UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.9980598C>A | CA438517540 | SLC2A9 | c.675G>T (p.Leu225=) c.588G>T (p.Leu196=) n.709G>T c.279G>T (p.Leu93=) c.267G>T (p.Leu89=) c.117G>T (p.Leu39=) n.771G>T c.213G>T (p.Leu71=) c.288G>T (p.Leu96=) n.848G>T n.852G>T | |
| 4 | g.9980598C>G | CA438517539 | SLC2A9 | c.675G>C (p.Leu225=) c.588G>C (p.Leu196=) n.709G>C c.279G>C (p.Leu93=) c.267G>C (p.Leu89=) c.117G>C (p.Leu39=) n.771G>C c.213G>C (p.Leu71=) c.288G>C (p.Leu96=) n.848G>C n.852G>C | |
| 4 | g.9980598C>T | CA438517536 | SLC2A9 | c.675G>A (p.Leu225=) c.588G>A (p.Leu196=) n.709G>A c.279G>A (p.Leu93=) c.267G>A (p.Leu89=) c.117G>A (p.Leu39=) n.771G>A c.213G>A (p.Leu71=) c.288G>A (p.Leu96=) n.848G>A n.852G>A | COSMIC COSMIC |
| 4 | g.9980599A>C | CA356362740 | SLC2A9 | c.674T>G (p.Leu225Arg) c.587T>G (p.Leu196Arg) n.708T>G c.278T>G (p.Leu93Arg) c.266T>G (p.Leu89Arg) c.116T>G (p.Leu39Arg) n.770T>G c.212T>G (p.Leu71Arg) c.287T>G (p.Leu96Arg) n.847T>G n.851T>G | |
| 4 | g.9980599A>G | CA356362741 | SLC2A9 | c.674T>C (p.Leu225Pro) c.587T>C (p.Leu196Pro) n.708T>C c.278T>C (p.Leu93Pro) c.266T>C (p.Leu89Pro) c.116T>C (p.Leu39Pro) n.770T>C c.212T>C (p.Leu71Pro) c.287T>C (p.Leu96Pro) n.847T>C n.851T>C | |
| 4 | g.9980599A>T | CA356362742 | SLC2A9 | c.674T>A (p.Leu225Gln) c.587T>A (p.Leu196Gln) n.708T>A c.278T>A (p.Leu93Gln) c.266T>A (p.Leu89Gln) c.116T>A (p.Leu39Gln) n.770T>A c.212T>A (p.Leu71Gln) c.287T>A (p.Leu96Gln) n.847T>A n.851T>A | |
| 4 | g.9980600G>A | CA438517546 | SLC2A9 | c.673C>T (p.Leu225=) c.586C>T (p.Leu196=) n.707C>T c.277C>T (p.Leu93=) c.265C>T (p.Leu89=) c.115C>T (p.Leu39=) n.769C>T c.211C>T (p.Leu71=) c.286C>T (p.Leu96=) n.846C>T n.850C>T | |
| 4 | g.9980600G>C | CA356362743 | SLC2A9 | c.673C>G (p.Leu225Val) c.586C>G (p.Leu196Val) n.707C>G c.277C>G (p.Leu93Val) c.265C>G (p.Leu89Val) c.115C>G (p.Leu39Val) n.769C>G c.211C>G (p.Leu71Val) c.286C>G (p.Leu96Val) n.846C>G n.850C>G | |
| 4 | g.9980600G>T | CA356362744 | SLC2A9 | c.673C>A (p.Leu225Met) c.586C>A (p.Leu196Met) n.707C>A c.277C>A (p.Leu93Met) c.265C>A (p.Leu89Met) c.115C>A (p.Leu39Met) n.769C>A c.211C>A (p.Leu71Met) c.286C>A (p.Leu96Met) n.846C>A n.850C>A | gnomAD v4 |
| 4 | g.9980601C>A | CA438517547 | SLC2A9 | c.672G>T (p.Leu224=) c.585G>T (p.Leu195=) n.706G>T c.276G>T (p.Leu92=) c.264G>T (p.Leu88=) c.114G>T (p.Leu38=) n.768G>T c.210G>T (p.Leu70=) c.285G>T (p.Leu95=) n.845G>T n.849G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.9980601C= | CA1437785884 | SLC2A9 | c.672G= (p.Leu224=) c.585G= (p.Leu195=) n.706G= c.276G= (p.Leu92=) c.264G= (p.Leu88=) c.114G= (p.Leu38=) n.768G= c.210G= (p.Leu70=) c.285G= (p.Leu95=) n.845G= n.849G= | |
| 4 | g.9980601C>G | CA438517548 | SLC2A9 | c.672G>C (p.Leu224=) c.585G>C (p.Leu195=) n.706G>C c.276G>C (p.Leu92=) c.264G>C (p.Leu88=) c.114G>C (p.Leu38=) n.768G>C c.210G>C (p.Leu70=) c.285G>C (p.Leu95=) n.845G>C n.849G>C | |
| 4 | g.9980601C>T | CA438517549 | SLC2A9 | c.672G>A (p.Leu224=) c.585G>A (p.Leu195=) n.706G>A c.276G>A (p.Leu92=) c.264G>A (p.Leu88=) c.114G>A (p.Leu38=) n.768G>A c.210G>A (p.Leu70=) c.285G>A (p.Leu95=) n.845G>A n.849G>A | gnomAD v4 |
| 4 | g.9980601_9980602delinsCA | CA1437785885 | SLC2A9 | c.671_672delinsTG (p.Leu224=) c.584_585delinsTG (p.Leu195=) n.705_706delinsTG c.275_276delinsTG (p.Leu92=) c.263_264delinsTG (p.Leu88=) c.113_114delinsTG (p.Leu38=) n.767_768delinsTG c.209_210delinsTG (p.Leu70=) c.284_285delinsTG (p.Leu95=) n.844_845delinsTG n.848_849delinsTG | |
| 4 | g.9980602del | CA800718309 | SLC2A9 | c.671del (p.Leu224ArgfsTer14) c.584del (p.Leu195ArgfsTer14) n.705del c.584del (p.Leu195ArgfsTer?) c.275del (p.Leu92ArgfsTer14) c.263del (p.Leu88ArgfsTer14) c.113del (p.Leu38ArgfsTer14) n.767del c.209del (p.Leu70ArgfsTer14) c.284del (p.Leu95ArgfsTer14) n.844del n.848del | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.9980602A>C | CA356362745 | SLC2A9 | c.671T>G (p.Leu224Arg) c.584T>G (p.Leu195Arg) n.705T>G c.275T>G (p.Leu92Arg) c.263T>G (p.Leu88Arg) c.113T>G (p.Leu38Arg) n.767T>G c.209T>G (p.Leu70Arg) c.284T>G (p.Leu95Arg) n.844T>G n.848T>G | |
| 4 | g.9980602A>G | CA356362746 | SLC2A9 | c.671T>C (p.Leu224Pro) c.584T>C (p.Leu195Pro) n.705T>C c.275T>C (p.Leu92Pro) c.263T>C (p.Leu88Pro) c.113T>C (p.Leu38Pro) n.767T>C c.209T>C (p.Leu70Pro) c.284T>C (p.Leu95Pro) n.844T>C n.848T>C | |
| 4 | g.9980602A>T | CA356362747 | SLC2A9 | c.671T>A (p.Leu224Gln) c.584T>A (p.Leu195Gln) n.705T>A c.275T>A (p.Leu92Gln) c.263T>A (p.Leu88Gln) c.113T>A (p.Leu38Gln) n.767T>A c.209T>A (p.Leu70Gln) c.284T>A (p.Leu95Gln) n.844T>A n.848T>A | |
| 4 | g.9980603G>A | CA438517550 | SLC2A9 | c.670C>T (p.Leu224=) c.583C>T (p.Leu195=) n.704C>T c.274C>T (p.Leu92=) c.262C>T (p.Leu88=) c.112C>T (p.Leu38=) n.766C>T c.208C>T (p.Leu70=) c.283C>T (p.Leu95=) n.843C>T n.847C>T | COSMIC COSMIC |
| 4 | g.9980603G>C | CA356362748 | SLC2A9 | c.670C>G (p.Leu224Val) c.583C>G (p.Leu195Val) n.704C>G c.274C>G (p.Leu92Val) c.262C>G (p.Leu88Val) c.112C>G (p.Leu38Val) n.766C>G c.208C>G (p.Leu70Val) c.283C>G (p.Leu95Val) n.843C>G n.847C>G | |
| 4 | g.9980603G>T | CA356362749 | SLC2A9 | c.670C>A (p.Leu224Met) c.583C>A (p.Leu195Met) n.704C>A c.274C>A (p.Leu92Met) c.262C>A (p.Leu88Met) c.112C>A (p.Leu38Met) n.766C>A c.208C>A (p.Leu70Met) c.283C>A (p.Leu95Met) n.843C>A n.847C>A | |
| 4 | g.9980604C>A | CA356362750 | SLC2A9 | c.669G>T (p.Glu223Asp) c.582G>T (p.Glu194Asp) n.703G>T c.273G>T (p.Glu91Asp) c.261G>T (p.Glu87Asp) c.111G>T (p.Glu37Asp) n.765G>T c.207G>T (p.Glu69Asp) c.282G>T (p.Glu94Asp) n.842G>T n.846G>T | |
| 4 | g.9980604C>G | CA356362751 | SLC2A9 | c.669G>C (p.Glu223Asp) c.582G>C (p.Glu194Asp) n.703G>C c.273G>C (p.Glu91Asp) c.261G>C (p.Glu87Asp) c.111G>C (p.Glu37Asp) n.765G>C c.207G>C (p.Glu69Asp) c.282G>C (p.Glu94Asp) n.842G>C n.846G>C | |
| 4 | g.9980604C>T | CA438517551 | SLC2A9 | c.669G>A (p.Glu223=) c.582G>A (p.Glu194=) n.703G>A c.273G>A (p.Glu91=) c.261G>A (p.Glu87=) c.111G>A (p.Glu37=) n.765G>A c.207G>A (p.Glu69=) c.282G>A (p.Glu94=) n.842G>A n.846G>A | |
| 4 | g.9980605T>A | CA356362752 | SLC2A9 | c.668A>T (p.Glu223Val) c.581A>T (p.Glu194Val) n.702A>T c.272A>T (p.Glu91Val) c.260A>T (p.Glu87Val) c.110A>T (p.Glu37Val) n.764A>T c.206A>T (p.Glu69Val) c.281A>T (p.Glu94Val) n.841A>T n.845A>T | |
| 4 | g.9980605T>C | CA356362753 | SLC2A9 | c.668A>G (p.Glu223Gly) c.581A>G (p.Glu194Gly) n.702A>G c.272A>G (p.Glu91Gly) c.260A>G (p.Glu87Gly) c.110A>G (p.Glu37Gly) n.764A>G c.206A>G (p.Glu69Gly) c.281A>G (p.Glu94Gly) n.841A>G n.845A>G | |
| 4 | g.9980605T>G | CA356362754 | SLC2A9 | c.668A>C (p.Glu223Ala) c.581A>C (p.Glu194Ala) n.702A>C c.272A>C (p.Glu91Ala) c.260A>C (p.Glu87Ala) c.110A>C (p.Glu37Ala) n.764A>C c.206A>C (p.Glu69Ala) c.281A>C (p.Glu94Ala) n.841A>C n.845A>C | gnomAD v4 |
| 4 | g.9980606C>A | CA356362755 | SLC2A9 | c.667G>T (p.Glu223Ter) c.580G>T (p.Glu194Ter) n.701G>T c.271G>T (p.Glu91Ter) c.259G>T (p.Glu87Ter) c.109G>T (p.Glu37Ter) n.763G>T c.205G>T (p.Glu69Ter) c.280G>T (p.Glu94Ter) n.840G>T n.844G>T | |
| 4 | g.9980606C= | CA1437785886 | SLC2A9 | c.667G= (p.Glu223=) c.580G= (p.Glu194=) n.701G= c.271G= (p.Glu91=) c.259G= (p.Glu87=) c.109G= (p.Glu37=) n.763G= c.205G= (p.Glu69=) c.280G= (p.Glu94=) n.840G= n.844G= | |
| 4 | g.9980606C>G | CA356362756 | SLC2A9 | c.667G>C (p.Glu223Gln) c.580G>C (p.Glu194Gln) n.701G>C c.271G>C (p.Glu91Gln) c.259G>C (p.Glu87Gln) c.109G>C (p.Glu37Gln) n.763G>C c.205G>C (p.Glu69Gln) c.280G>C (p.Glu94Gln) n.840G>C n.844G>C | |
| 4 | g.9980606C>T | CA2857154 | SLC2A9 | c.667G>A (p.Glu223Lys) c.580G>A (p.Glu194Lys) n.701G>A c.271G>A (p.Glu91Lys) c.259G>A (p.Glu87Lys) c.109G>A (p.Glu37Lys) n.763G>A c.205G>A (p.Glu69Lys) c.280G>A (p.Glu94Lys) n.840G>A n.844G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.9980607G>A | CA2857155 | SLC2A9 | c.666C>T (p.Pro222=) c.579C>T (p.Pro193=) n.700C>T c.270C>T (p.Pro90=) c.258C>T (p.Pro86=) c.108C>T (p.Pro36=) n.762C>T c.204C>T (p.Pro68=) c.279C>T (p.Pro93=) n.839C>T n.843C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.9980607G>C | CA2857156 | SLC2A9 | c.666C>G (p.Pro222=) c.579C>G (p.Pro193=) n.700C>G c.270C>G (p.Pro90=) c.258C>G (p.Pro86=) c.108C>G (p.Pro36=) n.762C>G c.204C>G (p.Pro68=) c.279C>G (p.Pro93=) n.839C>G n.843C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.9980607G= | CA1437785887 | SLC2A9 | c.666C= (p.Pro222=) c.579C= (p.Pro193=) n.700C= c.270C= (p.Pro90=) c.258C= (p.Pro86=) c.108C= (p.Pro36=) n.762C= c.204C= (p.Pro68=) c.279C= (p.Pro93=) n.839C= n.843C= | |
| 4 | g.9980607G>T | CA438517552 | SLC2A9 | c.666C>A (p.Pro222=) c.579C>A (p.Pro193=) n.700C>A c.270C>A (p.Pro90=) c.258C>A (p.Pro86=) c.108C>A (p.Pro36=) n.762C>A c.204C>A (p.Pro68=) c.279C>A (p.Pro93=) n.839C>A n.843C>A | gnomAD v4 |
| 4 | g.9980608G>A | CA356362757 | SLC2A9 | c.665C>T (p.Pro222Leu) c.578C>T (p.Pro193Leu) n.699C>T c.269C>T (p.Pro90Leu) c.257C>T (p.Pro86Leu) c.107C>T (p.Pro36Leu) n.761C>T c.203C>T (p.Pro68Leu) c.278C>T (p.Pro93Leu) n.838C>T n.842C>T | |
| 4 | g.9980608G>C | CA356362758 | SLC2A9 | c.665C>G (p.Pro222Arg) c.578C>G (p.Pro193Arg) n.699C>G c.269C>G (p.Pro90Arg) c.257C>G (p.Pro86Arg) c.107C>G (p.Pro36Arg) n.761C>G c.203C>G (p.Pro68Arg) c.278C>G (p.Pro93Arg) n.838C>G n.842C>G | |
| 4 | g.9980608G>T | CA356362759 | SLC2A9 | c.665C>A (p.Pro222His) c.578C>A (p.Pro193His) n.699C>A c.269C>A (p.Pro90His) c.257C>A (p.Pro86His) c.107C>A (p.Pro36His) n.761C>A c.203C>A (p.Pro68His) c.278C>A (p.Pro93His) n.838C>A n.842C>A | |
| 4 | g.9980609G>A | CA356362762 | SLC2A9 | c.664C>T (p.Pro222Ser) c.577C>T (p.Pro193Ser) n.698C>T c.268C>T (p.Pro90Ser) c.256C>T (p.Pro86Ser) c.106C>T (p.Pro36Ser) n.760C>T c.202C>T (p.Pro68Ser) c.277C>T (p.Pro93Ser) n.837C>T n.841C>T | gnomAD v4 |
| 4 | g.9980609G>C | CA356362761 | SLC2A9 | c.664C>G (p.Pro222Ala) c.577C>G (p.Pro193Ala) n.698C>G c.268C>G (p.Pro90Ala) c.256C>G (p.Pro86Ala) c.106C>G (p.Pro36Ala) n.760C>G c.202C>G (p.Pro68Ala) c.277C>G (p.Pro93Ala) n.837C>G n.841C>G | |
| 4 | g.9980609G>T | CA356362760 | SLC2A9 | c.664C>A (p.Pro222Thr) c.577C>A (p.Pro193Thr) n.698C>A c.268C>A (p.Pro90Thr) c.256C>A (p.Pro86Thr) c.106C>A (p.Pro36Thr) n.760C>A c.202C>A (p.Pro68Thr) c.277C>A (p.Pro93Thr) n.837C>A n.841C>A | |
| 4 | g.9980610C>A | CA438517554 | SLC2A9 | c.663G>T (p.Leu221=) c.576G>T (p.Leu192=) n.697G>T c.267G>T (p.Leu89=) c.255G>T (p.Leu85=) c.105G>T (p.Leu35=) n.759G>T c.201G>T (p.Leu67=) c.276G>T (p.Leu92=) n.836G>T n.840G>T | |
| 4 | g.9980610C= | CA1437785888 | SLC2A9 | c.663G= (p.Leu221=) c.576G= (p.Leu192=) n.697G= c.267G= (p.Leu89=) c.255G= (p.Leu85=) c.105G= (p.Leu35=) n.759G= c.201G= (p.Leu67=) c.276G= (p.Leu92=) n.836G= n.840G= | |
| 4 | g.9980610C>G | CA438517555 | SLC2A9 | c.663G>C (p.Leu221=) c.576G>C (p.Leu192=) n.697G>C c.267G>C (p.Leu89=) c.255G>C (p.Leu85=) c.105G>C (p.Leu35=) n.759G>C c.201G>C (p.Leu67=) c.276G>C (p.Leu92=) n.836G>C n.840G>C | gnomAD v4 |
| 4 | g.9980610C>T | CA438517556 | SLC2A9 | c.663G>A (p.Leu221=) c.576G>A (p.Leu192=) n.697G>A c.267G>A (p.Leu89=) c.255G>A (p.Leu85=) c.105G>A (p.Leu35=) n.759G>A c.201G>A (p.Leu67=) c.276G>A (p.Leu92=) n.836G>A n.840G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.9980611A>C | CA356362765 | SLC2A9 | c.662T>G (p.Leu221Arg) c.575T>G (p.Leu192Arg) n.696T>G c.266T>G (p.Leu89Arg) c.254T>G (p.Leu85Arg) c.104T>G (p.Leu35Arg) n.758T>G c.200T>G (p.Leu67Arg) c.275T>G (p.Leu92Arg) n.835T>G n.839T>G | gnomAD v4 |
| 4 | g.9980611A>G | CA356362763 | SLC2A9 | c.662T>C (p.Leu221Pro) c.575T>C (p.Leu192Pro) n.696T>C c.266T>C (p.Leu89Pro) c.254T>C (p.Leu85Pro) c.104T>C (p.Leu35Pro) n.758T>C c.200T>C (p.Leu67Pro) c.275T>C (p.Leu92Pro) n.835T>C n.839T>C | |
| 4 | g.9980611A>T | CA356362764 | SLC2A9 | c.662T>A (p.Leu221Gln) c.575T>A (p.Leu192Gln) n.696T>A c.266T>A (p.Leu89Gln) c.254T>A (p.Leu85Gln) c.104T>A (p.Leu35Gln) n.758T>A c.200T>A (p.Leu67Gln) c.275T>A (p.Leu92Gln) n.835T>A n.839T>A | |
| 4 | g.9980612G>A | CA438517558 | SLC2A9 | c.661C>T (p.Leu221=) c.574C>T (p.Leu192=) n.695C>T c.265C>T (p.Leu89=) c.253C>T (p.Leu85=) c.103C>T (p.Leu35=) n.757C>T c.199C>T (p.Leu67=) c.274C>T (p.Leu92=) n.834C>T n.838C>T | COSMIC COSMIC |
| 4 | g.9980612G>C | CA356362766 | SLC2A9 | c.661C>G (p.Leu221Val) c.574C>G (p.Leu192Val) n.695C>G c.265C>G (p.Leu89Val) c.253C>G (p.Leu85Val) c.103C>G (p.Leu35Val) n.757C>G c.199C>G (p.Leu67Val) c.274C>G (p.Leu92Val) n.834C>G n.838C>G |