Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.37505344dupCA2695230170DYRK1Ac.1301dup (p.Gly435TrpfsTer14)
c.1187dup (p.Gly397TrpfsTer?)
c.1274dup (p.Gly426TrpfsTer14)
n.1104dup
n.665dup
c.1349dup (p.Gly451TrpfsTer14)
n.716dup
n.4019dup
c.1187dup (p.Gly397TrpfsTer14)
c.1214dup (p.Gly406TrpfsTer14)
c.617dup (p.Gly207TrpfsTer14)
c.1322dup (p.Gly442TrpfsTer14)
c.1295dup (p.Gly433TrpfsTer14)
21g.37505344C>ACA409938090DYRK1Ac.1301C>A (p.Pro434His)
c.1187C>A (p.Pro396His)
c.1274C>A (p.Pro425His)
n.1104C>A
n.665C>A
c.1349C>A (p.Pro450His)
n.716C>A
n.4019C>A
c.1214C>A (p.Pro405His)
c.617C>A (p.Pro206His)
c.1322C>A (p.Pro441His)
c.1295C>A (p.Pro432His)
21g.37505344C=CA2388503361DYRK1Ac.1301C= (p.Pro434=)
c.1187C= (p.Pro396=)
c.1274C= (p.Pro425=)
n.1104C=
n.665C=
c.1349C= (p.Pro450=)
n.716C=
n.4019C=
c.1214C= (p.Pro405=)
c.617C= (p.Pro206=)
c.1322C= (p.Pro441=)
c.1295C= (p.Pro432=)
21g.37505344C>GCA409938091DYRK1Ac.1301C>G (p.Pro434Arg)
c.1187C>G (p.Pro396Arg)
c.1274C>G (p.Pro425Arg)
n.1104C>G
n.665C>G
c.1349C>G (p.Pro450Arg)
n.716C>G
n.4019C>G
c.1214C>G (p.Pro405Arg)
c.617C>G (p.Pro206Arg)
c.1322C>G (p.Pro441Arg)
c.1295C>G (p.Pro432Arg)
21g.37505344C>TCA409938093DYRK1Ac.1301C>T (p.Pro434Leu)
c.1187C>T (p.Pro396Leu)
c.1274C>T (p.Pro425Leu)
n.1104C>T
n.665C>T
c.1349C>T (p.Pro450Leu)
n.716C>T
n.4019C>T
c.1214C>T (p.Pro405Leu)
c.617C>T (p.Pro206Leu)
c.1322C>T (p.Pro441Leu)
c.1295C>T (p.Pro432Leu)
21g.37505345T>ACA512327863DYRK1Ac.1302T>A (p.Pro434=)
c.1188T>A (p.Pro396=)
c.1275T>A (p.Pro425=)
n.1105T>A
n.666T>A
c.1350T>A (p.Pro450=)
n.717T>A
n.4020T>A
c.1215T>A (p.Pro405=)
c.618T>A (p.Pro206=)
c.1323T>A (p.Pro441=)
c.1296T>A (p.Pro432=)
21g.37505345T>CCA512327864DYRK1Ac.1302T>C (p.Pro434=)
c.1188T>C (p.Pro396=)
c.1275T>C (p.Pro425=)
n.1105T>C
n.666T>C
c.1350T>C (p.Pro450=)
n.717T>C
n.4020T>C
c.1215T>C (p.Pro405=)
c.618T>C (p.Pro206=)
c.1323T>C (p.Pro441=)
c.1296T>C (p.Pro432=)
 gnomAD v4
21g.37505345T>GCA512327865DYRK1Ac.1302T>G (p.Pro434=)
c.1188T>G (p.Pro396=)
c.1275T>G (p.Pro425=)
n.1105T>G
n.666T>G
c.1350T>G (p.Pro450=)
n.717T>G
n.4020T>G
c.1215T>G (p.Pro405=)
c.618T>G (p.Pro206=)
c.1323T>G (p.Pro441=)
c.1296T>G (p.Pro432=)
21g.37505345dupCA658799444DYRK1Ac.1302dup (p.Gly435TrpfsTer14)
c.1188dup (p.Gly397TrpfsTer?)
c.1275dup (p.Gly426TrpfsTer14)
n.1105dup
n.666dup
c.1350dup (p.Gly451TrpfsTer14)
n.717dup
n.4020dup
c.1188dup (p.Gly397TrpfsTer14)
c.1215dup (p.Gly406TrpfsTer14)
c.618dup (p.Gly207TrpfsTer14)
c.1323dup (p.Gly442TrpfsTer14)
c.1296dup (p.Gly433TrpfsTer14)
 ClinVar dbSNP
21g.37505346G>ACA409938096DYRK1Ac.1303G>A (p.Gly435Ser)
c.1189G>A (p.Gly397Ser)
c.1276G>A (p.Gly426Ser)
n.1106G>A
n.667G>A
c.1351G>A (p.Gly451Ser)
n.718G>A
n.4021G>A
c.1216G>A (p.Gly406Ser)
c.619G>A (p.Gly207Ser)
c.1324G>A (p.Gly442Ser)
c.1297G>A (p.Gly433Ser)
21g.37505346G>CCA409938099DYRK1Ac.1303G>C (p.Gly435Arg)
c.1189G>C (p.Gly397Arg)
c.1276G>C (p.Gly426Arg)
n.1106G>C
n.667G>C
c.1351G>C (p.Gly451Arg)
n.718G>C
n.4021G>C
c.1216G>C (p.Gly406Arg)
c.619G>C (p.Gly207Arg)
c.1324G>C (p.Gly442Arg)
c.1297G>C (p.Gly433Arg)
21g.37505346G>TCA409938102DYRK1Ac.1303G>T (p.Gly435Cys)
c.1189G>T (p.Gly397Cys)
c.1276G>T (p.Gly426Cys)
n.1106G>T
n.667G>T
c.1351G>T (p.Gly451Cys)
n.718G>T
n.4021G>T
c.1216G>T (p.Gly406Cys)
c.619G>T (p.Gly207Cys)
c.1324G>T (p.Gly442Cys)
c.1297G>T (p.Gly433Cys)
21g.37505347G>ACA409938105DYRK1Ac.1304G>A (p.Gly435Asp)
c.1190G>A (p.Gly397Asp)
c.1277G>A (p.Gly426Asp)
n.1107G>A
n.668G>A
c.1352G>A (p.Gly451Asp)
n.719G>A
n.4022G>A
c.1217G>A (p.Gly406Asp)
c.620G>A (p.Gly207Asp)
c.1325G>A (p.Gly442Asp)
c.1298G>A (p.Gly433Asp)
 dbSNP gnomAD v4
21g.37505347G>CCA409938107DYRK1Ac.1304G>C (p.Gly435Ala)
c.1190G>C (p.Gly397Ala)
c.1277G>C (p.Gly426Ala)
n.1107G>C
n.668G>C
c.1352G>C (p.Gly451Ala)
n.719G>C
n.4022G>C
c.1217G>C (p.Gly406Ala)
c.620G>C (p.Gly207Ala)
c.1325G>C (p.Gly442Ala)
c.1298G>C (p.Gly433Ala)
21g.37505347G=CA2388503363DYRK1Ac.1304G= (p.Gly435=)
c.1190G= (p.Gly397=)
c.1277G= (p.Gly426=)
n.1107G=
n.668G=
c.1352G= (p.Gly451=)
n.719G=
n.4022G=
c.1217G= (p.Gly406=)
c.620G= (p.Gly207=)
c.1325G= (p.Gly442=)
c.1298G= (p.Gly433=)
21g.37505347G>TCA409938109DYRK1Ac.1304G>T (p.Gly435Val)
c.1190G>T (p.Gly397Val)
c.1277G>T (p.Gly426Val)
n.1107G>T
n.668G>T
c.1352G>T (p.Gly451Val)
n.719G>T
n.4022G>T
c.1217G>T (p.Gly406Val)
c.620G>T (p.Gly207Val)
c.1325G>T (p.Gly442Val)
c.1298G>T (p.Gly433Val)
21g.37505348delCA645608579DYRK1Ac.1305del (p.Arg437AspfsTer14)
c.1191del (p.Arg399AspfsTer?)
c.1278del (p.Arg428AspfsTer14)
n.1108del
n.669del
c.1353del (p.Arg453AspfsTer14)
n.720del
n.4023del
c.1191del (p.Arg399AspfsTer14)
c.1218del (p.Arg408AspfsTer14)
c.621del (p.Arg209AspfsTer14)
c.1326del (p.Arg444AspfsTer14)
c.1299del (p.Arg435AspfsTer14)
 COSMIC COSMIC
21g.37505348T>ACA512327866DYRK1Ac.1305T>A (p.Gly435=)
c.1191T>A (p.Gly397=)
c.1278T>A (p.Gly426=)
n.1108T>A
n.669T>A
c.1353T>A (p.Gly451=)
n.720T>A
n.4023T>A
c.1218T>A (p.Gly406=)
c.621T>A (p.Gly207=)
c.1326T>A (p.Gly442=)
c.1299T>A (p.Gly433=)
21g.37505348T>CCA512327867DYRK1Ac.1305T>C (p.Gly435=)
c.1191T>C (p.Gly397=)
c.1278T>C (p.Gly426=)
n.1108T>C
n.669T>C
c.1353T>C (p.Gly451=)
n.720T>C
n.4023T>C
c.1218T>C (p.Gly406=)
c.621T>C (p.Gly207=)
c.1326T>C (p.Gly442=)
c.1299T>C (p.Gly433=)
 dbSNP
21g.37505348T>GCA512327868DYRK1Ac.1305T>G (p.Gly435=)
c.1191T>G (p.Gly397=)
c.1278T>G (p.Gly426=)
n.1108T>G
n.669T>G
c.1353T>G (p.Gly451=)
n.720T>G
n.4023T>G
c.1218T>G (p.Gly406=)
c.621T>G (p.Gly207=)
c.1326T>G (p.Gly442=)
c.1299T>G (p.Gly433=)
21g.37505348T=CA2388503365DYRK1Ac.1305T= (p.Gly435=)
c.1191T= (p.Gly397=)
c.1278T= (p.Gly426=)
n.1108T=
n.669T=
c.1353T= (p.Gly451=)
n.720T=
n.4023T=
c.1218T= (p.Gly406=)
c.621T= (p.Gly207=)
c.1326T= (p.Gly442=)
c.1299T= (p.Gly433=)
21g.37505349G>ACA409938112DYRK1Ac.1306G>A (p.Gly436Arg)
c.1192G>A (p.Gly398Arg)
c.1279G>A (p.Gly427Arg)
n.1109G>A
n.670G>A
c.1354G>A (p.Gly452Arg)
n.721G>A
n.4024G>A
c.1219G>A (p.Gly407Arg)
c.622G>A (p.Gly208Arg)
c.1327G>A (p.Gly443Arg)
c.1300G>A (p.Gly434Arg)
21g.37505349G>CCA409938114DYRK1Ac.1306G>C (p.Gly436Arg)
c.1192G>C (p.Gly398Arg)
c.1279G>C (p.Gly427Arg)
n.1109G>C
n.670G>C
c.1354G>C (p.Gly452Arg)
n.721G>C
n.4024G>C
c.1219G>C (p.Gly407Arg)
c.622G>C (p.Gly208Arg)
c.1327G>C (p.Gly443Arg)
c.1300G>C (p.Gly434Arg)
21g.37505349G>TCA409938117DYRK1Ac.1306G>T (p.Gly436Trp)
c.1192G>T (p.Gly398Trp)
c.1279G>T (p.Gly427Trp)
n.1109G>T
n.670G>T
c.1354G>T (p.Gly452Trp)
n.721G>T
n.4024G>T
c.1219G>T (p.Gly407Trp)
c.622G>T (p.Gly208Trp)
c.1327G>T (p.Gly443Trp)
c.1300G>T (p.Gly434Trp)
21g.37505350G>ACA409938121DYRK1Ac.1307G>A (p.Gly436Glu)
c.1193G>A (p.Gly398Glu)
c.1280G>A (p.Gly427Glu)
n.1110G>A
n.671G>A
c.1355G>A (p.Gly452Glu)
n.722G>A
n.4025G>A
c.1220G>A (p.Gly407Glu)
c.623G>A (p.Gly208Glu)
c.1328G>A (p.Gly443Glu)
c.1301G>A (p.Gly434Glu)
21g.37505350G>CCA409938122DYRK1Ac.1307G>C (p.Gly436Ala)
c.1193G>C (p.Gly398Ala)
c.1280G>C (p.Gly427Ala)
n.1110G>C
n.671G>C
c.1355G>C (p.Gly452Ala)
n.722G>C
n.4025G>C
c.1220G>C (p.Gly407Ala)
c.623G>C (p.Gly208Ala)
c.1328G>C (p.Gly443Ala)
c.1301G>C (p.Gly434Ala)
21g.37505350G>TCA409938119DYRK1Ac.1307G>T (p.Gly436Val)
c.1193G>T (p.Gly398Val)
c.1280G>T (p.Gly427Val)
n.1110G>T
n.671G>T
c.1355G>T (p.Gly452Val)
n.722G>T
n.4025G>T
c.1220G>T (p.Gly407Val)
c.623G>T (p.Gly208Val)
c.1328G>T (p.Gly443Val)
c.1301G>T (p.Gly434Val)
21g.37505351G>ACA512327869DYRK1Ac.1308G>A (p.Gly436=)
c.1194G>A (p.Gly398=)
c.1281G>A (p.Gly427=)
n.1111G>A
n.672G>A
c.1356G>A (p.Gly452=)
n.723G>A
n.4026G>A
c.1221G>A (p.Gly407=)
c.624G>A (p.Gly208=)
c.1329G>A (p.Gly443=)
c.1302G>A (p.Gly434=)
 dbSNP gnomAD v2 gnomAD v4
21g.37505351G>CCA512327871DYRK1Ac.1308G>C (p.Gly436=)
c.1194G>C (p.Gly398=)
c.1281G>C (p.Gly427=)
n.1111G>C
n.672G>C
c.1356G>C (p.Gly452=)
n.723G>C
n.4026G>C
c.1221G>C (p.Gly407=)
c.624G>C (p.Gly208=)
c.1329G>C (p.Gly443=)
c.1302G>C (p.Gly434=)
21g.37505351G=CA2388503367DYRK1Ac.1308G= (p.Gly436=)
c.1194G= (p.Gly398=)
c.1281G= (p.Gly427=)
n.1111G=
n.672G=
c.1356G= (p.Gly452=)
n.723G=
n.4026G=
c.1221G= (p.Gly407=)
c.624G= (p.Gly208=)
c.1329G= (p.Gly443=)
c.1302G= (p.Gly434=)
21g.37505351G>TCA512327870DYRK1Ac.1308G>T (p.Gly436=)
c.1194G>T (p.Gly398=)
c.1281G>T (p.Gly427=)
n.1111G>T
n.672G>T
c.1356G>T (p.Gly452=)
n.723G>T
n.4026G>T
c.1221G>T (p.Gly407=)
c.624G>T (p.Gly208=)
c.1329G>T (p.Gly443=)
c.1302G>T (p.Gly434=)
21g.37505352C>ACA512327872DYRK1Ac.1309C>A (p.Arg437=)
c.1195C>A (p.Arg399=)
c.1282C>A (p.Arg428=)
n.1112C>A
n.673C>A
c.1357C>A (p.Arg453=)
n.724C>A
n.4027C>A
c.1222C>A (p.Arg408=)
c.625C>A (p.Arg209=)
c.1330C>A (p.Arg444=)
c.1303C>A (p.Arg435=)
21g.37505352C=CA2388503369DYRK1Ac.1309C= (p.Arg437=)
c.1195C= (p.Arg399=)
c.1282C= (p.Arg428=)
n.1112C=
n.673C=
c.1357C= (p.Arg453=)
n.724C=
n.4027C=
c.1222C= (p.Arg408=)
c.625C= (p.Arg209=)
c.1330C= (p.Arg444=)
c.1303C= (p.Arg435=)
21g.37505352C>GCA409938124DYRK1Ac.1309C>G (p.Arg437Gly)
c.1195C>G (p.Arg399Gly)
c.1282C>G (p.Arg428Gly)
n.1112C>G
n.673C>G
c.1357C>G (p.Arg453Gly)
n.724C>G
n.4027C>G
c.1222C>G (p.Arg408Gly)
c.625C>G (p.Arg209Gly)
c.1330C>G (p.Arg444Gly)
c.1303C>G (p.Arg435Gly)
21g.37505352C>TCA278454DYRK1Ac.1309C>T (p.Arg437Ter)
c.1195C>T (p.Arg399Ter)
c.1282C>T (p.Arg428Ter)
n.1112C>T
n.673C>T
c.1357C>T (p.Arg453Ter)
n.724C>T
n.4027C>T
c.1222C>T (p.Arg408Ter)
c.625C>T (p.Arg209Ter)
c.1330C>T (p.Arg444Ter)
c.1303C>T (p.Arg435Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC
21g.37505353G>ACA320464542DYRK1Ac.1310G>A (p.Arg437Gln)
c.1196G>A (p.Arg399Gln)
c.1283G>A (p.Arg428Gln)
n.1113G>A
n.674G>A
c.1358G>A (p.Arg453Gln)
n.725G>A
n.4028G>A
c.1223G>A (p.Arg408Gln)
c.626G>A (p.Arg209Gln)
c.1331G>A (p.Arg444Gln)
c.1304G>A (p.Arg435Gln)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
21g.37505353G>CCA409938131DYRK1Ac.1310G>C (p.Arg437Pro)
c.1196G>C (p.Arg399Pro)
c.1283G>C (p.Arg428Pro)
n.1113G>C
n.674G>C
c.1358G>C (p.Arg453Pro)
n.725G>C
n.4028G>C
c.1223G>C (p.Arg408Pro)
c.626G>C (p.Arg209Pro)
c.1331G>C (p.Arg444Pro)
c.1304G>C (p.Arg435Pro)
21g.37505353G=CA2388503371DYRK1Ac.1310G= (p.Arg437=)
c.1196G= (p.Arg399=)
c.1283G= (p.Arg428=)
n.1113G=
n.674G=
c.1358G= (p.Arg453=)
n.725G=
n.4028G=
c.1223G= (p.Arg408=)
c.626G= (p.Arg209=)
c.1331G= (p.Arg444=)
c.1304G= (p.Arg435=)
21g.37505353G>TCA409938133DYRK1Ac.1310G>T (p.Arg437Leu)
c.1196G>T (p.Arg399Leu)
c.1283G>T (p.Arg428Leu)
n.1113G>T
n.674G>T
c.1358G>T (p.Arg453Leu)
n.725G>T
n.4028G>T
c.1223G>T (p.Arg408Leu)
c.626G>T (p.Arg209Leu)
c.1331G>T (p.Arg444Leu)
c.1304G>T (p.Arg435Leu)
21g.37505354A>CCA512327876DYRK1Ac.1311A>C (p.Arg437=)
c.1197A>C (p.Arg399=)
c.1284A>C (p.Arg428=)
n.1114A>C
n.675A>C
c.1359A>C (p.Arg453=)
n.726A>C
n.4029A>C
c.1224A>C (p.Arg408=)
c.627A>C (p.Arg209=)
c.1332A>C (p.Arg444=)
c.1305A>C (p.Arg435=)
21g.37505354A>GCA512327874DYRK1Ac.1311A>G (p.Arg437=)
c.1197A>G (p.Arg399=)
c.1284A>G (p.Arg428=)
n.1114A>G
n.675A>G
c.1359A>G (p.Arg453=)
n.726A>G
n.4029A>G
c.1224A>G (p.Arg408=)
c.627A>G (p.Arg209=)
c.1332A>G (p.Arg444=)
c.1305A>G (p.Arg435=)
21g.37505354A>TCA512327875DYRK1Ac.1311A>T (p.Arg437=)
c.1197A>T (p.Arg399=)
c.1284A>T (p.Arg428=)
n.1114A>T
n.675A>T
c.1359A>T (p.Arg453=)
n.726A>T
n.4029A>T
c.1224A>T (p.Arg408=)
c.627A>T (p.Arg209=)
c.1332A>T (p.Arg444=)
c.1305A>T (p.Arg435=)
21g.37505355C>ACA409938139DYRK1Ac.1312C>A (p.Arg438Ser)
c.1198C>A (p.Arg400Ser)
c.1285C>A (p.Arg429Ser)
n.1115C>A
n.676C>A
c.1360C>A (p.Arg454Ser)
n.727C>A
n.4030C>A
c.1225C>A (p.Arg409Ser)
c.628C>A (p.Arg210Ser)
c.1333C>A (p.Arg445Ser)
c.1306C>A (p.Arg436Ser)
21g.37505355C=CA2388503374DYRK1Ac.1312C= (p.Arg438=)
c.1198C= (p.Arg400=)
c.1285C= (p.Arg429=)
n.1115C=
n.676C=
c.1360C= (p.Arg454=)
n.727C=
n.4030C=
c.1225C= (p.Arg409=)
c.628C= (p.Arg210=)
c.1333C= (p.Arg445=)
c.1306C= (p.Arg436=)
21g.37505355C>GCA409938137DYRK1Ac.1312C>G (p.Arg438Gly)
c.1198C>G (p.Arg400Gly)
c.1285C>G (p.Arg429Gly)
n.1115C>G
n.676C>G
c.1360C>G (p.Arg454Gly)
n.727C>G
n.4030C>G
c.1225C>G (p.Arg409Gly)
c.628C>G (p.Arg210Gly)
c.1333C>G (p.Arg445Gly)
c.1306C>G (p.Arg436Gly)
21g.37505355C>TCA10023962DYRK1Ac.1312C>T (p.Arg438Cys)
c.1198C>T (p.Arg400Cys)
c.1285C>T (p.Arg429Cys)
n.1115C>T
n.676C>T
c.1360C>T (p.Arg454Cys)
n.727C>T
n.4030C>T
c.1225C>T (p.Arg409Cys)
c.628C>T (p.Arg210Cys)
c.1333C>T (p.Arg445Cys)
c.1306C>T (p.Arg436Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
21g.37505356G>ACA409938141DYRK1Ac.1313G>A (p.Arg438His)
c.1199G>A (p.Arg400His)
c.1286G>A (p.Arg429His)
n.1116G>A
n.677G>A
c.1361G>A (p.Arg454His)
n.728G>A
n.4031G>A
c.1226G>A (p.Arg409His)
c.629G>A (p.Arg210His)
c.1334G>A (p.Arg445His)
c.1307G>A (p.Arg436His)
 ClinVar dbSNP gnomAD v2 COSMIC COSMIC
21g.37505356G>CCA409938143DYRK1Ac.1313G>C (p.Arg438Pro)
c.1199G>C (p.Arg400Pro)
c.1286G>C (p.Arg429Pro)
n.1116G>C
n.677G>C
c.1361G>C (p.Arg454Pro)
n.728G>C
n.4031G>C
c.1226G>C (p.Arg409Pro)
c.629G>C (p.Arg210Pro)
c.1334G>C (p.Arg445Pro)
c.1307G>C (p.Arg436Pro)
21g.37505356G=CA2388503376DYRK1Ac.1313G= (p.Arg438=)
c.1199G= (p.Arg400=)
c.1286G= (p.Arg429=)
n.1116G=
n.677G=
c.1361G= (p.Arg454=)
n.728G=
n.4031G=
c.1226G= (p.Arg409=)
c.629G= (p.Arg210=)
c.1334G= (p.Arg445=)
c.1307G= (p.Arg436=)
21g.37505356G>TCA409938145DYRK1Ac.1313G>T (p.Arg438Leu)
c.1199G>T (p.Arg400Leu)
c.1286G>T (p.Arg429Leu)
n.1116G>T
n.677G>T
c.1361G>T (p.Arg454Leu)
n.728G>T
n.4031G>T
c.1226G>T (p.Arg409Leu)
c.629G>T (p.Arg210Leu)
c.1334G>T (p.Arg445Leu)
c.1307G>T (p.Arg436Leu)
 gnomAD v4
21g.37505357T>ACA512327879DYRK1Ac.1314T>A (p.Arg438=)
c.1200T>A (p.Arg400=)
c.1287T>A (p.Arg429=)
n.1117T>A
n.678T>A
c.1362T>A (p.Arg454=)
n.729T>A
n.4032T>A
c.1227T>A (p.Arg409=)
c.630T>A (p.Arg210=)
c.1335T>A (p.Arg445=)
c.1308T>A (p.Arg436=)
21g.37505357T>CCA512327880DYRK1Ac.1314T>C (p.Arg438=)
c.1200T>C (p.Arg400=)
c.1287T>C (p.Arg429=)
n.1117T>C
n.678T>C
c.1362T>C (p.Arg454=)
n.729T>C
n.4032T>C
c.1227T>C (p.Arg409=)
c.630T>C (p.Arg210=)
c.1335T>C (p.Arg445=)
c.1308T>C (p.Arg436=)
21g.37505357T>GCA512327881DYRK1Ac.1314T>G (p.Arg438=)
c.1200T>G (p.Arg400=)
c.1287T>G (p.Arg429=)
n.1117T>G
n.678T>G
c.1362T>G (p.Arg454=)
n.729T>G
n.4032T>G
c.1227T>G (p.Arg409=)
c.630T>G (p.Arg210=)
c.1335T>G (p.Arg445=)
c.1308T>G (p.Arg436=)
 gnomAD v4
21g.37505358G>ACA409938147DYRK1Ac.1315G>A (p.Ala439Thr)
c.1288G>A (p.Ala430Thr)
n.679G>A
c.1363G>A (p.Ala455Thr)
n.730G>A
n.4033G>A
c.1201G>A (p.Ala401Thr)
c.1228G>A (p.Ala410Thr)
c.631G>A (p.Ala211Thr)
c.1336G>A (p.Ala446Thr)
c.1309G>A (p.Ala437Thr)
21g.37505358G>CCA409938149DYRK1Ac.1315G>C (p.Ala439Pro)
c.1288G>C (p.Ala430Pro)
n.679G>C
c.1363G>C (p.Ala455Pro)
n.730G>C
n.4033G>C
c.1201G>C (p.Ala401Pro)
c.1228G>C (p.Ala410Pro)
c.631G>C (p.Ala211Pro)
c.1336G>C (p.Ala446Pro)
c.1309G>C (p.Ala437Pro)
21g.37505358G>TCA409938151DYRK1Ac.1315G>T (p.Ala439Ser)
c.1288G>T (p.Ala430Ser)
n.679G>T
c.1363G>T (p.Ala455Ser)
n.730G>T
n.4033G>T
c.1201G>T (p.Ala401Ser)
c.1228G>T (p.Ala410Ser)
c.631G>T (p.Ala211Ser)
c.1336G>T (p.Ala446Ser)
c.1309G>T (p.Ala437Ser)
 gnomAD v4
21g.37505358_37505359delinsGCCA2388503240DYRK1Ac.1315_1316delinsGC (p.Ala439=)
c.1288_1289delinsGC (p.Ala430=)
n.679_680delinsGC
c.1363_1364delinsGC (p.Ala455=)
n.730_731delinsGC
n.4033_4034delinsGC
c.1201_1202delinsGC (p.Ala401=)
c.1228_1229delinsGC (p.Ala410=)
c.631_632delinsGC (p.Ala211=)
c.1336_1337delinsGC (p.Ala446=)
c.1309_1310delinsGC (p.Ala437=)
21g.37505359delCA1139666861DYRK1Ac.1316del (p.Ala439ValfsTer12)
c.1289del (p.Ala430ValfsTer12)
n.680del
c.1364del (p.Ala455ValfsTer12)
n.731del
n.4034del
c.1202del (p.Ala401ValfsTer12)
c.1229del (p.Ala410ValfsTer12)
c.632del (p.Ala211ValfsTer12)
c.1337del (p.Ala446ValfsTer12)
c.1310del (p.Ala437ValfsTer12)
 ClinVar dbSNP
21g.37505359C>ACA409938158DYRK1Ac.1316C>A (p.Ala439Asp)
c.1289C>A (p.Ala430Asp)
n.680C>A
c.1364C>A (p.Ala455Asp)
n.731C>A
n.4034C>A
c.1202C>A (p.Ala401Asp)
c.1229C>A (p.Ala410Asp)
c.632C>A (p.Ala211Asp)
c.1337C>A (p.Ala446Asp)
c.1310C>A (p.Ala437Asp)
 ClinVar
21g.37505359C=CA2388503242DYRK1Ac.1316C= (p.Ala439=)
c.1289C= (p.Ala430=)
n.680C=
c.1364C= (p.Ala455=)
n.731C=
n.4034C=
c.1202C= (p.Ala401=)
c.1229C= (p.Ala410=)
c.632C= (p.Ala211=)
c.1337C= (p.Ala446=)
c.1310C= (p.Ala437=)
21g.37505359C>GCA409938154DYRK1Ac.1316C>G (p.Ala439Gly)
c.1289C>G (p.Ala430Gly)
n.680C>G
c.1364C>G (p.Ala455Gly)
n.731C>G
n.4034C>G
c.1202C>G (p.Ala401Gly)
c.1229C>G (p.Ala410Gly)
c.632C>G (p.Ala211Gly)
c.1337C>G (p.Ala446Gly)
c.1310C>G (p.Ala437Gly)
 gnomAD v4
21g.37505359C>TCA409938156DYRK1Ac.1316C>T (p.Ala439Val)
c.1289C>T (p.Ala430Val)
n.680C>T
c.1364C>T (p.Ala455Val)
n.731C>T
n.4034C>T
c.1202C>T (p.Ala401Val)
c.1229C>T (p.Ala410Val)
c.632C>T (p.Ala211Val)
c.1337C>T (p.Ala446Val)
c.1310C>T (p.Ala437Val)
 dbSNP gnomAD v4
21g.37505360T>ACA512327885DYRK1Ac.1317T>A (p.Ala439=)
c.1290T>A (p.Ala430=)
n.681T>A
c.1365T>A (p.Ala455=)
n.732T>A
n.4035T>A
c.1203T>A (p.Ala401=)
c.1230T>A (p.Ala410=)
c.633T>A (p.Ala211=)
c.1338T>A (p.Ala446=)
c.1311T>A (p.Ala437=)
21g.37505360T>CCA512327886DYRK1Ac.1317T>C (p.Ala439=)
c.1290T>C (p.Ala430=)
n.681T>C
c.1365T>C (p.Ala455=)
n.732T>C
n.4035T>C
c.1203T>C (p.Ala401=)
c.1230T>C (p.Ala410=)
c.633T>C (p.Ala211=)
c.1338T>C (p.Ala446=)
c.1311T>C (p.Ala437=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37505360T>GCA512327887DYRK1Ac.1317T>G (p.Ala439=)
c.1290T>G (p.Ala430=)
n.681T>G
c.1365T>G (p.Ala455=)
n.732T>G
n.4035T>G
c.1203T>G (p.Ala401=)
c.1230T>G (p.Ala410=)
c.633T>G (p.Ala211=)
c.1338T>G (p.Ala446=)
c.1311T>G (p.Ala437=)
21g.37505360T=CA2388503243DYRK1Ac.1317T= (p.Ala439=)
c.1290T= (p.Ala430=)
n.681T=
c.1365T= (p.Ala455=)
n.732T=
n.4035T=
c.1203T= (p.Ala401=)
c.1230T= (p.Ala410=)
c.633T= (p.Ala211=)
c.1338T= (p.Ala446=)
c.1311T= (p.Ala437=)
21g.37505360_37505364delCA2695230171DYRK1Ac.1317_1321del (p.Gly440ValfsTer7)
c.1290_1294del (p.Gly431ValfsTer7)
n.681_685del
c.1365_1369del (p.Gly456ValfsTer7)
n.732_736del
n.4035_4039del
c.1203_1207del (p.Gly402ValfsTer7)
c.1230_1234del (p.Gly411ValfsTer7)
c.633_637del (p.Gly212ValfsTer7)
c.1338_1342del (p.Gly447ValfsTer7)
c.1311_1315del (p.Gly438ValfsTer7)
21g.37505361G>ACA409938160DYRK1Ac.1318G>A (p.Gly440Arg)
c.1291G>A (p.Gly431Arg)
n.682G>A
c.1366G>A (p.Gly456Arg)
n.733G>A
n.4036G>A
c.1204G>A (p.Gly402Arg)
c.1231G>A (p.Gly411Arg)
c.634G>A (p.Gly212Arg)
c.1339G>A (p.Gly447Arg)
c.1312G>A (p.Gly438Arg)
21g.37505361G>CCA409938163DYRK1Ac.1318G>C (p.Gly440Arg)
c.1291G>C (p.Gly431Arg)
n.682G>C
c.1366G>C (p.Gly456Arg)
n.733G>C
n.4036G>C
c.1204G>C (p.Gly402Arg)
c.1231G>C (p.Gly411Arg)
c.634G>C (p.Gly212Arg)
c.1339G>C (p.Gly447Arg)
c.1312G>C (p.Gly438Arg)
21g.37505361G>TCA409938161DYRK1Ac.1318G>T (p.Gly440Trp)
c.1291G>T (p.Gly431Trp)
n.682G>T
c.1366G>T (p.Gly456Trp)
n.733G>T
n.4036G>T
c.1204G>T (p.Gly402Trp)
c.1231G>T (p.Gly411Trp)
c.634G>T (p.Gly212Trp)
c.1339G>T (p.Gly447Trp)
c.1312G>T (p.Gly438Trp)
21g.37505362G>ACA409938164DYRK1Ac.1319G>A (p.Gly440Glu)
c.1292G>A (p.Gly431Glu)
n.683G>A
c.1367G>A (p.Gly456Glu)
n.734G>A
n.4037G>A
c.1205G>A (p.Gly402Glu)
c.1232G>A (p.Gly411Glu)
c.635G>A (p.Gly212Glu)
c.1340G>A (p.Gly447Glu)
c.1313G>A (p.Gly438Glu)
21g.37505362G>CCA409938166DYRK1Ac.1319G>C (p.Gly440Ala)
c.1292G>C (p.Gly431Ala)
n.683G>C
c.1367G>C (p.Gly456Ala)
n.734G>C
n.4037G>C
c.1205G>C (p.Gly402Ala)
c.1232G>C (p.Gly411Ala)
c.635G>C (p.Gly212Ala)
c.1340G>C (p.Gly447Ala)
c.1313G>C (p.Gly438Ala)
21g.37505362G>TCA409938168DYRK1Ac.1319G>T (p.Gly440Val)
c.1292G>T (p.Gly431Val)
n.683G>T
c.1367G>T (p.Gly456Val)
n.734G>T
n.4037G>T
c.1205G>T (p.Gly402Val)
c.1232G>T (p.Gly411Val)
c.635G>T (p.Gly212Val)
c.1340G>T (p.Gly447Val)
c.1313G>T (p.Gly438Val)
21g.37505363G>ACA512327889DYRK1Ac.1320G>A (p.Gly440=)
c.1293G>A (p.Gly431=)
n.684G>A
c.1368G>A (p.Gly456=)
n.735G>A
n.4038G>A
c.1206G>A (p.Gly402=)
c.1233G>A (p.Gly411=)
c.636G>A (p.Gly212=)
c.1341G>A (p.Gly447=)
c.1314G>A (p.Gly438=)
21g.37505363G>CCA512327890DYRK1Ac.1320G>C (p.Gly440=)
c.1293G>C (p.Gly431=)
n.684G>C
c.1368G>C (p.Gly456=)
n.735G>C
n.4038G>C
c.1206G>C (p.Gly402=)
c.1233G>C (p.Gly411=)
c.636G>C (p.Gly212=)
c.1341G>C (p.Gly447=)
c.1314G>C (p.Gly438=)
21g.37505363G>TCA512327891DYRK1Ac.1320G>T (p.Gly440=)
c.1293G>T (p.Gly431=)
n.684G>T
c.1368G>T (p.Gly456=)
n.735G>T
n.4038G>T
c.1206G>T (p.Gly402=)
c.1233G>T (p.Gly411=)
c.636G>T (p.Gly212=)
c.1341G>T (p.Gly447=)
c.1314G>T (p.Gly438=)
21g.37505364G>ACA409938170DYRK1Ac.1321G>A (p.Glu441Lys)
c.1294G>A (p.Glu432Lys)
n.685G>A
c.1369G>A (p.Glu457Lys)
n.736G>A
n.4039G>A
c.1207G>A (p.Glu403Lys)
c.1234G>A (p.Glu412Lys)
c.637G>A (p.Glu213Lys)
c.1342G>A (p.Glu448Lys)
c.1315G>A (p.Glu439Lys)
21g.37505364G>CCA409938171DYRK1Ac.1321G>C (p.Glu441Gln)
c.1294G>C (p.Glu432Gln)
n.685G>C
c.1369G>C (p.Glu457Gln)
n.736G>C
n.4039G>C
c.1207G>C (p.Glu403Gln)
c.1234G>C (p.Glu412Gln)
c.637G>C (p.Glu213Gln)
c.1342G>C (p.Glu448Gln)
c.1315G>C (p.Glu439Gln)
21g.37505364G=CA2388503244DYRK1Ac.1321G= (p.Glu441=)
c.1294G= (p.Glu432=)
n.685G=
c.1369G= (p.Glu457=)
n.736G=
n.4039G=
c.1207G= (p.Glu403=)
c.1234G= (p.Glu412=)
c.637G= (p.Glu213=)
c.1342G= (p.Glu448=)
c.1315G= (p.Glu439=)
21g.37505364G>TCA409938173DYRK1Ac.1321G>T (p.Glu441Ter)
c.1294G>T (p.Glu432Ter)
n.685G>T
c.1369G>T (p.Glu457Ter)
n.736G>T
n.4039G>T
c.1207G>T (p.Glu403Ter)
c.1234G>T (p.Glu412Ter)
c.637G>T (p.Glu213Ter)
c.1342G>T (p.Glu448Ter)
c.1315G>T (p.Glu439Ter)
 dbSNP
21g.37505365A>CCA409938176DYRK1Ac.1322A>C (p.Glu441Ala)
c.1295A>C (p.Glu432Ala)
n.686A>C
c.1370A>C (p.Glu457Ala)
n.737A>C
n.4040A>C
c.1208A>C (p.Glu403Ala)
c.1235A>C (p.Glu412Ala)
c.638A>C (p.Glu213Ala)
c.1343A>C (p.Glu448Ala)
c.1316A>C (p.Glu439Ala)
21g.37505365A>GCA409938177DYRK1Ac.1322A>G (p.Glu441Gly)
c.1295A>G (p.Glu432Gly)
n.686A>G
c.1370A>G (p.Glu457Gly)
n.737A>G
n.4040A>G
c.1208A>G (p.Glu403Gly)
c.1235A>G (p.Glu412Gly)
c.638A>G (p.Glu213Gly)
c.1343A>G (p.Glu448Gly)
c.1316A>G (p.Glu439Gly)
21g.37505365A>TCA409938179DYRK1Ac.1322A>T (p.Glu441Val)
c.1295A>T (p.Glu432Val)
n.686A>T
c.1370A>T (p.Glu457Val)
n.737A>T
n.4040A>T
c.1208A>T (p.Glu403Val)
c.1235A>T (p.Glu412Val)
c.638A>T (p.Glu213Val)
c.1343A>T (p.Glu448Val)
c.1316A>T (p.Glu439Val)
21g.37505366G>ACA512327892DYRK1Ac.1323G>A (p.Glu441=)
c.1296G>A (p.Glu432=)
n.687G>A
c.1371G>A (p.Glu457=)
n.738G>A
n.4041G>A
c.1209G>A (p.Glu403=)
c.1236G>A (p.Glu412=)
c.639G>A (p.Glu213=)
c.1344G>A (p.Glu448=)
c.1317G>A (p.Glu439=)
21g.37505366G>CCA409938181DYRK1Ac.1323G>C (p.Glu441Asp)
c.1296G>C (p.Glu432Asp)
n.687G>C
c.1371G>C (p.Glu457Asp)
n.738G>C
n.4041G>C
c.1209G>C (p.Glu403Asp)
c.1236G>C (p.Glu412Asp)
c.639G>C (p.Glu213Asp)
c.1344G>C (p.Glu448Asp)
c.1317G>C (p.Glu439Asp)
21g.37505366G>TCA409938183DYRK1Ac.1323G>T (p.Glu441Asp)
c.1296G>T (p.Glu432Asp)
n.687G>T
c.1371G>T (p.Glu457Asp)
n.738G>T
n.4041G>T
c.1209G>T (p.Glu403Asp)
c.1236G>T (p.Glu412Asp)
c.639G>T (p.Glu213Asp)
c.1344G>T (p.Glu448Asp)
c.1317G>T (p.Glu439Asp)
21g.37505367T>ACA409938189DYRK1Ac.1324T>A (p.Ser442Thr)
c.1297T>A (p.Ser433Thr)
n.688T>A
c.1372T>A (p.Ser458Thr)
n.739T>A
n.4042T>A
c.1210T>A (p.Ser404Thr)
c.1237T>A (p.Ser413Thr)
c.640T>A (p.Ser214Thr)
c.1345T>A (p.Ser449Thr)
c.1318T>A (p.Ser440Thr)
 gnomAD v4
21g.37505367T>CCA409938187DYRK1Ac.1324T>C (p.Ser442Pro)
c.1297T>C (p.Ser433Pro)
n.688T>C
c.1372T>C (p.Ser458Pro)
n.739T>C
n.4042T>C
c.1210T>C (p.Ser404Pro)
c.1237T>C (p.Ser413Pro)
c.640T>C (p.Ser214Pro)
c.1345T>C (p.Ser449Pro)
c.1318T>C (p.Ser440Pro)
21g.37505367T>GCA409938185DYRK1Ac.1324T>G (p.Ser442Ala)
c.1297T>G (p.Ser433Ala)
n.688T>G
c.1372T>G (p.Ser458Ala)
n.739T>G
n.4042T>G
c.1210T>G (p.Ser404Ala)
c.1237T>G (p.Ser413Ala)
c.640T>G (p.Ser214Ala)
c.1345T>G (p.Ser449Ala)
c.1318T>G (p.Ser440Ala)
21g.37505368C>ACA409938192DYRK1Ac.1325C>A (p.Ser442Ter)
c.1298C>A (p.Ser433Ter)
n.689C>A
c.1373C>A (p.Ser458Ter)
n.740C>A
n.4043C>A
c.1211C>A (p.Ser404Ter)
c.1238C>A (p.Ser413Ter)
c.641C>A (p.Ser214Ter)
c.1346C>A (p.Ser449Ter)
c.1319C>A (p.Ser440Ter)
21g.37505368C>GCA409938193DYRK1Ac.1325C>G (p.Ser442Ter)
c.1298C>G (p.Ser433Ter)
n.689C>G
c.1373C>G (p.Ser458Ter)
n.740C>G
n.4043C>G
c.1211C>G (p.Ser404Ter)
c.1238C>G (p.Ser413Ter)
c.641C>G (p.Ser214Ter)
c.1346C>G (p.Ser449Ter)
c.1319C>G (p.Ser440Ter)
21g.37505368C>TCA409938194DYRK1Ac.1325C>T (p.Ser442Leu)
c.1298C>T (p.Ser433Leu)
n.689C>T
c.1373C>T (p.Ser458Leu)
n.740C>T
n.4043C>T
c.1211C>T (p.Ser404Leu)
c.1238C>T (p.Ser413Leu)
c.641C>T (p.Ser214Leu)
c.1346C>T (p.Ser449Leu)
c.1319C>T (p.Ser440Leu)
21g.37505369A=CA2388503247DYRK1Ac.1326A= (p.Ser442=)
c.1299A= (p.Ser433=)
n.690A=
c.1374A= (p.Ser458=)
n.741A=
n.4044A=
c.1212A= (p.Ser404=)
c.1239A= (p.Ser413=)
c.642A= (p.Ser214=)
c.1347A= (p.Ser449=)
c.1320A= (p.Ser440=)
21g.37505369A>CCA512327894DYRK1Ac.1326A>C (p.Ser442=)
c.1299A>C (p.Ser433=)
n.690A>C
c.1374A>C (p.Ser458=)
n.741A>C
n.4044A>C
c.1212A>C (p.Ser404=)
c.1239A>C (p.Ser413=)
c.642A>C (p.Ser214=)
c.1347A>C (p.Ser449=)
c.1320A>C (p.Ser440=)
 dbSNP gnomAD v3 gnomAD v4
21g.37505369A>GCA10023963DYRK1Ac.1326A>G (p.Ser442=)
c.1299A>G (p.Ser433=)
n.690A>G
c.1374A>G (p.Ser458=)
n.741A>G
n.4044A>G
c.1212A>G (p.Ser404=)
c.1239A>G (p.Ser413=)
c.642A>G (p.Ser214=)
c.1347A>G (p.Ser449=)
c.1320A>G (p.Ser440=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37505369A>TCA512327895DYRK1Ac.1326A>T (p.Ser442=)
c.1299A>T (p.Ser433=)
n.690A>T
c.1374A>T (p.Ser458=)
n.741A>T
n.4044A>T
c.1212A>T (p.Ser404=)
c.1239A>T (p.Ser413=)
c.642A>T (p.Ser214=)
c.1347A>T (p.Ser449=)
c.1320A>T (p.Ser440=)
21g.37505370G>ACA409938197DYRK1Ac.1327G>A (p.Gly443Ser)
c.1300G>A (p.Gly434Ser)
n.691G>A
c.1375G>A (p.Gly459Ser)
n.742G>A
n.4045G>A
c.1213G>A (p.Gly405Ser)
c.1240G>A (p.Gly414Ser)
c.643G>A (p.Gly215Ser)
c.1348G>A (p.Gly450Ser)
c.1321G>A (p.Gly441Ser)
21g.37505370G>CCA409938199DYRK1Ac.1327G>C (p.Gly443Arg)
c.1300G>C (p.Gly434Arg)
n.691G>C
c.1375G>C (p.Gly459Arg)
n.742G>C
n.4045G>C
c.1213G>C (p.Gly405Arg)
c.1240G>C (p.Gly414Arg)
c.643G>C (p.Gly215Arg)
c.1348G>C (p.Gly450Arg)
c.1321G>C (p.Gly441Arg)
21g.37505370G>TCA409938200DYRK1Ac.1327G>T (p.Gly443Cys)
c.1300G>T (p.Gly434Cys)
n.691G>T
c.1375G>T (p.Gly459Cys)
n.742G>T
n.4045G>T
c.1213G>T (p.Gly405Cys)
c.1240G>T (p.Gly414Cys)
c.643G>T (p.Gly215Cys)
c.1348G>T (p.Gly450Cys)
c.1321G>T (p.Gly441Cys)
21g.37505371G>ACA409938202DYRK1Ac.1328G>A (p.Gly443Asp)
c.1301G>A (p.Gly434Asp)
n.692G>A
c.1376G>A (p.Gly459Asp)
n.743G>A
n.4046G>A
c.1214G>A (p.Gly405Asp)
c.1241G>A (p.Gly414Asp)
c.644G>A (p.Gly215Asp)
c.1349G>A (p.Gly450Asp)
c.1322G>A (p.Gly441Asp)
21g.37505371G>CCA409938203DYRK1Ac.1328G>C (p.Gly443Ala)
c.1301G>C (p.Gly434Ala)
n.692G>C
c.1376G>C (p.Gly459Ala)
n.743G>C
n.4046G>C
c.1214G>C (p.Gly405Ala)
c.1241G>C (p.Gly414Ala)
c.644G>C (p.Gly215Ala)
c.1349G>C (p.Gly450Ala)
c.1322G>C (p.Gly441Ala)
21g.37505371G>TCA409938204DYRK1Ac.1328G>T (p.Gly443Val)
c.1301G>T (p.Gly434Val)
n.692G>T
c.1376G>T (p.Gly459Val)
n.743G>T
n.4046G>T
c.1214G>T (p.Gly405Val)
c.1241G>T (p.Gly414Val)
c.644G>T (p.Gly215Val)
c.1349G>T (p.Gly450Val)
c.1322G>T (p.Gly441Val)
21g.37505372T>ACA512327898DYRK1Ac.1329T>A (p.Gly443=)
c.1302T>A (p.Gly434=)
n.693T>A
c.1377T>A (p.Gly459=)
n.744T>A
n.4047T>A
c.1215T>A (p.Gly405=)
c.1242T>A (p.Gly414=)
c.645T>A (p.Gly215=)
c.1350T>A (p.Gly450=)
c.1323T>A (p.Gly441=)
21g.37505372T>CCA512327899DYRK1Ac.1329T>C (p.Gly443=)
c.1302T>C (p.Gly434=)
n.693T>C
c.1377T>C (p.Gly459=)
n.744T>C
n.4047T>C
c.1215T>C (p.Gly405=)
c.1242T>C (p.Gly414=)
c.645T>C (p.Gly215=)
c.1350T>C (p.Gly450=)
c.1323T>C (p.Gly441=)
21g.37505372T>GCA512327900DYRK1Ac.1329T>G (p.Gly443=)
c.1302T>G (p.Gly434=)
n.693T>G
c.1377T>G (p.Gly459=)
n.744T>G
n.4047T>G
c.1215T>G (p.Gly405=)
c.1242T>G (p.Gly414=)
c.645T>G (p.Gly215=)
c.1350T>G (p.Gly450=)
c.1323T>G (p.Gly441=)
21g.37505373C>ACA409938207DYRK1Ac.1330C>A (p.His444Asn)
c.1303C>A (p.His435Asn)
n.694C>A
c.1378C>A (p.His460Asn)
n.745C>A
n.4048C>A
c.1216C>A (p.His406Asn)
c.1243C>A (p.His415Asn)
c.646C>A (p.His216Asn)
c.1351C>A (p.His451Asn)
c.1324C>A (p.His442Asn)
21g.37505373C>GCA409938208DYRK1Ac.1330C>G (p.His444Asp)
c.1303C>G (p.His435Asp)
n.694C>G
c.1378C>G (p.His460Asp)
n.745C>G
n.4048C>G
c.1216C>G (p.His406Asp)
c.1243C>G (p.His415Asp)
c.646C>G (p.His216Asp)
c.1351C>G (p.His451Asp)
c.1324C>G (p.His442Asp)
21g.37505373C>TCA409938210DYRK1Ac.1330C>T (p.His444Tyr)
c.1303C>T (p.His435Tyr)
n.694C>T
c.1378C>T (p.His460Tyr)
n.745C>T
n.4048C>T
c.1216C>T (p.His406Tyr)
c.1243C>T (p.His415Tyr)
c.646C>T (p.His216Tyr)
c.1351C>T (p.His451Tyr)
c.1324C>T (p.His442Tyr)
21g.37505374A=CA2388503251DYRK1Ac.1331A= (p.His444=)
c.1304A= (p.His435=)
n.695A=
c.1379A= (p.His460=)
n.746A=
n.4049A=
c.1217A= (p.His406=)
c.1244A= (p.His415=)
c.647A= (p.His216=)
c.1352A= (p.His451=)
c.1325A= (p.His442=)
21g.37505374A>CCA409938216DYRK1Ac.1331A>C (p.His444Pro)
c.1304A>C (p.His435Pro)
n.695A>C
c.1379A>C (p.His460Pro)
n.746A>C
n.4049A>C
c.1217A>C (p.His406Pro)
c.1244A>C (p.His415Pro)
c.647A>C (p.His216Pro)
c.1352A>C (p.His451Pro)
c.1325A>C (p.His442Pro)
21g.37505374A>GCA409938214DYRK1Ac.1331A>G (p.His444Arg)
c.1304A>G (p.His435Arg)
n.695A>G
c.1379A>G (p.His460Arg)
n.746A>G
n.4049A>G
c.1217A>G (p.His406Arg)
c.1244A>G (p.His415Arg)
c.647A>G (p.His216Arg)
c.1352A>G (p.His451Arg)
c.1325A>G (p.His442Arg)
21g.37505374A>TCA320464548DYRK1Ac.1331A>T (p.His444Leu)
c.1304A>T (p.His435Leu)
n.695A>T
c.1379A>T (p.His460Leu)
n.746A>T
n.4049A>T
c.1217A>T (p.His406Leu)
c.1244A>T (p.His415Leu)
c.647A>T (p.His216Leu)
c.1352A>T (p.His451Leu)
c.1325A>T (p.His442Leu)
 dbSNP
21g.37505375T>ACA409938219DYRK1Ac.1332T>A (p.His444Gln)
c.1305T>A (p.His435Gln)
n.696T>A
c.1380T>A (p.His460Gln)
n.747T>A
n.4050T>A
c.1218T>A (p.His406Gln)
c.1245T>A (p.His415Gln)
c.648T>A (p.His216Gln)
c.1353T>A (p.His451Gln)
c.1326T>A (p.His442Gln)
21g.37505375T>CCA512327901DYRK1Ac.1332T>C (p.His444=)
c.1305T>C (p.His435=)
n.696T>C
c.1380T>C (p.His460=)
n.747T>C
n.4050T>C
c.1218T>C (p.His406=)
c.1245T>C (p.His415=)
c.648T>C (p.His216=)
c.1353T>C (p.His451=)
c.1326T>C (p.His442=)
21g.37505375T>GCA409938218DYRK1Ac.1332T>G (p.His444Gln)
c.1305T>G (p.His435Gln)
n.696T>G
c.1380T>G (p.His460Gln)
n.747T>G
n.4050T>G
c.1218T>G (p.His406Gln)
c.1245T>G (p.His415Gln)
c.648T>G (p.His216Gln)
c.1353T>G (p.His451Gln)
c.1326T>G (p.His442Gln)
21g.37505375T=CA2388503254DYRK1Ac.1332T= (p.His444=)
c.1305T= (p.His435=)
n.696T=
c.1380T= (p.His460=)
n.747T=
n.4050T=
c.1218T= (p.His406=)
c.1245T= (p.His415=)
c.648T= (p.His216=)
c.1353T= (p.His451=)
c.1326T= (p.His442=)
21g.37505376A>CCA409938221DYRK1Ac.1333A>C (p.Thr445Pro)
c.1306A>C (p.Thr436Pro)
n.697A>C
c.1381A>C (p.Thr461Pro)
n.748A>C
n.4051A>C
c.1219A>C (p.Thr407Pro)
c.1246A>C (p.Thr416Pro)
c.649A>C (p.Thr217Pro)
c.1354A>C (p.Thr452Pro)
c.1327A>C (p.Thr443Pro)
21g.37505376A>GCA409938223DYRK1Ac.1333A>G (p.Thr445Ala)
c.1306A>G (p.Thr436Ala)
n.697A>G
c.1381A>G (p.Thr461Ala)
n.748A>G
n.4051A>G
c.1219A>G (p.Thr407Ala)
c.1246A>G (p.Thr416Ala)
c.649A>G (p.Thr217Ala)
c.1354A>G (p.Thr452Ala)
c.1327A>G (p.Thr443Ala)
21g.37505376A>TCA409938224DYRK1Ac.1333A>T (p.Thr445Ser)
c.1306A>T (p.Thr436Ser)
n.697A>T
c.1381A>T (p.Thr461Ser)
n.748A>T
n.4051A>T
c.1219A>T (p.Thr407Ser)
c.1246A>T (p.Thr416Ser)
c.649A>T (p.Thr217Ser)
c.1354A>T (p.Thr452Ser)
c.1327A>T (p.Thr443Ser)
21g.37505376dupCA658799445DYRK1Ac.1333dup (p.Thr445AsnfsTer4)
c.1306dup (p.Thr436AsnfsTer4)
n.697dup
c.1381dup (p.Thr461AsnfsTer4)
n.748dup
n.4051dup
c.1219dup (p.Thr407AsnfsTer4)
c.1246dup (p.Thr416AsnfsTer4)
c.649dup (p.Thr217AsnfsTer4)
c.1354dup (p.Thr452AsnfsTer4)
c.1327dup (p.Thr443AsnfsTer4)
 ClinVar dbSNP
21g.37505377C>ACA409938225DYRK1Ac.1334C>A (p.Thr445Lys)
c.1307C>A (p.Thr436Lys)
n.698C>A
c.1382C>A (p.Thr461Lys)
n.749C>A
n.4052C>A
c.1220C>A (p.Thr407Lys)
c.1247C>A (p.Thr416Lys)
c.650C>A (p.Thr217Lys)
c.1355C>A (p.Thr452Lys)
c.1328C>A (p.Thr443Lys)
21g.37505377C=CA2388503259DYRK1Ac.1334C= (p.Thr445=)
c.1307C= (p.Thr436=)
n.698C=
c.1382C= (p.Thr461=)
n.749C=
n.4052C=
c.1220C= (p.Thr407=)
c.1247C= (p.Thr416=)
c.650C= (p.Thr217=)
c.1355C= (p.Thr452=)
c.1328C= (p.Thr443=)
21g.37505377C>GCA409938227DYRK1Ac.1334C>G (p.Thr445Arg)
c.1307C>G (p.Thr436Arg)
n.698C>G
c.1382C>G (p.Thr461Arg)
n.749C>G
n.4052C>G
c.1220C>G (p.Thr407Arg)
c.1247C>G (p.Thr416Arg)
c.650C>G (p.Thr217Arg)
c.1355C>G (p.Thr452Arg)
c.1328C>G (p.Thr443Arg)
21g.37505377C>TCA10023964DYRK1Ac.1334C>T (p.Thr445Met)
c.1307C>T (p.Thr436Met)
n.698C>T
c.1382C>T (p.Thr461Met)
n.749C>T
n.4052C>T
c.1220C>T (p.Thr407Met)
c.1247C>T (p.Thr416Met)
c.650C>T (p.Thr217Met)
c.1355C>T (p.Thr452Met)
c.1328C>T (p.Thr443Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37505378G>ACA320464570DYRK1Ac.1335G>A (p.Thr445=)
c.1308G>A (p.Thr436=)
n.699G>A
c.1383G>A (p.Thr461=)
n.750G>A
n.4053G>A
c.1221G>A (p.Thr407=)
c.1248G>A (p.Thr416=)
c.651G>A (p.Thr217=)
c.1356G>A (p.Thr452=)
c.1329G>A (p.Thr443=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37505378G>CCA512327905DYRK1Ac.1335G>C (p.Thr445=)
c.1308G>C (p.Thr436=)
n.699G>C
c.1383G>C (p.Thr461=)
n.750G>C
n.4053G>C
c.1221G>C (p.Thr407=)
c.1248G>C (p.Thr416=)
c.651G>C (p.Thr217=)
c.1356G>C (p.Thr452=)
c.1329G>C (p.Thr443=)
21g.37505378G=CA2388503262DYRK1Ac.1335G= (p.Thr445=)
c.1308G= (p.Thr436=)
n.699G=
c.1383G= (p.Thr461=)
n.750G=
n.4053G=
c.1221G= (p.Thr407=)
c.1248G= (p.Thr416=)
c.651G= (p.Thr217=)
c.1356G= (p.Thr452=)
c.1329G= (p.Thr443=)
21g.37505378G>TCA512327906DYRK1Ac.1335G>T (p.Thr445=)
c.1308G>T (p.Thr436=)
n.699G>T
c.1383G>T (p.Thr461=)
n.750G>T
n.4053G>T
c.1221G>T (p.Thr407=)
c.1248G>T (p.Thr416=)
c.651G>T (p.Thr217=)
c.1356G>T (p.Thr452=)
c.1329G>T (p.Thr443=)
 ClinVar
21g.37505379G>ACA409938231DYRK1Ac.1336G>A (p.Val446Ile)
c.1309G>A (p.Val437Ile)
n.700G>A
c.1384G>A (p.Val462Ile)
n.751G>A
n.4054G>A
c.1222G>A (p.Val408Ile)
c.1249G>A (p.Val417Ile)
c.652G>A (p.Val218Ile)
c.1357G>A (p.Val453Ile)
c.1330G>A (p.Val444Ile)
21g.37505379G>CCA409938235DYRK1Ac.1336G>C (p.Val446Leu)
c.1309G>C (p.Val437Leu)
n.700G>C
c.1384G>C (p.Val462Leu)
n.751G>C
n.4054G>C
c.1222G>C (p.Val408Leu)
c.1249G>C (p.Val417Leu)
c.652G>C (p.Val218Leu)
c.1357G>C (p.Val453Leu)
c.1330G>C (p.Val444Leu)
 COSMIC COSMIC COSMIC
21g.37505379G>TCA409938233DYRK1Ac.1336G>T (p.Val446Phe)
c.1309G>T (p.Val437Phe)
n.700G>T
c.1384G>T (p.Val462Phe)
n.751G>T
n.4054G>T
c.1222G>T (p.Val408Phe)
c.1249G>T (p.Val417Phe)
c.652G>T (p.Val218Phe)
c.1357G>T (p.Val453Phe)
c.1330G>T (p.Val444Phe)
21g.37505380T>ACA409938237DYRK1Ac.1337T>A (p.Val446Asp)
c.1310T>A (p.Val437Asp)
n.701T>A
c.1385T>A (p.Val462Asp)
n.752T>A
n.4055T>A
c.1223T>A (p.Val408Asp)
c.1250T>A (p.Val417Asp)
c.653T>A (p.Val218Asp)
c.1358T>A (p.Val453Asp)
c.1331T>A (p.Val444Asp)
21g.37505380T>CCA409938240DYRK1Ac.1337T>C (p.Val446Ala)
c.1310T>C (p.Val437Ala)
n.701T>C
c.1385T>C (p.Val462Ala)
n.752T>C
n.4055T>C
c.1223T>C (p.Val408Ala)
c.1250T>C (p.Val417Ala)
c.653T>C (p.Val218Ala)
c.1358T>C (p.Val453Ala)
c.1331T>C (p.Val444Ala)
21g.37505380T>GCA409938241DYRK1Ac.1337T>G (p.Val446Gly)
c.1310T>G (p.Val437Gly)
n.701T>G
c.1385T>G (p.Val462Gly)
n.752T>G
n.4055T>G
c.1223T>G (p.Val408Gly)
c.1250T>G (p.Val417Gly)
c.653T>G (p.Val218Gly)
c.1358T>G (p.Val453Gly)
c.1331T>G (p.Val444Gly)
21g.37505381C>ACA512327908DYRK1Ac.1338C>A (p.Val446=)
c.1311C>A (p.Val437=)
n.702C>A
c.1386C>A (p.Val462=)
n.753C>A
n.4056C>A
c.1224C>A (p.Val408=)
c.1251C>A (p.Val417=)
c.654C>A (p.Val218=)
c.1359C>A (p.Val453=)
c.1332C>A (p.Val444=)
21g.37505381C=CA2388503269DYRK1Ac.1338C= (p.Val446=)
c.1311C= (p.Val437=)
n.702C=
c.1386C= (p.Val462=)
n.753C=
n.4056C=
c.1224C= (p.Val408=)
c.1251C= (p.Val417=)
c.654C= (p.Val218=)
c.1359C= (p.Val453=)
c.1332C= (p.Val444=)
21g.37505381C>GCA512327909DYRK1Ac.1338C>G (p.Val446=)
c.1311C>G (p.Val437=)
n.702C>G
c.1386C>G (p.Val462=)
n.753C>G
n.4056C>G
c.1224C>G (p.Val408=)
c.1251C>G (p.Val417=)
c.654C>G (p.Val218=)
c.1359C>G (p.Val453=)
c.1332C>G (p.Val444=)
21g.37505381C>TCA10023965DYRK1Ac.1338C>T (p.Val446=)
c.1311C>T (p.Val437=)
n.702C>T
c.1386C>T (p.Val462=)
n.753C>T
n.4056C>T
c.1224C>T (p.Val408=)
c.1251C>T (p.Val417=)
c.654C>T (p.Val218=)
c.1359C>T (p.Val453=)
c.1332C>T (p.Val444=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37505382G>ACA409938245DYRK1Ac.1339G>A (p.Ala447Thr)
c.1312G>A (p.Ala438Thr)
n.703G>A
c.1387G>A (p.Ala463Thr)
n.754G>A
n.4057G>A
c.1225G>A (p.Ala409Thr)
c.1252G>A (p.Ala418Thr)
c.655G>A (p.Ala219Thr)
c.1360G>A (p.Ala454Thr)
c.1333G>A (p.Ala445Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37505382G>CCA409938249DYRK1Ac.1339G>C (p.Ala447Pro)
c.1312G>C (p.Ala438Pro)
n.703G>C
c.1387G>C (p.Ala463Pro)
n.754G>C
n.4057G>C
c.1225G>C (p.Ala409Pro)
c.1252G>C (p.Ala418Pro)
c.655G>C (p.Ala219Pro)
c.1360G>C (p.Ala454Pro)
c.1333G>C (p.Ala445Pro)
21g.37505382G=CA2388503272DYRK1Ac.1339G= (p.Ala447=)
c.1312G= (p.Ala438=)
n.703G=
c.1387G= (p.Ala463=)
n.754G=
n.4057G=
c.1225G= (p.Ala409=)
c.1252G= (p.Ala418=)
c.655G= (p.Ala219=)
c.1360G= (p.Ala454=)
c.1333G= (p.Ala445=)
21g.37505382G>TCA409938246DYRK1Ac.1339G>T (p.Ala447Ser)
c.1312G>T (p.Ala438Ser)
n.703G>T
c.1387G>T (p.Ala463Ser)
n.754G>T
n.4057G>T
c.1225G>T (p.Ala409Ser)
c.1252G>T (p.Ala418Ser)
c.655G>T (p.Ala219Ser)
c.1360G>T (p.Ala454Ser)
c.1333G>T (p.Ala445Ser)
21g.37505383C>ACA409938251DYRK1Ac.1340C>A (p.Ala447Asp)
c.1313C>A (p.Ala438Asp)
n.704C>A
c.1388C>A (p.Ala463Asp)
n.755C>A
n.4058C>A
c.1226C>A (p.Ala409Asp)
c.1253C>A (p.Ala418Asp)
c.656C>A (p.Ala219Asp)
c.1361C>A (p.Ala454Asp)
c.1334C>A (p.Ala445Asp)
21g.37505383C>GCA409938253DYRK1Ac.1340C>G (p.Ala447Gly)
c.1313C>G (p.Ala438Gly)
n.704C>G
c.1388C>G (p.Ala463Gly)
n.755C>G
n.4058C>G
c.1226C>G (p.Ala409Gly)
c.1253C>G (p.Ala418Gly)
c.656C>G (p.Ala219Gly)
c.1361C>G (p.Ala454Gly)
c.1334C>G (p.Ala445Gly)
21g.37505383C>TCA409938255DYRK1Ac.1340C>T (p.Ala447Val)
c.1313C>T (p.Ala438Val)
n.704C>T
c.1388C>T (p.Ala463Val)
n.755C>T
n.4058C>T
c.1226C>T (p.Ala409Val)
c.1253C>T (p.Ala418Val)
c.656C>T (p.Ala219Val)
c.1361C>T (p.Ala454Val)
c.1334C>T (p.Ala445Val)
21g.37505384T>ACA512327913DYRK1Ac.1341T>A (p.Ala447=)
c.1314T>A (p.Ala438=)
n.705T>A
c.1389T>A (p.Ala463=)
n.756T>A
n.4059T>A
c.1227T>A (p.Ala409=)
c.1254T>A (p.Ala418=)
c.657T>A (p.Ala219=)
c.1362T>A (p.Ala454=)
c.1335T>A (p.Ala445=)
21g.37505384T>CCA512327914DYRK1Ac.1341T>C (p.Ala447=)
c.1314T>C (p.Ala438=)
n.705T>C
c.1389T>C (p.Ala463=)
n.756T>C
n.4059T>C
c.1227T>C (p.Ala409=)
c.1254T>C (p.Ala418=)
c.657T>C (p.Ala219=)
c.1362T>C (p.Ala454=)
c.1335T>C (p.Ala445=)
21g.37505384T>GCA512327915DYRK1Ac.1341T>G (p.Ala447=)
c.1314T>G (p.Ala438=)
n.705T>G
c.1389T>G (p.Ala463=)
n.756T>G
n.4059T>G
c.1227T>G (p.Ala409=)
c.1254T>G (p.Ala418=)
c.657T>G (p.Ala219=)
c.1362T>G (p.Ala454=)
c.1335T>G (p.Ala445=)
21g.37505385G>ACA409938258DYRK1Ac.1342G>A (p.Asp448Asn)
c.1315G>A (p.Asp439Asn)
n.706G>A
c.1390G>A (p.Asp464Asn)
n.757G>A
n.4060G>A
c.1228G>A (p.Asp410Asn)
c.1255G>A (p.Asp419Asn)
c.658G>A (p.Asp220Asn)
c.1363G>A (p.Asp455Asn)
c.1336G>A (p.Asp446Asn)
21g.37505385G>CCA409938259DYRK1Ac.1342G>C (p.Asp448His)
c.1315G>C (p.Asp439His)
n.706G>C
c.1390G>C (p.Asp464His)
n.757G>C
n.4060G>C
c.1228G>C (p.Asp410His)
c.1255G>C (p.Asp419His)
c.658G>C (p.Asp220His)
c.1363G>C (p.Asp455His)
c.1336G>C (p.Asp446His)
21g.37505385G>TCA409938260DYRK1Ac.1342G>T (p.Asp448Tyr)
c.1315G>T (p.Asp439Tyr)
n.706G>T
c.1390G>T (p.Asp464Tyr)
n.757G>T
n.4060G>T
c.1228G>T (p.Asp410Tyr)
c.1255G>T (p.Asp419Tyr)
c.658G>T (p.Asp220Tyr)
c.1363G>T (p.Asp455Tyr)
c.1336G>T (p.Asp446Tyr)
21g.37505386A>CCA409938263DYRK1Ac.1343A>C (p.Asp448Ala)
c.1316A>C (p.Asp439Ala)
n.707A>C
c.1391A>C (p.Asp464Ala)
n.758A>C
n.4061A>C
c.1229A>C (p.Asp410Ala)
c.1256A>C (p.Asp419Ala)
c.659A>C (p.Asp220Ala)
c.1364A>C (p.Asp455Ala)
c.1337A>C (p.Asp446Ala)
21g.37505386A>GCA409938265DYRK1Ac.1343A>G (p.Asp448Gly)
c.1316A>G (p.Asp439Gly)
n.707A>G
c.1391A>G (p.Asp464Gly)
n.758A>G
n.4061A>G
c.1229A>G (p.Asp410Gly)
c.1256A>G (p.Asp419Gly)
c.659A>G (p.Asp220Gly)
c.1364A>G (p.Asp455Gly)
c.1337A>G (p.Asp446Gly)
21g.37505386A>TCA409938267DYRK1Ac.1343A>T (p.Asp448Val)
c.1316A>T (p.Asp439Val)
n.707A>T
c.1391A>T (p.Asp464Val)
n.758A>T
n.4061A>T
c.1229A>T (p.Asp410Val)
c.1256A>T (p.Asp419Val)
c.659A>T (p.Asp220Val)
c.1364A>T (p.Asp455Val)
c.1337A>T (p.Asp446Val)
21g.37505387C>ACA409938270DYRK1Ac.1344C>A (p.Asp448Glu)
c.1317C>A (p.Asp439Glu)
n.708C>A
c.1392C>A (p.Asp464Glu)
n.759C>A
n.4062C>A
c.1230C>A (p.Asp410Glu)
c.1257C>A (p.Asp419Glu)
c.660C>A (p.Asp220Glu)
c.1365C>A (p.Asp455Glu)
c.1338C>A (p.Asp446Glu)
21g.37505387C=CA2388503274DYRK1Ac.1344C= (p.Asp448=)
c.1317C= (p.Asp439=)
n.708C=
c.1392C= (p.Asp464=)
n.759C=
n.4062C=
c.1230C= (p.Asp410=)
c.1257C= (p.Asp419=)
c.660C= (p.Asp220=)
c.1365C= (p.Asp455=)
c.1338C= (p.Asp446=)
21g.37505387C>GCA409938272DYRK1Ac.1344C>G (p.Asp448Glu)
c.1317C>G (p.Asp439Glu)
n.708C>G
c.1392C>G (p.Asp464Glu)
n.759C>G
n.4062C>G
c.1230C>G (p.Asp410Glu)
c.1257C>G (p.Asp419Glu)
c.660C>G (p.Asp220Glu)
c.1365C>G (p.Asp455Glu)
c.1338C>G (p.Asp446Glu)
21g.37505387C>TCA10023966DYRK1Ac.1344C>T (p.Asp448=)
c.1317C>T (p.Asp439=)
n.708C>T
c.1392C>T (p.Asp464=)
n.759C>T
n.4062C>T
c.1230C>T (p.Asp410=)
c.1257C>T (p.Asp419=)
c.660C>T (p.Asp220=)
c.1365C>T (p.Asp455=)
c.1338C>T (p.Asp446=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37505388T>ACA409938277DYRK1Ac.1345T>A (p.Tyr449Asn)
c.1318T>A (p.Tyr440Asn)
n.709T>A
c.1393T>A (p.Tyr465Asn)
n.760T>A
n.4063T>A
c.1231T>A (p.Tyr411Asn)
c.1258T>A (p.Tyr420Asn)
c.661T>A (p.Tyr221Asn)
c.1366T>A (p.Tyr456Asn)
c.1339T>A (p.Tyr447Asn)
21g.37505388T>CCA409938279DYRK1Ac.1345T>C (p.Tyr449His)
c.1318T>C (p.Tyr440His)
n.709T>C
c.1393T>C (p.Tyr465His)
n.760T>C
n.4063T>C
c.1231T>C (p.Tyr411His)
c.1258T>C (p.Tyr420His)
c.661T>C (p.Tyr221His)
c.1366T>C (p.Tyr456His)
c.1339T>C (p.Tyr447His)
21g.37505388T>GCA409938275DYRK1Ac.1345T>G (p.Tyr449Asp)
c.1318T>G (p.Tyr440Asp)
n.709T>G
c.1393T>G (p.Tyr465Asp)
n.760T>G
n.4063T>G
c.1231T>G (p.Tyr411Asp)
c.1258T>G (p.Tyr420Asp)
c.661T>G (p.Tyr221Asp)
c.1366T>G (p.Tyr456Asp)
c.1339T>G (p.Tyr447Asp)
21g.37505389A>CCA409938281DYRK1Ac.1346A>C (p.Tyr449Ser)
c.1319A>C (p.Tyr440Ser)
n.710A>C
c.1394A>C (p.Tyr465Ser)
n.761A>C
n.4064A>C
c.1232A>C (p.Tyr411Ser)
c.1259A>C (p.Tyr420Ser)
c.662A>C (p.Tyr221Ser)
c.1367A>C (p.Tyr456Ser)
c.1340A>C (p.Tyr447Ser)
21g.37505389A>GCA409938283DYRK1Ac.1346A>G (p.Tyr449Cys)
c.1319A>G (p.Tyr440Cys)
n.710A>G
c.1394A>G (p.Tyr465Cys)
n.761A>G
n.4064A>G
c.1232A>G (p.Tyr411Cys)
c.1259A>G (p.Tyr420Cys)
c.662A>G (p.Tyr221Cys)
c.1367A>G (p.Tyr456Cys)
c.1340A>G (p.Tyr447Cys)
21g.37505389A>TCA409938285DYRK1Ac.1346A>T (p.Tyr449Phe)
c.1319A>T (p.Tyr440Phe)
n.710A>T
c.1394A>T (p.Tyr465Phe)
n.761A>T
n.4064A>T
c.1232A>T (p.Tyr411Phe)
c.1259A>T (p.Tyr420Phe)
c.662A>T (p.Tyr221Phe)
c.1367A>T (p.Tyr456Phe)
c.1340A>T (p.Tyr447Phe)
21g.37505390C>ACA409938288DYRK1Ac.1347C>A (p.Tyr449Ter)
c.1320C>A (p.Tyr440Ter)
n.711C>A
c.1395C>A (p.Tyr465Ter)
n.762C>A
n.4065C>A
c.1233C>A (p.Tyr411Ter)
c.1260C>A (p.Tyr420Ter)
c.663C>A (p.Tyr221Ter)
c.1368C>A (p.Tyr456Ter)
c.1341C>A (p.Tyr447Ter)
21g.37505390C=CA2388503276DYRK1Ac.1347C= (p.Tyr449=)
c.1320C= (p.Tyr440=)
n.711C=
c.1395C= (p.Tyr465=)
n.762C=
n.4065C=
c.1233C= (p.Tyr411=)
c.1260C= (p.Tyr420=)
c.663C= (p.Tyr221=)
c.1368C= (p.Tyr456=)
c.1341C= (p.Tyr447=)
21g.37505390C>GCA409938289DYRK1Ac.1347C>G (p.Tyr449Ter)
c.1320C>G (p.Tyr440Ter)
n.711C>G
c.1395C>G (p.Tyr465Ter)
n.762C>G
n.4065C>G
c.1233C>G (p.Tyr411Ter)
c.1260C>G (p.Tyr420Ter)
c.663C>G (p.Tyr221Ter)
c.1368C>G (p.Tyr456Ter)
c.1341C>G (p.Tyr447Ter)
21g.37505390C>TCA512327919DYRK1Ac.1347C>T (p.Tyr449=)
c.1320C>T (p.Tyr440=)
n.711C>T
c.1395C>T (p.Tyr465=)
n.762C>T
n.4065C>T
c.1233C>T (p.Tyr411=)
c.1260C>T (p.Tyr420=)
c.663C>T (p.Tyr221=)
c.1368C>T (p.Tyr456=)
c.1341C>T (p.Tyr447=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37505391T>ACA409938291DYRK1Ac.1348T>A (p.Leu450Met)
c.1321T>A (p.Leu441Met)
n.712T>A
c.1396T>A (p.Leu466Met)
n.763T>A
n.4066T>A
c.1234T>A (p.Leu412Met)
c.1261T>A (p.Leu421Met)
c.664T>A (p.Leu222Met)
c.1369T>A (p.Leu457Met)
c.1342T>A (p.Leu448Met)
21g.37505391T>CCA512327920DYRK1Ac.1348T>C (p.Leu450=)
c.1321T>C (p.Leu441=)
n.712T>C
c.1396T>C (p.Leu466=)
n.763T>C
n.4066T>C
c.1234T>C (p.Leu412=)
c.1261T>C (p.Leu421=)
c.664T>C (p.Leu222=)
c.1369T>C (p.Leu457=)
c.1342T>C (p.Leu448=)
21g.37505391T>GCA409938294DYRK1Ac.1348T>G (p.Leu450Val)
c.1321T>G (p.Leu441Val)
n.712T>G
c.1396T>G (p.Leu466Val)
n.763T>G
n.4066T>G
c.1234T>G (p.Leu412Val)
c.1261T>G (p.Leu421Val)
c.664T>G (p.Leu222Val)
c.1369T>G (p.Leu457Val)
c.1342T>G (p.Leu448Val)
21g.37505392T>ACA409938300DYRK1Ac.1349T>A (p.Leu450Ter)
c.1322T>A (p.Leu441Ter)
n.713T>A
c.1397T>A (p.Leu466Ter)
n.764T>A
n.4067T>A
c.1235T>A (p.Leu412Ter)
c.1262T>A (p.Leu421Ter)
c.665T>A (p.Leu222Ter)
c.1370T>A (p.Leu457Ter)
c.1343T>A (p.Leu448Ter)
 dbSNP
21g.37505392T>CCA409938296DYRK1Ac.1349T>C (p.Leu450Ser)
c.1322T>C (p.Leu441Ser)
n.713T>C
c.1397T>C (p.Leu466Ser)
n.764T>C
n.4067T>C
c.1235T>C (p.Leu412Ser)
c.1262T>C (p.Leu421Ser)
c.665T>C (p.Leu222Ser)
c.1370T>C (p.Leu457Ser)
c.1343T>C (p.Leu448Ser)
21g.37505392T>GCA409938298DYRK1Ac.1349T>G (p.Leu450Trp)
c.1322T>G (p.Leu441Trp)
n.713T>G
c.1397T>G (p.Leu466Trp)
n.764T>G
n.4067T>G
c.1235T>G (p.Leu412Trp)
c.1262T>G (p.Leu421Trp)
c.665T>G (p.Leu222Trp)
c.1370T>G (p.Leu457Trp)
c.1343T>G (p.Leu448Trp)
21g.37505392T=CA2388503280DYRK1Ac.1349T= (p.Leu450=)
c.1322T= (p.Leu441=)
n.713T=
c.1397T= (p.Leu466=)
n.764T=
n.4067T=
c.1235T= (p.Leu412=)
c.1262T= (p.Leu421=)
c.665T= (p.Leu222=)
c.1370T= (p.Leu457=)
c.1343T= (p.Leu448=)
21g.37505393G>ACA512327923DYRK1Ac.1350G>A (p.Leu450=)
c.1323G>A (p.Leu441=)
n.714G>A
c.1398G>A (p.Leu466=)
n.765G>A
n.4068G>A
c.1236G>A (p.Leu412=)
c.1263G>A (p.Leu421=)
c.666G>A (p.Leu222=)
c.1371G>A (p.Leu457=)
c.1344G>A (p.Leu448=)
21g.37505393G>CCA409938301DYRK1Ac.1350G>C (p.Leu450Phe)
c.1323G>C (p.Leu441Phe)
n.714G>C
c.1398G>C (p.Leu466Phe)
n.765G>C
n.4068G>C
c.1236G>C (p.Leu412Phe)
c.1263G>C (p.Leu421Phe)
c.666G>C (p.Leu222Phe)
c.1371G>C (p.Leu457Phe)
c.1344G>C (p.Leu448Phe)
21g.37505393G>TCA409938303DYRK1Ac.1350G>T (p.Leu450Phe)
c.1323G>T (p.Leu441Phe)
n.714G>T
c.1398G>T (p.Leu466Phe)
n.765G>T
n.4068G>T
c.1236G>T (p.Leu412Phe)
c.1263G>T (p.Leu421Phe)
c.666G>T (p.Leu222Phe)
c.1371G>T (p.Leu457Phe)
c.1344G>T (p.Leu448Phe)
21g.37505393dupCA2695223217DYRK1Ac.1350dup (p.Lys451GlufsTer11)
c.1323dup (p.Lys442GlufsTer11)
n.714dup
c.1398dup (p.Lys467GlufsTer11)
n.765dup
n.4068dup
c.1236dup (p.Lys413GlufsTer11)
c.1263dup (p.Lys422GlufsTer11)
c.666dup (p.Lys223GlufsTer11)
c.1371dup (p.Lys458GlufsTer11)
c.1344dup (p.Lys449GlufsTer11)
21g.37505394A=CA2388503282DYRK1Ac.1351A= (p.Lys451=)
c.1324A= (p.Lys442=)
n.715A=
c.1399A= (p.Lys467=)
n.766A=
n.4069A=
c.1237A= (p.Lys413=)
c.1264A= (p.Lys422=)
c.667A= (p.Lys223=)
c.1372A= (p.Lys458=)
c.1345A= (p.Lys449=)
21g.37505394A>CCA409938306DYRK1Ac.1351A>C (p.Lys451Gln)
c.1324A>C (p.Lys442Gln)
n.715A>C
c.1399A>C (p.Lys467Gln)
n.766A>C
n.4069A>C
c.1237A>C (p.Lys413Gln)
c.1264A>C (p.Lys422Gln)
c.667A>C (p.Lys223Gln)
c.1372A>C (p.Lys458Gln)
c.1345A>C (p.Lys449Gln)
21g.37505394A>GCA409938307DYRK1Ac.1351A>G (p.Lys451Glu)
c.1324A>G (p.Lys442Glu)
n.715A>G
c.1399A>G (p.Lys467Glu)
n.766A>G
n.4069A>G
c.1237A>G (p.Lys413Glu)
c.1264A>G (p.Lys422Glu)
c.667A>G (p.Lys223Glu)
c.1372A>G (p.Lys458Glu)
c.1345A>G (p.Lys449Glu)
21g.37505394A>TCA409938309DYRK1Ac.1351A>T (p.Lys451Ter)
c.1324A>T (p.Lys442Ter)
n.715A>T
c.1399A>T (p.Lys467Ter)
n.766A>T
n.4069A>T
c.1237A>T (p.Lys413Ter)
c.1264A>T (p.Lys422Ter)
c.667A>T (p.Lys223Ter)
c.1372A>T (p.Lys458Ter)
c.1345A>T (p.Lys449Ter)
 dbSNP
21g.37505395A>CCA409938313DYRK1Ac.1352A>C (p.Lys451Thr)
c.1325A>C (p.Lys442Thr)
n.716A>C
c.1400A>C (p.Lys467Thr)
n.767A>C
n.4070A>C
c.1238A>C (p.Lys413Thr)
c.1265A>C (p.Lys422Thr)
c.668A>C (p.Lys223Thr)
c.1373A>C (p.Lys458Thr)
c.1346A>C (p.Lys449Thr)
21g.37505395A>GCA409938311DYRK1Ac.1352A>G (p.Lys451Arg)
c.1325A>G (p.Lys442Arg)
n.716A>G
c.1400A>G (p.Lys467Arg)
n.767A>G
n.4070A>G
c.1238A>G (p.Lys413Arg)
c.1265A>G (p.Lys422Arg)
c.668A>G (p.Lys223Arg)
c.1373A>G (p.Lys458Arg)
c.1346A>G (p.Lys449Arg)
 ClinVar
21g.37505395A>TCA409938312DYRK1Ac.1352A>T (p.Lys451Met)
c.1325A>T (p.Lys442Met)
n.716A>T
c.1400A>T (p.Lys467Met)
n.767A>T
n.4070A>T
c.1238A>T (p.Lys413Met)
c.1265A>T (p.Lys422Met)
c.668A>T (p.Lys223Met)
c.1373A>T (p.Lys458Met)
c.1346A>T (p.Lys449Met)
21g.37505396G>ACA512327927DYRK1Ac.1353G>A (p.Lys451=)
c.1326G>A (p.Lys442=)
n.717G>A
c.1401G>A (p.Lys467=)
n.768G>A
n.4071G>A
c.1239G>A (p.Lys413=)
c.1266G>A (p.Lys422=)
c.669G>A (p.Lys223=)
c.1374G>A (p.Lys458=)
c.1347G>A (p.Lys449=)
21g.37505396G>CCA409938316DYRK1Ac.1353G>C (p.Lys451Asn)
c.1326G>C (p.Lys442Asn)
n.717G>C
c.1401G>C (p.Lys467Asn)
n.768G>C
n.4071G>C
c.1239G>C (p.Lys413Asn)
c.1266G>C (p.Lys422Asn)
c.669G>C (p.Lys223Asn)
c.1374G>C (p.Lys458Asn)
c.1347G>C (p.Lys449Asn)
21g.37505396G>TCA409938317DYRK1Ac.1353G>T (p.Lys451Asn)
c.1326G>T (p.Lys442Asn)
n.717G>T
c.1401G>T (p.Lys467Asn)
n.768G>T
n.4071G>T
c.1239G>T (p.Lys413Asn)
c.1266G>T (p.Lys422Asn)
c.669G>T (p.Lys223Asn)
c.1374G>T (p.Lys458Asn)
c.1347G>T (p.Lys449Asn)
21g.37505397T>ACA409938319DYRK1Ac.1354T>A (p.Phe452Ile)
c.1327T>A (p.Phe443Ile)
n.718T>A
c.1402T>A (p.Phe468Ile)
n.769T>A
n.4072T>A
c.1240T>A (p.Phe414Ile)
c.1267T>A (p.Phe423Ile)
c.670T>A (p.Phe224Ile)
c.1375T>A (p.Phe459Ile)
c.1348T>A (p.Phe450Ile)
21g.37505397T>CCA409938320DYRK1Ac.1354T>C (p.Phe452Leu)
c.1327T>C (p.Phe443Leu)
n.718T>C
c.1402T>C (p.Phe468Leu)
n.769T>C
n.4072T>C
c.1240T>C (p.Phe414Leu)
c.1267T>C (p.Phe423Leu)
c.670T>C (p.Phe224Leu)
c.1375T>C (p.Phe459Leu)
c.1348T>C (p.Phe450Leu)
21g.37505397T>GCA409938323DYRK1Ac.1354T>G (p.Phe452Val)
c.1327T>G (p.Phe443Val)
n.718T>G
c.1402T>G (p.Phe468Val)
n.769T>G
n.4072T>G
c.1240T>G (p.Phe414Val)
c.1267T>G (p.Phe423Val)
c.670T>G (p.Phe224Val)
c.1375T>G (p.Phe459Val)
c.1348T>G (p.Phe450Val)
21g.37505398T>ACA409938325DYRK1Ac.1355T>A (p.Phe452Tyr)
c.1328T>A (p.Phe443Tyr)
n.719T>A
c.1403T>A (p.Phe468Tyr)
n.770T>A
n.4073T>A
c.1241T>A (p.Phe414Tyr)
c.1268T>A (p.Phe423Tyr)
c.671T>A (p.Phe224Tyr)
c.1376T>A (p.Phe459Tyr)
c.1349T>A (p.Phe450Tyr)
21g.37505398T>CCA409938326DYRK1Ac.1355T>C (p.Phe452Ser)
c.1328T>C (p.Phe443Ser)
n.719T>C
c.1403T>C (p.Phe468Ser)
n.770T>C
n.4073T>C
c.1241T>C (p.Phe414Ser)
c.1268T>C (p.Phe423Ser)
c.671T>C (p.Phe224Ser)
c.1376T>C (p.Phe459Ser)
c.1349T>C (p.Phe450Ser)
21g.37505398T>GCA409938327DYRK1Ac.1355T>G (p.Phe452Cys)
c.1328T>G (p.Phe443Cys)
n.719T>G
c.1403T>G (p.Phe468Cys)
n.770T>G
n.4073T>G
c.1241T>G (p.Phe414Cys)
c.1268T>G (p.Phe423Cys)
c.671T>G (p.Phe224Cys)
c.1376T>G (p.Phe459Cys)
c.1349T>G (p.Phe450Cys)
21g.37505399C>ACA409938328DYRK1Ac.1356C>A (p.Phe452Leu)
c.1329C>A (p.Phe443Leu)
n.720C>A
c.1404C>A (p.Phe468Leu)
n.771C>A
n.4074C>A
c.1242C>A (p.Phe414Leu)
c.1269C>A (p.Phe423Leu)
c.672C>A (p.Phe224Leu)
c.1377C>A (p.Phe459Leu)
c.1350C>A (p.Phe450Leu)
 dbSNP
21g.37505399C=CA2388503284DYRK1Ac.1356C= (p.Phe452=)
c.1329C= (p.Phe443=)
n.720C=
c.1404C= (p.Phe468=)
n.771C=
n.4074C=
c.1242C= (p.Phe414=)
c.1269C= (p.Phe423=)
c.672C= (p.Phe224=)
c.1377C= (p.Phe459=)
c.1350C= (p.Phe450=)
21g.37505399C>GCA409938329DYRK1Ac.1356C>G (p.Phe452Leu)
c.1329C>G (p.Phe443Leu)
n.720C>G
c.1404C>G (p.Phe468Leu)
n.771C>G
n.4074C>G
c.1242C>G (p.Phe414Leu)
c.1269C>G (p.Phe423Leu)
c.672C>G (p.Phe224Leu)
c.1377C>G (p.Phe459Leu)
c.1350C>G (p.Phe450Leu)
 gnomAD v4
21g.37505399C>TCA512327929DYRK1Ac.1356C>T (p.Phe452=)
c.1329C>T (p.Phe443=)
n.720C>T
c.1404C>T (p.Phe468=)
n.771C>T
n.4074C>T
c.1242C>T (p.Phe414=)
c.1269C>T (p.Phe423=)
c.672C>T (p.Phe224=)
c.1377C>T (p.Phe459=)
c.1350C>T (p.Phe450=)
21g.37505400A=CA2388503286DYRK1Ac.1357A= (p.Lys453=)
c.1330A= (p.Lys444=)
n.721A=
c.1405A= (p.Lys469=)
n.772A=
n.4075A=
c.1243A= (p.Lys415=)
c.1270A= (p.Lys424=)
c.673A= (p.Lys225=)
c.1378A= (p.Lys460=)
c.1351A= (p.Lys451=)
21g.37505400A>CCA409938330DYRK1Ac.1357A>C (p.Lys453Gln)
c.1330A>C (p.Lys444Gln)
n.721A>C
c.1405A>C (p.Lys469Gln)
n.772A>C
n.4075A>C
c.1243A>C (p.Lys415Gln)
c.1270A>C (p.Lys424Gln)
c.673A>C (p.Lys225Gln)
c.1378A>C (p.Lys460Gln)
c.1351A>C (p.Lys451Gln)
21g.37505400A>GCA409938331DYRK1Ac.1357A>G (p.Lys453Glu)
c.1330A>G (p.Lys444Glu)
n.721A>G
c.1405A>G (p.Lys469Glu)
n.772A>G
n.4075A>G
c.1243A>G (p.Lys415Glu)
c.1270A>G (p.Lys424Glu)
c.673A>G (p.Lys225Glu)
c.1378A>G (p.Lys460Glu)
c.1351A>G (p.Lys451Glu)
 ClinVar dbSNP gnomAD v4
21g.37505400A>TCA409938332DYRK1Ac.1357A>T (p.Lys453Ter)
c.1330A>T (p.Lys444Ter)
n.721A>T
c.1405A>T (p.Lys469Ter)
n.772A>T
n.4075A>T
c.1243A>T (p.Lys415Ter)
c.1270A>T (p.Lys424Ter)
c.673A>T (p.Lys225Ter)
c.1378A>T (p.Lys460Ter)
c.1351A>T (p.Lys451Ter)
 dbSNP
21g.37505401A=CA2388503290DYRK1Ac.1358A= (p.Lys453=)
c.1331A= (p.Lys444=)
n.722A=
c.1406A= (p.Lys469=)
n.773A=
n.4076A=
c.1244A= (p.Lys415=)
c.1271A= (p.Lys424=)
c.674A= (p.Lys225=)
c.1379A= (p.Lys460=)
c.1352A= (p.Lys451=)
21g.37505401A>CCA409938333DYRK1Ac.1358A>C (p.Lys453Thr)
c.1331A>C (p.Lys444Thr)
n.722A>C
c.1406A>C (p.Lys469Thr)
n.773A>C
n.4076A>C
c.1244A>C (p.Lys415Thr)
c.1271A>C (p.Lys424Thr)
c.674A>C (p.Lys225Thr)
c.1379A>C (p.Lys460Thr)
c.1352A>C (p.Lys451Thr)
21g.37505401A>GCA409938335DYRK1Ac.1358A>G (p.Lys453Arg)
c.1331A>G (p.Lys444Arg)
n.722A>G
c.1406A>G (p.Lys469Arg)
n.773A>G
n.4076A>G
c.1244A>G (p.Lys415Arg)
c.1271A>G (p.Lys424Arg)
c.674A>G (p.Lys225Arg)
c.1379A>G (p.Lys460Arg)
c.1352A>G (p.Lys451Arg)
 ClinVar dbSNP
21g.37505401A>TCA409938334DYRK1Ac.1358A>T (p.Lys453Ile)
c.1331A>T (p.Lys444Ile)
n.722A>T
c.1406A>T (p.Lys469Ile)
n.773A>T
n.4076A>T
c.1244A>T (p.Lys415Ile)
c.1271A>T (p.Lys424Ile)
c.674A>T (p.Lys225Ile)
c.1379A>T (p.Lys460Ile)
c.1352A>T (p.Lys451Ile)
21g.37505402A>CCA409938336DYRK1Ac.1359A>C (p.Lys453Asn)
c.1332A>C (p.Lys444Asn)
n.723A>C
c.1407A>C (p.Lys469Asn)
n.774A>C
n.4077A>C
c.1245A>C (p.Lys415Asn)
c.1272A>C (p.Lys424Asn)
c.675A>C (p.Lys225Asn)
c.1380A>C (p.Lys460Asn)
c.1353A>C (p.Lys451Asn)
21g.37505402A>GCA512327931DYRK1Ac.1359A>G (p.Lys453=)
c.1332A>G (p.Lys444=)
n.723A>G
c.1407A>G (p.Lys469=)
n.774A>G
n.4077A>G
c.1245A>G (p.Lys415=)
c.1272A>G (p.Lys424=)
c.675A>G (p.Lys225=)
c.1380A>G (p.Lys460=)
c.1353A>G (p.Lys451=)
21g.37505402A>TCA409938337DYRK1Ac.1359A>T (p.Lys453Asn)
c.1332A>T (p.Lys444Asn)
n.723A>T
c.1407A>T (p.Lys469Asn)
n.774A>T
n.4077A>T
c.1245A>T (p.Lys415Asn)
c.1272A>T (p.Lys424Asn)
c.675A>T (p.Lys225Asn)
c.1380A>T (p.Lys460Asn)
c.1353A>T (p.Lys451Asn)
21g.37505403G>ACA409938339DYRK1Ac.1360G>A (p.Asp454Asn)
c.1333G>A (p.Asp445Asn)
n.724G>A
c.1408G>A (p.Asp470Asn)
n.775G>A
n.4078G>A
c.1246G>A (p.Asp416Asn)
c.1273G>A (p.Asp425Asn)
c.676G>A (p.Asp226Asn)
c.1381G>A (p.Asp461Asn)
c.1354G>A (p.Asp452Asn)
21g.37505403G>CCA409938341DYRK1Ac.1360G>C (p.Asp454His)
c.1333G>C (p.Asp445His)
n.724G>C
c.1408G>C (p.Asp470His)
n.775G>C
n.4078G>C
c.1246G>C (p.Asp416His)
c.1273G>C (p.Asp425His)
c.676G>C (p.Asp226His)
c.1381G>C (p.Asp461His)
c.1354G>C (p.Asp452His)
21g.37505403G>TCA409938343DYRK1Ac.1360G>T (p.Asp454Tyr)
c.1333G>T (p.Asp445Tyr)
n.724G>T
c.1408G>T (p.Asp470Tyr)
n.775G>T
n.4078G>T
c.1246G>T (p.Asp416Tyr)
c.1273G>T (p.Asp425Tyr)
c.676G>T (p.Asp226Tyr)
c.1381G>T (p.Asp461Tyr)
c.1354G>T (p.Asp452Tyr)
21g.37505404A>CCA409938345DYRK1Ac.1361A>C (p.Asp454Ala)
c.1334A>C (p.Asp445Ala)
n.725A>C
c.1409A>C (p.Asp470Ala)
n.776A>C
n.4079A>C
c.1247A>C (p.Asp416Ala)
c.1274A>C (p.Asp425Ala)
c.677A>C (p.Asp226Ala)
c.1382A>C (p.Asp461Ala)
c.1355A>C (p.Asp452Ala)
21g.37505404A>GCA409938347DYRK1Ac.1361A>G (p.Asp454Gly)
c.1334A>G (p.Asp445Gly)
n.725A>G
c.1409A>G (p.Asp470Gly)
n.776A>G
n.4079A>G
c.1247A>G (p.Asp416Gly)
c.1274A>G (p.Asp425Gly)
c.677A>G (p.Asp226Gly)
c.1382A>G (p.Asp461Gly)
c.1355A>G (p.Asp452Gly)
21g.37505404A>TCA409938349DYRK1Ac.1361A>T (p.Asp454Val)
c.1334A>T (p.Asp445Val)
n.725A>T
c.1409A>T (p.Asp470Val)
n.776A>T
n.4079A>T
c.1247A>T (p.Asp416Val)
c.1274A>T (p.Asp425Val)
c.677A>T (p.Asp226Val)
c.1382A>T (p.Asp461Val)
c.1355A>T (p.Asp452Val)
21g.37505405C>ACA409938351DYRK1Ac.1362C>A (p.Asp454Glu)
c.1335C>A (p.Asp445Glu)
n.726C>A
c.1410C>A (p.Asp470Glu)
n.777C>A
n.4080C>A
c.1248C>A (p.Asp416Glu)
c.1275C>A (p.Asp425Glu)
c.678C>A (p.Asp226Glu)
c.1383C>A (p.Asp461Glu)
c.1356C>A (p.Asp452Glu)
21g.37505405C=CA2388503292DYRK1Ac.1362C= (p.Asp454=)
c.1335C= (p.Asp445=)
n.726C=
c.1410C= (p.Asp470=)
n.777C=
n.4080C=
c.1248C= (p.Asp416=)
c.1275C= (p.Asp425=)
c.678C= (p.Asp226=)
c.1383C= (p.Asp461=)
c.1356C= (p.Asp452=)
21g.37505405C>GCA409938353DYRK1Ac.1362C>G (p.Asp454Glu)
c.1335C>G (p.Asp445Glu)
n.726C>G
c.1410C>G (p.Asp470Glu)
n.777C>G
n.4080C>G
c.1248C>G (p.Asp416Glu)
c.1275C>G (p.Asp425Glu)
c.678C>G (p.Asp226Glu)
c.1383C>G (p.Asp461Glu)
c.1356C>G (p.Asp452Glu)
 gnomAD v4
21g.37505405C>TCA512327935DYRK1Ac.1362C>T (p.Asp454=)
c.1335C>T (p.Asp445=)
n.726C>T
c.1410C>T (p.Asp470=)
n.777C>T
n.4080C>T
c.1248C>T (p.Asp416=)
c.1275C>T (p.Asp425=)
c.678C>T (p.Asp226=)
c.1383C>T (p.Asp461=)
c.1356C>T (p.Asp452=)
 dbSNP gnomAD v2 gnomAD v4
21g.37505406delCA2580098698DYRK1Ac.1363del (p.Leu455SerfsTer3)
c.1336del (p.Leu446SerfsTer3)
n.727del
c.1411del (p.Leu471SerfsTer3)
n.778del
n.4081del
c.1249del (p.Leu417SerfsTer3)
c.1276del (p.Leu426SerfsTer3)
c.679del (p.Leu227SerfsTer3)
c.1384del (p.Leu462SerfsTer3)
c.1357del (p.Leu453SerfsTer3)
 ClinVar
21g.37505406C>ACA409938355DYRK1Ac.1363C>A (p.Leu455Ile)
c.1336C>A (p.Leu446Ile)
n.727C>A
c.1411C>A (p.Leu471Ile)
n.778C>A
n.4081C>A
c.1249C>A (p.Leu417Ile)
c.1276C>A (p.Leu426Ile)
c.679C>A (p.Leu227Ile)
c.1384C>A (p.Leu462Ile)
c.1357C>A (p.Leu453Ile)
21g.37505406C>GCA409938357DYRK1Ac.1363C>G (p.Leu455Val)
c.1336C>G (p.Leu446Val)
n.727C>G
c.1411C>G (p.Leu471Val)
n.778C>G
n.4081C>G
c.1249C>G (p.Leu417Val)
c.1276C>G (p.Leu426Val)
c.679C>G (p.Leu227Val)
c.1384C>G (p.Leu462Val)
c.1357C>G (p.Leu453Val)
21g.37505406C>TCA409938359DYRK1Ac.1363C>T (p.Leu455Phe)
c.1336C>T (p.Leu446Phe)
n.727C>T
c.1411C>T (p.Leu471Phe)
n.778C>T
n.4081C>T
c.1249C>T (p.Leu417Phe)
c.1276C>T (p.Leu426Phe)
c.679C>T (p.Leu227Phe)
c.1384C>T (p.Leu462Phe)
c.1357C>T (p.Leu453Phe)
 gnomAD v4
21g.37505407T>ACA409938363DYRK1Ac.1364T>A (p.Leu455His)
c.1337T>A (p.Leu446His)
n.728T>A
c.1412T>A (p.Leu471His)
n.779T>A
n.4082T>A
c.1250T>A (p.Leu417His)
c.1277T>A (p.Leu426His)
c.680T>A (p.Leu227His)
c.1385T>A (p.Leu462His)
c.1358T>A (p.Leu453His)
21g.37505407T>CCA409938361DYRK1Ac.1364T>C (p.Leu455Pro)
c.1337T>C (p.Leu446Pro)
n.728T>C
c.1412T>C (p.Leu471Pro)
n.779T>C
n.4082T>C
c.1250T>C (p.Leu417Pro)
c.1277T>C (p.Leu426Pro)
c.680T>C (p.Leu227Pro)
c.1385T>C (p.Leu462Pro)
c.1358T>C (p.Leu453Pro)
21g.37505407T>GCA409938362DYRK1Ac.1364T>G (p.Leu455Arg)
c.1337T>G (p.Leu446Arg)
n.728T>G
c.1412T>G (p.Leu471Arg)
n.779T>G
n.4082T>G
c.1250T>G (p.Leu417Arg)
c.1277T>G (p.Leu426Arg)
c.680T>G (p.Leu227Arg)
c.1385T>G (p.Leu462Arg)
c.1358T>G (p.Leu453Arg)
21g.37505408C>ACA512327937DYRK1Ac.1365C>A (p.Leu455=)
c.1338C>A (p.Leu446=)
n.729C>A
c.1413C>A (p.Leu471=)
n.780C>A
n.4083C>A
c.1251C>A (p.Leu417=)
c.1278C>A (p.Leu426=)
c.681C>A (p.Leu227=)
c.1386C>A (p.Leu462=)
c.1359C>A (p.Leu453=)
21g.37505408C=CA2388503293DYRK1Ac.1365C= (p.Leu455=)
c.1338C= (p.Leu446=)
n.729C=
c.1413C= (p.Leu471=)
n.780C=
n.4083C=
c.1251C= (p.Leu417=)
c.1278C= (p.Leu426=)
c.681C= (p.Leu227=)
c.1386C= (p.Leu462=)
c.1359C= (p.Leu453=)
21g.37505408C>GCA512327938DYRK1Ac.1365C>G (p.Leu455=)
c.1338C>G (p.Leu446=)
n.729C>G
c.1413C>G (p.Leu471=)
n.780C>G
n.4083C>G
c.1251C>G (p.Leu417=)
c.1278C>G (p.Leu426=)
c.681C>G (p.Leu227=)
c.1386C>G (p.Leu462=)
c.1359C>G (p.Leu453=)
21g.37505408C>TCA10023967DYRK1Ac.1365C>T (p.Leu455=)
c.1338C>T (p.Leu446=)
n.729C>T
c.1413C>T (p.Leu471=)
n.780C>T
n.4083C>T
c.1251C>T (p.Leu417=)
c.1278C>T (p.Leu426=)
c.681C>T (p.Leu227=)
c.1386C>T (p.Leu462=)
c.1359C>T (p.Leu453=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.37505409A=CA2388503295DYRK1Ac.1366A= (p.Ile456=)
c.1339A= (p.Ile447=)
n.730A=
c.1414A= (p.Ile472=)
n.781A=
n.4084A=
c.1252A= (p.Ile418=)
c.1279A= (p.Ile427=)
c.682A= (p.Ile228=)
c.1387A= (p.Ile463=)
c.1360A= (p.Ile454=)
21g.37505409A>CCA409938364DYRK1Ac.1366A>C (p.Ile456Leu)
c.1339A>C (p.Ile447Leu)
n.730A>C
c.1414A>C (p.Ile472Leu)
n.781A>C
n.4084A>C
c.1252A>C (p.Ile418Leu)
c.1279A>C (p.Ile427Leu)
c.682A>C (p.Ile228Leu)
c.1387A>C (p.Ile463Leu)
c.1360A>C (p.Ile454Leu)
21g.37505409A>GCA409938365DYRK1Ac.1366A>G (p.Ile456Val)
c.1339A>G (p.Ile447Val)
n.730A>G
c.1414A>G (p.Ile472Val)
n.781A>G
n.4084A>G
c.1252A>G (p.Ile418Val)
c.1279A>G (p.Ile427Val)
c.682A>G (p.Ile228Val)
c.1387A>G (p.Ile463Val)
c.1360A>G (p.Ile454Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.37505409A>TCA409938366DYRK1Ac.1366A>T (p.Ile456Phe)
c.1339A>T (p.Ile447Phe)
n.730A>T
c.1414A>T (p.Ile472Phe)
n.781A>T
n.4084A>T
c.1252A>T (p.Ile418Phe)
c.1279A>T (p.Ile427Phe)
c.682A>T (p.Ile228Phe)
c.1387A>T (p.Ile463Phe)
c.1360A>T (p.Ile454Phe)
21g.37505410T>ACA409938367DYRK1Ac.1367T>A (p.Ile456Asn)
c.1340T>A (p.Ile447Asn)
n.731T>A
c.1415T>A (p.Ile472Asn)
n.782T>A
n.4085T>A
c.1253T>A (p.Ile418Asn)
c.1280T>A (p.Ile427Asn)
c.683T>A (p.Ile228Asn)
c.1388T>A (p.Ile463Asn)
c.1361T>A (p.Ile454Asn)
21g.37505410T>CCA409938368DYRK1Ac.1367T>C (p.Ile456Thr)
c.1340T>C (p.Ile447Thr)
n.731T>C
c.1415T>C (p.Ile472Thr)
n.782T>C
n.4085T>C
c.1253T>C (p.Ile418Thr)
c.1280T>C (p.Ile427Thr)
c.683T>C (p.Ile228Thr)
c.1388T>C (p.Ile463Thr)
c.1361T>C (p.Ile454Thr)
 gnomAD v4
21g.37505410T>GCA409938369DYRK1Ac.1367T>G (p.Ile456Ser)
c.1340T>G (p.Ile447Ser)
n.731T>G
c.1415T>G (p.Ile472Ser)
n.782T>G
n.4085T>G
c.1253T>G (p.Ile418Ser)
c.1280T>G (p.Ile427Ser)
c.683T>G (p.Ile228Ser)
c.1388T>G (p.Ile463Ser)
c.1361T>G (p.Ile454Ser)
21g.37505411T>ACA512327941DYRK1Ac.1368T>A (p.Ile456=)
c.1341T>A (p.Ile447=)
n.732T>A
c.1416T>A (p.Ile472=)
n.783T>A
n.4086T>A
c.1254T>A (p.Ile418=)
c.1281T>A (p.Ile427=)
c.684T>A (p.Ile228=)
c.1389T>A (p.Ile463=)
c.1362T>A (p.Ile454=)
21g.37505411T>CCA10023968DYRK1Ac.1368T>C (p.Ile456=)
c.1341T>C (p.Ile447=)
n.732T>C
c.1416T>C (p.Ile472=)
n.783T>C
n.4086T>C
c.1254T>C (p.Ile418=)
c.1281T>C (p.Ile427=)
c.684T>C (p.Ile228=)
c.1389T>C (p.Ile463=)
c.1362T>C (p.Ile454=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37505411T>GCA409938370DYRK1Ac.1368T>G (p.Ile456Met)
c.1341T>G (p.Ile447Met)
n.732T>G
c.1416T>G (p.Ile472Met)
n.783T>G
n.4086T>G
c.1254T>G (p.Ile418Met)
c.1281T>G (p.Ile427Met)
c.684T>G (p.Ile228Met)
c.1389T>G (p.Ile463Met)
c.1362T>G (p.Ile454Met)
21g.37505411T=CA2388503297DYRK1Ac.1368T= (p.Ile456=)
c.1341T= (p.Ile447=)
n.732T=
c.1416T= (p.Ile472=)
n.783T=
n.4086T=
c.1254T= (p.Ile418=)
c.1281T= (p.Ile427=)
c.684T= (p.Ile228=)
c.1389T= (p.Ile463=)
c.1362T= (p.Ile454=)
21g.37505412T>ACA409938371DYRK1Ac.1369T>A (p.Leu457Ile)
c.1342T>A (p.Leu448Ile)
n.733T>A
c.1417T>A (p.Leu473Ile)
n.784T>A
n.4087T>A
c.1255T>A (p.Leu419Ile)
c.1282T>A (p.Leu428Ile)
c.685T>A (p.Leu229Ile)
c.1390T>A (p.Leu464Ile)
c.1363T>A (p.Leu455Ile)
21g.37505412T>CCA512327942DYRK1Ac.1369T>C (p.Leu457=)
c.1342T>C (p.Leu448=)
n.733T>C
c.1417T>C (p.Leu473=)
n.784T>C
n.4087T>C
c.1255T>C (p.Leu419=)
c.1282T>C (p.Leu428=)
c.685T>C (p.Leu229=)
c.1390T>C (p.Leu464=)
c.1363T>C (p.Leu455=)
21g.37505412T>GCA409938372DYRK1Ac.1369T>G (p.Leu457Val)
c.1342T>G (p.Leu448Val)
n.733T>G
c.1417T>G (p.Leu473Val)
n.784T>G
n.4087T>G
c.1255T>G (p.Leu419Val)
c.1282T>G (p.Leu428Val)
c.685T>G (p.Leu229Val)
c.1390T>G (p.Leu464Val)
c.1363T>G (p.Leu455Val)
21g.37505412T=CA2388503299DYRK1Ac.1369T= (p.Leu457=)
c.1342T= (p.Leu448=)
n.733T=
c.1417T= (p.Leu473=)
n.784T=
n.4087T=
c.1255T= (p.Leu419=)
c.1282T= (p.Leu428=)
c.685T= (p.Leu229=)
c.1390T= (p.Leu464=)
c.1363T= (p.Leu455=)
21g.37505413T>ACA409938373DYRK1Ac.1370T>A (p.Leu457Ter)
c.1343T>A (p.Leu448Ter)
n.734T>A
c.1418T>A (p.Leu473Ter)
n.785T>A
n.4088T>A
c.1256T>A (p.Leu419Ter)
c.1283T>A (p.Leu428Ter)
c.686T>A (p.Leu229Ter)
c.1391T>A (p.Leu464Ter)
c.1364T>A (p.Leu455Ter)
21g.37505413T>CCA409938375DYRK1Ac.1370T>C (p.Leu457Ser)
c.1343T>C (p.Leu448Ser)
n.734T>C
c.1418T>C (p.Leu473Ser)
n.785T>C
n.4088T>C
c.1256T>C (p.Leu419Ser)
c.1283T>C (p.Leu428Ser)
c.686T>C (p.Leu229Ser)
c.1391T>C (p.Leu464Ser)
c.1364T>C (p.Leu455Ser)
21g.37505413T>GCA409938374DYRK1Ac.1370T>G (p.Leu457Ter)
c.1343T>G (p.Leu448Ter)
n.734T>G
c.1418T>G (p.Leu473Ter)
n.785T>G
n.4088T>G
c.1256T>G (p.Leu419Ter)
c.1283T>G (p.Leu428Ter)
c.686T>G (p.Leu229Ter)
c.1391T>G (p.Leu464Ter)
c.1364T>G (p.Leu455Ter)
21g.37505413_37505416dupCA915952630DYRK1Ac.1370_1373dup (p.Arg458SerfsTer5)
c.1343_1346dup (p.Arg449SerfsTer5)
n.734_737dup
c.1418_1421dup (p.Arg474SerfsTer5)
n.785_788dup
n.4088_4091dup
c.1256_1259dup (p.Arg420SerfsTer5)
c.1283_1286dup (p.Arg429SerfsTer5)
c.686_689dup (p.Arg230SerfsTer5)
c.1391_1394dup (p.Arg465SerfsTer5)
c.1364_1367dup (p.Arg456SerfsTer5)
 ClinVar dbSNP
21g.37505414A>CCA409938376DYRK1Ac.1371A>C (p.Leu457Phe)
c.1344A>C (p.Leu448Phe)
n.735A>C
c.1419A>C (p.Leu473Phe)
n.786A>C
n.4089A>C
c.1257A>C (p.Leu419Phe)
c.1284A>C (p.Leu428Phe)
c.687A>C (p.Leu229Phe)
c.1392A>C (p.Leu464Phe)
c.1365A>C (p.Leu455Phe)
21g.37505414A>GCA512327944DYRK1Ac.1371A>G (p.Leu457=)
c.1344A>G (p.Leu448=)
n.735A>G
c.1419A>G (p.Leu473=)
n.786A>G
n.4089A>G
c.1257A>G (p.Leu419=)
c.1284A>G (p.Leu428=)
c.687A>G (p.Leu229=)
c.1392A>G (p.Leu464=)
c.1365A>G (p.Leu455=)
21g.37505414A>TCA409938377DYRK1Ac.1371A>T (p.Leu457Phe)
c.1344A>T (p.Leu448Phe)
n.735A>T
c.1419A>T (p.Leu473Phe)
n.786A>T
n.4089A>T
c.1257A>T (p.Leu419Phe)
c.1284A>T (p.Leu428Phe)
c.687A>T (p.Leu229Phe)
c.1392A>T (p.Leu464Phe)
c.1365A>T (p.Leu455Phe)
21g.37505415A>CCA512327945DYRK1Ac.1372A>C (p.Arg458=)
c.1345A>C (p.Arg449=)
n.736A>C
c.1420A>C (p.Arg474=)
n.787A>C
n.4090A>C
c.1258A>C (p.Arg420=)
c.1285A>C (p.Arg429=)
c.688A>C (p.Arg230=)
c.1393A>C (p.Arg465=)
c.1366A>C (p.Arg456=)
21g.37505415A>GCA409938378DYRK1Ac.1372A>G (p.Arg458Gly)
c.1345A>G (p.Arg449Gly)
n.736A>G
c.1420A>G (p.Arg474Gly)
n.787A>G
n.4090A>G
c.1258A>G (p.Arg420Gly)
c.1285A>G (p.Arg429Gly)
c.688A>G (p.Arg230Gly)
c.1393A>G (p.Arg465Gly)
c.1366A>G (p.Arg456Gly)
21g.37505415A>TCA409938379DYRK1Ac.1372A>T (p.Arg458Trp)
c.1345A>T (p.Arg449Trp)
n.736A>T
c.1420A>T (p.Arg474Trp)
n.787A>T
n.4090A>T
c.1258A>T (p.Arg420Trp)
c.1285A>T (p.Arg429Trp)
c.688A>T (p.Arg230Trp)
c.1393A>T (p.Arg465Trp)
c.1366A>T (p.Arg456Trp)
21g.37505416G>ACA409938380DYRK1Ac.1373G>A (p.Arg458Lys)
c.1346G>A (p.Arg449Lys)
n.737G>A
c.1421G>A (p.Arg474Lys)
n.788G>A
n.4091G>A
c.1259G>A (p.Arg420Lys)
c.1286G>A (p.Arg429Lys)
c.689G>A (p.Arg230Lys)
c.1394G>A (p.Arg465Lys)
c.1367G>A (p.Arg456Lys)
 dbSNP
21g.37505416G>CCA409938381DYRK1Ac.1373G>C (p.Arg458Thr)
c.1346G>C (p.Arg449Thr)
n.737G>C
c.1421G>C (p.Arg474Thr)
n.788G>C
n.4091G>C
c.1259G>C (p.Arg420Thr)
c.1286G>C (p.Arg429Thr)
c.689G>C (p.Arg230Thr)
c.1394G>C (p.Arg465Thr)
c.1367G>C (p.Arg456Thr)
21g.37505416G=CA2388503302DYRK1Ac.1373G= (p.Arg458=)
c.1346G= (p.Arg449=)
n.737G=
c.1421G= (p.Arg474=)
n.788G=
n.4091G=
c.1259G= (p.Arg420=)
c.1286G= (p.Arg429=)
c.689G= (p.Arg230=)
c.1394G= (p.Arg465=)
c.1367G= (p.Arg456=)
21g.37505416G>TCA409938382DYRK1Ac.1373G>T (p.Arg458Met)
c.1346G>T (p.Arg449Met)
n.737G>T
c.1421G>T (p.Arg474Met)
n.788G>T
n.4091G>T
c.1259G>T (p.Arg420Met)
c.1286G>T (p.Arg429Met)
c.689G>T (p.Arg230Met)
c.1394G>T (p.Arg465Met)
c.1367G>T (p.Arg456Met)
21g.37505417G>ACA512327948DYRK1Ac.1374G>A (p.Arg458=)
c.1347G>A (p.Arg449=)
n.738G>A
c.1422G>A (p.Arg474=)
n.789G>A
n.4092G>A
c.1260G>A (p.Arg420=)
c.1287G>A (p.Arg429=)
c.690G>A (p.Arg230=)
c.1395G>A (p.Arg465=)
c.1368G>A (p.Arg456=)
21g.37505417G>CCA409938383DYRK1Ac.1374G>C (p.Arg458Ser)
c.1347G>C (p.Arg449Ser)
n.738G>C
c.1422G>C (p.Arg474Ser)
n.789G>C
n.4092G>C
c.1260G>C (p.Arg420Ser)
c.1287G>C (p.Arg429Ser)
c.690G>C (p.Arg230Ser)
c.1395G>C (p.Arg465Ser)
c.1368G>C (p.Arg456Ser)
21g.37505417G>TCA409938384DYRK1Ac.1374G>T (p.Arg458Ser)
c.1347G>T (p.Arg449Ser)
n.738G>T
c.1422G>T (p.Arg474Ser)
n.789G>T
n.4092G>T
c.1260G>T (p.Arg420Ser)
c.1287G>T (p.Arg429Ser)
c.690G>T (p.Arg230Ser)
c.1395G>T (p.Arg465Ser)
c.1368G>T (p.Arg456Ser)
21g.37505418A=CA2388503304DYRK1Ac.1375A= (p.Met459=)
c.1348A= (p.Met450=)
n.739A=
c.1423A= (p.Met475=)
n.790A=
n.4093A=
c.1261A= (p.Met421=)
c.1288A= (p.Met430=)
c.691A= (p.Met231=)
c.1396A= (p.Met466=)
c.1369A= (p.Met457=)
21g.37505418A>CCA409938385DYRK1Ac.1375A>C (p.Met459Leu)
c.1348A>C (p.Met450Leu)
n.739A>C
c.1423A>C (p.Met475Leu)
n.790A>C
n.4093A>C
c.1261A>C (p.Met421Leu)
c.1288A>C (p.Met430Leu)
c.691A>C (p.Met231Leu)
c.1396A>C (p.Met466Leu)
c.1369A>C (p.Met457Leu)
21g.37505418A>GCA320464600DYRK1Ac.1375A>G (p.Met459Val)
c.1348A>G (p.Met450Val)
n.739A>G
c.1423A>G (p.Met475Val)
n.790A>G
n.4093A>G
c.1261A>G (p.Met421Val)
c.1288A>G (p.Met430Val)
c.691A>G (p.Met231Val)
c.1396A>G (p.Met466Val)
c.1369A>G (p.Met457Val)
 dbSNP gnomAD v3 gnomAD v4
21g.37505418A>TCA409938386DYRK1Ac.1375A>T (p.Met459Leu)
c.1348A>T (p.Met450Leu)
n.739A>T
c.1423A>T (p.Met475Leu)
n.790A>T
n.4093A>T
c.1261A>T (p.Met421Leu)
c.1288A>T (p.Met430Leu)
c.691A>T (p.Met231Leu)
c.1396A>T (p.Met466Leu)
c.1369A>T (p.Met457Leu)
 gnomAD v4
21g.37505418_37505422delinsATGCTCA2388503303DYRK1Ac.1375_1379delinsATGCT (p.Met459=)
c.1348_1352delinsATGCT (p.Met450=)
n.739_743delinsATGCT
c.1423_1427delinsATGCT (p.Met475=)
n.790_794delinsATGCT
n.4093_4097delinsATGCT
c.1261_1265delinsATGCT (p.Met421=)
c.1288_1292delinsATGCT (p.Met430=)
c.691_695delinsATGCT (p.Met231=)
c.1396_1400delinsATGCT (p.Met466=)
c.1369_1373delinsATGCT (p.Met457=)
21g.37505419T>ACA409938387DYRK1Ac.1376T>A (p.Met459Lys)
c.1349T>A (p.Met450Lys)
n.740T>A
c.1424T>A (p.Met475Lys)
n.791T>A
n.4094T>A
c.1262T>A (p.Met421Lys)
c.1289T>A (p.Met430Lys)
c.692T>A (p.Met231Lys)
c.1397T>A (p.Met466Lys)
c.1370T>A (p.Met457Lys)
21g.37505419T>CCA409938388DYRK1Ac.1376T>C (p.Met459Thr)
c.1349T>C (p.Met450Thr)
n.740T>C
c.1424T>C (p.Met475Thr)
n.791T>C
n.4094T>C
c.1262T>C (p.Met421Thr)
c.1289T>C (p.Met430Thr)
c.692T>C (p.Met231Thr)
c.1397T>C (p.Met466Thr)
c.1370T>C (p.Met457Thr)
21g.37505419T>GCA409938389DYRK1Ac.1376T>G (p.Met459Arg)
c.1349T>G (p.Met450Arg)
n.740T>G
c.1424T>G (p.Met475Arg)
n.791T>G
n.4094T>G
c.1262T>G (p.Met421Arg)
c.1289T>G (p.Met430Arg)
c.692T>G (p.Met231Arg)
c.1397T>G (p.Met466Arg)
c.1370T>G (p.Met457Arg)
21g.37505421_37505424delCA10603682DYRK1Ac.1378_1381del (p.Leu460IlefsTer?)
c.1351_1354del (p.Leu451IlefsTer?)
n.742_745del
c.1426_1429del (p.Leu476IlefsTer?)
n.793_796del
n.4096_4099del
c.1264_1267del (p.Leu422IlefsTer?)
c.1291_1294del (p.Leu431IlefsTer?)
c.694_697del (p.Leu232IlefsTer?)
c.1399_1402del (p.Leu467IlefsTer?)
c.1372_1375del (p.Leu458IlefsTer?)
 ClinVar dbSNP
21g.37505420G>ACA409938392DYRK1Ac.1377G>A (p.Met459Ile)
c.1350G>A (p.Met450Ile)
n.741G>A
c.1425G>A (p.Met475Ile)
n.792G>A
n.4095G>A
c.1263G>A (p.Met421Ile)
c.1290G>A (p.Met430Ile)
c.693G>A (p.Met231Ile)
c.1398G>A (p.Met466Ile)
c.1371G>A (p.Met457Ile)
21g.37505420G>CCA409938391DYRK1Ac.1377G>C (p.Met459Ile)
c.1350G>C (p.Met450Ile)
n.741G>C
c.1425G>C (p.Met475Ile)
n.792G>C
n.4095G>C
c.1263G>C (p.Met421Ile)
c.1290G>C (p.Met430Ile)
c.693G>C (p.Met231Ile)
c.1398G>C (p.Met466Ile)
c.1371G>C (p.Met457Ile)
21g.37505420G>TCA409938390DYRK1Ac.1377G>T (p.Met459Ile)
c.1350G>T (p.Met450Ile)
n.741G>T
c.1425G>T (p.Met475Ile)
n.792G>T
n.4095G>T
c.1263G>T (p.Met421Ile)
c.1290G>T (p.Met430Ile)
c.693G>T (p.Met231Ile)
c.1398G>T (p.Met466Ile)
c.1371G>T (p.Met457Ile)
21g.37505421C>ACA409938393DYRK1Ac.1378C>A (p.Leu460Ile)
c.1351C>A (p.Leu451Ile)
n.742C>A
c.1426C>A (p.Leu476Ile)
n.793C>A
n.4096C>A
c.1264C>A (p.Leu422Ile)
c.1291C>A (p.Leu431Ile)
c.694C>A (p.Leu232Ile)
c.1399C>A (p.Leu467Ile)
c.1372C>A (p.Leu458Ile)
21g.37505421C>GCA409938394DYRK1Ac.1378C>G (p.Leu460Val)
c.1351C>G (p.Leu451Val)
n.742C>G
c.1426C>G (p.Leu476Val)
n.793C>G
n.4096C>G
c.1264C>G (p.Leu422Val)
c.1291C>G (p.Leu431Val)
c.694C>G (p.Leu232Val)
c.1399C>G (p.Leu467Val)
c.1372C>G (p.Leu458Val)
21g.37505421C>TCA409938395DYRK1Ac.1378C>T (p.Leu460Phe)
c.1351C>T (p.Leu451Phe)
n.742C>T
c.1426C>T (p.Leu476Phe)
n.793C>T
n.4096C>T
c.1264C>T (p.Leu422Phe)
c.1291C>T (p.Leu431Phe)
c.694C>T (p.Leu232Phe)
c.1399C>T (p.Leu467Phe)
c.1372C>T (p.Leu458Phe)
21g.37505421_37505425delinsCTTGACA2388503306DYRK1Ac.1378_1382delinsCTTGA (p.Leu460=)
c.1351_1355delinsCTTGA (p.Leu451=)
n.742_746delinsCTTGA
c.1426_1430delinsCTTGA (p.Leu476=)
n.793_797delinsCTTGA
n.4096_4100delinsCTTGA
c.1264_1268delinsCTTGA (p.Leu422=)
c.1291_1295delinsCTTGA (p.Leu431=)
c.694_698delinsCTTGA (p.Leu232=)
c.1399_1403delinsCTTGA (p.Leu467=)
c.1372_1376delinsCTTGA (p.Leu458=)
21g.37505422T>ACA409938396DYRK1Ac.1379T>A (p.Leu460His)
c.1352T>A (p.Leu451His)
n.743T>A
c.1427T>A (p.Leu476His)
n.794T>A
n.4097T>A
c.1265T>A (p.Leu422His)
c.1292T>A (p.Leu431His)
c.695T>A (p.Leu232His)
c.1400T>A (p.Leu467His)
c.1373T>A (p.Leu458His)
21g.37505422T>CCA409938397DYRK1Ac.1379T>C (p.Leu460Pro)
c.1352T>C (p.Leu451Pro)
n.743T>C
c.1427T>C (p.Leu476Pro)
n.794T>C
n.4097T>C
c.1265T>C (p.Leu422Pro)
c.1292T>C (p.Leu431Pro)
c.695T>C (p.Leu232Pro)
c.1400T>C (p.Leu467Pro)
c.1373T>C (p.Leu458Pro)
 ClinVar
21g.37505422T>GCA409938398DYRK1Ac.1379T>G (p.Leu460Arg)
c.1352T>G (p.Leu451Arg)
n.743T>G
c.1427T>G (p.Leu476Arg)
n.794T>G
n.4097T>G
c.1265T>G (p.Leu422Arg)
c.1292T>G (p.Leu431Arg)
c.695T>G (p.Leu232Arg)
c.1400T>G (p.Leu467Arg)
c.1373T>G (p.Leu458Arg)
21g.37505424_37505427delCA1139666862DYRK1Ac.1381_1384del (p.Asp461MetfsTer?)
c.1354_1357del (p.Asp452MetfsTer?)
n.745_748del
c.1429_1432del (p.Asp477MetfsTer?)
n.796_799del
n.4099_4102del
c.1267_1270del (p.Asp423MetfsTer?)
c.1294_1297del (p.Asp432MetfsTer?)
c.697_700del (p.Asp233MetfsTer?)
c.1402_1405del (p.Asp468MetfsTer?)
c.1375_1378del (p.Asp459MetfsTer?)
 ClinVar dbSNP
21g.37505423T>ACA512327955DYRK1Ac.1380T>A (p.Leu460=)
c.1353T>A (p.Leu451=)
n.744T>A
c.1428T>A (p.Leu476=)
n.795T>A
n.4098T>A
c.1266T>A (p.Leu422=)
c.1293T>A (p.Leu431=)
c.696T>A (p.Leu232=)
c.1401T>A (p.Leu467=)
c.1374T>A (p.Leu458=)
21g.37505423T>CCA512327953DYRK1Ac.1380T>C (p.Leu460=)
c.1353T>C (p.Leu451=)
n.744T>C
c.1428T>C (p.Leu476=)
n.795T>C
n.4098T>C
c.1266T>C (p.Leu422=)
c.1293T>C (p.Leu431=)
c.696T>C (p.Leu232=)
c.1401T>C (p.Leu467=)
c.1374T>C (p.Leu458=)
 gnomAD v4
21g.37505423T>GCA512327954DYRK1Ac.1380T>G (p.Leu460=)
c.1353T>G (p.Leu451=)
n.744T>G
c.1428T>G (p.Leu476=)
n.795T>G
n.4098T>G
c.1266T>G (p.Leu422=)
c.1293T>G (p.Leu431=)
c.696T>G (p.Leu232=)
c.1401T>G (p.Leu467=)
c.1374T>G (p.Leu458=)
 ClinVar dbSNP
21g.37505423T=CA2388503307DYRK1Ac.1380T= (p.Leu460=)
c.1353T= (p.Leu451=)
n.744T=
c.1428T= (p.Leu476=)
n.795T=
n.4098T=
c.1266T= (p.Leu422=)
c.1293T= (p.Leu431=)
c.696T= (p.Leu232=)
c.1401T= (p.Leu467=)
c.1374T= (p.Leu458=)
21g.37505424G>ACA409938399DYRK1Ac.1381G>A (p.Asp461Asn)
c.1354G>A (p.Asp452Asn)
n.745G>A
c.1429G>A (p.Asp477Asn)
n.796G>A
n.4099G>A
c.1267G>A (p.Asp423Asn)
c.1294G>A (p.Asp432Asn)
c.697G>A (p.Asp233Asn)
c.1402G>A (p.Asp468Asn)
c.1375G>A (p.Asp459Asn)
21g.37505424G>CCA409938400DYRK1Ac.1381G>C (p.Asp461His)
c.1354G>C (p.Asp452His)
n.745G>C
c.1429G>C (p.Asp477His)
n.796G>C
n.4099G>C
c.1267G>C (p.Asp423His)
c.1294G>C (p.Asp432His)
c.697G>C (p.Asp233His)
c.1402G>C (p.Asp468His)
c.1375G>C (p.Asp459His)
21g.37505424G=CA2388503309DYRK1Ac.1381G= (p.Asp461=)
c.1354G= (p.Asp452=)
n.745G=
c.1429G= (p.Asp477=)
n.796G=
n.4099G=
c.1267G= (p.Asp423=)
c.1294G= (p.Asp432=)
c.697G= (p.Asp233=)
c.1402G= (p.Asp468=)
c.1375G= (p.Asp459=)
21g.37505424G>TCA409938401DYRK1Ac.1381G>T (p.Asp461Tyr)
c.1354G>T (p.Asp452Tyr)
n.745G>T
c.1429G>T (p.Asp477Tyr)
n.796G>T
n.4099G>T
c.1267G>T (p.Asp423Tyr)
c.1294G>T (p.Asp432Tyr)
c.697G>T (p.Asp233Tyr)
c.1402G>T (p.Asp468Tyr)
c.1375G>T (p.Asp459Tyr)
 dbSNP gnomAD v2 gnomAD v4
21g.37505425A=CA2388503310DYRK1Ac.1382A= (p.Asp461=)
c.1355A= (p.Asp452=)
n.746A=
c.1430A= (p.Asp477=)
n.797A=
n.4100A=
c.1268A= (p.Asp423=)
c.1295A= (p.Asp432=)
c.698A= (p.Asp233=)
c.1403A= (p.Asp468=)
c.1376A= (p.Asp459=)
21g.37505425A>CCA409938402DYRK1Ac.1382A>C (p.Asp461Ala)
c.1355A>C (p.Asp452Ala)
n.746A>C
c.1430A>C (p.Asp477Ala)
n.797A>C
n.4100A>C
c.1268A>C (p.Asp423Ala)
c.1295A>C (p.Asp432Ala)
c.698A>C (p.Asp233Ala)
c.1403A>C (p.Asp468Ala)
c.1376A>C (p.Asp459Ala)
21g.37505425A>GCA409938403DYRK1Ac.1382A>G (p.Asp461Gly)
c.1355A>G (p.Asp452Gly)
n.746A>G
c.1430A>G (p.Asp477Gly)
n.797A>G
n.4100A>G
c.1268A>G (p.Asp423Gly)
c.1295A>G (p.Asp432Gly)
c.698A>G (p.Asp233Gly)
c.1403A>G (p.Asp468Gly)
c.1376A>G (p.Asp459Gly)
21g.37505425A>TCA409938404DYRK1Ac.1382A>T (p.Asp461Val)
c.1355A>T (p.Asp452Val)
n.746A>T
c.1430A>T (p.Asp477Val)
n.797A>T
n.4100A>T
c.1268A>T (p.Asp423Val)
c.1295A>T (p.Asp432Val)
c.698A>T (p.Asp233Val)
c.1403A>T (p.Asp468Val)
c.1376A>T (p.Asp459Val)
21g.37505426T>ACA409938405DYRK1Ac.1383T>A (p.Asp461Glu)
c.1356T>A (p.Asp452Glu)
n.747T>A
c.1431T>A (p.Asp477Glu)
n.798T>A
n.4101T>A
c.1269T>A (p.Asp423Glu)
c.1296T>A (p.Asp432Glu)
c.699T>A (p.Asp233Glu)
c.1404T>A (p.Asp468Glu)
c.1377T>A (p.Asp459Glu)
21g.37505426T>CCA512327956DYRK1Ac.1383T>C (p.Asp461=)
c.1356T>C (p.Asp452=)
n.747T>C
c.1431T>C (p.Asp477=)
n.798T>C
n.4101T>C
c.1269T>C (p.Asp423=)
c.1296T>C (p.Asp432=)
c.699T>C (p.Asp233=)
c.1404T>C (p.Asp468=)
c.1377T>C (p.Asp459=)
 dbSNP gnomAD v3 gnomAD v4
21g.37505426T>GCA409938406DYRK1Ac.1383T>G (p.Asp461Glu)
c.1356T>G (p.Asp452Glu)
n.747T>G
c.1431T>G (p.Asp477Glu)
n.798T>G
n.4101T>G
c.1269T>G (p.Asp423Glu)
c.1296T>G (p.Asp432Glu)
c.699T>G (p.Asp233Glu)
c.1404T>G (p.Asp468Glu)
c.1377T>G (p.Asp459Glu)
21g.37505426T=CA2388503313DYRK1Ac.1383T= (p.Asp461=)
c.1356T= (p.Asp452=)
n.747T=
c.1431T= (p.Asp477=)
n.798T=
n.4101T=
c.1269T= (p.Asp423=)
c.1296T= (p.Asp432=)
c.699T= (p.Asp233=)
c.1404T= (p.Asp468=)
c.1377T= (p.Asp459=)
21g.37505427dupCA645369793DYRK1Ac.1384dup (p.Tyr462LeufsTer2)
c.1357dup (p.Tyr453LeufsTer2)
n.748dup
c.1432dup (p.Tyr478LeufsTer2)
n.799dup
n.4102dup
c.1270dup (p.Tyr424LeufsTer2)
c.1297dup (p.Tyr433LeufsTer2)
c.700dup (p.Tyr234LeufsTer2)
c.1405dup (p.Tyr469LeufsTer2)
c.1378dup (p.Tyr460LeufsTer2)
 ClinVar dbSNP
21g.37505427T>ACA409938407DYRK1Ac.1384T>A (p.Tyr462Asn)
c.1357T>A (p.Tyr453Asn)
n.748T>A
c.1432T>A (p.Tyr478Asn)
n.799T>A
n.4102T>A
c.1270T>A (p.Tyr424Asn)
c.1297T>A (p.Tyr433Asn)
c.700T>A (p.Tyr234Asn)
c.1405T>A (p.Tyr469Asn)
c.1378T>A (p.Tyr460Asn)
21g.37505427T>CCA409938408DYRK1Ac.1384T>C (p.Tyr462His)
c.1357T>C (p.Tyr453His)
n.748T>C
c.1432T>C (p.Tyr478His)
n.799T>C
n.4102T>C
c.1270T>C (p.Tyr424His)
c.1297T>C (p.Tyr433His)
c.700T>C (p.Tyr234His)
c.1405T>C (p.Tyr469His)
c.1378T>C (p.Tyr460His)
 ClinVar dbSNP
21g.37505427T>GCA409938409DYRK1Ac.1384T>G (p.Tyr462Asp)
c.1357T>G (p.Tyr453Asp)
n.748T>G
c.1432T>G (p.Tyr478Asp)
n.799T>G
n.4102T>G
c.1270T>G (p.Tyr424Asp)
c.1297T>G (p.Tyr433Asp)
c.700T>G (p.Tyr234Asp)
c.1405T>G (p.Tyr469Asp)
c.1378T>G (p.Tyr460Asp)
21g.37505427T=CA2388503316DYRK1Ac.1384T= (p.Tyr462=)
c.1357T= (p.Tyr453=)
n.748T=
c.1432T= (p.Tyr478=)
n.799T=
n.4102T=
c.1270T= (p.Tyr424=)
c.1297T= (p.Tyr433=)
c.700T= (p.Tyr234=)
c.1405T= (p.Tyr469=)
c.1378T= (p.Tyr460=)
21g.37505427_37505428insTCCA1139666863DYRK1Ac.1384_1385insTC (p.Tyr462PhefsTer?)
c.1357_1358insTC (p.Tyr453PhefsTer?)
n.748_749insTC
c.1432_1433insTC (p.Tyr478PhefsTer?)
n.799_800insTC
n.4102_4103insTC
c.1270_1271insTC (p.Tyr424PhefsTer?)
c.1297_1298insTC (p.Tyr433PhefsTer?)
c.700_701insTC (p.Tyr234PhefsTer?)
c.1405_1406insTC (p.Tyr469PhefsTer?)
c.1378_1379insTC (p.Tyr460PhefsTer?)
 ClinVar dbSNP
21g.37505428A>CCA409938410DYRK1Ac.1385A>C (p.Tyr462Ser)
c.1358A>C (p.Tyr453Ser)
n.749A>C
c.1433A>C (p.Tyr478Ser)
n.800A>C
n.4103A>C
c.1271A>C (p.Tyr424Ser)
c.1298A>C (p.Tyr433Ser)
c.701A>C (p.Tyr234Ser)
c.1406A>C (p.Tyr469Ser)
c.1379A>C (p.Tyr460Ser)
21g.37505428A>GCA409938411DYRK1Ac.1385A>G (p.Tyr462Cys)
c.1358A>G (p.Tyr453Cys)
n.749A>G
c.1433A>G (p.Tyr478Cys)
n.800A>G
n.4103A>G
c.1271A>G (p.Tyr424Cys)
c.1298A>G (p.Tyr433Cys)
c.701A>G (p.Tyr234Cys)
c.1406A>G (p.Tyr469Cys)
c.1379A>G (p.Tyr460Cys)
21g.37505428A>TCA409938412DYRK1Ac.1385A>T (p.Tyr462Phe)
c.1358A>T (p.Tyr453Phe)
n.749A>T
c.1433A>T (p.Tyr478Phe)
n.800A>T
n.4103A>T
c.1271A>T (p.Tyr424Phe)
c.1298A>T (p.Tyr433Phe)
c.701A>T (p.Tyr234Phe)
c.1406A>T (p.Tyr469Phe)
c.1379A>T (p.Tyr460Phe)
21g.37505429T>ACA409938413DYRK1Ac.1386T>A (p.Tyr462Ter)
c.1359T>A (p.Tyr453Ter)
n.750T>A
c.1434T>A (p.Tyr478Ter)
n.801T>A
n.4104T>A
c.1272T>A (p.Tyr424Ter)
c.1299T>A (p.Tyr433Ter)
c.702T>A (p.Tyr234Ter)
c.1407T>A (p.Tyr469Ter)
c.1380T>A (p.Tyr460Ter)
21g.37505429T>CCA10023969DYRK1Ac.1386T>C (p.Tyr462=)
c.1359T>C (p.Tyr453=)
n.750T>C
c.1434T>C (p.Tyr478=)
n.801T>C
n.4104T>C
c.1272T>C (p.Tyr424=)
c.1299T>C (p.Tyr433=)
c.702T>C (p.Tyr234=)
c.1407T>C (p.Tyr469=)
c.1380T>C (p.Tyr460=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37505429T>GCA409938414DYRK1Ac.1386T>G (p.Tyr462Ter)
c.1359T>G (p.Tyr453Ter)
n.750T>G
c.1434T>G (p.Tyr478Ter)
n.801T>G
n.4104T>G
c.1272T>G (p.Tyr424Ter)
c.1299T>G (p.Tyr433Ter)
c.702T>G (p.Tyr234Ter)
c.1407T>G (p.Tyr469Ter)
c.1380T>G (p.Tyr460Ter)
21g.37505429T=CA2388503319DYRK1Ac.1386T= (p.Tyr462=)
c.1359T= (p.Tyr453=)
n.750T=
c.1434T= (p.Tyr478=)
n.801T=
n.4104T=
c.1272T= (p.Tyr424=)
c.1299T= (p.Tyr433=)
c.702T= (p.Tyr234=)
c.1407T= (p.Tyr469=)
c.1380T= (p.Tyr460=)
21g.37505430G>ACA409938415DYRK1Ac.1387G>A (p.Asp463Asn)
c.1360G>A (p.Asp454Asn)
n.751G>A
c.1435G>A (p.Asp479Asn)
n.802G>A
n.4105G>A
c.1273G>A (p.Asp425Asn)
c.1300G>A (p.Asp434Asn)
c.703G>A (p.Asp235Asn)
c.1408G>A (p.Asp470Asn)
c.1381G>A (p.Asp461Asn)
21g.37505430G>CCA409938416DYRK1Ac.1387G>C (p.Asp463His)
c.1360G>C (p.Asp454His)
n.751G>C
c.1435G>C (p.Asp479His)
n.802G>C
n.4105G>C
c.1273G>C (p.Asp425His)
c.1300G>C (p.Asp434His)
c.703G>C (p.Asp235His)
c.1408G>C (p.Asp470His)
c.1381G>C (p.Asp461His)
21g.37505430G>TCA409938417DYRK1Ac.1387G>T (p.Asp463Tyr)
c.1360G>T (p.Asp454Tyr)
n.751G>T
c.1435G>T (p.Asp479Tyr)
n.802G>T
n.4105G>T
c.1273G>T (p.Asp425Tyr)
c.1300G>T (p.Asp434Tyr)
c.703G>T (p.Asp235Tyr)
c.1408G>T (p.Asp470Tyr)
c.1381G>T (p.Asp461Tyr)
21g.37505431A>CCA409938420DYRK1Ac.1388A>C (p.Asp463Ala)
c.1361A>C (p.Asp454Ala)
n.752A>C
c.1436A>C (p.Asp479Ala)
n.803A>C
n.4106A>C
c.1274A>C (p.Asp425Ala)
c.1301A>C (p.Asp434Ala)
c.704A>C (p.Asp235Ala)
c.1409A>C (p.Asp470Ala)
c.1382A>C (p.Asp461Ala)
21g.37505431A>GCA409938418DYRK1Ac.1388A>G (p.Asp463Gly)
c.1361A>G (p.Asp454Gly)
n.752A>G
c.1436A>G (p.Asp479Gly)
n.803A>G
n.4106A>G
c.1274A>G (p.Asp425Gly)
c.1301A>G (p.Asp434Gly)
c.704A>G (p.Asp235Gly)
c.1409A>G (p.Asp470Gly)
c.1382A>G (p.Asp461Gly)
 gnomAD v4
21g.37505431A>TCA409938419DYRK1Ac.1388A>T (p.Asp463Val)
c.1361A>T (p.Asp454Val)
n.752A>T
c.1436A>T (p.Asp479Val)
n.803A>T
n.4106A>T
c.1274A>T (p.Asp425Val)
c.1301A>T (p.Asp434Val)
c.704A>T (p.Asp235Val)
c.1409A>T (p.Asp470Val)
c.1382A>T (p.Asp461Val)
21g.37505432C>ACA409938421DYRK1Ac.1389C>A (p.Asp463Glu)
c.1362C>A (p.Asp454Glu)
n.753C>A
c.1437C>A (p.Asp479Glu)
n.804C>A
n.4107C>A
c.1275C>A (p.Asp425Glu)
c.1302C>A (p.Asp434Glu)
c.705C>A (p.Asp235Glu)
c.1410C>A (p.Asp470Glu)
c.1383C>A (p.Asp461Glu)
 dbSNP
21g.37505432C=CA2388503321DYRK1Ac.1389C= (p.Asp463=)
c.1362C= (p.Asp454=)
n.753C=
c.1437C= (p.Asp479=)
n.804C=
n.4107C=
c.1275C= (p.Asp425=)
c.1302C= (p.Asp434=)
c.705C= (p.Asp235=)
c.1410C= (p.Asp470=)
c.1383C= (p.Asp461=)
21g.37505432C>GCA409938422DYRK1Ac.1389C>G (p.Asp463Glu)
c.1362C>G (p.Asp454Glu)
n.753C>G
c.1437C>G (p.Asp479Glu)
n.804C>G
n.4107C>G
c.1275C>G (p.Asp425Glu)
c.1302C>G (p.Asp434Glu)
c.705C>G (p.Asp235Glu)
c.1410C>G (p.Asp470Glu)
c.1383C>G (p.Asp461Glu)
21g.37505432C>TCA512327957DYRK1Ac.1389C>T (p.Asp463=)
c.1362C>T (p.Asp454=)
n.753C>T
c.1437C>T (p.Asp479=)
n.804C>T
n.4107C>T
c.1275C>T (p.Asp425=)
c.1302C>T (p.Asp434=)
c.705C>T (p.Asp235=)
c.1410C>T (p.Asp470=)
c.1383C>T (p.Asp461=)
 gnomAD v4
21g.37505433C>ACA409938423DYRK1Ac.1390C>A (p.Pro464Thr)
c.1363C>A (p.Pro455Thr)
n.754C>A
c.1438C>A (p.Pro480Thr)
n.805C>A
n.4108C>A
c.1276C>A (p.Pro426Thr)
c.1303C>A (p.Pro435Thr)
c.706C>A (p.Pro236Thr)
c.1411C>A (p.Pro471Thr)
c.1384C>A (p.Pro462Thr)
21g.37505433C=CA2388503322DYRK1Ac.1390C= (p.Pro464=)
c.1363C= (p.Pro455=)
n.754C=
c.1438C= (p.Pro480=)
n.805C=
n.4108C=
c.1276C= (p.Pro426=)
c.1303C= (p.Pro435=)
c.706C= (p.Pro236=)
c.1411C= (p.Pro471=)
c.1384C= (p.Pro462=)
21g.37505433C>GCA10023971DYRK1Ac.1390C>G (p.Pro464Ala)
c.1363C>G (p.Pro455Ala)
n.754C>G
c.1438C>G (p.Pro480Ala)
n.805C>G
n.4108C>G
c.1276C>G (p.Pro426Ala)
c.1303C>G (p.Pro435Ala)
c.706C>G (p.Pro236Ala)
c.1411C>G (p.Pro471Ala)
c.1384C>G (p.Pro462Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.37505433C>TCA10023970DYRK1Ac.1390C>T (p.Pro464Ser)
c.1363C>T (p.Pro455Ser)
n.754C>T
c.1438C>T (p.Pro480Ser)
n.805C>T
n.4108C>T
c.1276C>T (p.Pro426Ser)
c.1303C>T (p.Pro435Ser)
c.706C>T (p.Pro236Ser)
c.1411C>T (p.Pro471Ser)
c.1384C>T (p.Pro462Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37505434C>ACA409938424DYRK1Ac.1391C>A (p.Pro464His)
c.1364C>A (p.Pro455His)
n.755C>A
c.1439C>A (p.Pro480His)
n.806C>A
n.4109C>A
c.1277C>A (p.Pro426His)
c.1304C>A (p.Pro435His)
c.707C>A (p.Pro236His)
c.1412C>A (p.Pro471His)
c.1385C>A (p.Pro462His)
21g.37505434C>GCA409938425DYRK1Ac.1391C>G (p.Pro464Arg)
c.1364C>G (p.Pro455Arg)
n.755C>G
c.1439C>G (p.Pro480Arg)
n.806C>G
n.4109C>G
c.1277C>G (p.Pro426Arg)
c.1304C>G (p.Pro435Arg)
c.707C>G (p.Pro236Arg)
c.1412C>G (p.Pro471Arg)
c.1385C>G (p.Pro462Arg)
21g.37505434C>TCA409938426DYRK1Ac.1391C>T (p.Pro464Leu)
c.1364C>T (p.Pro455Leu)
n.755C>T
c.1439C>T (p.Pro480Leu)
n.806C>T
n.4109C>T
c.1277C>T (p.Pro426Leu)
c.1304C>T (p.Pro435Leu)
c.707C>T (p.Pro236Leu)
c.1412C>T (p.Pro471Leu)
c.1385C>T (p.Pro462Leu)
21g.37505435C>ACA10023972DYRK1Ac.1392C>A (p.Pro464=)
c.1365C>A (p.Pro455=)
n.756C>A
c.1440C>A (p.Pro480=)
n.807C>A
n.4110C>A
c.1278C>A (p.Pro426=)
c.1305C>A (p.Pro435=)
c.708C>A (p.Pro236=)
c.1413C>A (p.Pro471=)
c.1386C>A (p.Pro462=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37505435C=CA2388503325DYRK1Ac.1392C= (p.Pro464=)
c.1365C= (p.Pro455=)
n.756C=
c.1440C= (p.Pro480=)
n.807C=
n.4110C=
c.1278C= (p.Pro426=)
c.1305C= (p.Pro435=)
c.708C= (p.Pro236=)
c.1413C= (p.Pro471=)
c.1386C= (p.Pro462=)
21g.37505435C>GCA512327958DYRK1Ac.1392C>G (p.Pro464=)
c.1365C>G (p.Pro455=)
n.756C>G
c.1440C>G (p.Pro480=)
n.807C>G
n.4110C>G
c.1278C>G (p.Pro426=)
c.1305C>G (p.Pro435=)
c.708C>G (p.Pro236=)
c.1413C>G (p.Pro471=)
c.1386C>G (p.Pro462=)
21g.37505435C>TCA512327959DYRK1Ac.1392C>T (p.Pro464=)
c.1365C>T (p.Pro455=)
n.756C>T
c.1440C>T (p.Pro480=)
n.807C>T
n.4110C>T
c.1278C>T (p.Pro426=)
c.1305C>T (p.Pro435=)
c.708C>T (p.Pro236=)
c.1413C>T (p.Pro471=)
c.1386C>T (p.Pro462=)
21g.37505436A=CA2388503327DYRK1Ac.1393A= (p.Lys465=)
c.1366A= (p.Lys456=)
n.757A=
c.1441A= (p.Lys481=)
n.808A=
n.4111A=
c.1279A= (p.Lys427=)
c.1306A= (p.Lys436=)
c.709A= (p.Lys237=)
c.1414A= (p.Lys472=)
c.1387A= (p.Lys463=)
21g.37505436A>CCA409938427DYRK1Ac.1393A>C (p.Lys465Gln)
c.1366A>C (p.Lys456Gln)
n.757A>C
c.1441A>C (p.Lys481Gln)
n.808A>C
n.4111A>C
c.1279A>C (p.Lys427Gln)
c.1306A>C (p.Lys436Gln)
c.709A>C (p.Lys237Gln)
c.1414A>C (p.Lys472Gln)
c.1387A>C (p.Lys463Gln)
 dbSNP
21g.37505436A>GCA409938428DYRK1Ac.1393A>G (p.Lys465Glu)
c.1366A>G (p.Lys456Glu)
n.757A>G
c.1441A>G (p.Lys481Glu)
n.808A>G
n.4111A>G
c.1279A>G (p.Lys427Glu)
c.1306A>G (p.Lys436Glu)
c.709A>G (p.Lys237Glu)
c.1414A>G (p.Lys472Glu)
c.1387A>G (p.Lys463Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37505436A>TCA409938429DYRK1Ac.1393A>T (p.Lys465Ter)
c.1366A>T (p.Lys456Ter)
n.757A>T
c.1441A>T (p.Lys481Ter)
n.808A>T
n.4111A>T
c.1279A>T (p.Lys427Ter)
c.1306A>T (p.Lys436Ter)
c.709A>T (p.Lys237Ter)
c.1414A>T (p.Lys472Ter)
c.1387A>T (p.Lys463Ter)
 dbSNP
21g.37505437A=CA2388503329DYRK1Ac.1394A= (p.Lys465=)
c.1367A= (p.Lys456=)
n.758A=
c.1442A= (p.Lys481=)
n.809A=
n.4112A=
c.1280A= (p.Lys427=)
c.1307A= (p.Lys436=)
c.710A= (p.Lys237=)
c.1415A= (p.Lys472=)
c.1388A= (p.Lys463=)
21g.37505437A>CCA409938431DYRK1Ac.1394A>C (p.Lys465Thr)
c.1367A>C (p.Lys456Thr)
n.758A>C
c.1442A>C (p.Lys481Thr)
n.809A>C
n.4112A>C
c.1280A>C (p.Lys427Thr)
c.1307A>C (p.Lys436Thr)
c.710A>C (p.Lys237Thr)
c.1415A>C (p.Lys472Thr)
c.1388A>C (p.Lys463Thr)
 gnomAD v4
21g.37505437A>GCA409938432DYRK1Ac.1394A>G (p.Lys465Arg)
c.1367A>G (p.Lys456Arg)
n.758A>G
c.1442A>G (p.Lys481Arg)
n.809A>G
n.4112A>G
c.1280A>G (p.Lys427Arg)
c.1307A>G (p.Lys436Arg)
c.710A>G (p.Lys237Arg)
c.1415A>G (p.Lys472Arg)
c.1388A>G (p.Lys463Arg)
 dbSNP gnomAD v4
21g.37505437A>TCA409938430DYRK1Ac.1394A>T (p.Lys465Ile)
c.1367A>T (p.Lys456Ile)
n.758A>T
c.1442A>T (p.Lys481Ile)
n.809A>T
n.4112A>T
c.1280A>T (p.Lys427Ile)
c.1307A>T (p.Lys436Ile)
c.710A>T (p.Lys237Ile)
c.1415A>T (p.Lys472Ile)
c.1388A>T (p.Lys463Ile)
21g.37505438A>CCA409938434DYRK1Ac.1395A>C (p.Lys465Asn)
c.1368A>C (p.Lys456Asn)
n.759A>C
c.1443A>C (p.Lys481Asn)
n.810A>C
n.4113A>C
c.1281A>C (p.Lys427Asn)
c.1308A>C (p.Lys436Asn)
c.711A>C (p.Lys237Asn)
c.1416A>C (p.Lys472Asn)
c.1389A>C (p.Lys463Asn)
21g.37505438A>GCA512327960DYRK1Ac.1395A>G (p.Lys465=)
c.1368A>G (p.Lys456=)
n.759A>G
c.1443A>G (p.Lys481=)
n.810A>G
n.4113A>G
c.1281A>G (p.Lys427=)
c.1308A>G (p.Lys436=)
c.711A>G (p.Lys237=)
c.1416A>G (p.Lys472=)
c.1389A>G (p.Lys463=)
21g.37505438A>TCA409938433DYRK1Ac.1395A>T (p.Lys465Asn)
c.1368A>T (p.Lys456Asn)
n.759A>T
c.1443A>T (p.Lys481Asn)
n.810A>T
n.4113A>T
c.1281A>T (p.Lys427Asn)
c.1308A>T (p.Lys436Asn)
c.711A>T (p.Lys237Asn)
c.1416A>T (p.Lys472Asn)
c.1389A>T (p.Lys463Asn)
21g.37505439A>CCA409938435DYRK1Ac.1396A>C (p.Thr466Pro)
c.1369A>C (p.Thr457Pro)
n.760A>C
c.1444A>C (p.Thr482Pro)
n.811A>C
n.4114A>C
c.1282A>C (p.Thr428Pro)
c.1309A>C (p.Thr437Pro)
c.712A>C (p.Thr238Pro)
c.1417A>C (p.Thr473Pro)
c.1390A>C (p.Thr464Pro)
21g.37505439A>GCA409938436DYRK1Ac.1396A>G (p.Thr466Ala)
c.1369A>G (p.Thr457Ala)
n.760A>G
c.1444A>G (p.Thr482Ala)
n.811A>G
n.4114A>G
c.1282A>G (p.Thr428Ala)
c.1309A>G (p.Thr437Ala)
c.712A>G (p.Thr238Ala)
c.1417A>G (p.Thr473Ala)
c.1390A>G (p.Thr464Ala)
21g.37505439A>TCA409938437DYRK1Ac.1396A>T (p.Thr466Ser)
c.1369A>T (p.Thr457Ser)
n.760A>T
c.1444A>T (p.Thr482Ser)
n.811A>T
n.4114A>T
c.1282A>T (p.Thr428Ser)
c.1309A>T (p.Thr437Ser)
c.712A>T (p.Thr238Ser)
c.1417A>T (p.Thr473Ser)
c.1390A>T (p.Thr464Ser)
21g.37505440C>ACA409938438DYRK1Ac.1397C>A (p.Thr466Asn)
c.1370C>A (p.Thr457Asn)
n.761C>A
c.1445C>A (p.Thr482Asn)
n.812C>A
n.4115C>A
c.1283C>A (p.Thr428Asn)
c.1310C>A (p.Thr437Asn)
c.713C>A (p.Thr238Asn)
c.1418C>A (p.Thr473Asn)
c.1391C>A (p.Thr464Asn)
21g.37505440C>GCA409938439DYRK1Ac.1397C>G (p.Thr466Ser)
c.1370C>G (p.Thr457Ser)
n.761C>G
c.1445C>G (p.Thr482Ser)
n.812C>G
n.4115C>G
c.1283C>G (p.Thr428Ser)
c.1310C>G (p.Thr437Ser)
c.713C>G (p.Thr238Ser)
c.1418C>G (p.Thr473Ser)
c.1391C>G (p.Thr464Ser)
21g.37505440C>TCA409938440DYRK1Ac.1397C>T (p.Thr466Ile)
c.1370C>T (p.Thr457Ile)
n.761C>T
c.1445C>T (p.Thr482Ile)
n.812C>T
n.4115C>T
c.1283C>T (p.Thr428Ile)
c.1310C>T (p.Thr437Ile)
c.713C>T (p.Thr238Ile)
c.1418C>T (p.Thr473Ile)
c.1391C>T (p.Thr464Ile)
21g.37505441T>ACA512327961DYRK1Ac.1398T>A (p.Thr466=)
c.1371T>A (p.Thr457=)
n.762T>A
c.1446T>A (p.Thr482=)
n.813T>A
n.4116T>A
c.1284T>A (p.Thr428=)
c.1311T>A (p.Thr437=)
c.714T>A (p.Thr238=)
c.1419T>A (p.Thr473=)
c.1392T>A (p.Thr464=)
21g.37505441T>CCA512327962DYRK1Ac.1398T>C (p.Thr466=)
c.1371T>C (p.Thr457=)
n.762T>C
c.1446T>C (p.Thr482=)
n.813T>C
n.4116T>C
c.1284T>C (p.Thr428=)
c.1311T>C (p.Thr437=)
c.714T>C (p.Thr238=)
c.1419T>C (p.Thr473=)
c.1392T>C (p.Thr464=)
21g.37505441T>GCA512327963DYRK1Ac.1398T>G (p.Thr466=)
c.1371T>G (p.Thr457=)
n.762T>G
c.1446T>G (p.Thr482=)
n.813T>G
n.4116T>G
c.1284T>G (p.Thr428=)
c.1311T>G (p.Thr437=)
c.714T>G (p.Thr238=)
c.1419T>G (p.Thr473=)
c.1392T>G (p.Thr464=)
 gnomAD v4
21g.37505442C>ACA512327964DYRK1Ac.1399C>A (p.Arg467=)
c.1372C>A (p.Arg458=)
n.763C>A
c.1447C>A (p.Arg483=)
n.814C>A
n.4117C>A
c.1285C>A (p.Arg429=)
c.1312C>A (p.Arg438=)
c.715C>A (p.Arg239=)
c.1420C>A (p.Arg474=)
c.1393C>A (p.Arg465=)
21g.37505442C=CA2388503331DYRK1Ac.1399C= (p.Arg467=)
c.1372C= (p.Arg458=)
n.763C=
c.1447C= (p.Arg483=)
n.814C=
n.4117C=
c.1285C= (p.Arg429=)
c.1312C= (p.Arg438=)
c.715C= (p.Arg239=)
c.1420C= (p.Arg474=)
c.1393C= (p.Arg465=)
21g.37505442C>GCA409938441DYRK1Ac.1399C>G (p.Arg467Gly)
c.1372C>G (p.Arg458Gly)
n.763C>G
c.1447C>G (p.Arg483Gly)
n.814C>G
n.4117C>G
c.1285C>G (p.Arg429Gly)
c.1312C>G (p.Arg438Gly)
c.715C>G (p.Arg239Gly)
c.1420C>G (p.Arg474Gly)
c.1393C>G (p.Arg465Gly)
21g.37505442C>TCA278526DYRK1Ac.1399C>T (p.Arg467Ter)
c.1372C>T (p.Arg458Ter)
n.763C>T
c.1447C>T (p.Arg483Ter)
n.814C>T
n.4117C>T
c.1285C>T (p.Arg429Ter)
c.1312C>T (p.Arg438Ter)
c.715C>T (p.Arg239Ter)
c.1420C>T (p.Arg474Ter)
c.1393C>T (p.Arg465Ter)
 ClinVar dbSNP COSMIC
21g.37505443G>ACA278538DYRK1Ac.1400G>A (p.Arg467Gln)
c.1373G>A (p.Arg458Gln)
n.764G>A
c.1448G>A (p.Arg483Gln)
n.815G>A
n.4118G>A
c.1286G>A (p.Arg429Gln)
c.1313G>A (p.Arg438Gln)
c.716G>A (p.Arg239Gln)
c.1421G>A (p.Arg474Gln)
c.1394G>A (p.Arg465Gln)
 ClinVar dbSNP COSMIC COSMIC COSMIC
21g.37505443G>CCA409938442DYRK1Ac.1400G>C (p.Arg467Pro)
c.1373G>C (p.Arg458Pro)
n.764G>C
c.1448G>C (p.Arg483Pro)
n.815G>C
n.4118G>C
c.1286G>C (p.Arg429Pro)
c.1313G>C (p.Arg438Pro)
c.716G>C (p.Arg239Pro)
c.1421G>C (p.Arg474Pro)
c.1394G>C (p.Arg465Pro)
21g.37505443G=CA2388503336DYRK1Ac.1400G= (p.Arg467=)
c.1373G= (p.Arg458=)
n.764G=
c.1448G= (p.Arg483=)
n.815G=
n.4118G=
c.1286G= (p.Arg429=)
c.1313G= (p.Arg438=)
c.716G= (p.Arg239=)
c.1421G= (p.Arg474=)
c.1394G= (p.Arg465=)
21g.37505443G>TCA409938443DYRK1Ac.1400G>T (p.Arg467Leu)
c.1373G>T (p.Arg458Leu)
n.764G>T
c.1448G>T (p.Arg483Leu)
n.815G>T
n.4118G>T
c.1286G>T (p.Arg429Leu)
c.1313G>T (p.Arg438Leu)
c.716G>T (p.Arg239Leu)
c.1421G>T (p.Arg474Leu)
c.1394G>T (p.Arg465Leu)
21g.37505443dupCA658653861DYRK1Ac.1400dup (p.Ile468AsnfsTer17)
c.1373dup (p.Ile459AsnfsTer17)
n.764dup
c.1448dup (p.Ile484AsnfsTer17)
n.815dup
n.4118dup
c.1286dup (p.Ile430AsnfsTer17)
c.1313dup (p.Ile439AsnfsTer17)
c.716dup (p.Ile240AsnfsTer17)
c.1421dup (p.Ile475AsnfsTer17)
c.1394dup (p.Ile466AsnfsTer17)
 ClinVar dbSNP
21g.37505444A>CCA512327965DYRK1Ac.1401A>C (p.Arg467=)
c.1374A>C (p.Arg458=)
n.765A>C
c.1449A>C (p.Arg483=)
n.816A>C
n.4119A>C
c.1287A>C (p.Arg429=)
c.1314A>C (p.Arg438=)
c.717A>C (p.Arg239=)
c.1422A>C (p.Arg474=)
c.1395A>C (p.Arg465=)
21g.37505444A>GCA512327967DYRK1Ac.1401A>G (p.Arg467=)
c.1374A>G (p.Arg458=)
n.765A>G
c.1449A>G (p.Arg483=)
n.816A>G
n.4119A>G
c.1287A>G (p.Arg429=)
c.1314A>G (p.Arg438=)
c.717A>G (p.Arg239=)
c.1422A>G (p.Arg474=)
c.1395A>G (p.Arg465=)
21g.37505444A>TCA512327966DYRK1Ac.1401A>T (p.Arg467=)
c.1374A>T (p.Arg458=)
n.765A>T
c.1449A>T (p.Arg483=)
n.816A>T
n.4119A>T
c.1287A>T (p.Arg429=)
c.1314A>T (p.Arg438=)
c.717A>T (p.Arg239=)
c.1422A>T (p.Arg474=)
c.1395A>T (p.Arg465=)
 gnomAD v4
21g.37505444delinsGGCA2695223218DYRK1Ac.1401delinsGG (p.Ile468AspfsTer17)
c.1374delinsGG (p.Ile459AspfsTer17)
n.765delinsGG
c.1449delinsGG (p.Ile484AspfsTer17)
n.816delinsGG
n.4119delinsGG
c.1287delinsGG (p.Ile430AspfsTer17)
c.1314delinsGG (p.Ile439AspfsTer17)
c.717delinsGG (p.Ile240AspfsTer17)
c.1422delinsGG (p.Ile475AspfsTer17)
c.1395delinsGG (p.Ile466AspfsTer17)

Number of alleles fetched