glu) | |
| 7 | g.33015744G>T | CA367190758 | NT5C3A | c.682C>A (p.Gln228Lys) c.820C>A (p.Gln274Lys) c.718C>A (p.Gln240Lys) c.835C>A (p.Gln279Lys) c.*725C>A (n.*725C>A) n.183C>A c.721C>A (p.Gln241Lys) c.694-913C>A (n.694-913C>A) c.619C>A (p.Gln207Lys) | |
| 7 | g.33015745G>A | CA454341598 | NT5C3A | c.681C>T (p.Ser227=) c.819C>T (p.Ser273=) c.717C>T (p.Ser239=) c.834C>T (p.Ser278=) c.*724C>T (n.*724C>T) n.182C>T c.720C>T (p.Ser240=) c.694-914C>T (n.694-914C>T) c.618C>T (p.Ser206=) | |
| 7 | g.33015745G>C | CA454341599 | NT5C3A | c.681C>G (p.Ser227=) c.819C>G (p.Ser273=) c.717C>G (p.Ser239=) c.834C>G (p.Ser278=) c.*724C>G (n.*724C>G) n.182C>G c.720C>G (p.Ser240=) c.694-914C>G (n.694-914C>G) c.618C>G (p.Ser206=) | |
| 7 | g.33015745G>T | CA454341596 | NT5C3A | c.681C>A (p.Ser227=) c.819C>A (p.Ser273=) c.717C>A (p.Ser239=) c.834C>A (p.Ser278=) c.*724C>A (n.*724C>A) n.182C>A c.720C>A (p.Ser240=) c.694-914C>A (n.694-914C>A) c.618C>A (p.Ser206=) | |
| 7 | g.33015746G>A | CA367190759 | NT5C3A | c.680C>T (p.Ser227Phe) c.818C>T (p.Ser273Phe) c.716C>T (p.Ser239Phe) c.833C>T (p.Ser278Phe) c.*723C>T (n.*723C>T) n.181C>T c.719C>T (p.Ser240Phe) c.694-915C>T (n.694-915C>T) c.617C>T (p.Ser206Phe) | COSMIC COSMIC |
| 7 | g.33015746G>C | CA367190760 | NT5C3A | c.680C>G (p.Ser227Cys) c.818C>G (p.Ser273Cys) c.716C>G (p.Ser239Cys) c.833C>G (p.Ser278Cys) c.*723C>G (n.*723C>G) n.181C>G c.719C>G (p.Ser240Cys) c.694-915C>G (n.694-915C>G) c.617C>G (p.Ser206Cys) | gnomAD v4 |
| 7 | g.33015746G>T | CA367190761 | NT5C3A | c.680C>A (p.Ser227Tyr) c.818C>A (p.Ser273Tyr) c.716C>A (p.Ser239Tyr) c.833C>A (p.Ser278Tyr) c.*723C>A (n.*723C>A) n.181C>A c.719C>A (p.Ser240Tyr) c.694-915C>A (n.694-915C>A) c.617C>A (p.Ser206Tyr) | |
| 7 | g.33015747A>C | CA367190764 | NT5C3A | c.679T>G (p.Ser227Ala) c.817T>G (p.Ser273Ala) c.715T>G (p.Ser239Ala) c.832T>G (p.Ser278Ala) c.*722T>G (n.*722T>G) n.180T>G c.718T>G (p.Ser240Ala) c.694-916T>G (n.694-916T>G) c.616T>G (p.Ser206Ala) | |
| 7 | g.33015747A>G | CA367190763 | NT5C3A | c.679T>C (p.Ser227Pro) c.817T>C (p.Ser273Pro) c.715T>C (p.Ser239Pro) c.832T>C (p.Ser278Pro) c.*722T>C (n.*722T>C) n.180T>C c.718T>C (p.Ser240Pro) c.694-916T>C (n.694-916T>C) c.616T>C (p.Ser206Pro) | |
| 7 | g.33015747A>T | CA367190762 | NT5C3A | c.679T>A (p.Ser227Thr) c.817T>A (p.Ser273Thr) c.715T>A (p.Ser239Thr) c.832T>A (p.Ser278Thr) c.*722T>A (n.*722T>A) n.180T>A c.718T>A (p.Ser240Thr) c.694-916T>A (n.694-916T>A) c.616T>A (p.Ser206Thr) | |
| 7 | g.33015748G>A | CA4213309 | NT5C3A | c.678C>T (p.Asp226=) c.816C>T (p.Asp272=) c.714C>T (p.Asp238=) c.831C>T (p.Asp277=) c.*721C>T (n.*721C>T) n.179C>T c.717C>T (p.Asp239=) c.694-917C>T (n.694-917C>T) c.615C>T (p.Asp205=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33015748G>C | CA367190765 | NT5C3A | c.678C>G (p.Asp226Glu) c.816C>G (p.Asp272Glu) c.714C>G (p.Asp238Glu) c.831C>G (p.Asp277Glu) c.*721C>G (n.*721C>G) n.179C>G c.717C>G (p.Asp239Glu) c.694-917C>G (n.694-917C>G) c.615C>G (p.Asp205Glu) | |
| 7 | g.33015748G= | CA1698574711 | NT5C3A | c.678C= (p.Asp226=) c.816C= (p.Asp272=) c.714C= (p.Asp238=) c.831C= (p.Asp277=) c.*721C= (n.*721C=) n.179C= c.717C= (p.Asp239=) c.694-917C= (n.694-917C=) c.615C= (p.Asp205=) | |
| 7 | g.33015748G>T | CA367190766 | NT5C3A | c.678C>A (p.Asp226Glu) c.816C>A (p.Asp272Glu) c.714C>A (p.Asp238Glu) c.831C>A (p.Asp277Glu) c.*721C>A (n.*721C>A) n.179C>A c.717C>A (p.Asp239Glu) c.694-917C>A (n.694-917C>A) c.615C>A (p.Asp205Glu) | COSMIC COSMIC |
| 7 | g.33015749T>A | CA367190767 | NT5C3A | c.677A>T (p.Asp226Val) c.815A>T (p.Asp272Val) c.713A>T (p.Asp238Val) c.830A>T (p.Asp277Val) c.*720A>T (n.*720A>T) n.178A>T c.716A>T (p.Asp239Val) c.694-918A>T (n.694-918A>T) c.614A>T (p.Asp205Val) | |
| 7 | g.33015749T>C | CA367190768 | NT5C3A | c.677A>G (p.Asp226Gly) c.815A>G (p.Asp272Gly) c.713A>G (p.Asp238Gly) c.830A>G (p.Asp277Gly) c.*720A>G (n.*720A>G) n.178A>G c.716A>G (p.Asp239Gly) c.694-918A>G (n.694-918A>G) c.614A>G (p.Asp205Gly) | gnomAD v4 |
| 7 | g.33015749T>G | CA367190769 | NT5C3A | c.677A>C (p.Asp226Ala) c.815A>C (p.Asp272Ala) c.713A>C (p.Asp238Ala) c.830A>C (p.Asp277Ala) c.*720A>C (n.*720A>C) n.178A>C c.716A>C (p.Asp239Ala) c.694-918A>C (n.694-918A>C) c.614A>C (p.Asp205Ala) | |
| 7 | g.33015750C>A | CA367190770 | NT5C3A | c.676G>T (p.Asp226Tyr) c.814G>T (p.Asp272Tyr) c.712G>T (p.Asp238Tyr) c.829G>T (p.Asp277Tyr) c.*719G>T (n.*719G>T) n.177G>T c.715G>T (p.Asp239Tyr) c.694-919G>T (n.694-919G>T) c.613G>T (p.Asp205Tyr) | |
| 7 | g.33015750C>G | CA367190771 | NT5C3A | c.676G>C (p.Asp226His) c.814G>C (p.Asp272His) c.712G>C (p.Asp238His) c.829G>C (p.Asp277His) c.*719G>C (n.*719G>C) n.177G>C c.715G>C (p.Asp239His) c.694-919G>C (n.694-919G>C) c.613G>C (p.Asp205His) | |
| 7 | g.33015750C>T | CA367190772 | NT5C3A | c.676G>A (p.Asp226Asn) c.814G>A (p.Asp272Asn) c.712G>A (p.Asp238Asn) c.829G>A (p.Asp277Asn) c.*719G>A (n.*719G>A) n.177G>A c.715G>A (p.Asp239Asn) c.694-919G>A (n.694-919G>A) c.613G>A (p.Asp205Asn) | |
| 7 | g.33015751T>A | CA454341640 | NT5C3A | c.675A>T (p.Gly225=) c.813A>T (p.Gly271=) c.711A>T (p.Gly237=) c.828A>T (p.Gly276=) c.*718A>T (n.*718A>T) n.176A>T c.714A>T (p.Gly238=) c.694-920A>T (n.694-920A>T) c.612A>T (p.Gly204=) | |
| 7 | g.33015751T>C | CA454341634 | NT5C3A | c.675A>G (p.Gly225=) c.813A>G (p.Gly271=) c.711A>G (p.Gly237=) c.828A>G (p.Gly276=) c.*718A>G (n.*718A>G) n.176A>G c.714A>G (p.Gly238=) c.694-920A>G (n.694-920A>G) c.612A>G (p.Gly204=) | |
| 7 | g.33015751T>G | CA454341637 | NT5C3A | c.675A>C (p.Gly225=) c.813A>C (p.Gly271=) c.711A>C (p.Gly237=) c.828A>C (p.Gly276=) c.*718A>C (n.*718A>C) n.176A>C c.714A>C (p.Gly238=) c.694-920A>C (n.694-920A>C) c.612A>C (p.Gly204=) | |
| 7 | g.33015752C>A | CA367190773 | NT5C3A | c.674G>T (p.Gly225Val) c.812G>T (p.Gly271Val) c.710G>T (p.Gly237Val) c.827G>T (p.Gly276Val) c.*717G>T (n.*717G>T) n.175G>T c.713G>T (p.Gly238Val) c.694-921G>T (n.694-921G>T) c.611G>T (p.Gly204Val) | |
| 7 | g.33015752C>G | CA367190774 | NT5C3A | c.674G>C (p.Gly225Ala) c.812G>C (p.Gly271Ala) c.710G>C (p.Gly237Ala) c.827G>C (p.Gly276Ala) c.*717G>C (n.*717G>C) n.175G>C c.713G>C (p.Gly238Ala) c.694-921G>C (n.694-921G>C) c.611G>C (p.Gly204Ala) | |
| 7 | g.33015752C>T | CA367190775 | NT5C3A | c.674G>A (p.Gly225Glu) c.812G>A (p.Gly271Glu) c.710G>A (p.Gly237Glu) c.827G>A (p.Gly276Glu) c.*717G>A (n.*717G>A) n.175G>A c.713G>A (p.Gly238Glu) c.694-921G>A (n.694-921G>A) c.611G>A (p.Gly204Glu) | |
| 7 | g.33015753C>A | CA367190777 | NT5C3A | c.673G>T (p.Gly225Ter) c.811G>T (p.Gly271Ter) c.709G>T (p.Gly237Ter) c.826G>T (p.Gly276Ter) c.*716G>T (n.*716G>T) n.174G>T c.712G>T (p.Gly238Ter) c.694-922G>T (n.694-922G>T) c.610G>T (p.Gly204Ter) | |
| 7 | g.33015753C= | CA1698574712 | NT5C3A | c.673G= (p.Gly225=) c.811G= (p.Gly271=) c.709G= (p.Gly237=) c.826G= (p.Gly276=) c.*716G= (n.*716G=) n.174G= c.712G= (p.Gly238=) c.694-922G= (n.694-922G=) c.610G= (p.Gly204=) | |
| 7 | g.33015753C>G | CA367190776 | NT5C3A | c.673G>C (p.Gly225Arg) c.811G>C (p.Gly271Arg) c.709G>C (p.Gly237Arg) c.826G>C (p.Gly276Arg) c.*716G>C (n.*716G>C) n.174G>C c.712G>C (p.Gly238Arg) c.694-922G>C (n.694-922G>C) c.610G>C (p.Gly204Arg) | |
| 7 | g.33015753C>T | CA4213310 | NT5C3A | c.673G>A (p.Gly225Arg) c.811G>A (p.Gly271Arg) c.709G>A (p.Gly237Arg) c.826G>A (p.Gly276Arg) c.*716G>A (n.*716G>A) n.174G>A c.712G>A (p.Gly238Arg) c.694-922G>A (n.694-922G>A) c.610G>A (p.Gly204Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33015754C>A | CA454341651 | NT5C3A | c.672G>T (p.Leu224=) c.810G>T (p.Leu270=) c.708G>T (p.Leu236=) c.825G>T (p.Leu275=) c.*715G>T (n.*715G>T) n.173G>T c.711G>T (p.Leu237=) c.694-923G>T (n.694-923G>T) c.609G>T (p.Leu203=) | |
| 7 | g.33015754C>G | CA454341653 | NT5C3A | c.672G>C (p.Leu224=) c.810G>C (p.Leu270=) c.708G>C (p.Leu236=) c.825G>C (p.Leu275=) c.*715G>C (n.*715G>C) n.173G>C c.711G>C (p.Leu237=) c.694-923G>C (n.694-923G>C) c.609G>C (p.Leu203=) | |
| 7 | g.33015754C>T | CA454341656 | NT5C3A | c.672G>A (p.Leu224=) c.810G>A (p.Leu270=) c.708G>A (p.Leu236=) c.825G>A (p.Leu275=) c.*715G>A (n.*715G>A) n.173G>A c.711G>A (p.Leu237=) c.694-923G>A (n.694-923G>A) c.609G>A (p.Leu203=) | |
| 7 | g.33015755A= | CA1698574713 | NT5C3A | c.671T= (p.Leu224=) c.809T= (p.Leu270=) c.707T= (p.Leu236=) c.824T= (p.Leu275=) c.*714T= (n.*714T=) n.172T= c.710T= (p.Leu237=) c.694-924T= (n.694-924T=) c.608T= (p.Leu203=) |