| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128398457C>A | CA369168205 | IMPDH1 | c.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) | |
| 7 | g.128398457C= | CA1742366523 | IMPDH1 | c.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=) | |
| 7 | g.128398457C>G | CA369168209 | IMPDH1 | c.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) | |
| 7 | g.128398457C>T | CA369168218 | IMPDH1 | c.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 |
| 7 | g.128398458G>A | CA4470976 | IMPDH1 | c.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 |
| 7 | g.128398458G>C | CA369168245 | IMPDH1 | c.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) | |
| 7 | g.128398458G= | CA1742366530 | IMPDH1 | c.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=) | |
| 7 | g.128398458G>T | CA369168246 | IMPDH1 | c.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) | |
| 7 | g.128398459G>A | CA457528212 | IMPDH1 | c.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 |
| 7 | g.128398459G>C | CA369168250 | IMPDH1 | c.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) | |
| 7 | g.128398459G>T | CA369168261 | IMPDH1 | c.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) | |
| 7 | g.128398460T>A | CA369168277 | IMPDH1 | c.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) | |
| 7 | g.128398460T>C | CA369168278 | IMPDH1 | c.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 |
| 7 | g.128398460T>G | CA369168266 | IMPDH1 | c.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) | |
| 7 | g.128398461A= | CA1742366539 | IMPDH1 | c.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=) | |
| 7 | g.128398461A>C | CA369168299 | IMPDH1 | c.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) | |
| 7 | g.128398461A>G | CA369168280 | IMPDH1 | c.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 |
| 7 | g.128398461A>T | CA369168284 | IMPDH1 | c.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) | |
| 7 | g.128398462T>A | CA369168308 | IMPDH1 | c.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) | |
| 7 | g.128398462T>C | CA457528217 | IMPDH1 | c.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=) | |
| 7 | g.128398462T>G | CA369168315 | IMPDH1 | c.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) | |
| 7 | g.128398463T>A | CA369168325 | IMPDH1 | c.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) | |
| 7 | g.128398463T>C | CA369168327 | IMPDH1 | c.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 |
| 7 | g.128398463T>G | CA369168330 | IMPDH1 | c.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) | |
| 7 | g.128398464T>A | CA369168334 | IMPDH1 | c.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) | |
| 7 | g.128398464T>C | CA369168345 | IMPDH1 | c.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 |
| 7 | g.128398464T>G | CA369168355 | IMPDH1 | c.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) | |
| 7 | g.128398465G>A | CA457528219 | IMPDH1 | c.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=) | |
| 7 | g.128398465G>C | CA369168369 | IMPDH1 | c.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) | |
| 7 | g.128398465G>T | CA369168375 | IMPDH1 | c.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) | |
| 7 | g.128398466T>A | CA369168391 | IMPDH1 | c.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) | |
| 7 | g.128398466T>C | CA369168390 | IMPDH1 | c.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 |
| 7 | g.128398466T>G | CA369168381 | IMPDH1 | c.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) | |
| 7 | g.128398467C>A | CA369168400 | IMPDH1 | c.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 |
| 7 | g.128398467C>G | CA369168404 | IMPDH1 | c.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) | |
| 7 | g.128398467C>T | CA369168412 | IMPDH1 | c.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 |
| 7 | g.128398468A= | CA1742366550 | IMPDH1 | c.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=) | |
| 7 | g.128398468A>C | CA369168414 | IMPDH1 | c.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) | |
| 7 | g.128398468A>G | CA457528223 | IMPDH1 | c.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 |
| 7 | g.128398468A>T | CA369168415 | IMPDH1 | c.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) | |
| 7 | g.128398469T>A | CA369168417 | IMPDH1 | c.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) | |
| 7 | g.128398469T>C | CA369168419 | IMPDH1 | c.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) | |
| 7 | g.128398469T>G | CA369168421 | IMPDH1 | c.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) | |
| 7 | g.128398470C>A | CA369168422 | IMPDH1 | c.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) | |
| 7 | g.128398470C= | CA1742366553 | IMPDH1 | c.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=) | |
| 7 | g.128398470C>G | CA369168426 | IMPDH1 | c.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) | |
| 7 | g.128398470C>T | CA369168431 | IMPDH1 | c.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 |
| 7 | g.128398471C>A | CA369168435 | IMPDH1 | c.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) | |
| 7 | g.128398471C= | CA1742366556 | IMPDH1 | c.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=) | |
| 7 | g.128398471C>G | CA369168437 | IMPDH1 | c.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) |