Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.128398457C>ACA369168205IMPDH1c.923G>T (p.Arg308Leu)
n.906G>T
c.1031G>T (p.Arg344Leu)
c.663G>T
c.1001G>T (p.Arg334Leu)
c.932G>T (p.Arg311Leu)
c.796G>T
c.773G>T (p.Arg258Leu)
c.761G>T (p.Arg254Leu)
c.906G>T (n.906G>T)
c.701G>T (p.Arg234Leu)
c.824G>T (p.Arg275Leu)
c.776G>T (p.Arg259Leu)
c.800G>T (p.Arg267Leu)
c.413G>T (p.Arg138Leu)
7g.128398457C=CA1742366523IMPDH1c.923G= (p.Arg308=)
n.906G=
c.1031G= (p.Arg344=)
c.663G=
c.1001G= (p.Arg334=)
c.932G= (p.Arg311=)
c.796G=
c.773G= (p.Arg258=)
c.761G= (p.Arg254=)
c.906G= (n.906G=)
c.701G= (p.Arg234=)
c.824G= (p.Arg275=)
c.776G= (p.Arg259=)
c.800G= (p.Arg267=)
c.413G= (p.Arg138=)
7g.128398457C>GCA369168209IMPDH1c.923G>C (p.Arg308Pro)
n.906G>C
c.1031G>C (p.Arg344Pro)
c.663G>C
c.1001G>C (p.Arg334Pro)
c.932G>C (p.Arg311Pro)
c.796G>C
c.773G>C (p.Arg258Pro)
c.761G>C (p.Arg254Pro)
c.906G>C (n.906G>C)
c.701G>C (p.Arg234Pro)
c.824G>C (p.Arg275Pro)
c.776G>C (p.Arg259Pro)
c.800G>C (p.Arg267Pro)
c.413G>C (p.Arg138Pro)
7g.128398457C>TCA369168218IMPDH1c.923G>A (p.Arg308His)
n.906G>A
c.1031G>A (p.Arg344His)
c.663G>A
c.1001G>A (p.Arg334His)
c.932G>A (p.Arg311His)
c.796G>A
c.773G>A (p.Arg258His)
c.761G>A (p.Arg254His)
c.906G>A (n.906G>A)
c.701G>A (p.Arg234His)
c.824G>A (p.Arg275His)
c.776G>A (p.Arg259His)
c.800G>A (p.Arg267His)
c.413G>A (p.Arg138His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.128398458G>ACA4470976IMPDH1c.922C>T (p.Arg308Cys)
n.905C>T
c.1030C>T (p.Arg344Cys)
c.662C>T
c.1000C>T (p.Arg334Cys)
c.931C>T (p.Arg311Cys)
c.795C>T
c.772C>T (p.Arg258Cys)
c.760C>T (p.Arg254Cys)
c.905C>T (n.905C>T)
c.700C>T (p.Arg234Cys)
c.823C>T (p.Arg275Cys)
c.775C>T (p.Arg259Cys)
c.799C>T (p.Arg267Cys)
c.412C>T (p.Arg138Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398458G>CCA369168245IMPDH1c.922C>G (p.Arg308Gly)
n.905C>G
c.1030C>G (p.Arg344Gly)
c.662C>G
c.1000C>G (p.Arg334Gly)
c.931C>G (p.Arg311Gly)
c.795C>G
c.772C>G (p.Arg258Gly)
c.760C>G (p.Arg254Gly)
c.905C>G (n.905C>G)
c.700C>G (p.Arg234Gly)
c.823C>G (p.Arg275Gly)
c.775C>G (p.Arg259Gly)
c.799C>G (p.Arg267Gly)
c.412C>G (p.Arg138Gly)
7g.128398458G=CA1742366530IMPDH1c.922C= (p.Arg308=)
n.905C=
c.1030C= (p.Arg344=)
c.662C=
c.1000C= (p.Arg334=)
c.931C= (p.Arg311=)
c.795C=
c.772C= (p.Arg258=)
c.760C= (p.Arg254=)
c.905C= (n.905C=)
c.700C= (p.Arg234=)
c.823C= (p.Arg275=)
c.775C= (p.Arg259=)
c.799C= (p.Arg267=)
c.412C= (p.Arg138=)
7g.128398458G>TCA369168246IMPDH1c.922C>A (p.Arg308Ser)
n.905C>A
c.1030C>A (p.Arg344Ser)
c.662C>A
c.1000C>A (p.Arg334Ser)
c.931C>A (p.Arg311Ser)
c.795C>A
c.772C>A (p.Arg258Ser)
c.760C>A (p.Arg254Ser)
c.905C>A (n.905C>A)
c.700C>A (p.Arg234Ser)
c.823C>A (p.Arg275Ser)
c.775C>A (p.Arg259Ser)
c.799C>A (p.Arg267Ser)
c.412C>A (p.Arg138Ser)
7g.128398459G>ACA457528212IMPDH1c.921C>T (p.Tyr307=)
n.904C>T
c.1029C>T (p.Tyr343=)
c.661C>T
c.999C>T (p.Tyr333=)
c.930C>T (p.Tyr310=)
c.794C>T
c.771C>T (p.Tyr257=)
c.759C>T (p.Tyr253=)
c.904C>T (n.904C>T)
c.699C>T (p.Tyr233=)
c.822C>T (p.Tyr274=)
c.774C>T (p.Tyr258=)
c.798C>T (p.Tyr266=)
c.411C>T (p.Tyr137=)
 gnomAD v4 COSMIC
7g.128398459G>CCA369168250IMPDH1c.921C>G (p.Tyr307Ter)
n.904C>G
c.1029C>G (p.Tyr343Ter)
c.661C>G
c.999C>G (p.Tyr333Ter)
c.930C>G (p.Tyr310Ter)
c.794C>G
c.771C>G (p.Tyr257Ter)
c.759C>G (p.Tyr253Ter)
c.904C>G (n.904C>G)
c.699C>G (p.Tyr233Ter)
c.822C>G (p.Tyr274Ter)
c.774C>G (p.Tyr258Ter)
c.798C>G (p.Tyr266Ter)
c.411C>G (p.Tyr137Ter)
7g.128398459G>TCA369168261IMPDH1c.921C>A (p.Tyr307Ter)
n.904C>A
c.1029C>A (p.Tyr343Ter)
c.661C>A
c.999C>A (p.Tyr333Ter)
c.930C>A (p.Tyr310Ter)
c.794C>A
c.771C>A (p.Tyr257Ter)
c.759C>A (p.Tyr253Ter)
c.904C>A (n.904C>A)
c.699C>A (p.Tyr233Ter)
c.822C>A (p.Tyr274Ter)
c.774C>A (p.Tyr258Ter)
c.798C>A (p.Tyr266Ter)
c.411C>A (p.Tyr137Ter)
7g.128398460T>ACA369168277IMPDH1c.920A>T (p.Tyr307Phe)
n.903A>T
c.1028A>T (p.Tyr343Phe)
c.660A>T
c.998A>T (p.Tyr333Phe)
c.929A>T (p.Tyr310Phe)
c.793A>T
c.770A>T (p.Tyr257Phe)
c.758A>T (p.Tyr253Phe)
c.903A>T (n.903A>T)
c.698A>T (p.Tyr233Phe)
c.821A>T (p.Tyr274Phe)
c.773A>T (p.Tyr258Phe)
c.797A>T (p.Tyr266Phe)
c.410A>T (p.Tyr137Phe)
7g.128398460T>CCA369168278IMPDH1c.920A>G (p.Tyr307Cys)
n.903A>G
c.1028A>G (p.Tyr343Cys)
c.660A>G
c.998A>G (p.Tyr333Cys)
c.929A>G (p.Tyr310Cys)
c.793A>G
c.770A>G (p.Tyr257Cys)
c.758A>G (p.Tyr253Cys)
c.903A>G (n.903A>G)
c.698A>G (p.Tyr233Cys)
c.821A>G (p.Tyr274Cys)
c.773A>G (p.Tyr258Cys)
c.797A>G (p.Tyr266Cys)
c.410A>G (p.Tyr137Cys)
 gnomAD v4
7g.128398460T>GCA369168266IMPDH1c.920A>C (p.Tyr307Ser)
n.903A>C
c.1028A>C (p.Tyr343Ser)
c.660A>C
c.998A>C (p.Tyr333Ser)
c.929A>C (p.Tyr310Ser)
c.793A>C
c.770A>C (p.Tyr257Ser)
c.758A>C (p.Tyr253Ser)
c.903A>C (n.903A>C)
c.698A>C (p.Tyr233Ser)
c.821A>C (p.Tyr274Ser)
c.773A>C (p.Tyr258Ser)
c.797A>C (p.Tyr266Ser)
c.410A>C (p.Tyr137Ser)
7g.128398461A=CA1742366539IMPDH1c.919T= (p.Tyr307=)
n.902T=
c.1027T= (p.Tyr343=)
c.659T=
c.997T= (p.Tyr333=)
c.928T= (p.Tyr310=)
c.792T=
c.769T= (p.Tyr257=)
c.757T= (p.Tyr253=)
c.902T= (n.902T=)
c.697T= (p.Tyr233=)
c.820T= (p.Tyr274=)
c.772T= (p.Tyr258=)
c.796T= (p.Tyr266=)
c.409T= (p.Tyr137=)
7g.128398461A>CCA369168299IMPDH1c.919T>G (p.Tyr307Asp)
n.902T>G
c.1027T>G (p.Tyr343Asp)
c.659T>G
c.997T>G (p.Tyr333Asp)
c.928T>G (p.Tyr310Asp)
c.792T>G
c.769T>G (p.Tyr257Asp)
c.757T>G (p.Tyr253Asp)
c.902T>G (n.902T>G)
c.697T>G (p.Tyr233Asp)
c.820T>G (p.Tyr274Asp)
c.772T>G (p.Tyr258Asp)
c.796T>G (p.Tyr266Asp)
c.409T>G (p.Tyr137Asp)
7g.128398461A>GCA369168280IMPDH1c.919T>C (p.Tyr307His)
n.902T>C
c.1027T>C (p.Tyr343His)
c.659T>C
c.997T>C (p.Tyr333His)
c.928T>C (p.Tyr310His)
c.792T>C
c.769T>C (p.Tyr257His)
c.757T>C (p.Tyr253His)
c.902T>C (n.902T>C)
c.697T>C (p.Tyr233His)
c.820T>C (p.Tyr274His)
c.772T>C (p.Tyr258His)
c.796T>C (p.Tyr266His)
c.409T>C (p.Tyr137His)
 dbSNP
7g.128398461A>TCA369168284IMPDH1c.919T>A (p.Tyr307Asn)
n.902T>A
c.1027T>A (p.Tyr343Asn)
c.659T>A
c.997T>A (p.Tyr333Asn)
c.928T>A (p.Tyr310Asn)
c.792T>A
c.769T>A (p.Tyr257Asn)
c.757T>A (p.Tyr253Asn)
c.902T>A (n.902T>A)
c.697T>A (p.Tyr233Asn)
c.820T>A (p.Tyr274Asn)
c.772T>A (p.Tyr258Asn)
c.796T>A (p.Tyr266Asn)
c.409T>A (p.Tyr137Asn)
7g.128398462T>ACA369168308IMPDH1c.918A>T (p.Lys306Asn)
n.901A>T
c.1026A>T (p.Lys342Asn)
c.658A>T
c.996A>T (p.Lys332Asn)
c.927A>T (p.Lys309Asn)
c.791A>T
c.768A>T (p.Lys256Asn)
c.756A>T (p.Lys252Asn)
c.901A>T (n.901A>T)
c.696A>T (p.Lys232Asn)
c.819A>T (p.Lys273Asn)
c.771A>T (p.Lys257Asn)
c.795A>T (p.Lys265Asn)
c.408A>T (p.Lys136Asn)
7g.128398462T>CCA457528217IMPDH1c.918A>G (p.Lys306=)
n.901A>G
c.1026A>G (p.Lys342=)
c.658A>G
c.996A>G (p.Lys332=)
c.927A>G (p.Lys309=)
c.791A>G
c.768A>G (p.Lys256=)
c.756A>G (p.Lys252=)
c.901A>G (n.901A>G)
c.696A>G (p.Lys232=)
c.819A>G (p.Lys273=)
c.771A>G (p.Lys257=)
c.795A>G (p.Lys265=)
c.408A>G (p.Lys136=)
7g.128398462T>GCA369168315IMPDH1c.918A>C (p.Lys306Asn)
n.901A>C
c.1026A>C (p.Lys342Asn)
c.658A>C
c.996A>C (p.Lys332Asn)
c.927A>C (p.Lys309Asn)
c.791A>C
c.768A>C (p.Lys256Asn)
c.756A>C (p.Lys252Asn)
c.901A>C (n.901A>C)
c.696A>C (p.Lys232Asn)
c.819A>C (p.Lys273Asn)
c.771A>C (p.Lys257Asn)
c.795A>C (p.Lys265Asn)
c.408A>C (p.Lys136Asn)
7g.128398463T>ACA369168325IMPDH1c.917A>T (p.Lys306Ile)
n.900A>T
c.1025A>T (p.Lys342Ile)
c.657A>T
c.995A>T (p.Lys332Ile)
c.926A>T (p.Lys309Ile)
c.790A>T
c.767A>T (p.Lys256Ile)
c.755A>T (p.Lys252Ile)
c.900A>T (n.900A>T)
c.695A>T (p.Lys232Ile)
c.818A>T (p.Lys273Ile)
c.770A>T (p.Lys257Ile)
c.794A>T (p.Lys265Ile)
c.407A>T (p.Lys136Ile)
7g.128398463T>CCA369168327IMPDH1c.917A>G (p.Lys306Arg)
n.900A>G
c.1025A>G (p.Lys342Arg)
c.657A>G
c.995A>G (p.Lys332Arg)
c.926A>G (p.Lys309Arg)
c.790A>G
c.767A>G (p.Lys256Arg)
c.755A>G (p.Lys252Arg)
c.900A>G (n.900A>G)
c.695A>G (p.Lys232Arg)
c.818A>G (p.Lys273Arg)
c.770A>G (p.Lys257Arg)
c.794A>G (p.Lys265Arg)
c.407A>G (p.Lys136Arg)
 gnomAD v4
7g.128398463T>GCA369168330IMPDH1c.917A>C (p.Lys306Thr)
n.900A>C
c.1025A>C (p.Lys342Thr)
c.657A>C
c.995A>C (p.Lys332Thr)
c.926A>C (p.Lys309Thr)
c.790A>C
c.767A>C (p.Lys256Thr)
c.755A>C (p.Lys252Thr)
c.900A>C (n.900A>C)
c.695A>C (p.Lys232Thr)
c.818A>C (p.Lys273Thr)
c.770A>C (p.Lys257Thr)
c.794A>C (p.Lys265Thr)
c.407A>C (p.Lys136Thr)
7g.128398464T>ACA369168334IMPDH1c.916A>T (p.Lys306Ter)
n.899A>T
c.1024A>T (p.Lys342Ter)
c.656A>T
c.994A>T (p.Lys332Ter)
c.925A>T (p.Lys309Ter)
c.789A>T
c.766A>T (p.Lys256Ter)
c.754A>T (p.Lys252Ter)
c.899A>T (n.899A>T)
c.694A>T (p.Lys232Ter)
c.817A>T (p.Lys273Ter)
c.769A>T (p.Lys257Ter)
c.793A>T (p.Lys265Ter)
c.406A>T (p.Lys136Ter)
7g.128398464T>CCA369168345IMPDH1c.916A>G (p.Lys306Glu)
n.899A>G
c.1024A>G (p.Lys342Glu)
c.656A>G
c.994A>G (p.Lys332Glu)
c.925A>G (p.Lys309Glu)
c.789A>G
c.766A>G (p.Lys256Glu)
c.754A>G (p.Lys252Glu)
c.899A>G (n.899A>G)
c.694A>G (p.Lys232Glu)
c.817A>G (p.Lys273Glu)
c.769A>G (p.Lys257Glu)
c.793A>G (p.Lys265Glu)
c.406A>G (p.Lys136Glu)
 gnomAD v4
7g.128398464T>GCA369168355IMPDH1c.916A>C (p.Lys306Gln)
n.899A>C
c.1024A>C (p.Lys342Gln)
c.656A>C
c.994A>C (p.Lys332Gln)
c.925A>C (p.Lys309Gln)
c.789A>C
c.766A>C (p.Lys256Gln)
c.754A>C (p.Lys252Gln)
c.899A>C (n.899A>C)
c.694A>C (p.Lys232Gln)
c.817A>C (p.Lys273Gln)
c.769A>C (p.Lys257Gln)
c.793A>C (p.Lys265Gln)
c.406A>C (p.Lys136Gln)
7g.128398465G>ACA457528219IMPDH1c.915C>T (p.Asp305=)
n.898C>T
c.1023C>T (p.Asp341=)
c.655C>T
c.993C>T (p.Asp331=)
c.924C>T (p.Asp308=)
c.788C>T
c.765C>T (p.Asp255=)
c.753C>T (p.Asp251=)
c.898C>T (n.898C>T)
c.693C>T (p.Asp231=)
c.816C>T (p.Asp272=)
c.768C>T (p.Asp256=)
c.792C>T (p.Asp264=)
c.405C>T (p.Asp135=)
7g.128398465G>CCA369168369IMPDH1c.915C>G (p.Asp305Glu)
n.898C>G
c.1023C>G (p.Asp341Glu)
c.655C>G
c.993C>G (p.Asp331Glu)
c.924C>G (p.Asp308Glu)
c.788C>G
c.765C>G (p.Asp255Glu)
c.753C>G (p.Asp251Glu)
c.898C>G (n.898C>G)
c.693C>G (p.Asp231Glu)
c.816C>G (p.Asp272Glu)
c.768C>G (p.Asp256Glu)
c.792C>G (p.Asp264Glu)
c.405C>G (p.Asp135Glu)
7g.128398465G>TCA369168375IMPDH1c.915C>A (p.Asp305Glu)
n.898C>A
c.1023C>A (p.Asp341Glu)
c.655C>A
c.993C>A (p.Asp331Glu)
c.924C>A (p.Asp308Glu)
c.788C>A
c.765C>A (p.Asp255Glu)
c.753C>A (p.Asp251Glu)
c.898C>A (n.898C>A)
c.693C>A (p.Asp231Glu)
c.816C>A (p.Asp272Glu)
c.768C>A (p.Asp256Glu)
c.792C>A (p.Asp264Glu)
c.405C>A (p.Asp135Glu)
7g.128398466T>ACA369168391IMPDH1c.914A>T (p.Asp305Val)
n.897A>T
c.1022A>T (p.Asp341Val)
c.654A>T
c.992A>T (p.Asp331Val)
c.923A>T (p.Asp308Val)
c.787A>T
c.764A>T (p.Asp255Val)
c.752A>T (p.Asp251Val)
c.897A>T (n.897A>T)
c.692A>T (p.Asp231Val)
c.815A>T (p.Asp272Val)
c.767A>T (p.Asp256Val)
c.791A>T (p.Asp264Val)
c.404A>T (p.Asp135Val)
7g.128398466T>CCA369168390IMPDH1c.914A>G (p.Asp305Gly)
n.897A>G
c.1022A>G (p.Asp341Gly)
c.654A>G
c.992A>G (p.Asp331Gly)
c.923A>G (p.Asp308Gly)
c.787A>G
c.764A>G (p.Asp255Gly)
c.752A>G (p.Asp251Gly)
c.897A>G (n.897A>G)
c.692A>G (p.Asp231Gly)
c.815A>G (p.Asp272Gly)
c.767A>G (p.Asp256Gly)
c.791A>G (p.Asp264Gly)
c.404A>G (p.Asp135Gly)
 COSMIC
7g.128398466T>GCA369168381IMPDH1c.914A>C (p.Asp305Ala)
n.897A>C
c.1022A>C (p.Asp341Ala)
c.654A>C
c.992A>C (p.Asp331Ala)
c.923A>C (p.Asp308Ala)
c.787A>C
c.764A>C (p.Asp255Ala)
c.752A>C (p.Asp251Ala)
c.897A>C (n.897A>C)
c.692A>C (p.Asp231Ala)
c.815A>C (p.Asp272Ala)
c.767A>C (p.Asp256Ala)
c.791A>C (p.Asp264Ala)
c.404A>C (p.Asp135Ala)
7g.128398467C>ACA369168400IMPDH1c.913G>T (p.Asp305Tyr)
n.896G>T
c.1021G>T (p.Asp341Tyr)
c.653G>T
c.991G>T (p.Asp331Tyr)
c.922G>T (p.Asp308Tyr)
c.786G>T
c.763G>T (p.Asp255Tyr)
c.751G>T (p.Asp251Tyr)
c.896G>T (n.896G>T)
c.691G>T (p.Asp231Tyr)
c.814G>T (p.Asp272Tyr)
c.766G>T (p.Asp256Tyr)
c.790G>T (p.Asp264Tyr)
c.403G>T (p.Asp135Tyr)
 gnomAD v4
7g.128398467C>GCA369168404IMPDH1c.913G>C (p.Asp305His)
n.896G>C
c.1021G>C (p.Asp341His)
c.653G>C
c.991G>C (p.Asp331His)
c.922G>C (p.Asp308His)
c.786G>C
c.763G>C (p.Asp255His)
c.751G>C (p.Asp251His)
c.896G>C (n.896G>C)
c.691G>C (p.Asp231His)
c.814G>C (p.Asp272His)
c.766G>C (p.Asp256His)
c.790G>C (p.Asp264His)
c.403G>C (p.Asp135His)
7g.128398467C>TCA369168412IMPDH1c.913G>A (p.Asp305Asn)
n.896G>A
c.1021G>A (p.Asp341Asn)
c.653G>A
c.991G>A (p.Asp331Asn)
c.922G>A (p.Asp308Asn)
c.786G>A
c.763G>A (p.Asp255Asn)
c.751G>A (p.Asp251Asn)
c.896G>A (n.896G>A)
c.691G>A (p.Asp231Asn)
c.814G>A (p.Asp272Asn)
c.766G>A (p.Asp256Asn)
c.790G>A (p.Asp264Asn)
c.403G>A (p.Asp135Asn)
 COSMIC
7g.128398468A=CA1742366550IMPDH1c.912T= (p.Asp304=)
n.895T=
c.1020T= (p.Asp340=)
c.652T=
c.990T= (p.Asp330=)
c.921T= (p.Asp307=)
c.785T=
c.762T= (p.Asp254=)
c.750T= (p.Asp250=)
c.895T= (n.895T=)
c.690T= (p.Asp230=)
c.813T= (p.Asp271=)
c.765T= (p.Asp255=)
c.789T= (p.Asp263=)
c.402T= (p.Asp134=)
7g.128398468A>CCA369168414IMPDH1c.912T>G (p.Asp304Glu)
n.895T>G
c.1020T>G (p.Asp340Glu)
c.652T>G
c.990T>G (p.Asp330Glu)
c.921T>G (p.Asp307Glu)
c.785T>G
c.762T>G (p.Asp254Glu)
c.750T>G (p.Asp250Glu)
c.895T>G (n.895T>G)
c.690T>G (p.Asp230Glu)
c.813T>G (p.Asp271Glu)
c.765T>G (p.Asp255Glu)
c.789T>G (p.Asp263Glu)
c.402T>G (p.Asp134Glu)
7g.128398468A>GCA457528223IMPDH1c.912T>C (p.Asp304=)
n.895T>C
c.1020T>C (p.Asp340=)
c.652T>C
c.990T>C (p.Asp330=)
c.921T>C (p.Asp307=)
c.785T>C
c.762T>C (p.Asp254=)
c.750T>C (p.Asp250=)
c.895T>C (n.895T>C)
c.690T>C (p.Asp230=)
c.813T>C (p.Asp271=)
c.765T>C (p.Asp255=)
c.789T>C (p.Asp263=)
c.402T>C (p.Asp134=)
 dbSNP
7g.128398468A>TCA369168415IMPDH1c.912T>A (p.Asp304Glu)
n.895T>A
c.1020T>A (p.Asp340Glu)
c.652T>A
c.990T>A (p.Asp330Glu)
c.921T>A (p.Asp307Glu)
c.785T>A
c.762T>A (p.Asp254Glu)
c.750T>A (p.Asp250Glu)
c.895T>A (n.895T>A)
c.690T>A (p.Asp230Glu)
c.813T>A (p.Asp271Glu)
c.765T>A (p.Asp255Glu)
c.789T>A (p.Asp263Glu)
c.402T>A (p.Asp134Glu)
7g.128398469T>ACA369168417IMPDH1c.911A>T (p.Asp304Val)
n.894A>T
c.1019A>T (p.Asp340Val)
c.651A>T
c.989A>T (p.Asp330Val)
c.920A>T (p.Asp307Val)
c.784A>T
c.761A>T (p.Asp254Val)
c.749A>T (p.Asp250Val)
c.894A>T (n.894A>T)
c.689A>T (p.Asp230Val)
c.812A>T (p.Asp271Val)
c.764A>T (p.Asp255Val)
c.788A>T (p.Asp263Val)
c.401A>T (p.Asp134Val)
7g.128398469T>CCA369168419IMPDH1c.911A>G (p.Asp304Gly)
n.894A>G
c.1019A>G (p.Asp340Gly)
c.651A>G
c.989A>G (p.Asp330Gly)
c.920A>G (p.Asp307Gly)
c.784A>G
c.761A>G (p.Asp254Gly)
c.749A>G (p.Asp250Gly)
c.894A>G (n.894A>G)
c.689A>G (p.Asp230Gly)
c.812A>G (p.Asp271Gly)
c.764A>G (p.Asp255Gly)
c.788A>G (p.Asp263Gly)
c.401A>G (p.Asp134Gly)
7g.128398469T>GCA369168421IMPDH1c.911A>C (p.Asp304Ala)
n.894A>C
c.1019A>C (p.Asp340Ala)
c.651A>C
c.989A>C (p.Asp330Ala)
c.920A>C (p.Asp307Ala)
c.784A>C
c.761A>C (p.Asp254Ala)
c.749A>C (p.Asp250Ala)
c.894A>C (n.894A>C)
c.689A>C (p.Asp230Ala)
c.812A>C (p.Asp271Ala)
c.764A>C (p.Asp255Ala)
c.788A>C (p.Asp263Ala)
c.401A>C (p.Asp134Ala)
7g.128398470C>ACA369168422IMPDH1c.910G>T (p.Asp304Tyr)
n.893G>T
c.1018G>T (p.Asp340Tyr)
c.650G>T
c.988G>T (p.Asp330Tyr)
c.919G>T (p.Asp307Tyr)
c.783G>T
c.760G>T (p.Asp254Tyr)
c.748G>T (p.Asp250Tyr)
c.893G>T (n.893G>T)
c.688G>T (p.Asp230Tyr)
c.811G>T (p.Asp271Tyr)
c.763G>T (p.Asp255Tyr)
c.787G>T (p.Asp263Tyr)
c.400G>T (p.Asp134Tyr)
7g.128398470C=CA1742366553IMPDH1c.910G= (p.Asp304=)
n.893G=
c.1018G= (p.Asp340=)
c.650G=
c.988G= (p.Asp330=)
c.919G= (p.Asp307=)
c.783G=
c.760G= (p.Asp254=)
c.748G= (p.Asp250=)
c.893G= (n.893G=)
c.688G= (p.Asp230=)
c.811G= (p.Asp271=)
c.763G= (p.Asp255=)
c.787G= (p.Asp263=)
c.400G= (p.Asp134=)
7g.128398470C>GCA369168426IMPDH1c.910G>C (p.Asp304His)
n.893G>C
c.1018G>C (p.Asp340His)
c.650G>C
c.988G>C (p.Asp330His)
c.919G>C (p.Asp307His)
c.783G>C
c.760G>C (p.Asp254His)
c.748G>C (p.Asp250His)
c.893G>C (n.893G>C)
c.688G>C (p.Asp230His)
c.811G>C (p.Asp271His)
c.763G>C (p.Asp255His)
c.787G>C (p.Asp263His)
c.400G>C (p.Asp134His)
7g.128398470C>TCA369168431IMPDH1c.910G>A (p.Asp304Asn)
n.893G>A
c.1018G>A (p.Asp340Asn)
c.650G>A
c.988G>A (p.Asp330Asn)
c.919G>A (p.Asp307Asn)
c.783G>A
c.760G>A (p.Asp254Asn)
c.748G>A (p.Asp250Asn)
c.893G>A (n.893G>A)
c.688G>A (p.Asp230Asn)
c.811G>A (p.Asp271Asn)
c.763G>A (p.Asp255Asn)
c.787G>A (p.Asp263Asn)
c.400G>A (p.Asp134Asn)
 dbSNP
7g.128398471C>ACA369168435IMPDH1c.909G>T (p.Glu303Asp)
n.892G>T
c.1017G>T (p.Glu339Asp)
c.649G>T
c.987G>T (p.Glu329Asp)
c.918G>T (p.Glu306Asp)
c.782G>T
c.759G>T (p.Glu253Asp)
c.747G>T (p.Glu249Asp)
c.892G>T (n.892G>T)
c.687G>T (p.Glu229Asp)
c.810G>T (p.Glu270Asp)
c.762G>T (p.Glu254Asp)
c.786G>T (p.Glu262Asp)
c.399G>T (p.Glu133Asp)
7g.128398471C=CA1742366556IMPDH1c.909G= (p.Glu303=)
n.892G=
c.1017G= (p.Glu339=)
c.649G=
c.987G= (p.Glu329=)
c.918G= (p.Glu306=)
c.782G=
c.759G= (p.Glu253=)
c.747G= (p.Glu249=)
c.892G= (n.892G=)
c.687G= (p.Glu229=)
c.810G= (p.Glu270=)
c.762G= (p.Glu254=)
c.786G= (p.Glu262=)
c.399G= (p.Glu133=)
7g.128398471C>GCA369168437IMPDH1c.909G>C (p.Glu303Asp)
n.892G>C
c.1017G>C (p.Glu339Asp)
c.649G>C
c.987G>C (p.Glu329Asp)
c.918G>C (p.Glu306Asp)
c.782G>C
c.759G>C (p.Glu253Asp)
c.747G>C (p.Glu249Asp)
c.892G>C (n.892G>C)
c.687G>C (p.Glu229Asp)
c.810G>C (p.Glu270Asp)
c.762G>C (p.Glu254Asp)
c.786G>C (p.Glu262Asp)
c.399G>C (p.Glu133Asp)
7g.128398471C>TCA457528225IMPDH1c.909G>A (p.Glu303=)
n.892G>A
c.1017G>A (p.Glu339=)
c.649G>A
c.987G>A (p.Glu329=)
c.918G>A (p.Glu306=)
c.782G>A
c.759G>A (p.Glu253=)
c.747G>A (p.Glu249=)
c.892G>A (n.892G>A)
c.687G>A (p.Glu229=)
c.810G>A (p.Glu270=)
c.762G>A (p.Glu254=)
c.786G>A (p.Glu262=)
c.399G>A (p.Glu133=)
 dbSNP gnomAD v2
7g.128398472T>ACA369168447IMPDH1c.908A>T (p.Glu303Val)
n.891A>T
c.1016A>T (p.Glu339Val)
c.648A>T
c.986A>T (p.Glu329Val)
c.917A>T (p.Glu306Val)
c.781A>T
c.758A>T (p.Glu253Val)
c.746A>T (p.Glu249Val)
c.891A>T (n.891A>T)
c.686A>T (p.Glu229Val)
c.809A>T (p.Glu270Val)
c.761A>T (p.Glu254Val)
c.785A>T (p.Glu262Val)
c.398A>T (p.Glu133Val)
7g.128398472T>CCA369168442IMPDH1c.908A>G (p.Glu303Gly)
n.891A>G
c.1016A>G (p.Glu339Gly)
c.648A>G
c.986A>G (p.Glu329Gly)
c.917A>G (p.Glu306Gly)
c.781A>G
c.758A>G (p.Glu253Gly)
c.746A>G (p.Glu249Gly)
c.891A>G (n.891A>G)
c.686A>G (p.Glu229Gly)
c.809A>G (p.Glu270Gly)
c.761A>G (p.Glu254Gly)
c.785A>G (p.Glu262Gly)
c.398A>G (p.Glu133Gly)
7g.128398472T>GCA369168440IMPDH1c.908A>C (p.Glu303Ala)
n.891A>C
c.1016A>C (p.Glu339Ala)
c.648A>C
c.986A>C (p.Glu329Ala)
c.917A>C (p.Glu306Ala)
c.781A>C
c.758A>C (p.Glu253Ala)
c.746A>C (p.Glu249Ala)
c.891A>C (n.891A>C)
c.686A>C (p.Glu229Ala)
c.809A>C (p.Glu270Ala)
c.761A>C (p.Glu254Ala)
c.785A>C (p.Glu262Ala)
c.398A>C (p.Glu133Ala)
7g.128398473C>ACA369168451IMPDH1c.907G>T (p.Glu303Ter)
n.890G>T
c.1015G>T (p.Glu339Ter)
c.647G>T
c.985G>T (p.Glu329Ter)
c.916G>T (p.Glu306Ter)
c.780G>T
c.757G>T (p.Glu253Ter)
c.745G>T (p.Glu249Ter)
c.890G>T (n.890G>T)
c.685G>T (p.Glu229Ter)
c.808G>T (p.Glu270Ter)
c.760G>T (p.Glu254Ter)
c.784G>T (p.Glu262Ter)
c.397G>T (p.Glu133Ter)
7g.128398473C=CA1742366563IMPDH1c.907G= (p.Glu303=)
n.890G=
c.1015G= (p.Glu339=)
c.647G=
c.985G= (p.Glu329=)
c.916G= (p.Glu306=)
c.780G=
c.757G= (p.Glu253=)
c.745G= (p.Glu249=)
c.890G= (n.890G=)
c.685G= (p.Glu229=)
c.808G= (p.Glu270=)
c.760G= (p.Glu254=)
c.784G= (p.Glu262=)
c.397G= (p.Glu133=)
7g.128398473C>GCA369168448IMPDH1c.907G>C (p.Glu303Gln)
n.890G>C
c.1015G>C (p.Glu339Gln)
c.647G>C
c.985G>C (p.Glu329Gln)
c.916G>C (p.Glu306Gln)
c.780G>C
c.757G>C (p.Glu253Gln)
c.745G>C (p.Glu249Gln)
c.890G>C (n.890G>C)
c.685G>C (p.Glu229Gln)
c.808G>C (p.Glu270Gln)
c.760G>C (p.Glu254Gln)
c.784G>C (p.Glu262Gln)
c.397G>C (p.Glu133Gln)
 dbSNP
7g.128398473C>TCA369168449IMPDH1c.907G>A (p.Glu303Lys)
n.890G>A
c.1015G>A (p.Glu339Lys)
c.647G>A
c.985G>A (p.Glu329Lys)
c.916G>A (p.Glu306Lys)
c.780G>A
c.757G>A (p.Glu253Lys)
c.745G>A (p.Glu249Lys)
c.890G>A (n.890G>A)
c.685G>A (p.Glu229Lys)
c.808G>A (p.Glu270Lys)
c.760G>A (p.Glu254Lys)
c.784G>A (p.Glu262Lys)
c.397G>A (p.Glu133Lys)
7g.128398474A>CCA457528229IMPDH1c.906T>G (p.Arg302=)
n.889T>G
c.1014T>G (p.Arg338=)
c.646T>G
c.984T>G (p.Arg328=)
c.915T>G (p.Arg305=)
c.779T>G
c.756T>G (p.Arg252=)
c.744T>G (p.Arg248=)
c.889T>G (n.889T>G)
c.684T>G (p.Arg228=)
c.807T>G (p.Arg269=)
c.759T>G (p.Arg253=)
c.783T>G (p.Arg261=)
c.396T>G (p.Arg132=)
7g.128398474A>GCA457528230IMPDH1c.906T>C (p.Arg302=)
n.889T>C
c.1014T>C (p.Arg338=)
c.646T>C
c.984T>C (p.Arg328=)
c.915T>C (p.Arg305=)
c.779T>C
c.756T>C (p.Arg252=)
c.744T>C (p.Arg248=)
c.889T>C (n.889T>C)
c.684T>C (p.Arg228=)
c.807T>C (p.Arg269=)
c.759T>C (p.Arg253=)
c.783T>C (p.Arg261=)
c.396T>C (p.Arg132=)
7g.128398474A>TCA457528231IMPDH1c.906T>A (p.Arg302=)
n.889T>A
c.1014T>A (p.Arg338=)
c.646T>A
c.984T>A (p.Arg328=)
c.915T>A (p.Arg305=)
c.779T>A
c.756T>A (p.Arg252=)
c.744T>A (p.Arg248=)
c.889T>A (n.889T>A)
c.684T>A (p.Arg228=)
c.807T>A (p.Arg269=)
c.759T>A (p.Arg253=)
c.783T>A (p.Arg261=)
c.396T>A (p.Arg132=)
7g.128398475C>ACA4470977IMPDH1c.905G>T (p.Arg302Leu)
n.888G>T
c.1013G>T (p.Arg338Leu)
c.645G>T
c.983G>T (p.Arg328Leu)
c.914G>T (p.Arg305Leu)
c.778G>T
c.755G>T (p.Arg252Leu)
c.743G>T (p.Arg248Leu)
c.888G>T (n.888G>T)
c.683G>T (p.Arg228Leu)
c.806G>T (p.Arg269Leu)
c.758G>T (p.Arg253Leu)
c.782G>T (p.Arg261Leu)
c.395G>T (p.Arg132Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128398475C=CA1742327975IMPDH1c.905G= (p.Arg302=)
n.888G=
c.1013G= (p.Arg338=)
c.645G=
c.983G= (p.Arg328=)
c.914G= (p.Arg305=)
c.778G=
c.755G= (p.Arg252=)
c.743G= (p.Arg248=)
c.888G= (n.888G=)
c.683G= (p.Arg228=)
c.806G= (p.Arg269=)
c.758G= (p.Arg253=)
c.782G= (p.Arg261=)
c.395G= (p.Arg132=)
7g.128398475C>GCA369168469IMPDH1c.905G>C (p.Arg302Pro)
n.888G>C
c.1013G>C (p.Arg338Pro)
c.645G>C
c.983G>C (p.Arg328Pro)
c.914G>C (p.Arg305Pro)
c.778G>C
c.755G>C (p.Arg252Pro)
c.743G>C (p.Arg248Pro)
c.888G>C (n.888G>C)
c.683G>C (p.Arg228Pro)
c.806G>C (p.Arg269Pro)
c.758G>C (p.Arg253Pro)
c.782G>C (p.Arg261Pro)
c.395G>C (p.Arg132Pro)
 gnomAD v4
7g.128398475C>TCA4470978IMPDH1c.905G>A (p.Arg302His)
n.888G>A
c.1013G>A (p.Arg338His)
c.645G>A
c.983G>A (p.Arg328His)
c.914G>A (p.Arg305His)
c.778G>A
c.755G>A (p.Arg252His)
c.743G>A (p.Arg248His)
c.888G>A (n.888G>A)
c.683G>A (p.Arg228His)
c.806G>A (p.Arg269His)
c.758G>A (p.Arg253His)
c.782G>A (p.Arg261His)
c.395G>A (p.Arg132His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398476G>ACA4470979IMPDH1c.904C>T (p.Arg302Cys)
n.887C>T
c.1012C>T (p.Arg338Cys)
c.644C>T
c.982C>T (p.Arg328Cys)
c.913C>T (p.Arg305Cys)
c.777C>T
c.754C>T (p.Arg252Cys)
c.742C>T (p.Arg248Cys)
c.887C>T (n.887C>T)
c.682C>T (p.Arg228Cys)
c.805C>T (p.Arg269Cys)
c.757C>T (p.Arg253Cys)
c.781C>T (p.Arg261Cys)
c.394C>T (p.Arg132Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398476G>CCA369168481IMPDH1c.904C>G (p.Arg302Gly)
n.887C>G
c.1012C>G (p.Arg338Gly)
c.644C>G
c.982C>G (p.Arg328Gly)
c.913C>G (p.Arg305Gly)
c.777C>G
c.754C>G (p.Arg252Gly)
c.742C>G (p.Arg248Gly)
c.887C>G (n.887C>G)
c.682C>G (p.Arg228Gly)
c.805C>G (p.Arg269Gly)
c.757C>G (p.Arg253Gly)
c.781C>G (p.Arg261Gly)
c.394C>G (p.Arg132Gly)
7g.128398476G=CA1742328000IMPDH1c.904C= (p.Arg302=)
n.887C=
c.1012C= (p.Arg338=)
c.644C=
c.982C= (p.Arg328=)
c.913C= (p.Arg305=)
c.777C=
c.754C= (p.Arg252=)
c.742C= (p.Arg248=)
c.887C= (n.887C=)
c.682C= (p.Arg228=)
c.805C= (p.Arg269=)
c.757C= (p.Arg253=)
c.781C= (p.Arg261=)
c.394C= (p.Arg132=)
7g.128398476G>TCA369168475IMPDH1c.904C>A (p.Arg302Ser)
n.887C>A
c.1012C>A (p.Arg338Ser)
c.644C>A
c.982C>A (p.Arg328Ser)
c.913C>A (p.Arg305Ser)
c.777C>A
c.754C>A (p.Arg252Ser)
c.742C>A (p.Arg248Ser)
c.887C>A (n.887C>A)
c.682C>A (p.Arg228Ser)
c.805C>A (p.Arg269Ser)
c.757C>A (p.Arg253Ser)
c.781C>A (p.Arg261Ser)
c.394C>A (p.Arg132Ser)
7g.128398478delCA2684777528IMPDH1c.904del (p.Arg302ValfsTer19)
n.887del
c.1012del (p.Arg338ValfsTer19)
c.644del
c.982del (p.Arg328ValfsTer19)
c.913del (p.Arg305ValfsTer19)
c.777del
c.754del (p.Arg252ValfsTer19)
c.742del (p.Arg248ValfsTer19)
c.887del (n.887del)
c.682del (p.Arg228ValfsTer19)
c.805del (p.Arg269ValfsTer19)
c.757del (p.Arg253ValfsTer19)
c.781del (p.Arg261ValfsTer19)
c.394del (p.Arg132ValfsTer19)
 gnomAD v4
7g.128398477G>ACA457528233IMPDH1c.903C>T (p.Thr301=)
n.886C>T
c.1011C>T (p.Thr337=)
c.643C>T
c.981C>T (p.Thr327=)
c.912C>T (p.Thr304=)
c.776C>T
c.753C>T (p.Thr251=)
c.741C>T (p.Thr247=)
c.886C>T (n.886C>T)
c.681C>T (p.Thr227=)
c.804C>T (p.Thr268=)
c.756C>T (p.Thr252=)
c.780C>T (p.Thr260=)
c.393C>T (p.Thr131=)
7g.128398477G>CCA457528234IMPDH1c.903C>G (p.Thr301=)
n.886C>G
c.1011C>G (p.Thr337=)
c.643C>G
c.981C>G (p.Thr327=)
c.912C>G (p.Thr304=)
c.776C>G
c.753C>G (p.Thr251=)
c.741C>G (p.Thr247=)
c.886C>G (n.886C>G)
c.681C>G (p.Thr227=)
c.804C>G (p.Thr268=)
c.756C>G (p.Thr252=)
c.780C>G (p.Thr260=)
c.393C>G (p.Thr131=)
7g.128398477G>TCA457528235IMPDH1c.903C>A (p.Thr301=)
n.886C>A
c.1011C>A (p.Thr337=)
c.643C>A
c.981C>A (p.Thr327=)
c.912C>A (p.Thr304=)
c.776C>A
c.753C>A (p.Thr251=)
c.741C>A (p.Thr247=)
c.886C>A (n.886C>A)
c.681C>A (p.Thr227=)
c.804C>A (p.Thr268=)
c.756C>A (p.Thr252=)
c.780C>A (p.Thr260=)
c.393C>A (p.Thr131=)
7g.128398478G>ACA4470980IMPDH1c.902C>T (p.Thr301Ile)
n.885C>T
c.1010C>T (p.Thr337Ile)
c.642C>T
c.980C>T (p.Thr327Ile)
c.911C>T (p.Thr304Ile)
c.775C>T
c.752C>T (p.Thr251Ile)
c.740C>T (p.Thr247Ile)
c.885C>T (n.885C>T)
c.680C>T (p.Thr227Ile)
c.803C>T (p.Thr268Ile)
c.755C>T (p.Thr252Ile)
c.779C>T (p.Thr260Ile)
c.392C>T (p.Thr131Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.128398478G>CCA369168500IMPDH1c.902C>G (p.Thr301Ser)
n.885C>G
c.1010C>G (p.Thr337Ser)
c.642C>G
c.980C>G (p.Thr327Ser)
c.911C>G (p.Thr304Ser)
c.775C>G
c.752C>G (p.Thr251Ser)
c.740C>G (p.Thr247Ser)
c.885C>G (n.885C>G)
c.680C>G (p.Thr227Ser)
c.803C>G (p.Thr268Ser)
c.755C>G (p.Thr252Ser)
c.779C>G (p.Thr260Ser)
c.392C>G (p.Thr131Ser)
7g.128398478G=CA1742328008IMPDH1c.902C= (p.Thr301=)
n.885C=
c.1010C= (p.Thr337=)
c.642C=
c.980C= (p.Thr327=)
c.911C= (p.Thr304=)
c.775C=
c.752C= (p.Thr251=)
c.740C= (p.Thr247=)
c.885C= (n.885C=)
c.680C= (p.Thr227=)
c.803C= (p.Thr268=)
c.755C= (p.Thr252=)
c.779C= (p.Thr260=)
c.392C= (p.Thr131=)
7g.128398478G>TCA369168503IMPDH1c.902C>A (p.Thr301Asn)
n.885C>A
c.1010C>A (p.Thr337Asn)
c.642C>A
c.980C>A (p.Thr327Asn)
c.911C>A (p.Thr304Asn)
c.775C>A
c.752C>A (p.Thr251Asn)
c.740C>A (p.Thr247Asn)
c.885C>A (n.885C>A)
c.680C>A (p.Thr227Asn)
c.803C>A (p.Thr268Asn)
c.755C>A (p.Thr252Asn)
c.779C>A (p.Thr260Asn)
c.392C>A (p.Thr131Asn)
7g.128398479T>ACA369168504IMPDH1c.901A>T (p.Thr301Ser)
n.884A>T
c.1009A>T (p.Thr337Ser)
c.641A>T
c.979A>T (p.Thr327Ser)
c.910A>T (p.Thr304Ser)
c.774A>T
c.751A>T (p.Thr251Ser)
c.739A>T (p.Thr247Ser)
c.884A>T (n.884A>T)
c.679A>T (p.Thr227Ser)
c.802A>T (p.Thr268Ser)
c.754A>T (p.Thr252Ser)
c.778A>T (p.Thr260Ser)
c.391A>T (p.Thr131Ser)
7g.128398479T>CCA369168507IMPDH1c.901A>G (p.Thr301Ala)
n.884A>G
c.1009A>G (p.Thr337Ala)
c.641A>G
c.979A>G (p.Thr327Ala)
c.910A>G (p.Thr304Ala)
c.774A>G
c.751A>G (p.Thr251Ala)
c.739A>G (p.Thr247Ala)
c.884A>G (n.884A>G)
c.679A>G (p.Thr227Ala)
c.802A>G (p.Thr268Ala)
c.754A>G (p.Thr252Ala)
c.778A>G (p.Thr260Ala)
c.391A>G (p.Thr131Ala)
7g.128398479T>GCA369168509IMPDH1c.901A>C (p.Thr301Pro)
n.884A>C
c.1009A>C (p.Thr337Pro)
c.641A>C
c.979A>C (p.Thr327Pro)
c.910A>C (p.Thr304Pro)
c.774A>C
c.751A>C (p.Thr251Pro)
c.739A>C (p.Thr247Pro)
c.884A>C (n.884A>C)
c.679A>C (p.Thr227Pro)
c.802A>C (p.Thr268Pro)
c.754A>C (p.Thr252Pro)
c.778A>C (p.Thr260Pro)
c.391A>C (p.Thr131Pro)
7g.128398480G>ACA457528239IMPDH1c.900C>T (p.Gly300=)
n.883C>T
c.1008C>T (p.Gly336=)
c.640C>T
c.978C>T (p.Gly326=)
c.909C>T (p.Gly303=)
c.773C>T
c.750C>T (p.Gly250=)
c.738C>T (p.Gly246=)
c.883C>T (n.883C>T)
c.678C>T (p.Gly226=)
c.801C>T (p.Gly267=)
c.753C>T (p.Gly251=)
c.777C>T (p.Gly259=)
c.390C>T (p.Gly130=)
 gnomAD v4
7g.128398480G>CCA457528240IMPDH1c.900C>G (p.Gly300=)
n.883C>G
c.1008C>G (p.Gly336=)
c.640C>G
c.978C>G (p.Gly326=)
c.909C>G (p.Gly303=)
c.773C>G
c.750C>G (p.Gly250=)
c.738C>G (p.Gly246=)
c.883C>G (n.883C>G)
c.678C>G (p.Gly226=)
c.801C>G (p.Gly267=)
c.753C>G (p.Gly251=)
c.777C>G (p.Gly259=)
c.390C>G (p.Gly130=)
7g.128398480G>TCA457528241IMPDH1c.900C>A (p.Gly300=)
n.883C>A
c.1008C>A (p.Gly336=)
c.640C>A
c.978C>A (p.Gly326=)
c.909C>A (p.Gly303=)
c.773C>A
c.750C>A (p.Gly250=)
c.738C>A (p.Gly246=)
c.883C>A (n.883C>A)
c.678C>A (p.Gly226=)
c.801C>A (p.Gly267=)
c.753C>A (p.Gly251=)
c.777C>A (p.Gly259=)
c.390C>A (p.Gly130=)
7g.128398481C>ACA369168513IMPDH1c.899G>T (p.Gly300Val)
n.882G>T
c.1007G>T (p.Gly336Val)
c.639G>T
c.977G>T (p.Gly326Val)
c.908G>T (p.Gly303Val)
c.772G>T
c.749G>T (p.Gly250Val)
c.737G>T (p.Gly246Val)
c.882G>T (n.882G>T)
c.677G>T (p.Gly226Val)
c.800G>T (p.Gly267Val)
c.752G>T (p.Gly251Val)
c.776G>T (p.Gly259Val)
c.389G>T (p.Gly130Val)
7g.128398481C>GCA369168515IMPDH1c.899G>C (p.Gly300Ala)
n.882G>C
c.1007G>C (p.Gly336Ala)
c.639G>C
c.977G>C (p.Gly326Ala)
c.908G>C (p.Gly303Ala)
c.772G>C
c.749G>C (p.Gly250Ala)
c.737G>C (p.Gly246Ala)
c.882G>C (n.882G>C)
c.677G>C (p.Gly226Ala)
c.800G>C (p.Gly267Ala)
c.752G>C (p.Gly251Ala)
c.776G>C (p.Gly259Ala)
c.389G>C (p.Gly130Ala)
7g.128398481C>TCA369168514IMPDH1c.899G>A (p.Gly300Asp)
n.882G>A
c.1007G>A (p.Gly336Asp)
c.639G>A
c.977G>A (p.Gly326Asp)
c.908G>A (p.Gly303Asp)
c.772G>A
c.749G>A (p.Gly250Asp)
c.737G>A (p.Gly246Asp)
c.882G>A (n.882G>A)
c.677G>A (p.Gly226Asp)
c.800G>A (p.Gly267Asp)
c.752G>A (p.Gly251Asp)
c.776G>A (p.Gly259Asp)
c.389G>A (p.Gly130Asp)
7g.128398482C>ACA369168522IMPDH1c.898G>T (p.Gly300Cys)
n.881G>T
c.1006G>T (p.Gly336Cys)
c.638G>T
c.976G>T (p.Gly326Cys)
c.907G>T (p.Gly303Cys)
c.771G>T
c.748G>T (p.Gly250Cys)
c.736G>T (p.Gly246Cys)
c.881G>T (n.881G>T)
c.676G>T (p.Gly226Cys)
c.799G>T (p.Gly267Cys)
c.751G>T (p.Gly251Cys)
c.775G>T (p.Gly259Cys)
c.388G>T (p.Gly130Cys)
7g.128398482C>GCA369168526IMPDH1c.898G>C (p.Gly300Arg)
n.881G>C
c.1006G>C (p.Gly336Arg)
c.638G>C
c.976G>C (p.Gly326Arg)
c.907G>C (p.Gly303Arg)
c.771G>C
c.748G>C (p.Gly250Arg)
c.736G>C (p.Gly246Arg)
c.881G>C (n.881G>C)
c.676G>C (p.Gly226Arg)
c.799G>C (p.Gly267Arg)
c.751G>C (p.Gly251Arg)
c.775G>C (p.Gly259Arg)
c.388G>C (p.Gly130Arg)
7g.128398482C>TCA369168530IMPDH1c.898G>A (p.Gly300Ser)
n.881G>A
c.1006G>A (p.Gly336Ser)
c.638G>A
c.976G>A (p.Gly326Ser)
c.907G>A (p.Gly303Ser)
c.771G>A
c.748G>A (p.Gly250Ser)
c.736G>A (p.Gly246Ser)
c.881G>A (n.881G>A)
c.676G>A (p.Gly226Ser)
c.799G>A (p.Gly267Ser)
c.751G>A (p.Gly251Ser)
c.775G>A (p.Gly259Ser)
c.388G>A (p.Gly130Ser)
7g.128398483C>ACA457528244IMPDH1c.897G>T (p.Val299=)
n.880G>T
c.1005G>T (p.Val335=)
c.637G>T
c.975G>T (p.Val325=)
c.906G>T (p.Val302=)
c.770G>T
c.747G>T (p.Val249=)
c.735G>T (p.Val245=)
c.880G>T (n.880G>T)
c.675G>T (p.Val225=)
c.798G>T (p.Val266=)
c.750G>T (p.Val250=)
c.774G>T (p.Val258=)
c.387G>T (p.Val129=)
7g.128398483C>GCA457528245IMPDH1c.897G>C (p.Val299=)
n.880G>C
c.1005G>C (p.Val335=)
c.637G>C
c.975G>C (p.Val325=)
c.906G>C (p.Val302=)
c.770G>C
c.747G>C (p.Val249=)
c.735G>C (p.Val245=)
c.880G>C (n.880G>C)
c.675G>C (p.Val225=)
c.798G>C (p.Val266=)
c.750G>C (p.Val250=)
c.774G>C (p.Val258=)
c.387G>C (p.Val129=)
7g.128398483C>TCA457528247IMPDH1c.897G>A (p.Val299=)
n.880G>A
c.1005G>A (p.Val335=)
c.637G>A
c.975G>A (p.Val325=)
c.906G>A (p.Val302=)
c.770G>A
c.747G>A (p.Val249=)
c.735G>A (p.Val245=)
c.880G>A (n.880G>A)
c.675G>A (p.Val225=)
c.798G>A (p.Val266=)
c.750G>A (p.Val250=)
c.774G>A (p.Val258=)
c.387G>A (p.Val129=)
7g.128398484A>CCA369168533IMPDH1c.896T>G (p.Val299Gly)
n.879T>G
c.1004T>G (p.Val335Gly)
c.636T>G
c.974T>G (p.Val325Gly)
c.905T>G (p.Val302Gly)
c.769T>G
c.746T>G (p.Val249Gly)
c.734T>G (p.Val245Gly)
c.879T>G (n.879T>G)
c.674T>G (p.Val225Gly)
c.797T>G (p.Val266Gly)
c.749T>G (p.Val250Gly)
c.773T>G (p.Val258Gly)
c.386T>G (p.Val129Gly)
7g.128398484A>GCA369168535IMPDH1c.896T>C (p.Val299Ala)
n.879T>C
c.1004T>C (p.Val335Ala)
c.636T>C
c.974T>C (p.Val325Ala)
c.905T>C (p.Val302Ala)
c.769T>C
c.746T>C (p.Val249Ala)
c.734T>C (p.Val245Ala)
c.879T>C (n.879T>C)
c.674T>C (p.Val225Ala)
c.797T>C (p.Val266Ala)
c.749T>C (p.Val250Ala)
c.773T>C (p.Val258Ala)
c.386T>C (p.Val129Ala)
 gnomAD v4
7g.128398484A>TCA369168537IMPDH1c.896T>A (p.Val299Glu)
n.879T>A
c.1004T>A (p.Val335Glu)
c.636T>A
c.974T>A (p.Val325Glu)
c.905T>A (p.Val302Glu)
c.769T>A
c.746T>A (p.Val249Glu)
c.734T>A (p.Val245Glu)
c.879T>A (n.879T>A)
c.674T>A (p.Val225Glu)
c.797T>A (p.Val266Glu)
c.749T>A (p.Val250Glu)
c.773T>A (p.Val258Glu)
c.386T>A (p.Val129Glu)
7g.128398485C>ACA369168539IMPDH1c.895G>T (p.Val299Leu)
n.878G>T
c.1003G>T (p.Val335Leu)
c.635G>T
c.973G>T (p.Val325Leu)
c.904G>T (p.Val302Leu)
c.768G>T
c.745G>T (p.Val249Leu)
c.733G>T (p.Val245Leu)
c.878G>T (n.878G>T)
c.673G>T (p.Val225Leu)
c.796G>T (p.Val266Leu)
c.748G>T (p.Val250Leu)
c.772G>T (p.Val258Leu)
c.385G>T (p.Val129Leu)
7g.128398485C>GCA369168540IMPDH1c.895G>C (p.Val299Leu)
n.878G>C
c.1003G>C (p.Val335Leu)
c.635G>C
c.973G>C (p.Val325Leu)
c.904G>C (p.Val302Leu)
c.768G>C
c.745G>C (p.Val249Leu)
c.733G>C (p.Val245Leu)
c.878G>C (n.878G>C)
c.673G>C (p.Val225Leu)
c.796G>C (p.Val266Leu)
c.748G>C (p.Val250Leu)
c.772G>C (p.Val258Leu)
c.385G>C (p.Val129Leu)
7g.128398485C>TCA369168541IMPDH1c.895G>A (p.Val299Met)
n.878G>A
c.1003G>A (p.Val335Met)
c.635G>A
c.973G>A (p.Val325Met)
c.904G>A (p.Val302Met)
c.768G>A
c.745G>A (p.Val249Met)
c.733G>A (p.Val245Met)
c.878G>A (n.878G>A)
c.673G>A (p.Val225Met)
c.796G>A (p.Val266Met)
c.748G>A (p.Val250Met)
c.772G>A (p.Val258Met)
c.385G>A (p.Val129Met)
7g.128398486A>CCA457528249IMPDH1c.894T>G (p.Ala298=)
n.877T>G
c.1002T>G (p.Ala334=)
c.634T>G
c.972T>G (p.Ala324=)
c.903T>G (p.Ala301=)
c.767T>G
c.744T>G (p.Ala248=)
c.732T>G (p.Ala244=)
c.877T>G (n.877T>G)
c.672T>G (p.Ala224=)
c.795T>G (p.Ala265=)
c.747T>G (p.Ala249=)
c.771T>G (p.Ala257=)
c.384T>G (p.Ala128=)
7g.128398486A>GCA457528251IMPDH1c.894T>C (p.Ala298=)
n.877T>C
c.1002T>C (p.Ala334=)
c.634T>C
c.972T>C (p.Ala324=)
c.903T>C (p.Ala301=)
c.767T>C
c.744T>C (p.Ala248=)
c.732T>C (p.Ala244=)
c.877T>C (n.877T>C)
c.672T>C (p.Ala224=)
c.795T>C (p.Ala265=)
c.747T>C (p.Ala249=)
c.771T>C (p.Ala257=)
c.384T>C (p.Ala128=)
7g.128398486A>TCA457528252IMPDH1c.894T>A (p.Ala298=)
n.877T>A
c.1002T>A (p.Ala334=)
c.634T>A
c.972T>A (p.Ala324=)
c.903T>A (p.Ala301=)
c.767T>A
c.744T>A (p.Ala248=)
c.732T>A (p.Ala244=)
c.877T>A (n.877T>A)
c.672T>A (p.Ala224=)
c.795T>A (p.Ala265=)
c.747T>A (p.Ala249=)
c.771T>A (p.Ala257=)
c.384T>A (p.Ala128=)
7g.128398487G>ACA369168544IMPDH1c.893C>T (p.Ala298Val)
n.876C>T
c.1001C>T (p.Ala334Val)
c.633C>T
c.971C>T (p.Ala324Val)
c.902C>T (p.Ala301Val)
c.766C>T
c.743C>T (p.Ala248Val)
c.731C>T (p.Ala244Val)
c.876C>T (n.876C>T)
c.671C>T (p.Ala224Val)
c.794C>T (p.Ala265Val)
c.746C>T (p.Ala249Val)
c.770C>T (p.Ala257Val)
c.383C>T (p.Ala128Val)
7g.128398487G>CCA369168548IMPDH1c.893C>G (p.Ala298Gly)
n.876C>G
c.1001C>G (p.Ala334Gly)
c.633C>G
c.971C>G (p.Ala324Gly)
c.902C>G (p.Ala301Gly)
c.766C>G
c.743C>G (p.Ala248Gly)
c.731C>G (p.Ala244Gly)
c.876C>G (n.876C>G)
c.671C>G (p.Ala224Gly)
c.794C>G (p.Ala265Gly)
c.746C>G (p.Ala249Gly)
c.770C>G (p.Ala257Gly)
c.383C>G (p.Ala128Gly)
7g.128398487G>TCA369168562IMPDH1c.893C>A (p.Ala298Asp)
n.876C>A
c.1001C>A (p.Ala334Asp)
c.633C>A
c.971C>A (p.Ala324Asp)
c.902C>A (p.Ala301Asp)
c.766C>A
c.743C>A (p.Ala248Asp)
c.731C>A (p.Ala244Asp)
c.876C>A (n.876C>A)
c.671C>A (p.Ala224Asp)
c.794C>A (p.Ala265Asp)
c.746C>A (p.Ala249Asp)
c.770C>A (p.Ala257Asp)
c.383C>A (p.Ala128Asp)
7g.128398488C>ACA369168572IMPDH1c.892G>T (p.Ala298Ser)
n.875G>T
c.1000G>T (p.Ala334Ser)
c.632G>T
c.970G>T (p.Ala324Ser)
c.901G>T (p.Ala301Ser)
c.765G>T
c.742G>T (p.Ala248Ser)
c.730G>T (p.Ala244Ser)
c.875G>T (n.875G>T)
c.670G>T (p.Ala224Ser)
c.793G>T (p.Ala265Ser)
c.745G>T (p.Ala249Ser)
c.769G>T (p.Ala257Ser)
c.382G>T (p.Ala128Ser)
7g.128398488C>GCA369168573IMPDH1c.892G>C (p.Ala298Pro)
n.875G>C
c.1000G>C (p.Ala334Pro)
c.632G>C
c.970G>C (p.Ala324Pro)
c.901G>C (p.Ala301Pro)
c.765G>C
c.742G>C (p.Ala248Pro)
c.730G>C (p.Ala244Pro)
c.875G>C (n.875G>C)
c.670G>C (p.Ala224Pro)
c.793G>C (p.Ala265Pro)
c.745G>C (p.Ala249Pro)
c.769G>C (p.Ala257Pro)
c.382G>C (p.Ala128Pro)
7g.128398488C>TCA369168568IMPDH1c.892G>A (p.Ala298Thr)
n.875G>A
c.1000G>A (p.Ala334Thr)
c.632G>A
c.970G>A (p.Ala324Thr)
c.901G>A (p.Ala301Thr)
c.765G>A
c.742G>A (p.Ala248Thr)
c.730G>A (p.Ala244Thr)
c.875G>A (n.875G>A)
c.670G>A (p.Ala224Thr)
c.793G>A (p.Ala265Thr)
c.745G>A (p.Ala249Thr)
c.769G>A (p.Ala257Thr)
c.382G>A (p.Ala128Thr)
7g.128398489T>ACA457528257IMPDH1c.891A>T (p.Ala297=)
n.874A>T
c.999A>T (p.Ala333=)
c.631A>T
c.969A>T (p.Ala323=)
c.900A>T (p.Ala300=)
c.764A>T
c.741A>T (p.Ala247=)
c.729A>T (p.Ala243=)
c.874A>T (n.874A>T)
c.669A>T (p.Ala223=)
c.792A>T (p.Ala264=)
c.744A>T (p.Ala248=)
c.768A>T (p.Ala256=)
c.381A>T (p.Ala127=)
7g.128398489T>CCA457528258IMPDH1c.891A>G (p.Ala297=)
n.874A>G
c.999A>G (p.Ala333=)
c.631A>G
c.969A>G (p.Ala323=)
c.900A>G (p.Ala300=)
c.764A>G
c.741A>G (p.Ala247=)
c.729A>G (p.Ala243=)
c.874A>G (n.874A>G)
c.669A>G (p.Ala223=)
c.792A>G (p.Ala264=)
c.744A>G (p.Ala248=)
c.768A>G (p.Ala256=)
c.381A>G (p.Ala127=)
7g.128398489T>GCA457528255IMPDH1c.891A>C (p.Ala297=)
n.874A>C
c.999A>C (p.Ala333=)
c.631A>C
c.969A>C (p.Ala323=)
c.900A>C (p.Ala300=)
c.764A>C
c.741A>C (p.Ala247=)
c.729A>C (p.Ala243=)
c.874A>C (n.874A>C)
c.669A>C (p.Ala223=)
c.792A>C (p.Ala264=)
c.744A>C (p.Ala248=)
c.768A>C (p.Ala256=)
c.381A>C (p.Ala127=)
7g.128398490G>ACA369168580IMPDH1c.890C>T (p.Ala297Val)
n.873C>T
c.998C>T (p.Ala333Val)
c.630C>T
c.968C>T (p.Ala323Val)
c.899C>T (p.Ala300Val)
n.587C>T
c.763C>T
c.740C>T (p.Ala247Val)
c.728C>T (p.Ala243Val)
c.873C>T (n.873C>T)
c.668C>T (p.Ala223Val)
c.791C>T (p.Ala264Val)
c.743C>T (p.Ala248Val)
c.767C>T (p.Ala256Val)
c.380C>T (p.Ala127Val)
7g.128398490G>CCA369168590IMPDH1c.890C>G (p.Ala297Gly)
n.873C>G
c.998C>G (p.Ala333Gly)
c.630C>G
c.968C>G (p.Ala323Gly)
c.899C>G (p.Ala300Gly)
n.587C>G
c.763C>G
c.740C>G (p.Ala247Gly)
c.728C>G (p.Ala243Gly)
c.873C>G (n.873C>G)
c.668C>G (p.Ala223Gly)
c.791C>G (p.Ala264Gly)
c.743C>G (p.Ala248Gly)
c.767C>G (p.Ala256Gly)
c.380C>G (p.Ala127Gly)
7g.128398490G>TCA369168582IMPDH1c.890C>A (p.Ala297Glu)
n.873C>A
c.998C>A (p.Ala333Glu)
c.630C>A
c.968C>A (p.Ala323Glu)
c.899C>A (p.Ala300Glu)
n.587C>A
c.763C>A
c.740C>A (p.Ala247Glu)
c.728C>A (p.Ala243Glu)
c.873C>A (n.873C>A)
c.668C>A (p.Ala223Glu)
c.791C>A (p.Ala264Glu)
c.743C>A (p.Ala248Glu)
c.767C>A (p.Ala256Glu)
c.380C>A (p.Ala127Glu)
7g.128398491C>ACA369168598IMPDH1c.889G>T (p.Ala297Ser)
n.872G>T
c.997G>T (p.Ala333Ser)
c.629G>T
c.967G>T (p.Ala323Ser)
c.898G>T (p.Ala300Ser)
n.586G>T
c.762G>T
c.739G>T (p.Ala247Ser)
c.727G>T (p.Ala243Ser)
c.872G>T (n.872G>T)
c.667G>T (p.Ala223Ser)
c.790G>T (p.Ala264Ser)
c.742G>T (p.Ala248Ser)
c.766G>T (p.Ala256Ser)
c.379G>T (p.Ala127Ser)
 dbSNP gnomAD v4
7g.128398491C=CA1742328017IMPDH1c.889G= (p.Ala297=)
n.872G=
c.997G= (p.Ala333=)
c.629G=
c.967G= (p.Ala323=)
c.898G= (p.Ala300=)
n.586G=
c.762G=
c.739G= (p.Ala247=)
c.727G= (p.Ala243=)
c.872G= (n.872G=)
c.667G= (p.Ala223=)
c.790G= (p.Ala264=)
c.742G= (p.Ala248=)
c.766G= (p.Ala256=)
c.379G= (p.Ala127=)
7g.128398491C>GCA369168609IMPDH1c.889G>C (p.Ala297Pro)
n.872G>C
c.997G>C (p.Ala333Pro)
c.629G>C
c.967G>C (p.Ala323Pro)
c.898G>C (p.Ala300Pro)
n.586G>C
c.762G>C
c.739G>C (p.Ala247Pro)
c.727G>C (p.Ala243Pro)
c.872G>C (n.872G>C)
c.667G>C (p.Ala223Pro)
c.790G>C (p.Ala264Pro)
c.742G>C (p.Ala248Pro)
c.766G>C (p.Ala256Pro)
c.379G>C (p.Ala127Pro)
7g.128398491C>TCA369168613IMPDH1c.889G>A (p.Ala297Thr)
n.872G>A
c.997G>A (p.Ala333Thr)
c.629G>A
c.967G>A (p.Ala323Thr)
c.898G>A (p.Ala300Thr)
n.586G>A
c.762G>A
c.739G>A (p.Ala247Thr)
c.727G>A (p.Ala243Thr)
c.872G>A (n.872G>A)
c.667G>A (p.Ala223Thr)
c.790G>A (p.Ala264Thr)
c.742G>A (p.Ala248Thr)
c.766G>A (p.Ala256Thr)
c.379G>A (p.Ala127Thr)
7g.128398492C>ACA457528261IMPDH1c.888G>T (p.Gly296=)
n.871G>T
c.996G>T (p.Gly332=)
c.628G>T
c.966G>T (p.Gly322=)
c.897G>T (p.Gly299=)
n.585G>T
c.761G>T
c.738G>T (p.Gly246=)
c.726G>T (p.Gly242=)
c.871G>T (n.871G>T)
c.666G>T (p.Gly222=)
c.789G>T (p.Gly263=)
c.741G>T (p.Gly247=)
c.765G>T (p.Gly255=)
c.378G>T (p.Gly126=)
7g.128398492C>GCA457528260IMPDH1c.888G>C (p.Gly296=)
n.871G>C
c.996G>C (p.Gly332=)
c.628G>C
c.966G>C (p.Gly322=)
c.897G>C (p.Gly299=)
n.585G>C
c.761G>C
c.738G>C (p.Gly246=)
c.726G>C (p.Gly242=)
c.871G>C (n.871G>C)
c.666G>C (p.Gly222=)
c.789G>C (p.Gly263=)
c.741G>C (p.Gly247=)
c.765G>C (p.Gly255=)
c.378G>C (p.Gly126=)
7g.128398492C>TCA457528259IMPDH1c.888G>A (p.Gly296=)
n.871G>A
c.996G>A (p.Gly332=)
c.628G>A
c.966G>A (p.Gly322=)
c.897G>A (p.Gly299=)
n.585G>A
c.761G>A
c.738G>A (p.Gly246=)
c.726G>A (p.Gly242=)
c.871G>A (n.871G>A)
c.666G>A (p.Gly222=)
c.789G>A (p.Gly263=)
c.741G>A (p.Gly247=)
c.765G>A (p.Gly255=)
c.378G>A (p.Gly126=)
7g.128398493C>ACA369168625IMPDH1c.887G>T (p.Gly296Val)
n.870G>T
c.995G>T (p.Gly332Val)
c.627G>T
c.965G>T (p.Gly322Val)
c.896G>T (p.Gly299Val)
n.584G>T
c.760G>T
c.737G>T (p.Gly246Val)
c.725G>T (p.Gly242Val)
c.870G>T (n.870G>T)
c.665G>T (p.Gly222Val)
c.788G>T (p.Gly263Val)
c.740G>T (p.Gly247Val)
c.764G>T (p.Gly255Val)
c.377G>T (p.Gly126Val)
7g.128398493C>GCA369168642IMPDH1c.887G>C (p.Gly296Ala)
n.870G>C
c.995G>C (p.Gly332Ala)
c.627G>C
c.965G>C (p.Gly322Ala)
c.896G>C (p.Gly299Ala)
n.584G>C
c.760G>C
c.737G>C (p.Gly246Ala)
c.725G>C (p.Gly242Ala)
c.870G>C (n.870G>C)
c.665G>C (p.Gly222Ala)
c.788G>C (p.Gly263Ala)
c.740G>C (p.Gly247Ala)
c.764G>C (p.Gly255Ala)
c.377G>C (p.Gly126Ala)
7g.128398493C>TCA369168645IMPDH1c.887G>A (p.Gly296Glu)
n.870G>A
c.995G>A (p.Gly332Glu)
c.627G>A
c.965G>A (p.Gly322Glu)
c.896G>A (p.Gly299Glu)
n.584G>A
c.760G>A
c.737G>A (p.Gly246Glu)
c.725G>A (p.Gly242Glu)
c.870G>A (n.870G>A)
c.665G>A (p.Gly222Glu)
c.788G>A (p.Gly263Glu)
c.740G>A (p.Gly247Glu)
c.764G>A (p.Gly255Glu)
c.377G>A (p.Gly126Glu)
7g.128398494C>ACA369168649IMPDH1c.886G>T (p.Gly296Trp)
n.869G>T
c.994G>T (p.Gly332Trp)
c.626G>T
c.964G>T (p.Gly322Trp)
c.895G>T (p.Gly299Trp)
n.583G>T
c.759G>T
c.736G>T (p.Gly246Trp)
c.724G>T (p.Gly242Trp)
c.869G>T (n.869G>T)
c.664G>T (p.Gly222Trp)
c.787G>T (p.Gly263Trp)
c.739G>T (p.Gly247Trp)
c.763G>T (p.Gly255Trp)
c.376G>T (p.Gly126Trp)
7g.128398494C>GCA369168661IMPDH1c.886G>C (p.Gly296Arg)
n.869G>C
c.994G>C (p.Gly332Arg)
c.626G>C
c.964G>C (p.Gly322Arg)
c.895G>C (p.Gly299Arg)
n.583G>C
c.759G>C
c.736G>C (p.Gly246Arg)
c.724G>C (p.Gly242Arg)
c.869G>C (n.869G>C)
c.664G>C (p.Gly222Arg)
c.787G>C (p.Gly263Arg)
c.739G>C (p.Gly247Arg)
c.763G>C (p.Gly255Arg)
c.376G>C (p.Gly126Arg)
7g.128398494C>TCA369168667IMPDH1c.886G>A (p.Gly296Arg)
n.869G>A
c.994G>A (p.Gly332Arg)
c.626G>A
c.964G>A (p.Gly322Arg)
c.895G>A (p.Gly299Arg)
n.583G>A
c.759G>A
c.736G>A (p.Gly246Arg)
c.724G>A (p.Gly242Arg)
c.869G>A (n.869G>A)
c.664G>A (p.Gly222Arg)
c.787G>A (p.Gly263Arg)
c.739G>A (p.Gly247Arg)
c.763G>A (p.Gly255Arg)
c.376G>A (p.Gly126Arg)
 gnomAD v4
7g.128398495A>CCA369168676IMPDH1c.885T>G (p.Cys295Trp)
n.868T>G
c.993T>G (p.Cys331Trp)
c.625T>G
c.963T>G (p.Cys321Trp)
c.894T>G (p.Cys298Trp)
n.582T>G
c.758T>G
c.735T>G (p.Cys245Trp)
c.723T>G (p.Cys241Trp)
c.868T>G (n.868T>G)
c.663T>G (p.Cys221Trp)
c.786T>G (p.Cys262Trp)
c.738T>G (p.Cys246Trp)
c.762T>G (p.Cys254Trp)
c.375T>G (p.Cys125Trp)
7g.128398495A>GCA457528263IMPDH1c.885T>C (p.Cys295=)
n.868T>C
c.993T>C (p.Cys331=)
c.625T>C
c.963T>C (p.Cys321=)
c.894T>C (p.Cys298=)
n.582T>C
c.758T>C
c.735T>C (p.Cys245=)
c.723T>C (p.Cys241=)
c.868T>C (n.868T>C)
c.663T>C (p.Cys221=)
c.786T>C (p.Cys262=)
c.738T>C (p.Cys246=)
c.762T>C (p.Cys254=)
c.375T>C (p.Cys125=)
7g.128398495A>TCA369168687IMPDH1c.885T>A (p.Cys295Ter)
n.868T>A
c.993T>A (p.Cys331Ter)
c.625T>A
c.963T>A (p.Cys321Ter)
c.894T>A (p.Cys298Ter)
n.582T>A
c.758T>A
c.735T>A (p.Cys245Ter)
c.723T>A (p.Cys241Ter)
c.868T>A (n.868T>A)
c.663T>A (p.Cys221Ter)
c.786T>A (p.Cys262Ter)
c.738T>A (p.Cys246Ter)
c.762T>A (p.Cys254Ter)
c.375T>A (p.Cys125Ter)
7g.128398496C>ACA369168702IMPDH1c.884G>T (p.Cys295Phe)
n.867G>T
c.992G>T (p.Cys331Phe)
c.624G>T
c.962G>T (p.Cys321Phe)
c.893G>T (p.Cys298Phe)
n.581G>T
c.757G>T
c.734G>T (p.Cys245Phe)
c.722G>T (p.Cys241Phe)
c.867G>T (n.867G>T)
c.662G>T (p.Cys221Phe)
c.785G>T (p.Cys262Phe)
c.737G>T (p.Cys246Phe)
c.761G>T (p.Cys254Phe)
c.374G>T (p.Cys125Phe)
7g.128398496C>GCA369168699IMPDH1c.884G>C (p.Cys295Ser)
n.867G>C
c.992G>C (p.Cys331Ser)
c.624G>C
c.962G>C (p.Cys321Ser)
c.893G>C (p.Cys298Ser)
n.581G>C
c.757G>C
c.734G>C (p.Cys245Ser)
c.722G>C (p.Cys241Ser)
c.867G>C (n.867G>C)
c.662G>C (p.Cys221Ser)
c.785G>C (p.Cys262Ser)
c.737G>C (p.Cys246Ser)
c.761G>C (p.Cys254Ser)
c.374G>C (p.Cys125Ser)
 ClinVar dbSNP
7g.128398496C>TCA369168692IMPDH1c.884G>A (p.Cys295Tyr)
n.867G>A
c.992G>A (p.Cys331Tyr)
c.624G>A
c.962G>A (p.Cys321Tyr)
c.893G>A (p.Cys298Tyr)
n.581G>A
c.757G>A
c.734G>A (p.Cys245Tyr)
c.722G>A (p.Cys241Tyr)
c.867G>A (n.867G>A)
c.662G>A (p.Cys221Tyr)
c.785G>A (p.Cys262Tyr)
c.737G>A (p.Cys246Tyr)
c.761G>A (p.Cys254Tyr)
c.374G>A (p.Cys125Tyr)
 gnomAD v4
7g.128398497A>CCA369168707IMPDH1c.883T>G (p.Cys295Gly)
n.866T>G
c.991T>G (p.Cys331Gly)
c.623T>G
c.961T>G (p.Cys321Gly)
c.892T>G (p.Cys298Gly)
n.580T>G
c.756T>G
c.733T>G (p.Cys245Gly)
c.721T>G (p.Cys241Gly)
c.866T>G (n.866T>G)
c.661T>G (p.Cys221Gly)
c.784T>G (p.Cys262Gly)
c.736T>G (p.Cys246Gly)
c.760T>G (p.Cys254Gly)
c.373T>G (p.Cys125Gly)
7g.128398497A>GCA369168710IMPDH1c.883T>C (p.Cys295Arg)
n.866T>C
c.991T>C (p.Cys331Arg)
c.623T>C
c.961T>C (p.Cys321Arg)
c.892T>C (p.Cys298Arg)
n.580T>C
c.756T>C
c.733T>C (p.Cys245Arg)
c.721T>C (p.Cys241Arg)
c.866T>C (n.866T>C)
c.661T>C (p.Cys221Arg)
c.784T>C (p.Cys262Arg)
c.736T>C (p.Cys246Arg)
c.760T>C (p.Cys254Arg)
c.373T>C (p.Cys125Arg)
7g.128398497A>TCA369168712IMPDH1c.883T>A (p.Cys295Ser)
n.866T>A
c.991T>A (p.Cys331Ser)
c.623T>A
c.961T>A (p.Cys321Ser)
c.892T>A (p.Cys298Ser)
n.580T>A
c.756T>A
c.733T>A (p.Cys245Ser)
c.721T>A (p.Cys241Ser)
c.866T>A (n.866T>A)
c.661T>A (p.Cys221Ser)
c.784T>A (p.Cys262Ser)
c.736T>A (p.Cys246Ser)
c.760T>A (p.Cys254Ser)
c.373T>A (p.Cys125Ser)
7g.128398498G>ACA457528267IMPDH1c.882C>T (p.Leu294=)
n.865C>T
c.990C>T (p.Leu330=)
c.622C>T
c.960C>T (p.Leu320=)
c.891C>T (p.Leu297=)
n.579C>T
c.755C>T
c.732C>T (p.Leu244=)
c.720C>T (p.Leu240=)
c.865C>T (n.865C>T)
c.660C>T (p.Leu220=)
c.783C>T (p.Leu261=)
c.735C>T (p.Leu245=)
c.759C>T (p.Leu253=)
c.372C>T (p.Leu124=)
7g.128398498G>CCA457528268IMPDH1c.882C>G (p.Leu294=)
n.865C>G
c.990C>G (p.Leu330=)
c.622C>G
c.960C>G (p.Leu320=)
c.891C>G (p.Leu297=)
n.579C>G
c.755C>G
c.732C>G (p.Leu244=)
c.720C>G (p.Leu240=)
c.865C>G (n.865C>G)
c.660C>G (p.Leu220=)
c.783C>G (p.Leu261=)
c.735C>G (p.Leu245=)
c.759C>G (p.Leu253=)
c.372C>G (p.Leu124=)
7g.128398498G=CA1742328018IMPDH1c.882C= (p.Leu294=)
n.865C=
c.990C= (p.Leu330=)
c.622C=
c.960C= (p.Leu320=)
c.891C= (p.Leu297=)
n.579C=
c.755C=
c.732C= (p.Leu244=)
c.720C= (p.Leu240=)
c.865C= (n.865C=)
c.660C= (p.Leu220=)
c.783C= (p.Leu261=)
c.735C= (p.Leu245=)
c.759C= (p.Leu253=)
c.372C= (p.Leu124=)
7g.128398498G>TCA457528269IMPDH1c.882C>A (p.Leu294=)
n.865C>A
c.990C>A (p.Leu330=)
c.622C>A
c.960C>A (p.Leu320=)
c.891C>A (p.Leu297=)
n.579C>A
c.755C>A
c.732C>A (p.Leu244=)
c.720C>A (p.Leu240=)
c.865C>A (n.865C>A)
c.660C>A (p.Leu220=)
c.783C>A (p.Leu261=)
c.735C>A (p.Leu245=)
c.759C>A (p.Leu253=)
c.372C>A (p.Leu124=)
7g.128398499A=CA1742328029IMPDH1c.881T= (p.Leu294=)
n.864T=
c.989T= (p.Leu330=)
c.621T=
c.959T= (p.Leu320=)
c.890T= (p.Leu297=)
n.578T=
c.754T=
c.731T= (p.Leu244=)
c.719T= (p.Leu240=)
c.864T= (n.864T=)
c.659T= (p.Leu220=)
c.782T= (p.Leu261=)
c.734T= (p.Leu245=)
c.758T= (p.Leu253=)
c.371T= (p.Leu124=)
7g.128398499A>CCA369168716IMPDH1c.881T>G (p.Leu294Arg)
n.864T>G
c.989T>G (p.Leu330Arg)
c.621T>G
c.959T>G (p.Leu320Arg)
c.890T>G (p.Leu297Arg)
n.578T>G
c.754T>G
c.731T>G (p.Leu244Arg)
c.719T>G (p.Leu240Arg)
c.864T>G (n.864T>G)
c.659T>G (p.Leu220Arg)
c.782T>G (p.Leu261Arg)
c.734T>G (p.Leu245Arg)
c.758T>G (p.Leu253Arg)
c.371T>G (p.Leu124Arg)
7g.128398499A>GCA369168718IMPDH1c.881T>C (p.Leu294Pro)
n.864T>C
c.989T>C (p.Leu330Pro)
c.621T>C
c.959T>C (p.Leu320Pro)
c.890T>C (p.Leu297Pro)
n.578T>C
c.754T>C
c.731T>C (p.Leu244Pro)
c.719T>C (p.Leu240Pro)
c.864T>C (n.864T>C)
c.659T>C (p.Leu220Pro)
c.782T>C (p.Leu261Pro)
c.734T>C (p.Leu245Pro)
c.758T>C (p.Leu253Pro)
c.371T>C (p.Leu124Pro)
 dbSNP gnomAD v2 gnomAD v4
7g.128398499A>TCA369168725IMPDH1c.881T>A (p.Leu294His)
n.864T>A
c.989T>A (p.Leu330His)
c.621T>A
c.959T>A (p.Leu320His)
c.890T>A (p.Leu297His)
n.578T>A
c.754T>A
c.731T>A (p.Leu244His)
c.719T>A (p.Leu240His)
c.864T>A (n.864T>A)
c.659T>A (p.Leu220His)
c.782T>A (p.Leu261His)
c.734T>A (p.Leu245His)
c.758T>A (p.Leu253His)
c.371T>A (p.Leu124His)
7g.128398502_128398504dupCA916082961IMPDH1c.879_881dup (p.Leu294_Cys295insLeu)
n.862_864dup
c.987_989dup (p.Leu330_Cys331insLeu)
c.619_621dup
c.957_959dup (p.Leu320_Cys321insLeu)
c.888_890dup (p.Leu297_Cys298insLeu)
n.576_578dup
c.752_754dup
c.729_731dup (p.Leu244_Cys245insLeu)
c.717_719dup (p.Leu240_Cys241insLeu)
c.862_864dup (n.862_864dup)
c.657_659dup (p.Leu220_Cys221insLeu)
c.780_782dup (p.Leu261_Cys262insLeu)
c.732_734dup (p.Leu245_Cys246insLeu)
c.756_758dup (p.Leu253_Cys254insLeu)
c.369_371dup (p.Leu124_Cys125insLeu)
 ClinVar dbSNP
7g.128398500G>ACA369168730IMPDH1c.880C>T (p.Leu294Phe)
n.863C>T
c.988C>T (p.Leu330Phe)
c.620C>T
c.958C>T (p.Leu320Phe)
c.889C>T (p.Leu297Phe)
n.577C>T
c.753C>T
c.730C>T (p.Leu244Phe)
c.718C>T (p.Leu240Phe)
c.863C>T (n.863C>T)
c.658C>T (p.Leu220Phe)
c.781C>T (p.Leu261Phe)
c.733C>T (p.Leu245Phe)
c.757C>T (p.Leu253Phe)
c.370C>T (p.Leu124Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.128398500G>CCA369168737IMPDH1c.880C>G (p.Leu294Val)
n.863C>G
c.988C>G (p.Leu330Val)
c.620C>G
c.958C>G (p.Leu320Val)
c.889C>G (p.Leu297Val)
n.577C>G
c.753C>G
c.730C>G (p.Leu244Val)
c.718C>G (p.Leu240Val)
c.863C>G (n.863C>G)
c.658C>G (p.Leu220Val)
c.781C>G (p.Leu261Val)
c.733C>G (p.Leu245Val)
c.757C>G (p.Leu253Val)
c.370C>G (p.Leu124Val)
7g.128398500G=CA1742328049IMPDH1c.880C= (p.Leu294=)
n.863C=
c.988C= (p.Leu330=)
c.620C=
c.958C= (p.Leu320=)
c.889C= (p.Leu297=)
n.577C=
c.753C=
c.730C= (p.Leu244=)
c.718C= (p.Leu240=)
c.863C= (n.863C=)
c.658C= (p.Leu220=)
c.781C= (p.Leu261=)
c.733C= (p.Leu245=)
c.757C= (p.Leu253=)
c.370C= (p.Leu124=)
7g.128398500G>TCA369168741IMPDH1c.880C>A (p.Leu294Ile)
n.863C>A
c.988C>A (p.Leu330Ile)
c.620C>A
c.958C>A (p.Leu320Ile)
c.889C>A (p.Leu297Ile)
n.577C>A
c.753C>A
c.730C>A (p.Leu244Ile)
c.718C>A (p.Leu240Ile)
c.863C>A (n.863C>A)
c.658C>A (p.Leu220Ile)
c.781C>A (p.Leu261Ile)
c.733C>A (p.Leu245Ile)
c.757C>A (p.Leu253Ile)
c.370C>A (p.Leu124Ile)
7g.128398500_128398501delinsCGCA2739278929IMPDH1c.879_880delinsCG (p.Leu294Val)
n.862_863delinsCG
c.987_988delinsCG (p.Leu330Val)
c.619_620delinsCG
c.957_958delinsCG (p.Leu320Val)
c.888_889delinsCG (p.Leu297Val)
n.576_577delinsCG
c.752_753delinsCG
c.729_730delinsCG (p.Leu244Val)
c.717_718delinsCG (p.Leu240Val)
c.862_863delinsCG (n.862_863delinsCG)
c.657_658delinsCG (p.Leu220Val)
c.780_781delinsCG (p.Leu261Val)
c.732_733delinsCG (p.Leu245Val)
c.756_757delinsCG (p.Leu253Val)
c.369_370delinsCG (p.Leu124Val)
 ClinVar
7g.128398501C>ACA457528273IMPDH1c.879G>T (p.Leu293=)
n.862G>T
c.987G>T (p.Leu329=)
c.619G>T
c.957G>T (p.Leu319=)
c.888G>T (p.Leu296=)
n.576G>T
c.752G>T
c.729G>T (p.Leu243=)
c.717G>T (p.Leu239=)
c.862G>T (n.862G>T)
c.657G>T (p.Leu219=)
c.780G>T (p.Leu260=)
c.732G>T (p.Leu244=)
c.756G>T (p.Leu252=)
c.369G>T (p.Leu123=)
7g.128398501C=CA1742328056IMPDH1c.879G= (p.Leu293=)
n.862G=
c.987G= (p.Leu329=)
c.619G=
c.957G= (p.Leu319=)
c.888G= (p.Leu296=)
n.576G=
c.752G=
c.729G= (p.Leu243=)
c.717G= (p.Leu239=)
c.862G= (n.862G=)
c.657G= (p.Leu219=)
c.780G= (p.Leu260=)
c.732G= (p.Leu244=)
c.756G= (p.Leu252=)
c.369G= (p.Leu123=)
7g.128398501C>GCA4470981IMPDH1c.879G>C (p.Leu293=)
n.862G>C
c.987G>C (p.Leu329=)
c.619G>C
c.957G>C (p.Leu319=)
c.888G>C (p.Leu296=)
n.576G>C
c.752G>C
c.729G>C (p.Leu243=)
c.717G>C (p.Leu239=)
c.862G>C (n.862G>C)
c.657G>C (p.Leu219=)
c.780G>C (p.Leu260=)
c.732G>C (p.Leu244=)
c.756G>C (p.Leu252=)
c.369G>C (p.Leu123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398501C>TCA457528274IMPDH1c.879G>A (p.Leu293=)
n.862G>A
c.987G>A (p.Leu329=)
c.619G>A
c.957G>A (p.Leu319=)
c.888G>A (p.Leu296=)
n.576G>A
c.752G>A
c.729G>A (p.Leu243=)
c.717G>A (p.Leu239=)
c.862G>A (n.862G>A)
c.657G>A (p.Leu219=)
c.780G>A (p.Leu260=)
c.732G>A (p.Leu244=)
c.756G>A (p.Leu252=)
c.369G>A (p.Leu123=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.128398502A>CCA369168746IMPDH1c.878T>G (p.Leu293Arg)
n.861T>G
c.986T>G (p.Leu329Arg)
c.618T>G
c.956T>G (p.Leu319Arg)
c.887T>G (p.Leu296Arg)
n.575T>G
c.751T>G
c.728T>G (p.Leu243Arg)
c.716T>G (p.Leu239Arg)
c.861T>G (n.861T>G)
c.656T>G (p.Leu219Arg)
c.779T>G (p.Leu260Arg)
c.731T>G (p.Leu244Arg)
c.755T>G (p.Leu252Arg)
c.368T>G (p.Leu123Arg)
7g.128398502A>GCA369168749IMPDH1c.878T>C (p.Leu293Pro)
n.861T>C
c.986T>C (p.Leu329Pro)
c.618T>C
c.956T>C (p.Leu319Pro)
c.887T>C (p.Leu296Pro)
n.575T>C
c.751T>C
c.728T>C (p.Leu243Pro)
c.716T>C (p.Leu239Pro)
c.861T>C (n.861T>C)
c.656T>C (p.Leu219Pro)
c.779T>C (p.Leu260Pro)
c.731T>C (p.Leu244Pro)
c.755T>C (p.Leu252Pro)
c.368T>C (p.Leu123Pro)
7g.128398502A>TCA369168750IMPDH1c.878T>A (p.Leu293Gln)
n.861T>A
c.986T>A (p.Leu329Gln)
c.618T>A
c.956T>A (p.Leu319Gln)
c.887T>A (p.Leu296Gln)
n.575T>A
c.751T>A
c.728T>A (p.Leu243Gln)
c.716T>A (p.Leu239Gln)
c.861T>A (n.861T>A)
c.656T>A (p.Leu219Gln)
c.779T>A (p.Leu260Gln)
c.731T>A (p.Leu244Gln)
c.755T>A (p.Leu252Gln)
c.368T>A (p.Leu123Gln)
7g.128398503G>ACA457528278IMPDH1c.877C>T (p.Leu293=)
n.860C>T
c.985C>T (p.Leu329=)
c.617C>T
c.955C>T (p.Leu319=)
c.886C>T (p.Leu296=)
n.574C>T
c.750C>T
c.727C>T (p.Leu243=)
c.715C>T (p.Leu239=)
c.860C>T (n.860C>T)
c.655C>T (p.Leu219=)
c.778C>T (p.Leu260=)
c.730C>T (p.Leu244=)
c.754C>T (p.Leu252=)
c.367C>T (p.Leu123=)
 ClinVar
7g.128398503G>CCA369168751IMPDH1c.877C>G (p.Leu293Val)
n.860C>G
c.985C>G (p.Leu329Val)
c.617C>G
c.955C>G (p.Leu319Val)
c.886C>G (p.Leu296Val)
n.574C>G
c.750C>G
c.727C>G (p.Leu243Val)
c.715C>G (p.Leu239Val)
c.860C>G (n.860C>G)
c.655C>G (p.Leu219Val)
c.778C>G (p.Leu260Val)
c.730C>G (p.Leu244Val)
c.754C>G (p.Leu252Val)
c.367C>G (p.Leu123Val)
7g.128398503G>TCA369168752IMPDH1c.877C>A (p.Leu293Met)
n.860C>A
c.985C>A (p.Leu329Met)
c.617C>A
c.955C>A (p.Leu319Met)
c.886C>A (p.Leu296Met)
n.574C>A
c.750C>A
c.727C>A (p.Leu243Met)
c.715C>A (p.Leu239Met)
c.860C>A (n.860C>A)
c.655C>A (p.Leu219Met)
c.778C>A (p.Leu260Met)
c.730C>A (p.Leu244Met)
c.754C>A (p.Leu252Met)
c.367C>A (p.Leu123Met)
7g.128398504C>ACA369168756IMPDH1c.876G>T (p.Gln292His)
n.859G>T
c.984G>T (p.Gln328His)
c.616G>T
c.954G>T (p.Gln318His)
c.885G>T (p.Gln295His)
n.573G>T
c.749G>T
c.726G>T (p.Gln242His)
c.714G>T (p.Gln238His)
c.859G>T (n.859G>T)
c.654G>T (p.Gln218His)
c.777G>T (p.Gln259His)
c.729G>T (p.Gln243His)
c.753G>T (p.Gln251His)
c.366G>T (p.Gln122His)
 ClinVar dbSNP
7g.128398504C=CA1742328073IMPDH1c.876G= (p.Gln292=)
n.859G=
c.984G= (p.Gln328=)
c.616G=
c.954G= (p.Gln318=)
c.885G= (p.Gln295=)
n.573G=
c.749G=
c.726G= (p.Gln242=)
c.714G= (p.Gln238=)
c.859G= (n.859G=)
c.654G= (p.Gln218=)
c.777G= (p.Gln259=)
c.729G= (p.Gln243=)
c.753G= (p.Gln251=)
c.366G= (p.Gln122=)
7g.128398504C>GCA10586358IMPDH1c.876G>C (p.Gln292His)
n.859G>C
c.984G>C (p.Gln328His)
c.616G>C
c.954G>C (p.Gln318His)
c.885G>C (p.Gln295His)
n.573G>C
c.749G>C
c.726G>C (p.Gln242His)
c.714G>C (p.Gln238His)
c.859G>C (n.859G>C)
c.654G>C (p.Gln218His)
c.777G>C (p.Gln259His)
c.729G>C (p.Gln243His)
c.753G>C (p.Gln251His)
c.366G>C (p.Gln122His)
 ClinVar dbSNP
7g.128398504C>TCA457528279IMPDH1c.876G>A (p.Gln292=)
n.859G>A
c.984G>A (p.Gln328=)
c.616G>A
c.954G>A (p.Gln318=)
c.885G>A (p.Gln295=)
n.573G>A
c.749G>A
c.726G>A (p.Gln242=)
c.714G>A (p.Gln238=)
c.859G>A (n.859G>A)
c.654G>A (p.Gln218=)
c.777G>A (p.Gln259=)
c.729G>A (p.Gln243=)
c.753G>A (p.Gln251=)
c.366G>A (p.Gln122=)
7g.128398505T>ACA369168767IMPDH1c.875A>T (p.Gln292Leu)
n.858A>T
c.983A>T (p.Gln328Leu)
c.615A>T
c.953A>T (p.Gln318Leu)
c.884A>T (p.Gln295Leu)
n.572A>T
c.748A>T
c.725A>T (p.Gln242Leu)
c.713A>T (p.Gln238Leu)
c.858A>T (n.858A>T)
c.653A>T (p.Gln218Leu)
c.776A>T (p.Gln259Leu)
c.728A>T (p.Gln243Leu)
c.752A>T (p.Gln251Leu)
c.365A>T (p.Gln122Leu)
7g.128398505T>CCA369168786IMPDH1c.875A>G (p.Gln292Arg)
n.858A>G
c.983A>G (p.Gln328Arg)
c.615A>G
c.953A>G (p.Gln318Arg)
c.884A>G (p.Gln295Arg)
n.572A>G
c.748A>G
c.725A>G (p.Gln242Arg)
c.713A>G (p.Gln238Arg)
c.858A>G (n.858A>G)
c.653A>G (p.Gln218Arg)
c.776A>G (p.Gln259Arg)
c.728A>G (p.Gln243Arg)
c.752A>G (p.Gln251Arg)
c.365A>G (p.Gln122Arg)
7g.128398505T>GCA369168789IMPDH1c.875A>C (p.Gln292Pro)
n.858A>C
c.983A>C (p.Gln328Pro)
c.615A>C
c.953A>C (p.Gln318Pro)
c.884A>C (p.Gln295Pro)
n.572A>C
c.748A>C
c.725A>C (p.Gln242Pro)
c.713A>C (p.Gln238Pro)
c.858A>C (n.858A>C)
c.653A>C (p.Gln218Pro)
c.776A>C (p.Gln259Pro)
c.728A>C (p.Gln243Pro)
c.752A>C (p.Gln251Pro)
c.365A>C (p.Gln122Pro)
7g.128398506G>ACA369168798IMPDH1c.874C>T (p.Gln292Ter)
n.857C>T
c.982C>T (p.Gln328Ter)
c.614C>T
c.952C>T (p.Gln318Ter)
c.883C>T (p.Gln295Ter)
n.571C>T
c.747C>T
c.724C>T (p.Gln242Ter)
c.712C>T (p.Gln238Ter)
c.857C>T (n.857C>T)
c.652C>T (p.Gln218Ter)
c.775C>T (p.Gln259Ter)
c.727C>T (p.Gln243Ter)
c.751C>T (p.Gln251Ter)
c.364C>T (p.Gln122Ter)
7g.128398506G>CCA369168803IMPDH1c.874C>G (p.Gln292Glu)
n.857C>G
c.982C>G (p.Gln328Glu)
c.614C>G
c.952C>G (p.Gln318Glu)
c.883C>G (p.Gln295Glu)
n.571C>G
c.747C>G
c.724C>G (p.Gln242Glu)
c.712C>G (p.Gln238Glu)
c.857C>G (n.857C>G)
c.652C>G (p.Gln218Glu)
c.775C>G (p.Gln259Glu)
c.727C>G (p.Gln243Glu)
c.751C>G (p.Gln251Glu)
c.364C>G (p.Gln122Glu)
7g.128398506G>TCA369168806IMPDH1c.874C>A (p.Gln292Lys)
n.857C>A
c.982C>A (p.Gln328Lys)
c.614C>A
c.952C>A (p.Gln318Lys)
c.883C>A (p.Gln295Lys)
n.571C>A
c.747C>A
c.724C>A (p.Gln242Lys)
c.712C>A (p.Gln238Lys)
c.857C>A (n.857C>A)
c.652C>A (p.Gln218Lys)
c.775C>A (p.Gln259Lys)
c.727C>A (p.Gln243Lys)
c.751C>A (p.Gln251Lys)
c.364C>A (p.Gln122Lys)
7g.128398507C>ACA369168812IMPDH1c.873G>T (p.Lys291Asn)
n.856G>T
c.981G>T (p.Lys327Asn)
c.613G>T
c.951G>T (p.Lys317Asn)
c.882G>T (p.Lys294Asn)
n.570G>T
c.746G>T
c.723G>T (p.Lys241Asn)
c.711G>T (p.Lys237Asn)
c.856G>T (n.856G>T)
c.651G>T (p.Lys217Asn)
c.774G>T (p.Lys258Asn)
c.726G>T (p.Lys242Asn)
c.750G>T (p.Lys250Asn)
c.363G>T (p.Lys121Asn)
7g.128398507C>GCA369168813IMPDH1c.873G>C (p.Lys291Asn)
n.856G>C
c.981G>C (p.Lys327Asn)
c.613G>C
c.951G>C (p.Lys317Asn)
c.882G>C (p.Lys294Asn)
n.570G>C
c.746G>C
c.723G>C (p.Lys241Asn)
c.711G>C (p.Lys237Asn)
c.856G>C (n.856G>C)
c.651G>C (p.Lys217Asn)
c.774G>C (p.Lys258Asn)
c.726G>C (p.Lys242Asn)
c.750G>C (p.Lys250Asn)
c.363G>C (p.Lys121Asn)
7g.128398507C>TCA457528283IMPDH1c.873G>A (p.Lys291=)
n.856G>A
c.981G>A (p.Lys327=)
c.613G>A
c.951G>A (p.Lys317=)
c.882G>A (p.Lys294=)
n.570G>A
c.746G>A
c.723G>A (p.Lys241=)
c.711G>A (p.Lys237=)
c.856G>A (n.856G>A)
c.651G>A (p.Lys217=)
c.774G>A (p.Lys258=)
c.726G>A (p.Lys242=)
c.750G>A (p.Lys250=)
c.363G>A (p.Lys121=)
 gnomAD v4
7g.128398508T>ACA369168820IMPDH1c.872A>T (p.Lys291Met)
n.855A>T
c.980A>T (p.Lys327Met)
c.612A>T
c.950A>T (p.Lys317Met)
c.881A>T (p.Lys294Met)
n.569A>T
c.745A>T
c.722A>T (p.Lys241Met)
c.710A>T (p.Lys237Met)
c.855A>T (n.855A>T)
c.650A>T (p.Lys217Met)
c.773A>T (p.Lys258Met)
c.725A>T (p.Lys242Met)
c.749A>T (p.Lys250Met)
c.362A>T (p.Lys121Met)
7g.128398508T>CCA369168823IMPDH1c.872A>G (p.Lys291Arg)
n.855A>G
c.980A>G (p.Lys327Arg)
c.612A>G
c.950A>G (p.Lys317Arg)
c.881A>G (p.Lys294Arg)
n.569A>G
c.745A>G
c.722A>G (p.Lys241Arg)
c.710A>G (p.Lys237Arg)
c.855A>G (n.855A>G)
c.650A>G (p.Lys217Arg)
c.773A>G (p.Lys258Arg)
c.725A>G (p.Lys242Arg)
c.749A>G (p.Lys250Arg)
c.362A>G (p.Lys121Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.128398508T>GCA369168827IMPDH1c.872A>C (p.Lys291Thr)
n.855A>C
c.980A>C (p.Lys327Thr)
c.612A>C
c.950A>C (p.Lys317Thr)
c.881A>C (p.Lys294Thr)
n.569A>C
c.745A>C
c.722A>C (p.Lys241Thr)
c.710A>C (p.Lys237Thr)
c.855A>C (n.855A>C)
c.650A>C (p.Lys217Thr)
c.773A>C (p.Lys258Thr)
c.725A>C (p.Lys242Thr)
c.749A>C (p.Lys250Thr)
c.362A>C (p.Lys121Thr)
7g.128398508T=CA1742328082IMPDH1c.872A= (p.Lys291=)
n.855A=
c.980A= (p.Lys327=)
c.612A=
c.950A= (p.Lys317=)
c.881A= (p.Lys294=)
n.569A=
c.745A=
c.722A= (p.Lys241=)
c.710A= (p.Lys237=)
c.855A= (n.855A=)
c.650A= (p.Lys217=)
c.773A= (p.Lys258=)
c.725A= (p.Lys242=)
c.749A= (p.Lys250=)
c.362A= (p.Lys121=)
7g.128398509T>ACA369168835IMPDH1c.871A>T (p.Lys291Ter)
n.854A>T
c.979A>T (p.Lys327Ter)
c.611A>T
c.949A>T (p.Lys317Ter)
c.880A>T (p.Lys294Ter)
n.568A>T
c.744A>T
c.721A>T (p.Lys241Ter)
c.709A>T (p.Lys237Ter)
c.854A>T (n.854A>T)
c.649A>T (p.Lys217Ter)
c.772A>T (p.Lys258Ter)
c.724A>T (p.Lys242Ter)
c.748A>T (p.Lys250Ter)
c.361A>T (p.Lys121Ter)
7g.128398509T>CCA369168833IMPDH1c.871A>G (p.Lys291Glu)
n.854A>G
c.979A>G (p.Lys327Glu)
c.611A>G
c.949A>G (p.Lys317Glu)
c.880A>G (p.Lys294Glu)
n.568A>G
c.744A>G
c.721A>G (p.Lys241Glu)
c.709A>G (p.Lys237Glu)
c.854A>G (n.854A>G)
c.649A>G (p.Lys217Glu)
c.772A>G (p.Lys258Glu)
c.724A>G (p.Lys242Glu)
c.748A>G (p.Lys250Glu)
c.361A>G (p.Lys121Glu)
7g.128398509T>GCA369168834IMPDH1c.871A>C (p.Lys291Gln)
n.854A>C
c.979A>C (p.Lys327Gln)
c.611A>C
c.949A>C (p.Lys317Gln)
c.880A>C (p.Lys294Gln)
n.568A>C
c.744A>C
c.721A>C (p.Lys241Gln)
c.709A>C (p.Lys237Gln)
c.854A>C (n.854A>C)
c.649A>C (p.Lys217Gln)
c.772A>C (p.Lys258Gln)
c.724A>C (p.Lys242Gln)
c.748A>C (p.Lys250Gln)
c.361A>C (p.Lys121Gln)
7g.128398510C>ACA369168836IMPDH1c.870G>T (p.Gln290His)
n.853G>T
c.978G>T (p.Gln326His)
c.610G>T
c.948G>T (p.Gln316His)
c.879G>T (p.Gln293His)
n.567G>T
c.743G>T
c.720G>T (p.Gln240His)
c.708G>T (p.Gln236His)
c.853G>T (n.853G>T)
c.648G>T (p.Gln216His)
c.771G>T (p.Gln257His)
c.723G>T (p.Gln241His)
c.747G>T (p.Gln249His)
c.360G>T (p.Gln120His)
7g.128398510C=CA1742328095IMPDH1c.870G= (p.Gln290=)
n.853G=
c.978G= (p.Gln326=)
c.610G=
c.948G= (p.Gln316=)
c.879G= (p.Gln293=)
n.567G=
c.743G=
c.720G= (p.Gln240=)
c.708G= (p.Gln236=)
c.853G= (n.853G=)
c.648G= (p.Gln216=)
c.771G= (p.Gln257=)
c.723G= (p.Gln241=)
c.747G= (p.Gln249=)
c.360G= (p.Gln120=)
7g.128398510C>GCA369168838IMPDH1c.870G>C (p.Gln290His)
n.853G>C
c.978G>C (p.Gln326His)
c.610G>C
c.948G>C (p.Gln316His)
c.879G>C (p.Gln293His)
n.567G>C
c.743G>C
c.720G>C (p.Gln240His)
c.708G>C (p.Gln236His)
c.853G>C (n.853G>C)
c.648G>C (p.Gln216His)
c.771G>C (p.Gln257His)
c.723G>C (p.Gln241His)
c.747G>C (p.Gln249His)
c.360G>C (p.Gln120His)
 ClinVar dbSNP COSMIC COSMIC
7g.128398510C>TCA457528285IMPDH1c.870G>A (p.Gln290=)
n.853G>A
c.978G>A (p.Gln326=)
c.610G>A
c.948G>A (p.Gln316=)
c.879G>A (p.Gln293=)
n.567G>A
c.743G>A
c.720G>A (p.Gln240=)
c.708G>A (p.Gln236=)
c.853G>A (n.853G>A)
c.648G>A (p.Gln216=)
c.771G>A (p.Gln257=)
c.723G>A (p.Gln241=)
c.747G>A (p.Gln249=)
c.360G>A (p.Gln120=)
7g.128398511T>ACA369168848IMPDH1c.869A>T (p.Gln290Leu)
n.852A>T
c.977A>T (p.Gln326Leu)
c.609A>T
c.947A>T (p.Gln316Leu)
c.878A>T (p.Gln293Leu)
n.566A>T
c.742A>T
c.719A>T (p.Gln240Leu)
c.707A>T (p.Gln236Leu)
c.852A>T (n.852A>T)
c.647A>T (p.Gln216Leu)
c.770A>T (p.Gln257Leu)
c.722A>T (p.Gln241Leu)
c.746A>T (p.Gln249Leu)
c.359A>T (p.Gln120Leu)
7g.128398511T>CCA369168851IMPDH1c.869A>G (p.Gln290Arg)
n.852A>G
c.977A>G (p.Gln326Arg)
c.609A>G
c.947A>G (p.Gln316Arg)
c.878A>G (p.Gln293Arg)
n.566A>G
c.742A>G
c.719A>G (p.Gln240Arg)
c.707A>G (p.Gln236Arg)
c.852A>G (n.852A>G)
c.647A>G (p.Gln216Arg)
c.770A>G (p.Gln257Arg)
c.722A>G (p.Gln241Arg)
c.746A>G (p.Gln249Arg)
c.359A>G (p.Gln120Arg)
7g.128398511T>GCA369168854IMPDH1c.869A>C (p.Gln290Pro)
n.852A>C
c.977A>C (p.Gln326Pro)
c.609A>C
c.947A>C (p.Gln316Pro)
c.878A>C (p.Gln293Pro)
n.566A>C
c.742A>C
c.719A>C (p.Gln240Pro)
c.707A>C (p.Gln236Pro)
c.852A>C (n.852A>C)
c.647A>C (p.Gln216Pro)
c.770A>C (p.Gln257Pro)
c.722A>C (p.Gln241Pro)
c.746A>C (p.Gln249Pro)
c.359A>C (p.Gln120Pro)
7g.128398512G>ACA369168858IMPDH1c.868C>T (p.Gln290Ter)
n.851C>T
c.976C>T (p.Gln326Ter)
c.608C>T
c.946C>T (p.Gln316Ter)
c.877C>T (p.Gln293Ter)
n.565C>T
c.741C>T
c.718C>T (p.Gln240Ter)
c.706C>T (p.Gln236Ter)
c.851C>T (n.851C>T)
c.646C>T (p.Gln216Ter)
c.769C>T (p.Gln257Ter)
c.721C>T (p.Gln241Ter)
c.745C>T (p.Gln249Ter)
c.358C>T (p.Gln120Ter)
7g.128398512G>CCA369168862IMPDH1c.868C>G (p.Gln290Glu)
n.851C>G
c.976C>G (p.Gln326Glu)
c.608C>G
c.946C>G (p.Gln316Glu)
c.877C>G (p.Gln293Glu)
n.565C>G
c.741C>G
c.718C>G (p.Gln240Glu)
c.706C>G (p.Gln236Glu)
c.851C>G (n.851C>G)
c.646C>G (p.Gln216Glu)
c.769C>G (p.Gln257Glu)
c.721C>G (p.Gln241Glu)
c.745C>G (p.Gln249Glu)
c.358C>G (p.Gln120Glu)
7g.128398512G>TCA369168868IMPDH1c.868C>A (p.Gln290Lys)
n.851C>A
c.976C>A (p.Gln326Lys)
c.608C>A
c.946C>A (p.Gln316Lys)
c.877C>A (p.Gln293Lys)
n.565C>A
c.741C>A
c.718C>A (p.Gln240Lys)
c.706C>A (p.Gln236Lys)
c.851C>A (n.851C>A)
c.646C>A (p.Gln216Lys)
c.769C>A (p.Gln257Lys)
c.721C>A (p.Gln241Lys)
c.745C>A (p.Gln249Lys)
c.358C>A (p.Gln120Lys)
 gnomAD v4
7g.128398513G>ACA457528288IMPDH1c.867C>T (p.Ser289=)
n.850C>T
c.975C>T (p.Ser325=)
c.607C>T
c.945C>T (p.Ser315=)
c.876C>T (p.Ser292=)
n.564C>T
c.740C>T
c.717C>T (p.Ser239=)
c.705C>T (p.Ser235=)
c.850C>T (n.850C>T)
c.645C>T (p.Ser215=)
c.768C>T (p.Ser256=)
c.720C>T (p.Ser240=)
c.744C>T (p.Ser248=)
c.357C>T (p.Ser119=)
 gnomAD v4
7g.128398513G>CCA4470982IMPDH1c.867C>G (p.Ser289=)
n.850C>G
c.975C>G (p.Ser325=)
c.607C>G
c.945C>G (p.Ser315=)
c.876C>G (p.Ser292=)
n.564C>G
c.740C>G
c.717C>G (p.Ser239=)
c.705C>G (p.Ser235=)
c.850C>G (n.850C>G)
c.645C>G (p.Ser215=)
c.768C>G (p.Ser256=)
c.720C>G (p.Ser240=)
c.744C>G (p.Ser248=)
c.357C>G (p.Ser119=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128398513G=CA1742328099IMPDH1c.867C= (p.Ser289=)
n.850C=
c.975C= (p.Ser325=)
c.607C=
c.945C= (p.Ser315=)
c.876C= (p.Ser292=)
n.564C=
c.740C=
c.717C= (p.Ser239=)
c.705C= (p.Ser235=)
c.850C= (n.850C=)
c.645C= (p.Ser215=)
c.768C= (p.Ser256=)
c.720C= (p.Ser240=)
c.744C= (p.Ser248=)
c.357C= (p.Ser119=)
7g.128398513G>TCA457528290IMPDH1c.867C>A (p.Ser289=)
n.850C>A
c.975C>A (p.Ser325=)
c.607C>A
c.945C>A (p.Ser315=)
c.876C>A (p.Ser292=)
n.564C>A
c.740C>A
c.717C>A (p.Ser239=)
c.705C>A (p.Ser235=)
c.850C>A (n.850C>A)
c.645C>A (p.Ser215=)
c.768C>A (p.Ser256=)
c.720C>A (p.Ser240=)
c.744C>A (p.Ser248=)
c.357C>A (p.Ser119=)
7g.128398514G>ACA369168879IMPDH1c.866C>T (p.Ser289Phe)
n.849C>T
c.974C>T (p.Ser325Phe)
c.606C>T
c.944C>T (p.Ser315Phe)
c.875C>T (p.Ser292Phe)
n.563C>T
c.739C>T
c.716C>T (p.Ser239Phe)
c.704C>T (p.Ser235Phe)
c.849C>T (n.849C>T)
c.644C>T (p.Ser215Phe)
c.767C>T (p.Ser256Phe)
c.719C>T (p.Ser240Phe)
c.743C>T (p.Ser248Phe)
c.356C>T (p.Ser119Phe)
 ClinVar
7g.128398514G>CCA369168883IMPDH1c.866C>G (p.Ser289Cys)
n.849C>G
c.974C>G (p.Ser325Cys)
c.606C>G
c.944C>G (p.Ser315Cys)
c.875C>G (p.Ser292Cys)
n.563C>G
c.739C>G
c.716C>G (p.Ser239Cys)
c.704C>G (p.Ser235Cys)
c.849C>G (n.849C>G)
c.644C>G (p.Ser215Cys)
c.767C>G (p.Ser256Cys)
c.719C>G (p.Ser240Cys)
c.743C>G (p.Ser248Cys)
c.356C>G (p.Ser119Cys)
7g.128398514G=CA1742328104IMPDH1c.866C= (p.Ser289=)
n.849C=
c.974C= (p.Ser325=)
c.606C=
c.944C= (p.Ser315=)
c.875C= (p.Ser292=)
n.563C=
c.739C=
c.716C= (p.Ser239=)
c.704C= (p.Ser235=)
c.849C= (n.849C=)
c.644C= (p.Ser215=)
c.767C= (p.Ser256=)
c.719C= (p.Ser240=)
c.743C= (p.Ser248=)
c.356C= (p.Ser119=)
7g.128398514G>TCA369168892IMPDH1c.866C>A (p.Ser289Tyr)
n.849C>A
c.974C>A (p.Ser325Tyr)
c.606C>A
c.944C>A (p.Ser315Tyr)
c.875C>A (p.Ser292Tyr)
n.563C>A
c.739C>A
c.716C>A (p.Ser239Tyr)
c.704C>A (p.Ser235Tyr)
c.849C>A (n.849C>A)
c.644C>A (p.Ser215Tyr)
c.767C>A (p.Ser256Tyr)
c.719C>A (p.Ser240Tyr)
c.743C>A (p.Ser248Tyr)
c.356C>A (p.Ser119Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.128398515A>CCA369168913IMPDH1c.865T>G (p.Ser289Ala)
n.848T>G
c.973T>G (p.Ser325Ala)
c.605T>G
c.943T>G (p.Ser315Ala)
c.874T>G (p.Ser292Ala)
n.562T>G
c.738T>G
c.715T>G (p.Ser239Ala)
c.703T>G (p.Ser235Ala)
c.848T>G (n.848T>G)
c.643T>G (p.Ser215Ala)
c.766T>G (p.Ser256Ala)
c.718T>G (p.Ser240Ala)
c.742T>G (p.Ser248Ala)
c.355T>G (p.Ser119Ala)
 gnomAD v4
7g.128398515A>GCA369168903IMPDH1c.865T>C (p.Ser289Pro)
n.848T>C
c.973T>C (p.Ser325Pro)
c.605T>C
c.943T>C (p.Ser315Pro)
c.874T>C (p.Ser292Pro)
n.562T>C
c.738T>C
c.715T>C (p.Ser239Pro)
c.703T>C (p.Ser235Pro)
c.848T>C (n.848T>C)
c.643T>C (p.Ser215Pro)
c.766T>C (p.Ser256Pro)
c.718T>C (p.Ser240Pro)
c.742T>C (p.Ser248Pro)
c.355T>C (p.Ser119Pro)
7g.128398515A>TCA369168908IMPDH1c.865T>A (p.Ser289Thr)
n.848T>A
c.973T>A (p.Ser325Thr)
c.605T>A
c.943T>A (p.Ser315Thr)
c.874T>A (p.Ser292Thr)
n.562T>A
c.738T>A
c.715T>A (p.Ser239Thr)
c.703T>A (p.Ser235Thr)
c.848T>A (n.848T>A)
c.643T>A (p.Ser215Thr)
c.766T>A (p.Ser256Thr)
c.718T>A (p.Ser240Thr)
c.742T>A (p.Ser248Thr)
c.355T>A (p.Ser119Thr)
7g.128398516A>CCA369168918IMPDH1c.864T>G (p.Asp288Glu)
n.847T>G
c.972T>G (p.Asp324Glu)
c.604T>G
c.942T>G (p.Asp314Glu)
c.873T>G (p.Asp291Glu)
n.561T>G
c.737T>G
c.714T>G (p.Asp238Glu)
c.702T>G (p.Asp234Glu)
c.847T>G (n.847T>G)
c.642T>G (p.Asp214Glu)
c.765T>G (p.Asp255Glu)
c.717T>G (p.Asp239Glu)
c.741T>G (p.Asp247Glu)
c.354T>G (p.Asp118Glu)
7g.128398516A>GCA457528292IMPDH1c.864T>C (p.Asp288=)
n.847T>C
c.972T>C (p.Asp324=)
c.604T>C
c.942T>C (p.Asp314=)
c.873T>C (p.Asp291=)
n.561T>C
c.737T>C
c.714T>C (p.Asp238=)
c.702T>C (p.Asp234=)
c.847T>C (n.847T>C)
c.642T>C (p.Asp214=)
c.765T>C (p.Asp255=)
c.717T>C (p.Asp239=)
c.741T>C (p.Asp247=)
c.354T>C (p.Asp118=)
7g.128398516A>TCA369168941IMPDH1c.864T>A (p.Asp288Glu)
n.847T>A
c.972T>A (p.Asp324Glu)
c.604T>A
c.942T>A (p.Asp314Glu)
c.873T>A (p.Asp291Glu)
n.561T>A
c.737T>A
c.714T>A (p.Asp238Glu)
c.702T>A (p.Asp234Glu)
c.847T>A (n.847T>A)
c.642T>A (p.Asp214Glu)
c.765T>A (p.Asp255Glu)
c.717T>A (p.Asp239Glu)
c.741T>A (p.Asp247Glu)
c.354T>A (p.Asp118Glu)
7g.128398517T>ACA369168946IMPDH1c.863A>T (p.Asp288Val)
n.846A>T
c.971A>T (p.Asp324Val)
c.603A>T
c.941A>T (p.Asp314Val)
c.872A>T (p.Asp291Val)
n.560A>T
c.736A>T
c.713A>T (p.Asp238Val)
c.701A>T (p.Asp234Val)
c.846A>T (n.846A>T)
c.641A>T (p.Asp214Val)
c.764A>T (p.Asp255Val)
c.716A>T (p.Asp239Val)
c.740A>T (p.Asp247Val)
c.353A>T (p.Asp118Val)
7g.128398517T>CCA369168963IMPDH1c.863A>G (p.Asp288Gly)
n.846A>G
c.971A>G (p.Asp324Gly)
c.603A>G
c.941A>G (p.Asp314Gly)
c.872A>G (p.Asp291Gly)
n.560A>G
c.736A>G
c.713A>G (p.Asp238Gly)
c.701A>G (p.Asp234Gly)
c.846A>G (n.846A>G)
c.641A>G (p.Asp214Gly)
c.764A>G (p.Asp255Gly)
c.716A>G (p.Asp239Gly)
c.740A>G (p.Asp247Gly)
c.353A>G (p.Asp118Gly)
7g.128398517T>GCA369168957IMPDH1c.863A>C (p.Asp288Ala)
n.846A>C
c.971A>C (p.Asp324Ala)
c.603A>C
c.941A>C (p.Asp314Ala)
c.872A>C (p.Asp291Ala)
n.560A>C
c.736A>C
c.713A>C (p.Asp238Ala)
c.701A>C (p.Asp234Ala)
c.846A>C (n.846A>C)
c.641A>C (p.Asp214Ala)
c.764A>C (p.Asp255Ala)
c.716A>C (p.Asp239Ala)
c.740A>C (p.Asp247Ala)
c.353A>C (p.Asp118Ala)
7g.128398518C>ACA369168970IMPDH1c.862G>T (p.Asp288Tyr)
n.845G>T
c.970G>T (p.Asp324Tyr)
c.602G>T
c.940G>T (p.Asp314Tyr)
c.871G>T (p.Asp291Tyr)
n.559G>T
c.735G>T
c.712G>T (p.Asp238Tyr)
c.700G>T (p.Asp234Tyr)
c.845G>T (n.845G>T)
c.640G>T (p.Asp214Tyr)
c.763G>T (p.Asp255Tyr)
c.715G>T (p.Asp239Tyr)
c.739G>T (p.Asp247Tyr)
c.352G>T (p.Asp118Tyr)
7g.128398518C>GCA369168977IMPDH1c.862G>C (p.Asp288His)
n.845G>C
c.970G>C (p.Asp324His)
c.602G>C
c.940G>C (p.Asp314His)
c.871G>C (p.Asp291His)
n.559G>C
c.735G>C
c.712G>C (p.Asp238His)
c.700G>C (p.Asp234His)
c.845G>C (n.845G>C)
c.640G>C (p.Asp214His)
c.763G>C (p.Asp255His)
c.715G>C (p.Asp239His)
c.739G>C (p.Asp247His)
c.352G>C (p.Asp118His)
7g.128398518C>TCA369168975IMPDH1c.862G>A (p.Asp288Asn)
n.845G>A
c.970G>A (p.Asp324Asn)
c.602G>A
c.940G>A (p.Asp314Asn)
c.871G>A (p.Asp291Asn)
n.559G>A
c.735G>A
c.712G>A (p.Asp238Asn)
c.700G>A (p.Asp234Asn)
c.845G>A (n.845G>A)
c.640G>A (p.Asp214Asn)
c.763G>A (p.Asp255Asn)
c.715G>A (p.Asp239Asn)
c.739G>A (p.Asp247Asn)
c.352G>A (p.Asp118Asn)
7g.128398519C>ACA369168984IMPDH1c.861G>T (p.Lys287Asn)
n.844G>T
c.969G>T (p.Lys323Asn)
c.601G>T
c.939G>T (p.Lys313Asn)
c.870G>T (p.Lys290Asn)
n.558G>T
c.734G>T
c.711G>T (p.Lys237Asn)
c.699G>T (p.Lys233Asn)
c.844G>T (n.844G>T)
c.639G>T (p.Lys213Asn)
c.762G>T (p.Lys254Asn)
c.714G>T (p.Lys238Asn)
c.738G>T (p.Lys246Asn)
c.351G>T (p.Lys117Asn)
 ClinVar dbSNP
7g.128398519C=CA1742328112IMPDH1c.861G= (p.Lys287=)
n.844G=
c.969G= (p.Lys323=)
c.601G=
c.939G= (p.Lys313=)
c.870G= (p.Lys290=)
n.558G=
c.734G=
c.711G= (p.Lys237=)
c.699G= (p.Lys233=)
c.844G= (n.844G=)
c.639G= (p.Lys213=)
c.762G= (p.Lys254=)
c.714G= (p.Lys238=)
c.738G= (p.Lys246=)
c.351G= (p.Lys117=)
7g.128398519C>GCA369168990IMPDH1c.861G>C (p.Lys287Asn)
n.844G>C
c.969G>C (p.Lys323Asn)
c.601G>C
c.939G>C (p.Lys313Asn)
c.870G>C (p.Lys290Asn)
n.558G>C
c.734G>C
c.711G>C (p.Lys237Asn)
c.699G>C (p.Lys233Asn)
c.844G>C (n.844G>C)
c.639G>C (p.Lys213Asn)
c.762G>C (p.Lys254Asn)
c.714G>C (p.Lys238Asn)
c.738G>C (p.Lys246Asn)
c.351G>C (p.Lys117Asn)
7g.128398519C>TCA4470983IMPDH1c.861G>A (p.Lys287=)
n.844G>A
c.969G>A (p.Lys323=)
c.601G>A
c.939G>A (p.Lys313=)
c.870G>A (p.Lys290=)
n.558G>A
c.734G>A
c.711G>A (p.Lys237=)
c.699G>A (p.Lys233=)
c.844G>A (n.844G>A)
c.639G>A (p.Lys213=)
c.762G>A (p.Lys254=)
c.714G>A (p.Lys238=)
c.738G>A (p.Lys246=)
c.351G>A (p.Lys117=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398520T>ACA369169018IMPDH1c.860A>T (p.Lys287Met)
n.843A>T
c.968A>T (p.Lys323Met)
c.600A>T
c.938A>T (p.Lys313Met)
c.869A>T (p.Lys290Met)
n.557A>T
c.733A>T
c.710A>T (p.Lys237Met)
c.698A>T (p.Lys233Met)
c.843A>T (n.843A>T)
c.638A>T (p.Lys213Met)
c.761A>T (p.Lys254Met)
c.713A>T (p.Lys238Met)
c.737A>T (p.Lys246Met)
c.350A>T (p.Lys117Met)
 COSMIC COSMIC
7g.128398520T>CCA369169029IMPDH1c.860A>G (p.Lys287Arg)
n.843A>G
c.968A>G (p.Lys323Arg)
c.600A>G
c.938A>G (p.Lys313Arg)
c.869A>G (p.Lys290Arg)
n.557A>G
c.733A>G
c.710A>G (p.Lys237Arg)
c.698A>G (p.Lys233Arg)
c.843A>G (n.843A>G)
c.638A>G (p.Lys213Arg)
c.761A>G (p.Lys254Arg)
c.713A>G (p.Lys238Arg)
c.737A>G (p.Lys246Arg)
c.350A>G (p.Lys117Arg)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
7g.128398520T>GCA369169020IMPDH1c.860A>C (p.Lys287Thr)
n.843A>C
c.968A>C (p.Lys323Thr)
c.600A>C
c.938A>C (p.Lys313Thr)
c.869A>C (p.Lys290Thr)
n.557A>C
c.733A>C
c.710A>C (p.Lys237Thr)
c.698A>C (p.Lys233Thr)
c.843A>C (n.843A>C)
c.638A>C (p.Lys213Thr)
c.761A>C (p.Lys254Thr)
c.713A>C (p.Lys238Thr)
c.737A>C (p.Lys246Thr)
c.350A>C (p.Lys117Thr)
 ClinVar dbSNP
7g.128398520T=CA1742328119IMPDH1c.860A= (p.Lys287=)
n.843A=
c.968A= (p.Lys323=)
c.600A=
c.938A= (p.Lys313=)
c.869A= (p.Lys290=)
n.557A=
c.733A=
c.710A= (p.Lys237=)
c.698A= (p.Lys233=)
c.843A= (n.843A=)
c.638A= (p.Lys213=)
c.761A= (p.Lys254=)
c.713A= (p.Lys238=)
c.737A= (p.Lys246=)
c.350A= (p.Lys117=)
7g.128398521T>ACA369169040IMPDH1c.859A>T (p.Lys287Ter)
n.842A>T
c.967A>T (p.Lys323Ter)
c.599A>T
c.937A>T (p.Lys313Ter)
c.868A>T (p.Lys290Ter)
n.556A>T
c.732A>T
c.709A>T (p.Lys237Ter)
c.697A>T (p.Lys233Ter)
c.842A>T (n.842A>T)
c.637A>T (p.Lys213Ter)
c.760A>T (p.Lys254Ter)
c.712A>T (p.Lys238Ter)
c.736A>T (p.Lys246Ter)
c.349A>T (p.Lys117Ter)
7g.128398521T>CCA369169047IMPDH1c.859A>G (p.Lys287Glu)
n.842A>G
c.967A>G (p.Lys323Glu)
c.599A>G
c.937A>G (p.Lys313Glu)
c.868A>G (p.Lys290Glu)
n.556A>G
c.732A>G
c.709A>G (p.Lys237Glu)
c.697A>G (p.Lys233Glu)
c.842A>G (n.842A>G)
c.637A>G (p.Lys213Glu)
c.760A>G (p.Lys254Glu)
c.712A>G (p.Lys238Glu)
c.736A>G (p.Lys246Glu)
c.349A>G (p.Lys117Glu)
 ClinVar dbSNP
7g.128398521T>GCA369169043IMPDH1c.859A>C (p.Lys287Gln)
n.842A>C
c.967A>C (p.Lys323Gln)
c.599A>C
c.937A>C (p.Lys313Gln)
c.868A>C (p.Lys290Gln)
n.556A>C
c.732A>C
c.709A>C (p.Lys237Gln)
c.697A>C (p.Lys233Gln)
c.842A>C (n.842A>C)
c.637A>C (p.Lys213Gln)
c.760A>C (p.Lys254Gln)
c.712A>C (p.Lys238Gln)
c.736A>C (p.Lys246Gln)
c.349A>C (p.Lys117Gln)
7g.128398521T=CA1742328126IMPDH1c.859A= (p.Lys287=)
n.842A=
c.967A= (p.Lys323=)
c.599A=
c.937A= (p.Lys313=)
c.868A= (p.Lys290=)
n.556A=
c.732A=
c.709A= (p.Lys237=)
c.697A= (p.Lys233=)
c.842A= (n.842A=)
c.637A= (p.Lys213=)
c.760A= (p.Lys254=)
c.712A= (p.Lys238=)
c.736A= (p.Lys246=)
c.349A= (p.Lys117=)
7g.128398522G>ACA457528299IMPDH1c.858C>T (p.Ser286=)
n.841C>T
c.966C>T (p.Ser322=)
c.598C>T
c.936C>T (p.Ser312=)
c.867C>T (p.Ser289=)
n.555C>T
c.731C>T
c.708C>T (p.Ser236=)
c.696C>T (p.Ser232=)
c.841C>T (n.841C>T)
c.636C>T (p.Ser212=)
c.759C>T (p.Ser253=)
c.711C>T (p.Ser237=)
c.735C>T (p.Ser245=)
c.348C>T (p.Ser116=)
7g.128398522G>CCA457528300IMPDH1c.858C>G (p.Ser286=)
n.841C>G
c.966C>G (p.Ser322=)
c.598C>G
c.936C>G (p.Ser312=)
c.867C>G (p.Ser289=)
n.555C>G
c.731C>G
c.708C>G (p.Ser236=)
c.696C>G (p.Ser232=)
c.841C>G (n.841C>G)
c.636C>G (p.Ser212=)
c.759C>G (p.Ser253=)
c.711C>G (p.Ser237=)
c.735C>G (p.Ser245=)
c.348C>G (p.Ser116=)
7g.128398522G>TCA457528301IMPDH1c.858C>A (p.Ser286=)
n.841C>A
c.966C>A (p.Ser322=)
c.598C>A
c.936C>A (p.Ser312=)
c.867C>A (p.Ser289=)
n.555C>A
c.731C>A
c.708C>A (p.Ser236=)
c.696C>A (p.Ser232=)
c.841C>A (n.841C>A)
c.636C>A (p.Ser212=)
c.759C>A (p.Ser253=)
c.711C>A (p.Ser237=)
c.735C>A (p.Ser245=)
c.348C>A (p.Ser116=)
7g.128398523G>ACA369169051IMPDH1c.857C>T (p.Ser286Phe)
n.840C>T
c.965C>T (p.Ser322Phe)
c.597C>T
c.935C>T (p.Ser312Phe)
c.866C>T (p.Ser289Phe)
n.554C>T
c.730C>T
c.707C>T (p.Ser236Phe)
c.695C>T (p.Ser232Phe)
c.840C>T (n.840C>T)
c.635C>T (p.Ser212Phe)
c.758C>T (p.Ser253Phe)
c.710C>T (p.Ser237Phe)
c.734C>T (p.Ser245Phe)
c.347C>T (p.Ser116Phe)
7g.128398523G>CCA369169053IMPDH1c.857C>G (p.Ser286Cys)
n.840C>G
c.965C>G (p.Ser322Cys)
c.597C>G
c.935C>G (p.Ser312Cys)
c.866C>G (p.Ser289Cys)
n.554C>G
c.730C>G
c.707C>G (p.Ser236Cys)
c.695C>G (p.Ser232Cys)
c.840C>G (n.840C>G)
c.635C>G (p.Ser212Cys)
c.758C>G (p.Ser253Cys)
c.710C>G (p.Ser237Cys)
c.734C>G (p.Ser245Cys)
c.347C>G (p.Ser116Cys)
7g.128398523G>TCA369169052IMPDH1c.857C>A (p.Ser286Tyr)
n.840C>A
c.965C>A (p.Ser322Tyr)
c.597C>A
c.935C>A (p.Ser312Tyr)
c.866C>A (p.Ser289Tyr)
n.554C>A
c.730C>A
c.707C>A (p.Ser236Tyr)
c.695C>A (p.Ser232Tyr)
c.840C>A (n.840C>A)
c.635C>A (p.Ser212Tyr)
c.758C>A (p.Ser253Tyr)
c.710C>A (p.Ser237Tyr)
c.734C>A (p.Ser245Tyr)
c.347C>A (p.Ser116Tyr)
 gnomAD v4
7g.128398524A>CCA369169057IMPDH1c.856T>G (p.Ser286Ala)
n.839T>G
c.964T>G (p.Ser322Ala)
c.596T>G
c.934T>G (p.Ser312Ala)
c.865T>G (p.Ser289Ala)
n.553T>G
c.729T>G
c.706T>G (p.Ser236Ala)
c.694T>G (p.Ser232Ala)
c.839T>G (n.839T>G)
c.634T>G (p.Ser212Ala)
c.757T>G (p.Ser253Ala)
c.709T>G (p.Ser237Ala)
c.733T>G (p.Ser245Ala)
c.346T>G (p.Ser116Ala)
7g.128398524A>GCA369169066IMPDH1c.856T>C (p.Ser286Pro)
n.839T>C
c.964T>C (p.Ser322Pro)
c.596T>C
c.934T>C (p.Ser312Pro)
c.865T>C (p.Ser289Pro)
n.553T>C
c.729T>C
c.706T>C (p.Ser236Pro)
c.694T>C (p.Ser232Pro)
c.839T>C (n.839T>C)
c.634T>C (p.Ser212Pro)
c.757T>C (p.Ser253Pro)
c.709T>C (p.Ser237Pro)
c.733T>C (p.Ser245Pro)
c.346T>C (p.Ser116Pro)
 gnomAD v4
7g.128398524A>TCA369169070IMPDH1c.856T>A (p.Ser286Thr)
n.839T>A
c.964T>A (p.Ser322Thr)
c.596T>A
c.934T>A (p.Ser312Thr)
c.865T>A (p.Ser289Thr)
n.553T>A
c.729T>A
c.706T>A (p.Ser236Thr)
c.694T>A (p.Ser232Thr)
c.839T>A (n.839T>A)
c.634T>A (p.Ser212Thr)
c.757T>A (p.Ser253Thr)
c.709T>A (p.Ser237Thr)
c.733T>A (p.Ser245Thr)
c.346T>A (p.Ser116Thr)
7g.128398525G>ACA457528305IMPDH1c.855C>T (p.Ala285=)
n.838C>T
c.963C>T (p.Ala321=)
c.595C>T
c.933C>T (p.Ala311=)
c.864C>T (p.Ala288=)
n.552C>T
c.728C>T
c.705C>T (p.Ala235=)
c.693C>T (p.Ala231=)
c.838C>T (n.838C>T)
c.633C>T (p.Ala211=)
c.756C>T (p.Ala252=)
c.708C>T (p.Ala236=)
c.732C>T (p.Ala244=)
c.345C>T (p.Ala115=)
 dbSNP gnomAD v2 gnomAD v4
7g.128398525G>CCA457528306IMPDH1c.855C>G (p.Ala285=)
n.838C>G
c.963C>G (p.Ala321=)
c.595C>G
c.933C>G (p.Ala311=)
c.864C>G (p.Ala288=)
n.552C>G
c.728C>G
c.705C>G (p.Ala235=)
c.693C>G (p.Ala231=)
c.838C>G (n.838C>G)
c.633C>G (p.Ala211=)
c.756C>G (p.Ala252=)
c.708C>G (p.Ala236=)
c.732C>G (p.Ala244=)
c.345C>G (p.Ala115=)
7g.128398525G=CA1742328131IMPDH1c.855C= (p.Ala285=)
n.838C=
c.963C= (p.Ala321=)
c.595C=
c.933C= (p.Ala311=)
c.864C= (p.Ala288=)
n.552C=
c.728C=
c.705C= (p.Ala235=)
c.693C= (p.Ala231=)
c.838C= (n.838C=)
c.633C= (p.Ala211=)
c.756C= (p.Ala252=)
c.708C= (p.Ala236=)
c.732C= (p.Ala244=)
c.345C= (p.Ala115=)
7g.128398525G>TCA457528307IMPDH1c.855C>A (p.Ala285=)
n.838C>A
c.963C>A (p.Ala321=)
c.595C>A
c.933C>A (p.Ala311=)
c.864C>A (p.Ala288=)
n.552C>A
c.728C>A
c.705C>A (p.Ala235=)
c.693C>A (p.Ala231=)
c.838C>A (n.838C>A)
c.633C>A (p.Ala211=)
c.756C>A (p.Ala252=)
c.708C>A (p.Ala236=)
c.732C>A (p.Ala244=)
c.345C>A (p.Ala115=)
7g.128398526G>ACA369169078IMPDH1c.854C>T (p.Ala285Val)
n.837C>T
c.962C>T (p.Ala321Val)
c.594C>T
c.932C>T (p.Ala311Val)
c.863C>T (p.Ala288Val)
n.551C>T
c.727C>T
c.704C>T (p.Ala235Val)
c.692C>T (p.Ala231Val)
c.837C>T (n.837C>T)
c.632C>T (p.Ala211Val)
c.755C>T (p.Ala252Val)
c.707C>T (p.Ala236Val)
c.731C>T (p.Ala244Val)
c.344C>T (p.Ala115Val)
 ClinVar dbSNP
7g.128398526G>CCA369169082IMPDH1c.854C>G (p.Ala285Gly)
n.837C>G
c.962C>G (p.Ala321Gly)
c.594C>G
c.932C>G (p.Ala311Gly)
c.863C>G (p.Ala288Gly)
n.551C>G
c.727C>G
c.704C>G (p.Ala235Gly)
c.692C>G (p.Ala231Gly)
c.837C>G (n.837C>G)
c.632C>G (p.Ala211Gly)
c.755C>G (p.Ala252Gly)
c.707C>G (p.Ala236Gly)
c.731C>G (p.Ala244Gly)
c.344C>G (p.Ala115Gly)
7g.128398526G=CA1742328143IMPDH1c.854C= (p.Ala285=)
n.837C=
c.962C= (p.Ala321=)
c.594C=
c.932C= (p.Ala311=)
c.863C= (p.Ala288=)
n.551C=
c.727C=
c.704C= (p.Ala235=)
c.692C= (p.Ala231=)
c.837C= (n.837C=)
c.632C= (p.Ala211=)
c.755C= (p.Ala252=)
c.707C= (p.Ala236=)
c.731C= (p.Ala244=)
c.344C= (p.Ala115=)
7g.128398526G>TCA369169093IMPDH1c.854C>A (p.Ala285Asp)
n.837C>A
c.962C>A (p.Ala321Asp)
c.594C>A
c.932C>A (p.Ala311Asp)
c.863C>A (p.Ala288Asp)
n.551C>A
c.727C>A
c.704C>A (p.Ala235Asp)
c.692C>A (p.Ala231Asp)
c.837C>A (n.837C>A)
c.632C>A (p.Ala211Asp)
c.755C>A (p.Ala252Asp)
c.707C>A (p.Ala236Asp)
c.731C>A (p.Ala244Asp)
c.344C>A (p.Ala115Asp)
7g.128398527C>ACA369169102IMPDH1c.853G>T (p.Ala285Ser)
n.836G>T
c.961G>T (p.Ala321Ser)
c.593G>T
c.931G>T (p.Ala311Ser)
c.862G>T (p.Ala288Ser)
n.550G>T
c.726G>T
c.703G>T (p.Ala235Ser)
c.691G>T (p.Ala231Ser)
c.836G>T (n.836G>T)
c.631G>T (p.Ala211Ser)
c.754G>T (p.Ala252Ser)
c.706G>T (p.Ala236Ser)
c.730G>T (p.Ala244Ser)
c.343G>T (p.Ala115Ser)
7g.128398527C=CA1742328150IMPDH1c.853G= (p.Ala285=)
n.836G=
c.961G= (p.Ala321=)
c.593G=
c.931G= (p.Ala311=)
c.862G= (p.Ala288=)
n.550G=
c.726G=
c.703G= (p.Ala235=)
c.691G= (p.Ala231=)
c.836G= (n.836G=)
c.631G= (p.Ala211=)
c.754G= (p.Ala252=)
c.706G= (p.Ala236=)
c.730G= (p.Ala244=)
c.343G= (p.Ala115=)
7g.128398527C>GCA369169098IMPDH1c.853G>C (p.Ala285Pro)
n.836G>C
c.961G>C (p.Ala321Pro)
c.593G>C
c.931G>C (p.Ala311Pro)
c.862G>C (p.Ala288Pro)
n.550G>C
c.726G>C
c.703G>C (p.Ala235Pro)
c.691G>C (p.Ala231Pro)
c.836G>C (n.836G>C)
c.631G>C (p.Ala211Pro)
c.754G>C (p.Ala252Pro)
c.706G>C (p.Ala236Pro)
c.730G>C (p.Ala244Pro)
c.343G>C (p.Ala115Pro)
7g.128398527C>TCA369169100IMPDH1c.853G>A (p.Ala285Thr)
n.836G>A
c.961G>A (p.Ala321Thr)
c.593G>A
c.931G>A (p.Ala311Thr)
c.862G>A (p.Ala288Thr)
n.550G>A
c.726G>A
c.703G>A (p.Ala235Thr)
c.691G>A (p.Ala231Thr)
c.836G>A (n.836G>A)
c.631G>A (p.Ala211Thr)
c.754G>A (p.Ala252Thr)
c.706G>A (p.Ala236Thr)
c.730G>A (p.Ala244Thr)
c.343G>A (p.Ala115Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.128398528C>ACA457528309IMPDH1c.852G>T (p.Leu284=)
n.835G>T
c.960G>T (p.Leu320=)
c.592G>T
c.930G>T (p.Leu310=)
c.861G>T (p.Leu287=)
n.549G>T
c.725G>T
c.702G>T (p.Leu234=)
c.690G>T (p.Leu230=)
c.835G>T (n.835G>T)
c.630G>T (p.Leu210=)
c.753G>T (p.Leu251=)
c.705G>T (p.Leu235=)
c.729G>T (p.Leu243=)
c.342G>T (p.Leu114=)
7g.128398528C>GCA457528310IMPDH1c.852G>C (p.Leu284=)
n.835G>C
c.960G>C (p.Leu320=)
c.592G>C
c.930G>C (p.Leu310=)
c.861G>C (p.Leu287=)
n.549G>C
c.725G>C
c.702G>C (p.Leu234=)
c.690G>C (p.Leu230=)
c.835G>C (n.835G>C)
c.630G>C (p.Leu210=)
c.753G>C (p.Leu251=)
c.705G>C (p.Leu235=)
c.729G>C (p.Leu243=)
c.342G>C (p.Leu114=)
7g.128398528C>TCA457528311IMPDH1c.852G>A (p.Leu284=)
n.835G>A
c.960G>A (p.Leu320=)
c.592G>A
c.930G>A (p.Leu310=)
c.861G>A (p.Leu287=)
n.549G>A
c.725G>A
c.702G>A (p.Leu234=)
c.690G>A (p.Leu230=)
c.835G>A (n.835G>A)
c.630G>A (p.Leu210=)
c.753G>A (p.Leu251=)
c.705G>A (p.Leu235=)
c.729G>A (p.Leu243=)
c.342G>A (p.Leu114=)
7g.128398529A=CA1742328158IMPDH1c.851T= (p.Leu284=)
n.834T=
c.959T= (p.Leu320=)
c.591T=
c.929T= (p.Leu310=)
c.860T= (p.Leu287=)
n.548T=
c.724T=
c.701T= (p.Leu234=)
c.689T= (p.Leu230=)
c.834T= (n.834T=)
c.629T= (p.Leu210=)
c.752T= (p.Leu251=)
c.704T= (p.Leu235=)
c.728T= (p.Leu243=)
c.341T= (p.Leu114=)
7g.128398529A>CCA369169107IMPDH1c.851T>G (p.Leu284Arg)
n.834T>G
c.959T>G (p.Leu320Arg)
c.591T>G
c.929T>G (p.Leu310Arg)
c.860T>G (p.Leu287Arg)
n.548T>G
c.724T>G
c.701T>G (p.Leu234Arg)
c.689T>G (p.Leu230Arg)
c.834T>G (n.834T>G)
c.629T>G (p.Leu210Arg)
c.752T>G (p.Leu251Arg)
c.704T>G (p.Leu235Arg)
c.728T>G (p.Leu243Arg)
c.341T>G (p.Leu114Arg)
7g.128398529A>GCA369169111IMPDH1c.851T>C (p.Leu284Pro)
n.834T>C
c.959T>C (p.Leu320Pro)
c.591T>C
c.929T>C (p.Leu310Pro)
c.860T>C (p.Leu287Pro)
n.548T>C
c.724T>C
c.701T>C (p.Leu234Pro)
c.689T>C (p.Leu230Pro)
c.834T>C (n.834T>C)
c.629T>C (p.Leu210Pro)
c.752T>C (p.Leu251Pro)
c.704T>C (p.Leu235Pro)
c.728T>C (p.Leu243Pro)
c.341T>C (p.Leu114Pro)
 ClinVar dbSNP
7g.128398529A>TCA369169115IMPDH1c.851T>A (p.Leu284Gln)
n.834T>A
c.959T>A (p.Leu320Gln)
c.591T>A
c.929T>A (p.Leu310Gln)
c.860T>A (p.Leu287Gln)
n.548T>A
c.724T>A
c.701T>A (p.Leu234Gln)
c.689T>A (p.Leu230Gln)
c.834T>A (n.834T>A)
c.629T>A (p.Leu210Gln)
c.752T>A (p.Leu251Gln)
c.704T>A (p.Leu235Gln)
c.728T>A (p.Leu243Gln)
c.341T>A (p.Leu114Gln)
7g.128398530G>ACA457528314IMPDH1c.850C>T (p.Leu284=)
n.833C>T
c.958C>T (p.Leu320=)
c.590C>T
c.928C>T (p.Leu310=)
c.859C>T (p.Leu287=)
n.547C>T
c.723C>T
c.700C>T (p.Leu234=)
c.688C>T (p.Leu230=)
c.833C>T (n.833C>T)
c.628C>T (p.Leu210=)
c.751C>T (p.Leu251=)
c.703C>T (p.Leu235=)
c.727C>T (p.Leu243=)
c.340C>T (p.Leu114=)
 COSMIC
7g.128398530G>CCA369169121IMPDH1c.850C>G (p.Leu284Val)
n.833C>G
c.958C>G (p.Leu320Val)
c.590C>G
c.928C>G (p.Leu310Val)
c.859C>G (p.Leu287Val)
n.547C>G
c.723C>G
c.700C>G (p.Leu234Val)
c.688C>G (p.Leu230Val)
c.833C>G (n.833C>G)
c.628C>G (p.Leu210Val)
c.751C>G (p.Leu251Val)
c.703C>G (p.Leu235Val)
c.727C>G (p.Leu243Val)
c.340C>G (p.Leu114Val)
7g.128398530G>TCA369169128IMPDH1c.850C>A (p.Leu284Met)
n.833C>A
c.958C>A (p.Leu320Met)
c.590C>A
c.928C>A (p.Leu310Met)
c.859C>A (p.Leu287Met)
n.547C>A
c.723C>A
c.700C>A (p.Leu234Met)
c.688C>A (p.Leu230Met)
c.833C>A (n.833C>A)
c.628C>A (p.Leu210Met)
c.751C>A (p.Leu251Met)
c.703C>A (p.Leu235Met)
c.727C>A (p.Leu243Met)
c.340C>A (p.Leu114Met)
7g.128398531A>CCA457528316IMPDH1c.849T>G (p.Pro283=)
n.832T>G
c.957T>G (p.Pro319=)
c.589T>G
c.927T>G (p.Pro309=)
c.858T>G (p.Pro286=)
n.546T>G
c.722T>G
c.699T>G (p.Pro233=)
c.687T>G (p.Pro229=)
c.832T>G (n.832T>G)
c.627T>G (p.Pro209=)
c.750T>G (p.Pro250=)
c.702T>G (p.Pro234=)
c.726T>G (p.Pro242=)
c.339T>G (p.Pro113=)
7g.128398531A>GCA457528317IMPDH1c.849T>C (p.Pro283=)
n.832T>C
c.957T>C (p.Pro319=)
c.589T>C
c.927T>C (p.Pro309=)
c.858T>C (p.Pro286=)
n.546T>C
c.722T>C
c.699T>C (p.Pro233=)
c.687T>C (p.Pro229=)
c.832T>C (n.832T>C)
c.627T>C (p.Pro209=)
c.750T>C (p.Pro250=)
c.702T>C (p.Pro234=)
c.726T>C (p.Pro242=)
c.339T>C (p.Pro113=)
7g.128398531A>TCA457528315IMPDH1c.849T>A (p.Pro283=)
n.832T>A
c.957T>A (p.Pro319=)
c.589T>A
c.927T>A (p.Pro309=)
c.858T>A (p.Pro286=)
n.546T>A
c.722T>A
c.699T>A (p.Pro233=)
c.687T>A (p.Pro229=)
c.832T>A (n.832T>A)
c.627T>A (p.Pro209=)
c.750T>A (p.Pro250=)
c.702T>A (p.Pro234=)
c.726T>A (p.Pro242=)
c.339T>A (p.Pro113=)
7g.128398532G>ACA369169134IMPDH1c.848C>T (p.Pro283Leu)
n.831C>T
c.956C>T (p.Pro319Leu)
c.588C>T
c.926C>T (p.Pro309Leu)
c.857C>T (p.Pro286Leu)
n.545C>T
c.721C>T
c.698C>T (p.Pro233Leu)
c.686C>T (p.Pro229Leu)
c.831C>T (n.831C>T)
c.626C>T (p.Pro209Leu)
c.749C>T (p.Pro250Leu)
c.701C>T (p.Pro234Leu)
c.725C>T (p.Pro242Leu)
c.338C>T (p.Pro113Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.128398532G>CCA369169156IMPDH1c.848C>G (p.Pro283Arg)
n.831C>G
c.956C>G (p.Pro319Arg)
c.588C>G
c.926C>G (p.Pro309Arg)
c.857C>G (p.Pro286Arg)
n.545C>G
c.721C>G
c.698C>G (p.Pro233Arg)
c.686C>G (p.Pro229Arg)
c.831C>G (n.831C>G)
c.626C>G (p.Pro209Arg)
c.749C>G (p.Pro250Arg)
c.701C>G (p.Pro234Arg)
c.725C>G (p.Pro242Arg)
c.338C>G (p.Pro113Arg)
7g.128398532G=CA1742328164IMPDH1c.848C= (p.Pro283=)
n.831C=
c.956C= (p.Pro319=)
c.588C=
c.926C= (p.Pro309=)
c.857C= (p.Pro286=)
n.545C=
c.721C=
c.698C= (p.Pro233=)
c.686C= (p.Pro229=)
c.831C= (n.831C=)
c.626C= (p.Pro209=)
c.749C= (p.Pro250=)
c.701C= (p.Pro234=)
c.725C= (p.Pro242=)
c.338C= (p.Pro113=)
7g.128398532G>TCA369169153IMPDH1c.848C>A (p.Pro283His)
n.831C>A
c.956C>A (p.Pro319His)
c.588C>A
c.926C>A (p.Pro309His)
c.857C>A (p.Pro286His)
n.545C>A
c.721C>A
c.698C>A (p.Pro233His)
c.686C>A (p.Pro229His)
c.831C>A (n.831C>A)
c.626C>A (p.Pro209His)
c.749C>A (p.Pro250His)
c.701C>A (p.Pro234His)
c.725C>A (p.Pro242His)
c.338C>A (p.Pro113His)
7g.128398534delCA2684777568IMPDH1c.848del (p.Pro283LeufsTer?)
n.831del
c.956del (p.Pro319LeufsTer?)
c.588del
c.926del (p.Pro309LeufsTer?)
c.857del (p.Pro286LeufsTer?)
n.545del
c.721del
c.698del (p.Pro233LeufsTer?)
c.686del (p.Pro229LeufsTer?)
c.831del (n.831del)
c.626del (p.Pro209LeufsTer?)
c.749del (p.Pro250LeufsTer?)
c.701del (p.Pro234LeufsTer?)
c.725del (p.Pro242LeufsTer?)
c.338del (p.Pro113LeufsTer?)
 gnomAD v4
7g.128398533G>ACA369169159IMPDH1c.847C>T (p.Pro283Ser)
n.830C>T
c.955C>T (p.Pro319Ser)
c.587C>T
c.925C>T (p.Pro309Ser)
c.856C>T (p.Pro286Ser)
n.544C>T
c.720C>T
c.697C>T (p.Pro233Ser)
c.685C>T (p.Pro229Ser)
c.830C>T (n.830C>T)
c.625C>T (p.Pro209Ser)
c.748C>T (p.Pro250Ser)
c.700C>T (p.Pro234Ser)
c.724C>T (p.Pro242Ser)
c.337C>T (p.Pro113Ser)
7g.128398533G>CCA369169160IMPDH1c.847C>G (p.Pro283Ala)
n.830C>G
c.955C>G (p.Pro319Ala)
c.587C>G
c.925C>G (p.Pro309Ala)
c.856C>G (p.Pro286Ala)
n.544C>G
c.720C>G
c.697C>G (p.Pro233Ala)
c.685C>G (p.Pro229Ala)
c.830C>G (n.830C>G)
c.625C>G (p.Pro209Ala)
c.748C>G (p.Pro250Ala)
c.700C>G (p.Pro234Ala)
c.724C>G (p.Pro242Ala)
c.337C>G (p.Pro113Ala)
 dbSNP gnomAD v4
7g.128398533G=CA1742328181IMPDH1c.847C= (p.Pro283=)
n.830C=
c.955C= (p.Pro319=)
c.587C=
c.925C= (p.Pro309=)
c.856C= (p.Pro286=)
n.544C=
c.720C=
c.697C= (p.Pro233=)
c.685C= (p.Pro229=)
c.830C= (n.830C=)
c.625C= (p.Pro209=)
c.748C= (p.Pro250=)
c.700C= (p.Pro234=)
c.724C= (p.Pro242=)
c.337C= (p.Pro113=)
7g.128398533G>TCA369169161IMPDH1c.847C>A (p.Pro283Thr)
n.830C>A
c.955C>A (p.Pro319Thr)
c.587C>A
c.925C>A (p.Pro309Thr)
c.856C>A (p.Pro286Thr)
n.544C>A
c.720C>A
c.697C>A (p.Pro233Thr)
c.685C>A (p.Pro229Thr)
c.830C>A (n.830C>A)
c.625C>A (p.Pro209Thr)
c.748C>A (p.Pro250Thr)
c.700C>A (p.Pro234Thr)
c.724C>A (p.Pro242Thr)
c.337C>A (p.Pro113Thr)
7g.128398534G>ACA457528322IMPDH1c.846C>T (p.Tyr282=)
n.829C>T
c.954C>T (p.Tyr318=)
c.586C>T
c.924C>T (p.Tyr308=)
c.855C>T (p.Tyr285=)
n.543C>T
c.719C>T
c.696C>T (p.Tyr232=)
c.684C>T (p.Tyr228=)
c.829C>T (n.829C>T)
c.624C>T (p.Tyr208=)
c.747C>T (p.Tyr249=)
c.699C>T (p.Tyr233=)
c.723C>T (p.Tyr241=)
c.336C>T (p.Tyr112=)
7g.128398534G>CCA369169165IMPDH1c.846C>G (p.Tyr282Ter)
n.829C>G
c.954C>G (p.Tyr318Ter)
c.586C>G
c.924C>G (p.Tyr308Ter)
c.855C>G (p.Tyr285Ter)
n.543C>G
c.719C>G
c.696C>G (p.Tyr232Ter)
c.684C>G (p.Tyr228Ter)
c.829C>G (n.829C>G)
c.624C>G (p.Tyr208Ter)
c.747C>G (p.Tyr249Ter)
c.699C>G (p.Tyr233Ter)
c.723C>G (p.Tyr241Ter)
c.336C>G (p.Tyr112Ter)
7g.128398534G>TCA369169169IMPDH1c.846C>A (p.Tyr282Ter)
n.829C>A
c.954C>A (p.Tyr318Ter)
c.586C>A
c.924C>A (p.Tyr308Ter)
c.855C>A (p.Tyr285Ter)
n.543C>A
c.719C>A
c.696C>A (p.Tyr232Ter)
c.684C>A (p.Tyr228Ter)
c.829C>A (n.829C>A)
c.624C>A (p.Tyr208Ter)
c.747C>A (p.Tyr249Ter)
c.699C>A (p.Tyr233Ter)
c.723C>A (p.Tyr241Ter)
c.336C>A (p.Tyr112Ter)
7g.128398534_128398535delinsGTCA1742328191IMPDH1c.845_846delinsAC (p.Tyr282=)
n.828_829delinsAC
c.953_954delinsAC (p.Tyr318=)
c.585_586delinsAC
c.923_924delinsAC (p.Tyr308=)
c.854_855delinsAC (p.Tyr285=)
n.542_543delinsAC
c.718_719delinsAC
c.695_696delinsAC (p.Tyr232=)
c.683_684delinsAC (p.Tyr228=)
c.828_829delinsAC (n.828_829delinsAC)
c.623_624delinsAC (p.Tyr208=)
c.746_747delinsAC (p.Tyr249=)
c.698_699delinsAC (p.Tyr233=)
c.722_723delinsAC (p.Tyr241=)
c.335_336delinsAC (p.Tyr112=)
7g.128398535delCA1742328195IMPDH1c.845del (p.Tyr282SerfsTer?)
n.828del
c.953del (p.Tyr318SerfsTer?)
c.585del
c.923del (p.Tyr308SerfsTer?)
c.854del (p.Tyr285SerfsTer?)
n.542del
c.718del
c.695del (p.Tyr232SerfsTer?)
c.683del (p.Tyr228SerfsTer?)
c.828del (n.828del)
c.623del (p.Tyr208SerfsTer?)
c.746del (p.Tyr249SerfsTer?)
c.698del (p.Tyr233SerfsTer?)
c.722del (p.Tyr241SerfsTer?)
c.335del (p.Tyr112SerfsTer?)
 dbSNP gnomAD v4
7g.128398535T>ACA369169176IMPDH1c.845A>T (p.Tyr282Phe)
n.828A>T
c.953A>T (p.Tyr318Phe)
c.585A>T
c.923A>T (p.Tyr308Phe)
c.854A>T (p.Tyr285Phe)
n.542A>T
c.718A>T
c.695A>T (p.Tyr232Phe)
c.683A>T (p.Tyr228Phe)
c.828A>T (n.828A>T)
c.623A>T (p.Tyr208Phe)
c.746A>T (p.Tyr249Phe)
c.698A>T (p.Tyr233Phe)
c.722A>T (p.Tyr241Phe)
c.335A>T (p.Tyr112Phe)
7g.128398535T>CCA369169182IMPDH1c.845A>G (p.Tyr282Cys)
n.828A>G
c.953A>G (p.Tyr318Cys)
c.585A>G
c.923A>G (p.Tyr308Cys)
c.854A>G (p.Tyr285Cys)
n.542A>G
c.718A>G
c.695A>G (p.Tyr232Cys)
c.683A>G (p.Tyr228Cys)
c.828A>G (n.828A>G)
c.623A>G (p.Tyr208Cys)
c.746A>G (p.Tyr249Cys)
c.698A>G (p.Tyr233Cys)
c.722A>G (p.Tyr241Cys)
c.335A>G (p.Tyr112Cys)
7g.128398535T>GCA369169188IMPDH1c.845A>C (p.Tyr282Ser)
n.828A>C
c.953A>C (p.Tyr318Ser)
c.585A>C
c.923A>C (p.Tyr308Ser)
c.854A>C (p.Tyr285Ser)
n.542A>C
c.718A>C
c.695A>C (p.Tyr232Ser)
c.683A>C (p.Tyr228Ser)
c.828A>C (n.828A>C)
c.623A>C (p.Tyr208Ser)
c.746A>C (p.Tyr249Ser)
c.698A>C (p.Tyr233Ser)
c.722A>C (p.Tyr241Ser)
c.335A>C (p.Tyr112Ser)
 dbSNP
7g.128398535T=CA1742328198IMPDH1c.845A= (p.Tyr282=)
n.828A=
c.953A= (p.Tyr318=)
c.585A=
c.923A= (p.Tyr308=)
c.854A= (p.Tyr285=)
n.542A=
c.718A=
c.695A= (p.Tyr232=)
c.683A= (p.Tyr228=)
c.828A= (n.828A=)
c.623A= (p.Tyr208=)
c.746A= (p.Tyr249=)
c.698A= (p.Tyr233=)
c.722A= (p.Tyr241=)
c.335A= (p.Tyr112=)
7g.128398536A=CA1742328204IMPDH1c.844T= (p.Tyr282=)
n.827T=
c.952T= (p.Tyr318=)
c.584T=
c.922T= (p.Tyr308=)
c.853T= (p.Tyr285=)
n.541T=
c.717T=
c.694T= (p.Tyr232=)
c.682T= (p.Tyr228=)
c.827T= (n.827T=)
c.622T= (p.Tyr208=)
c.745T= (p.Tyr249=)
c.697T= (p.Tyr233=)
c.721T= (p.Tyr241=)
c.334T= (p.Tyr112=)
7g.128398536A>CCA369169193IMPDH1c.844T>G (p.Tyr282Asp)
n.827T>G
c.952T>G (p.Tyr318Asp)
c.584T>G
c.922T>G (p.Tyr308Asp)
c.853T>G (p.Tyr285Asp)
n.541T>G
c.717T>G
c.694T>G (p.Tyr232Asp)
c.682T>G (p.Tyr228Asp)
c.827T>G (n.827T>G)
c.622T>G (p.Tyr208Asp)
c.745T>G (p.Tyr249Asp)
c.697T>G (p.Tyr233Asp)
c.721T>G (p.Tyr241Asp)
c.334T>G (p.Tyr112Asp)
7g.128398536A>GCA369169194IMPDH1c.844T>C (p.Tyr282His)
n.827T>C
c.952T>C (p.Tyr318His)
c.584T>C
c.922T>C (p.Tyr308His)
c.853T>C (p.Tyr285His)
n.541T>C
c.717T>C
c.694T>C (p.Tyr232His)
c.682T>C (p.Tyr228His)
c.827T>C (n.827T>C)
c.622T>C (p.Tyr208His)
c.745T>C (p.Tyr249His)
c.697T>C (p.Tyr233His)
c.721T>C (p.Tyr241His)
c.334T>C (p.Tyr112His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.128398536A>TCA369169195IMPDH1c.844T>A (p.Tyr282Asn)
n.827T>A
c.952T>A (p.Tyr318Asn)
c.584T>A
c.922T>A (p.Tyr308Asn)
c.853T>A (p.Tyr285Asn)
n.541T>A
c.717T>A
c.694T>A (p.Tyr232Asn)
c.682T>A (p.Tyr228Asn)
c.827T>A (n.827T>A)
c.622T>A (p.Tyr208Asn)
c.745T>A (p.Tyr249Asn)
c.697T>A (p.Tyr233Asn)
c.721T>A (p.Tyr241Asn)
c.334T>A (p.Tyr112Asn)
7g.128398537G>ACA457528323IMPDH1c.843C>T (p.Asp281=)
n.826C>T
c.951C>T (p.Asp317=)
c.583C>T
c.921C>T (p.Asp307=)
c.852C>T (p.Asp284=)
n.540C>T
c.716C>T
c.693C>T (p.Asp231=)
c.681C>T (p.Asp227=)
c.826C>T (n.826C>T)
c.621C>T (p.Asp207=)
c.744C>T (p.Asp248=)
c.696C>T (p.Asp232=)
c.720C>T (p.Asp240=)
c.333C>T (p.Asp111=)
 ClinVar gnomAD v4
7g.128398537G>CCA369169203IMPDH1c.843C>G (p.Asp281Glu)
n.826C>G
c.951C>G (p.Asp317Glu)
c.583C>G
c.921C>G (p.Asp307Glu)
c.852C>G (p.Asp284Glu)
n.540C>G
c.716C>G
c.693C>G (p.Asp231Glu)
c.681C>G (p.Asp227Glu)
c.826C>G (n.826C>G)
c.621C>G (p.Asp207Glu)
c.744C>G (p.Asp248Glu)
c.696C>G (p.Asp232Glu)
c.720C>G (p.Asp240Glu)
c.333C>G (p.Asp111Glu)
7g.128398537G>TCA369169198IMPDH1c.843C>A (p.Asp281Glu)
n.826C>A
c.951C>A (p.Asp317Glu)
c.583C>A
c.921C>A (p.Asp307Glu)
c.852C>A (p.Asp284Glu)
n.540C>A
c.716C>A
c.693C>A (p.Asp231Glu)
c.681C>A (p.Asp227Glu)
c.826C>A (n.826C>A)
c.621C>A (p.Asp207Glu)
c.744C>A (p.Asp248Glu)
c.696C>A (p.Asp232Glu)
c.720C>A (p.Asp240Glu)
c.333C>A (p.Asp111Glu)
7g.128398537_128398538insACA2777839034IMPDH1c.842_843insT (p.Tyr282LeufsTer22)
n.825_826insT
c.950_951insT (p.Tyr318LeufsTer22)
c.582_583insT
c.920_921insT (p.Tyr308LeufsTer22)
c.851_852insT (p.Tyr285LeufsTer22)
n.539_540insT
c.715_716insT
c.692_693insT (p.Tyr232LeufsTer22)
c.680_681insT (p.Tyr228LeufsTer22)
c.825_826insT (n.825_826insT)
c.620_621insT (p.Tyr208LeufsTer22)
c.743_744insT (p.Tyr249LeufsTer22)
c.695_696insT (p.Tyr233LeufsTer22)
c.719_720insT (p.Tyr241LeufsTer22)
c.332_333insT (p.Tyr112LeufsTer22)
7g.128398538T>ACA369169210IMPDH1c.842A>T (p.Asp281Val)
n.825A>T
c.950A>T (p.Asp317Val)
c.582A>T
c.920A>T (p.Asp307Val)
c.851A>T (p.Asp284Val)
n.539A>T
c.715A>T
c.692A>T (p.Asp231Val)
c.680A>T (p.Asp227Val)
c.825A>T (n.825A>T)
c.620A>T (p.Asp207Val)
c.743A>T (p.Asp248Val)
c.695A>T (p.Asp232Val)
c.719A>T (p.Asp240Val)
c.332A>T (p.Asp111Val)
 COSMIC
7g.128398538T>CCA369169213IMPDH1c.842A>G (p.Asp281Gly)
n.825A>G
c.950A>G (p.Asp317Gly)
c.582A>G
c.920A>G (p.Asp307Gly)
c.851A>G (p.Asp284Gly)
n.539A>G
c.715A>G
c.692A>G (p.Asp231Gly)
c.680A>G (p.Asp227Gly)
c.825A>G (n.825A>G)
c.620A>G (p.Asp207Gly)
c.743A>G (p.Asp248Gly)
c.695A>G (p.Asp232Gly)
c.719A>G (p.Asp240Gly)
c.332A>G (p.Asp111Gly)
7g.128398538T>GCA369169215IMPDH1c.842A>C (p.Asp281Ala)
n.825A>C
c.950A>C (p.Asp317Ala)
c.582A>C
c.920A>C (p.Asp307Ala)
c.851A>C (p.Asp284Ala)
n.539A>C
c.715A>C
c.692A>C (p.Asp231Ala)
c.680A>C (p.Asp227Ala)
c.825A>C (n.825A>C)
c.620A>C (p.Asp207Ala)
c.743A>C (p.Asp248Ala)
c.695A>C (p.Asp232Ala)
c.719A>C (p.Asp240Ala)
c.332A>C (p.Asp111Ala)
 dbSNP
7g.128398538T=CA1742328207IMPDH1c.842A= (p.Asp281=)
n.825A=
c.950A= (p.Asp317=)
c.582A=
c.920A= (p.Asp307=)
c.851A= (p.Asp284=)
n.539A=
c.715A=
c.692A= (p.Asp231=)
c.680A= (p.Asp227=)
c.825A= (n.825A=)
c.620A= (p.Asp207=)
c.743A= (p.Asp248=)
c.695A= (p.Asp232=)
c.719A= (p.Asp240=)
c.332A= (p.Asp111=)
7g.128398539C>ACA369169218IMPDH1c.841G>T (p.Asp281Tyr)
n.824G>T
c.949G>T (p.Asp317Tyr)
c.581G>T
c.919G>T (p.Asp307Tyr)
c.850G>T (p.Asp284Tyr)
n.538G>T
c.714G>T
c.691G>T (p.Asp231Tyr)
c.679G>T (p.Asp227Tyr)
c.824G>T (n.824G>T)
c.619G>T (p.Asp207Tyr)
c.742G>T (p.Asp248Tyr)
c.694G>T (p.Asp232Tyr)
c.718G>T (p.Asp240Tyr)
c.331G>T (p.Asp111Tyr)
7g.128398539C=CA1742328211IMPDH1c.841G= (p.Asp281=)
n.824G=
c.949G= (p.Asp317=)
c.581G=
c.919G= (p.Asp307=)
c.850G= (p.Asp284=)
n.538G=
c.714G=
c.691G= (p.Asp231=)
c.679G= (p.Asp227=)
c.824G= (n.824G=)
c.619G= (p.Asp207=)
c.742G= (p.Asp248=)
c.694G= (p.Asp232=)
c.718G= (p.Asp240=)
c.331G= (p.Asp111=)
7g.128398539C>GCA369169219IMPDH1c.841G>C (p.Asp281His)
n.824G>C
c.949G>C (p.Asp317His)
c.581G>C
c.919G>C (p.Asp307His)
c.850G>C (p.Asp284His)
n.538G>C
c.714G>C
c.691G>C (p.Asp231His)
c.679G>C (p.Asp227His)
c.824G>C (n.824G>C)
c.619G>C (p.Asp207His)
c.742G>C (p.Asp248His)
c.694G>C (p.Asp232His)
c.718G>C (p.Asp240His)
c.331G>C (p.Asp111His)
7g.128398539C>TCA369169221IMPDH1c.841G>A (p.Asp281Asn)
n.824G>A
c.949G>A (p.Asp317Asn)
c.581G>A
c.919G>A (p.Asp307Asn)
c.850G>A (p.Asp284Asn)
n.538G>A
c.714G>A
c.691G>A (p.Asp231Asn)
c.679G>A (p.Asp227Asn)
c.824G>A (n.824G>A)
c.619G>A (p.Asp207Asn)
c.742G>A (p.Asp248Asn)
c.694G>A (p.Asp232Asn)
c.718G>A (p.Asp240Asn)
c.331G>A (p.Asp111Asn)
 dbSNP gnomAD v3 gnomAD v4
7g.128398540T>ACA457528329IMPDH1c.840A>T (p.Arg280=)
n.823A>T
c.948A>T (p.Arg316=)
c.580A>T
c.918A>T (p.Arg306=)
c.849A>T (p.Arg283=)
n.537A>T
c.713A>T
c.690A>T (p.Arg230=)
c.678A>T (p.Arg226=)
c.823A>T (n.823A>T)
c.618A>T (p.Arg206=)
c.741A>T (p.Arg247=)
c.693A>T (p.Arg231=)
c.717A>T (p.Arg239=)
c.330A>T (p.Arg110=)
7g.128398540T>CCA457528331IMPDH1c.840A>G (p.Arg280=)
n.823A>G
c.948A>G (p.Arg316=)
c.580A>G
c.918A>G (p.Arg306=)
c.849A>G (p.Arg283=)
n.537A>G
c.713A>G
c.690A>G (p.Arg230=)
c.678A>G (p.Arg226=)
c.823A>G (n.823A>G)
c.618A>G (p.Arg206=)
c.741A>G (p.Arg247=)
c.693A>G (p.Arg231=)
c.717A>G (p.Arg239=)
c.330A>G (p.Arg110=)
7g.128398540T>GCA457528332IMPDH1c.840A>C (p.Arg280=)
n.823A>C
c.948A>C (p.Arg316=)
c.580A>C
c.918A>C (p.Arg306=)
c.849A>C (p.Arg283=)
n.537A>C
c.713A>C
c.690A>C (p.Arg230=)
c.678A>C (p.Arg226=)
c.823A>C (n.823A>C)
c.618A>C (p.Arg206=)
c.741A>C (p.Arg247=)
c.693A>C (p.Arg231=)
c.717A>C (p.Arg239=)
c.330A>C (p.Arg110=)
7g.128398541C>ACA369169232IMPDH1c.839G>T (p.Arg280Leu)
n.822G>T
c.947G>T (p.Arg316Leu)
c.579G>T
c.917G>T (p.Arg306Leu)
c.848G>T (p.Arg283Leu)
n.536G>T
c.712G>T
c.689G>T (p.Arg230Leu)
c.677G>T (p.Arg226Leu)
c.822G>T (n.822G>T)
c.617G>T (p.Arg206Leu)
c.740G>T (p.Arg247Leu)
c.692G>T (p.Arg231Leu)
c.716G>T (p.Arg239Leu)
c.329G>T (p.Arg110Leu)
7g.128398541C=CA1742328220IMPDH1c.839G= (p.Arg280=)
n.822G=
c.947G= (p.Arg316=)
c.579G=
c.917G= (p.Arg306=)
c.848G= (p.Arg283=)
n.536G=
c.712G=
c.689G= (p.Arg230=)
c.677G= (p.Arg226=)
c.822G= (n.822G=)
c.617G= (p.Arg206=)
c.740G= (p.Arg247=)
c.692G= (p.Arg231=)
c.716G= (p.Arg239=)
c.329G= (p.Arg110=)
7g.128398541C>GCA369169224IMPDH1c.839G>C (p.Arg280Pro)
n.822G>C
c.947G>C (p.Arg316Pro)
c.579G>C
c.917G>C (p.Arg306Pro)
c.848G>C (p.Arg283Pro)
n.536G>C
c.712G>C
c.689G>C (p.Arg230Pro)
c.677G>C (p.Arg226Pro)
c.822G>C (n.822G>C)
c.617G>C (p.Arg206Pro)
c.740G>C (p.Arg247Pro)
c.692G>C (p.Arg231Pro)
c.716G>C (p.Arg239Pro)
c.329G>C (p.Arg110Pro)
7g.128398541C>TCA369169226IMPDH1c.839G>A (p.Arg280Gln)
n.822G>A
c.947G>A (p.Arg316Gln)
c.579G>A
c.917G>A (p.Arg306Gln)
c.848G>A (p.Arg283Gln)
n.536G>A
c.712G>A
c.689G>A (p.Arg230Gln)
c.677G>A (p.Arg226Gln)
c.822G>A (n.822G>A)
c.617G>A (p.Arg206Gln)
c.740G>A (p.Arg247Gln)
c.692G>A (p.Arg231Gln)
c.716G>A (p.Arg239Gln)
c.329G>A (p.Arg110Gln)
 ClinVar dbSNP gnomAD v4
7g.128398542G>ACA369169237IMPDH1c.838C>T (p.Arg280Ter)
n.821C>T
c.946C>T (p.Arg316Ter)
c.578C>T
c.916C>T (p.Arg306Ter)
c.847C>T (p.Arg283Ter)
n.535C>T
c.711C>T
c.688C>T (p.Arg230Ter)
c.676C>T (p.Arg226Ter)
c.821C>T (n.821C>T)
c.616C>T (p.Arg206Ter)
c.739C>T (p.Arg247Ter)
c.691C>T (p.Arg231Ter)
c.715C>T (p.Arg239Ter)
c.328C>T (p.Arg110Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.128398542G>CCA369169240IMPDH1c.838C>G (p.Arg280Gly)
n.821C>G
c.946C>G (p.Arg316Gly)
c.578C>G
c.916C>G (p.Arg306Gly)
c.847C>G (p.Arg283Gly)
n.535C>G
c.711C>G
c.688C>G (p.Arg230Gly)
c.676C>G (p.Arg226Gly)
c.821C>G (n.821C>G)
c.616C>G (p.Arg206Gly)
c.739C>G (p.Arg247Gly)
c.691C>G (p.Arg231Gly)
c.715C>G (p.Arg239Gly)
c.328C>G (p.Arg110Gly)
7g.128398542G=CA1742328241IMPDH1c.838C= (p.Arg280=)
n.821C=
c.946C= (p.Arg316=)
c.578C=
c.916C= (p.Arg306=)
c.847C= (p.Arg283=)
n.535C=
c.711C=
c.688C= (p.Arg230=)
c.676C= (p.Arg226=)
c.821C= (n.821C=)
c.616C= (p.Arg206=)
c.739C= (p.Arg247=)
c.691C= (p.Arg231=)
c.715C= (p.Arg239=)
c.328C= (p.Arg110=)
7g.128398542G>TCA457528333IMPDH1c.838C>A (p.Arg280=)
n.821C>A
c.946C>A (p.Arg316=)
c.578C>A
c.916C>A (p.Arg306=)
c.847C>A (p.Arg283=)
n.535C>A
c.711C>A
c.688C>A (p.Arg230=)
c.676C>A (p.Arg226=)
c.821C>A (n.821C>A)
c.616C>A (p.Arg206=)
c.739C>A (p.Arg247=)
c.691C>A (p.Arg231=)
c.715C>A (p.Arg239=)
c.328C>A (p.Arg110=)
 dbSNP gnomAD v4 COSMIC COSMIC
7g.128398543G>ACA166126072IMPDH1c.837C>T (p.Asn279=)
n.820C>T
c.945C>T (p.Asn315=)
c.577C>T
c.915C>T (p.Asn305=)
c.846C>T (p.Asn282=)
n.534C>T
c.710C>T
c.687C>T (p.Asn229=)
c.675C>T (p.Asn225=)
c.820C>T (n.820C>T)
c.615C>T (p.Asn205=)
c.738C>T (p.Asn246=)
c.690C>T (p.Asn230=)
c.714C>T (p.Asn238=)
c.327C>T (p.Asn109=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.128398543G>CCA369169244IMPDH1c.837C>G (p.Asn279Lys)
n.820C>G
c.945C>G (p.Asn315Lys)
c.577C>G
c.915C>G (p.Asn305Lys)
c.846C>G (p.Asn282Lys)
n.534C>G
c.710C>G
c.687C>G (p.Asn229Lys)
c.675C>G (p.Asn225Lys)
c.820C>G (n.820C>G)
c.615C>G (p.Asn205Lys)
c.738C>G (p.Asn246Lys)
c.690C>G (p.Asn230Lys)
c.714C>G (p.Asn238Lys)
c.327C>G (p.Asn109Lys)
 ClinVar dbSNP
7g.128398543G=CA1742328255IMPDH1c.837C= (p.Asn279=)
n.820C=
c.945C= (p.Asn315=)
c.577C=
c.915C= (p.Asn305=)
c.846C= (p.Asn282=)
n.534C=
c.710C=
c.687C= (p.Asn229=)
c.675C= (p.Asn225=)
c.820C= (n.820C=)
c.615C= (p.Asn205=)
c.738C= (p.Asn246=)
c.690C= (p.Asn230=)
c.714C= (p.Asn238=)
c.327C= (p.Asn109=)
7g.128398543G>TCA369169245IMPDH1c.837C>A (p.Asn279Lys)
n.820C>A
c.945C>A (p.Asn315Lys)
c.577C>A
c.915C>A (p.Asn305Lys)
c.846C>A (p.Asn282Lys)
n.534C>A
c.710C>A
c.687C>A (p.Asn229Lys)
c.675C>A (p.Asn225Lys)
c.820C>A (n.820C>A)
c.615C>A (p.Asn205Lys)
c.738C>A (p.Asn246Lys)
c.690C>A (p.Asn230Lys)
c.714C>A (p.Asn238Lys)
c.327C>A (p.Asn109Lys)
 COSMIC COSMIC
7g.128398543_128398546delinsGTTCCA1742328250IMPDH1c.834_837delinsGAAC (p.Lys278=)
n.817_820delinsGAAC
c.942_945delinsGAAC (p.Lys314=)
c.574_577delinsGAAC
c.912_915delinsGAAC (p.Lys304=)
c.843_846delinsGAAC (p.Lys281=)
n.531_534delinsGAAC
c.707_710delinsGAAC
c.684_687delinsGAAC (p.Lys228=)
c.672_675delinsGAAC (p.Lys224=)
c.817_820delinsGAAC (n.817_820delinsGAAC)
c.612_615delinsGAAC (p.Lys204=)
c.735_738delinsGAAC (p.Lys245=)
c.687_690delinsGAAC (p.Lys229=)
c.711_714delinsGAAC (p.Lys237=)
c.324_327delinsGAAC (p.Lys108=)
7g.128398544T>ACA369169257IMPDH1c.836A>T (p.Asn279Ile)
n.819A>T
c.944A>T (p.Asn315Ile)
c.576A>T
c.914A>T (p.Asn305Ile)
c.845A>T (p.Asn282Ile)
n.533A>T
c.709A>T
c.686A>T (p.Asn229Ile)
c.674A>T (p.Asn225Ile)
c.819A>T (n.819A>T)
c.614A>T (p.Asn205Ile)
c.737A>T (p.Asn246Ile)
c.689A>T (p.Asn230Ile)
c.713A>T (p.Asn238Ile)
c.326A>T (p.Asn109Ile)
7g.128398544T>CCA369169251IMPDH1c.836A>G (p.Asn279Ser)
n.819A>G
c.944A>G (p.Asn315Ser)
c.576A>G
c.914A>G (p.Asn305Ser)
c.845A>G (p.Asn282Ser)
n.533A>G
c.709A>G
c.686A>G (p.Asn229Ser)
c.674A>G (p.Asn225Ser)
c.819A>G (n.819A>G)
c.614A>G (p.Asn205Ser)
c.737A>G (p.Asn246Ser)
c.689A>G (p.Asn230Ser)
c.713A>G (p.Asn238Ser)
c.326A>G (p.Asn109Ser)
7g.128398544T>GCA369169255IMPDH1c.836A>C (p.Asn279Thr)
n.819A>C
c.944A>C (p.Asn315Thr)
c.576A>C
c.914A>C (p.Asn305Thr)
c.845A>C (p.Asn282Thr)
n.533A>C
c.709A>C
c.686A>C (p.Asn229Thr)
c.674A>C (p.Asn225Thr)
c.819A>C (n.819A>C)
c.614A>C (p.Asn205Thr)
c.737A>C (p.Asn246Thr)
c.689A>C (p.Asn230Thr)
c.713A>C (p.Asn238Thr)
c.326A>C (p.Asn109Thr)
7g.128398550_128398552delCA658683499IMPDH1c.834_836del (p.Lys278del)
n.817_819del
c.942_944del (p.Lys314del)
c.574_576del
c.912_914del (p.Lys304del)
c.843_845del (p.Lys281del)
n.531_533del
c.707_709del
c.684_686del (p.Lys228del)
c.672_674del (p.Lys224del)
c.817_819del (n.817_819del)
c.612_614del (p.Lys204del)
c.735_737del (p.Lys245del)
c.687_689del (p.Lys229del)
c.711_713del (p.Lys237del)
c.324_326del (p.Lys108del)
 ClinVar dbSNP
7g.128398545T>ACA369169260IMPDH1c.835A>T (p.Asn279Tyr)
n.818A>T
c.943A>T (p.Asn315Tyr)
c.575A>T
c.913A>T (p.Asn305Tyr)
c.844A>T (p.Asn282Tyr)
n.532A>T
c.708A>T
c.685A>T (p.Asn229Tyr)
c.673A>T (p.Asn225Tyr)
c.818A>T (n.818A>T)
c.613A>T (p.Asn205Tyr)
c.736A>T (p.Asn246Tyr)
c.688A>T (p.Asn230Tyr)
c.712A>T (p.Asn238Tyr)
c.325A>T (p.Asn109Tyr)
 ClinVar dbSNP
7g.128398545T>CCA369169264IMPDH1c.835A>G (p.Asn279Asp)
n.818A>G
c.943A>G (p.Asn315Asp)
c.575A>G
c.913A>G (p.Asn305Asp)
c.844A>G (p.Asn282Asp)
n.532A>G
c.708A>G
c.685A>G (p.Asn229Asp)
c.673A>G (p.Asn225Asp)
c.818A>G (n.818A>G)
c.613A>G (p.Asn205Asp)
c.736A>G (p.Asn246Asp)
c.688A>G (p.Asn230Asp)
c.712A>G (p.Asn238Asp)
c.325A>G (p.Asn109Asp)
7g.128398545T>GCA369169267IMPDH1c.835A>C (p.Asn279His)
n.818A>C
c.943A>C (p.Asn315His)
c.575A>C
c.913A>C (p.Asn305His)
c.844A>C (p.Asn282His)
n.532A>C
c.708A>C
c.685A>C (p.Asn229His)
c.673A>C (p.Asn225His)
c.818A>C (n.818A>C)
c.613A>C (p.Asn205His)
c.736A>C (p.Asn246His)
c.688A>C (p.Asn230His)
c.712A>C (p.Asn238His)
c.325A>C (p.Asn109His)
7g.128398545T=CA1742328277IMPDH1c.835A= (p.Asn279=)
n.818A=
c.943A= (p.Asn315=)
c.575A=
c.913A= (p.Asn305=)
c.844A= (p.Asn282=)
n.532A=
c.708A=
c.685A= (p.Asn229=)
c.673A= (p.Asn225=)
c.818A= (n.818A=)
c.613A= (p.Asn205=)
c.736A= (p.Asn246=)
c.688A= (p.Asn230=)
c.712A= (p.Asn238=)
c.325A= (p.Asn109=)
7g.128398545_128398546delinsGGCA2580076515IMPDH1c.834_835delinsCC (p.Lys278_Asn279delinsAsnHis)
n.817_818delinsCC
c.942_943delinsCC (p.Lys314_Asn315delinsAsnHis)
c.574_575delinsCC
c.912_913delinsCC (p.Lys304_Asn305delinsAsnHis)
c.843_844delinsCC (p.Lys281_Asn282delinsAsnHis)
n.531_532delinsCC
c.707_708delinsCC
c.684_685delinsCC (p.Lys228_Asn229delinsAsnHis)
c.672_673delinsCC (p.Lys224_Asn225delinsAsnHis)
c.817_818delinsCC (n.817_818delinsCC)
c.612_613delinsCC (p.Lys204_Asn205delinsAsnHis)
c.735_736delinsCC (p.Lys245_Asn246delinsAsnHis)
c.687_688delinsCC (p.Lys229_Asn230delinsAsnHis)
c.711_712delinsCC (p.Lys237_Asn238delinsAsnHis)
c.324_325delinsCC (p.Lys108_Asn109delinsAsnHis)
 ClinVar
7g.128398546C>ACA369169270IMPDH1c.834G>T (p.Lys278Asn)
n.817G>T
c.942G>T (p.Lys314Asn)
c.574G>T
c.912G>T (p.Lys304Asn)
c.843G>T (p.Lys281Asn)
n.531G>T
c.707G>T
c.684G>T (p.Lys228Asn)
c.672G>T (p.Lys224Asn)
c.817G>T (n.817G>T)
c.612G>T (p.Lys204Asn)
c.735G>T (p.Lys245Asn)
c.687G>T (p.Lys229Asn)
c.711G>T (p.Lys237Asn)
c.324G>T (p.Lys108Asn)
 ClinVar dbSNP
7g.128398546C=CA1742328296IMPDH1c.834G= (p.Lys278=)
n.817G=
c.942G= (p.Lys314=)
c.574G=
c.912G= (p.Lys304=)
c.843G= (p.Lys281=)
n.531G=
c.707G=
c.684G= (p.Lys228=)
c.672G= (p.Lys224=)
c.817G= (n.817G=)
c.612G= (p.Lys204=)
c.735G= (p.Lys245=)
c.687G= (p.Lys229=)
c.711G= (p.Lys237=)
c.324G= (p.Lys108=)
7g.128398546C>GCA369169283IMPDH1c.834G>C (p.Lys278Asn)
n.817G>C
c.942G>C (p.Lys314Asn)
c.574G>C
c.912G>C (p.Lys304Asn)
c.843G>C (p.Lys281Asn)
n.531G>C
c.707G>C
c.684G>C (p.Lys228Asn)
c.672G>C (p.Lys224Asn)
c.817G>C (n.817G>C)
c.612G>C (p.Lys204Asn)
c.735G>C (p.Lys245Asn)
c.687G>C (p.Lys229Asn)
c.711G>C (p.Lys237Asn)
c.324G>C (p.Lys108Asn)
 ClinVar
7g.128398546C>TCA457528340IMPDH1c.834G>A (p.Lys278=)
n.817G>A
c.942G>A (p.Lys314=)
c.574G>A
c.912G>A (p.Lys304=)
c.843G>A (p.Lys281=)
n.531G>A
c.707G>A
c.684G>A (p.Lys228=)
c.672G>A (p.Lys224=)
c.817G>A (n.817G>A)
c.612G>A (p.Lys204=)
c.735G>A (p.Lys245=)
c.687G>A (p.Lys229=)
c.711G>A (p.Lys237=)
c.324G>A (p.Lys108=)
7g.128398547T>ACA369169297IMPDH1c.833A>T (p.Lys278Met)
n.816A>T
c.941A>T (p.Lys314Met)
c.573A>T
c.911A>T (p.Lys304Met)
c.842A>T (p.Lys281Met)
n.530A>T
c.706A>T
c.683A>T (p.Lys228Met)
c.671A>T (p.Lys224Met)
c.816A>T (n.816A>T)
c.611A>T (p.Lys204Met)
c.734A>T (p.Lys245Met)
c.686A>T (p.Lys229Met)
c.710A>T (p.Lys237Met)
c.323A>T (p.Lys108Met)
7g.128398547T>CCA369169310IMPDH1c.833A>G (p.Lys278Arg)
n.816A>G
c.941A>G (p.Lys314Arg)
c.573A>G
c.911A>G (p.Lys304Arg)
c.842A>G (p.Lys281Arg)
n.530A>G
c.706A>G
c.683A>G (p.Lys228Arg)
c.671A>G (p.Lys224Arg)
c.816A>G (n.816A>G)
c.611A>G (p.Lys204Arg)
c.734A>G (p.Lys245Arg)
c.686A>G (p.Lys229Arg)
c.710A>G (p.Lys237Arg)
c.323A>G (p.Lys108Arg)
7g.128398547T>GCA369169321IMPDH1c.833A>C (p.Lys278Thr)
n.816A>C
c.941A>C (p.Lys314Thr)
c.573A>C
c.911A>C (p.Lys304Thr)
c.842A>C (p.Lys281Thr)
n.530A>C
c.706A>C
c.683A>C (p.Lys228Thr)
c.671A>C (p.Lys224Thr)
c.816A>C (n.816A>C)
c.611A>C (p.Lys204Thr)
c.734A>C (p.Lys245Thr)
c.686A>C (p.Lys229Thr)
c.710A>C (p.Lys237Thr)
c.323A>C (p.Lys108Thr)
7g.128398548T>ACA369169328IMPDH1c.832A>T (p.Lys278Ter)
n.815A>T
c.940A>T (p.Lys314Ter)
c.572A>T
c.910A>T (p.Lys304Ter)
c.841A>T (p.Lys281Ter)
n.529A>T
c.705A>T
c.682A>T (p.Lys228Ter)
c.670A>T (p.Lys224Ter)
c.815A>T (n.815A>T)
c.610A>T (p.Lys204Ter)
c.733A>T (p.Lys245Ter)
c.685A>T (p.Lys229Ter)
c.709A>T (p.Lys237Ter)
c.322A>T (p.Lys108Ter)
7g.128398548T>CCA166126091IMPDH1c.832A>G (p.Lys278Glu)
n.815A>G
c.940A>G (p.Lys314Glu)
c.572A>G
c.910A>G (p.Lys304Glu)
c.841A>G (p.Lys281Glu)
n.529A>G
c.705A>G
c.682A>G (p.Lys228Glu)
c.670A>G (p.Lys224Glu)
c.815A>G (n.815A>G)
c.610A>G (p.Lys204Glu)
c.733A>G (p.Lys245Glu)
c.685A>G (p.Lys229Glu)
c.709A>G (p.Lys237Glu)
c.322A>G (p.Lys108Glu)
 ClinVar dbSNP
7g.128398548T>GCA369169337IMPDH1c.832A>C (p.Lys278Gln)
n.815A>C
c.940A>C (p.Lys314Gln)
c.572A>C
c.910A>C (p.Lys304Gln)
c.841A>C (p.Lys281Gln)
n.529A>C
c.705A>C
c.682A>C (p.Lys228Gln)
c.670A>C (p.Lys224Gln)
c.815A>C (n.815A>C)
c.610A>C (p.Lys204Gln)
c.733A>C (p.Lys245Gln)
c.685A>C (p.Lys229Gln)
c.709A>C (p.Lys237Gln)
c.322A>C (p.Lys108Gln)
7g.128398548T=CA1742328306IMPDH1c.832A= (p.Lys278=)
n.815A=
c.940A= (p.Lys314=)
c.572A=
c.910A= (p.Lys304=)
c.841A= (p.Lys281=)
n.529A=
c.705A=
c.682A= (p.Lys228=)
c.670A= (p.Lys224=)
c.815A= (n.815A=)
c.610A= (p.Lys204=)
c.733A= (p.Lys245=)
c.685A= (p.Lys229=)
c.709A= (p.Lys237=)
c.322A= (p.Lys108=)
7g.128398548_128398549insGAACA916082962IMPDH1c.831_832insTTC (p.Lys277_Lys278insPhe)
n.814_815insTTC
c.939_940insTTC (p.Lys313_Lys314insPhe)
c.571_572insTTC
c.909_910insTTC (p.Lys303_Lys304insPhe)
c.840_841insTTC (p.Lys280_Lys281insPhe)
n.528_529insTTC
c.704_705insTTC
c.681_682insTTC (p.Lys227_Lys228insPhe)
c.669_670insTTC (p.Lys223_Lys224insPhe)
c.814_815insTTC (n.814_815insTTC)
c.609_610insTTC (p.Lys203_Lys204insPhe)
c.732_733insTTC (p.Lys244_Lys245insPhe)
c.684_685insTTC (p.Lys228_Lys229insPhe)
c.708_709insTTC (p.Lys236_Lys237insPhe)
c.321_322insTTC (p.Lys107_Lys108insPhe)
 ClinVar dbSNP
7g.128398549C>ACA369169338IMPDH1c.831G>T (p.Lys277Asn)
n.814G>T
c.939G>T (p.Lys313Asn)
c.571G>T
c.909G>T (p.Lys303Asn)
c.840G>T (p.Lys280Asn)
n.528G>T
c.704G>T
c.681G>T (p.Lys227Asn)
c.669G>T (p.Lys223Asn)
c.814G>T (n.814G>T)
c.609G>T (p.Lys203Asn)
c.732G>T (p.Lys244Asn)
c.684G>T (p.Lys228Asn)
c.708G>T (p.Lys236Asn)
c.321G>T (p.Lys107Asn)
7g.128398549C>GCA369169339IMPDH1c.831G>C (p.Lys277Asn)
n.814G>C
c.939G>C (p.Lys313Asn)
c.571G>C
c.909G>C (p.Lys303Asn)
c.840G>C (p.Lys280Asn)
n.528G>C
c.704G>C
c.681G>C (p.Lys227Asn)
c.669G>C (p.Lys223Asn)
c.814G>C (n.814G>C)
c.609G>C (p.Lys203Asn)
c.732G>C (p.Lys244Asn)
c.684G>C (p.Lys228Asn)
c.708G>C (p.Lys236Asn)
c.321G>C (p.Lys107Asn)
7g.128398549C>TCA457528344IMPDH1c.831G>A (p.Lys277=)
n.814G>A
c.939G>A (p.Lys313=)
c.571G>A
c.909G>A (p.Lys303=)
c.840G>A (p.Lys280=)
n.528G>A
c.704G>A
c.681G>A (p.Lys227=)
c.669G>A (p.Lys223=)
c.814G>A (n.814G>A)
c.609G>A (p.Lys203=)
c.732G>A (p.Lys244=)
c.684G>A (p.Lys228=)
c.708G>A (p.Lys236=)
c.321G>A (p.Lys107=)
7g.128398550T>ACA369169344IMPDH1c.830A>T (p.Lys277Met)
n.813A>T
c.938A>T (p.Lys313Met)
c.570A>T
c.908A>T (p.Lys303Met)
c.839A>T (p.Lys280Met)
n.527A>T
c.703A>T
c.680A>T (p.Lys227Met)
c.668A>T (p.Lys223Met)
c.813A>T (n.813A>T)
c.608A>T (p.Lys203Met)
c.731A>T (p.Lys244Met)
c.683A>T (p.Lys228Met)
c.707A>T (p.Lys236Met)
c.320A>T (p.Lys107Met)
7g.128398550T>CCA369169351IMPDH1c.830A>G (p.Lys277Arg)
n.813A>G
c.938A>G (p.Lys313Arg)
c.570A>G
c.908A>G (p.Lys303Arg)
c.839A>G (p.Lys280Arg)
n.527A>G
c.703A>G
c.680A>G (p.Lys227Arg)
c.668A>G (p.Lys223Arg)
c.813A>G (n.813A>G)
c.608A>G (p.Lys203Arg)
c.731A>G (p.Lys244Arg)
c.683A>G (p.Lys228Arg)
c.707A>G (p.Lys236Arg)
c.320A>G (p.Lys107Arg)
 gnomAD v4
7g.128398550T>GCA369169347IMPDH1c.830A>C (p.Lys277Thr)
n.813A>C
c.938A>C (p.Lys313Thr)
c.570A>C
c.908A>C (p.Lys303Thr)
c.839A>C (p.Lys280Thr)
n.527A>C
c.703A>C
c.680A>C (p.Lys227Thr)
c.668A>C (p.Lys223Thr)
c.813A>C (n.813A>C)
c.608A>C (p.Lys203Thr)
c.731A>C (p.Lys244Thr)
c.683A>C (p.Lys228Thr)
c.707A>C (p.Lys236Thr)
c.320A>C (p.Lys107Thr)
7g.128398551T>ACA369169354IMPDH1c.829A>T (p.Lys277Ter)
n.812A>T
c.937A>T (p.Lys313Ter)
c.569A>T
c.907A>T (p.Lys303Ter)
c.838A>T (p.Lys280Ter)
n.526A>T
c.702A>T
c.679A>T (p.Lys227Ter)
c.667A>T (p.Lys223Ter)
c.812A>T (n.812A>T)
c.607A>T (p.Lys203Ter)
c.730A>T (p.Lys244Ter)
c.682A>T (p.Lys228Ter)
c.706A>T (p.Lys236Ter)
c.319A>T (p.Lys107Ter)
7g.128398551T>CCA369169366IMPDH1c.829A>G (p.Lys277Glu)
n.812A>G
c.937A>G (p.Lys313Glu)
c.569A>G
c.907A>G (p.Lys303Glu)
c.838A>G (p.Lys280Glu)
n.526A>G
c.702A>G
c.679A>G (p.Lys227Glu)
c.667A>G (p.Lys223Glu)
c.812A>G (n.812A>G)
c.607A>G (p.Lys203Glu)
c.730A>G (p.Lys244Glu)
c.682A>G (p.Lys228Glu)
c.706A>G (p.Lys236Glu)
c.319A>G (p.Lys107Glu)
7g.128398551T>GCA369169356IMPDH1c.829A>C (p.Lys277Gln)
n.812A>C
c.937A>C (p.Lys313Gln)
c.569A>C
c.907A>C (p.Lys303Gln)
c.838A>C (p.Lys280Gln)
n.526A>C
c.702A>C
c.679A>C (p.Lys227Gln)
c.667A>C (p.Lys223Gln)
c.812A>C (n.812A>C)
c.607A>C (p.Lys203Gln)
c.730A>C (p.Lys244Gln)
c.682A>C (p.Lys228Gln)
c.706A>C (p.Lys236Gln)
c.319A>C (p.Lys107Gln)
7g.128398552C>ACA457528345IMPDH1c.828G>T (p.Leu276=)
n.811G>T
c.936G>T (p.Leu312=)
c.568G>T
c.906G>T (p.Leu302=)
c.837G>T (p.Leu279=)
n.525G>T
c.701G>T
c.678G>T (p.Leu226=)
c.666G>T (p.Leu222=)
c.811G>T (n.811G>T)
c.606G>T (p.Leu202=)
c.729G>T (p.Leu243=)
c.681G>T (p.Leu227=)
c.705G>T (p.Leu235=)
c.318G>T (p.Leu106=)
7g.128398552C>GCA457528347IMPDH1c.828G>C (p.Leu276=)
n.811G>C
c.936G>C (p.Leu312=)
c.568G>C
c.906G>C (p.Leu302=)
c.837G>C (p.Leu279=)
n.525G>C
c.701G>C
c.678G>C (p.Leu226=)
c.666G>C (p.Leu222=)
c.811G>C (n.811G>C)
c.606G>C (p.Leu202=)
c.729G>C (p.Leu243=)
c.681G>C (p.Leu227=)
c.705G>C (p.Leu235=)
c.318G>C (p.Leu106=)
7g.128398552C>TCA457528346IMPDH1c.828G>A (p.Leu276=)
n.811G>A
c.936G>A (p.Leu312=)
c.568G>A
c.906G>A (p.Leu302=)
c.837G>A (p.Leu279=)
n.525G>A
c.701G>A
c.678G>A (p.Leu226=)
c.666G>A (p.Leu222=)
c.811G>A (n.811G>A)
c.606G>A (p.Leu202=)
c.729G>A (p.Leu243=)
c.681G>A (p.Leu227=)
c.705G>A (p.Leu235=)
c.318G>A (p.Leu106=)
7g.128398553A>CCA369169374IMPDH1c.827T>G (p.Leu276Arg)
n.810T>G
c.935T>G (p.Leu312Arg)
c.567T>G
c.905T>G (p.Leu302Arg)
c.836T>G (p.Leu279Arg)
n.524T>G
c.700T>G
c.677T>G (p.Leu226Arg)
c.665T>G (p.Leu222Arg)
c.810T>G (n.810T>G)
c.605T>G (p.Leu202Arg)
c.728T>G (p.Leu243Arg)
c.680T>G (p.Leu227Arg)
c.704T>G (p.Leu235Arg)
c.317T>G (p.Leu106Arg)
7g.128398553A>GCA369169375IMPDH1c.827T>C (p.Leu276Pro)
n.810T>C
c.935T>C (p.Leu312Pro)
c.567T>C
c.905T>C (p.Leu302Pro)
c.836T>C (p.Leu279Pro)
n.524T>C
c.700T>C
c.677T>C (p.Leu226Pro)
c.665T>C (p.Leu222Pro)
c.810T>C (n.810T>C)
c.605T>C (p.Leu202Pro)
c.728T>C (p.Leu243Pro)
c.680T>C (p.Leu227Pro)
c.704T>C (p.Leu235Pro)
c.317T>C (p.Leu106Pro)
 ClinVar
7g.128398553A>TCA369169386IMPDH1c.827T>A (p.Leu276Gln)
n.810T>A
c.935T>A (p.Leu312Gln)
c.567T>A
c.905T>A (p.Leu302Gln)
c.836T>A (p.Leu279Gln)
n.524T>A
c.700T>A
c.677T>A (p.Leu226Gln)
c.665T>A (p.Leu222Gln)
c.810T>A (n.810T>A)
c.605T>A (p.Leu202Gln)
c.728T>A (p.Leu243Gln)
c.680T>A (p.Leu227Gln)
c.704T>A (p.Leu235Gln)
c.317T>A (p.Leu106Gln)
7g.128398554G>ACA457528349IMPDH1c.826C>T (p.Leu276=)
n.809C>T
c.934C>T (p.Leu312=)
c.566C>T
c.904C>T (p.Leu302=)
c.835C>T (p.Leu279=)
n.523C>T
c.699C>T
c.676C>T (p.Leu226=)
c.664C>T (p.Leu222=)
c.809C>T (n.809C>T)
c.604C>T (p.Leu202=)
c.727C>T (p.Leu243=)
c.679C>T (p.Leu227=)
c.703C>T (p.Leu235=)
c.316C>T (p.Leu106=)
 dbSNP
7g.128398554G>CCA369169391IMPDH1c.826C>G (p.Leu276Val)
n.809C>G
c.934C>G (p.Leu312Val)
c.566C>G
c.904C>G (p.Leu302Val)
c.835C>G (p.Leu279Val)
n.523C>G
c.699C>G
c.676C>G (p.Leu226Val)
c.664C>G (p.Leu222Val)
c.809C>G (n.809C>G)
c.604C>G (p.Leu202Val)
c.727C>G (p.Leu243Val)
c.679C>G (p.Leu227Val)
c.703C>G (p.Leu235Val)
c.316C>G (p.Leu106Val)
 gnomAD v4
7g.128398554G=CA1742328336IMPDH1c.826C= (p.Leu276=)
n.809C=
c.934C= (p.Leu312=)
c.566C=
c.904C= (p.Leu302=)
c.835C= (p.Leu279=)
n.523C=
c.699C=
c.676C= (p.Leu226=)
c.664C= (p.Leu222=)
c.809C= (n.809C=)
c.604C= (p.Leu202=)
c.727C= (p.Leu243=)
c.679C= (p.Leu227=)
c.703C= (p.Leu235=)
c.316C= (p.Leu106=)
7g.128398554G>TCA369169396IMPDH1c.826C>A (p.Leu276Met)
n.809C>A
c.934C>A (p.Leu312Met)
c.566C>A
c.904C>A (p.Leu302Met)
c.835C>A (p.Leu279Met)
n.523C>A
c.699C>A
c.676C>A (p.Leu226Met)
c.664C>A (p.Leu222Met)
c.809C>A (n.809C>A)
c.604C>A (p.Leu202Met)
c.727C>A (p.Leu243Met)
c.679C>A (p.Leu227Met)
c.703C>A (p.Leu235Met)
c.316C>A (p.Leu106Met)
7g.128398555G>ACA457528350IMPDH1c.825C>T (p.Asp275=)
n.808C>T
c.933C>T (p.Asp311=)
c.565C>T
c.903C>T (p.Asp301=)
c.834C>T (p.Asp278=)
n.522C>T
c.698C>T
c.675C>T (p.Asp225=)
c.663C>T (p.Asp221=)
c.808C>T (n.808C>T)
c.603C>T (p.Asp201=)
c.726C>T (p.Asp242=)
c.678C>T (p.Asp226=)
c.702C>T (p.Asp234=)
c.315C>T (p.Asp105=)
 dbSNP gnomAD v2 gnomAD v4
7g.128398555G>CCA369169397IMPDH1c.825C>G (p.Asp275Glu)
n.808C>G
c.933C>G (p.Asp311Glu)
c.565C>G
c.903C>G (p.Asp301Glu)
c.834C>G (p.Asp278Glu)
n.522C>G
c.698C>G
c.675C>G (p.Asp225Glu)
c.663C>G (p.Asp221Glu)
c.808C>G (n.808C>G)
c.603C>G (p.Asp201Glu)
c.726C>G (p.Asp242Glu)
c.678C>G (p.Asp226Glu)
c.702C>G (p.Asp234Glu)
c.315C>G (p.Asp105Glu)
7g.128398555G=CA1742328341IMPDH1c.825C= (p.Asp275=)
n.808C=
c.933C= (p.Asp311=)
c.565C=
c.903C= (p.Asp301=)
c.834C= (p.Asp278=)
n.522C=
c.698C=
c.675C= (p.Asp225=)
c.663C= (p.Asp221=)
c.808C= (n.808C=)
c.603C= (p.Asp201=)
c.726C= (p.Asp242=)
c.678C= (p.Asp226=)
c.702C= (p.Asp234=)
c.315C= (p.Asp105=)
7g.128398555G>TCA369169398IMPDH1c.825C>A (p.Asp275Glu)
n.808C>A
c.933C>A (p.Asp311Glu)
c.565C>A
c.903C>A (p.Asp301Glu)
c.834C>A (p.Asp278Glu)
n.522C>A
c.698C>A
c.675C>A (p.Asp225Glu)
c.663C>A (p.Asp221Glu)
c.808C>A (n.808C>A)
c.603C>A (p.Asp201Glu)
c.726C>A (p.Asp242Glu)
c.678C>A (p.Asp226Glu)
c.702C>A (p.Asp234Glu)
c.315C>A (p.Asp105Glu)
 dbSNP gnomAD v2 gnomAD v4
7g.128398556T>ACA369169402IMPDH1c.824A>T (p.Asp275Val)
n.807A>T
c.932A>T (p.Asp311Val)
c.564A>T
c.902A>T (p.Asp301Val)
c.833A>T (p.Asp278Val)
n.521A>T
c.697A>T
c.674A>T (p.Asp225Val)
c.662A>T (p.Asp221Val)
c.807A>T (n.807A>T)
c.602A>T (p.Asp201Val)
c.725A>T (p.Asp242Val)
c.677A>T (p.Asp226Val)
c.701A>T (p.Asp234Val)
c.314A>T (p.Asp105Val)
7g.128398556T>CCA369169403IMPDH1c.824A>G (p.Asp275Gly)
n.807A>G
c.932A>G (p.Asp311Gly)
c.564A>G
c.902A>G (p.Asp301Gly)
c.833A>G (p.Asp278Gly)
n.521A>G
c.697A>G
c.674A>G (p.Asp225Gly)
c.662A>G (p.Asp221Gly)
c.807A>G (n.807A>G)
c.602A>G (p.Asp201Gly)
c.725A>G (p.Asp242Gly)
c.677A>G (p.Asp226Gly)
c.701A>G (p.Asp234Gly)
c.314A>G (p.Asp105Gly)
 ClinVar dbSNP
7g.128398556T>GCA369169404IMPDH1c.824A>C (p.Asp275Ala)
n.807A>C
c.932A>C (p.Asp311Ala)
c.564A>C
c.902A>C (p.Asp301Ala)
c.833A>C (p.Asp278Ala)
n.521A>C
c.697A>C
c.674A>C (p.Asp225Ala)
c.662A>C (p.Asp221Ala)
c.807A>C (n.807A>C)
c.602A>C (p.Asp201Ala)
c.725A>C (p.Asp242Ala)
c.677A>C (p.Asp226Ala)
c.701A>C (p.Asp234Ala)
c.314A>C (p.Asp105Ala)
7g.128398556T=CA1742328345IMPDH1c.824A= (p.Asp275=)
n.807A=
c.932A= (p.Asp311=)
c.564A=
c.902A= (p.Asp301=)
c.833A= (p.Asp278=)
n.521A=
c.697A=
c.674A= (p.Asp225=)
c.662A= (p.Asp221=)
c.807A= (n.807A=)
c.602A= (p.Asp201=)
c.725A= (p.Asp242=)
c.677A= (p.Asp226=)
c.701A= (p.Asp234=)
c.314A= (p.Asp105=)
7g.128398557C>ACA369169405IMPDH1c.823G>T (p.Asp275Tyr)
n.806G>T
c.931G>T (p.Asp311Tyr)
c.563G>T
c.901G>T (p.Asp301Tyr)
c.832G>T (p.Asp278Tyr)
n.520G>T
c.696G>T
c.673G>T (p.Asp225Tyr)
c.661G>T (p.Asp221Tyr)
c.806G>T (n.806G>T)
c.601G>T (p.Asp201Tyr)
c.724G>T (p.Asp242Tyr)
c.676G>T (p.Asp226Tyr)
c.700G>T (p.Asp234Tyr)
c.313G>T (p.Asp105Tyr)
 gnomAD v4
7g.128398557C=CA1742328359IMPDH1c.823G= (p.Asp275=)
n.806G=
c.931G= (p.Asp311=)
c.563G=
c.901G= (p.Asp301=)
c.832G= (p.Asp278=)
n.520G=
c.696G=
c.673G= (p.Asp225=)
c.661G= (p.Asp221=)
c.806G= (n.806G=)
c.601G= (p.Asp201=)
c.724G= (p.Asp242=)
c.676G= (p.Asp226=)
c.700G= (p.Asp234=)
c.313G= (p.Asp105=)
7g.128398557C>GCA369169408IMPDH1c.823G>C (p.Asp275His)
n.806G>C
c.931G>C (p.Asp311His)
c.563G>C
c.901G>C (p.Asp301His)
c.832G>C (p.Asp278His)
n.520G>C
c.696G>C
c.673G>C (p.Asp225His)
c.661G>C (p.Asp221His)
c.806G>C (n.806G>C)
c.601G>C (p.Asp201His)
c.724G>C (p.Asp242His)
c.676G>C (p.Asp226His)
c.700G>C (p.Asp234His)
c.313G>C (p.Asp105His)
7g.128398557C>TCA257369IMPDH1c.823G>A (p.Asp275Asn)
n.806G>A
c.931G>A (p.Asp311Asn)
c.563G>A
c.901G>A (p.Asp301Asn)
c.832G>A (p.Asp278Asn)
n.520G>A
c.696G>A
c.673G>A (p.Asp225Asn)
c.661G>A (p.Asp221Asn)
c.806G>A (n.806G>A)
c.601G>A (p.Asp201Asn)
c.724G>A (p.Asp242Asn)
c.676G>A (p.Asp226Asn)
c.700G>A (p.Asp234Asn)
c.313G>A (p.Asp105Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched