Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.37490322C>A | CA409947615 | DYRK1A | c.812C>A (p.Thr271Asn) c.698C>A (p.Thr233Asn) c.785C>A (p.Thr262Asn) n.615C>A n.176C>A c.833C>A (p.Thr278Asn) n.227C>A c.725C>A (p.Thr242Asn) c.128C>A (p.Thr43Asn) c.806C>A (p.Thr269Asn) | |
21 | g.37490322C>G | CA409947616 | DYRK1A | c.812C>G (p.Thr271Ser) c.698C>G (p.Thr233Ser) c.785C>G (p.Thr262Ser) n.615C>G n.176C>G c.833C>G (p.Thr278Ser) n.227C>G c.725C>G (p.Thr242Ser) c.128C>G (p.Thr43Ser) c.806C>G (p.Thr269Ser) | ClinVar |
21 | g.37490322C>T | CA409947617 | DYRK1A | c.812C>T (p.Thr271Ile) c.698C>T (p.Thr233Ile) c.785C>T (p.Thr262Ile) n.615C>T n.176C>T c.833C>T (p.Thr278Ile) n.227C>T c.725C>T (p.Thr242Ile) c.128C>T (p.Thr43Ile) c.806C>T (p.Thr269Ile) | |
21 | g.37490323T>A | CA320483476 | DYRK1A | c.813T>A (p.Thr271=) c.699T>A (p.Thr233=) c.786T>A (p.Thr262=) n.616T>A n.177T>A c.834T>A (p.Thr278=) n.228T>A c.726T>A (p.Thr242=) c.129T>A (p.Thr43=) c.807T>A (p.Thr269=) | dbSNP |
21 | g.37490323T>C | CA512327779 | DYRK1A | c.813T>C (p.Thr271=) c.699T>C (p.Thr233=) c.786T>C (p.Thr262=) n.616T>C n.177T>C c.834T>C (p.Thr278=) n.228T>C c.726T>C (p.Thr242=) c.129T>C (p.Thr43=) c.807T>C (p.Thr269=) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.37490323T>G | CA512327780 | DYRK1A | c.813T>G (p.Thr271=) c.699T>G (p.Thr233=) c.786T>G (p.Thr262=) n.616T>G n.177T>G c.834T>G (p.Thr278=) n.228T>G c.726T>G (p.Thr242=) c.129T>G (p.Thr43=) c.807T>G (p.Thr269=) | |
21 | g.37490323T= | CA2388495775 | DYRK1A | c.813T= (p.Thr271=) c.699T= (p.Thr233=) c.786T= (p.Thr262=) n.616T= n.177T= c.834T= (p.Thr278=) n.228T= c.726T= (p.Thr242=) c.129T= (p.Thr43=) c.807T= (p.Thr269=) | |
21 | g.37490324G>A | CA409947618 | DYRK1A | c.814G>A (p.Ala272Thr) c.700G>A (p.Ala234Thr) c.787G>A (p.Ala263Thr) n.617G>A n.178G>A c.835G>A (p.Ala279Thr) n.229G>A c.727G>A (p.Ala243Thr) c.130G>A (p.Ala44Thr) c.808G>A (p.Ala270Thr) | |
21 | g.37490324G>C | CA409947619 | DYRK1A | c.814G>C (p.Ala272Pro) c.700G>C (p.Ala234Pro) c.787G>C (p.Ala263Pro) n.617G>C n.178G>C c.835G>C (p.Ala279Pro) n.229G>C c.727G>C (p.Ala243Pro) c.130G>C (p.Ala44Pro) c.808G>C (p.Ala270Pro) | |
21 | g.37490324G= | CA2388495776 | DYRK1A | c.814G= (p.Ala272=) c.700G= (p.Ala234=) c.787G= (p.Ala263=) n.617G= n.178G= c.835G= (p.Ala279=) n.229G= c.727G= (p.Ala243=) c.130G= (p.Ala44=) c.808G= (p.Ala270=) | |
21 | g.37490324G>T | CA409947620 | DYRK1A | c.814G>T (p.Ala272Ser) c.700G>T (p.Ala234Ser) c.787G>T (p.Ala263Ser) n.617G>T n.178G>T c.835G>T (p.Ala279Ser) n.229G>T c.727G>T (p.Ala243Ser) c.130G>T (p.Ala44Ser) c.808G>T (p.Ala270Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37490325C>A | CA409947621 | DYRK1A | c.815C>A (p.Ala272Glu) c.701C>A (p.Ala234Glu) c.788C>A (p.Ala263Glu) n.618C>A n.179C>A c.836C>A (p.Ala279Glu) n.230C>A c.728C>A (p.Ala243Glu) c.131C>A (p.Ala44Glu) c.809C>A (p.Ala270Glu) | |
21 | g.37490325C>G | CA409947622 | DYRK1A | c.815C>G (p.Ala272Gly) c.701C>G (p.Ala234Gly) c.788C>G (p.Ala263Gly) n.618C>G n.179C>G c.836C>G (p.Ala279Gly) n.230C>G c.728C>G (p.Ala243Gly) c.131C>G (p.Ala44Gly) c.809C>G (p.Ala270Gly) | |
21 | g.37490325C>T | CA409947623 | DYRK1A | c.815C>T (p.Ala272Val) c.701C>T (p.Ala234Val) c.788C>T (p.Ala263Val) n.618C>T n.179C>T c.836C>T (p.Ala279Val) n.230C>T c.728C>T (p.Ala243Val) c.131C>T (p.Ala44Val) c.809C>T (p.Ala270Val) | gnomAD v4 |
21 | g.37490326A= | CA2388495777 | DYRK1A | c.816A= (p.Ala272=) c.702A= (p.Ala234=) c.789A= (p.Ala263=) n.619A= n.180A= c.837A= (p.Ala279=) n.231A= c.729A= (p.Ala243=) c.132A= (p.Ala44=) c.810A= (p.Ala270=) | |
21 | g.37490326A>C | CA512327781 | DYRK1A | c.816A>C (p.Ala272=) c.702A>C (p.Ala234=) c.789A>C (p.Ala263=) n.619A>C n.180A>C c.837A>C (p.Ala279=) n.231A>C c.729A>C (p.Ala243=) c.132A>C (p.Ala44=) c.810A>C (p.Ala270=) | |
21 | g.37490326A>G | CA512327782 | DYRK1A | c.816A>G (p.Ala272=) c.702A>G (p.Ala234=) c.789A>G (p.Ala263=) n.619A>G n.180A>G c.837A>G (p.Ala279=) n.231A>G c.729A>G (p.Ala243=) c.132A>G (p.Ala44=) c.810A>G (p.Ala270=) | ClinVar dbSNP gnomAD v4 |
21 | g.37490326A>T | CA10023854 | DYRK1A | c.816A>T (p.Ala272=) c.702A>T (p.Ala234=) c.789A>T (p.Ala263=) n.619A>T n.180A>T c.837A>T (p.Ala279=) n.231A>T c.729A>T (p.Ala243=) c.132A>T (p.Ala44=) c.810A>T (p.Ala270=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37490327C>A | CA409947624 | DYRK1A | c.817C>A (p.Leu273Met) c.703C>A (p.Leu235Met) c.790C>A (p.Leu264Met) n.620C>A n.181C>A c.838C>A (p.Leu280Met) n.232C>A c.730C>A (p.Leu244Met) c.133C>A (p.Leu45Met) c.811C>A (p.Leu271Met) | |
21 | g.37490327C= | CA2388495778 | DYRK1A | c.817C= (p.Leu273=) c.703C= (p.Leu235=) c.790C= (p.Leu264=) n.620C= n.181C= c.838C= (p.Leu280=) n.232C= c.730C= (p.Leu244=) c.133C= (p.Leu45=) c.811C= (p.Leu271=) | |
21 | g.37490327C>G | CA409947625 | DYRK1A | c.817C>G (p.Leu273Val) c.703C>G (p.Leu235Val) c.790C>G (p.Leu264Val) n.620C>G n.181C>G c.838C>G (p.Leu280Val) n.232C>G c.730C>G (p.Leu244Val) c.133C>G (p.Leu45Val) c.811C>G (p.Leu271Val) | |
21 | g.37490327C>T | CA320483494 | DYRK1A | c.817C>T (p.Leu273=) c.703C>T (p.Leu235=) c.790C>T (p.Leu264=) n.620C>T n.181C>T c.838C>T (p.Leu280=) n.232C>T c.730C>T (p.Leu244=) c.133C>T (p.Leu45=) c.811C>T (p.Leu271=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37490328T>A | CA409947626 | DYRK1A | c.818T>A (p.Leu273Gln) c.704T>A (p.Leu235Gln) c.791T>A (p.Leu264Gln) n.621T>A n.182T>A c.839T>A (p.Leu280Gln) n.233T>A c.731T>A (p.Leu244Gln) c.134T>A (p.Leu45Gln) c.812T>A (p.Leu271Gln) | |
21 | g.37490328T>C | CA409947627 | DYRK1A | c.818T>C (p.Leu273Pro) c.704T>C (p.Leu235Pro) c.791T>C (p.Leu264Pro) n.621T>C n.182T>C c.839T>C (p.Leu280Pro) n.233T>C c.731T>C (p.Leu244Pro) c.134T>C (p.Leu45Pro) c.812T>C (p.Leu271Pro) | |
21 | g.37490328T>G | CA409947628 | DYRK1A | c.818T>G (p.Leu273Arg) c.704T>G (p.Leu235Arg) c.791T>G (p.Leu264Arg) n.621T>G n.182T>G c.839T>G (p.Leu280Arg) n.233T>G c.731T>G (p.Leu244Arg) c.134T>G (p.Leu45Arg) c.812T>G (p.Leu271Arg) | |
21 | g.37490329G>A | CA512327783 | DYRK1A | c.819G>A (p.Leu273=) c.705G>A (p.Leu235=) c.792G>A (p.Leu264=) n.622G>A n.183G>A c.840G>A (p.Leu280=) n.234G>A c.732G>A (p.Leu244=) c.135G>A (p.Leu45=) c.813G>A (p.Leu271=) | |
21 | g.37490329G>C | CA512327784 | DYRK1A | c.819G>C (p.Leu273=) c.705G>C (p.Leu235=) c.792G>C (p.Leu264=) n.622G>C n.183G>C c.840G>C (p.Leu280=) n.234G>C c.732G>C (p.Leu244=) c.135G>C (p.Leu45=) c.813G>C (p.Leu271=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.37490329G= | CA2388495779 | DYRK1A | c.819G= (p.Leu273=) c.705G= (p.Leu235=) c.792G= (p.Leu264=) n.622G= n.183G= c.840G= (p.Leu280=) n.234G= c.732G= (p.Leu244=) c.135G= (p.Leu45=) c.813G= (p.Leu271=) | |
21 | g.37490329G>T | CA512327785 | DYRK1A | c.819G>T (p.Leu273=) c.705G>T (p.Leu235=) c.792G>T (p.Leu264=) n.622G>T n.183G>T c.840G>T (p.Leu280=) n.234G>T c.732G>T (p.Leu244=) c.135G>T (p.Leu45=) c.813G>T (p.Leu271=) | dbSNP |
21 | g.37490330C>A | CA409947631 | DYRK1A | c.820C>A (p.Leu274Ile) c.706C>A (p.Leu236Ile) c.793C>A (p.Leu265Ile) n.623C>A n.184C>A c.841C>A (p.Leu281Ile) n.235C>A c.733C>A (p.Leu245Ile) c.136C>A (p.Leu46Ile) c.814C>A (p.Leu272Ile) | |
21 | g.37490330C>G | CA409947630 | DYRK1A | c.820C>G (p.Leu274Val) c.706C>G (p.Leu236Val) c.793C>G (p.Leu265Val) n.623C>G n.184C>G c.841C>G (p.Leu281Val) n.235C>G c.733C>G (p.Leu245Val) c.136C>G (p.Leu46Val) c.814C>G (p.Leu272Val) | |
21 | g.37490330C>T | CA409947629 | DYRK1A | c.820C>T (p.Leu274Phe) c.706C>T (p.Leu236Phe) c.793C>T (p.Leu265Phe) n.623C>T n.184C>T c.841C>T (p.Leu281Phe) n.235C>T c.733C>T (p.Leu245Phe) c.136C>T (p.Leu46Phe) c.814C>T (p.Leu272Phe) | |
21 | g.37490331T>A | CA409947632 | DYRK1A | c.821T>A (p.Leu274His) c.707T>A (p.Leu236His) c.794T>A (p.Leu265His) n.624T>A n.185T>A c.842T>A (p.Leu281His) n.236T>A c.734T>A (p.Leu245His) c.137T>A (p.Leu46His) c.815T>A (p.Leu272His) | |
21 | g.37490331T>C | CA409947634 | DYRK1A | c.821T>C (p.Leu274Pro) c.707T>C (p.Leu236Pro) c.794T>C (p.Leu265Pro) n.624T>C n.185T>C c.842T>C (p.Leu281Pro) n.236T>C c.734T>C (p.Leu245Pro) c.137T>C (p.Leu46Pro) c.815T>C (p.Leu272Pro) | ClinVar |
21 | g.37490331T>G | CA409947633 | DYRK1A | c.821T>G (p.Leu274Arg) c.707T>G (p.Leu236Arg) c.794T>G (p.Leu265Arg) n.624T>G n.185T>G c.842T>G (p.Leu281Arg) n.236T>G c.734T>G (p.Leu245Arg) c.137T>G (p.Leu46Arg) c.815T>G (p.Leu272Arg) | |
21 | g.37490332T>A | CA512327804 | DYRK1A | c.822T>A (p.Leu274=) c.708T>A (p.Leu236=) c.795T>A (p.Leu265=) n.625T>A n.186T>A c.843T>A (p.Leu281=) n.237T>A c.735T>A (p.Leu245=) c.138T>A (p.Leu46=) c.816T>A (p.Leu272=) | |
21 | g.37490332T>C | CA16608545 | DYRK1A | c.822T>C (p.Leu274=) c.708T>C (p.Leu236=) c.795T>C (p.Leu265=) n.625T>C n.186T>C c.843T>C (p.Leu281=) n.237T>C c.735T>C (p.Leu245=) c.138T>C (p.Leu46=) c.816T>C (p.Leu272=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37490332T>G | CA512327805 | DYRK1A | c.822T>G (p.Leu274=) c.708T>G (p.Leu236=) c.795T>G (p.Leu265=) n.625T>G n.186T>G c.843T>G (p.Leu281=) n.237T>G c.735T>G (p.Leu245=) c.138T>G (p.Leu46=) c.816T>G (p.Leu272=) | |
21 | g.37490332T= | CA2388495780 | DYRK1A | c.822T= (p.Leu274=) c.708T= (p.Leu236=) c.795T= (p.Leu265=) n.625T= n.186T= c.843T= (p.Leu281=) n.237T= c.735T= (p.Leu245=) c.138T= (p.Leu46=) c.816T= (p.Leu272=) | |
21 | g.37490333T>A | CA409947635 | DYRK1A | c.823T>A (p.Phe275Ile) c.709T>A (p.Phe237Ile) c.796T>A (p.Phe266Ile) n.626T>A n.187T>A c.844T>A (p.Phe282Ile) n.238T>A c.736T>A (p.Phe246Ile) c.139T>A (p.Phe47Ile) c.817T>A (p.Phe273Ile) | |
21 | g.37490333T>C | CA409947637 | DYRK1A | c.823T>C (p.Phe275Leu) c.709T>C (p.Phe237Leu) c.796T>C (p.Phe266Leu) n.626T>C n.187T>C c.844T>C (p.Phe282Leu) n.238T>C c.736T>C (p.Phe246Leu) c.139T>C (p.Phe47Leu) c.817T>C (p.Phe273Leu) | |
21 | g.37490333T>G | CA409947636 | DYRK1A | c.823T>G (p.Phe275Val) c.709T>G (p.Phe237Val) c.796T>G (p.Phe266Val) n.626T>G n.187T>G c.844T>G (p.Phe282Val) n.238T>G c.736T>G (p.Phe246Val) c.139T>G (p.Phe47Val) c.817T>G (p.Phe273Val) | |
21 | g.37490334T>A | CA409947638 | DYRK1A | c.824T>A (p.Phe275Tyr) c.710T>A (p.Phe237Tyr) c.797T>A (p.Phe266Tyr) n.627T>A n.188T>A c.845T>A (p.Phe282Tyr) n.239T>A c.737T>A (p.Phe246Tyr) c.140T>A (p.Phe47Tyr) c.818T>A (p.Phe273Tyr) | |
21 | g.37490334T>C | CA409947640 | DYRK1A | c.824T>C (p.Phe275Ser) c.710T>C (p.Phe237Ser) c.797T>C (p.Phe266Ser) n.627T>C n.188T>C c.845T>C (p.Phe282Ser) n.239T>C c.737T>C (p.Phe246Ser) c.140T>C (p.Phe47Ser) c.818T>C (p.Phe273Ser) | |
21 | g.37490334T>G | CA409947639 | DYRK1A | c.824T>G (p.Phe275Cys) c.710T>G (p.Phe237Cys) c.797T>G (p.Phe266Cys) n.627T>G n.188T>G c.845T>G (p.Phe282Cys) n.239T>G c.737T>G (p.Phe246Cys) c.140T>G (p.Phe47Cys) c.818T>G (p.Phe273Cys) | |
21 | g.37490335C>A | CA409947641 | DYRK1A | c.825C>A (p.Phe275Leu) c.711C>A (p.Phe237Leu) c.798C>A (p.Phe266Leu) n.628C>A n.189C>A c.846C>A (p.Phe282Leu) n.240C>A c.738C>A (p.Phe246Leu) c.141C>A (p.Phe47Leu) c.819C>A (p.Phe273Leu) | |
21 | g.37490335C>G | CA409947642 | DYRK1A | c.825C>G (p.Phe275Leu) c.711C>G (p.Phe237Leu) c.798C>G (p.Phe266Leu) n.628C>G n.189C>G c.846C>G (p.Phe282Leu) n.240C>G c.738C>G (p.Phe246Leu) c.141C>G (p.Phe47Leu) c.819C>G (p.Phe273Leu) | |
21 | g.37490335C>T | CA512327806 | DYRK1A | c.825C>T (p.Phe275=) c.711C>T (p.Phe237=) c.798C>T (p.Phe266=) n.628C>T n.189C>T c.846C>T (p.Phe282=) n.240C>T c.738C>T (p.Phe246=) c.141C>T (p.Phe47=) c.819C>T (p.Phe273=) | |
21 | g.37490336C>A | CA409947643 | DYRK1A | c.826C>A (p.Leu276Ile) c.712C>A (p.Leu238Ile) c.799C>A (p.Leu267Ile) n.629C>A n.190C>A c.847C>A (p.Leu283Ile) n.241C>A c.739C>A (p.Leu247Ile) c.142C>A (p.Leu48Ile) c.820C>A (p.Leu274Ile) | |
21 | g.37490336C= | CA2388495781 | DYRK1A | c.826C= (p.Leu276=) c.712C= (p.Leu238=) c.799C= (p.Leu267=) n.629C= n.190C= c.847C= (p.Leu283=) n.241C= c.739C= (p.Leu247=) c.142C= (p.Leu48=) c.820C= (p.Leu274=) | |
21 | g.37490336C>G | CA409947644 | DYRK1A | c.826C>G (p.Leu276Val) c.712C>G (p.Leu238Val) c.799C>G (p.Leu267Val) n.629C>G n.190C>G c.847C>G (p.Leu283Val) n.241C>G c.739C>G (p.Leu247Val) c.142C>G (p.Leu48Val) c.820C>G (p.Leu274Val) | |
21 | g.37490336C>T | CA409947645 | DYRK1A | c.826C>T (p.Leu276Phe) c.712C>T (p.Leu238Phe) c.799C>T (p.Leu267Phe) n.629C>T n.190C>T c.847C>T (p.Leu283Phe) n.241C>T c.739C>T (p.Leu247Phe) c.142C>T (p.Leu48Phe) c.820C>T (p.Leu274Phe) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.37490337T>A | CA409947646 | DYRK1A | c.827T>A (p.Leu276His) c.713T>A (p.Leu238His) c.800T>A (p.Leu267His) n.630T>A n.191T>A c.848T>A (p.Leu283His) n.242T>A c.740T>A (p.Leu247His) c.143T>A (p.Leu48His) c.821T>A (p.Leu274His) | |
21 | g.37490337T>C | CA409947647 | DYRK1A | c.827T>C (p.Leu276Pro) c.713T>C (p.Leu238Pro) c.800T>C (p.Leu267Pro) n.630T>C n.191T>C c.848T>C (p.Leu283Pro) n.242T>C c.740T>C (p.Leu247Pro) c.143T>C (p.Leu48Pro) c.821T>C (p.Leu274Pro) | |
21 | g.37490337T>G | CA409947648 | DYRK1A | c.827T>G (p.Leu276Arg) c.713T>G (p.Leu238Arg) c.800T>G (p.Leu267Arg) n.630T>G n.191T>G c.848T>G (p.Leu283Arg) n.242T>G c.740T>G (p.Leu247Arg) c.143T>G (p.Leu48Arg) c.821T>G (p.Leu274Arg) | |
21 | g.37490338T>A | CA512327807 | DYRK1A | c.828T>A (p.Leu276=) c.714T>A (p.Leu238=) c.801T>A (p.Leu267=) n.631T>A n.192T>A c.849T>A (p.Leu283=) n.243T>A c.741T>A (p.Leu247=) c.144T>A (p.Leu48=) c.822T>A (p.Leu274=) | |
21 | g.37490338T>C | CA512327808 | DYRK1A | c.828T>C (p.Leu276=) c.714T>C (p.Leu238=) c.801T>C (p.Leu267=) n.631T>C n.192T>C c.849T>C (p.Leu283=) n.243T>C c.741T>C (p.Leu247=) c.144T>C (p.Leu48=) c.822T>C (p.Leu274=) | |
21 | g.37490338T>G | CA512327809 | DYRK1A | c.828T>G (p.Leu276=) c.714T>G (p.Leu238=) c.801T>G (p.Leu267=) n.631T>G n.192T>G c.849T>G (p.Leu283=) n.243T>G c.741T>G (p.Leu247=) c.144T>G (p.Leu48=) c.822T>G (p.Leu274=) | |
21 | g.37490339G>A | CA409947649 | DYRK1A | c.829G>A (p.Ala277Thr) c.715G>A (p.Ala239Thr) c.802G>A (p.Ala268Thr) n.632G>A n.193G>A c.850G>A (p.Ala284Thr) n.244G>A c.742G>A (p.Ala248Thr) c.145G>A (p.Ala49Thr) c.823G>A (p.Ala275Thr) | |
21 | g.37490339G>C | CA16621000 | DYRK1A | c.829G>C (p.Ala277Pro) c.715G>C (p.Ala239Pro) c.802G>C (p.Ala268Pro) n.632G>C n.193G>C c.850G>C (p.Ala284Pro) n.244G>C c.742G>C (p.Ala248Pro) c.145G>C (p.Ala49Pro) c.823G>C (p.Ala275Pro) | ClinVar dbSNP |
21 | g.37490339G= | CA2388495782 | DYRK1A | c.829G= (p.Ala277=) c.715G= (p.Ala239=) c.802G= (p.Ala268=) n.632G= n.193G= c.850G= (p.Ala284=) n.244G= c.742G= (p.Ala248=) c.145G= (p.Ala49=) c.823G= (p.Ala275=) | |
21 | g.37490339G>T | CA409947650 | DYRK1A | c.829G>T (p.Ala277Ser) c.715G>T (p.Ala239Ser) c.802G>T (p.Ala268Ser) n.632G>T n.193G>T c.850G>T (p.Ala284Ser) n.244G>T c.742G>T (p.Ala248Ser) c.145G>T (p.Ala49Ser) c.823G>T (p.Ala275Ser) | |
21 | g.37490339_37490340delinsGC | CA2388495783 | DYRK1A | c.829_830delinsGC (p.Ala277=) c.715_716delinsGC (p.Ala239=) c.802_803delinsGC (p.Ala268=) n.632_633delinsGC n.193_194delinsGC c.850_851delinsGC (p.Ala284=) n.244_245delinsGC c.742_743delinsGC (p.Ala248=) c.145_146delinsGC (p.Ala49=) c.823_824delinsGC (p.Ala275=) | |
21 | g.37490340del | CA658799440 | DYRK1A | c.830del (p.Ala277GlyfsTer12) c.716del (p.Ala239GlyfsTer12) c.803del (p.Ala268GlyfsTer12) n.633del n.194del c.851del (p.Ala284GlyfsTer12) n.245del c.743del (p.Ala248GlyfsTer12) c.146del (p.Ala49GlyfsTer12) c.824del (p.Ala275GlyfsTer12) | ClinVar dbSNP |
21 | g.37490340C>A | CA409947651 | DYRK1A | c.830C>A (p.Ala277Glu) c.716C>A (p.Ala239Glu) c.803C>A (p.Ala268Glu) n.633C>A n.194C>A c.851C>A (p.Ala284Glu) n.245C>A c.743C>A (p.Ala248Glu) c.146C>A (p.Ala49Glu) c.824C>A (p.Ala275Glu) | |
21 | g.37490340C= | CA2388495784 | DYRK1A | c.830C= (p.Ala277=) c.716C= (p.Ala239=) c.803C= (p.Ala268=) n.633C= n.194C= c.851C= (p.Ala284=) n.245C= c.743C= (p.Ala248=) c.146C= (p.Ala49=) c.824C= (p.Ala275=) | |
21 | g.37490340C>G | CA409947652 | DYRK1A | c.830C>G (p.Ala277Gly) c.716C>G (p.Ala239Gly) c.803C>G (p.Ala268Gly) n.633C>G n.194C>G c.851C>G (p.Ala284Gly) n.245C>G c.743C>G (p.Ala248Gly) c.146C>G (p.Ala49Gly) c.824C>G (p.Ala275Gly) | |
21 | g.37490340C>T | CA409947653 | DYRK1A | c.830C>T (p.Ala277Val) c.716C>T (p.Ala239Val) c.803C>T (p.Ala268Val) n.633C>T n.194C>T c.851C>T (p.Ala284Val) n.245C>T c.743C>T (p.Ala248Val) c.146C>T (p.Ala49Val) c.824C>T (p.Ala275Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
21 | g.37490341G>A | CA10023855 | DYRK1A | c.831G>A (p.Ala277=) c.717G>A (p.Ala239=) c.804G>A (p.Ala268=) n.634G>A n.195G>A c.852G>A (p.Ala284=) n.246G>A c.744G>A (p.Ala248=) c.147G>A (p.Ala49=) c.825G>A (p.Ala275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
21 | g.37490341G>C | CA512327810 | DYRK1A | c.831G>C (p.Ala277=) c.717G>C (p.Ala239=) c.804G>C (p.Ala268=) n.634G>C n.195G>C c.852G>C (p.Ala284=) n.246G>C c.744G>C (p.Ala248=) c.147G>C (p.Ala49=) c.825G>C (p.Ala275=) | |
21 | g.37490341G= | CA2388495785 | DYRK1A | c.831G= (p.Ala277=) c.717G= (p.Ala239=) c.804G= (p.Ala268=) n.634G= n.195G= c.852G= (p.Ala284=) n.246G= c.744G= (p.Ala248=) c.147G= (p.Ala49=) c.825G= (p.Ala275=) | |
21 | g.37490341G>T | CA512327811 | DYRK1A | c.831G>T (p.Ala277=) c.717G>T (p.Ala239=) c.804G>T (p.Ala268=) n.634G>T n.195G>T c.852G>T (p.Ala284=) n.246G>T c.744G>T (p.Ala248=) c.147G>T (p.Ala49=) c.825G>T (p.Ala275=) | |
21 | g.37490342A>C | CA409947654 | DYRK1A | c.832A>C (p.Thr278Pro) c.718A>C (p.Thr240Pro) c.805A>C (p.Thr269Pro) n.635A>C n.196A>C c.853A>C (p.Thr285Pro) n.247A>C c.745A>C (p.Thr249Pro) c.148A>C (p.Thr50Pro) c.826A>C (p.Thr276Pro) | |
21 | g.37490342A>G | CA409947655 | DYRK1A | c.832A>G (p.Thr278Ala) c.718A>G (p.Thr240Ala) c.805A>G (p.Thr269Ala) n.635A>G n.196A>G c.853A>G (p.Thr285Ala) n.247A>G c.745A>G (p.Thr249Ala) c.148A>G (p.Thr50Ala) c.826A>G (p.Thr276Ala) | |
21 | g.37490342A>T | CA409947656 | DYRK1A | c.832A>T (p.Thr278Ser) c.718A>T (p.Thr240Ser) c.805A>T (p.Thr269Ser) n.635A>T n.196A>T c.853A>T (p.Thr285Ser) n.247A>T c.745A>T (p.Thr249Ser) c.148A>T (p.Thr50Ser) c.826A>T (p.Thr276Ser) | |
21 | g.37490343C>A | CA409947657 | DYRK1A | c.833C>A (p.Thr278Asn) c.719C>A (p.Thr240Asn) c.806C>A (p.Thr269Asn) n.636C>A n.197C>A c.854C>A (p.Thr285Asn) n.248C>A c.746C>A (p.Thr249Asn) c.149C>A (p.Thr50Asn) c.827C>A (p.Thr276Asn) | |
21 | g.37490343C>G | CA409947658 | DYRK1A | c.833C>G (p.Thr278Ser) c.719C>G (p.Thr240Ser) c.806C>G (p.Thr269Ser) n.636C>G n.197C>G c.854C>G (p.Thr285Ser) n.248C>G c.746C>G (p.Thr249Ser) c.149C>G (p.Thr50Ser) c.827C>G (p.Thr276Ser) | |
21 | g.37490343C>T | CA409947659 | DYRK1A | c.833C>T (p.Thr278Ile) c.719C>T (p.Thr240Ile) c.806C>T (p.Thr269Ile) n.636C>T n.197C>T c.854C>T (p.Thr285Ile) n.248C>T c.746C>T (p.Thr249Ile) c.149C>T (p.Thr50Ile) c.827C>T (p.Thr276Ile) | |
21 | g.37490344T>A | CA512327813 | DYRK1A | c.834T>A (p.Thr278=) c.720T>A (p.Thr240=) c.807T>A (p.Thr269=) n.637T>A n.198T>A c.855T>A (p.Thr285=) n.249T>A c.747T>A (p.Thr249=) c.150T>A (p.Thr50=) c.828T>A (p.Thr276=) | |
21 | g.37490344T>C | CA512327816 | DYRK1A | c.834T>C (p.Thr278=) c.720T>C (p.Thr240=) c.807T>C (p.Thr269=) n.637T>C n.198T>C c.855T>C (p.Thr285=) n.249T>C c.747T>C (p.Thr249=) c.150T>C (p.Thr50=) c.828T>C (p.Thr276=) | gnomAD v4 COSMIC |
21 | g.37490344T>G | CA512327814 | DYRK1A | c.834T>G (p.Thr278=) c.720T>G (p.Thr240=) c.807T>G (p.Thr269=) n.637T>G n.198T>G c.855T>G (p.Thr285=) n.249T>G c.747T>G (p.Thr249=) c.150T>G (p.Thr50=) c.828T>G (p.Thr276=) | |
21 | g.37490345C>A | CA409947660 | DYRK1A | c.835C>A (p.Pro279Thr) c.721C>A (p.Pro241Thr) c.808C>A (p.Pro270Thr) n.638C>A n.199C>A c.856C>A (p.Pro286Thr) n.250C>A c.748C>A (p.Pro250Thr) c.151C>A (p.Pro51Thr) c.829C>A (p.Pro277Thr) | |
21 | g.37490345C>G | CA409947661 | DYRK1A | c.835C>G (p.Pro279Ala) c.721C>G (p.Pro241Ala) c.808C>G (p.Pro270Ala) n.638C>G n.199C>G c.856C>G (p.Pro286Ala) n.250C>G c.748C>G (p.Pro250Ala) c.151C>G (p.Pro51Ala) c.829C>G (p.Pro277Ala) | |
21 | g.37490345C>T | CA409947662 | DYRK1A | c.835C>T (p.Pro279Ser) c.721C>T (p.Pro241Ser) c.808C>T (p.Pro270Ser) n.638C>T n.199C>T c.856C>T (p.Pro286Ser) n.250C>T c.748C>T (p.Pro250Ser) c.151C>T (p.Pro51Ser) c.829C>T (p.Pro277Ser) | |
21 | g.37490346C>A | CA409947663 | DYRK1A | c.836C>A (p.Pro279Gln) c.722C>A (p.Pro241Gln) c.809C>A (p.Pro270Gln) n.639C>A n.200C>A c.857C>A (p.Pro286Gln) n.251C>A c.749C>A (p.Pro250Gln) c.152C>A (p.Pro51Gln) c.830C>A (p.Pro277Gln) | |
21 | g.37490346C>G | CA409947664 | DYRK1A | c.836C>G (p.Pro279Arg) c.722C>G (p.Pro241Arg) c.809C>G (p.Pro270Arg) n.639C>G n.200C>G c.857C>G (p.Pro286Arg) n.251C>G c.749C>G (p.Pro250Arg) c.152C>G (p.Pro51Arg) c.830C>G (p.Pro277Arg) | COSMIC |
21 | g.37490346C>T | CA409947665 | DYRK1A | c.836C>T (p.Pro279Leu) c.722C>T (p.Pro241Leu) c.809C>T (p.Pro270Leu) n.639C>T n.200C>T c.857C>T (p.Pro286Leu) n.251C>T c.749C>T (p.Pro250Leu) c.152C>T (p.Pro51Leu) c.830C>T (p.Pro277Leu) | |
21 | g.37490347A>C | CA512327820 | DYRK1A | c.837A>C (p.Pro279=) c.723A>C (p.Pro241=) c.810A>C (p.Pro270=) n.640A>C n.201A>C c.858A>C (p.Pro286=) n.252A>C c.750A>C (p.Pro250=) c.153A>C (p.Pro51=) c.831A>C (p.Pro277=) | |
21 | g.37490347A>G | CA512327818 | DYRK1A | c.837A>G (p.Pro279=) c.723A>G (p.Pro241=) c.810A>G (p.Pro270=) n.640A>G n.201A>G c.858A>G (p.Pro286=) n.252A>G c.750A>G (p.Pro250=) c.153A>G (p.Pro51=) c.831A>G (p.Pro277=) | gnomAD v4 |
21 | g.37490347A>T | CA512327819 | DYRK1A | c.837A>T (p.Pro279=) c.723A>T (p.Pro241=) c.810A>T (p.Pro270=) n.640A>T n.201A>T c.858A>T (p.Pro286=) n.252A>T c.750A>T (p.Pro250=) c.153A>T (p.Pro51=) c.831A>T (p.Pro277=) | |
21 | g.37490348G>A | CA409947666 | DYRK1A | c.838G>A (p.Glu280Lys) c.724G>A (p.Glu242Lys) c.811G>A (p.Glu271Lys) n.641G>A n.202G>A c.859G>A (p.Glu287Lys) n.253G>A c.751G>A (p.Glu251Lys) c.154G>A (p.Glu52Lys) c.832G>A (p.Glu278Lys) | |
21 | g.37490348G>C | CA409947668 | DYRK1A | c.838G>C (p.Glu280Gln) c.724G>C (p.Glu242Gln) c.811G>C (p.Glu271Gln) n.641G>C n.202G>C c.859G>C (p.Glu287Gln) n.253G>C c.751G>C (p.Glu251Gln) c.154G>C (p.Glu52Gln) c.832G>C (p.Glu278Gln) | COSMIC |
21 | g.37490348G= | CA2388495786 | DYRK1A | c.838G= (p.Glu280=) c.724G= (p.Glu242=) c.811G= (p.Glu271=) n.641G= n.202G= c.859G= (p.Glu287=) n.253G= c.751G= (p.Glu251=) c.154G= (p.Glu52=) c.832G= (p.Glu278=) | |
21 | g.37490348G>T | CA409947667 | DYRK1A | c.838G>T (p.Glu280Ter) c.724G>T (p.Glu242Ter) c.811G>T (p.Glu271Ter) n.641G>T n.202G>T c.859G>T (p.Glu287Ter) n.253G>T c.751G>T (p.Glu251Ter) c.154G>T (p.Glu52Ter) c.832G>T (p.Glu278Ter) | dbSNP |
21 | g.37490349A>C | CA409947669 | DYRK1A | c.839A>C (p.Glu280Ala) c.725A>C (p.Glu242Ala) c.812A>C (p.Glu271Ala) n.642A>C n.203A>C c.860A>C (p.Glu287Ala) n.254A>C c.752A>C (p.Glu251Ala) c.155A>C (p.Glu52Ala) c.833A>C (p.Glu278Ala) | |
21 | g.37490349A>G | CA409947670 | DYRK1A | c.839A>G (p.Glu280Gly) c.725A>G (p.Glu242Gly) c.812A>G (p.Glu271Gly) n.642A>G n.203A>G c.860A>G (p.Glu287Gly) n.254A>G c.752A>G (p.Glu251Gly) c.155A>G (p.Glu52Gly) c.833A>G (p.Glu278Gly) | |
21 | g.37490349A>T | CA409947671 | DYRK1A | c.839A>T (p.Glu280Val) c.725A>T (p.Glu242Val) c.812A>T (p.Glu271Val) n.642A>T n.203A>T c.860A>T (p.Glu287Val) n.254A>T c.752A>T (p.Glu251Val) c.155A>T (p.Glu52Val) c.833A>T (p.Glu278Val) | |
21 | g.37490350A= | CA2388495787 | DYRK1A | c.840A= (p.Glu280=) c.726A= (p.Glu242=) c.813A= (p.Glu271=) n.643A= n.204A= c.861A= (p.Glu287=) n.255A= c.753A= (p.Glu251=) c.156A= (p.Glu52=) c.834A= (p.Glu278=) | |
21 | g.37490350A>C | CA409947672 | DYRK1A | c.840A>C (p.Glu280Asp) c.726A>C (p.Glu242Asp) c.813A>C (p.Glu271Asp) n.643A>C n.204A>C c.861A>C (p.Glu287Asp) n.255A>C c.753A>C (p.Glu251Asp) c.156A>C (p.Glu52Asp) c.834A>C (p.Glu278Asp) | |
21 | g.37490350A>G | CA512327822 | DYRK1A | c.840A>G (p.Glu280=) c.726A>G (p.Glu242=) c.813A>G (p.Glu271=) n.643A>G n.204A>G c.861A>G (p.Glu287=) n.255A>G c.753A>G (p.Glu251=) c.156A>G (p.Glu52=) c.834A>G (p.Glu278=) | |
21 | g.37490350A>T | CA409947673 | DYRK1A | c.840A>T (p.Glu280Asp) c.726A>T (p.Glu242Asp) c.813A>T (p.Glu271Asp) n.643A>T n.204A>T c.861A>T (p.Glu287Asp) n.255A>T c.753A>T (p.Glu251Asp) c.156A>T (p.Glu52Asp) c.834A>T (p.Glu278Asp) | |
21 | g.37490351C>A | CA409947674 | DYRK1A | c.841C>A (p.Leu281Ile) c.727C>A (p.Leu243Ile) c.814C>A (p.Leu272Ile) n.644C>A n.205C>A c.862C>A (p.Leu288Ile) n.256C>A c.754C>A (p.Leu252Ile) c.157C>A (p.Leu53Ile) c.835C>A (p.Leu279Ile) | |
21 | g.37490351C= | CA2388495788 | DYRK1A | c.841C= (p.Leu281=) c.727C= (p.Leu243=) c.814C= (p.Leu272=) n.644C= n.205C= c.862C= (p.Leu288=) n.256C= c.754C= (p.Leu252=) c.157C= (p.Leu53=) c.835C= (p.Leu279=) | |
21 | g.37490351C>G | CA409947675 | DYRK1A | c.841C>G (p.Leu281Val) c.727C>G (p.Leu243Val) c.814C>G (p.Leu272Val) n.644C>G n.205C>G c.862C>G (p.Leu288Val) n.256C>G c.754C>G (p.Leu252Val) c.157C>G (p.Leu53Val) c.835C>G (p.Leu279Val) | |
21 | g.37490351C>T | CA409947676 | DYRK1A | c.841C>T (p.Leu281Phe) c.727C>T (p.Leu243Phe) c.814C>T (p.Leu272Phe) n.644C>T n.205C>T c.862C>T (p.Leu288Phe) n.256C>T c.754C>T (p.Leu252Phe) c.157C>T (p.Leu53Phe) c.835C>T (p.Leu279Phe) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.37490351dup | CA915952629 | DYRK1A | c.841dup (p.Leu281ProfsTer2) c.727dup (p.Leu243ProfsTer2) c.814dup (p.Leu272ProfsTer2) n.644dup n.205dup c.862dup (p.Leu288ProfsTer2) n.256dup c.754dup (p.Leu252ProfsTer2) c.157dup (p.Leu53ProfsTer2) c.835dup (p.Leu279ProfsTer2) | ClinVar dbSNP |
21 | g.37490351_37490353dup | CA2739289566 | DYRK1A | c.841_843dup (p.Leu281_Ser282insLeu) c.727_729dup (p.Leu243_Ser244insLeu) c.814_816dup (p.Leu272_Ser273insLeu) n.644_646dup n.205_207dup c.862_864dup (p.Leu288_Ser289insLeu) n.256_258dup c.754_756dup (p.Leu252_Ser253insLeu) c.157_159dup (p.Leu53_Ser54insLeu) c.835_837dup (p.Leu279_Ser280insLeu) | |
21 | g.37490352T>A | CA409947677 | DYRK1A | c.842T>A (p.Leu281His) c.728T>A (p.Leu243His) c.815T>A (p.Leu272His) n.645T>A n.206T>A c.863T>A (p.Leu288His) n.257T>A c.755T>A (p.Leu252His) c.158T>A (p.Leu53His) c.836T>A (p.Leu279His) | dbSNP |
21 | g.37490352T>C | CA409947678 | DYRK1A | c.842T>C (p.Leu281Pro) c.728T>C (p.Leu243Pro) c.815T>C (p.Leu272Pro) n.645T>C n.206T>C c.863T>C (p.Leu288Pro) n.257T>C c.755T>C (p.Leu252Pro) c.158T>C (p.Leu53Pro) c.836T>C (p.Leu279Pro) | |
21 | g.37490352T>G | CA409947679 | DYRK1A | c.842T>G (p.Leu281Arg) c.728T>G (p.Leu243Arg) c.815T>G (p.Leu272Arg) n.645T>G n.206T>G c.863T>G (p.Leu288Arg) n.257T>G c.755T>G (p.Leu252Arg) c.158T>G (p.Leu53Arg) c.836T>G (p.Leu279Arg) | |
21 | g.37490352T= | CA2388495789 | DYRK1A | c.842T= (p.Leu281=) c.728T= (p.Leu243=) c.815T= (p.Leu272=) n.645T= n.206T= c.863T= (p.Leu288=) n.257T= c.755T= (p.Leu252=) c.158T= (p.Leu53=) c.836T= (p.Leu279=) | |
21 | g.37490353T>A | CA10023857 | DYRK1A | c.843T>A (p.Leu281=) c.729T>A (p.Leu243=) c.816T>A (p.Leu272=) n.646T>A n.207T>A c.864T>A (p.Leu288=) n.258T>A c.756T>A (p.Leu252=) c.159T>A (p.Leu53=) c.837T>A (p.Leu279=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37490353T>C | CA512327826 | DYRK1A | c.843T>C (p.Leu281=) c.729T>C (p.Leu243=) c.816T>C (p.Leu272=) n.646T>C n.207T>C c.864T>C (p.Leu288=) n.258T>C c.756T>C (p.Leu252=) c.159T>C (p.Leu53=) c.837T>C (p.Leu279=) | ClinVar dbSNP gnomAD v4 |
21 | g.37490353T>G | CA10023856 | DYRK1A | c.843T>G (p.Leu281=) c.729T>G (p.Leu243=) c.816T>G (p.Leu272=) n.646T>G n.207T>G c.864T>G (p.Leu288=) n.258T>G c.756T>G (p.Leu252=) c.159T>G (p.Leu53=) c.837T>G (p.Leu279=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37490353T= | CA2388495790 | DYRK1A | c.843T= (p.Leu281=) c.729T= (p.Leu243=) c.816T= (p.Leu272=) n.646T= n.207T= c.864T= (p.Leu288=) n.258T= c.756T= (p.Leu252=) c.159T= (p.Leu53=) c.837T= (p.Leu279=) | |
21 | g.37490354A>C | CA409947680 | DYRK1A | c.844A>C (p.Ser282Arg) c.730A>C (p.Ser244Arg) c.817A>C (p.Ser273Arg) n.647A>C n.208A>C c.865A>C (p.Ser289Arg) n.259A>C c.757A>C (p.Ser253Arg) c.160A>C (p.Ser54Arg) c.838A>C (p.Ser280Arg) | |
21 | g.37490354A>G | CA409947681 | DYRK1A | c.844A>G (p.Ser282Gly) c.730A>G (p.Ser244Gly) c.817A>G (p.Ser273Gly) n.647A>G n.208A>G c.865A>G (p.Ser289Gly) n.259A>G c.757A>G (p.Ser253Gly) c.160A>G (p.Ser54Gly) c.838A>G (p.Ser280Gly) | gnomAD v4 |
21 | g.37490354A>T | CA409947682 | DYRK1A | c.844A>T (p.Ser282Cys) c.730A>T (p.Ser244Cys) c.817A>T (p.Ser273Cys) n.647A>T n.208A>T c.865A>T (p.Ser289Cys) n.259A>T c.757A>T (p.Ser253Cys) c.160A>T (p.Ser54Cys) c.838A>T (p.Ser280Cys) | |
21 | g.37490354dup | CA278456 | DYRK1A | c.844dup (p.Ser282LysfsTer6) c.730dup (p.Ser244LysfsTer6) c.817dup (p.Ser273LysfsTer6) n.647dup n.208dup c.865dup (p.Ser289LysfsTer6) n.259dup c.757dup (p.Ser253LysfsTer6) c.160dup (p.Ser54LysfsTer6) c.838dup (p.Ser280LysfsTer6) | ClinVar dbSNP |
21 | g.37490355G>A | CA10023858 | DYRK1A | c.845G>A (p.Ser282Asn) c.731G>A (p.Ser244Asn) c.818G>A (p.Ser273Asn) n.648G>A n.209G>A c.866G>A (p.Ser289Asn) n.260G>A c.758G>A (p.Ser253Asn) c.161G>A (p.Ser54Asn) c.839G>A (p.Ser280Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37490355G>C | CA409947683 | DYRK1A | c.845G>C (p.Ser282Thr) c.731G>C (p.Ser244Thr) c.818G>C (p.Ser273Thr) n.648G>C n.209G>C c.866G>C (p.Ser289Thr) n.260G>C c.758G>C (p.Ser253Thr) c.161G>C (p.Ser54Thr) c.839G>C (p.Ser280Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37490355G= | CA2388495791 | DYRK1A | c.845G= (p.Ser282=) c.731G= (p.Ser244=) c.818G= (p.Ser273=) n.648G= n.209G= c.866G= (p.Ser289=) n.260G= c.758G= (p.Ser253=) c.161G= (p.Ser54=) c.839G= (p.Ser280=) | |
21 | g.37490355G>T | CA409947684 | DYRK1A | c.845G>T (p.Ser282Ile) c.731G>T (p.Ser244Ile) c.818G>T (p.Ser273Ile) n.648G>T n.209G>T c.866G>T (p.Ser289Ile) n.260G>T c.758G>T (p.Ser253Ile) c.161G>T (p.Ser54Ile) c.839G>T (p.Ser280Ile) | |
21 | g.37490356T>A | CA409947685 | DYRK1A | c.846T>A (p.Ser282Arg) c.732T>A (p.Ser244Arg) c.819T>A (p.Ser273Arg) n.649T>A n.210T>A c.867T>A (p.Ser289Arg) n.261T>A c.759T>A (p.Ser253Arg) c.162T>A (p.Ser54Arg) c.840T>A (p.Ser280Arg) | |
21 | g.37490356T>C | CA512327828 | DYRK1A | c.846T>C (p.Ser282=) c.732T>C (p.Ser244=) c.819T>C (p.Ser273=) n.649T>C n.210T>C c.867T>C (p.Ser289=) n.261T>C c.759T>C (p.Ser253=) c.162T>C (p.Ser54=) c.840T>C (p.Ser280=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
21 | g.37490356T>G | CA409947686 | DYRK1A | c.846T>G (p.Ser282Arg) c.732T>G (p.Ser244Arg) c.819T>G (p.Ser273Arg) n.649T>G n.210T>G c.867T>G (p.Ser289Arg) n.261T>G c.759T>G (p.Ser253Arg) c.162T>G (p.Ser54Arg) c.840T>G (p.Ser280Arg) | |
21 | g.37490356T= | CA2388495792 | DYRK1A | c.846T= (p.Ser282=) c.732T= (p.Ser244=) c.819T= (p.Ser273=) n.649T= n.210T= c.867T= (p.Ser289=) n.261T= c.759T= (p.Ser253=) c.162T= (p.Ser54=) c.840T= (p.Ser280=) | |
21 | g.37490357A= | CA2388495793 | DYRK1A | c.847A= (p.Ile283=) c.733A= (p.Ile245=) c.820A= (p.Ile274=) n.650A= n.211A= c.868A= (p.Ile290=) n.262A= c.760A= (p.Ile254=) c.163A= (p.Ile55=) c.841A= (p.Ile281=) | |
21 | g.37490357A>C | CA409947687 | DYRK1A | c.847A>C (p.Ile283Leu) c.733A>C (p.Ile245Leu) c.820A>C (p.Ile274Leu) n.650A>C n.211A>C c.868A>C (p.Ile290Leu) n.262A>C c.760A>C (p.Ile254Leu) c.163A>C (p.Ile55Leu) c.841A>C (p.Ile281Leu) | |
21 | g.37490357A>G | CA10023859 | DYRK1A | c.847A>G (p.Ile283Val) c.733A>G (p.Ile245Val) c.820A>G (p.Ile274Val) n.650A>G n.211A>G c.868A>G (p.Ile290Val) n.262A>G c.760A>G (p.Ile254Val) c.163A>G (p.Ile55Val) c.841A>G (p.Ile281Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.37490357A>T | CA409947688 | DYRK1A | c.847A>T (p.Ile283Phe) c.733A>T (p.Ile245Phe) c.820A>T (p.Ile274Phe) n.650A>T n.211A>T c.868A>T (p.Ile290Phe) n.262A>T c.760A>T (p.Ile254Phe) c.163A>T (p.Ile55Phe) c.841A>T (p.Ile281Phe) | |
21 | g.37490358T>A | CA409947690 | DYRK1A | c.848T>A (p.Ile283Asn) c.734T>A (p.Ile245Asn) c.821T>A (p.Ile274Asn) n.651T>A n.212T>A c.869T>A (p.Ile290Asn) n.263T>A c.761T>A (p.Ile254Asn) c.164T>A (p.Ile55Asn) c.842T>A (p.Ile281Asn) | |
21 | g.37490358T>C | CA409947691 | DYRK1A | c.848T>C (p.Ile283Thr) c.734T>C (p.Ile245Thr) c.821T>C (p.Ile274Thr) n.651T>C n.212T>C c.869T>C (p.Ile290Thr) n.263T>C c.761T>C (p.Ile254Thr) c.164T>C (p.Ile55Thr) c.842T>C (p.Ile281Thr) | |
21 | g.37490358T>G | CA409947689 | DYRK1A | c.848T>G (p.Ile283Ser) c.734T>G (p.Ile245Ser) c.821T>G (p.Ile274Ser) n.651T>G n.212T>G c.869T>G (p.Ile290Ser) n.263T>G c.761T>G (p.Ile254Ser) c.164T>G (p.Ile55Ser) c.842T>G (p.Ile281Ser) | ClinVar |
21 | g.37490359C>A | CA512327830 | DYRK1A | c.849C>A (p.Ile283=) c.735C>A (p.Ile245=) c.822C>A (p.Ile274=) n.652C>A n.213C>A c.870C>A (p.Ile290=) n.264C>A c.762C>A (p.Ile254=) c.165C>A (p.Ile55=) c.843C>A (p.Ile281=) | |
21 | g.37490359C= | CA2388495794 | DYRK1A | c.849C= (p.Ile283=) c.735C= (p.Ile245=) c.822C= (p.Ile274=) n.652C= n.213C= c.870C= (p.Ile290=) n.264C= c.762C= (p.Ile254=) c.165C= (p.Ile55=) c.843C= (p.Ile281=) | |
21 | g.37490359C>G | CA409947692 | DYRK1A | c.849C>G (p.Ile283Met) c.735C>G (p.Ile245Met) c.822C>G (p.Ile274Met) n.652C>G n.213C>G c.870C>G (p.Ile290Met) n.264C>G c.762C>G (p.Ile254Met) c.165C>G (p.Ile55Met) c.843C>G (p.Ile281Met) | |
21 | g.37490359C>T | CA10023860 | DYRK1A | c.849C>T (p.Ile283=) c.735C>T (p.Ile245=) c.822C>T (p.Ile274=) n.652C>T n.213C>T c.870C>T (p.Ile290=) n.264C>T c.762C>T (p.Ile254=) c.165C>T (p.Ile55=) c.843C>T (p.Ile281=) | dbSNP ExAC gnomAD v4 |
21 | g.37490359dup | CA2580617637 | DYRK1A | c.849dup (p.Ile284HisfsTer4) c.735dup (p.Ile246HisfsTer4) c.822dup (p.Ile275HisfsTer4) n.652dup n.213dup c.870dup (p.Ile291HisfsTer4) n.264dup c.762dup (p.Ile255HisfsTer4) c.165dup (p.Ile56HisfsTer4) c.843dup (p.Ile282HisfsTer4) | ClinVar |
21 | g.37490360A>C | CA409947693 | DYRK1A | c.850A>C (p.Ile284Leu) c.736A>C (p.Ile246Leu) c.823A>C (p.Ile275Leu) n.653A>C n.214A>C c.871A>C (p.Ile291Leu) n.265A>C c.763A>C (p.Ile255Leu) c.166A>C (p.Ile56Leu) c.844A>C (p.Ile282Leu) | |
21 | g.37490360A>G | CA409947694 | DYRK1A | c.850A>G (p.Ile284Val) c.736A>G (p.Ile246Val) c.823A>G (p.Ile275Val) n.653A>G n.214A>G c.871A>G (p.Ile291Val) n.265A>G c.763A>G (p.Ile255Val) c.166A>G (p.Ile56Val) c.844A>G (p.Ile282Val) | gnomAD v4 |
21 | g.37490360A>T | CA409947695 | DYRK1A | c.850A>T (p.Ile284Phe) c.736A>T (p.Ile246Phe) c.823A>T (p.Ile275Phe) n.653A>T n.214A>T c.871A>T (p.Ile291Phe) n.265A>T c.763A>T (p.Ile255Phe) c.166A>T (p.Ile56Phe) c.844A>T (p.Ile282Phe) | |
21 | g.37490361T>A | CA409947696 | DYRK1A | c.851T>A (p.Ile284Asn) c.737T>A (p.Ile246Asn) c.824T>A (p.Ile275Asn) n.654T>A n.215T>A c.872T>A (p.Ile291Asn) n.266T>A c.764T>A (p.Ile255Asn) c.167T>A (p.Ile56Asn) c.845T>A (p.Ile282Asn) | |
21 | g.37490361T>C | CA409947697 | DYRK1A | c.851T>C (p.Ile284Thr) c.737T>C (p.Ile246Thr) c.824T>C (p.Ile275Thr) n.654T>C n.215T>C c.872T>C (p.Ile291Thr) n.266T>C c.764T>C (p.Ile255Thr) c.167T>C (p.Ile56Thr) c.845T>C (p.Ile282Thr) | |
21 | g.37490361T>G | CA409947698 | DYRK1A | c.851T>G (p.Ile284Ser) c.737T>G (p.Ile246Ser) c.824T>G (p.Ile275Ser) n.654T>G n.215T>G c.872T>G (p.Ile291Ser) n.266T>G c.764T>G (p.Ile255Ser) c.167T>G (p.Ile56Ser) c.845T>G (p.Ile282Ser) | |
21 | g.37490362T>A | CA512327833 | DYRK1A | c.852T>A (p.Ile284=) c.738T>A (p.Ile246=) c.825T>A (p.Ile275=) n.655T>A n.216T>A c.873T>A (p.Ile291=) n.267T>A c.765T>A (p.Ile255=) c.168T>A (p.Ile56=) c.846T>A (p.Ile282=) | |
21 | g.37490362T>C | CA512327835 | DYRK1A | c.852T>C (p.Ile284=) c.738T>C (p.Ile246=) c.825T>C (p.Ile275=) n.655T>C n.216T>C c.873T>C (p.Ile291=) n.267T>C c.765T>C (p.Ile255=) c.168T>C (p.Ile56=) c.846T>C (p.Ile282=) | |
21 | g.37490362T>G | CA409947699 | DYRK1A | c.852T>G (p.Ile284Met) c.738T>G (p.Ile246Met) c.825T>G (p.Ile275Met) n.655T>G n.216T>G c.873T>G (p.Ile291Met) n.267T>G c.765T>G (p.Ile255Met) c.168T>G (p.Ile56Met) c.846T>G (p.Ile282Met) | |
21 | g.37490363C>A | CA409947700 | DYRK1A | c.853C>A (p.His285Asn) c.739C>A (p.His247Asn) c.826C>A (p.His276Asn) n.656C>A n.217C>A c.874C>A (p.His292Asn) n.268C>A c.766C>A (p.His256Asn) c.169C>A (p.His57Asn) c.847C>A (p.His283Asn) | |
21 | g.37490363C>G | CA409947701 | DYRK1A | c.853C>G (p.His285Asp) c.739C>G (p.His247Asp) c.826C>G (p.His276Asp) n.656C>G n.217C>G c.874C>G (p.His292Asp) n.268C>G c.766C>G (p.His256Asp) c.169C>G (p.His57Asp) c.847C>G (p.His283Asp) | |
21 | g.37490363C>T | CA409947702 | DYRK1A | c.853C>T (p.His285Tyr) c.739C>T (p.His247Tyr) c.826C>T (p.His276Tyr) n.656C>T n.217C>T c.874C>T (p.His292Tyr) n.268C>T c.766C>T (p.His256Tyr) c.169C>T (p.His57Tyr) c.847C>T (p.His283Tyr) | |
21 | g.37490364A>C | CA409947703 | DYRK1A | c.854A>C (p.His285Pro) c.740A>C (p.His247Pro) c.827A>C (p.His276Pro) n.657A>C n.218A>C c.875A>C (p.His292Pro) n.269A>C c.767A>C (p.His256Pro) c.170A>C (p.His57Pro) c.848A>C (p.His283Pro) | |
21 | g.37490364A>G | CA409947704 | DYRK1A | c.854A>G (p.His285Arg) c.740A>G (p.His247Arg) c.827A>G (p.His276Arg) n.657A>G n.218A>G c.875A>G (p.His292Arg) n.269A>G c.767A>G (p.His256Arg) c.170A>G (p.His57Arg) c.848A>G (p.His283Arg) | ClinVar dbSNP |
21 | g.37490364A>T | CA409947705 | DYRK1A | c.854A>T (p.His285Leu) c.740A>T (p.His247Leu) c.827A>T (p.His276Leu) n.657A>T n.218A>T c.875A>T (p.His292Leu) n.269A>T c.767A>T (p.His256Leu) c.170A>T (p.His57Leu) c.848A>T (p.His283Leu) | |
21 | g.37490365C>A | CA409947706 | DYRK1A | c.855C>A (p.His285Gln) c.741C>A (p.His247Gln) c.828C>A (p.His276Gln) n.658C>A n.219C>A c.876C>A (p.His292Gln) n.270C>A c.768C>A (p.His256Gln) c.171C>A (p.His57Gln) c.849C>A (p.His283Gln) | COSMIC |
21 | g.37490365C>G | CA409947707 | DYRK1A | c.855C>G (p.His285Gln) c.741C>G (p.His247Gln) c.828C>G (p.His276Gln) n.658C>G n.219C>G c.876C>G (p.His292Gln) n.270C>G c.768C>G (p.His256Gln) c.171C>G (p.His57Gln) c.849C>G (p.His283Gln) | |
21 | g.37490365C>T | CA512327839 | DYRK1A | c.855C>T (p.His285=) c.741C>T (p.His247=) c.828C>T (p.His276=) n.658C>T n.219C>T c.876C>T (p.His292=) n.270C>T c.768C>T (p.His256=) c.171C>T (p.His57=) c.849C>T (p.His283=) | gnomAD v4 |
21 | g.37490366T>A | CA409947708 | DYRK1A | c.856T>A (p.Cys286Ser) c.742T>A (p.Cys248Ser) c.829T>A (p.Cys277Ser) n.659T>A n.220T>A c.877T>A (p.Cys293Ser) n.271T>A c.769T>A (p.Cys257Ser) c.172T>A (p.Cys58Ser) c.850T>A (p.Cys284Ser) | |
21 | g.37490366T>C | CA409947709 | DYRK1A | c.856T>C (p.Cys286Arg) c.742T>C (p.Cys248Arg) c.829T>C (p.Cys277Arg) n.659T>C n.220T>C c.877T>C (p.Cys293Arg) n.271T>C c.769T>C (p.Cys257Arg) c.172T>C (p.Cys58Arg) c.850T>C (p.Cys284Arg) | |
21 | g.37490366T>G | CA409947710 | DYRK1A | c.856T>G (p.Cys286Gly) c.742T>G (p.Cys248Gly) c.829T>G (p.Cys277Gly) n.659T>G n.220T>G c.877T>G (p.Cys293Gly) n.271T>G c.769T>G (p.Cys257Gly) c.172T>G (p.Cys58Gly) c.850T>G (p.Cys284Gly) | gnomAD v4 |
21 | g.37490367G>A | CA409947711 | DYRK1A | c.857G>A (p.Cys286Tyr) c.743G>A (p.Cys248Tyr) c.830G>A (p.Cys277Tyr) n.660G>A n.221G>A c.878G>A (p.Cys293Tyr) n.272G>A c.770G>A (p.Cys257Tyr) c.173G>A (p.Cys58Tyr) c.851G>A (p.Cys284Tyr) | ClinVar dbSNP COSMIC |
21 | g.37490367G>C | CA409947712 | DYRK1A | c.857G>C (p.Cys286Ser) c.743G>C (p.Cys248Ser) c.830G>C (p.Cys277Ser) n.660G>C n.221G>C c.878G>C (p.Cys293Ser) n.272G>C c.770G>C (p.Cys257Ser) c.173G>C (p.Cys58Ser) c.851G>C (p.Cys284Ser) | |
21 | g.37490367G>T | CA409947713 | DYRK1A | c.857G>T (p.Cys286Phe) c.743G>T (p.Cys248Phe) c.830G>T (p.Cys277Phe) n.660G>T n.221G>T c.878G>T (p.Cys293Phe) n.272G>T c.770G>T (p.Cys257Phe) c.173G>T (p.Cys58Phe) c.851G>T (p.Cys284Phe) | |
21 | g.37490368T>A | CA409947714 | DYRK1A | c.858T>A (p.Cys286Ter) c.744T>A (p.Cys248Ter) c.831T>A (p.Cys277Ter) n.661T>A n.222T>A c.879T>A (p.Cys293Ter) n.273T>A c.771T>A (p.Cys257Ter) c.174T>A (p.Cys58Ter) c.852T>A (p.Cys284Ter) | dbSNP |
21 | g.37490368T>C | CA512327843 | DYRK1A | c.858T>C (p.Cys286=) c.744T>C (p.Cys248=) c.831T>C (p.Cys277=) n.661T>C n.222T>C c.879T>C (p.Cys293=) n.273T>C c.771T>C (p.Cys257=) c.174T>C (p.Cys58=) c.852T>C (p.Cys284=) | |
21 | g.37490368T>G | CA409947715 | DYRK1A | c.858T>G (p.Cys286Trp) c.744T>G (p.Cys248Trp) c.831T>G (p.Cys277Trp) n.661T>G n.222T>G c.879T>G (p.Cys293Trp) n.273T>G c.771T>G (p.Cys257Trp) c.174T>G (p.Cys58Trp) c.852T>G (p.Cys284Trp) | |
21 | g.37490368T= | CA2388495795 | DYRK1A | c.858T= (p.Cys286=) c.744T= (p.Cys248=) c.831T= (p.Cys277=) n.661T= n.222T= c.879T= (p.Cys293=) n.273T= c.771T= (p.Cys257=) c.174T= (p.Cys58=) c.852T= (p.Cys284=) | |
21 | g.37490369G>A | CA409947716 | DYRK1A | c.859G>A (p.Asp287Asn) c.745G>A (p.Asp249Asn) c.832G>A (p.Asp278Asn) n.662G>A n.223G>A c.880G>A (p.Asp294Asn) n.274G>A c.772G>A (p.Asp258Asn) c.175G>A (p.Asp59Asn) c.853G>A (p.Asp285Asn) | |
21 | g.37490369G>C | CA409947717 | DYRK1A | c.859G>C (p.Asp287His) c.745G>C (p.Asp249His) c.832G>C (p.Asp278His) n.662G>C n.223G>C c.880G>C (p.Asp294His) n.274G>C c.772G>C (p.Asp258His) c.175G>C (p.Asp59His) c.853G>C (p.Asp285His) | |
21 | g.37490369G>T | CA409947718 | DYRK1A | c.859G>T (p.Asp287Tyr) c.745G>T (p.Asp249Tyr) c.832G>T (p.Asp278Tyr) n.662G>T n.223G>T c.880G>T (p.Asp294Tyr) n.274G>T c.772G>T (p.Asp258Tyr) c.175G>T (p.Asp59Tyr) c.853G>T (p.Asp285Tyr) | |
21 | g.37490370A= | CA2388495796 | DYRK1A | c.860A= (p.Asp287=) c.746A= (p.Asp249=) c.833A= (p.Asp278=) n.663A= n.224A= c.881A= (p.Asp294=) n.275A= c.773A= (p.Asp258=) c.176A= (p.Asp59=) c.854A= (p.Asp285=) | |
21 | g.37490370A>C | CA409947721 | DYRK1A | c.860A>C (p.Asp287Ala) c.746A>C (p.Asp249Ala) c.833A>C (p.Asp278Ala) n.663A>C n.224A>C c.881A>C (p.Asp294Ala) n.275A>C c.773A>C (p.Asp258Ala) c.176A>C (p.Asp59Ala) c.854A>C (p.Asp285Ala) | |
21 | g.37490370A>G | CA409947720 | DYRK1A | c.860A>G (p.Asp287Gly) c.746A>G (p.Asp249Gly) c.833A>G (p.Asp278Gly) n.663A>G n.224A>G c.881A>G (p.Asp294Gly) n.275A>G c.773A>G (p.Asp258Gly) c.176A>G (p.Asp59Gly) c.854A>G (p.Asp285Gly) | ClinVar dbSNP |
21 | g.37490370A>T | CA409947719 | DYRK1A | c.860A>T (p.Asp287Val) c.746A>T (p.Asp249Val) c.833A>T (p.Asp278Val) n.663A>T n.224A>T c.881A>T (p.Asp294Val) n.275A>T c.773A>T (p.Asp258Val) c.176A>T (p.Asp59Val) c.854A>T (p.Asp285Val) | ClinVar dbSNP |
21 | g.37490371T>A | CA409947722 | DYRK1A | c.861T>A (p.Asp287Glu) c.747T>A (p.Asp249Glu) c.834T>A (p.Asp278Glu) n.664T>A n.225T>A c.882T>A (p.Asp294Glu) n.276T>A c.774T>A (p.Asp258Glu) c.177T>A (p.Asp59Glu) c.855T>A (p.Asp285Glu) | |
21 | g.37490371T>C | CA512327846 | DYRK1A | c.861T>C (p.Asp287=) c.747T>C (p.Asp249=) c.834T>C (p.Asp278=) n.664T>C n.225T>C c.882T>C (p.Asp294=) n.276T>C c.774T>C (p.Asp258=) c.177T>C (p.Asp59=) c.855T>C (p.Asp285=) | |
21 | g.37490371T>G | CA409947723 | DYRK1A | c.861T>G (p.Asp287Glu) c.747T>G (p.Asp249Glu) c.834T>G (p.Asp278Glu) n.664T>G n.225T>G c.882T>G (p.Asp294Glu) n.276T>G c.774T>G (p.Asp258Glu) c.177T>G (p.Asp59Glu) c.855T>G (p.Asp285Glu) | |
21 | g.37490372C>A | CA409947724 | DYRK1A | c.862C>A (p.Leu288Ile) c.748C>A (p.Leu250Ile) c.835C>A (p.Leu279Ile) n.665C>A n.226C>A c.883C>A (p.Leu295Ile) n.277C>A c.775C>A (p.Leu259Ile) c.178C>A (p.Leu60Ile) c.856C>A (p.Leu286Ile) | |
21 | g.37490372C>G | CA409947725 | DYRK1A | c.862C>G (p.Leu288Val) c.748C>G (p.Leu250Val) c.835C>G (p.Leu279Val) n.665C>G n.226C>G c.883C>G (p.Leu295Val) n.277C>G c.775C>G (p.Leu259Val) c.178C>G (p.Leu60Val) c.856C>G (p.Leu286Val) | |
21 | g.37490372C>T | CA512327848 | DYRK1A | c.862C>T (p.Leu288=) c.748C>T (p.Leu250=) c.835C>T (p.Leu279=) n.665C>T n.226C>T c.883C>T (p.Leu295=) n.277C>T c.775C>T (p.Leu259=) c.178C>T (p.Leu60=) c.856C>T (p.Leu286=) | |
21 | g.37490373T>A | CA409947726 | DYRK1A | c.863T>A (p.Leu288Gln) c.749T>A (p.Leu250Gln) c.836T>A (p.Leu279Gln) n.666T>A n.227T>A c.884T>A (p.Leu295Gln) n.278T>A c.776T>A (p.Leu259Gln) c.179T>A (p.Leu60Gln) c.857T>A (p.Leu286Gln) | |
21 | g.37490373T>C | CA409947727 | DYRK1A | c.863T>C (p.Leu288Pro) c.749T>C (p.Leu250Pro) c.836T>C (p.Leu279Pro) n.666T>C n.227T>C c.884T>C (p.Leu295Pro) n.278T>C c.776T>C (p.Leu259Pro) c.179T>C (p.Leu60Pro) c.857T>C (p.Leu286Pro) | |
21 | g.37490373T>G | CA409947728 | DYRK1A | c.863T>G (p.Leu288Arg) c.749T>G (p.Leu250Arg) c.836T>G (p.Leu279Arg) n.666T>G n.227T>G c.884T>G (p.Leu295Arg) n.278T>G c.776T>G (p.Leu259Arg) c.179T>G (p.Leu60Arg) c.857T>G (p.Leu286Arg) | |
21 | g.37490374A= | CA2388495797 | DYRK1A | c.864A= (p.Leu288=) c.750A= (p.Leu250=) c.837A= (p.Leu279=) n.667A= n.228A= c.885A= (p.Leu295=) n.279A= c.777A= (p.Leu259=) c.180A= (p.Leu60=) c.858A= (p.Leu286=) | |
21 | g.37490374A>C | CA512327849 | DYRK1A | c.864A>C (p.Leu288=) c.750A>C (p.Leu250=) c.837A>C (p.Leu279=) n.667A>C n.228A>C c.885A>C (p.Leu295=) n.279A>C c.777A>C (p.Leu259=) c.180A>C (p.Leu60=) c.858A>C (p.Leu286=) | |
21 | g.37490374A>G | CA10023861 | DYRK1A | c.864A>G (p.Leu288=) c.750A>G (p.Leu250=) c.837A>G (p.Leu279=) n.667A>G n.228A>G c.885A>G (p.Leu295=) n.279A>G c.777A>G (p.Leu259=) c.180A>G (p.Leu60=) c.858A>G (p.Leu286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37490374A>T | CA512327853 | DYRK1A | c.864A>T (p.Leu288=) c.750A>T (p.Leu250=) c.837A>T (p.Leu279=) n.667A>T n.228A>T c.885A>T (p.Leu295=) n.279A>T c.777A>T (p.Leu259=) c.180A>T (p.Leu60=) c.858A>T (p.Leu286=) | |
21 | g.37490377dup | CA2573157427 | DYRK1A | c.867dup (p.Pro290ThrfsTer2) c.753dup (p.Pro252ThrfsTer2) c.840dup (p.Pro281ThrfsTer2) n.670dup n.231dup c.888dup (p.Pro297ThrfsTer2) n.282dup c.780dup (p.Pro261ThrfsTer2) c.183dup (p.Pro62ThrfsTer2) c.861dup (p.Pro288ThrfsTer2) | ClinVar dbSNP |
21 | g.37490377del | CA2580098706 | DYRK1A | c.867del (p.Lys289AsnfsTer17) c.753del (p.Lys251AsnfsTer17) c.840del (p.Lys280AsnfsTer17) n.670del n.231del c.888del (p.Lys296AsnfsTer17) n.282del c.780del (p.Lys260AsnfsTer17) c.183del (p.Lys61AsnfsTer17) c.861del (p.Lys287AsnfsTer17) | ClinVar |
21 | g.37490375A= | CA2388495798 | DYRK1A | c.865A= (p.Lys289=) c.751A= (p.Lys251=) c.838A= (p.Lys280=) n.668A= n.229A= c.886A= (p.Lys296=) n.280A= c.778A= (p.Lys260=) c.181A= (p.Lys61=) c.859A= (p.Lys287=) | |
21 | g.37490375A>C | CA409947729 | DYRK1A | c.865A>C (p.Lys289Gln) c.751A>C (p.Lys251Gln) c.838A>C (p.Lys280Gln) n.668A>C n.229A>C c.886A>C (p.Lys296Gln) n.280A>C c.778A>C (p.Lys260Gln) c.181A>C (p.Lys61Gln) c.859A>C (p.Lys287Gln) | |
21 | g.37490375A>G | CA409947730 | DYRK1A | c.865A>G (p.Lys289Glu) c.751A>G (p.Lys251Glu) c.838A>G (p.Lys280Glu) n.668A>G n.229A>G c.886A>G (p.Lys296Glu) n.280A>G c.778A>G (p.Lys260Glu) c.181A>G (p.Lys61Glu) c.859A>G (p.Lys287Glu) | |
21 | g.37490375A>T | CA409947731 | DYRK1A | c.865A>T (p.Lys289Ter) c.751A>T (p.Lys251Ter) c.838A>T (p.Lys280Ter) n.668A>T n.229A>T c.886A>T (p.Lys296Ter) n.280A>T c.778A>T (p.Lys260Ter) c.181A>T (p.Lys61Ter) c.859A>T (p.Lys287Ter) | dbSNP |
21 | g.37490376A>C | CA409947732 | DYRK1A | c.866A>C (p.Lys289Thr) c.752A>C (p.Lys251Thr) c.839A>C (p.Lys280Thr) n.669A>C n.230A>C c.887A>C (p.Lys296Thr) n.281A>C c.779A>C (p.Lys260Thr) c.182A>C (p.Lys61Thr) c.860A>C (p.Lys287Thr) | |
21 | g.37490376A>G | CA409947733 | DYRK1A | c.866A>G (p.Lys289Arg) c.752A>G (p.Lys251Arg) c.839A>G (p.Lys280Arg) n.669A>G n.230A>G c.887A>G (p.Lys296Arg) n.281A>G c.779A>G (p.Lys260Arg) c.182A>G (p.Lys61Arg) c.860A>G (p.Lys287Arg) | |
21 | g.37490376A>T | CA409947734 | DYRK1A | c.866A>T (p.Lys289Ile) c.752A>T (p.Lys251Ile) c.839A>T (p.Lys280Ile) n.669A>T n.230A>T c.887A>T (p.Lys296Ile) n.281A>T c.779A>T (p.Lys260Ile) c.182A>T (p.Lys61Ile) c.860A>T (p.Lys287Ile) | |
21 | g.37490377A>C | CA409947735 | DYRK1A | c.867A>C (p.Lys289Asn) c.753A>C (p.Lys251Asn) c.840A>C (p.Lys280Asn) n.670A>C n.231A>C c.888A>C (p.Lys296Asn) n.282A>C c.780A>C (p.Lys260Asn) c.183A>C (p.Lys61Asn) c.861A>C (p.Lys287Asn) | |
21 | g.37490377A>G | CA512327855 | DYRK1A | c.867A>G (p.Lys289=) c.753A>G (p.Lys251=) c.840A>G (p.Lys280=) n.670A>G n.231A>G c.888A>G (p.Lys296=) n.282A>G c.780A>G (p.Lys260=) c.183A>G (p.Lys61=) c.861A>G (p.Lys287=) | |
21 | g.37490377A>T | CA409947736 | DYRK1A | c.867A>T (p.Lys289Asn) c.753A>T (p.Lys251Asn) c.840A>T (p.Lys280Asn) n.670A>T n.231A>T c.888A>T (p.Lys296Asn) n.282A>T c.780A>T (p.Lys260Asn) c.183A>T (p.Lys61Asn) c.861A>T (p.Lys287Asn) | |
21 | g.37490378C>A | CA409947737 | DYRK1A | c.868C>A (p.Pro290Thr) c.754C>A (p.Pro252Thr) c.841C>A (p.Pro281Thr) n.671C>A n.232C>A c.889C>A (p.Pro297Thr) n.283C>A c.781C>A (p.Pro261Thr) c.184C>A (p.Pro62Thr) c.862C>A (p.Pro288Thr) | |
21 | g.37490378C>G | CA409947738 | DYRK1A | c.868C>G (p.Pro290Ala) c.754C>G (p.Pro252Ala) c.841C>G (p.Pro281Ala) n.671C>G n.232C>G c.889C>G (p.Pro297Ala) n.283C>G c.781C>G (p.Pro261Ala) c.184C>G (p.Pro62Ala) c.862C>G (p.Pro288Ala) | |
21 | g.37490378C>T | CA409947739 | DYRK1A | c.868C>T (p.Pro290Ser) c.754C>T (p.Pro252Ser) c.841C>T (p.Pro281Ser) n.671C>T n.232C>T c.889C>T (p.Pro297Ser) n.283C>T c.781C>T (p.Pro261Ser) c.184C>T (p.Pro62Ser) c.862C>T (p.Pro288Ser) | |
21 | g.37490379C>A | CA409947740 | DYRK1A | c.869C>A (p.Pro290His) c.755C>A (p.Pro252His) c.842C>A (p.Pro281His) n.672C>A n.233C>A c.890C>A (p.Pro297His) n.284C>A c.782C>A (p.Pro261His) c.185C>A (p.Pro62His) c.863C>A (p.Pro288His) | |
21 | g.37490379C= | CA2388495799 | DYRK1A | c.869C= (p.Pro290=) c.755C= (p.Pro252=) c.842C= (p.Pro281=) n.672C= n.233C= c.890C= (p.Pro297=) n.284C= c.782C= (p.Pro261=) c.185C= (p.Pro62=) c.863C= (p.Pro288=) | |
21 | g.37490379C>G | CA409947741 | DYRK1A | c.869C>G (p.Pro290Arg) c.755C>G (p.Pro252Arg) c.842C>G (p.Pro281Arg) n.672C>G n.233C>G c.890C>G (p.Pro297Arg) n.284C>G c.782C>G (p.Pro261Arg) c.185C>G (p.Pro62Arg) c.863C>G (p.Pro288Arg) | ClinVar dbSNP |
21 | g.37490379C>T | CA409947742 | DYRK1A | c.869C>T (p.Pro290Leu) c.755C>T (p.Pro252Leu) c.842C>T (p.Pro281Leu) n.672C>T n.233C>T c.890C>T (p.Pro297Leu) n.284C>T c.782C>T (p.Pro261Leu) c.185C>T (p.Pro62Leu) c.863C>T (p.Pro288Leu) | |
21 | g.37490380T>A | CA512327859 | DYRK1A | c.870T>A (p.Pro290=) c.756T>A (p.Pro252=) c.843T>A (p.Pro281=) n.673T>A n.234T>A c.891T>A (p.Pro297=) n.285T>A c.783T>A (p.Pro261=) c.186T>A (p.Pro62=) c.864T>A (p.Pro288=) | |
21 | g.37490380T>C | CA512327862 | DYRK1A | c.870T>C (p.Pro290=) c.756T>C (p.Pro252=) c.843T>C (p.Pro281=) n.673T>C n.234T>C c.891T>C (p.Pro297=) n.285T>C c.783T>C (p.Pro261=) c.186T>C (p.Pro62=) c.864T>C (p.Pro288=) | |
21 | g.37490380T>G | CA512327861 | DYRK1A | c.870T>G (p.Pro290=) c.756T>G (p.Pro252=) c.843T>G (p.Pro281=) n.673T>G n.234T>G c.891T>G (p.Pro297=) n.285T>G c.783T>G (p.Pro261=) c.186T>G (p.Pro62=) c.864T>G (p.Pro288=) | |
21 | g.37490381G>A | CA409947743 | DYRK1A | c.871G>A (p.Glu291Lys) c.757G>A (p.Glu253Lys) c.844G>A (p.Glu282Lys) n.674G>A n.235G>A c.892G>A (p.Glu298Lys) n.286G>A c.784G>A (p.Glu262Lys) c.187G>A (p.Glu63Lys) c.865G>A (p.Glu289Lys) | COSMIC COSMIC COSMIC |
21 | g.37490381G>C | CA409947744 | DYRK1A | c.871G>C (p.Glu291Gln) c.757G>C (p.Glu253Gln) c.844G>C (p.Glu282Gln) n.674G>C n.235G>C c.892G>C (p.Glu298Gln) n.286G>C c.784G>C (p.Glu262Gln) c.187G>C (p.Glu63Gln) c.865G>C (p.Glu289Gln) | |
21 | g.37490381G= | CA2388495800 | DYRK1A | c.871G= (p.Glu291=) c.757G= (p.Glu253=) c.844G= (p.Glu282=) n.674G= n.235G= c.892G= (p.Glu298=) n.286G= c.784G= (p.Glu262=) c.187G= (p.Glu63=) c.865G= (p.Glu289=) | |
21 | g.37490381G>T | CA409947745 | DYRK1A | c.871G>T (p.Glu291Ter) c.757G>T (p.Glu253Ter) c.844G>T (p.Glu282Ter) n.674G>T n.235G>T c.892G>T (p.Glu298Ter) n.286G>T c.784G>T (p.Glu262Ter) c.187G>T (p.Glu63Ter) c.865G>T (p.Glu289Ter) | dbSNP |
21 | g.37490382A>C | CA409947746 | DYRK1A | c.872A>C (p.Glu291Ala) c.758A>C (p.Glu253Ala) c.845A>C (p.Glu282Ala) n.675A>C n.236A>C c.893A>C (p.Glu298Ala) n.287A>C c.785A>C (p.Glu262Ala) c.188A>C (p.Glu63Ala) c.866A>C (p.Glu289Ala) | |
21 | g.37490382A>G | CA409947747 | DYRK1A | c.872A>G (p.Glu291Gly) c.758A>G (p.Glu253Gly) c.845A>G (p.Glu282Gly) n.675A>G n.236A>G c.893A>G (p.Glu298Gly) n.287A>G c.785A>G (p.Glu262Gly) c.188A>G (p.Glu63Gly) c.866A>G (p.Glu289Gly) | |
21 | g.37490382A>T | CA409947748 | DYRK1A | c.872A>T (p.Glu291Val) c.758A>T (p.Glu253Val) c.845A>T (p.Glu282Val) n.675A>T n.236A>T c.893A>T (p.Glu298Val) n.287A>T c.785A>T (p.Glu262Val) c.188A>T (p.Glu63Val) c.866A>T (p.Glu289Val) | |
21 | g.37490385dup | CA2580098707 | DYRK1A | c.875dup (p.Asn292LysfsTer6) c.761dup (p.Asn254LysfsTer6) c.848dup (p.Asn283LysfsTer6) n.678dup n.239dup c.896dup (p.Asn299LysfsTer6) n.290dup c.788dup (p.Asn263LysfsTer6) c.191dup (p.Asn64LysfsTer6) c.869dup (p.Asn290LysfsTer6) | ClinVar |
21 | g.37490383A= | CA2388495801 | DYRK1A | c.873A= (p.Glu291=) c.759A= (p.Glu253=) c.846A= (p.Glu282=) n.676A= n.237A= c.894A= (p.Glu298=) n.288A= c.786A= (p.Glu262=) c.189A= (p.Glu63=) c.867A= (p.Glu289=) | |
21 | g.37490383A>C | CA409947750 | DYRK1A | c.873A>C (p.Glu291Asp) c.759A>C (p.Glu253Asp) c.846A>C (p.Glu282Asp) n.676A>C n.237A>C c.894A>C (p.Glu298Asp) n.288A>C c.786A>C (p.Glu262Asp) c.189A>C (p.Glu63Asp) c.867A>C (p.Glu289Asp) | |
21 | g.37490383A>G | CA320483540 | DYRK1A | c.873A>G (p.Glu291=) c.759A>G (p.Glu253=) c.846A>G (p.Glu282=) n.676A>G n.237A>G c.894A>G (p.Glu298=) n.288A>G c.786A>G (p.Glu262=) c.189A>G (p.Glu63=) c.867A>G (p.Glu289=) | dbSNP gnomAD v4 |
21 | g.37490383A>T | CA409947749 | DYRK1A | c.873A>T (p.Glu291Asp) c.759A>T (p.Glu253Asp) c.846A>T (p.Glu282Asp) n.676A>T n.237A>T c.894A>T (p.Glu298Asp) n.288A>T c.786A>T (p.Glu262Asp) c.189A>T (p.Glu63Asp) c.867A>T (p.Glu289Asp) | |
21 | g.37490384A>C | CA409947753 | DYRK1A | c.874A>C (p.Asn292His) c.760A>C (p.Asn254His) c.847A>C (p.Asn283His) n.677A>C n.238A>C c.895A>C (p.Asn299His) n.289A>C c.787A>C (p.Asn263His) c.190A>C (p.Asn64His) c.868A>C (p.Asn290His) | |
21 | g.37490384A>G | CA409947751 | DYRK1A | c.874A>G (p.Asn292Asp) c.760A>G (p.Asn254Asp) c.847A>G (p.Asn283Asp) n.677A>G n.238A>G c.895A>G (p.Asn299Asp) n.289A>G c.787A>G (p.Asn263Asp) c.190A>G (p.Asn64Asp) c.868A>G (p.Asn290Asp) | |
21 | g.37490384A>T | CA409947752 | DYRK1A | c.874A>T (p.Asn292Tyr) c.760A>T (p.Asn254Tyr) c.847A>T (p.Asn283Tyr) n.677A>T n.238A>T c.895A>T (p.Asn299Tyr) n.289A>T c.787A>T (p.Asn263Tyr) c.190A>T (p.Asn64Tyr) c.868A>T (p.Asn290Tyr) | |
21 | g.37490385A>C | CA409947754 | DYRK1A | c.875A>C (p.Asn292Thr) c.761A>C (p.Asn254Thr) c.848A>C (p.Asn283Thr) n.678A>C n.239A>C c.896A>C (p.Asn299Thr) n.290A>C c.788A>C (p.Asn263Thr) c.191A>C (p.Asn64Thr) c.869A>C (p.Asn290Thr) | |
21 | g.37490385A>G | CA409947755 | DYRK1A | c.875A>G (p.Asn292Ser) c.761A>G (p.Asn254Ser) c.848A>G (p.Asn283Ser) n.678A>G n.239A>G c.896A>G (p.Asn299Ser) n.290A>G c.788A>G (p.Asn263Ser) c.191A>G (p.Asn64Ser) c.869A>G (p.Asn290Ser) | ClinVar |
21 | g.37490385A>T | CA409947756 | DYRK1A | c.875A>T (p.Asn292Ile) c.761A>T (p.Asn254Ile) c.848A>T (p.Asn283Ile) n.678A>T n.239A>T c.896A>T (p.Asn299Ile) n.290A>T c.788A>T (p.Asn263Ile) c.191A>T (p.Asn64Ile) c.869A>T (p.Asn290Ile) | |
21 | g.37490386T>A | CA409947757 | DYRK1A | c.876T>A (p.Asn292Lys) c.762T>A (p.Asn254Lys) c.849T>A (p.Asn283Lys) n.679T>A n.240T>A c.897T>A (p.Asn299Lys) n.291T>A c.789T>A (p.Asn263Lys) c.192T>A (p.Asn64Lys) c.870T>A (p.Asn290Lys) | |
21 | g.37490386T>C | CA320483545 | DYRK1A | c.876T>C (p.Asn292=) c.762T>C (p.Asn254=) c.849T>C (p.Asn283=) n.679T>C n.240T>C c.897T>C (p.Asn299=) n.291T>C c.789T>C (p.Asn263=) c.192T>C (p.Asn64=) c.870T>C (p.Asn290=) | dbSNP gnomAD v4 |
21 | g.37490386T>G | CA409947758 | DYRK1A | c.876T>G (p.Asn292Lys) c.762T>G (p.Asn254Lys) c.849T>G (p.Asn283Lys) n.679T>G n.240T>G c.897T>G (p.Asn299Lys) n.291T>G c.789T>G (p.Asn263Lys) c.192T>G (p.Asn64Lys) c.870T>G (p.Asn290Lys) | |
21 | g.37490386T= | CA2388495802 | DYRK1A | c.876T= (p.Asn292=) c.762T= (p.Asn254=) c.849T= (p.Asn283=) n.679T= n.240T= c.897T= (p.Asn299=) n.291T= c.789T= (p.Asn263=) c.192T= (p.Asn64=) c.870T= (p.Asn290=) | |
21 | g.37490387A= | CA2388495803 | DYRK1A | c.877A= (p.Ile293=) c.763A= (p.Ile255=) c.850A= (p.Ile284=) n.680A= n.241A= c.898A= (p.Ile300=) n.292A= c.790A= (p.Ile264=) c.193A= (p.Ile65=) c.871A= (p.Ile291=) | |
21 | g.37490387A>C | CA409947759 | DYRK1A | c.877A>C (p.Ile293Leu) c.763A>C (p.Ile255Leu) c.850A>C (p.Ile284Leu) n.680A>C n.241A>C c.898A>C (p.Ile300Leu) n.292A>C c.790A>C (p.Ile264Leu) c.193A>C (p.Ile65Leu) c.871A>C (p.Ile291Leu) | |
21 | g.37490387A>G | CA409947760 | DYRK1A | c.877A>G (p.Ile293Val) c.763A>G (p.Ile255Val) c.850A>G (p.Ile284Val) n.680A>G n.241A>G c.898A>G (p.Ile300Val) n.292A>G c.790A>G (p.Ile264Val) c.193A>G (p.Ile65Val) c.871A>G (p.Ile291Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.37490387A>T | CA409947761 | DYRK1A | c.877A>T (p.Ile293Phe) c.763A>T (p.Ile255Phe) c.850A>T (p.Ile284Phe) n.680A>T n.241A>T c.898A>T (p.Ile300Phe) n.292A>T c.790A>T (p.Ile264Phe) c.193A>T (p.Ile65Phe) c.871A>T (p.Ile291Phe) | |
21 | g.37490388T>A | CA409947762 | DYRK1A | c.878T>A (p.Ile293Asn) c.764T>A (p.Ile255Asn) c.851T>A (p.Ile284Asn) n.681T>A n.242T>A c.899T>A (p.Ile300Asn) n.293T>A c.791T>A (p.Ile264Asn) c.194T>A (p.Ile65Asn) c.872T>A (p.Ile291Asn) | |
21 | g.37490388T>C | CA409947763 | DYRK1A | c.878T>C (p.Ile293Thr) c.764T>C (p.Ile255Thr) c.851T>C (p.Ile284Thr) n.681T>C n.242T>C c.899T>C (p.Ile300Thr) n.293T>C c.791T>C (p.Ile264Thr) c.194T>C (p.Ile65Thr) c.872T>C (p.Ile291Thr) | ClinVar |
21 | g.37490388T>G | CA409947764 | DYRK1A | c.878T>G (p.Ile293Ser) c.764T>G (p.Ile255Ser) c.851T>G (p.Ile284Ser) n.681T>G n.242T>G c.899T>G (p.Ile300Ser) n.293T>G c.791T>G (p.Ile264Ser) c.194T>G (p.Ile65Ser) c.872T>G (p.Ile291Ser) | |
21 | g.37490389C>A | CA320483550 | DYRK1A | c.879C>A (p.Ile293=) c.765C>A (p.Ile255=) c.852C>A (p.Ile284=) n.682C>A n.243C>A c.900C>A (p.Ile300=) n.294C>A c.792C>A (p.Ile264=) c.195C>A (p.Ile65=) c.873C>A (p.Ile291=) | ClinVar dbSNP |
21 | g.37490389C= | CA2388495804 | DYRK1A | c.879C= (p.Ile293=) c.765C= (p.Ile255=) c.852C= (p.Ile284=) n.682C= n.243C= c.900C= (p.Ile300=) n.294C= c.792C= (p.Ile264=) c.195C= (p.Ile65=) c.873C= (p.Ile291=) | |
21 | g.37490389C>G | CA409947765 | DYRK1A | c.879C>G (p.Ile293Met) c.765C>G (p.Ile255Met) c.852C>G (p.Ile284Met) n.682C>G n.243C>G c.900C>G (p.Ile300Met) n.294C>G c.792C>G (p.Ile264Met) c.195C>G (p.Ile65Met) c.873C>G (p.Ile291Met) | |
21 | g.37490389C>T | CA512327873 | DYRK1A | c.879C>T (p.Ile293=) c.765C>T (p.Ile255=) c.852C>T (p.Ile284=) n.682C>T n.243C>T c.900C>T (p.Ile300=) n.294C>T c.792C>T (p.Ile264=) c.195C>T (p.Ile65=) c.873C>T (p.Ile291=) | |
21 | g.37490390C>A | CA409947766 | DYRK1A | c.880C>A (p.Leu294Ile) c.766C>A (p.Leu256Ile) c.853C>A (p.Leu285Ile) n.683C>A n.244C>A c.901C>A (p.Leu301Ile) n.295C>A c.793C>A (p.Leu265Ile) c.196C>A (p.Leu66Ile) c.874C>A (p.Leu292Ile) | ClinVar |
21 | g.37490390C>G | CA409947767 | DYRK1A | c.880C>G (p.Leu294Val) c.766C>G (p.Leu256Val) c.853C>G (p.Leu285Val) n.683C>G n.244C>G c.901C>G (p.Leu301Val) n.295C>G c.793C>G (p.Leu265Val) c.196C>G (p.Leu66Val) c.874C>G (p.Leu292Val) | |
21 | g.37490390C>T | CA409947768 | DYRK1A | c.880C>T (p.Leu294Phe) c.766C>T (p.Leu256Phe) c.853C>T (p.Leu285Phe) n.683C>T n.244C>T c.901C>T (p.Leu301Phe) n.295C>T c.793C>T (p.Leu265Phe) c.196C>T (p.Leu66Phe) c.874C>T (p.Leu292Phe) | COSMIC COSMIC COSMIC |
21 | g.37490393_37490395del | CA645608576 | DYRK1A | c.883_885del (p.Leu295del) c.769_771del (p.Leu257del) c.856_858del (p.Leu286del) n.686_688del n.247_249del c.904_906del (p.Leu302del) n.298_300del c.796_798del (p.Leu266del) c.199_201del (p.Leu67del) c.877_879del (p.Leu293del) | COSMIC COSMIC |
21 | g.37490391T>A | CA409947769 | DYRK1A | c.881T>A (p.Leu294His) c.767T>A (p.Leu256His) c.854T>A (p.Leu285His) n.684T>A n.245T>A c.902T>A (p.Leu301His) n.296T>A c.794T>A (p.Leu265His) c.197T>A (p.Leu66His) c.875T>A (p.Leu292His) | |
21 | g.37490391T>C | CA409947770 | DYRK1A | c.881T>C (p.Leu294Pro) c.767T>C (p.Leu256Pro) c.854T>C (p.Leu285Pro) n.684T>C n.245T>C c.902T>C (p.Leu301Pro) n.296T>C c.794T>C (p.Leu265Pro) c.197T>C (p.Leu66Pro) c.875T>C (p.Leu292Pro) | |
21 | g.37490391T>G | CA409947771 | DYRK1A | c.881T>G (p.Leu294Arg) c.767T>G (p.Leu256Arg) c.854T>G (p.Leu285Arg) n.684T>G n.245T>G c.902T>G (p.Leu301Arg) n.296T>G c.794T>G (p.Leu265Arg) c.197T>G (p.Leu66Arg) c.875T>G (p.Leu292Arg) | |
21 | g.37490392T>A | CA512327877 | DYRK1A | c.882T>A (p.Leu294=) c.768T>A (p.Leu256=) c.855T>A (p.Leu285=) n.685T>A n.246T>A c.903T>A (p.Leu301=) n.297T>A c.795T>A (p.Leu265=) c.198T>A (p.Leu66=) c.876T>A (p.Leu292=) | |
21 | g.37490392T>C | CA10023862 | DYRK1A | c.882T>C (p.Leu294=) c.768T>C (p.Leu256=) c.855T>C (p.Leu285=) n.685T>C n.246T>C c.903T>C (p.Leu301=) n.297T>C c.795T>C (p.Leu265=) c.198T>C (p.Leu66=) c.876T>C (p.Leu292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37490392T>G | CA512327878 | DYRK1A | c.882T>G (p.Leu294=) c.768T>G (p.Leu256=) c.855T>G (p.Leu285=) n.685T>G n.246T>G c.903T>G (p.Leu301=) n.297T>G c.795T>G (p.Leu265=) c.198T>G (p.Leu66=) c.876T>G (p.Leu292=) | |
21 | g.37490392T= | CA2388495805 | DYRK1A | c.882T= (p.Leu294=) c.768T= (p.Leu256=) c.855T= (p.Leu285=) n.685T= n.246T= c.903T= (p.Leu301=) n.297T= c.795T= (p.Leu265=) c.198T= (p.Leu66=) c.876T= (p.Leu292=) | |
21 | g.37490393C>A | CA409947772 | DYRK1A | c.883C>A (p.Leu295Ile) c.769C>A (p.Leu257Ile) c.856C>A (p.Leu286Ile) n.686C>A n.247C>A c.904C>A (p.Leu302Ile) n.298C>A c.796C>A (p.Leu266Ile) c.199C>A (p.Leu67Ile) c.877C>A (p.Leu293Ile) | |
21 | g.37490393C= | CA2388495806 | DYRK1A | c.883C= (p.Leu295=) c.769C= (p.Leu257=) c.856C= (p.Leu286=) n.686C= n.247C= c.904C= (p.Leu302=) n.298C= c.796C= (p.Leu266=) c.199C= (p.Leu67=) c.877C= (p.Leu293=) | |
21 | g.37490393C>G | CA409947773 | DYRK1A | c.883C>G (p.Leu295Val) c.769C>G (p.Leu257Val) c.856C>G (p.Leu286Val) n.686C>G n.247C>G c.904C>G (p.Leu302Val) n.298C>G c.796C>G (p.Leu266Val) c.199C>G (p.Leu67Val) c.877C>G (p.Leu293Val) | |
21 | g.37490393C>T | CA278535 | DYRK1A | c.883C>T (p.Leu295Phe) c.769C>T (p.Leu257Phe) c.856C>T (p.Leu286Phe) n.686C>T n.247C>T c.904C>T (p.Leu302Phe) n.298C>T c.796C>T (p.Leu266Phe) c.199C>T (p.Leu67Phe) c.877C>T (p.Leu293Phe) | ClinVar dbSNP |
21 | g.37490394T>A | CA409947774 | DYRK1A | c.884T>A (p.Leu295His) c.770T>A (p.Leu257His) c.857T>A (p.Leu286His) n.687T>A n.248T>A c.905T>A (p.Leu302His) n.299T>A c.797T>A (p.Leu266His) c.200T>A (p.Leu67His) c.878T>A (p.Leu293His) | |
21 | g.37490394T>C | CA409947775 | DYRK1A | c.884T>C (p.Leu295Pro) c.770T>C (p.Leu257Pro) c.857T>C (p.Leu286Pro) n.687T>C n.248T>C c.905T>C (p.Leu302Pro) n.299T>C c.797T>C (p.Leu266Pro) c.200T>C (p.Leu67Pro) c.878T>C (p.Leu293Pro) | |
21 | g.37490394T>G | CA409947776 | DYRK1A | c.884T>G (p.Leu295Arg) c.770T>G (p.Leu257Arg) c.857T>G (p.Leu286Arg) n.687T>G n.248T>G c.905T>G (p.Leu302Arg) n.299T>G c.797T>G (p.Leu266Arg) c.200T>G (p.Leu67Arg) c.878T>G (p.Leu293Arg) | |
21 | g.37490395T>A | CA512327884 | DYRK1A | c.885T>A (p.Leu295=) c.771T>A (p.Leu257=) c.858T>A (p.Leu286=) n.688T>A n.249T>A c.906T>A (p.Leu302=) n.300T>A c.798T>A (p.Leu266=) c.201T>A (p.Leu67=) c.879T>A (p.Leu293=) | |
21 | g.37490395T>C | CA512327882 | DYRK1A | c.885T>C (p.Leu295=) c.771T>C (p.Leu257=) c.858T>C (p.Leu286=) n.688T>C n.249T>C c.906T>C (p.Leu302=) n.300T>C c.798T>C (p.Leu266=) c.201T>C (p.Leu67=) c.879T>C (p.Leu293=) | |
21 | g.37490395T>G | CA512327883 | DYRK1A | c.885T>G (p.Leu295=) c.771T>G (p.Leu257=) c.858T>G (p.Leu286=) n.688T>G n.249T>G c.906T>G (p.Leu302=) n.300T>G c.798T>G (p.Leu266=) c.201T>G (p.Leu67=) c.879T>G (p.Leu293=) | |
21 | g.37490396_37490398del | CA645608577 | DYRK1A | c.886_888del (p.Cys296del) c.772_774del (p.Cys258del) c.859_861del (p.Cys287del) n.689_691del n.250_252del c.907_909del (p.Cys303del) n.301_303del c.799_801del (p.Cys267del) c.202_204del (p.Cys68del) c.880_882del (p.Cys294del) | COSMIC COSMIC COSMIC |
21 | g.37490396T>A | CA409947777 | DYRK1A | c.886T>A (p.Cys296Ser) c.772T>A (p.Cys258Ser) c.859T>A (p.Cys287Ser) n.689T>A n.250T>A c.907T>A (p.Cys303Ser) n.301T>A c.799T>A (p.Cys267Ser) c.202T>A (p.Cys68Ser) c.880T>A (p.Cys294Ser) | |
21 | g.37490396T>C | CA409947779 | DYRK1A | c.886T>C (p.Cys296Arg) c.772T>C (p.Cys258Arg) c.859T>C (p.Cys287Arg) n.689T>C n.250T>C c.907T>C (p.Cys303Arg) n.301T>C c.799T>C (p.Cys267Arg) c.202T>C (p.Cys68Arg) c.880T>C (p.Cys294Arg) | |
21 | g.37490396T>G | CA409947778 | DYRK1A | c.886T>G (p.Cys296Gly) c.772T>G (p.Cys258Gly) c.859T>G (p.Cys287Gly) n.689T>G n.250T>G c.907T>G (p.Cys303Gly) n.301T>G c.799T>G (p.Cys267Gly) c.202T>G (p.Cys68Gly) c.880T>G (p.Cys294Gly) | |
21 | g.37490397G>A | CA409947780 | DYRK1A | c.887G>A (p.Cys296Tyr) c.773G>A (p.Cys258Tyr) c.860G>A (p.Cys287Tyr) n.690G>A n.251G>A c.908G>A (p.Cys303Tyr) n.302G>A c.800G>A (p.Cys267Tyr) c.203G>A (p.Cys68Tyr) c.881G>A (p.Cys294Tyr) | |
21 | g.37490397G>C | CA409947781 | DYRK1A | c.887G>C (p.Cys296Ser) c.773G>C (p.Cys258Ser) c.860G>C (p.Cys287Ser) n.690G>C n.251G>C c.908G>C (p.Cys303Ser) n.302G>C c.800G>C (p.Cys267Ser) c.203G>C (p.Cys68Ser) c.881G>C (p.Cys294Ser) | |
21 | g.37490397G>T | CA409947782 | DYRK1A | c.887G>T (p.Cys296Phe) c.773G>T (p.Cys258Phe) c.860G>T (p.Cys287Phe) n.690G>T n.251G>T c.908G>T (p.Cys303Phe) n.302G>T c.800G>T (p.Cys267Phe) c.203G>T (p.Cys68Phe) c.881G>T (p.Cys294Phe) | |
21 | g.37490398T>A | CA409947783 | DYRK1A | c.888T>A (p.Cys296Ter) c.774T>A (p.Cys258Ter) c.861T>A (p.Cys287Ter) n.691T>A n.252T>A c.909T>A (p.Cys303Ter) n.303T>A c.801T>A (p.Cys267Ter) c.204T>A (p.Cys68Ter) c.882T>A (p.Cys294Ter) | dbSNP |
21 | g.37490398T>C | CA512327888 | DYRK1A | c.888T>C (p.Cys296=) c.774T>C (p.Cys258=) c.861T>C (p.Cys287=) n.691T>C n.252T>C c.909T>C (p.Cys303=) n.303T>C c.801T>C (p.Cys267=) c.204T>C (p.Cys68=) c.882T>C (p.Cys294=) | |
21 | g.37490398T>G | CA409947784 | DYRK1A | c.888T>G (p.Cys296Trp) c.774T>G (p.Cys258Trp) c.861T>G (p.Cys287Trp) n.691T>G n.252T>G c.909T>G (p.Cys303Trp) n.303T>G c.801T>G (p.Cys267Trp) c.204T>G (p.Cys68Trp) c.882T>G (p.Cys294Trp) | |
21 | g.37490398T= | CA2388495807 | DYRK1A | c.888T= (p.Cys296=) c.774T= (p.Cys258=) c.861T= (p.Cys287=) n.691T= n.252T= c.909T= (p.Cys303=) n.303T= c.801T= (p.Cys267=) c.204T= (p.Cys68=) c.882T= (p.Cys294=) | |
21 | g.37490399A>C | CA409947785 | DYRK1A | c.889A>C (p.Asn297His) c.775A>C (p.Asn259His) c.862A>C (p.Asn288His) n.692A>C n.253A>C c.910A>C (p.Asn304His) n.304A>C c.802A>C (p.Asn268His) c.205A>C (p.Asn69His) c.883A>C (p.Asn295His) | |
21 | g.37490399A>G | CA409947786 | DYRK1A | c.889A>G (p.Asn297Asp) c.775A>G (p.Asn259Asp) c.862A>G (p.Asn288Asp) n.692A>G n.253A>G c.910A>G (p.Asn304Asp) n.304A>G c.802A>G (p.Asn268Asp) c.205A>G (p.Asn69Asp) c.883A>G (p.Asn295Asp) | |
21 | g.37490399A>T | CA409947787 | DYRK1A | c.889A>T (p.Asn297Tyr) c.775A>T (p.Asn259Tyr) c.862A>T (p.Asn288Tyr) n.692A>T n.253A>T c.910A>T (p.Asn304Tyr) n.304A>T c.802A>T (p.Asn268Tyr) c.205A>T (p.Asn69Tyr) c.883A>T (p.Asn295Tyr) | |
21 | g.37490400A>C | CA409947788 | DYRK1A | c.890A>C (p.Asn297Thr) c.776A>C (p.Asn259Thr) c.863A>C (p.Asn288Thr) n.693A>C n.254A>C c.911A>C (p.Asn304Thr) n.305A>C c.803A>C (p.Asn268Thr) c.206A>C (p.Asn69Thr) c.884A>C (p.Asn295Thr) | |
21 | g.37490400A>G | CA409947789 | DYRK1A | c.890A>G (p.Asn297Ser) c.776A>G (p.Asn259Ser) c.863A>G (p.Asn288Ser) n.693A>G n.254A>G c.911A>G (p.Asn304Ser) n.305A>G c.803A>G (p.Asn268Ser) c.206A>G (p.Asn69Ser) c.884A>G (p.Asn295Ser) | |
21 | g.37490400A>T | CA409947790 | DYRK1A | c.890A>T (p.Asn297Ile) c.776A>T (p.Asn259Ile) c.863A>T (p.Asn288Ile) n.693A>T n.254A>T c.911A>T (p.Asn304Ile) n.305A>T c.803A>T (p.Asn268Ile) c.206A>T (p.Asn69Ile) c.884A>T (p.Asn295Ile) | |
21 | g.37490401C>A | CA409947791 | DYRK1A | c.891C>A (p.Asn297Lys) c.777C>A (p.Asn259Lys) c.864C>A (p.Asn288Lys) n.694C>A n.255C>A c.912C>A (p.Asn304Lys) n.306C>A c.804C>A (p.Asn268Lys) c.207C>A (p.Asn69Lys) c.885C>A (p.Asn295Lys) | |
21 | g.37490401C= | CA2388495808 | DYRK1A | c.891C= (p.Asn297=) c.777C= (p.Asn259=) c.864C= (p.Asn288=) n.694C= n.255C= c.912C= (p.Asn304=) n.306C= c.804C= (p.Asn268=) c.207C= (p.Asn69=) c.885C= (p.Asn295=) | |
21 | g.37490401C>G | CA409947792 | DYRK1A | c.891C>G (p.Asn297Lys) c.777C>G (p.Asn259Lys) c.864C>G (p.Asn288Lys) n.694C>G n.255C>G c.912C>G (p.Asn304Lys) n.306C>G c.804C>G (p.Asn268Lys) c.207C>G (p.Asn69Lys) c.885C>G (p.Asn295Lys) | |
21 | g.37490401C>T | CA512327893 | DYRK1A | c.891C>T (p.Asn297=) c.777C>T (p.Asn259=) c.864C>T (p.Asn288=) n.694C>T n.255C>T c.912C>T (p.Asn304=) n.306C>T c.804C>T (p.Asn268=) c.207C>T (p.Asn69=) c.885C>T (p.Asn295=) | dbSNP gnomAD v4 |
21 | g.37490402C>A | CA409947793 | DYRK1A | c.892C>A (p.Pro298Thr) c.778C>A (p.Pro260Thr) c.865C>A (p.Pro289Thr) n.695C>A n.256C>A c.913C>A (p.Pro305Thr) n.307C>A c.805C>A (p.Pro269Thr) c.208C>A (p.Pro70Thr) c.886C>A (p.Pro296Thr) | gnomAD v4 |
21 | g.37490402C>G | CA409947795 | DYRK1A | c.892C>G (p.Pro298Ala) c.778C>G (p.Pro260Ala) c.865C>G (p.Pro289Ala) n.695C>G n.256C>G c.913C>G (p.Pro305Ala) n.307C>G c.805C>G (p.Pro269Ala) c.208C>G (p.Pro70Ala) c.886C>G (p.Pro296Ala) | |
21 | g.37490402C>T | CA409947794 | DYRK1A | c.892C>T (p.Pro298Ser) c.778C>T (p.Pro260Ser) c.865C>T (p.Pro289Ser) n.695C>T n.256C>T c.913C>T (p.Pro305Ser) n.307C>T c.805C>T (p.Pro269Ser) c.208C>T (p.Pro70Ser) c.886C>T (p.Pro296Ser) | |
21 | g.37490403C>A | CA409947796 | DYRK1A | c.893C>A (p.Pro298His) c.779C>A (p.Pro260His) c.866C>A (p.Pro289His) n.696C>A n.257C>A c.914C>A (p.Pro305His) n.308C>A c.806C>A (p.Pro269His) c.209C>A (p.Pro70His) c.887C>A (p.Pro296His) | |
21 | g.37490403C>G | CA409947797 | DYRK1A | c.893C>G (p.Pro298Arg) c.779C>G (p.Pro260Arg) c.866C>G (p.Pro289Arg) n.696C>G n.257C>G c.914C>G (p.Pro305Arg) n.308C>G c.806C>G (p.Pro269Arg) c.209C>G (p.Pro70Arg) c.887C>G (p.Pro296Arg) | |
21 | g.37490403C>T | CA409947798 | DYRK1A | c.893C>T (p.Pro298Leu) c.779C>T (p.Pro260Leu) c.866C>T (p.Pro289Leu) n.696C>T n.257C>T c.914C>T (p.Pro305Leu) n.308C>T c.806C>T (p.Pro269Leu) c.209C>T (p.Pro70Leu) c.887C>T (p.Pro296Leu) | |
21 | g.37490404C>A | CA512327896 | DYRK1A | c.894C>A (p.Pro298=) c.780C>A (p.Pro260=) c.867C>A (p.Pro289=) n.697C>A n.258C>A c.915C>A (p.Pro305=) n.309C>A c.807C>A (p.Pro269=) c.210C>A (p.Pro70=) c.888C>A (p.Pro296=) | |
21 | g.37490404C= | CA2388495809 | DYRK1A | c.894C= (p.Pro298=) c.780C= (p.Pro260=) c.867C= (p.Pro289=) n.697C= n.258C= c.915C= (p.Pro305=) n.309C= c.807C= (p.Pro269=) c.210C= (p.Pro70=) c.888C= (p.Pro296=) | |
21 | g.37490404C>G | CA512327897 | DYRK1A | c.894C>G (p.Pro298=) c.780C>G (p.Pro260=) c.867C>G (p.Pro289=) n.697C>G n.258C>G c.915C>G (p.Pro305=) n.309C>G c.807C>G (p.Pro269=) c.210C>G (p.Pro70=) c.888C>G (p.Pro296=) | gnomAD v4 |
21 | g.37490404C>T | CA10023863 | DYRK1A | c.894C>T (p.Pro298=) c.780C>T (p.Pro260=) c.867C>T (p.Pro289=) n.697C>T n.258C>T c.915C>T (p.Pro305=) n.309C>T c.807C>T (p.Pro269=) c.210C>T (p.Pro70=) c.888C>T (p.Pro296=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37490405A>C | CA409947799 | DYRK1A | c.895A>C (p.Lys299Gln) c.781A>C (p.Lys261Gln) c.868A>C (p.Lys290Gln) n.698A>C n.259A>C c.916A>C (p.Lys306Gln) n.310A>C c.808A>C (p.Lys270Gln) c.211A>C (p.Lys71Gln) c.889A>C (p.Lys297Gln) | |
21 | g.37490405A>G | CA409947800 | DYRK1A | c.895A>G (p.Lys299Glu) c.781A>G (p.Lys261Glu) c.868A>G (p.Lys290Glu) n.698A>G n.259A>G c.916A>G (p.Lys306Glu) n.310A>G c.808A>G (p.Lys270Glu) c.211A>G (p.Lys71Glu) c.889A>G (p.Lys297Glu) | |
21 | g.37490405A>T | CA409947801 | DYRK1A | c.895A>T (p.Lys299Ter) c.781A>T (p.Lys261Ter) c.868A>T (p.Lys290Ter) n.698A>T n.259A>T c.916A>T (p.Lys306Ter) n.310A>T c.808A>T (p.Lys270Ter) c.211A>T (p.Lys71Ter) c.889A>T (p.Lys297Ter) | |
21 | g.37490406A= | CA2388495810 | DYRK1A | c.896A= (p.Lys299=) c.782A= (p.Lys261=) c.869A= (p.Lys290=) n.699A= n.260A= c.917A= (p.Lys306=) n.311A= c.809A= (p.Lys270=) c.212A= (p.Lys71=) c.890A= (p.Lys297=) | |
21 | g.37490406A>C | CA409947802 | DYRK1A | c.896A>C (p.Lys299Thr) c.782A>C (p.Lys261Thr) c.869A>C (p.Lys290Thr) n.699A>C n.260A>C c.917A>C (p.Lys306Thr) n.311A>C c.809A>C (p.Lys270Thr) c.212A>C (p.Lys71Thr) c.890A>C (p.Lys297Thr) | |
21 | g.37490406A>G | CA320483557 | DYRK1A | c.896A>G (p.Lys299Arg) c.782A>G (p.Lys261Arg) c.869A>G (p.Lys290Arg) n.699A>G n.260A>G c.917A>G (p.Lys306Arg) n.311A>G c.809A>G (p.Lys270Arg) c.212A>G (p.Lys71Arg) c.890A>G (p.Lys297Arg) | dbSNP gnomAD v4 |
21 | g.37490406A>T | CA409947803 | DYRK1A | c.896A>T (p.Lys299Ile) c.782A>T (p.Lys261Ile) c.869A>T (p.Lys290Ile) n.699A>T n.260A>T c.917A>T (p.Lys306Ile) n.311A>T c.809A>T (p.Lys270Ile) c.212A>T (p.Lys71Ile) c.890A>T (p.Lys297Ile) | |
21 | g.37490408_37490409insACACCCAAC | CA2817845507 | DYRK1A | c.898_899insACACCCAAC (p.Lys299_Arg300insHisThrGln) c.784_785insACACCCAAC (p.Lys261_Arg262insHisThrGln) c.871_872insACACCCAAC (p.Lys290_Arg291insHisThrGln) n.701_702insACACCCAAC n.262_263insACACCCAAC c.919_920insACACCCAAC (p.Lys306_Arg307insHisThrGln) n.313_314insACACCCAAC c.811_812insACACCCAAC (p.Lys270_Arg271insHisThrGln) c.214_215insACACCCAAC (p.Lys71_Arg72insHisThrGln) c.892_893insACACCCAAC (p.Lys297_Arg298insHisThrGln) | |
21 | g.37490407A= | CA2388495811 | DYRK1A | c.897A= (p.Lys299=) c.783A= (p.Lys261=) c.870A= (p.Lys290=) n.700A= n.261A= c.918A= (p.Lys306=) n.312A= c.810A= (p.Lys270=) c.213A= (p.Lys71=) c.891A= (p.Lys297=) | |
21 | g.37490407A>C | CA409947805 | DYRK1A | c.897A>C (p.Lys299Asn) c.783A>C (p.Lys261Asn) c.870A>C (p.Lys290Asn) n.700A>C n.261A>C c.918A>C (p.Lys306Asn) n.312A>C c.810A>C (p.Lys270Asn) c.213A>C (p.Lys71Asn) c.891A>C (p.Lys297Asn) | |
21 | g.37490407A>G | CA10023864 | DYRK1A | c.897A>G (p.Lys299=) c.783A>G (p.Lys261=) c.870A>G (p.Lys290=) n.700A>G n.261A>G c.918A>G (p.Lys306=) n.312A>G c.810A>G (p.Lys270=) c.213A>G (p.Lys71=) c.891A>G (p.Lys297=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37490407A>T | CA409947804 | DYRK1A | c.897A>T (p.Lys299Asn) c.783A>T (p.Lys261Asn) c.870A>T (p.Lys290Asn) n.700A>T n.261A>T c.918A>T (p.Lys306Asn) n.312A>T c.810A>T (p.Lys270Asn) c.213A>T (p.Lys71Asn) c.891A>T (p.Lys297Asn) | |
21 | g.37490408C>A | CA409947806 | DYRK1A | c.898C>A (p.Arg300Ser) c.784C>A (p.Arg262Ser) c.871C>A (p.Arg291Ser) n.701C>A n.262C>A c.919C>A (p.Arg307Ser) n.313C>A c.811C>A (p.Arg271Ser) c.214C>A (p.Arg72Ser) c.892C>A (p.Arg298Ser) | |
21 | g.37490408C= | CA2388495812 | DYRK1A | c.898C= (p.Arg300=) c.784C= (p.Arg262=) c.871C= (p.Arg291=) n.701C= n.262C= c.919C= (p.Arg307=) n.313C= c.811C= (p.Arg271=) c.214C= (p.Arg72=) c.892C= (p.Arg298=) | |
21 | g.37490408C>G | CA409947807 | DYRK1A | c.898C>G (p.Arg300Gly) c.784C>G (p.Arg262Gly) c.871C>G (p.Arg291Gly) n.701C>G n.262C>G c.919C>G (p.Arg307Gly) n.313C>G c.811C>G (p.Arg271Gly) c.214C>G (p.Arg72Gly) c.892C>G (p.Arg298Gly) | |
21 | g.37490408C>T | CA409947808 | DYRK1A | c.898C>T (p.Arg300Cys) c.784C>T (p.Arg262Cys) c.871C>T (p.Arg291Cys) n.701C>T n.262C>T c.919C>T (p.Arg307Cys) n.313C>T c.811C>T (p.Arg271Cys) c.214C>T (p.Arg72Cys) c.892C>T (p.Arg298Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
21 | g.37490409G>A | CA409947809 | DYRK1A | c.899G>A (p.Arg300His) c.785G>A (p.Arg262His) c.872G>A (p.Arg291His) n.702G>A n.263G>A c.920G>A (p.Arg307His) n.314G>A c.812G>A (p.Arg271His) c.215G>A (p.Arg72His) c.893G>A (p.Arg298His) | ClinVar COSMIC COSMIC |
21 | g.37490409G>C | CA409947810 | DYRK1A | c.899G>C (p.Arg300Pro) c.785G>C (p.Arg262Pro) c.872G>C (p.Arg291Pro) n.702G>C n.263G>C c.920G>C (p.Arg307Pro) n.314G>C c.812G>C (p.Arg271Pro) c.215G>C (p.Arg72Pro) c.893G>C (p.Arg298Pro) | COSMIC COSMIC COSMIC |
21 | g.37490409G>T | CA409947811 | DYRK1A | c.899G>T (p.Arg300Leu) c.785G>T (p.Arg262Leu) c.872G>T (p.Arg291Leu) n.702G>T n.263G>T c.920G>T (p.Arg307Leu) n.314G>T c.812G>T (p.Arg271Leu) c.215G>T (p.Arg72Leu) c.893G>T (p.Arg298Leu) | |
21 | g.37490410C>A | CA512327902 | DYRK1A | c.900C>A (p.Arg300=) c.786C>A (p.Arg262=) c.873C>A (p.Arg291=) n.703C>A n.264C>A c.921C>A (p.Arg307=) n.315C>A c.813C>A (p.Arg271=) c.216C>A (p.Arg72=) c.894C>A (p.Arg298=) | |
21 | g.37490410C= | CA2388495813 | DYRK1A | c.900C= (p.Arg300=) c.786C= (p.Arg262=) c.873C= (p.Arg291=) n.703C= n.264C= c.921C= (p.Arg307=) n.315C= c.813C= (p.Arg271=) c.216C= (p.Arg72=) c.894C= (p.Arg298=) | |
21 | g.37490410C>G | CA512327903 | DYRK1A | c.900C>G (p.Arg300=) c.786C>G (p.Arg262=) c.873C>G (p.Arg291=) n.703C>G n.264C>G c.921C>G (p.Arg307=) n.315C>G c.813C>G (p.Arg271=) c.216C>G (p.Arg72=) c.894C>G (p.Arg298=) | |
21 | g.37490410C>T | CA512327904 | DYRK1A | c.900C>T (p.Arg300=) c.786C>T (p.Arg262=) c.873C>T (p.Arg291=) n.703C>T n.264C>T c.921C>T (p.Arg307=) n.315C>T c.813C>T (p.Arg271=) c.216C>T (p.Arg72=) c.894C>T (p.Arg298=) | dbSNP gnomAD v2 |
21 | g.37490411A>C | CA409947814 | DYRK1A | c.901A>C (p.Ser301Arg) c.787A>C (p.Ser263Arg) c.874A>C (p.Ser292Arg) n.704A>C n.265A>C c.922A>C (p.Ser308Arg) n.316A>C c.814A>C (p.Ser272Arg) c.217A>C (p.Ser73Arg) c.895A>C (p.Ser299Arg) | |
21 | g.37490411A>G | CA409947812 | DYRK1A | c.901A>G (p.Ser301Gly) c.787A>G (p.Ser263Gly) c.874A>G (p.Ser292Gly) n.704A>G n.265A>G c.922A>G (p.Ser308Gly) n.316A>G c.814A>G (p.Ser272Gly) c.217A>G (p.Ser73Gly) c.895A>G (p.Ser299Gly) | |
21 | g.37490411A>T | CA409947813 | DYRK1A | c.901A>T (p.Ser301Cys) c.787A>T (p.Ser263Cys) c.874A>T (p.Ser292Cys) n.704A>T n.265A>T c.922A>T (p.Ser308Cys) n.316A>T c.814A>T (p.Ser272Cys) c.217A>T (p.Ser73Cys) c.895A>T (p.Ser299Cys) | |
21 | g.37490412G>A | CA409947815 | DYRK1A | c.902G>A (p.Ser301Asn) c.788G>A (p.Ser263Asn) c.875G>A (p.Ser292Asn) n.705G>A n.266G>A c.923G>A (p.Ser308Asn) n.317G>A c.815G>A (p.Ser272Asn) c.218G>A (p.Ser73Asn) c.896G>A (p.Ser299Asn) | |
21 | g.37490412G>C | CA409947816 | DYRK1A | c.902G>C (p.Ser301Thr) c.788G>C (p.Ser263Thr) c.875G>C (p.Ser292Thr) n.705G>C n.266G>C c.923G>C (p.Ser308Thr) n.317G>C c.815G>C (p.Ser272Thr) c.218G>C (p.Ser73Thr) c.896G>C (p.Ser299Thr) | |
21 | g.37490412G>T | CA409947817 | DYRK1A | c.902G>T (p.Ser301Ile) c.788G>T (p.Ser263Ile) c.875G>T (p.Ser292Ile) n.705G>T n.266G>T c.923G>T (p.Ser308Ile) n.317G>T c.815G>T (p.Ser272Ile) c.218G>T (p.Ser73Ile) c.896G>T (p.Ser299Ile) | |
21 | g.37490413T>A | CA409947818 | DYRK1A | c.903T>A (p.Ser301Arg) c.789T>A (p.Ser263Arg) c.876T>A (p.Ser292Arg) n.706T>A n.267T>A c.924T>A (p.Ser308Arg) n.318T>A c.816T>A (p.Ser272Arg) c.219T>A (p.Ser73Arg) c.897T>A (p.Ser299Arg) | |
21 | g.37490413T>C | CA512327907 | DYRK1A | c.903T>C (p.Ser301=) c.789T>C (p.Ser263=) c.876T>C (p.Ser292=) n.706T>C n.267T>C c.924T>C (p.Ser308=) n.318T>C c.816T>C (p.Ser272=) c.219T>C (p.Ser73=) c.897T>C (p.Ser299=) | |
21 | g.37490413T>G | CA409947819 | DYRK1A | c.903T>G (p.Ser301Arg) c.789T>G (p.Ser263Arg) c.876T>G (p.Ser292Arg) n.706T>G n.267T>G c.924T>G (p.Ser308Arg) n.318T>G c.816T>G (p.Ser272Arg) c.219T>G (p.Ser73Arg) c.897T>G (p.Ser299Arg) | |
21 | g.37490414G>A | CA409947822 | DYRK1A | c.904G>A (p.Ala302Thr) c.790G>A (p.Ala264Thr) c.877G>A (p.Ala293Thr) n.707G>A n.268G>A c.925G>A (p.Ala309Thr) n.319G>A c.817G>A (p.Ala273Thr) c.220G>A (p.Ala74Thr) c.898G>A (p.Ala300Thr) | |
21 | g.37490414G>C | CA409947820 | DYRK1A | c.904G>C (p.Ala302Pro) c.790G>C (p.Ala264Pro) c.877G>C (p.Ala293Pro) n.707G>C n.268G>C c.925G>C (p.Ala309Pro) n.319G>C c.817G>C (p.Ala273Pro) c.220G>C (p.Ala74Pro) c.898G>C (p.Ala300Pro) | |
21 | g.37490414G>T | CA409947821 | DYRK1A | c.904G>T (p.Ala302Ser) c.790G>T (p.Ala264Ser) c.877G>T (p.Ala293Ser) n.707G>T n.268G>T c.925G>T (p.Ala309Ser) n.319G>T c.817G>T (p.Ala273Ser) c.220G>T (p.Ala74Ser) c.898G>T (p.Ala300Ser) | |
21 | g.37490415C>A | CA409947823 | DYRK1A | c.905C>A (p.Ala302Glu) c.791C>A (p.Ala264Glu) c.878C>A (p.Ala293Glu) n.708C>A n.269C>A c.926C>A (p.Ala309Glu) n.320C>A c.818C>A (p.Ala273Glu) c.221C>A (p.Ala74Glu) c.899C>A (p.Ala300Glu) | |
21 | g.37490415C>G | CA409947824 | DYRK1A | c.905C>G (p.Ala302Gly) c.791C>G (p.Ala264Gly) c.878C>G (p.Ala293Gly) n.708C>G n.269C>G c.926C>G (p.Ala309Gly) n.320C>G c.818C>G (p.Ala273Gly) c.221C>G (p.Ala74Gly) c.899C>G (p.Ala300Gly) | |
21 | g.37490415C>T | CA409947825 | DYRK1A | c.905C>T (p.Ala302Val) c.791C>T (p.Ala264Val) c.878C>T (p.Ala293Val) n.708C>T n.269C>T c.926C>T (p.Ala309Val) n.320C>T c.818C>T (p.Ala273Val) c.221C>T (p.Ala74Val) c.899C>T (p.Ala300Val) | |
21 | g.37490416A>C | CA512327910 | DYRK1A | c.906A>C (p.Ala302=) c.792A>C (p.Ala264=) c.879A>C (p.Ala293=) n.709A>C n.270A>C c.927A>C (p.Ala309=) n.321A>C c.819A>C (p.Ala273=) c.222A>C (p.Ala74=) c.900A>C (p.Ala300=) | |
21 | g.37490416A>G | CA512327912 | DYRK1A | c.906A>G (p.Ala302=) c.792A>G (p.Ala264=) c.879A>G (p.Ala293=) n.709A>G n.270A>G c.927A>G (p.Ala309=) n.321A>G c.819A>G (p.Ala273=) c.222A>G (p.Ala74=) c.900A>G (p.Ala300=) | |
21 | g.37490416A>T | CA512327911 | DYRK1A | c.906A>T (p.Ala302=) c.792A>T (p.Ala264=) c.879A>T (p.Ala293=) n.709A>T n.270A>T c.927A>T (p.Ala309=) n.321A>T c.819A>T (p.Ala273=) c.222A>T (p.Ala74=) c.900A>T (p.Ala300=) | |
21 | g.37490416_37490417insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT | CA658769003 | DYRK1A | c.906_907insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile303GlnfsTer7) c.792_793insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile265GlnfsTer7) c.879_880insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile294GlnfsTer7) n.709_710insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT n.270_271insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT c.927_928insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile310GlnfsTer7) n.321_322insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT c.819_820insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile274GlnfsTer7) c.222_223insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile75GlnfsTer7) c.900_901insCAGAAAAAAAAAATGACCTGACCCATATGATATCTTAACCTTATATTCCT (p.Ile301GlnfsTer7) | |
21 | g.37490417A= | CA2388495814 | DYRK1A | c.907A= (p.Ile303=) c.793A= (p.Ile265=) c.880A= (p.Ile294=) n.710A= n.271A= c.928A= (p.Ile310=) n.322A= c.820A= (p.Ile274=) c.223A= (p.Ile75=) c.901A= (p.Ile301=) | |
21 | g.37490417A>C | CA409947826 | DYRK1A | c.907A>C (p.Ile303Leu) c.793A>C (p.Ile265Leu) c.880A>C (p.Ile294Leu) n.710A>C n.271A>C c.928A>C (p.Ile310Leu) n.322A>C c.820A>C (p.Ile274Leu) c.223A>C (p.Ile75Leu) c.901A>C (p.Ile301Leu) | |
21 | g.37490417A>G | CA10023865 | DYRK1A | c.907A>G (p.Ile303Val) c.793A>G (p.Ile265Val) c.880A>G (p.Ile294Val) n.710A>G n.271A>G c.928A>G (p.Ile310Val) n.322A>G c.820A>G (p.Ile274Val) c.223A>G (p.Ile75Val) c.901A>G (p.Ile301Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37490417A>T | CA409947827 | DYRK1A | c.907A>T (p.Ile303Phe) c.793A>T (p.Ile265Phe) c.880A>T (p.Ile294Phe) n.710A>T n.271A>T c.928A>T (p.Ile310Phe) n.322A>T c.820A>T (p.Ile274Phe) c.223A>T (p.Ile75Phe) c.901A>T (p.Ile301Phe) | |
21 | g.37490418T>A | CA409947828 | DYRK1A | c.908T>A (p.Ile303Asn) c.794T>A (p.Ile265Asn) c.881T>A (p.Ile294Asn) n.711T>A n.272T>A c.929T>A (p.Ile310Asn) n.323T>A c.821T>A (p.Ile274Asn) c.224T>A (p.Ile75Asn) c.902T>A (p.Ile301Asn) | |
21 | g.37490418T>C | CA409947829 | DYRK1A | c.908T>C (p.Ile303Thr) c.794T>C (p.Ile265Thr) c.881T>C (p.Ile294Thr) n.711T>C n.272T>C c.929T>C (p.Ile310Thr) n.323T>C c.821T>C (p.Ile274Thr) c.224T>C (p.Ile75Thr) c.902T>C (p.Ile301Thr) | |
21 | g.37490418T>G | CA409947830 | DYRK1A | c.908T>G (p.Ile303Ser) c.794T>G (p.Ile265Ser) c.881T>G (p.Ile294Ser) n.711T>G n.272T>G c.929T>G (p.Ile310Ser) n.323T>G c.821T>G (p.Ile274Ser) c.224T>G (p.Ile75Ser) c.902T>G (p.Ile301Ser) | |
21 | g.37490419C>A | CA512327917 | DYRK1A | c.909C>A (p.Ile303=) c.795C>A (p.Ile265=) c.882C>A (p.Ile294=) n.712C>A n.273C>A c.930C>A (p.Ile310=) n.324C>A c.822C>A (p.Ile274=) c.225C>A (p.Ile75=) c.903C>A (p.Ile301=) | |
21 | g.37490419C>G | CA409947831 | DYRK1A | c.909C>G (p.Ile303Met) c.795C>G (p.Ile265Met) c.882C>G (p.Ile294Met) n.712C>G n.273C>G c.930C>G (p.Ile310Met) n.324C>G c.822C>G (p.Ile274Met) c.225C>G (p.Ile75Met) c.903C>G (p.Ile301Met) | |
21 | g.37490419C>T | CA512327916 | DYRK1A | c.909C>T (p.Ile303=) c.795C>T (p.Ile265=) c.882C>T (p.Ile294=) n.712C>T n.273C>T c.930C>T (p.Ile310=) n.324C>T c.822C>T (p.Ile274=) c.225C>T (p.Ile75=) c.903C>T (p.Ile301=) | |
21 | g.37490420A>C | CA409947832 | DYRK1A | c.910A>C (p.Lys304Gln) c.796A>C (p.Lys266Gln) c.883A>C (p.Lys295Gln) n.713A>C n.274A>C c.931A>C (p.Lys311Gln) n.325A>C c.823A>C (p.Lys275Gln) c.226A>C (p.Lys76Gln) c.904A>C (p.Lys302Gln) | |
21 | g.37490420A>G | CA409947833 | DYRK1A | c.910A>G (p.Lys304Glu) c.796A>G (p.Lys266Glu) c.883A>G (p.Lys295Glu) n.713A>G n.274A>G c.931A>G (p.Lys311Glu) n.325A>G c.823A>G (p.Lys275Glu) c.226A>G (p.Lys76Glu) c.904A>G (p.Lys302Glu) | |
21 | g.37490420A>T | CA409947834 | DYRK1A | c.910A>T (p.Lys304Ter) c.796A>T (p.Lys266Ter) c.883A>T (p.Lys295Ter) n.713A>T n.274A>T c.931A>T (p.Lys311Ter) n.325A>T c.823A>T (p.Lys275Ter) c.226A>T (p.Lys76Ter) c.904A>T (p.Lys302Ter) | |
21 | g.37490421A>C | CA409947835 | DYRK1A | c.911A>C (p.Lys304Thr) c.797A>C (p.Lys266Thr) c.884A>C (p.Lys295Thr) n.714A>C n.275A>C c.932A>C (p.Lys311Thr) n.326A>C c.824A>C (p.Lys275Thr) c.227A>C (p.Lys76Thr) c.905A>C (p.Lys302Thr) | |
21 | g.37490421A>G | CA409947837 | DYRK1A | c.911A>G (p.Lys304Arg) c.797A>G (p.Lys266Arg) c.884A>G (p.Lys295Arg) n.714A>G n.275A>G c.932A>G (p.Lys311Arg) n.326A>G c.824A>G (p.Lys275Arg) c.227A>G (p.Lys76Arg) c.905A>G (p.Lys302Arg) | |
21 | g.37490421A>T | CA409947836 | DYRK1A | c.911A>T (p.Lys304Met) c.797A>T (p.Lys266Met) c.884A>T (p.Lys295Met) n.714A>T n.275A>T c.932A>T (p.Lys311Met) n.326A>T c.824A>T (p.Lys275Met) c.227A>T (p.Lys76Met) c.905A>T (p.Lys302Met) | |
21 | g.37490422G>A | CA512327918 | DYRK1A | c.912G>A (p.Lys304=) c.798G>A (p.Lys266=) c.885G>A (p.Lys295=) n.715G>A n.276G>A c.933G>A (p.Lys311=) n.327G>A c.825G>A (p.Lys275=) c.228G>A (p.Lys76=) c.906G>A (p.Lys302=) | |
21 | g.37490422G>C | CA409947838 | DYRK1A | c.912G>C (p.Lys304Asn) c.798G>C (p.Lys266Asn) c.885G>C (p.Lys295Asn) n.715G>C n.276G>C c.933G>C (p.Lys311Asn) n.327G>C c.825G>C (p.Lys275Asn) c.228G>C (p.Lys76Asn) c.906G>C (p.Lys302Asn) | |
21 | g.37490422G>T | CA409947839 | DYRK1A | c.912G>T (p.Lys304Asn) c.798G>T (p.Lys266Asn) c.885G>T (p.Lys295Asn) n.715G>T n.276G>T c.933G>T (p.Lys311Asn) n.327G>T c.825G>T (p.Lys275Asn) c.228G>T (p.Lys76Asn) c.906G>T (p.Lys302Asn) |