Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.9980593T>ACA356362731SLC2A9c.680A>T (p.Lys227Met)
c.593A>T (p.Lys198Met)
n.714A>T
c.284A>T (p.Lys95Met)
c.272A>T (p.Lys91Met)
c.122A>T (p.Lys41Met)
n.776A>T
c.218A>T (p.Lys73Met)
c.293A>T (p.Lys98Met)
n.853A>T
n.857A>T
4g.9980593T>CCA2857152SLC2A9c.680A>G (p.Lys227Arg)
c.593A>G (p.Lys198Arg)
n.714A>G
c.284A>G (p.Lys95Arg)
c.272A>G (p.Lys91Arg)
c.122A>G (p.Lys41Arg)
n.776A>G
c.218A>G (p.Lys73Arg)
c.293A>G (p.Lys98Arg)
n.853A>G
n.857A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.9980593T>GCA356362732SLC2A9c.680A>C (p.Lys227Thr)
c.593A>C (p.Lys198Thr)
n.714A>C
c.284A>C (p.Lys95Thr)
c.272A>C (p.Lys91Thr)
c.122A>C (p.Lys41Thr)
n.776A>C
c.218A>C (p.Lys73Thr)
c.293A>C (p.Lys98Thr)
n.853A>C
n.857A>C
4g.9980593T=CA1437785881SLC2A9c.680A= (p.Lys227=)
c.593A= (p.Lys198=)
n.714A=
c.284A= (p.Lys95=)
c.272A= (p.Lys91=)
c.122A= (p.Lys41=)
n.776A=
c.218A= (p.Lys73=)
c.293A= (p.Lys98=)
n.853A=
n.857A=
4g.9980594T>ACA356362733SLC2A9c.679A>T (p.Lys227Ter)
c.592A>T (p.Lys198Ter)
n.713A>T
c.283A>T (p.Lys95Ter)
c.271A>T (p.Lys91Ter)
c.121A>T (p.Lys41Ter)
n.775A>T
c.217A>T (p.Lys73Ter)
c.292A>T (p.Lys98Ter)
n.852A>T
n.856A>T
4g.9980594T>CCA356362735SLC2A9c.679A>G (p.Lys227Glu)
c.592A>G (p.Lys198Glu)
n.713A>G
c.283A>G (p.Lys95Glu)
c.271A>G (p.Lys91Glu)
c.121A>G (p.Lys41Glu)
n.775A>G
c.217A>G (p.Lys73Glu)
c.292A>G (p.Lys98Glu)
n.852A>G
n.856A>G
4g.9980594T>GCA356362734SLC2A9c.679A>C (p.Lys227Gln)
c.592A>C (p.Lys198Gln)
n.713A>C
c.283A>C (p.Lys95Gln)
c.271A>C (p.Lys91Gln)
c.121A>C (p.Lys41Gln)
n.775A>C
c.217A>C (p.Lys73Gln)
c.292A>C (p.Lys98Gln)
n.852A>C
n.856A>C
4g.9980595T>ACA438517518SLC2A9c.678A>T (p.Gly226=)
c.591A>T (p.Gly197=)
n.712A>T
c.282A>T (p.Gly94=)
c.270A>T (p.Gly90=)
c.120A>T (p.Gly40=)
n.774A>T
c.216A>T (p.Gly72=)
c.291A>T (p.Gly97=)
n.851A>T
n.855A>T
4g.9980595T>CCA438517520SLC2A9c.678A>G (p.Gly226=)
c.591A>G (p.Gly197=)
n.712A>G
c.282A>G (p.Gly94=)
c.270A>G (p.Gly90=)
c.120A>G (p.Gly40=)
n.774A>G
c.216A>G (p.Gly72=)
c.291A>G (p.Gly97=)
n.851A>G
n.855A>G
4g.9980595T>GCA438517522SLC2A9c.678A>C (p.Gly226=)
c.591A>C (p.Gly197=)
n.712A>C
c.282A>C (p.Gly94=)
c.270A>C (p.Gly90=)
c.120A>C (p.Gly40=)
n.774A>C
c.216A>C (p.Gly72=)
c.291A>C (p.Gly97=)
n.851A>C
n.855A>C
4g.9980596C>ACA92226398SLC2A9c.677G>T (p.Gly226Val)
c.590G>T (p.Gly197Val)
n.711G>T
c.281G>T (p.Gly94Val)
c.269G>T (p.Gly90Val)
c.119G>T (p.Gly40Val)
n.773G>T
c.215G>T (p.Gly72Val)
c.290G>T (p.Gly97Val)
n.850G>T
n.854G>T
 dbSNP gnomAD v4
4g.9980596C=CA1437785882SLC2A9c.677G= (p.Gly226=)
c.590G= (p.Gly197=)
n.711G=
c.281G= (p.Gly94=)
c.269G= (p.Gly90=)
c.119G= (p.Gly40=)
n.773G=
c.215G= (p.Gly72=)
c.290G= (p.Gly97=)
n.850G=
n.854G=
4g.9980596C>GCA356362737SLC2A9c.677G>C (p.Gly226Ala)
c.590G>C (p.Gly197Ala)
n.711G>C
c.281G>C (p.Gly94Ala)
c.269G>C (p.Gly90Ala)
c.119G>C (p.Gly40Ala)
n.773G>C
c.215G>C (p.Gly72Ala)
c.290G>C (p.Gly97Ala)
n.850G>C
n.854G>C
4g.9980596C>TCA356362736SLC2A9c.677G>A (p.Gly226Glu)
c.590G>A (p.Gly197Glu)
n.711G>A
c.281G>A (p.Gly94Glu)
c.269G>A (p.Gly90Glu)
c.119G>A (p.Gly40Glu)
n.773G>A
c.215G>A (p.Gly72Glu)
c.290G>A (p.Gly97Glu)
n.850G>A
n.854G>A
4g.9980597C>ACA2857153SLC2A9c.676G>T (p.Gly226Ter)
c.589G>T (p.Gly197Ter)
n.710G>T
c.280G>T (p.Gly94Ter)
c.268G>T (p.Gly90Ter)
c.118G>T (p.Gly40Ter)
n.772G>T
c.214G>T (p.Gly72Ter)
c.289G>T (p.Gly97Ter)
n.849G>T
n.853G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.9980597C=CA1437785883SLC2A9c.676G= (p.Gly226=)
c.589G= (p.Gly197=)
n.710G=
c.280G= (p.Gly94=)
c.268G= (p.Gly90=)
c.118G= (p.Gly40=)
n.772G=
c.214G= (p.Gly72=)
c.289G= (p.Gly97=)
n.849G=
n.853G=
4g.9980597C>GCA356362738SLC2A9c.676G>C (p.Gly226Arg)
c.589G>C (p.Gly197Arg)
n.710G>C
c.280G>C (p.Gly94Arg)
c.268G>C (p.Gly90Arg)
c.118G>C (p.Gly40Arg)
n.772G>C
c.214G>C (p.Gly72Arg)
c.289G>C (p.Gly97Arg)
n.849G>C
n.853G>C
4g.9980597C>TCA356362739SLC2A9c.676G>A (p.Gly226Arg)
c.589G>A (p.Gly197Arg)
n.710G>A
c.280G>A (p.Gly94Arg)
c.268G>A (p.Gly90Arg)
c.118G>A (p.Gly40Arg)
n.772G>A
c.214G>A (p.Gly72Arg)
c.289G>A (p.Gly97Arg)
n.849G>A
n.853G>A
 gnomAD v4
4g.9980598C>ACA438517540SLC2A9c.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
4g.9980598C>GCA438517539SLC2A9c.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
4g.9980598C>TCA438517536SLC2A9c.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
4g.9980599A>CCA356362740SLC2A9c.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
4g.9980599A>GCA356362741SLC2A9c.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
4g.9980599A>TCA356362742SLC2A9c.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
4g.9980600G>ACA438517546SLC2A9c.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
4g.9980600G>CCA356362743SLC2A9c.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
4g.9980600G>TCA356362744SLC2A9c.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
4g.9980601C>ACA438517547SLC2A9c.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
4g.9980601C=CA1437785884SLC2A9c.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=
4g.9980601C>GCA438517548SLC2A9c.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
4g.9980601C>TCA438517549SLC2A9c.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
4g.9980601_9980602delinsCACA1437785885SLC2A9c.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
4g.9980602delCA800718309SLC2A9c.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
4g.9980602A>CCA356362745SLC2A9c.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
4g.9980602A>GCA356362746SLC2A9c.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
4g.9980602A>TCA356362747SLC2A9c.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
4g.9980603G>ACA438517550SLC2A9c.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
4g.9980603G>CCA356362748SLC2A9c.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
4g.9980603G>TCA356362749SLC2A9c.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
4g.9980604C>ACA356362750SLC2A9c.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
4g.9980604C>GCA356362751SLC2A9c.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
4g.9980604C>TCA438517551SLC2A9c.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
4g.9980605T>ACA356362752SLC2A9c.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
4g.9980605T>CCA356362753SLC2A9c.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
4g.9980605T>GCA356362754SLC2A9c.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
4g.9980606C>ACA356362755SLC2A9c.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
4g.9980606C=CA1437785886SLC2A9c.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=
4g.9980606C>GCA356362756SLC2A9c.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
4g.9980606C>TCA2857154SLC2A9c.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
4g.9980607G>ACA2857155SLC2A9c.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

Number of alleles fetched