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 |
|---|---|---|---|---|---|
| 4 | g.69098618_69098620delinsCAT | CA1466050304 | UGT2B11,UGT2B7 | c.800_802delinsCAT (p.Pro267=) c.53_55delinsCAT (p.Pro18=) n.338_340delinsCAT c.*106-93867_*106-93865delinsATG (n.*106-93867_*106-93865delinsATG) c.*380-93867_*380-93865delinsATG (n.*380-93867_*380-93865delinsATG) | |
| 4 | g.69098619_69098620delinsC | CA98844862 | UGT2B11,UGT2B7 | c.801_802delinsC (p.Tyr268IlefsTer?) c.54_55delinsC (p.Tyr19IlefsTer?) n.339_340delinsC c.*106-93867_*106-93866delinsG (n.*106-93867_*106-93866delinsG) c.*380-93867_*380-93866delinsG (n.*380-93867_*380-93866delinsG) | dbSNP |
| 4 | g.69098619_69098620delinsAT | CA1466050306 | UGT2B11,UGT2B7 | c.801_802delinsAT (p.Pro267=) c.54_55delinsAT (p.Pro18=) n.339_340delinsAT c.*106-93867_*106-93866delinsAT (n.*106-93867_*106-93866delinsAT) c.*380-93867_*380-93866delinsAT (n.*380-93867_*380-93866delinsAT) | |
| 4 | g.69098619_69098620delinsTC | CA98844870 | UGT2B11,UGT2B7 | c.801_802delinsTC (p.Tyr268His) c.54_55delinsTC (p.Tyr19His) n.339_340delinsTC c.*106-93867_*106-93866delinsGA (n.*106-93867_*106-93866delinsGA) c.*380-93867_*380-93866delinsGA (n.*380-93867_*380-93866delinsGA) | dbSNP |
| 4 | g.69098620T>A | CA357096819 | UGT2B11,UGT2B7 | c.802T>A (p.Tyr268Asn) c.55T>A (p.Tyr19Asn) n.340T>A c.*106-93867A>T (n.*106-93867A>T) c.*380-93867A>T (n.*380-93867A>T) | |
| 4 | g.69098620T>C | CA2944699 | UGT2B11,UGT2B7 | c.802T>C (p.Tyr268His) c.55T>C (p.Tyr19His) n.340T>C c.*106-93867A>G (n.*106-93867A>G) c.*380-93867A>G (n.*380-93867A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098620T>G | CA357096820 | UGT2B11,UGT2B7 | c.802T>G (p.Tyr268Asp) c.55T>G (p.Tyr19Asp) n.340T>G c.*106-93867A>C (n.*106-93867A>C) c.*380-93867A>C (n.*380-93867A>C) | |
| 4 | g.69098620T= | CA1466050307 | UGT2B11,UGT2B7 | c.802T= (p.Tyr268=) c.55T= (p.Tyr19=) n.340T= c.*106-93867A= (n.*106-93867A=) c.*380-93867A= (n.*380-93867A=) | |
| 4 | g.69098620_69098621insTC | CA2670857155 | UGT2B11,UGT2B7 | c.802_803insTC (p.Tyr268PhefsTer?) c.55_56insTC (p.Tyr19PhefsTer?) n.340_341insTC c.*106-93868_*106-93867insGA (n.*106-93868_*106-93867insGA) c.*380-93868_*380-93867insGA (n.*380-93868_*380-93867insGA) | gnomAD v4 |
| 4 | g.69098621A>C | CA357096821 | UGT2B11,UGT2B7 | c.803A>C (p.Tyr268Ser) c.56A>C (p.Tyr19Ser) n.341A>C c.*106-93868T>G (n.*106-93868T>G) c.*380-93868T>G (n.*380-93868T>G) | |
| 4 | g.69098621A>G | CA357096822 | UGT2B11,UGT2B7 | c.803A>G (p.Tyr268Cys) c.56A>G (p.Tyr19Cys) n.341A>G c.*106-93868T>C (n.*106-93868T>C) c.*380-93868T>C (n.*380-93868T>C) | |
| 4 | g.69098621A>T | CA357096823 | UGT2B11,UGT2B7 | c.803A>T (p.Tyr268Phe) c.56A>T (p.Tyr19Phe) n.341A>T c.*106-93868T>A (n.*106-93868T>A) c.*380-93868T>A (n.*380-93868T>A) | |
| 4 | g.69098622T>A | CA357096825 | UGT2B11,UGT2B7 | c.804T>A (p.Tyr268Ter) c.57T>A (p.Tyr19Ter) n.342T>A c.*106-93869A>T (n.*106-93869A>T) c.*380-93869A>T (n.*380-93869A>T) | |
| 4 | g.69098622T>C | CA439737382 | UGT2B11,UGT2B7 | c.804T>C (p.Tyr268=) c.57T>C (p.Tyr19=) n.342T>C c.*106-93869A>G (n.*106-93869A>G) c.*380-93869A>G (n.*380-93869A>G) | |
| 4 | g.69098622T>G | CA357096824 | UGT2B11,UGT2B7 | c.804T>G (p.Tyr268Ter) c.57T>G (p.Tyr19Ter) n.342T>G c.*106-93869A>C (n.*106-93869A>C) c.*380-93869A>C (n.*380-93869A>C) | |
| 4 | g.69098623C>A | CA357096826 | UGT2B11,UGT2B7 | c.805C>A (p.Pro269Thr) c.58C>A (p.Pro20Thr) n.343C>A c.*106-93870G>T (n.*106-93870G>T) c.*380-93870G>T (n.*380-93870G>T) | gnomAD v4 |
| 4 | g.69098623C= | CA1466050308 | UGT2B11,UGT2B7 | c.805C= (p.Pro269=) c.58C= (p.Pro20=) n.343C= c.*106-93870G= (n.*106-93870G=) c.*380-93870G= (n.*380-93870G=) | |
| 4 | g.69098623C>G | CA357096827 | UGT2B11,UGT2B7 | c.805C>G (p.Pro269Ala) c.58C>G (p.Pro20Ala) n.343C>G c.*106-93870G>C (n.*106-93870G>C) c.*380-93870G>C (n.*380-93870G>C) | |
| 4 | g.69098623C>T | CA357096828 | UGT2B11,UGT2B7 | c.805C>T (p.Pro269Ser) c.58C>T (p.Pro20Ser) n.343C>T c.*106-93870G>A (n.*106-93870G>A) c.*380-93870G>A (n.*380-93870G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.69098624C>A | CA357096829 | UGT2B11,UGT2B7 | c.806C>A (p.Pro269Gln) c.59C>A (p.Pro20Gln) n.344C>A c.*106-93871G>T (n.*106-93871G>T) c.*380-93871G>T (n.*380-93871G>T) | |
| 4 | g.69098624C>G | CA357096830 | UGT2B11,UGT2B7 | c.806C>G (p.Pro269Arg) c.59C>G (p.Pro20Arg) n.344C>G c.*106-93871G>C (n.*106-93871G>C) c.*380-93871G>C (n.*380-93871G>C) | |
| 4 | g.69098624C>T | CA357096831 | UGT2B11,UGT2B7 | c.806C>T (p.Pro269Leu) c.59C>T (p.Pro20Leu) n.344C>T c.*106-93871G>A (n.*106-93871G>A) c.*380-93871G>A (n.*380-93871G>A) | |
| 4 | g.69098625A>C | CA439737396 | UGT2B11,UGT2B7 | c.807A>C (p.Pro269=) c.60A>C (p.Pro20=) n.345A>C c.*106-93872T>G (n.*106-93872T>G) c.*380-93872T>G (n.*380-93872T>G) | |
| 4 | g.69098625A>G | CA439737397 | UGT2B11,UGT2B7 | c.807A>G (p.Pro269=) c.60A>G (p.Pro20=) n.345A>G c.*106-93872T>C (n.*106-93872T>C) c.*380-93872T>C (n.*380-93872T>C) | |
| 4 | g.69098625A>T | CA439737398 | UGT2B11,UGT2B7 | c.807A>T (p.Pro269=) c.60A>T (p.Pro20=) n.345A>T c.*106-93872T>A (n.*106-93872T>A) c.*380-93872T>A (n.*380-93872T>A) | |
| 4 | g.69098626C>A | CA357096833 | UGT2B11,UGT2B7 | c.808C>A (p.Leu270Ile) c.61C>A (p.Leu21Ile) n.346C>A c.*106-93873G>T (n.*106-93873G>T) c.*380-93873G>T (n.*380-93873G>T) | |
| 4 | g.69098626C= | CA1466050309 | UGT2B11,UGT2B7 | c.808C= (p.Leu270=) c.61C= (p.Leu21=) n.346C= c.*106-93873G= (n.*106-93873G=) c.*380-93873G= (n.*380-93873G=) | |
| 4 | g.69098626C>G | CA357096832 | UGT2B11,UGT2B7 | c.808C>G (p.Leu270Val) c.61C>G (p.Leu21Val) n.346C>G c.*106-93873G>C (n.*106-93873G>C) c.*380-93873G>C (n.*380-93873G>C) | |
| 4 | g.69098626C>T | CA2944700 | UGT2B11,UGT2B7 | c.808C>T (p.Leu270Phe) c.61C>T (p.Leu21Phe) n.346C>T c.*106-93873G>A (n.*106-93873G>A) c.*380-93873G>A (n.*380-93873G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098627T>A | CA357096834 | UGT2B11,UGT2B7 | c.809T>A (p.Leu270His) c.62T>A (p.Leu21His) n.347T>A c.*106-93874A>T (n.*106-93874A>T) c.*380-93874A>T (n.*380-93874A>T) | |
| 4 | g.69098627T>C | CA357096835 | UGT2B11,UGT2B7 | c.809T>C (p.Leu270Pro) c.62T>C (p.Leu21Pro) n.347T>C c.*106-93874A>G (n.*106-93874A>G) c.*380-93874A>G (n.*380-93874A>G) | |
| 4 | g.69098627T>G | CA357096836 | UGT2B11,UGT2B7 | c.809T>G (p.Leu270Arg) c.62T>G (p.Leu21Arg) n.347T>G c.*106-93874A>C (n.*106-93874A>C) c.*380-93874A>C (n.*380-93874A>C) | |
| 4 | g.69098628C>A | CA439737415 | UGT2B11,UGT2B7 | c.810C>A (p.Leu270=) c.63C>A (p.Leu21=) n.348C>A c.*106-93875G>T (n.*106-93875G>T) c.*380-93875G>T (n.*380-93875G>T) | |
| 4 | g.69098628C>G | CA439737413 | UGT2B11,UGT2B7 | c.810C>G (p.Leu270=) c.63C>G (p.Leu21=) n.348C>G c.*106-93875G>C (n.*106-93875G>C) c.*380-93875G>C (n.*380-93875G>C) | |
| 4 | g.69098628C>T | CA439737412 | UGT2B11,UGT2B7 | c.810C>T (p.Leu270=) c.63C>T (p.Leu21=) n.348C>T c.*106-93875G>A (n.*106-93875G>A) c.*380-93875G>A (n.*380-93875G>A) | |
| 4 | g.69098629T>A | CA357096837 | UGT2B11,UGT2B7 | c.811T>A (p.Leu271Ile) c.64T>A (p.Leu22Ile) n.349T>A c.*106-93876A>T (n.*106-93876A>T) c.*380-93876A>T (n.*380-93876A>T) | |
| 4 | g.69098629T>C | CA439737418 | UGT2B11,UGT2B7 | c.811T>C (p.Leu271=) c.64T>C (p.Leu22=) n.349T>C c.*106-93876A>G (n.*106-93876A>G) c.*380-93876A>G (n.*380-93876A>G) | |
| 4 | g.69098629T>G | CA357096838 | UGT2B11,UGT2B7 | c.811T>G (p.Leu271Val) c.64T>G (p.Leu22Val) n.349T>G c.*106-93876A>C (n.*106-93876A>C) c.*380-93876A>C (n.*380-93876A>C) | |
| 4 | g.69098631_69098640del | CA2670857156 | UGT2B11,UGT2B7 | c.813_822del (p.Pro272IlefsTer?) c.66_75del (p.Pro23IlefsTer?) n.351_360del c.*106-93885_*106-93876del (n.*106-93885_*106-93876del) c.*380-93885_*380-93876del (n.*380-93885_*380-93876del) | gnomAD v4 |
| 4 | g.69098630T>A | CA357096839 | UGT2B11,UGT2B7 | c.812T>A (p.Leu271Ter) c.65T>A (p.Leu22Ter) n.350T>A c.*106-93877A>T (n.*106-93877A>T) c.*380-93877A>T (n.*380-93877A>T) | |
| 4 | g.69098630T>C | CA357096841 | UGT2B11,UGT2B7 | c.812T>C (p.Leu271Ser) c.65T>C (p.Leu22Ser) n.350T>C c.*106-93877A>G (n.*106-93877A>G) c.*380-93877A>G (n.*380-93877A>G) | gnomAD v4 |
| 4 | g.69098630T>G | CA357096840 | UGT2B11,UGT2B7 | c.812T>G (p.Leu271Ter) c.65T>G (p.Leu22Ter) n.350T>G c.*106-93877A>C (n.*106-93877A>C) c.*380-93877A>C (n.*380-93877A>C) | |
| 4 | g.69098631A>C | CA357096842 | UGT2B11,UGT2B7 | c.813A>C (p.Leu271Phe) c.66A>C (p.Leu22Phe) n.351A>C c.*106-93878T>G (n.*106-93878T>G) c.*380-93878T>G (n.*380-93878T>G) | |
| 4 | g.69098631A>G | CA439737427 | UGT2B11,UGT2B7 | c.813A>G (p.Leu271=) c.66A>G (p.Leu22=) n.351A>G c.*106-93878T>C (n.*106-93878T>C) c.*380-93878T>C (n.*380-93878T>C) | gnomAD v4 |
| 4 | g.69098631A>T | CA357096843 | UGT2B11,UGT2B7 | c.813A>T (p.Leu271Phe) c.66A>T (p.Leu22Phe) n.351A>T c.*106-93878T>A (n.*106-93878T>A) c.*380-93878T>A (n.*380-93878T>A) | |
| 4 | g.69098632C>A | CA357096844 | UGT2B11,UGT2B7 | c.814C>A (p.Pro272Thr) c.67C>A (p.Pro23Thr) n.352C>A c.*106-93879G>T (n.*106-93879G>T) c.*380-93879G>T (n.*380-93879G>T) | gnomAD v4 |
| 4 | g.69098632C= | CA1466050310 | UGT2B11,UGT2B7 | c.814C= (p.Pro272=) c.67C= (p.Pro23=) n.352C= c.*106-93879G= (n.*106-93879G=) c.*380-93879G= (n.*380-93879G=) | |
| 4 | g.69098632C>G | CA357096845 | UGT2B11,UGT2B7 | c.814C>G (p.Pro272Ala) c.67C>G (p.Pro23Ala) n.352C>G c.*106-93879G>C (n.*106-93879G>C) c.*380-93879G>C (n.*380-93879G>C) | dbSNP |
| 4 | g.69098632C>T | CA2944701 | UGT2B11,UGT2B7 | c.814C>T (p.Pro272Ser) c.67C>T (p.Pro23Ser) n.352C>T c.*106-93879G>A (n.*106-93879G>A) c.*380-93879G>A (n.*380-93879G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098633C>A | CA2944702 | UGT2B11,UGT2B7 | c.815C>A (p.Pro272Gln) c.68C>A (p.Pro23Gln) n.353C>A c.*106-93880G>T (n.*106-93880G>T) c.*380-93880G>T (n.*380-93880G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |