| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.37490236_37490239delinsCTAC | CA2388495738 | DYRK1A | c.726_729delinsCTAC (p.Ser242=) c.612_615delinsCTAC (p.Ser204=) c.699_702delinsCTAC (p.Ser233=) n.529_532delinsCTAC n.90_93delinsCTAC c.747_750delinsCTAC (p.Ser249=) n.141_144delinsCTAC c.639_642delinsCTAC (p.Ser213=) c.42_45delinsCTAC (p.Ser14=) c.720_723delinsCTAC (p.Ser240=) | |
| 21 | g.37490237_37490239delinsATAGAGGTTGT | CA10588710 | DYRK1A | c.727_729delinsATAGAGGTTGT (p.Tyr243IlefsTer10) c.613_615delinsATAGAGGTTGT (p.Tyr205IlefsTer10) c.700_702delinsATAGAGGTTGT (p.Tyr234IlefsTer10) n.530_532delinsATAGAGGTTGT n.91_93delinsATAGAGGTTGT c.748_750delinsATAGAGGTTGT (p.Tyr250IlefsTer10) n.142_144delinsATAGAGGTTGT c.640_642delinsATAGAGGTTGT (p.Tyr214IlefsTer10) c.43_45delinsATAGAGGTTGT (p.Tyr15IlefsTer10) c.721_723delinsATAGAGGTTGT (p.Tyr241IlefsTer10) | ClinVar dbSNP |
| 21 | g.37490239C>A | CA409947373 | DYRK1A | c.729C>A (p.Tyr243Ter) c.615C>A (p.Tyr205Ter) c.702C>A (p.Tyr234Ter) n.532C>A n.93C>A c.750C>A (p.Tyr250Ter) n.144C>A c.642C>A (p.Tyr214Ter) c.45C>A (p.Tyr15Ter) c.723C>A (p.Tyr241Ter) | |
| 21 | g.37490239C= | CA2388495741 | DYRK1A | c.729C= (p.Tyr243=) c.615C= (p.Tyr205=) c.702C= (p.Tyr234=) n.532C= n.93C= c.750C= (p.Tyr250=) n.144C= c.642C= (p.Tyr214=) c.45C= (p.Tyr15=) c.723C= (p.Tyr241=) | |
| 21 | g.37490239C>G | CA409947375 | DYRK1A | c.729C>G (p.Tyr243Ter) c.615C>G (p.Tyr205Ter) c.702C>G (p.Tyr234Ter) n.532C>G n.93C>G c.750C>G (p.Tyr250Ter) n.144C>G c.642C>G (p.Tyr214Ter) c.45C>G (p.Tyr15Ter) c.723C>G (p.Tyr241Ter) | |
| 21 | g.37490239C>T | CA320483406 | DYRK1A | c.729C>T (p.Tyr243=) c.615C>T (p.Tyr205=) c.702C>T (p.Tyr234=) n.532C>T n.93C>T c.750C>T (p.Tyr250=) n.144C>T c.642C>T (p.Tyr214=) c.45C>T (p.Tyr15=) c.723C>T (p.Tyr241=) | dbSNP gnomAD v4 |
| 21 | g.37490240A>C | CA409947381 | DYRK1A | c.730A>C (p.Asn244His) c.616A>C (p.Asn206His) c.703A>C (p.Asn235His) n.533A>C n.94A>C c.751A>C (p.Asn251His) n.145A>C c.643A>C (p.Asn215His) c.46A>C (p.Asn16His) c.724A>C (p.Asn242His) | |
| 21 | g.37490240A>G | CA409947379 | DYRK1A | c.730A>G (p.Asn244Asp) c.616A>G (p.Asn206Asp) c.703A>G (p.Asn235Asp) n.533A>G n.94A>G c.751A>G (p.Asn251Asp) n.145A>G c.643A>G (p.Asn215Asp) c.46A>G (p.Asn16Asp) c.724A>G (p.Asn242Asp) | |
| 21 | g.37490240A>T | CA409947377 | DYRK1A | c.730A>T (p.Asn244Tyr) c.616A>T (p.Asn206Tyr) c.703A>T (p.Asn235Tyr) n.533A>T n.94A>T c.751A>T (p.Asn251Tyr) n.145A>T c.643A>T (p.Asn215Tyr) c.46A>T (p.Asn16Tyr) c.724A>T (p.Asn242Tyr) | |
| 21 | g.37490241A>C | CA409947383 | DYRK1A | c.731A>C (p.Asn244Thr) c.617A>C (p.Asn206Thr) c.704A>C (p.Asn235Thr) n.534A>C n.95A>C c.752A>C (p.Asn251Thr) n.146A>C c.644A>C (p.Asn215Thr) c.47A>C (p.Asn16Thr) c.725A>C (p.Asn242Thr) | |
| 21 | g.37490241A>G | CA409947385 | DYRK1A | c.731A>G (p.Asn244Ser) c.617A>G (p.Asn206Ser) c.704A>G (p.Asn235Ser) n.534A>G n.95A>G c.752A>G (p.Asn251Ser) n.146A>G c.644A>G (p.Asn215Ser) c.47A>G (p.Asn16Ser) c.725A>G (p.Asn242Ser) | |
| 21 | g.37490241A>T | CA409947387 | DYRK1A | c.731A>T (p.Asn244Ile) c.617A>T (p.Asn206Ile) c.704A>T (p.Asn235Ile) n.534A>T n.95A>T c.752A>T (p.Asn251Ile) n.146A>T c.644A>T (p.Asn215Ile) c.47A>T (p.Asn16Ile) c.725A>T (p.Asn242Ile) | |
| 21 | g.37490242C>A | CA409947388 | DYRK1A | c.732C>A (p.Asn244Lys) c.618C>A (p.Asn206Lys) c.705C>A (p.Asn235Lys) n.535C>A n.96C>A c.753C>A (p.Asn251Lys) n.147C>A c.645C>A (p.Asn215Lys) c.48C>A (p.Asn16Lys) c.726C>A (p.Asn242Lys) | |
| 21 | g.37490242C= | CA2388495742 | DYRK1A | c.732C= (p.Asn244=) c.618C= (p.Asn206=) c.705C= (p.Asn235=) n.535C= n.96C= c.753C= (p.Asn251=) n.147C= c.645C= (p.Asn215=) c.48C= (p.Asn16=) c.726C= (p.Asn242=) | |
| 21 | g.37490242C>G | CA409947389 | DYRK1A | c.732C>G (p.Asn244Lys) c.618C>G (p.Asn206Lys) c.705C>G (p.Asn235Lys) n.535C>G n.96C>G c.753C>G (p.Asn251Lys) n.147C>G c.645C>G (p.Asn215Lys) c.48C>G (p.Asn16Lys) c.726C>G (p.Asn242Lys) | COSMIC COSMIC |
| 21 | g.37490242C>T | CA320483408 | DYRK1A | c.732C>T (p.Asn244=) c.618C>T (p.Asn206=) c.705C>T (p.Asn235=) n.535C>T n.96C>T c.753C>T (p.Asn251=) n.147C>T c.645C>T (p.Asn215=) c.48C>T (p.Asn16=) c.726C>T (p.Asn242=) | dbSNP |
| 21 | g.37490243C>A | CA409947393 | DYRK1A | c.733C>A (p.Leu245Ile) c.619C>A (p.Leu207Ile) c.706C>A (p.Leu236Ile) n.536C>A n.97C>A c.754C>A (p.Leu252Ile) n.148C>A c.646C>A (p.Leu216Ile) c.49C>A (p.Leu17Ile) c.727C>A (p.Leu243Ile) | |
| 21 | g.37490243C>G | CA409947395 | DYRK1A | c.733C>G (p.Leu245Val) c.619C>G (p.Leu207Val) c.706C>G (p.Leu236Val) n.536C>G n.97C>G c.754C>G (p.Leu252Val) n.148C>G c.646C>G (p.Leu216Val) c.49C>G (p.Leu17Val) c.727C>G (p.Leu243Val) | |
| 21 | g.37490243C>T | CA409947396 | DYRK1A | c.733C>T (p.Leu245Phe) c.619C>T (p.Leu207Phe) c.706C>T (p.Leu236Phe) n.536C>T n.97C>T c.754C>T (p.Leu252Phe) n.148C>T c.646C>T (p.Leu216Phe) c.49C>T (p.Leu17Phe) c.727C>T (p.Leu243Phe) | |
| 21 | g.37490244T>A | CA409947398 | DYRK1A | c.734T>A (p.Leu245His) c.620T>A (p.Leu207His) c.707T>A (p.Leu236His) n.537T>A n.98T>A c.755T>A (p.Leu252His) n.149T>A c.647T>A (p.Leu216His) c.50T>A (p.Leu17His) c.728T>A (p.Leu243His) | |
| 21 | g.37490244T>C | CA409947400 | DYRK1A | c.734T>C (p.Leu245Pro) c.620T>C (p.Leu207Pro) c.707T>C (p.Leu236Pro) n.537T>C n.98T>C c.755T>C (p.Leu252Pro) n.149T>C c.647T>C (p.Leu216Pro) c.50T>C (p.Leu17Pro) c.728T>C (p.Leu243Pro) | ClinVar |
| 21 | g.37490244T>G | CA278533 | DYRK1A | c.734T>G (p.Leu245Arg) c.620T>G (p.Leu207Arg) c.707T>G (p.Leu236Arg) n.537T>G n.98T>G c.755T>G (p.Leu252Arg) n.149T>G c.647T>G (p.Leu216Arg) c.50T>G (p.Leu17Arg) c.728T>G (p.Leu243Arg) | ClinVar dbSNP |
| 21 | g.37490244T= | CA2388495743 | DYRK1A | c.734T= (p.Leu245=) c.620T= (p.Leu207=) c.707T= (p.Leu236=) n.537T= n.98T= c.755T= (p.Leu252=) n.149T= c.647T= (p.Leu216=) c.50T= (p.Leu17=) c.728T= (p.Leu243=) | |
| 21 | g.37490245C>A | CA512327736 | DYRK1A | c.735C>A (p.Leu245=) c.621C>A (p.Leu207=) c.708C>A (p.Leu236=) n.538C>A n.99C>A c.756C>A (p.Leu252=) n.150C>A c.648C>A (p.Leu216=) c.51C>A (p.Leu17=) c.729C>A (p.Leu243=) | |
| 21 | g.37490245C= | CA2388495744 | DYRK1A | c.735C= (p.Leu245=) c.621C= (p.Leu207=) c.708C= (p.Leu236=) n.538C= n.99C= c.756C= (p.Leu252=) n.150C= c.648C= (p.Leu216=) c.51C= (p.Leu17=) c.729C= (p.Leu243=) | |
| 21 | g.37490245C>G | CA320483414 | DYRK1A | c.735C>G (p.Leu245=) c.621C>G (p.Leu207=) c.708C>G (p.Leu236=) n.538C>G n.99C>G c.756C>G (p.Leu252=) n.150C>G c.648C>G (p.Leu216=) c.51C>G (p.Leu17=) c.729C>G (p.Leu243=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.37490245C>T | CA512327737 | DYRK1A | c.735C>T (p.Leu245=) c.621C>T (p.Leu207=) c.708C>T (p.Leu236=) n.538C>T n.99C>T c.756C>T (p.Leu252=) n.150C>T c.648C>T (p.Leu216=) c.51C>T (p.Leu17=) c.729C>T (p.Leu243=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37490246T>A | CA409947405 | DYRK1A | c.736T>A (p.Tyr246Asn) c.622T>A (p.Tyr208Asn) c.709T>A (p.Tyr237Asn) n.539T>A n.100T>A c.757T>A (p.Tyr253Asn) n.151T>A c.649T>A (p.Tyr217Asn) c.52T>A (p.Tyr18Asn) c.730T>A (p.Tyr244Asn) | |
| 21 | g.37490246T>C | CA409947407 | DYRK1A | c.736T>C (p.Tyr246His) c.622T>C (p.Tyr208His) c.709T>C (p.Tyr237His) n.539T>C n.100T>C c.757T>C (p.Tyr253His) n.151T>C c.649T>C (p.Tyr217His) c.52T>C (p.Tyr18His) c.730T>C (p.Tyr244His) | |
| 21 | g.37490246T>G | CA409947406 | DYRK1A | c.736T>G (p.Tyr246Asp) c.622T>G (p.Tyr208Asp) c.709T>G (p.Tyr237Asp) n.539T>G n.100T>G c.757T>G (p.Tyr253Asp) n.151T>G c.649T>G (p.Tyr217Asp) c.52T>G (p.Tyr18Asp) c.730T>G (p.Tyr244Asp) | |
| 21 | g.37490247_37490248del | CA2695230163 | DYRK1A | c.737_738del (p.Tyr246Ter) c.623_624del (p.Tyr208Ter) c.710_711del (p.Tyr237Ter) n.540_541del n.101_102del c.758_759del (p.Tyr253Ter) n.152_153del c.650_651del (p.Tyr217Ter) c.53_54del (p.Tyr18Ter) c.731_732del (p.Tyr244Ter) | |
| 21 | g.37490247A>C | CA409947409 | DYRK1A | c.737A>C (p.Tyr246Ser) c.623A>C (p.Tyr208Ser) c.710A>C (p.Tyr237Ser) n.540A>C n.101A>C c.758A>C (p.Tyr253Ser) n.152A>C c.650A>C (p.Tyr217Ser) c.53A>C (p.Tyr18Ser) c.731A>C (p.Tyr244Ser) | |
| 21 | g.37490247A>G | CA409947411 | DYRK1A | c.737A>G (p.Tyr246Cys) c.623A>G (p.Tyr208Cys) c.710A>G (p.Tyr237Cys) n.540A>G n.101A>G c.758A>G (p.Tyr253Cys) n.152A>G c.650A>G (p.Tyr217Cys) c.53A>G (p.Tyr18Cys) c.731A>G (p.Tyr244Cys) | |
| 21 | g.37490247A>T | CA409947413 | DYRK1A | c.737A>T (p.Tyr246Phe) c.623A>T (p.Tyr208Phe) c.710A>T (p.Tyr237Phe) n.540A>T n.101A>T c.758A>T (p.Tyr253Phe) n.152A>T c.650A>T (p.Tyr217Phe) c.53A>T (p.Tyr18Phe) c.731A>T (p.Tyr244Phe) | |
| 21 | g.37490248T>A | CA409947415 | DYRK1A | c.738T>A (p.Tyr246Ter) c.624T>A (p.Tyr208Ter) c.711T>A (p.Tyr237Ter) n.541T>A n.102T>A c.759T>A (p.Tyr253Ter) n.153T>A c.651T>A (p.Tyr217Ter) c.54T>A (p.Tyr18Ter) c.732T>A (p.Tyr244Ter) | |
| 21 | g.37490248T>C | CA512327738 | DYRK1A | c.738T>C (p.Tyr246=) c.624T>C (p.Tyr208=) c.711T>C (p.Tyr237=) n.541T>C n.102T>C c.759T>C (p.Tyr253=) n.153T>C c.651T>C (p.Tyr217=) c.54T>C (p.Tyr18=) c.732T>C (p.Tyr244=) | |
| 21 | g.37490248T>G | CA409947417 | DYRK1A | c.738T>G (p.Tyr246Ter) c.624T>G (p.Tyr208Ter) c.711T>G (p.Tyr237Ter) n.541T>G n.102T>G c.759T>G (p.Tyr253Ter) n.153T>G c.651T>G (p.Tyr217Ter) c.54T>G (p.Tyr18Ter) c.732T>G (p.Tyr244Ter) | |
| 21 | g.37490249G>A | CA409947419 | DYRK1A | c.739G>A (p.Asp247Asn) c.625G>A (p.Asp209Asn) c.712G>A (p.Asp238Asn) n.542G>A n.103G>A c.760G>A (p.Asp254Asn) n.154G>A c.652G>A (p.Asp218Asn) c.55G>A (p.Asp19Asn) c.733G>A (p.Asp245Asn) | |
| 21 | g.37490249G>C | CA409947420 | DYRK1A | c.739G>C (p.Asp247His) c.625G>C (p.Asp209His) c.712G>C (p.Asp238His) n.542G>C n.103G>C c.760G>C (p.Asp254His) n.154G>C c.652G>C (p.Asp218His) c.55G>C (p.Asp19His) c.733G>C (p.Asp245His) | COSMIC |
| 21 | g.37490249G>T | CA409947422 | DYRK1A | c.739G>T (p.Asp247Tyr) c.625G>T (p.Asp209Tyr) c.712G>T (p.Asp238Tyr) n.542G>T n.103G>T c.760G>T (p.Asp254Tyr) n.154G>T c.652G>T (p.Asp218Tyr) c.55G>T (p.Asp19Tyr) c.733G>T (p.Asp245Tyr) | |
| 21 | g.37490250A>C | CA409947424 | DYRK1A | c.740A>C (p.Asp247Ala) c.626A>C (p.Asp209Ala) c.713A>C (p.Asp238Ala) n.543A>C n.104A>C c.761A>C (p.Asp254Ala) n.155A>C c.653A>C (p.Asp218Ala) c.56A>C (p.Asp19Ala) c.734A>C (p.Asp245Ala) | |
| 21 | g.37490250A>G | CA409947425 | DYRK1A | c.740A>G (p.Asp247Gly) c.626A>G (p.Asp209Gly) c.713A>G (p.Asp238Gly) n.543A>G n.104A>G c.761A>G (p.Asp254Gly) n.155A>G c.653A>G (p.Asp218Gly) c.56A>G (p.Asp19Gly) c.734A>G (p.Asp245Gly) | gnomAD v4 |
| 21 | g.37490250A>T | CA409947427 | DYRK1A | c.740A>T (p.Asp247Val) c.626A>T (p.Asp209Val) c.713A>T (p.Asp238Val) n.543A>T n.104A>T c.761A>T (p.Asp254Val) n.155A>T c.653A>T (p.Asp218Val) c.56A>T (p.Asp19Val) c.734A>T (p.Asp245Val) | |
| 21 | g.37490251C>A | CA409947432 | DYRK1A | c.741C>A (p.Asp247Glu) c.627C>A (p.Asp209Glu) c.714C>A (p.Asp238Glu) n.544C>A n.105C>A c.762C>A (p.Asp254Glu) n.156C>A c.654C>A (p.Asp218Glu) c.57C>A (p.Asp19Glu) c.735C>A (p.Asp245Glu) | |
| 21 | g.37490251C= | CA2388495745 | DYRK1A | c.741C= (p.Asp247=) c.627C= (p.Asp209=) c.714C= (p.Asp238=) n.544C= n.105C= c.762C= (p.Asp254=) n.156C= c.654C= (p.Asp218=) c.57C= (p.Asp19=) c.735C= (p.Asp245=) | |
| 21 | g.37490251C>G | CA409947430 | DYRK1A | c.741C>G (p.Asp247Glu) c.627C>G (p.Asp209Glu) c.714C>G (p.Asp238Glu) n.544C>G n.105C>G c.762C>G (p.Asp254Glu) n.156C>G c.654C>G (p.Asp218Glu) c.57C>G (p.Asp19Glu) c.735C>G (p.Asp245Glu) | |
| 21 | g.37490251C>T | CA320483417 | DYRK1A | c.741C>T (p.Asp247=) c.627C>T (p.Asp209=) c.714C>T (p.Asp238=) n.544C>T n.105C>T c.762C>T (p.Asp254=) n.156C>T c.654C>T (p.Asp218=) c.57C>T (p.Asp19=) c.735C>T (p.Asp245=) | dbSNP gnomAD v4 |
| 21 | g.37490252T>A | CA409947436 | DYRK1A | c.742T>A (p.Leu248Met) c.628T>A (p.Leu210Met) c.715T>A (p.Leu239Met) n.545T>A n.106T>A c.763T>A (p.Leu255Met) n.157T>A c.655T>A (p.Leu219Met) c.58T>A (p.Leu20Met) c.736T>A (p.Leu246Met) | |
| 21 | g.37490252T>C | CA320483418 | DYRK1A | c.742T>C (p.Leu248=) c.628T>C (p.Leu210=) c.715T>C (p.Leu239=) n.545T>C n.106T>C c.763T>C (p.Leu255=) n.157T>C c.655T>C (p.Leu219=) c.58T>C (p.Leu20=) c.736T>C (p.Leu246=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37490252T>G | CA409947434 | DYRK1A | c.742T>G (p.Leu248Val) c.628T>G (p.Leu210Val) c.715T>G (p.Leu239Val) n.545T>G n.106T>G c.763T>G (p.Leu255Val) n.157T>G c.655T>G (p.Leu219Val) c.58T>G (p.Leu20Val) c.736T>G (p.Leu246Val) |