| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 21 | g.37490423A= | CA2388495815 | DYRK1A | c.913A= (p.Ile305=) c.799A= (p.Ile267=) c.886A= (p.Ile296=) n.716A= n.277A= c.934A= (p.Ile312=) n.328A= c.826A= (p.Ile276=) c.229A= (p.Ile77=) c.907A= (p.Ile303=) | |
| 21 | g.37490423A>C | CA409947840 | DYRK1A | c.913A>C (p.Ile305Leu) c.799A>C (p.Ile267Leu) c.886A>C (p.Ile296Leu) n.716A>C n.277A>C c.934A>C (p.Ile312Leu) n.328A>C c.826A>C (p.Ile276Leu) c.229A>C (p.Ile77Leu) c.907A>C (p.Ile303Leu) | |
| 21 | g.37490423A>G | CA409947841 | DYRK1A | c.913A>G (p.Ile305Val) c.799A>G (p.Ile267Val) c.886A>G (p.Ile296Val) n.716A>G n.277A>G c.934A>G (p.Ile312Val) n.328A>G c.826A>G (p.Ile276Val) c.229A>G (p.Ile77Val) c.907A>G (p.Ile303Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.37490423A>T | CA409947842 | DYRK1A | c.913A>T (p.Ile305Leu) c.799A>T (p.Ile267Leu) c.886A>T (p.Ile296Leu) n.716A>T n.277A>T c.934A>T (p.Ile312Leu) n.328A>T c.826A>T (p.Ile276Leu) c.229A>T (p.Ile77Leu) c.907A>T (p.Ile303Leu) | |
| 21 | g.37490424T>A | CA409947843 | DYRK1A | c.914T>A (p.Ile305Lys) c.800T>A (p.Ile267Lys) c.887T>A (p.Ile296Lys) n.717T>A n.278T>A c.935T>A (p.Ile312Lys) n.329T>A c.827T>A (p.Ile276Lys) c.230T>A (p.Ile77Lys) c.908T>A (p.Ile303Lys) | |
| 21 | g.37490424T>C | CA409947844 | DYRK1A | c.914T>C (p.Ile305Thr) c.800T>C (p.Ile267Thr) c.887T>C (p.Ile296Thr) n.717T>C n.278T>C c.935T>C (p.Ile312Thr) n.329T>C c.827T>C (p.Ile276Thr) c.230T>C (p.Ile77Thr) c.908T>C (p.Ile303Thr) | |
| 21 | g.37490424T>G | CA409947845 | DYRK1A | c.914T>G (p.Ile305Arg) c.800T>G (p.Ile267Arg) c.887T>G (p.Ile296Arg) n.717T>G n.278T>G c.935T>G (p.Ile312Arg) n.329T>G c.827T>G (p.Ile276Arg) c.230T>G (p.Ile77Arg) c.908T>G (p.Ile303Arg) | ClinVar dbSNP |
| 21 | g.37490424dup | CA658769004 | DYRK1A | c.914dup (p.Val306SerfsTer2) c.800dup (p.Val268SerfsTer2) c.887dup (p.Val297SerfsTer2) n.717dup n.278dup c.935dup (p.Val313SerfsTer2) n.329dup c.827dup (p.Val277SerfsTer2) c.230dup (p.Val78SerfsTer2) c.908dup (p.Val304SerfsTer2) | |
| 21 | g.37490424_37490429del | CA2695230165 | DYRK1A | c.914_919del (p.Ile305_Asp307delinsAsn) c.800_805del (p.Ile267_Asp269delinsAsn) c.887_892del (p.Ile296_Asp298delinsAsn) n.717_722del n.278_283del c.935_940del (p.Ile312_Asp314delinsAsn) n.329_334del c.827_832del (p.Ile276_Asp278delinsAsn) c.230_235del (p.Ile77_Asp79delinsAsn) c.908_913del (p.Ile303_Asp305delinsAsn) | |
| 21 | g.37490425A>C | CA512327921 | DYRK1A | c.915A>C (p.Ile305=) c.801A>C (p.Ile267=) c.888A>C (p.Ile296=) n.718A>C n.279A>C c.936A>C (p.Ile312=) n.330A>C c.828A>C (p.Ile276=) c.231A>C (p.Ile77=) c.909A>C (p.Ile303=) | |
| 21 | g.37490425A>G | CA409947846 | DYRK1A | c.915A>G (p.Ile305Met) c.801A>G (p.Ile267Met) c.888A>G (p.Ile296Met) n.718A>G n.279A>G c.936A>G (p.Ile312Met) n.330A>G c.828A>G (p.Ile276Met) c.231A>G (p.Ile77Met) c.909A>G (p.Ile303Met) | |
| 21 | g.37490425A>T | CA512327922 | DYRK1A | c.915A>T (p.Ile305=) c.801A>T (p.Ile267=) c.888A>T (p.Ile296=) n.718A>T n.279A>T c.936A>T (p.Ile312=) n.330A>T c.828A>T (p.Ile276=) c.231A>T (p.Ile77=) c.909A>T (p.Ile303=) | |
| 21 | g.37490426G>A | CA409947847 | DYRK1A | c.916G>A (p.Val306Ile) c.802G>A (p.Val268Ile) c.889G>A (p.Val297Ile) n.719G>A n.280G>A c.937G>A (p.Val313Ile) n.331G>A c.829G>A (p.Val277Ile) c.232G>A (p.Val78Ile) c.910G>A (p.Val304Ile) | |
| 21 | g.37490426G>C | CA409947848 | DYRK1A | c.916G>C (p.Val306Leu) c.802G>C (p.Val268Leu) c.889G>C (p.Val297Leu) n.719G>C n.280G>C c.937G>C (p.Val313Leu) n.331G>C c.829G>C (p.Val277Leu) c.232G>C (p.Val78Leu) c.910G>C (p.Val304Leu) | |
| 21 | g.37490426G>T | CA409947849 | DYRK1A | c.916G>T (p.Val306Phe) c.802G>T (p.Val268Phe) c.889G>T (p.Val297Phe) n.719G>T n.280G>T c.937G>T (p.Val313Phe) n.331G>T c.829G>T (p.Val277Phe) c.232G>T (p.Val78Phe) c.910G>T (p.Val304Phe) | |
| 21 | g.37490427T>A | CA409947851 | DYRK1A | c.917T>A (p.Val306Asp) c.803T>A (p.Val268Asp) c.890T>A (p.Val297Asp) n.720T>A n.281T>A c.938T>A (p.Val313Asp) n.332T>A c.830T>A (p.Val277Asp) c.233T>A (p.Val78Asp) c.911T>A (p.Val304Asp) | |
| 21 | g.37490427T>C | CA409947852 | DYRK1A | c.917T>C (p.Val306Ala) c.803T>C (p.Val268Ala) c.890T>C (p.Val297Ala) n.720T>C n.281T>C c.938T>C (p.Val313Ala) n.332T>C c.830T>C (p.Val277Ala) c.233T>C (p.Val78Ala) c.911T>C (p.Val304Ala) | |
| 21 | g.37490427T>G | CA409947850 | DYRK1A | c.917T>G (p.Val306Gly) c.803T>G (p.Val268Gly) c.890T>G (p.Val297Gly) n.720T>G n.281T>G c.938T>G (p.Val313Gly) n.332T>G c.830T>G (p.Val277Gly) c.233T>G (p.Val78Gly) c.911T>G (p.Val304Gly) | |
| 21 | g.37490428del | CA1022232344 | DYRK1A | c.918del (p.Asp307ThrfsTer?) c.804del (p.Asp269ThrfsTer?) c.891del (p.Asp298ThrfsTer?) n.721del n.282del c.939del (p.Asp314ThrfsTer?) n.333del c.831del (p.Asp278ThrfsTer?) c.234del (p.Asp79ThrfsTer?) c.912del (p.Asp305ThrfsTer?) | gnomAD v3 gnomAD v4 |
| 21 | g.37490428T>A | CA512327924 | DYRK1A | c.918T>A (p.Val306=) c.804T>A (p.Val268=) c.891T>A (p.Val297=) n.721T>A n.282T>A c.939T>A (p.Val313=) n.333T>A c.831T>A (p.Val277=) c.234T>A (p.Val78=) c.912T>A (p.Val304=) | |
| 21 | g.37490428T>C | CA512327926 | DYRK1A | c.918T>C (p.Val306=) c.804T>C (p.Val268=) c.891T>C (p.Val297=) n.721T>C n.282T>C c.939T>C (p.Val313=) n.333T>C c.831T>C (p.Val277=) c.234T>C (p.Val78=) c.912T>C (p.Val304=) | |
| 21 | g.37490428T>G | CA512327925 | DYRK1A | c.918T>G (p.Val306=) c.804T>G (p.Val268=) c.891T>G (p.Val297=) n.721T>G n.282T>G c.939T>G (p.Val313=) n.333T>G c.831T>G (p.Val277=) c.234T>G (p.Val78=) c.912T>G (p.Val304=) | |
| 21 | g.37490429G>A | CA409947853 | DYRK1A | c.919G>A (p.Asp307Asn) c.805G>A (p.Asp269Asn) c.892G>A (p.Asp298Asn) n.722G>A n.283G>A c.940G>A (p.Asp314Asn) n.334G>A c.832G>A (p.Asp278Asn) c.235G>A (p.Asp79Asn) c.913G>A (p.Asp305Asn) | COSMIC COSMIC |
| 21 | g.37490429G>C | CA409947854 | DYRK1A | c.919G>C (p.Asp307His) c.805G>C (p.Asp269His) c.892G>C (p.Asp298His) n.722G>C n.283G>C c.940G>C (p.Asp314His) n.334G>C c.832G>C (p.Asp278His) c.235G>C (p.Asp79His) c.913G>C (p.Asp305His) | |
| 21 | g.37490429G>T | CA409947855 | DYRK1A | c.919G>T (p.Asp307Tyr) c.805G>T (p.Asp269Tyr) c.892G>T (p.Asp298Tyr) n.722G>T n.283G>T c.940G>T (p.Asp314Tyr) n.334G>T c.832G>T (p.Asp278Tyr) c.235G>T (p.Asp79Tyr) c.913G>T (p.Asp305Tyr) | |
| 21 | g.37490430A>C | CA409947856 | DYRK1A | c.920A>C (p.Asp307Ala) c.806A>C (p.Asp269Ala) c.893A>C (p.Asp298Ala) n.723A>C n.284A>C c.941A>C (p.Asp314Ala) n.335A>C c.833A>C (p.Asp278Ala) c.236A>C (p.Asp79Ala) c.914A>C (p.Asp305Ala) | |
| 21 | g.37490430A>G | CA409947857 | DYRK1A | c.920A>G (p.Asp307Gly) c.806A>G (p.Asp269Gly) c.893A>G (p.Asp298Gly) n.723A>G n.284A>G c.941A>G (p.Asp314Gly) n.335A>G c.833A>G (p.Asp278Gly) c.236A>G (p.Asp79Gly) c.914A>G (p.Asp305Gly) | |
| 21 | g.37490430A>T | CA409947858 | DYRK1A | c.920A>T (p.Asp307Val) c.806A>T (p.Asp269Val) c.893A>T (p.Asp298Val) n.723A>T n.284A>T c.941A>T (p.Asp314Val) n.335A>T c.833A>T (p.Asp278Val) c.236A>T (p.Asp79Val) c.914A>T (p.Asp305Val) | |
| 21 | g.37490431C>A | CA409947859 | DYRK1A | c.921C>A (p.Asp307Glu) c.807C>A (p.Asp269Glu) c.894C>A (p.Asp298Glu) n.724C>A n.285C>A c.942C>A (p.Asp314Glu) n.336C>A c.834C>A (p.Asp278Glu) c.237C>A (p.Asp79Glu) c.915C>A (p.Asp305Glu) | |
| 21 | g.37490431C>G | CA409947860 | DYRK1A | c.921C>G (p.Asp307Glu) c.807C>G (p.Asp269Glu) c.894C>G (p.Asp298Glu) n.724C>G n.285C>G c.942C>G (p.Asp314Glu) n.336C>G c.834C>G (p.Asp278Glu) c.237C>G (p.Asp79Glu) c.915C>G (p.Asp305Glu) | |
| 21 | g.37490431C>T | CA512327928 | DYRK1A | c.921C>T (p.Asp307=) c.807C>T (p.Asp269=) c.894C>T (p.Asp298=) n.724C>T n.285C>T c.942C>T (p.Asp314=) n.336C>T c.834C>T (p.Asp278=) c.237C>T (p.Asp79=) c.915C>T (p.Asp305=) | |
| 21 | g.37490432T>A | CA409947861 | DYRK1A | c.922T>A (p.Phe308Ile) c.808T>A (p.Phe270Ile) c.895T>A (p.Phe299Ile) n.725T>A n.286T>A c.943T>A (p.Phe315Ile) n.337T>A c.835T>A (p.Phe279Ile) c.238T>A (p.Phe80Ile) c.916T>A (p.Phe306Ile) | |
| 21 | g.37490432T>C | CA409947862 | DYRK1A | c.922T>C (p.Phe308Leu) c.808T>C (p.Phe270Leu) c.895T>C (p.Phe299Leu) n.725T>C n.286T>C c.943T>C (p.Phe315Leu) n.337T>C c.835T>C (p.Phe279Leu) c.238T>C (p.Phe80Leu) c.916T>C (p.Phe306Leu) | |
| 21 | g.37490432T>G | CA278541 | DYRK1A | c.922T>G (p.Phe308Val) c.808T>G (p.Phe270Val) c.895T>G (p.Phe299Val) n.725T>G n.286T>G c.943T>G (p.Phe315Val) n.337T>G c.835T>G (p.Phe279Val) c.238T>G (p.Phe80Val) c.916T>G (p.Phe306Val) | ClinVar dbSNP |
| 21 | g.37490432T= | CA2388495816 | DYRK1A | c.922T= (p.Phe308=) c.808T= (p.Phe270=) c.895T= (p.Phe299=) n.725T= n.286T= c.943T= (p.Phe315=) n.337T= c.835T= (p.Phe279=) c.238T= (p.Phe80=) c.916T= (p.Phe306=) | |
| 21 | g.37490433T>A | CA409947863 | DYRK1A | c.923T>A (p.Phe308Tyr) c.809T>A (p.Phe270Tyr) c.896T>A (p.Phe299Tyr) n.726T>A n.287T>A c.944T>A (p.Phe315Tyr) n.338T>A c.836T>A (p.Phe279Tyr) c.239T>A (p.Phe80Tyr) c.917T>A (p.Phe306Tyr) | |
| 21 | g.37490433T>C | CA409947864 | DYRK1A | c.923T>C (p.Phe308Ser) c.809T>C (p.Phe270Ser) c.896T>C (p.Phe299Ser) n.726T>C n.287T>C c.944T>C (p.Phe315Ser) n.338T>C c.836T>C (p.Phe279Ser) c.239T>C (p.Phe80Ser) c.917T>C (p.Phe306Ser) | ClinVar dbSNP |
| 21 | g.37490433T>G | CA409947865 | DYRK1A | c.923T>G (p.Phe308Cys) c.809T>G (p.Phe270Cys) c.896T>G (p.Phe299Cys) n.726T>G n.287T>G c.944T>G (p.Phe315Cys) n.338T>G c.836T>G (p.Phe279Cys) c.239T>G (p.Phe80Cys) c.917T>G (p.Phe306Cys) | |
| 21 | g.37490433T= | CA2388495817 | DYRK1A | c.923T= (p.Phe308=) c.809T= (p.Phe270=) c.896T= (p.Phe299=) n.726T= n.287T= c.944T= (p.Phe315=) n.338T= c.836T= (p.Phe279=) c.239T= (p.Phe80=) c.917T= (p.Phe306=) | |
| 21 | g.37490434T>A | CA409947867 | DYRK1A | c.924T>A (p.Phe308Leu) c.810T>A (p.Phe270Leu) c.897T>A (p.Phe299Leu) n.727T>A n.288T>A c.945T>A (p.Phe315Leu) n.339T>A c.837T>A (p.Phe279Leu) c.240T>A (p.Phe80Leu) c.918T>A (p.Phe306Leu) | |
| 21 | g.37490434T>C | CA512327930 | DYRK1A | c.924T>C (p.Phe308=) c.810T>C (p.Phe270=) c.897T>C (p.Phe299=) n.727T>C n.288T>C c.945T>C (p.Phe315=) n.339T>C c.837T>C (p.Phe279=) c.240T>C (p.Phe80=) c.918T>C (p.Phe306=) | |
| 21 | g.37490434T>G | CA409947866 | DYRK1A | c.924T>G (p.Phe308Leu) c.810T>G (p.Phe270Leu) c.897T>G (p.Phe299Leu) n.727T>G n.288T>G c.945T>G (p.Phe315Leu) n.339T>G c.837T>G (p.Phe279Leu) c.240T>G (p.Phe80Leu) c.918T>G (p.Phe306Leu) | |
| 21 | g.37490435G>A | CA409947868 | DYRK1A | c.925G>A (p.Gly309Ser) c.811G>A (p.Gly271Ser) c.898G>A (p.Gly300Ser) n.728G>A n.289G>A c.946G>A (p.Gly316Ser) n.340G>A c.838G>A (p.Gly280Ser) c.241G>A (p.Gly81Ser) c.919G>A (p.Gly307Ser) | |
| 21 | g.37490435G>C | CA409947870 | DYRK1A | c.925G>C (p.Gly309Arg) c.811G>C (p.Gly271Arg) c.898G>C (p.Gly300Arg) n.728G>C n.289G>C c.946G>C (p.Gly316Arg) n.340G>C c.838G>C (p.Gly280Arg) c.241G>C (p.Gly81Arg) c.919G>C (p.Gly307Arg) | |
| 21 | g.37490435G>T | CA409947869 | DYRK1A | c.925G>T (p.Gly309Cys) c.811G>T (p.Gly271Cys) c.898G>T (p.Gly300Cys) n.728G>T n.289G>T c.946G>T (p.Gly316Cys) n.340G>T c.838G>T (p.Gly280Cys) c.241G>T (p.Gly81Cys) c.919G>T (p.Gly307Cys) | gnomAD v3 gnomAD v4 |
| 21 | g.37490436G>A | CA409947871 | DYRK1A | c.926G>A (p.Gly309Asp) c.812G>A (p.Gly271Asp) c.899G>A (p.Gly300Asp) n.729G>A n.290G>A c.947G>A (p.Gly316Asp) n.341G>A c.839G>A (p.Gly280Asp) c.242G>A (p.Gly81Asp) c.920G>A (p.Gly307Asp) | |
| 21 | g.37490436G>C | CA409947873 | DYRK1A | c.926G>C (p.Gly309Ala) c.812G>C (p.Gly271Ala) c.899G>C (p.Gly300Ala) n.729G>C n.290G>C c.947G>C (p.Gly316Ala) n.341G>C c.839G>C (p.Gly280Ala) c.242G>C (p.Gly81Ala) c.920G>C (p.Gly307Ala) | |
| 21 | g.37490436G>T | CA409947872 | DYRK1A | c.926G>T (p.Gly309Val) c.812G>T (p.Gly271Val) c.899G>T (p.Gly300Val) n.729G>T n.290G>T c.947G>T (p.Gly316Val) n.341G>T c.839G>T (p.Gly280Val) c.242G>T (p.Gly81Val) c.920G>T (p.Gly307Val) | |
| 21 | g.37490437C>A | CA512327932 | DYRK1A | c.927C>A (p.Gly309=) c.813C>A (p.Gly271=) c.900C>A (p.Gly300=) n.730C>A n.291C>A c.948C>A (p.Gly316=) n.342C>A c.840C>A (p.Gly280=) c.243C>A (p.Gly81=) c.921C>A (p.Gly307=) | |
| 21 | g.37490437C>G | CA512327933 | DYRK1A | c.927C>G (p.Gly309=) c.813C>G (p.Gly271=) c.900C>G (p.Gly300=) n.730C>G n.291C>G c.948C>G (p.Gly316=) n.342C>G c.840C>G (p.Gly280=) c.243C>G (p.Gly81=) c.921C>G (p.Gly307=) | |
| 21 | g.37490437C>T | CA512327934 | DYRK1A | c.927C>T (p.Gly309=) c.813C>T (p.Gly271=) c.900C>T (p.Gly300=) n.730C>T n.291C>T c.948C>T (p.Gly316=) n.342C>T c.840C>T (p.Gly280=) c.243C>T (p.Gly81=) c.921C>T (p.Gly307=) | COSMIC COSMIC |
| 21 | g.37490438A>C | CA409947874 | DYRK1A | c.928A>C (p.Ser310Arg) c.814A>C (p.Ser272Arg) c.901A>C (p.Ser301Arg) n.731A>C n.292A>C c.949A>C (p.Ser317Arg) n.343A>C c.841A>C (p.Ser281Arg) c.244A>C (p.Ser82Arg) c.922A>C (p.Ser308Arg) | |
| 21 | g.37490438A>G | CA409947876 | DYRK1A | c.928A>G (p.Ser310Gly) c.814A>G (p.Ser272Gly) c.901A>G (p.Ser301Gly) n.731A>G n.292A>G c.949A>G (p.Ser317Gly) n.343A>G c.841A>G (p.Ser281Gly) c.244A>G (p.Ser82Gly) c.922A>G (p.Ser308Gly) | |
| 21 | g.37490438A>T | CA409947875 | DYRK1A | c.928A>T (p.Ser310Cys) c.814A>T (p.Ser272Cys) c.901A>T (p.Ser301Cys) n.731A>T n.292A>T c.949A>T (p.Ser317Cys) n.343A>T c.841A>T (p.Ser281Cys) c.244A>T (p.Ser82Cys) c.922A>T (p.Ser308Cys) | |
| 21 | g.37490439G>A | CA409947877 | DYRK1A | c.929G>A (p.Ser310Asn) c.815G>A (p.Ser272Asn) c.902G>A (p.Ser301Asn) n.732G>A n.293G>A c.950G>A (p.Ser317Asn) n.344G>A c.842G>A (p.Ser281Asn) c.245G>A (p.Ser82Asn) c.923G>A (p.Ser308Asn) | ClinVar |
| 21 | g.37490439G>C | CA409947878 | DYRK1A | c.929G>C (p.Ser310Thr) c.815G>C (p.Ser272Thr) c.902G>C (p.Ser301Thr) n.732G>C n.293G>C c.950G>C (p.Ser317Thr) n.344G>C c.842G>C (p.Ser281Thr) c.245G>C (p.Ser82Thr) c.923G>C (p.Ser308Thr) | |
| 21 | g.37490439G>T | CA409947879 | DYRK1A | c.929G>T (p.Ser310Ile) c.815G>T (p.Ser272Ile) c.902G>T (p.Ser301Ile) n.732G>T n.293G>T c.950G>T (p.Ser317Ile) n.344G>T c.842G>T (p.Ser281Ile) c.245G>T (p.Ser82Ile) c.923G>T (p.Ser308Ile) | |
| 21 | g.37490440T>A | CA409947880 | DYRK1A | c.930T>A (p.Ser310Arg) c.816T>A (p.Ser272Arg) c.903T>A (p.Ser301Arg) n.733T>A n.294T>A c.951T>A (p.Ser317Arg) n.345T>A c.843T>A (p.Ser281Arg) c.246T>A (p.Ser82Arg) c.924T>A (p.Ser308Arg) | |
| 21 | g.37490440T>C | CA512327936 | DYRK1A | c.930T>C (p.Ser310=) c.816T>C (p.Ser272=) c.903T>C (p.Ser301=) n.733T>C n.294T>C c.951T>C (p.Ser317=) n.345T>C c.843T>C (p.Ser281=) c.246T>C (p.Ser82=) c.924T>C (p.Ser308=) | |
| 21 | g.37490440T>G | CA409947881 | DYRK1A | c.930T>G (p.Ser310Arg) c.816T>G (p.Ser272Arg) c.903T>G (p.Ser301Arg) n.733T>G n.294T>G c.951T>G (p.Ser317Arg) n.345T>G c.843T>G (p.Ser281Arg) c.246T>G (p.Ser82Arg) c.924T>G (p.Ser308Arg) | |
| 21 | g.37490441T>A | CA409947882 | DYRK1A | c.931T>A (p.Ser311Thr) c.817T>A (p.Ser273Thr) c.904T>A (p.Ser302Thr) n.734T>A n.295T>A c.952T>A (p.Ser318Thr) n.346T>A c.844T>A (p.Ser282Thr) c.247T>A (p.Ser83Thr) c.925T>A (p.Ser309Thr) | |
| 21 | g.37490441T>C | CA409947883 | DYRK1A | c.931T>C (p.Ser311Pro) c.817T>C (p.Ser273Pro) c.904T>C (p.Ser302Pro) n.734T>C n.295T>C c.952T>C (p.Ser318Pro) n.346T>C c.844T>C (p.Ser282Pro) c.247T>C (p.Ser83Pro) c.925T>C (p.Ser309Pro) | |
| 21 | g.37490441T>G | CA409947884 | DYRK1A | c.931T>G (p.Ser311Ala) c.817T>G (p.Ser273Ala) c.904T>G (p.Ser302Ala) n.734T>G n.295T>G c.952T>G (p.Ser318Ala) n.346T>G c.844T>G (p.Ser282Ala) c.247T>G (p.Ser83Ala) c.925T>G (p.Ser309Ala) | |
| 21 | g.37490442C>A | CA320483570 | DYRK1A | c.932C>A (p.Ser311Tyr) c.818C>A (p.Ser273Tyr) c.905C>A (p.Ser302Tyr) n.735C>A n.296C>A c.953C>A (p.Ser318Tyr) n.347C>A c.845C>A (p.Ser282Tyr) c.248C>A (p.Ser83Tyr) c.926C>A (p.Ser309Tyr) | ClinVar dbSNP COSMIC |
| 21 | g.37490442C= | CA2388495818 | DYRK1A | c.932C= (p.Ser311=) c.818C= (p.Ser273=) c.905C= (p.Ser302=) n.735C= n.296C= c.953C= (p.Ser318=) n.347C= c.845C= (p.Ser282=) c.248C= (p.Ser83=) c.926C= (p.Ser309=) | |
| 21 | g.37490442C>G | CA409947885 | DYRK1A | c.932C>G (p.Ser311Cys) c.818C>G (p.Ser273Cys) c.905C>G (p.Ser302Cys) n.735C>G n.296C>G c.953C>G (p.Ser318Cys) n.347C>G c.845C>G (p.Ser282Cys) c.248C>G (p.Ser83Cys) c.926C>G (p.Ser309Cys) | |
| 21 | g.37490442C>T | CA16608057 | DYRK1A | c.932C>T (p.Ser311Phe) c.818C>T (p.Ser273Phe) c.905C>T (p.Ser302Phe) n.735C>T n.296C>T c.953C>T (p.Ser318Phe) n.347C>T c.845C>T (p.Ser282Phe) c.248C>T (p.Ser83Phe) c.926C>T (p.Ser309Phe) | ClinVar dbSNP COSMIC COSMIC |
| 21 | g.37490443T>A | CA512327940 | DYRK1A | c.933T>A (p.Ser311=) c.819T>A (p.Ser273=) c.906T>A (p.Ser302=) n.736T>A n.297T>A c.954T>A (p.Ser318=) n.348T>A c.846T>A (p.Ser282=) c.249T>A (p.Ser83=) c.927T>A (p.Ser309=) | |
| 21 | g.37490443T>C | CA10023866 | DYRK1A | c.933T>C (p.Ser311=) c.819T>C (p.Ser273=) c.906T>C (p.Ser302=) n.736T>C n.297T>C c.954T>C (p.Ser318=) n.348T>C c.846T>C (p.Ser282=) c.249T>C (p.Ser83=) c.927T>C (p.Ser309=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.37490443T>G | CA512327939 | DYRK1A | c.933T>G (p.Ser311=) c.819T>G (p.Ser273=) c.906T>G (p.Ser302=) n.736T>G n.297T>G c.954T>G (p.Ser318=) n.348T>G c.846T>G (p.Ser282=) c.249T>G (p.Ser83=) c.927T>G (p.Ser309=) | |
| 21 | g.37490443T= | CA2388495819 | DYRK1A | c.933T= (p.Ser311=) c.819T= (p.Ser273=) c.906T= (p.Ser302=) n.736T= n.297T= c.954T= (p.Ser318=) n.348T= c.846T= (p.Ser282=) c.249T= (p.Ser83=) c.927T= (p.Ser309=) | |
| 21 | g.37490444T>A | CA409947886 | DYRK1A | c.934T>A (p.Cys312Ser) c.820T>A (p.Cys274Ser) c.907T>A (p.Cys303Ser) n.737T>A n.298T>A c.955T>A (p.Cys319Ser) n.349T>A c.847T>A (p.Cys283Ser) c.250T>A (p.Cys84Ser) c.928T>A (p.Cys310Ser) | |
| 21 | g.37490444T>C | CA409947887 | DYRK1A | c.934T>C (p.Cys312Arg) c.820T>C (p.Cys274Arg) c.907T>C (p.Cys303Arg) n.737T>C n.298T>C c.955T>C (p.Cys319Arg) n.349T>C c.847T>C (p.Cys283Arg) c.250T>C (p.Cys84Arg) c.928T>C (p.Cys310Arg) | |
| 21 | g.37490444T>G | CA409947888 | DYRK1A | c.934T>G (p.Cys312Gly) c.820T>G (p.Cys274Gly) c.907T>G (p.Cys303Gly) n.737T>G n.298T>G c.955T>G (p.Cys319Gly) n.349T>G c.847T>G (p.Cys283Gly) c.250T>G (p.Cys84Gly) c.928T>G (p.Cys310Gly) | |
| 21 | g.37490445G>A | CA409947889 | DYRK1A | c.935G>A (p.Cys312Tyr) c.821G>A (p.Cys274Tyr) c.908G>A (p.Cys303Tyr) n.738G>A n.299G>A c.956G>A (p.Cys319Tyr) n.350G>A c.848G>A (p.Cys283Tyr) c.251G>A (p.Cys84Tyr) c.929G>A (p.Cys310Tyr) | |
| 21 | g.37490445G>C | CA409947890 | DYRK1A | c.935G>C (p.Cys312Ser) c.821G>C (p.Cys274Ser) c.908G>C (p.Cys303Ser) n.738G>C n.299G>C c.956G>C (p.Cys319Ser) n.350G>C c.848G>C (p.Cys283Ser) c.251G>C (p.Cys84Ser) c.929G>C (p.Cys310Ser) | |
| 21 | g.37490445G>T | CA409947891 | DYRK1A | c.935G>T (p.Cys312Phe) c.821G>T (p.Cys274Phe) c.908G>T (p.Cys303Phe) n.738G>T n.299G>T c.956G>T (p.Cys319Phe) n.350G>T c.848G>T (p.Cys283Phe) c.251G>T (p.Cys84Phe) c.929G>T (p.Cys310Phe) | |
| 21 | g.37490446T>A | CA409947892 | DYRK1A | c.936T>A (p.Cys312Ter) c.822T>A (p.Cys274Ter) c.909T>A (p.Cys303Ter) n.739T>A n.300T>A c.957T>A (p.Cys319Ter) n.351T>A c.849T>A (p.Cys283Ter) c.252T>A (p.Cys84Ter) c.930T>A (p.Cys310Ter) | ClinVar dbSNP |
| 21 | g.37490446T>C | CA512327943 | DYRK1A | c.936T>C (p.Cys312=) c.822T>C (p.Cys274=) c.909T>C (p.Cys303=) n.739T>C n.300T>C c.957T>C (p.Cys319=) n.351T>C c.849T>C (p.Cys283=) c.252T>C (p.Cys84=) c.930T>C (p.Cys310=) | |
| 21 | g.37490446T>G | CA409947893 | DYRK1A | c.936T>G (p.Cys312Trp) c.822T>G (p.Cys274Trp) c.909T>G (p.Cys303Trp) n.739T>G n.300T>G c.957T>G (p.Cys319Trp) n.351T>G c.849T>G (p.Cys283Trp) c.252T>G (p.Cys84Trp) c.930T>G (p.Cys310Trp) | |
| 21 | g.37490446T= | CA2388495820 | DYRK1A | c.936T= (p.Cys312=) c.822T= (p.Cys274=) c.909T= (p.Cys303=) n.739T= n.300T= c.957T= (p.Cys319=) n.351T= c.849T= (p.Cys283=) c.252T= (p.Cys84=) c.930T= (p.Cys310=) | |
| 21 | g.37490447C>A | CA409947894 | DYRK1A | c.937C>A (p.Gln313Lys) c.823C>A (p.Gln275Lys) c.910C>A (p.Gln304Lys) n.740C>A n.301C>A c.958C>A (p.Gln320Lys) n.352C>A c.850C>A (p.Gln284Lys) c.253C>A (p.Gln85Lys) c.931C>A (p.Gln311Lys) | |
| 21 | g.37490447C= | CA2388495821 | DYRK1A | c.937C= (p.Gln313=) c.823C= (p.Gln275=) c.910C= (p.Gln304=) n.740C= n.301C= c.958C= (p.Gln320=) n.352C= c.850C= (p.Gln284=) c.253C= (p.Gln85=) c.931C= (p.Gln311=) | |
| 21 | g.37490447C>G | CA409947895 | DYRK1A | c.937C>G (p.Gln313Glu) c.823C>G (p.Gln275Glu) c.910C>G (p.Gln304Glu) n.740C>G n.301C>G c.958C>G (p.Gln320Glu) n.352C>G c.850C>G (p.Gln284Glu) c.253C>G (p.Gln85Glu) c.931C>G (p.Gln311Glu) | |
| 21 | g.37490447C>T | CA409947896 | DYRK1A | c.937C>T (p.Gln313Ter) c.823C>T (p.Gln275Ter) c.910C>T (p.Gln304Ter) n.740C>T n.301C>T c.958C>T (p.Gln320Ter) n.352C>T c.850C>T (p.Gln284Ter) c.253C>T (p.Gln85Ter) c.931C>T (p.Gln311Ter) | ClinVar dbSNP |
| 21 | g.37490448A= | CA2388495822 | DYRK1A | c.938A= (p.Gln313=) c.824A= (p.Gln275=) c.911A= (p.Gln304=) n.741A= n.302A= c.959A= (p.Gln320=) n.353A= c.851A= (p.Gln284=) c.254A= (p.Gln85=) c.932A= (p.Gln311=) | |
| 21 | g.37490448A>C | CA409947898 | DYRK1A | c.938A>C (p.Gln313Pro) c.824A>C (p.Gln275Pro) c.911A>C (p.Gln304Pro) n.741A>C n.302A>C c.959A>C (p.Gln320Pro) n.353A>C c.851A>C (p.Gln284Pro) c.254A>C (p.Gln85Pro) c.932A>C (p.Gln311Pro) | |
| 21 | g.37490448A>G | CA409947899 | DYRK1A | c.938A>G (p.Gln313Arg) c.824A>G (p.Gln275Arg) c.911A>G (p.Gln304Arg) n.741A>G n.302A>G c.959A>G (p.Gln320Arg) n.353A>G c.851A>G (p.Gln284Arg) c.254A>G (p.Gln85Arg) c.932A>G (p.Gln311Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.37490448A>T | CA409947897 | DYRK1A | c.938A>T (p.Gln313Leu) c.824A>T (p.Gln275Leu) c.911A>T (p.Gln304Leu) n.741A>T n.302A>T c.959A>T (p.Gln320Leu) n.353A>T c.851A>T (p.Gln284Leu) c.254A>T (p.Gln85Leu) c.932A>T (p.Gln311Leu) | |
| 21 | g.37490449G>A | CA512327946 | DYRK1A | c.939G>A (p.Gln313=) c.825G>A (p.Gln275=) c.912G>A (p.Gln304=) n.742G>A n.303G>A c.960G>A (p.Gln320=) n.354G>A c.852G>A (p.Gln284=) c.255G>A (p.Gln85=) c.933G>A (p.Gln311=) | |
| 21 | g.37490449G>C | CA409947900 | DYRK1A | c.939G>C (p.Gln313His) c.825G>C (p.Gln275His) c.912G>C (p.Gln304His) n.742G>C n.303G>C c.960G>C (p.Gln320His) n.354G>C c.852G>C (p.Gln284His) c.255G>C (p.Gln85His) c.933G>C (p.Gln311His) | |
| 21 | g.37490449G= | CA2388495823 | DYRK1A | c.939G= (p.Gln313=) c.825G= (p.Gln275=) c.912G= (p.Gln304=) n.742G= n.303G= c.960G= (p.Gln320=) n.354G= c.852G= (p.Gln284=) c.255G= (p.Gln85=) c.933G= (p.Gln311=) | |
| 21 | g.37490449G>T | CA10023867 | DYRK1A | c.939G>T (p.Gln313His) c.825G>T (p.Gln275His) c.912G>T (p.Gln304His) n.742G>T n.303G>T c.960G>T (p.Gln320His) n.354G>T c.852G>T (p.Gln284His) c.255G>T (p.Gln85His) c.933G>T (p.Gln311His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.37490450T>A | CA409947901 | DYRK1A | c.940T>A (p.Leu314Met) c.826T>A (p.Leu276Met) c.913T>A (p.Leu305Met) n.743T>A n.304T>A c.961T>A (p.Leu321Met) n.355T>A c.853T>A (p.Leu285Met) c.256T>A (p.Leu86Met) c.934T>A (p.Leu312Met) | |
| 21 | g.37490450T>C | CA512327947 | DYRK1A | c.940T>C (p.Leu314=) c.826T>C (p.Leu276=) c.913T>C (p.Leu305=) n.743T>C n.304T>C c.961T>C (p.Leu321=) n.355T>C c.853T>C (p.Leu285=) c.256T>C (p.Leu86=) c.934T>C (p.Leu312=) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.37490450T>G | CA409947902 | DYRK1A | c.940T>G (p.Leu314Val) c.826T>G (p.Leu276Val) c.913T>G (p.Leu305Val) n.743T>G n.304T>G c.961T>G (p.Leu321Val) n.355T>G c.853T>G (p.Leu285Val) c.256T>G (p.Leu86Val) c.934T>G (p.Leu312Val) | |
| 21 | g.37490450T= | CA2388495824 | DYRK1A | c.940T= (p.Leu314=) c.826T= (p.Leu276=) c.913T= (p.Leu305=) n.743T= n.304T= c.961T= (p.Leu321=) n.355T= c.853T= (p.Leu285=) c.256T= (p.Leu86=) c.934T= (p.Leu312=) | |
| 21 | g.37490451T>A | CA409947903 | DYRK1A | c.941T>A (p.Leu314Ter) c.827T>A (p.Leu276Ter) c.914T>A (p.Leu305Ter) n.744T>A n.305T>A c.962T>A (p.Leu321Ter) n.356T>A c.854T>A (p.Leu285Ter) c.257T>A (p.Leu86Ter) c.935T>A (p.Leu312Ter) | dbSNP |
| 21 | g.37490451T>C | CA409947904 | DYRK1A | c.941T>C (p.Leu314Ser) c.827T>C (p.Leu276Ser) c.914T>C (p.Leu305Ser) n.744T>C n.305T>C c.962T>C (p.Leu321Ser) n.356T>C c.854T>C (p.Leu285Ser) c.257T>C (p.Leu86Ser) c.935T>C (p.Leu312Ser) | |
| 21 | g.37490451T>G | CA409947905 | DYRK1A | c.941T>G (p.Leu314Trp) c.827T>G (p.Leu276Trp) c.914T>G (p.Leu305Trp) n.744T>G n.305T>G c.962T>G (p.Leu321Trp) n.356T>G c.854T>G (p.Leu285Trp) c.257T>G (p.Leu86Trp) c.935T>G (p.Leu312Trp) | |
| 21 | g.37490451T= | CA2388495825 | DYRK1A | c.941T= (p.Leu314=) c.827T= (p.Leu276=) c.914T= (p.Leu305=) n.744T= n.305T= c.962T= (p.Leu321=) n.356T= c.854T= (p.Leu285=) c.257T= (p.Leu86=) c.935T= (p.Leu312=) | |
| 21 | g.37490452G>A | CA512327949 | DYRK1A | c.942G>A (p.Leu314=) c.828G>A (p.Leu276=) c.915G>A (p.Leu305=) n.745G>A n.306G>A c.963G>A (p.Leu321=) n.357G>A c.855G>A (p.Leu285=) c.258G>A (p.Leu86=) c.936G>A (p.Leu312=) | |
| 21 | g.37490452G>C | CA409947906 | DYRK1A | c.942G>C (p.Leu314Phe) c.828G>C (p.Leu276Phe) c.915G>C (p.Leu305Phe) n.745G>C n.306G>C c.963G>C (p.Leu321Phe) n.357G>C c.855G>C (p.Leu285Phe) c.258G>C (p.Leu86Phe) c.936G>C (p.Leu312Phe) | ClinVar |
| 21 | g.37490452G>T | CA409947907 | DYRK1A | c.942G>T (p.Leu314Phe) c.828G>T (p.Leu276Phe) c.915G>T (p.Leu305Phe) n.745G>T n.306G>T c.963G>T (p.Leu321Phe) n.357G>T c.855G>T (p.Leu285Phe) c.258G>T (p.Leu86Phe) c.936G>T (p.Leu312Phe) | |
| 21 | g.37490455dup | CA278453 | DYRK1A | c.945dup (p.Gln316AlafsTer24) c.831dup (p.Gln278AlafsTer24) c.918dup (p.Gln307AlafsTer24) n.748dup n.309dup c.966dup (p.Gln323AlafsTer24) n.360dup c.858dup (p.Gln287AlafsTer24) c.261dup (p.Gln88AlafsTer24) c.939dup (p.Gln314AlafsTer24) | ClinVar dbSNP |
| 21 | g.37490453G>A | CA409947908 | DYRK1A | c.943G>A (p.Gly315Arg) c.829G>A (p.Gly277Arg) c.916G>A (p.Gly306Arg) n.746G>A n.307G>A c.964G>A (p.Gly322Arg) n.358G>A c.856G>A (p.Gly286Arg) c.259G>A (p.Gly87Arg) c.937G>A (p.Gly313Arg) | |
| 21 | g.37490453G>C | CA409947909 | DYRK1A | c.943G>C (p.Gly315Arg) c.829G>C (p.Gly277Arg) c.916G>C (p.Gly306Arg) n.746G>C n.307G>C c.964G>C (p.Gly322Arg) n.358G>C c.856G>C (p.Gly286Arg) c.259G>C (p.Gly87Arg) c.937G>C (p.Gly313Arg) | |
| 21 | g.37490453G>T | CA409947910 | DYRK1A | c.943G>T (p.Gly315Trp) c.829G>T (p.Gly277Trp) c.916G>T (p.Gly306Trp) n.746G>T n.307G>T c.964G>T (p.Gly322Trp) n.358G>T c.856G>T (p.Gly286Trp) c.259G>T (p.Gly87Trp) c.937G>T (p.Gly313Trp) | |
| 21 | g.37490454G>A | CA409947913 | DYRK1A | c.944G>A (p.Gly315Glu) c.830G>A (p.Gly277Glu) c.917G>A (p.Gly306Glu) n.747G>A n.308G>A c.965G>A (p.Gly322Glu) n.359G>A c.857G>A (p.Gly286Glu) c.260G>A (p.Gly87Glu) c.938G>A (p.Gly313Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.37490454G>C | CA409947911 | DYRK1A | c.944G>C (p.Gly315Ala) c.830G>C (p.Gly277Ala) c.917G>C (p.Gly306Ala) n.747G>C n.308G>C c.965G>C (p.Gly322Ala) n.359G>C c.857G>C (p.Gly286Ala) c.260G>C (p.Gly87Ala) c.938G>C (p.Gly313Ala) | |
| 21 | g.37490454G= | CA2388495826 | DYRK1A | c.944G= (p.Gly315=) c.830G= (p.Gly277=) c.917G= (p.Gly306=) n.747G= n.308G= c.965G= (p.Gly322=) n.359G= c.857G= (p.Gly286=) c.260G= (p.Gly87=) c.938G= (p.Gly313=) | |
| 21 | g.37490454G>T | CA409947912 | DYRK1A | c.944G>T (p.Gly315Val) c.830G>T (p.Gly277Val) c.917G>T (p.Gly306Val) n.747G>T n.308G>T c.965G>T (p.Gly322Val) n.359G>T c.857G>T (p.Gly286Val) c.260G>T (p.Gly87Val) c.938G>T (p.Gly313Val) | |
| 21 | g.37490455G>A | CA512327952 | DYRK1A | c.945G>A (p.Gly315=) c.831G>A (p.Gly277=) c.918G>A (p.Gly306=) n.748G>A n.309G>A c.966G>A (p.Gly322=) n.360G>A c.858G>A (p.Gly286=) c.261G>A (p.Gly87=) c.939G>A (p.Gly313=) | |
| 21 | g.37490455G>C | CA512327950 | DYRK1A | c.945G>C (p.Gly315=) c.831G>C (p.Gly277=) c.918G>C (p.Gly306=) n.748G>C n.309G>C c.966G>C (p.Gly322=) n.360G>C c.858G>C (p.Gly286=) c.261G>C (p.Gly87=) c.939G>C (p.Gly313=) | |
| 21 | g.37490455G>T | CA512327951 | DYRK1A | c.945G>T (p.Gly315=) c.831G>T (p.Gly277=) c.918G>T (p.Gly306=) n.748G>T n.309G>T c.966G>T (p.Gly322=) n.360G>T c.858G>T (p.Gly286=) c.261G>T (p.Gly87=) c.939G>T (p.Gly313=) | gnomAD v4 |
| 21 | g.37490456C>A | CA409947914 | DYRK1A | c.946C>A (p.Gln316Lys) c.832C>A (p.Gln278Lys) c.919C>A (p.Gln307Lys) n.749C>A n.310C>A c.967C>A (p.Gln323Lys) n.361C>A c.859C>A (p.Gln287Lys) c.262C>A (p.Gln88Lys) c.940C>A (p.Gln314Lys) | |
| 21 | g.37490456C= | CA2388495827 | DYRK1A | c.946C= (p.Gln316=) c.832C= (p.Gln278=) c.919C= (p.Gln307=) n.749C= n.310C= c.967C= (p.Gln323=) n.361C= c.859C= (p.Gln287=) c.262C= (p.Gln88=) c.940C= (p.Gln314=) | |
| 21 | g.37490456C>G | CA409947915 | DYRK1A | c.946C>G (p.Gln316Glu) c.832C>G (p.Gln278Glu) c.919C>G (p.Gln307Glu) n.749C>G n.310C>G c.967C>G (p.Gln323Glu) n.361C>G c.859C>G (p.Gln287Glu) c.262C>G (p.Gln88Glu) c.940C>G (p.Gln314Glu) | |
| 21 | g.37490456C>T | CA409947916 | DYRK1A | c.946C>T (p.Gln316Ter) c.832C>T (p.Gln278Ter) c.919C>T (p.Gln307Ter) n.749C>T n.310C>T c.967C>T (p.Gln323Ter) n.361C>T c.859C>T (p.Gln287Ter) c.262C>T (p.Gln88Ter) c.940C>T (p.Gln314Ter) | dbSNP |
| 21 | g.37490457A>C | CA409947917 | DYRK1A | c.947A>C (p.Gln316Pro) c.833A>C (p.Gln278Pro) c.920A>C (p.Gln307Pro) n.750A>C n.311A>C c.968A>C (p.Gln323Pro) n.362A>C c.860A>C (p.Gln287Pro) c.263A>C (p.Gln88Pro) c.941A>C (p.Gln314Pro) | |
| 21 | g.37490457A>G | CA409947918 | DYRK1A | c.947A>G (p.Gln316Arg) c.833A>G (p.Gln278Arg) c.920A>G (p.Gln307Arg) n.750A>G n.311A>G c.968A>G (p.Gln323Arg) n.362A>G c.860A>G (p.Gln287Arg) c.263A>G (p.Gln88Arg) c.941A>G (p.Gln314Arg) | |
| 21 | g.37490457A>T | CA409947919 | DYRK1A | c.947A>T (p.Gln316Leu) c.833A>T (p.Gln278Leu) c.920A>T (p.Gln307Leu) n.750A>T n.311A>T c.968A>T (p.Gln323Leu) n.362A>T c.860A>T (p.Gln287Leu) c.263A>T (p.Gln88Leu) c.941A>T (p.Gln314Leu) | |
| 21 | g.37490458G>A | CA512088870 | DYRK1A | c.948G>A (p.Gln316=) c.834G>A (p.Gln278=) c.921G>A (p.Gln307=) n.751G>A n.312G>A c.969G>A (p.Gln323=) n.363G>A c.861G>A (p.Gln287=) c.264G>A (p.Gln88=) c.942G>A (p.Gln314=) | |
| 21 | g.37490458G>C | CA409936014 | DYRK1A | c.948G>C (p.Gln316His) c.834G>C (p.Gln278His) c.921G>C (p.Gln307His) n.751G>C n.312G>C c.969G>C (p.Gln323His) n.363G>C c.861G>C (p.Gln287His) c.264G>C (p.Gln88His) c.942G>C (p.Gln314His) | |
| 21 | g.37490458G>T | CA409936015 | DYRK1A | c.948G>T (p.Gln316His) c.834G>T (p.Gln278His) c.921G>T (p.Gln307His) n.751G>T n.312G>T c.969G>T (p.Gln323His) n.363G>T c.861G>T (p.Gln287His) c.264G>T (p.Gln88His) c.942G>T (p.Gln314His) | |
| 21 | g.37490459A>C | CA512088871 | DYRK1A | c.949A>C (p.Arg317=) c.835A>C (p.Arg279=) c.922A>C (p.Arg308=) n.752A>C n.313A>C c.970A>C (p.Arg324=) n.364A>C c.862A>C (p.Arg288=) c.265A>C (p.Arg89=) c.943A>C (p.Arg315=) | |
| 21 | g.37490459A>G | CA409936016 | DYRK1A | c.949A>G (p.Arg317Gly) c.835A>G (p.Arg279Gly) c.922A>G (p.Arg308Gly) n.752A>G n.313A>G c.970A>G (p.Arg324Gly) n.364A>G c.862A>G (p.Arg288Gly) c.265A>G (p.Arg89Gly) c.943A>G (p.Arg315Gly) | |
| 21 | g.37490459A>T | CA409936017 | DYRK1A | c.949A>T (p.Arg317Trp) c.835A>T (p.Arg279Trp) c.922A>T (p.Arg308Trp) n.752A>T n.313A>T c.970A>T (p.Arg324Trp) n.364A>T c.862A>T (p.Arg288Trp) c.265A>T (p.Arg89Trp) c.943A>T (p.Arg315Trp) | |
| 21 | g.37490460G>A | CA409936018 | DYRK1A | c.950G>A (p.Arg317Lys) c.836G>A (p.Arg279Lys) c.923G>A (p.Arg308Lys) n.753G>A n.314G>A c.971G>A (p.Arg324Lys) n.365G>A c.863G>A (p.Arg288Lys) c.266G>A (p.Arg89Lys) c.944G>A (p.Arg315Lys) | |
| 21 | g.37490460G>C | CA409936019 | DYRK1A | c.950G>C (p.Arg317Thr) c.836G>C (p.Arg279Thr) c.923G>C (p.Arg308Thr) n.753G>C n.314G>C c.971G>C (p.Arg324Thr) n.365G>C c.863G>C (p.Arg288Thr) c.266G>C (p.Arg89Thr) c.944G>C (p.Arg315Thr) | |
| 21 | g.37490460G>T | CA409936020 | DYRK1A | c.950G>T (p.Arg317Met) c.836G>T (p.Arg279Met) c.923G>T (p.Arg308Met) n.753G>T n.314G>T c.971G>T (p.Arg324Met) n.365G>T c.863G>T (p.Arg288Met) c.266G>T (p.Arg89Met) c.944G>T (p.Arg315Met) | COSMIC COSMIC COSMIC |
| 21 | g.37490461G>A | CA512088872 | DYRK1A | c.951G>A (p.Arg317=) c.837G>A (p.Arg279=) c.924G>A (p.Arg308=) n.754G>A n.315G>A c.972G>A (p.Arg324=) n.366G>A c.864G>A (p.Arg288=) c.267G>A (p.Arg89=) c.945G>A (p.Arg315=) | |
| 21 | g.37490461G>C | CA409936022 | DYRK1A | c.951G>C (p.Arg317Ser) c.837G>C (p.Arg279Ser) c.924G>C (p.Arg308Ser) n.754G>C n.315G>C c.972G>C (p.Arg324Ser) n.366G>C c.864G>C (p.Arg288Ser) c.267G>C (p.Arg89Ser) c.945G>C (p.Arg315Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.37490461G= | CA2388495828 | DYRK1A | c.951G= (p.Arg317=) c.837G= (p.Arg279=) c.924G= (p.Arg308=) n.754G= n.315G= c.972G= (p.Arg324=) n.366G= c.864G= (p.Arg288=) c.267G= (p.Arg89=) c.945G= (p.Arg315=) | |
| 21 | g.37490461G>T | CA409936021 | DYRK1A | c.951G>T (p.Arg317Ser) c.837G>T (p.Arg279Ser) c.924G>T (p.Arg308Ser) n.754G>T n.315G>T c.972G>T (p.Arg324Ser) n.366G>T c.864G>T (p.Arg288Ser) c.267G>T (p.Arg89Ser) c.945G>T (p.Arg315Ser) | |
| 21 | g.37490461_37490465delinsGGTAA | CA2388495829 | DYRK1A | c.951_951+4delinsGGTAA c.837_837+4delinsGGTAA c.924_924+4delinsGGTAA n.754_754+4delinsGGTAA n.315_315+4delinsGGTAA c.972_972+4delinsGGTAA n.366_366+4delinsGGTAA c.864_864+4delinsGGTAA c.267_267+4delinsGGTAA c.945_945+4delinsGGTAA | |
| 21 | g.37490462G>A | CA409936023 | DYRK1A | c.951+1G>A (n.951+1G>A) c.837+1G>A (n.837+1G>A) c.924+1G>A (n.924+1G>A) n.754+1G>A n.315+1G>A c.972+1G>A (n.972+1G>A) n.366+1G>A c.864+1G>A (n.864+1G>A) c.267+1G>A (n.267+1G>A) c.945+1G>A (n.945+1G>A) | ClinVar dbSNP |
| 21 | g.37490462G>C | CA409936025 | DYRK1A | c.951+1G>C (n.951+1G>C) c.837+1G>C (n.837+1G>C) c.924+1G>C (n.924+1G>C) n.754+1G>C n.315+1G>C c.972+1G>C (n.972+1G>C) n.366+1G>C c.864+1G>C (n.864+1G>C) c.267+1G>C (n.267+1G>C) c.945+1G>C (n.945+1G>C) | ClinVar dbSNP |
| 21 | g.37490462G>T | CA409936024 | DYRK1A | c.951+1G>T (n.951+1G>T) c.837+1G>T (n.837+1G>T) c.924+1G>T (n.924+1G>T) n.754+1G>T n.315+1G>T c.972+1G>T (n.972+1G>T) n.366+1G>T c.864+1G>T (n.864+1G>T) c.267+1G>T (n.267+1G>T) c.945+1G>T (n.945+1G>T) | |
| 21 | g.37490465_37490468del | CA645372662 | DYRK1A | c.951+4_951+7del (n.951+4_951+7del) c.837+4_837+7del (n.837+4_837+7del) c.924+4_924+7del (n.924+4_924+7del) n.754+4_754+7del n.315+4_315+7del c.972+4_972+7del (n.972+4_972+7del) n.366+4_366+7del c.864+4_864+7del (n.864+4_864+7del) c.267+4_267+7del (n.267+4_267+7del) c.945+4_945+7del (n.945+4_945+7del) | ClinVar dbSNP |
| 21 | g.37490463T>A | CA409936026 | DYRK1A | c.951+2T>A (n.951+2T>A) c.837+2T>A (n.837+2T>A) c.924+2T>A (n.924+2T>A) n.754+2T>A n.315+2T>A c.972+2T>A (n.972+2T>A) n.366+2T>A c.864+2T>A (n.864+2T>A) c.267+2T>A (n.267+2T>A) c.945+2T>A (n.945+2T>A) | ClinVar dbSNP |
| 21 | g.37490463T>C | CA409936027 | DYRK1A | c.951+2T>C (n.951+2T>C) c.837+2T>C (n.837+2T>C) c.924+2T>C (n.924+2T>C) n.754+2T>C n.315+2T>C c.972+2T>C (n.972+2T>C) n.366+2T>C c.864+2T>C (n.864+2T>C) c.267+2T>C (n.267+2T>C) c.945+2T>C (n.945+2T>C) | |
| 21 | g.37490463T>G | CA409936028 | DYRK1A | c.951+2T>G (n.951+2T>G) c.837+2T>G (n.837+2T>G) c.924+2T>G (n.924+2T>G) n.754+2T>G n.315+2T>G c.972+2T>G (n.972+2T>G) n.366+2T>G c.864+2T>G (n.864+2T>G) c.267+2T>G (n.267+2T>G) c.945+2T>G (n.945+2T>G) | |
| 21 | g.37490463T= | CA2388495830 | DYRK1A | c.951+2T= (n.951+2T=) c.837+2T= (n.837+2T=) c.924+2T= (n.924+2T=) n.754+2T= n.315+2T= c.972+2T= (n.972+2T=) n.366+2T= c.864+2T= (n.864+2T=) c.267+2T= (n.267+2T=) c.945+2T= (n.945+2T=) | |
| 21 | g.37490464A= | CA2388495831 | DYRK1A | c.951+3A= (n.951+3A=) c.837+3A= (n.837+3A=) c.924+3A= (n.924+3A=) n.754+3A= n.315+3A= c.972+3A= (n.972+3A=) n.366+3A= c.864+3A= (n.864+3A=) c.267+3A= (n.267+3A=) c.945+3A= (n.945+3A=) | |
| 21 | g.37490464A>G | CA10023868 | DYRK1A | c.951+3A>G (n.951+3A>G) c.837+3A>G (n.837+3A>G) c.924+3A>G (n.924+3A>G) n.754+3A>G n.315+3A>G c.972+3A>G (n.972+3A>G) n.366+3A>G c.864+3A>G (n.864+3A>G) c.267+3A>G (n.267+3A>G) c.945+3A>G (n.945+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37490466G>A | CA2695230166 | DYRK1A | c.951+5G>A (n.951+5G>A) c.837+5G>A (n.837+5G>A) c.924+5G>A (n.924+5G>A) n.754+5G>A n.315+5G>A c.972+5G>A (n.972+5G>A) n.366+5G>A c.864+5G>A (n.864+5G>A) c.267+5G>A (n.267+5G>A) c.945+5G>A (n.945+5G>A) | ClinVar |
| 21 | g.37490466G>T | CA2739267637 | DYRK1A | c.951+5G>T (n.951+5G>T) c.837+5G>T (n.837+5G>T) c.924+5G>T (n.924+5G>T) n.754+5G>T n.315+5G>T c.972+5G>T (n.972+5G>T) n.366+5G>T c.864+5G>T (n.864+5G>T) c.267+5G>T (n.267+5G>T) c.945+5G>T (n.945+5G>T) | ClinVar |
| 21 | g.37490467T>C | CA2654481495 | DYRK1A | c.951+6T>C (n.951+6T>C) c.837+6T>C (n.837+6T>C) c.924+6T>C (n.924+6T>C) n.754+6T>C n.315+6T>C c.972+6T>C (n.972+6T>C) n.366+6T>C c.864+6T>C (n.864+6T>C) c.267+6T>C (n.267+6T>C) c.945+6T>C (n.945+6T>C) | gnomAD v4 |
| 21 | g.37490468A= | CA2388495832 | DYRK1A | c.951+7A= (n.951+7A=) c.837+7A= (n.837+7A=) c.924+7A= (n.924+7A=) n.754+7A= n.315+7A= c.972+7A= (n.972+7A=) n.366+7A= c.864+7A= (n.864+7A=) c.267+7A= (n.267+7A=) c.945+7A= (n.945+7A=) | |
| 21 | g.37490468A>G | CA10023869 | DYRK1A | c.951+7A>G (n.951+7A>G) c.837+7A>G (n.837+7A>G) c.924+7A>G (n.924+7A>G) n.754+7A>G n.315+7A>G c.972+7A>G (n.972+7A>G) n.366+7A>G c.864+7A>G (n.864+7A>G) c.267+7A>G (n.267+7A>G) c.945+7A>G (n.945+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37490468_37490469delinsAT | CA2388495833 | DYRK1A | c.951+7_951+8delinsAT (n.951+7_951+8delinsAT) c.837+7_837+8delinsAT (n.837+7_837+8delinsAT) c.924+7_924+8delinsAT (n.924+7_924+8delinsAT) n.754+7_754+8delinsAT n.315+7_315+8delinsAT c.972+7_972+8delinsAT (n.972+7_972+8delinsAT) n.366+7_366+8delinsAT c.864+7_864+8delinsAT (n.864+7_864+8delinsAT) c.267+7_267+8delinsAT (n.267+7_267+8delinsAT) c.945+7_945+8delinsAT (n.945+7_945+8delinsAT) | |
| 21 | g.37490469_37490476del | CA2817845512 | DYRK1A | c.951+8_951+15del (n.951+8_951+15del) c.837+8_837+15del (n.837+8_837+15del) c.924+8_924+15del (n.924+8_924+15del) n.754+8_754+15del n.315+8_315+15del c.972+8_972+15del (n.972+8_972+15del) n.366+8_366+15del c.864+8_864+15del (n.864+8_864+15del) c.267+8_267+15del (n.267+8_267+15del) c.945+8_945+15del (n.945+8_945+15del) | |
| 21 | g.37490469T>G | CA2654481496 | DYRK1A | c.951+8T>G (n.951+8T>G) c.837+8T>G (n.837+8T>G) c.924+8T>G (n.924+8T>G) n.754+8T>G n.315+8T>G c.972+8T>G (n.972+8T>G) n.366+8T>G c.864+8T>G (n.864+8T>G) c.267+8T>G (n.267+8T>G) c.945+8T>G (n.945+8T>G) | gnomAD v4 |
| 21 | g.37490470del | CA2388495834 | DYRK1A | c.951+9del (n.951+9del) c.837+9del (n.837+9del) c.924+9del (n.924+9del) n.754+9del n.315+9del c.972+9del (n.972+9del) n.366+9del c.864+9del (n.864+9del) c.267+9del (n.267+9del) c.945+9del (n.945+9del) | dbSNP |
| 21 | g.37490473T>A | CA2388495836 | DYRK1A | c.951+12T>A (n.951+12T>A) c.837+12T>A (n.837+12T>A) c.924+12T>A (n.924+12T>A) n.754+12T>A n.315+12T>A c.972+12T>A (n.972+12T>A) n.366+12T>A c.864+12T>A (n.864+12T>A) c.267+12T>A (n.267+12T>A) c.945+12T>A (n.945+12T>A) | ClinVar dbSNP |
| 21 | g.37490473T>C | CA1022232358 | DYRK1A | c.951+12T>C (n.951+12T>C) c.837+12T>C (n.837+12T>C) c.924+12T>C (n.924+12T>C) n.754+12T>C n.315+12T>C c.972+12T>C (n.972+12T>C) n.366+12T>C c.864+12T>C (n.864+12T>C) c.267+12T>C (n.267+12T>C) c.945+12T>C (n.945+12T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.37490473T= | CA2388495835 | DYRK1A | c.951+12T= (n.951+12T=) c.837+12T= (n.837+12T=) c.924+12T= (n.924+12T=) n.754+12T= n.315+12T= c.972+12T= (n.972+12T=) n.366+12T= c.864+12T= (n.864+12T=) c.267+12T= (n.267+12T=) c.945+12T= (n.945+12T=) | |
| 21 | g.37490474T>G | CA2388495838 | DYRK1A | c.951+13T>G (n.951+13T>G) c.837+13T>G (n.837+13T>G) c.924+13T>G (n.924+13T>G) n.754+13T>G n.315+13T>G c.972+13T>G (n.972+13T>G) n.366+13T>G c.864+13T>G (n.864+13T>G) c.267+13T>G (n.267+13T>G) c.945+13T>G (n.945+13T>G) | dbSNP |
| 21 | g.37490474T= | CA2388495837 | DYRK1A | c.951+13T= (n.951+13T=) c.837+13T= (n.837+13T=) c.924+13T= (n.924+13T=) n.754+13T= n.315+13T= c.972+13T= (n.972+13T=) n.366+13T= c.864+13T= (n.864+13T=) c.267+13T= (n.267+13T=) c.945+13T= (n.945+13T=) | |
| 21 | g.37490475C= | CA2388495839 | DYRK1A | c.951+14C= (n.951+14C=) c.837+14C= (n.837+14C=) c.924+14C= (n.924+14C=) n.754+14C= n.315+14C= c.972+14C= (n.972+14C=) n.366+14C= c.864+14C= (n.864+14C=) c.267+14C= (n.267+14C=) c.945+14C= (n.945+14C=) | |
| 21 | g.37490475C>T | CA10023870 | DYRK1A | c.951+14C>T (n.951+14C>T) c.837+14C>T (n.837+14C>T) c.924+14C>T (n.924+14C>T) n.754+14C>T n.315+14C>T c.972+14C>T (n.972+14C>T) n.366+14C>T c.864+14C>T (n.864+14C>T) c.267+14C>T (n.267+14C>T) c.945+14C>T (n.945+14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.37490475_37490476del | CA2568643116 | DYRK1A | c.951+14_951+15del (n.951+14_951+15del) c.837+14_837+15del (n.837+14_837+15del) c.924+14_924+15del (n.924+14_924+15del) n.754+14_754+15del n.315+14_315+15del c.972+14_972+15del (n.972+14_972+15del) n.366+14_366+15del c.864+14_864+15del (n.864+14_864+15del) c.267+14_267+15del (n.267+14_267+15del) c.945+14_945+15del (n.945+14_945+15del) | |
| 21 | g.37490476A>G | CA2654481497 | DYRK1A | c.951+15A>G (n.951+15A>G) c.837+15A>G (n.837+15A>G) c.924+15A>G (n.924+15A>G) n.754+15A>G n.315+15A>G c.972+15A>G (n.972+15A>G) n.366+15A>G c.864+15A>G (n.864+15A>G) c.267+15A>G (n.267+15A>G) c.945+15A>G (n.945+15A>G) | gnomAD v4 |
| 21 | g.37490476_37490477insTTT | CA2566357938 | DYRK1A | c.951+15_951+16insTTT (n.951+15_951+16insTTT) c.837+15_837+16insTTT (n.837+15_837+16insTTT) c.924+15_924+16insTTT (n.924+15_924+16insTTT) n.754+15_754+16insTTT n.315+15_315+16insTTT c.972+15_972+16insTTT (n.972+15_972+16insTTT) n.366+15_366+16insTTT c.864+15_864+16insTTT (n.864+15_864+16insTTT) c.267+15_267+16insTTT (n.267+15_267+16insTTT) c.945+15_945+16insTTT (n.945+15_945+16insTTT) | |
| 21 | g.37490477G>T | CA2577601784 | DYRK1A | c.951+16G>T (n.951+16G>T) c.837+16G>T (n.837+16G>T) c.924+16G>T (n.924+16G>T) n.754+16G>T n.315+16G>T c.972+16G>T (n.972+16G>T) n.366+16G>T c.864+16G>T (n.864+16G>T) c.267+16G>T (n.267+16G>T) c.945+16G>T (n.945+16G>T) | |
| 21 | g.37490480C>A | CA2654481498 | DYRK1A | c.951+19C>A (n.951+19C>A) c.837+19C>A (n.837+19C>A) c.924+19C>A (n.924+19C>A) n.754+19C>A n.315+19C>A c.972+19C>A (n.972+19C>A) n.366+19C>A c.864+19C>A (n.864+19C>A) c.267+19C>A (n.267+19C>A) c.945+19C>A (n.945+19C>A) | gnomAD v4 |
| 21 | g.37490481T>G | CA2737830757 | DYRK1A | c.951+20T>G (n.951+20T>G) c.837+20T>G (n.837+20T>G) c.924+20T>G (n.924+20T>G) n.754+20T>G n.315+20T>G c.972+20T>G (n.972+20T>G) n.366+20T>G c.864+20T>G (n.864+20T>G) c.267+20T>G (n.267+20T>G) c.945+20T>G (n.945+20T>G) | dbSNP |
| 21 | g.37490483del | CA2577601785 | DYRK1A | c.951+22del (n.951+22del) c.837+22del (n.837+22del) c.924+22del (n.924+22del) n.754+22del n.315+22del c.972+22del (n.972+22del) n.366+22del c.864+22del (n.864+22del) c.267+22del (n.267+22del) c.945+22del (n.945+22del) | |
| 21 | g.37490483G>A | CA10023871 | DYRK1A | c.951+22G>A (n.951+22G>A) c.837+22G>A (n.837+22G>A) c.924+22G>A (n.924+22G>A) n.754+22G>A n.315+22G>A c.972+22G>A (n.972+22G>A) n.366+22G>A c.864+22G>A (n.864+22G>A) c.267+22G>A (n.267+22G>A) c.945+22G>A (n.945+22G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37490483G= | CA2388495840 | DYRK1A | c.951+22G= (n.951+22G=) c.837+22G= (n.837+22G=) c.924+22G= (n.924+22G=) n.754+22G= n.315+22G= c.972+22G= (n.972+22G=) n.366+22G= c.864+22G= (n.864+22G=) c.267+22G= (n.267+22G=) c.945+22G= (n.945+22G=) | |
| 21 | g.37490485G>T | CA2654481499 | DYRK1A | c.951+24G>T (n.951+24G>T) c.837+24G>T (n.837+24G>T) c.924+24G>T (n.924+24G>T) n.754+24G>T n.315+24G>T c.972+24G>T (n.972+24G>T) n.366+24G>T c.864+24G>T (n.864+24G>T) c.267+24G>T (n.267+24G>T) c.945+24G>T (n.945+24G>T) | gnomAD v4 |
| 21 | g.37490485_37490496delinsGAATTAAATAGA | CA2388495841 | DYRK1A | c.951+24_951+35delinsGAATTAAATAGA (n.951+24_951+35delinsGAATTAAATAGA) c.837+24_837+35delinsGAATTAAATAGA (n.837+24_837+35delinsGAATTAAATAGA) c.924+24_924+35delinsGAATTAAATAGA (n.924+24_924+35delinsGAATTAAATAGA) n.754+24_754+35delinsGAATTAAATAGA n.315+24_315+35delinsGAATTAAATAGA c.972+24_972+35delinsGAATTAAATAGA (n.972+24_972+35delinsGAATTAAATAGA) n.366+24_366+35delinsGAATTAAATAGA c.864+24_864+35delinsGAATTAAATAGA (n.864+24_864+35delinsGAATTAAATAGA) c.267+24_267+35delinsGAATTAAATAGA (n.267+24_267+35delinsGAATTAAATAGA) c.945+24_945+35delinsGAATTAAATAGA (n.945+24_945+35delinsGAATTAAATAGA) | |
| 21 | g.37490498_37490508del | CA10023872 | DYRK1A | c.951+37_951+47del (n.951+37_951+47del) c.837+37_837+47del (n.837+37_837+47del) c.924+37_924+47del (n.924+37_924+47del) n.754+37_754+47del n.315+37_315+47del c.972+37_972+47del (n.972+37_972+47del) n.366+37_366+47del c.864+37_864+47del (n.864+37_864+47del) c.267+37_267+47del (n.267+37_267+47del) c.945+37_945+47del (n.945+37_945+47del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37490487A>C | CA2817845517 | DYRK1A | c.951+26A>C (n.951+26A>C) c.837+26A>C (n.837+26A>C) c.924+26A>C (n.924+26A>C) n.754+26A>C n.315+26A>C c.972+26A>C (n.972+26A>C) n.366+26A>C c.864+26A>C (n.864+26A>C) c.267+26A>C (n.267+26A>C) c.945+26A>C (n.945+26A>C) | |
| 21 | g.37490488T>A | CA2817845518 | DYRK1A | c.951+27T>A (n.951+27T>A) c.837+27T>A (n.837+27T>A) c.924+27T>A (n.924+27T>A) n.754+27T>A n.315+27T>A c.972+27T>A (n.972+27T>A) n.366+27T>A c.864+27T>A (n.864+27T>A) c.267+27T>A (n.267+27T>A) c.945+27T>A (n.945+27T>A) | |
| 21 | g.37490491A>T | CA2654481500 | DYRK1A | c.951+30A>T (n.951+30A>T) c.837+30A>T (n.837+30A>T) c.924+30A>T (n.924+30A>T) n.754+30A>T n.315+30A>T c.972+30A>T (n.972+30A>T) n.366+30A>T c.864+30A>T (n.864+30A>T) c.267+30A>T (n.267+30A>T) c.945+30A>T (n.945+30A>T) | gnomAD v4 |
| 21 | g.37490492A= | CA2388495842 | DYRK1A | c.951+31A= (n.951+31A=) c.837+31A= (n.837+31A=) c.924+31A= (n.924+31A=) n.754+31A= n.315+31A= c.972+31A= (n.972+31A=) n.366+31A= c.864+31A= (n.864+31A=) c.267+31A= (n.267+31A=) c.945+31A= (n.945+31A=) | |
| 21 | g.37490492A>T | CA2388495843 | DYRK1A | c.951+31A>T (n.951+31A>T) c.837+31A>T (n.837+31A>T) c.924+31A>T (n.924+31A>T) n.754+31A>T n.315+31A>T c.972+31A>T (n.972+31A>T) n.366+31A>T c.864+31A>T (n.864+31A>T) c.267+31A>T (n.267+31A>T) c.945+31A>T (n.945+31A>T) | dbSNP |
| 21 | g.37490493T>C | CA10023873 | DYRK1A | c.951+32T>C (n.951+32T>C) c.837+32T>C (n.837+32T>C) c.924+32T>C (n.924+32T>C) n.754+32T>C n.315+32T>C c.972+32T>C (n.972+32T>C) n.366+32T>C c.864+32T>C (n.864+32T>C) c.267+32T>C (n.267+32T>C) c.945+32T>C (n.945+32T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37490493T= | CA2388495844 | DYRK1A | c.951+32T= (n.951+32T=) c.837+32T= (n.837+32T=) c.924+32T= (n.924+32T=) n.754+32T= n.315+32T= c.972+32T= (n.972+32T=) n.366+32T= c.864+32T= (n.864+32T=) c.267+32T= (n.267+32T=) c.945+32T= (n.945+32T=) | |
| 21 | g.37490495G>A | CA2534255540 | DYRK1A | c.951+34G>A (n.951+34G>A) c.837+34G>A (n.837+34G>A) c.924+34G>A (n.924+34G>A) n.754+34G>A n.315+34G>A c.972+34G>A (n.972+34G>A) n.366+34G>A c.864+34G>A (n.864+34G>A) c.267+34G>A (n.267+34G>A) c.945+34G>A (n.945+34G>A) | gnomAD v4 |
| 21 | g.37490495G= | CA2388495845 | DYRK1A | c.951+34G= (n.951+34G=) c.837+34G= (n.837+34G=) c.924+34G= (n.924+34G=) n.754+34G= n.315+34G= c.972+34G= (n.972+34G=) n.366+34G= c.864+34G= (n.864+34G=) c.267+34G= (n.267+34G=) c.945+34G= (n.945+34G=) | |
| 21 | g.37490495G>T | CA2388495846 | DYRK1A | c.951+34G>T (n.951+34G>T) c.837+34G>T (n.837+34G>T) c.924+34G>T (n.924+34G>T) n.754+34G>T n.315+34G>T c.972+34G>T (n.972+34G>T) n.366+34G>T c.864+34G>T (n.864+34G>T) c.267+34G>T (n.267+34G>T) c.945+34G>T (n.945+34G>T) | dbSNP gnomAD v4 |