Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.37505442C>A | CA512327964 | DYRK1A | c.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=) | |
21 | g.37505442C= | CA2388503331 | DYRK1A | c.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=) | |
21 | g.37505442C>G | CA409938441 | DYRK1A | c.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) | |
21 | g.37505442C>T | CA278526 | DYRK1A | c.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 |
21 | g.37505443G>A | CA278538 | DYRK1A | c.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 |
21 | g.37505443G>C | CA409938442 | DYRK1A | c.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) | |
21 | g.37505443G= | CA2388503336 | DYRK1A | c.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=) | |
21 | g.37505443G>T | CA409938443 | DYRK1A | c.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) | |
21 | g.37505443dup | CA658653861 | DYRK1A | c.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 |
21 | g.37505444A>C | CA512327965 | DYRK1A | c.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=) | |
21 | g.37505444A>G | CA512327967 | DYRK1A | c.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=) | |
21 | g.37505444A>T | CA512327966 | DYRK1A | c.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 |
21 | g.37505444delinsGG | CA2695223218 | DYRK1A | c.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) | |
21 | g.37505444_37505445insG | CA2695223219 | DYRK1A | c.1401_1402insG (p.Ile468AspfsTer17) c.1374_1375insG (p.Ile459AspfsTer17) n.765_766insG c.1449_1450insG (p.Ile484AspfsTer17) n.816_817insG n.4119_4120insG c.1287_1288insG (p.Ile430AspfsTer17) c.1314_1315insG (p.Ile439AspfsTer17) c.717_718insG (p.Ile240AspfsTer17) c.1422_1423insG (p.Ile475AspfsTer17) c.1395_1396insG (p.Ile466AspfsTer17) | |
21 | g.37505445A= | CA2388503338 | DYRK1A | c.1402A= (p.Ile468=) c.1375A= (p.Ile459=) n.766A= c.1450A= (p.Ile484=) n.817A= n.4120A= c.1288A= (p.Ile430=) c.1315A= (p.Ile439=) c.718A= (p.Ile240=) c.1423A= (p.Ile475=) c.1396A= (p.Ile466=) | |
21 | g.37505445A>C | CA409938445 | DYRK1A | c.1402A>C (p.Ile468Leu) c.1375A>C (p.Ile459Leu) n.766A>C c.1450A>C (p.Ile484Leu) n.817A>C n.4120A>C c.1288A>C (p.Ile430Leu) c.1315A>C (p.Ile439Leu) c.718A>C (p.Ile240Leu) c.1423A>C (p.Ile475Leu) c.1396A>C (p.Ile466Leu) | |
21 | g.37505445A>G | CA409938446 | DYRK1A | c.1402A>G (p.Ile468Val) c.1375A>G (p.Ile459Val) n.766A>G c.1450A>G (p.Ile484Val) n.817A>G n.4120A>G c.1288A>G (p.Ile430Val) c.1315A>G (p.Ile439Val) c.718A>G (p.Ile240Val) c.1423A>G (p.Ile475Val) c.1396A>G (p.Ile466Val) | |
21 | g.37505445A>T | CA409938444 | DYRK1A | c.1402A>T (p.Ile468Phe) c.1375A>T (p.Ile459Phe) n.766A>T c.1450A>T (p.Ile484Phe) n.817A>T n.4120A>T c.1288A>T (p.Ile430Phe) c.1315A>T (p.Ile439Phe) c.718A>T (p.Ile240Phe) c.1423A>T (p.Ile475Phe) c.1396A>T (p.Ile466Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37505446T>A | CA409938447 | DYRK1A | c.1403T>A (p.Ile468Asn) c.1376T>A (p.Ile459Asn) n.767T>A c.1451T>A (p.Ile484Asn) n.818T>A n.4121T>A c.1289T>A (p.Ile430Asn) c.1316T>A (p.Ile439Asn) c.719T>A (p.Ile240Asn) c.1424T>A (p.Ile475Asn) c.1397T>A (p.Ile466Asn) | |
21 | g.37505446T>C | CA409938448 | DYRK1A | c.1403T>C (p.Ile468Thr) c.1376T>C (p.Ile459Thr) n.767T>C c.1451T>C (p.Ile484Thr) n.818T>C n.4121T>C c.1289T>C (p.Ile430Thr) c.1316T>C (p.Ile439Thr) c.719T>C (p.Ile240Thr) c.1424T>C (p.Ile475Thr) c.1397T>C (p.Ile466Thr) | |
21 | g.37505446T>G | CA409938449 | DYRK1A | c.1403T>G (p.Ile468Ser) c.1376T>G (p.Ile459Ser) n.767T>G c.1451T>G (p.Ile484Ser) n.818T>G n.4121T>G c.1289T>G (p.Ile430Ser) c.1316T>G (p.Ile439Ser) c.719T>G (p.Ile240Ser) c.1424T>G (p.Ile475Ser) c.1397T>G (p.Ile466Ser) | |
21 | g.37505447T>A | CA512327969 | DYRK1A | c.1404T>A (p.Ile468=) c.1377T>A (p.Ile459=) n.768T>A c.1452T>A (p.Ile484=) n.819T>A n.4122T>A c.1290T>A (p.Ile430=) c.1317T>A (p.Ile439=) c.720T>A (p.Ile240=) c.1425T>A (p.Ile475=) c.1398T>A (p.Ile466=) | |
21 | g.37505447T>C | CA512327968 | DYRK1A | c.1404T>C (p.Ile468=) c.1377T>C (p.Ile459=) n.768T>C c.1452T>C (p.Ile484=) n.819T>C n.4122T>C c.1290T>C (p.Ile430=) c.1317T>C (p.Ile439=) c.720T>C (p.Ile240=) c.1425T>C (p.Ile475=) c.1398T>C (p.Ile466=) | |
21 | g.37505447T>G | CA409938450 | DYRK1A | c.1404T>G (p.Ile468Met) c.1377T>G (p.Ile459Met) n.768T>G c.1452T>G (p.Ile484Met) n.819T>G n.4122T>G c.1290T>G (p.Ile430Met) c.1317T>G (p.Ile439Met) c.720T>G (p.Ile240Met) c.1425T>G (p.Ile475Met) c.1398T>G (p.Ile466Met) | |
21 | g.37505447_37505448delinsTC | CA2388503340 | DYRK1A | c.1404_1405delinsTC (p.Ile468=) c.1377_1378delinsTC (p.Ile459=) n.768_769delinsTC c.1452_1453delinsTC (p.Ile484=) n.819_820delinsTC n.4122_4123delinsTC c.1290_1291delinsTC (p.Ile430=) c.1317_1318delinsTC (p.Ile439=) c.720_721delinsTC (p.Ile240=) c.1425_1426delinsTC (p.Ile475=) c.1398_1399delinsTC (p.Ile466=) | |
21 | g.37505448del | CA645373286 | DYRK1A | c.1405del (p.Gln469AsnfsTer?) c.1378del (p.Gln460AsnfsTer?) n.769del c.1453del (p.Gln485AsnfsTer?) n.820del n.4123del c.1291del (p.Gln431AsnfsTer?) c.1318del (p.Gln440AsnfsTer?) c.721del (p.Gln241AsnfsTer?) c.1426del (p.Gln476AsnfsTer?) c.1399del (p.Gln467AsnfsTer?) | ClinVar dbSNP |
21 | g.37505448C>A | CA409938453 | DYRK1A | c.1405C>A (p.Gln469Lys) c.1378C>A (p.Gln460Lys) n.769C>A c.1453C>A (p.Gln485Lys) n.820C>A n.4123C>A c.1291C>A (p.Gln431Lys) c.1318C>A (p.Gln440Lys) c.721C>A (p.Gln241Lys) c.1426C>A (p.Gln476Lys) c.1399C>A (p.Gln467Lys) | |
21 | g.37505448C= | CA2388503344 | DYRK1A | c.1405C= (p.Gln469=) c.1378C= (p.Gln460=) n.769C= c.1453C= (p.Gln485=) n.820C= n.4123C= c.1291C= (p.Gln431=) c.1318C= (p.Gln440=) c.721C= (p.Gln241=) c.1426C= (p.Gln476=) c.1399C= (p.Gln467=) | |
21 | g.37505448C>G | CA409938452 | DYRK1A | c.1405C>G (p.Gln469Glu) c.1378C>G (p.Gln460Glu) n.769C>G c.1453C>G (p.Gln485Glu) n.820C>G n.4123C>G c.1291C>G (p.Gln431Glu) c.1318C>G (p.Gln440Glu) c.721C>G (p.Gln241Glu) c.1426C>G (p.Gln476Glu) c.1399C>G (p.Gln467Glu) | |
21 | g.37505448C>T | CA409938451 | DYRK1A | c.1405C>T (p.Gln469Ter) c.1378C>T (p.Gln460Ter) n.769C>T c.1453C>T (p.Gln485Ter) n.820C>T n.4123C>T c.1291C>T (p.Gln431Ter) c.1318C>T (p.Gln440Ter) c.721C>T (p.Gln241Ter) c.1426C>T (p.Gln476Ter) c.1399C>T (p.Gln467Ter) | ClinVar dbSNP |
21 | g.37505449A>C | CA409938454 | DYRK1A | c.1406A>C (p.Gln469Pro) c.1379A>C (p.Gln460Pro) n.770A>C c.1454A>C (p.Gln485Pro) n.821A>C n.4124A>C c.1292A>C (p.Gln431Pro) c.1319A>C (p.Gln440Pro) c.722A>C (p.Gln241Pro) c.1427A>C (p.Gln476Pro) c.1400A>C (p.Gln467Pro) | |
21 | g.37505449A>G | CA409938455 | DYRK1A | c.1406A>G (p.Gln469Arg) c.1379A>G (p.Gln460Arg) n.770A>G c.1454A>G (p.Gln485Arg) n.821A>G n.4124A>G c.1292A>G (p.Gln431Arg) c.1319A>G (p.Gln440Arg) c.722A>G (p.Gln241Arg) c.1427A>G (p.Gln476Arg) c.1400A>G (p.Gln467Arg) | |
21 | g.37505449A>T | CA409938456 | DYRK1A | c.1406A>T (p.Gln469Leu) c.1379A>T (p.Gln460Leu) n.770A>T c.1454A>T (p.Gln485Leu) n.821A>T n.4124A>T c.1292A>T (p.Gln431Leu) c.1319A>T (p.Gln440Leu) c.722A>T (p.Gln241Leu) c.1427A>T (p.Gln476Leu) c.1400A>T (p.Gln467Leu) | gnomAD v4 |
21 | g.37505450A= | CA2388503346 | DYRK1A | c.1407A= (p.Gln469=) c.1380A= (p.Gln460=) n.771A= c.1455A= (p.Gln485=) n.822A= n.4125A= c.1293A= (p.Gln431=) c.1320A= (p.Gln440=) c.723A= (p.Gln241=) c.1428A= (p.Gln476=) c.1401A= (p.Gln467=) | |
21 | g.37505450A>C | CA409938457 | DYRK1A | c.1407A>C (p.Gln469His) c.1380A>C (p.Gln460His) n.771A>C c.1455A>C (p.Gln485His) n.822A>C n.4125A>C c.1293A>C (p.Gln431His) c.1320A>C (p.Gln440His) c.723A>C (p.Gln241His) c.1428A>C (p.Gln476His) c.1401A>C (p.Gln467His) | |
21 | g.37505450A>G | CA10023973 | DYRK1A | c.1407A>G (p.Gln469=) c.1380A>G (p.Gln460=) n.771A>G c.1455A>G (p.Gln485=) n.822A>G n.4125A>G c.1293A>G (p.Gln431=) c.1320A>G (p.Gln440=) c.723A>G (p.Gln241=) c.1428A>G (p.Gln476=) c.1401A>G (p.Gln467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37505450A>T | CA409938458 | DYRK1A | c.1407A>T (p.Gln469His) c.1380A>T (p.Gln460His) n.771A>T c.1455A>T (p.Gln485His) n.822A>T n.4125A>T c.1293A>T (p.Gln431His) c.1320A>T (p.Gln440His) c.723A>T (p.Gln241His) c.1428A>T (p.Gln476His) c.1401A>T (p.Gln467His) | |
21 | g.37505451C>A | CA409938461 | DYRK1A | c.1408C>A (p.Pro470Thr) c.1381C>A (p.Pro461Thr) n.772C>A c.1456C>A (p.Pro486Thr) n.823C>A n.4126C>A c.1294C>A (p.Pro432Thr) c.1321C>A (p.Pro441Thr) c.724C>A (p.Pro242Thr) c.1429C>A (p.Pro477Thr) c.1402C>A (p.Pro468Thr) | gnomAD v4 |
21 | g.37505451C= | CA2388503348 | DYRK1A | c.1408C= (p.Pro470=) c.1381C= (p.Pro461=) n.772C= c.1456C= (p.Pro486=) n.823C= n.4126C= c.1294C= (p.Pro432=) c.1321C= (p.Pro441=) c.724C= (p.Pro242=) c.1429C= (p.Pro477=) c.1402C= (p.Pro468=) | |
21 | g.37505451C>G | CA409938460 | DYRK1A | c.1408C>G (p.Pro470Ala) c.1381C>G (p.Pro461Ala) n.772C>G c.1456C>G (p.Pro486Ala) n.823C>G n.4126C>G c.1294C>G (p.Pro432Ala) c.1321C>G (p.Pro441Ala) c.724C>G (p.Pro242Ala) c.1429C>G (p.Pro477Ala) c.1402C>G (p.Pro468Ala) | dbSNP gnomAD v4 |
21 | g.37505451C>T | CA409938459 | DYRK1A | c.1408C>T (p.Pro470Ser) c.1381C>T (p.Pro461Ser) n.772C>T c.1456C>T (p.Pro486Ser) n.823C>T n.4126C>T c.1294C>T (p.Pro432Ser) c.1321C>T (p.Pro441Ser) c.724C>T (p.Pro242Ser) c.1429C>T (p.Pro477Ser) c.1402C>T (p.Pro468Ser) | |
21 | g.37505452C>A | CA409938462 | DYRK1A | c.1409C>A (p.Pro470His) c.1382C>A (p.Pro461His) n.773C>A c.1457C>A (p.Pro486His) n.824C>A n.4127C>A c.1295C>A (p.Pro432His) c.1322C>A (p.Pro441His) c.725C>A (p.Pro242His) c.1430C>A (p.Pro477His) c.1403C>A (p.Pro468His) | |
21 | g.37505452C= | CA2388503349 | DYRK1A | c.1409C= (p.Pro470=) c.1382C= (p.Pro461=) n.773C= c.1457C= (p.Pro486=) n.824C= n.4127C= c.1295C= (p.Pro432=) c.1322C= (p.Pro441=) c.725C= (p.Pro242=) c.1430C= (p.Pro477=) c.1403C= (p.Pro468=) | |
21 | g.37505452C>G | CA409938464 | DYRK1A | c.1409C>G (p.Pro470Arg) c.1382C>G (p.Pro461Arg) n.773C>G c.1457C>G (p.Pro486Arg) n.824C>G n.4127C>G c.1295C>G (p.Pro432Arg) c.1322C>G (p.Pro441Arg) c.725C>G (p.Pro242Arg) c.1430C>G (p.Pro477Arg) c.1403C>G (p.Pro468Arg) | |
21 | g.37505452C>T | CA409938463 | DYRK1A | c.1409C>T (p.Pro470Leu) c.1382C>T (p.Pro461Leu) n.773C>T c.1457C>T (p.Pro486Leu) n.824C>T n.4127C>T c.1295C>T (p.Pro432Leu) c.1322C>T (p.Pro441Leu) c.725C>T (p.Pro242Leu) c.1430C>T (p.Pro477Leu) c.1403C>T (p.Pro468Leu) | ClinVar dbSNP |
21 | g.37505453T>A | CA512327970 | DYRK1A | c.1410T>A (p.Pro470=) c.1383T>A (p.Pro461=) n.774T>A c.1458T>A (p.Pro486=) n.825T>A n.4128T>A c.1296T>A (p.Pro432=) c.1323T>A (p.Pro441=) c.726T>A (p.Pro242=) c.1431T>A (p.Pro477=) c.1404T>A (p.Pro468=) | |
21 | g.37505453T>C | CA512327971 | DYRK1A | c.1410T>C (p.Pro470=) c.1383T>C (p.Pro461=) n.774T>C c.1458T>C (p.Pro486=) n.825T>C n.4128T>C c.1296T>C (p.Pro432=) c.1323T>C (p.Pro441=) c.726T>C (p.Pro242=) c.1431T>C (p.Pro477=) c.1404T>C (p.Pro468=) | gnomAD v4 |
21 | g.37505453T>G | CA512327972 | DYRK1A | c.1410T>G (p.Pro470=) c.1383T>G (p.Pro461=) n.774T>G c.1458T>G (p.Pro486=) n.825T>G n.4128T>G c.1296T>G (p.Pro432=) c.1323T>G (p.Pro441=) c.726T>G (p.Pro242=) c.1431T>G (p.Pro477=) c.1404T>G (p.Pro468=) | |
21 | g.37505454T>A | CA409938465 | DYRK1A | c.1411T>A (p.Tyr471Asn) c.1384T>A (p.Tyr462Asn) n.775T>A c.1459T>A (p.Tyr487Asn) n.826T>A n.4129T>A c.1297T>A (p.Tyr433Asn) c.1324T>A (p.Tyr442Asn) c.727T>A (p.Tyr243Asn) c.1432T>A (p.Tyr478Asn) c.1405T>A (p.Tyr469Asn) | |
21 | g.37505454T>C | CA409938466 | DYRK1A | c.1411T>C (p.Tyr471His) c.1384T>C (p.Tyr462His) n.775T>C c.1459T>C (p.Tyr487His) n.826T>C n.4129T>C c.1297T>C (p.Tyr433His) c.1324T>C (p.Tyr442His) c.727T>C (p.Tyr243His) c.1432T>C (p.Tyr478His) c.1405T>C (p.Tyr469His) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.37505454T>G | CA409938467 | DYRK1A | c.1411T>G (p.Tyr471Asp) c.1384T>G (p.Tyr462Asp) n.775T>G c.1459T>G (p.Tyr487Asp) n.826T>G n.4129T>G c.1297T>G (p.Tyr433Asp) c.1324T>G (p.Tyr442Asp) c.727T>G (p.Tyr243Asp) c.1432T>G (p.Tyr478Asp) c.1405T>G (p.Tyr469Asp) | |
21 | g.37505454T= | CA2388503350 | DYRK1A | c.1411T= (p.Tyr471=) c.1384T= (p.Tyr462=) n.775T= c.1459T= (p.Tyr487=) n.826T= n.4129T= c.1297T= (p.Tyr433=) c.1324T= (p.Tyr442=) c.727T= (p.Tyr243=) c.1432T= (p.Tyr478=) c.1405T= (p.Tyr469=) | |
21 | g.37505455A= | CA2388503351 | DYRK1A | c.1412A= (p.Tyr471=) c.1385A= (p.Tyr462=) n.776A= c.1460A= (p.Tyr487=) n.827A= n.4130A= c.1298A= (p.Tyr433=) c.1325A= (p.Tyr442=) c.728A= (p.Tyr243=) c.1433A= (p.Tyr478=) c.1406A= (p.Tyr469=) | |
21 | g.37505455A>C | CA409938468 | DYRK1A | c.1412A>C (p.Tyr471Ser) c.1385A>C (p.Tyr462Ser) n.776A>C c.1460A>C (p.Tyr487Ser) n.827A>C n.4130A>C c.1298A>C (p.Tyr433Ser) c.1325A>C (p.Tyr442Ser) c.728A>C (p.Tyr243Ser) c.1433A>C (p.Tyr478Ser) c.1406A>C (p.Tyr469Ser) | |
21 | g.37505455A>G | CA10023974 | DYRK1A | c.1412A>G (p.Tyr471Cys) c.1385A>G (p.Tyr462Cys) n.776A>G c.1460A>G (p.Tyr487Cys) n.827A>G n.4130A>G c.1298A>G (p.Tyr433Cys) c.1325A>G (p.Tyr442Cys) c.728A>G (p.Tyr243Cys) c.1433A>G (p.Tyr478Cys) c.1406A>G (p.Tyr469Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
21 | g.37505455A>T | CA409938469 | DYRK1A | c.1412A>T (p.Tyr471Phe) c.1385A>T (p.Tyr462Phe) n.776A>T c.1460A>T (p.Tyr487Phe) n.827A>T n.4130A>T c.1298A>T (p.Tyr433Phe) c.1325A>T (p.Tyr442Phe) c.728A>T (p.Tyr243Phe) c.1433A>T (p.Tyr478Phe) c.1406A>T (p.Tyr469Phe) | COSMIC |
21 | g.37505456T>A | CA409938470 | DYRK1A | c.1413T>A (p.Tyr471Ter) c.1386T>A (p.Tyr462Ter) n.777T>A c.1461T>A (p.Tyr487Ter) n.828T>A n.4131T>A c.1299T>A (p.Tyr433Ter) c.1326T>A (p.Tyr442Ter) c.729T>A (p.Tyr243Ter) c.1434T>A (p.Tyr478Ter) c.1407T>A (p.Tyr469Ter) | |
21 | g.37505456T>C | CA512327973 | DYRK1A | c.1413T>C (p.Tyr471=) c.1386T>C (p.Tyr462=) n.777T>C c.1461T>C (p.Tyr487=) n.828T>C n.4131T>C c.1299T>C (p.Tyr433=) c.1326T>C (p.Tyr442=) c.729T>C (p.Tyr243=) c.1434T>C (p.Tyr478=) c.1407T>C (p.Tyr469=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.37505456T>G | CA409938471 | DYRK1A | c.1413T>G (p.Tyr471Ter) c.1386T>G (p.Tyr462Ter) n.777T>G c.1461T>G (p.Tyr487Ter) n.828T>G n.4131T>G c.1299T>G (p.Tyr433Ter) c.1326T>G (p.Tyr442Ter) c.729T>G (p.Tyr243Ter) c.1434T>G (p.Tyr478Ter) c.1407T>G (p.Tyr469Ter) | |
21 | g.37505456T= | CA2388503352 | DYRK1A | c.1413T= (p.Tyr471=) c.1386T= (p.Tyr462=) n.777T= c.1461T= (p.Tyr487=) n.828T= n.4131T= c.1299T= (p.Tyr433=) c.1326T= (p.Tyr442=) c.729T= (p.Tyr243=) c.1434T= (p.Tyr478=) c.1407T= (p.Tyr469=) | |
21 | g.37505457T>A | CA409938472 | DYRK1A | c.1414T>A (p.Tyr472Asn) c.1387T>A (p.Tyr463Asn) n.778T>A c.1462T>A (p.Tyr488Asn) n.829T>A n.4132T>A c.1300T>A (p.Tyr434Asn) c.1327T>A (p.Tyr443Asn) c.730T>A (p.Tyr244Asn) c.1435T>A (p.Tyr479Asn) c.1408T>A (p.Tyr470Asn) | |
21 | g.37505457T>C | CA409938473 | DYRK1A | c.1414T>C (p.Tyr472His) c.1387T>C (p.Tyr463His) n.778T>C c.1462T>C (p.Tyr488His) n.829T>C n.4132T>C c.1300T>C (p.Tyr434His) c.1327T>C (p.Tyr443His) c.730T>C (p.Tyr244His) c.1435T>C (p.Tyr479His) c.1408T>C (p.Tyr470His) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.37505457T>G | CA409938474 | DYRK1A | c.1414T>G (p.Tyr472Asp) c.1387T>G (p.Tyr463Asp) n.778T>G c.1462T>G (p.Tyr488Asp) n.829T>G n.4132T>G c.1300T>G (p.Tyr434Asp) c.1327T>G (p.Tyr443Asp) c.730T>G (p.Tyr244Asp) c.1435T>G (p.Tyr479Asp) c.1408T>G (p.Tyr470Asp) | |
21 | g.37505457T= | CA2388503353 | DYRK1A | c.1414T= (p.Tyr472=) c.1387T= (p.Tyr463=) n.778T= c.1462T= (p.Tyr488=) n.829T= n.4132T= c.1300T= (p.Tyr434=) c.1327T= (p.Tyr443=) c.730T= (p.Tyr244=) c.1435T= (p.Tyr479=) c.1408T= (p.Tyr470=) | |
21 | g.37505458A>C | CA409938477 | DYRK1A | c.1415A>C (p.Tyr472Ser) c.1388A>C (p.Tyr463Ser) n.779A>C c.1463A>C (p.Tyr488Ser) n.830A>C n.4133A>C c.1301A>C (p.Tyr434Ser) c.1328A>C (p.Tyr443Ser) c.731A>C (p.Tyr244Ser) c.1436A>C (p.Tyr479Ser) c.1409A>C (p.Tyr470Ser) | |
21 | g.37505458A>G | CA409938476 | DYRK1A | c.1415A>G (p.Tyr472Cys) c.1388A>G (p.Tyr463Cys) n.779A>G c.1463A>G (p.Tyr488Cys) n.830A>G n.4133A>G c.1301A>G (p.Tyr434Cys) c.1328A>G (p.Tyr443Cys) c.731A>G (p.Tyr244Cys) c.1436A>G (p.Tyr479Cys) c.1409A>G (p.Tyr470Cys) | |
21 | g.37505458A>T | CA409938475 | DYRK1A | c.1415A>T (p.Tyr472Phe) c.1388A>T (p.Tyr463Phe) n.779A>T c.1463A>T (p.Tyr488Phe) n.830A>T n.4133A>T c.1301A>T (p.Tyr434Phe) c.1328A>T (p.Tyr443Phe) c.731A>T (p.Tyr244Phe) c.1436A>T (p.Tyr479Phe) c.1409A>T (p.Tyr470Phe) | |
21 | g.37505459T>A | CA409938478 | DYRK1A | c.1416T>A (p.Tyr472Ter) c.1389T>A (p.Tyr463Ter) n.780T>A c.1464T>A (p.Tyr488Ter) n.831T>A n.4134T>A c.1302T>A (p.Tyr434Ter) c.1329T>A (p.Tyr443Ter) c.732T>A (p.Tyr244Ter) c.1437T>A (p.Tyr479Ter) c.1410T>A (p.Tyr470Ter) | |
21 | g.37505459T>C | CA10023975 | DYRK1A | c.1416T>C (p.Tyr472=) c.1389T>C (p.Tyr463=) n.780T>C c.1464T>C (p.Tyr488=) n.831T>C n.4134T>C c.1302T>C (p.Tyr434=) c.1329T>C (p.Tyr443=) c.732T>C (p.Tyr244=) c.1437T>C (p.Tyr479=) c.1410T>C (p.Tyr470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37505459T>G | CA409938479 | DYRK1A | c.1416T>G (p.Tyr472Ter) c.1389T>G (p.Tyr463Ter) n.780T>G c.1464T>G (p.Tyr488Ter) n.831T>G n.4134T>G c.1302T>G (p.Tyr434Ter) c.1329T>G (p.Tyr443Ter) c.732T>G (p.Tyr244Ter) c.1437T>G (p.Tyr479Ter) c.1410T>G (p.Tyr470Ter) | |
21 | g.37505459T= | CA2388503354 | DYRK1A | c.1416T= (p.Tyr472=) c.1389T= (p.Tyr463=) n.780T= c.1464T= (p.Tyr488=) n.831T= n.4134T= c.1302T= (p.Tyr434=) c.1329T= (p.Tyr443=) c.732T= (p.Tyr244=) c.1437T= (p.Tyr479=) c.1410T= (p.Tyr470=) | |
21 | g.37505460G>A | CA409938480 | DYRK1A | c.1417G>A (p.Ala473Thr) c.1390G>A (p.Ala464Thr) n.781G>A c.1465G>A (p.Ala489Thr) n.832G>A n.4135G>A c.1303G>A (p.Ala435Thr) c.1330G>A (p.Ala444Thr) c.733G>A (p.Ala245Thr) c.1438G>A (p.Ala480Thr) c.1411G>A (p.Ala471Thr) | |
21 | g.37505460G>C | CA409938481 | DYRK1A | c.1417G>C (p.Ala473Pro) c.1390G>C (p.Ala464Pro) n.781G>C c.1465G>C (p.Ala489Pro) n.832G>C n.4135G>C c.1303G>C (p.Ala435Pro) c.1330G>C (p.Ala444Pro) c.733G>C (p.Ala245Pro) c.1438G>C (p.Ala480Pro) c.1411G>C (p.Ala471Pro) | |
21 | g.37505460G>T | CA409938482 | DYRK1A | c.1417G>T (p.Ala473Ser) c.1390G>T (p.Ala464Ser) n.781G>T c.1465G>T (p.Ala489Ser) n.832G>T n.4135G>T c.1303G>T (p.Ala435Ser) c.1330G>T (p.Ala444Ser) c.733G>T (p.Ala245Ser) c.1438G>T (p.Ala480Ser) c.1411G>T (p.Ala471Ser) | |
21 | g.37505461C>A | CA409938483 | DYRK1A | c.1418C>A (p.Ala473Asp) c.1391C>A (p.Ala464Asp) n.782C>A c.1466C>A (p.Ala489Asp) n.833C>A n.4136C>A c.1304C>A (p.Ala435Asp) c.1331C>A (p.Ala444Asp) c.734C>A (p.Ala245Asp) c.1439C>A (p.Ala480Asp) c.1412C>A (p.Ala471Asp) | |
21 | g.37505461C>G | CA409938484 | DYRK1A | c.1418C>G (p.Ala473Gly) c.1391C>G (p.Ala464Gly) n.782C>G c.1466C>G (p.Ala489Gly) n.833C>G n.4136C>G c.1304C>G (p.Ala435Gly) c.1331C>G (p.Ala444Gly) c.734C>G (p.Ala245Gly) c.1439C>G (p.Ala480Gly) c.1412C>G (p.Ala471Gly) | |
21 | g.37505461C>T | CA409938485 | DYRK1A | c.1418C>T (p.Ala473Val) c.1391C>T (p.Ala464Val) n.782C>T c.1466C>T (p.Ala489Val) n.833C>T n.4136C>T c.1304C>T (p.Ala435Val) c.1331C>T (p.Ala444Val) c.734C>T (p.Ala245Val) c.1439C>T (p.Ala480Val) c.1412C>T (p.Ala471Val) | |
21 | g.37505462T>A | CA512327974 | DYRK1A | c.1419T>A (p.Ala473=) c.1392T>A (p.Ala464=) n.783T>A c.1467T>A (p.Ala489=) n.834T>A n.4137T>A c.1305T>A (p.Ala435=) c.1332T>A (p.Ala444=) c.735T>A (p.Ala245=) c.1440T>A (p.Ala480=) c.1413T>A (p.Ala471=) | |
21 | g.37505462T>C | CA512327975 | DYRK1A | c.1419T>C (p.Ala473=) c.1392T>C (p.Ala464=) n.783T>C c.1467T>C (p.Ala489=) n.834T>C n.4137T>C c.1305T>C (p.Ala435=) c.1332T>C (p.Ala444=) c.735T>C (p.Ala245=) c.1440T>C (p.Ala480=) c.1413T>C (p.Ala471=) | |
21 | g.37505462T>G | CA512327976 | DYRK1A | c.1419T>G (p.Ala473=) c.1392T>G (p.Ala464=) n.783T>G c.1467T>G (p.Ala489=) n.834T>G n.4137T>G c.1305T>G (p.Ala435=) c.1332T>G (p.Ala444=) c.735T>G (p.Ala245=) c.1440T>G (p.Ala480=) c.1413T>G (p.Ala471=) | |
21 | g.37505463C>A | CA409938486 | DYRK1A | c.1420C>A (p.Leu474Met) c.1393C>A (p.Leu465Met) n.784C>A c.1468C>A (p.Leu490Met) n.835C>A n.4138C>A c.1306C>A (p.Leu436Met) c.1333C>A (p.Leu445Met) c.736C>A (p.Leu246Met) c.1441C>A (p.Leu481Met) c.1414C>A (p.Leu472Met) | |
21 | g.37505463C= | CA2388503357 | DYRK1A | c.1420C= (p.Leu474=) c.1393C= (p.Leu465=) n.784C= c.1468C= (p.Leu490=) n.835C= n.4138C= c.1306C= (p.Leu436=) c.1333C= (p.Leu445=) c.736C= (p.Leu246=) c.1441C= (p.Leu481=) c.1414C= (p.Leu472=) | |
21 | g.37505463C>G | CA409938487 | DYRK1A | c.1420C>G (p.Leu474Val) c.1393C>G (p.Leu465Val) n.784C>G c.1468C>G (p.Leu490Val) n.835C>G n.4138C>G c.1306C>G (p.Leu436Val) c.1333C>G (p.Leu445Val) c.736C>G (p.Leu246Val) c.1441C>G (p.Leu481Val) c.1414C>G (p.Leu472Val) | dbSNP gnomAD v2 |
21 | g.37505463C>T | CA320464660 | DYRK1A | c.1420C>T (p.Leu474=) c.1393C>T (p.Leu465=) n.784C>T c.1468C>T (p.Leu490=) n.835C>T n.4138C>T c.1306C>T (p.Leu436=) c.1333C>T (p.Leu445=) c.736C>T (p.Leu246=) c.1441C>T (p.Leu481=) c.1414C>T (p.Leu472=) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.37505464T>A | CA409938488 | DYRK1A | c.1421T>A (p.Leu474Gln) c.1394T>A (p.Leu465Gln) n.785T>A c.1469T>A (p.Leu490Gln) n.836T>A n.4139T>A c.1307T>A (p.Leu436Gln) c.1334T>A (p.Leu445Gln) c.737T>A (p.Leu246Gln) c.1442T>A (p.Leu481Gln) c.1415T>A (p.Leu472Gln) | |
21 | g.37505464T>C | CA409938490 | DYRK1A | c.1421T>C (p.Leu474Pro) c.1394T>C (p.Leu465Pro) n.785T>C c.1469T>C (p.Leu490Pro) n.836T>C n.4139T>C c.1307T>C (p.Leu436Pro) c.1334T>C (p.Leu445Pro) c.737T>C (p.Leu246Pro) c.1442T>C (p.Leu481Pro) c.1415T>C (p.Leu472Pro) | |
21 | g.37505464T>G | CA409938489 | DYRK1A | c.1421T>G (p.Leu474Arg) c.1394T>G (p.Leu465Arg) n.785T>G c.1469T>G (p.Leu490Arg) n.836T>G n.4139T>G c.1307T>G (p.Leu436Arg) c.1334T>G (p.Leu445Arg) c.737T>G (p.Leu246Arg) c.1442T>G (p.Leu481Arg) c.1415T>G (p.Leu472Arg) | |
21 | g.37505465G>A | CA512327977 | DYRK1A | c.1422G>A (p.Leu474=) c.1395G>A (p.Leu465=) n.786G>A c.1470G>A (p.Leu490=) n.837G>A n.4140G>A c.1308G>A (p.Leu436=) c.1335G>A (p.Leu445=) c.738G>A (p.Leu246=) c.1443G>A (p.Leu481=) c.1416G>A (p.Leu472=) | |
21 | g.37505465G>C | CA512327978 | DYRK1A | c.1422G>C (p.Leu474=) c.1395G>C (p.Leu465=) n.786G>C c.1470G>C (p.Leu490=) n.837G>C n.4140G>C c.1308G>C (p.Leu436=) c.1335G>C (p.Leu445=) c.738G>C (p.Leu246=) c.1443G>C (p.Leu481=) c.1416G>C (p.Leu472=) | gnomAD v4 |
21 | g.37505465G>T | CA512327979 | DYRK1A | c.1422G>T (p.Leu474=) c.1395G>T (p.Leu465=) n.786G>T c.1470G>T (p.Leu490=) n.837G>T n.4140G>T c.1308G>T (p.Leu436=) c.1335G>T (p.Leu445=) c.738G>T (p.Leu246=) c.1443G>T (p.Leu481=) c.1416G>T (p.Leu472=) | |
21 | g.37505466C>A | CA409938491 | DYRK1A | c.1423C>A (p.Gln475Lys) c.1396C>A (p.Gln466Lys) n.787C>A c.1471C>A (p.Gln491Lys) n.838C>A n.4141C>A c.1309C>A (p.Gln437Lys) c.1336C>A (p.Gln446Lys) c.739C>A (p.Gln247Lys) c.1444C>A (p.Gln482Lys) c.1417C>A (p.Gln473Lys) | |
21 | g.37505466C= | CA2388503359 | DYRK1A | c.1423C= (p.Gln475=) c.1396C= (p.Gln466=) n.787C= c.1471C= (p.Gln491=) n.838C= n.4141C= c.1309C= (p.Gln437=) c.1336C= (p.Gln446=) c.739C= (p.Gln247=) c.1444C= (p.Gln482=) c.1417C= (p.Gln473=) | |
21 | g.37505466C>G | CA409938493 | DYRK1A | c.1423C>G (p.Gln475Glu) c.1396C>G (p.Gln466Glu) n.787C>G c.1471C>G (p.Gln491Glu) n.838C>G n.4141C>G c.1309C>G (p.Gln437Glu) c.1336C>G (p.Gln446Glu) c.739C>G (p.Gln247Glu) c.1444C>G (p.Gln482Glu) c.1417C>G (p.Gln473Glu) | |
21 | g.37505466C>T | CA409938492 | DYRK1A | c.1423C>T (p.Gln475Ter) c.1396C>T (p.Gln466Ter) n.787C>T c.1471C>T (p.Gln491Ter) n.838C>T n.4141C>T c.1309C>T (p.Gln437Ter) c.1336C>T (p.Gln446Ter) c.739C>T (p.Gln247Ter) c.1444C>T (p.Gln482Ter) c.1417C>T (p.Gln473Ter) | dbSNP |
21 | g.37505467A>C | CA409938494 | DYRK1A | c.1424A>C (p.Gln475Pro) c.1397A>C (p.Gln466Pro) n.788A>C c.1472A>C (p.Gln491Pro) n.839A>C n.4142A>C c.1310A>C (p.Gln437Pro) c.1337A>C (p.Gln446Pro) c.740A>C (p.Gln247Pro) c.1445A>C (p.Gln482Pro) c.1418A>C (p.Gln473Pro) | |
21 | g.37505467A>G | CA409938496 | DYRK1A | c.1424A>G (p.Gln475Arg) c.1397A>G (p.Gln466Arg) n.788A>G c.1472A>G (p.Gln491Arg) n.839A>G n.4142A>G c.1310A>G (p.Gln437Arg) c.1337A>G (p.Gln446Arg) c.740A>G (p.Gln247Arg) c.1445A>G (p.Gln482Arg) c.1418A>G (p.Gln473Arg) | |
21 | g.37505467A>T | CA409938495 | DYRK1A | c.1424A>T (p.Gln475Leu) c.1397A>T (p.Gln466Leu) n.788A>T c.1472A>T (p.Gln491Leu) n.839A>T n.4142A>T c.1310A>T (p.Gln437Leu) c.1337A>T (p.Gln446Leu) c.740A>T (p.Gln247Leu) c.1445A>T (p.Gln482Leu) c.1418A>T (p.Gln473Leu) | |
21 | g.37505468G>A | CA512327980 | DYRK1A | c.1425G>A (p.Gln475=) c.1398G>A (p.Gln466=) n.789G>A c.1473G>A (p.Gln491=) n.840G>A n.4143G>A c.1311G>A (p.Gln437=) c.1338G>A (p.Gln446=) c.741G>A (p.Gln247=) c.1446G>A (p.Gln482=) c.1419G>A (p.Gln473=) | |
21 | g.37505468G>C | CA409938497 | DYRK1A | c.1425G>C (p.Gln475His) c.1398G>C (p.Gln466His) n.789G>C c.1473G>C (p.Gln491His) n.840G>C n.4143G>C c.1311G>C (p.Gln437His) c.1338G>C (p.Gln446His) c.741G>C (p.Gln247His) c.1446G>C (p.Gln482His) c.1419G>C (p.Gln473His) | |
21 | g.37505468G>T | CA409938498 | DYRK1A | c.1425G>T (p.Gln475His) c.1398G>T (p.Gln466His) n.789G>T c.1473G>T (p.Gln491His) n.840G>T n.4143G>T c.1311G>T (p.Gln437His) c.1338G>T (p.Gln446His) c.741G>T (p.Gln247His) c.1446G>T (p.Gln482His) c.1419G>T (p.Gln473His) | |
21 | g.37505469C>A | CA409938499 | DYRK1A | c.1426C>A (p.His476Asn) c.1399C>A (p.His467Asn) n.790C>A c.1474C>A (p.His492Asn) n.841C>A n.4144C>A c.1312C>A (p.His438Asn) c.1339C>A (p.His447Asn) c.742C>A (p.His248Asn) c.1447C>A (p.His483Asn) c.1420C>A (p.His474Asn) | |
21 | g.37505469C>G | CA409938500 | DYRK1A | c.1426C>G (p.His476Asp) c.1399C>G (p.His467Asp) n.790C>G c.1474C>G (p.His492Asp) n.841C>G n.4144C>G c.1312C>G (p.His438Asp) c.1339C>G (p.His447Asp) c.742C>G (p.His248Asp) c.1447C>G (p.His483Asp) c.1420C>G (p.His474Asp) | |
21 | g.37505469C>T | CA409938501 | DYRK1A | c.1426C>T (p.His476Tyr) c.1399C>T (p.His467Tyr) n.790C>T c.1474C>T (p.His492Tyr) n.841C>T n.4144C>T c.1312C>T (p.His438Tyr) c.1339C>T (p.His447Tyr) c.742C>T (p.His248Tyr) c.1447C>T (p.His483Tyr) c.1420C>T (p.His474Tyr) | |
21 | g.37505470A>C | CA409938502 | DYRK1A | c.1427A>C (p.His476Pro) c.1400A>C (p.His467Pro) n.791A>C c.1475A>C (p.His492Pro) n.842A>C n.4145A>C c.1313A>C (p.His438Pro) c.1340A>C (p.His447Pro) c.743A>C (p.His248Pro) c.1448A>C (p.His483Pro) c.1421A>C (p.His474Pro) | |
21 | g.37505470A>G | CA409938503 | DYRK1A | c.1427A>G (p.His476Arg) c.1400A>G (p.His467Arg) n.791A>G c.1475A>G (p.His492Arg) n.842A>G n.4145A>G c.1313A>G (p.His438Arg) c.1340A>G (p.His447Arg) c.743A>G (p.His248Arg) c.1448A>G (p.His483Arg) c.1421A>G (p.His474Arg) | |
21 | g.37505470A>T | CA409938504 | DYRK1A | c.1427A>T (p.His476Leu) c.1400A>T (p.His467Leu) n.791A>T c.1475A>T (p.His492Leu) n.842A>T n.4145A>T c.1313A>T (p.His438Leu) c.1340A>T (p.His447Leu) c.743A>T (p.His248Leu) c.1448A>T (p.His483Leu) c.1421A>T (p.His474Leu) | |
21 | g.37505471C>A | CA409938505 | DYRK1A | c.1428C>A (p.His476Gln) c.1401C>A (p.His467Gln) n.792C>A c.1476C>A (p.His492Gln) n.843C>A n.4146C>A c.1314C>A (p.His438Gln) c.1341C>A (p.His447Gln) c.744C>A (p.His248Gln) c.1449C>A (p.His483Gln) c.1422C>A (p.His474Gln) | |
21 | g.37505471C= | CA2388503360 | DYRK1A | c.1428C= (p.His476=) c.1401C= (p.His467=) n.792C= c.1476C= (p.His492=) n.843C= n.4146C= c.1314C= (p.His438=) c.1341C= (p.His447=) c.744C= (p.His248=) c.1449C= (p.His483=) c.1422C= (p.His474=) | |
21 | g.37505471C>G | CA409938506 | DYRK1A | c.1428C>G (p.His476Gln) c.1401C>G (p.His467Gln) n.792C>G c.1476C>G (p.His492Gln) n.843C>G n.4146C>G c.1314C>G (p.His438Gln) c.1341C>G (p.His447Gln) c.744C>G (p.His248Gln) c.1449C>G (p.His483Gln) c.1422C>G (p.His474Gln) | |
21 | g.37505471C>T | CA16608061 | DYRK1A | c.1428C>T (p.His476=) c.1401C>T (p.His467=) n.792C>T c.1476C>T (p.His492=) n.843C>T n.4146C>T c.1314C>T (p.His438=) c.1341C>T (p.His447=) c.744C>T (p.His248=) c.1449C>T (p.His483=) c.1422C>T (p.His474=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.37505472A>C | CA409938507 | DYRK1A | c.1429A>C (p.Ser477Arg) c.1402A>C (p.Ser468Arg) n.793A>C c.1477A>C (p.Ser493Arg) n.844A>C n.4147A>C c.1315A>C (p.Ser439Arg) c.1342A>C (p.Ser448Arg) c.745A>C (p.Ser249Arg) c.1450A>C (p.Ser484Arg) c.1423A>C (p.Ser475Arg) | |
21 | g.37505472A>G | CA409938508 | DYRK1A | c.1429A>G (p.Ser477Gly) c.1402A>G (p.Ser468Gly) n.793A>G c.1477A>G (p.Ser493Gly) n.844A>G n.4147A>G c.1315A>G (p.Ser439Gly) c.1342A>G (p.Ser448Gly) c.745A>G (p.Ser249Gly) c.1450A>G (p.Ser484Gly) c.1423A>G (p.Ser475Gly) | |
21 | g.37505472A>T | CA409938509 | DYRK1A | c.1429A>T (p.Ser477Cys) c.1402A>T (p.Ser468Cys) n.793A>T c.1477A>T (p.Ser493Cys) n.844A>T n.4147A>T c.1315A>T (p.Ser439Cys) c.1342A>T (p.Ser448Cys) c.745A>T (p.Ser249Cys) c.1450A>T (p.Ser484Cys) c.1423A>T (p.Ser475Cys) | |
21 | g.37505473G>A | CA409938511 | DYRK1A | c.1430G>A (p.Ser477Asn) c.1403G>A (p.Ser468Asn) n.794G>A c.1478G>A (p.Ser493Asn) n.845G>A n.4148G>A c.1316G>A (p.Ser439Asn) c.1343G>A (p.Ser448Asn) c.746G>A (p.Ser249Asn) c.1451G>A (p.Ser484Asn) c.1424G>A (p.Ser475Asn) | |
21 | g.37505473G>C | CA320464662 | DYRK1A | c.1430G>C (p.Ser477Thr) c.1403G>C (p.Ser468Thr) n.794G>C c.1478G>C (p.Ser493Thr) n.845G>C n.4148G>C c.1316G>C (p.Ser439Thr) c.1343G>C (p.Ser448Thr) c.746G>C (p.Ser249Thr) c.1451G>C (p.Ser484Thr) c.1424G>C (p.Ser475Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.37505473G= | CA2388503362 | DYRK1A | c.1430G= (p.Ser477=) c.1403G= (p.Ser468=) n.794G= c.1478G= (p.Ser493=) n.845G= n.4148G= c.1316G= (p.Ser439=) c.1343G= (p.Ser448=) c.746G= (p.Ser249=) c.1451G= (p.Ser484=) c.1424G= (p.Ser475=) | |
21 | g.37505473G>T | CA409938510 | DYRK1A | c.1430G>T (p.Ser477Ile) c.1403G>T (p.Ser468Ile) n.794G>T c.1478G>T (p.Ser493Ile) n.845G>T n.4148G>T c.1316G>T (p.Ser439Ile) c.1343G>T (p.Ser448Ile) c.746G>T (p.Ser249Ile) c.1451G>T (p.Ser484Ile) c.1424G>T (p.Ser475Ile) | |
21 | g.37505474T>A | CA409938512 | DYRK1A | c.1431T>A (p.Ser477Arg) c.1404T>A (p.Ser468Arg) n.795T>A c.1479T>A (p.Ser493Arg) n.846T>A n.4149T>A c.1317T>A (p.Ser439Arg) c.1344T>A (p.Ser448Arg) c.747T>A (p.Ser249Arg) c.1452T>A (p.Ser484Arg) c.1425T>A (p.Ser475Arg) | |
21 | g.37505474T>C | CA512327981 | DYRK1A | c.1431T>C (p.Ser477=) c.1404T>C (p.Ser468=) n.795T>C c.1479T>C (p.Ser493=) n.846T>C n.4149T>C c.1317T>C (p.Ser439=) c.1344T>C (p.Ser448=) c.747T>C (p.Ser249=) c.1452T>C (p.Ser484=) c.1425T>C (p.Ser475=) | |
21 | g.37505474T>G | CA409938513 | DYRK1A | c.1431T>G (p.Ser477Arg) c.1404T>G (p.Ser468Arg) n.795T>G c.1479T>G (p.Ser493Arg) n.846T>G n.4149T>G c.1317T>G (p.Ser439Arg) c.1344T>G (p.Ser448Arg) c.747T>G (p.Ser249Arg) c.1452T>G (p.Ser484Arg) c.1425T>G (p.Ser475Arg) | |
21 | g.37505476del | CA2695223220 | DYRK1A | c.1433del (p.Phe478SerfsTer?) c.1406del (p.Phe469SerfsTer?) c.1481del (p.Phe494SerfsTer?) n.848del n.4151del c.1319del (p.Phe440SerfsTer?) c.1346del (p.Phe449SerfsTer?) c.749del (p.Phe250SerfsTer?) c.1454del (p.Phe485SerfsTer?) c.1427del (p.Phe476SerfsTer?) | |
21 | g.37505475T>A | CA409938514 | DYRK1A | c.1432T>A (p.Phe478Ile) c.1405T>A (p.Phe469Ile) n.796T>A c.1480T>A (p.Phe494Ile) n.847T>A n.4150T>A c.1318T>A (p.Phe440Ile) c.1345T>A (p.Phe449Ile) c.748T>A (p.Phe250Ile) c.1453T>A (p.Phe485Ile) c.1426T>A (p.Phe476Ile) | |
21 | g.37505475T>C | CA409938515 | DYRK1A | c.1432T>C (p.Phe478Leu) c.1405T>C (p.Phe469Leu) n.796T>C c.1480T>C (p.Phe494Leu) n.847T>C n.4150T>C c.1318T>C (p.Phe440Leu) c.1345T>C (p.Phe449Leu) c.748T>C (p.Phe250Leu) c.1453T>C (p.Phe485Leu) c.1426T>C (p.Phe476Leu) | |
21 | g.37505475T>G | CA409938516 | DYRK1A | c.1432T>G (p.Phe478Val) c.1405T>G (p.Phe469Val) n.796T>G c.1480T>G (p.Phe494Val) n.847T>G n.4150T>G c.1318T>G (p.Phe440Val) c.1345T>G (p.Phe449Val) c.748T>G (p.Phe250Val) c.1453T>G (p.Phe485Val) c.1426T>G (p.Phe476Val) | |
21 | g.37505476T>A | CA409938517 | DYRK1A | c.1433T>A (p.Phe478Tyr) c.1406T>A (p.Phe469Tyr) c.1481T>A (p.Phe494Tyr) n.848T>A n.4151T>A c.1319T>A (p.Phe440Tyr) c.1346T>A (p.Phe449Tyr) c.749T>A (p.Phe250Tyr) c.1454T>A (p.Phe485Tyr) c.1427T>A (p.Phe476Tyr) | |
21 | g.37505476T>C | CA320464667 | DYRK1A | c.1433T>C (p.Phe478Ser) c.1406T>C (p.Phe469Ser) c.1481T>C (p.Phe494Ser) n.848T>C n.4151T>C c.1319T>C (p.Phe440Ser) c.1346T>C (p.Phe449Ser) c.749T>C (p.Phe250Ser) c.1454T>C (p.Phe485Ser) c.1427T>C (p.Phe476Ser) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.37505476T>G | CA409938518 | DYRK1A | c.1433T>G (p.Phe478Cys) c.1406T>G (p.Phe469Cys) c.1481T>G (p.Phe494Cys) n.848T>G n.4151T>G c.1319T>G (p.Phe440Cys) c.1346T>G (p.Phe449Cys) c.749T>G (p.Phe250Cys) c.1454T>G (p.Phe485Cys) c.1427T>G (p.Phe476Cys) | |
21 | g.37505476T= | CA2388503364 | DYRK1A | c.1433T= (p.Phe478=) c.1406T= (p.Phe469=) c.1481T= (p.Phe494=) n.848T= n.4151T= c.1319T= (p.Phe440=) c.1346T= (p.Phe449=) c.749T= (p.Phe250=) c.1454T= (p.Phe485=) c.1427T= (p.Phe476=) | |
21 | g.37505477C>A | CA409938519 | DYRK1A | c.1434C>A (p.Phe478Leu) c.1407C>A (p.Phe469Leu) c.1482C>A (p.Phe494Leu) n.849C>A n.4152C>A c.1320C>A (p.Phe440Leu) c.1347C>A (p.Phe449Leu) c.750C>A (p.Phe250Leu) c.1455C>A (p.Phe485Leu) c.1428C>A (p.Phe476Leu) | |
21 | g.37505477C>G | CA409938520 | DYRK1A | c.1434C>G (p.Phe478Leu) c.1407C>G (p.Phe469Leu) c.1482C>G (p.Phe494Leu) n.849C>G n.4152C>G c.1320C>G (p.Phe440Leu) c.1347C>G (p.Phe449Leu) c.750C>G (p.Phe250Leu) c.1455C>G (p.Phe485Leu) c.1428C>G (p.Phe476Leu) | |
21 | g.37505477C>T | CA512327982 | DYRK1A | c.1434C>T (p.Phe478=) c.1407C>T (p.Phe469=) c.1482C>T (p.Phe494=) n.849C>T n.4152C>T c.1320C>T (p.Phe440=) c.1347C>T (p.Phe449=) c.750C>T (p.Phe250=) c.1455C>T (p.Phe485=) c.1428C>T (p.Phe476=) | |
21 | g.37505478T>A | CA409938521 | DYRK1A | c.1435T>A (p.Phe479Ile) c.1408T>A (p.Phe470Ile) c.1483T>A (p.Phe495Ile) n.850T>A n.4153T>A c.1321T>A (p.Phe441Ile) c.1348T>A (p.Phe450Ile) c.751T>A (p.Phe251Ile) c.1456T>A (p.Phe486Ile) c.1429T>A (p.Phe477Ile) | |
21 | g.37505478T>C | CA409938522 | DYRK1A | c.1435T>C (p.Phe479Leu) c.1408T>C (p.Phe470Leu) c.1483T>C (p.Phe495Leu) n.850T>C n.4153T>C c.1321T>C (p.Phe441Leu) c.1348T>C (p.Phe450Leu) c.751T>C (p.Phe251Leu) c.1456T>C (p.Phe486Leu) c.1429T>C (p.Phe477Leu) | |
21 | g.37505478T>G | CA409938523 | DYRK1A | c.1435T>G (p.Phe479Val) c.1408T>G (p.Phe470Val) c.1483T>G (p.Phe495Val) n.850T>G n.4153T>G c.1321T>G (p.Phe441Val) c.1348T>G (p.Phe450Val) c.751T>G (p.Phe251Val) c.1456T>G (p.Phe486Val) c.1429T>G (p.Phe477Val) | |
21 | g.37505479T>A | CA409938525 | DYRK1A | c.1436T>A (p.Phe479Tyr) c.1409T>A (p.Phe470Tyr) c.1484T>A (p.Phe495Tyr) n.851T>A n.4154T>A c.1322T>A (p.Phe441Tyr) c.1349T>A (p.Phe450Tyr) c.752T>A (p.Phe251Tyr) c.1457T>A (p.Phe486Tyr) c.1430T>A (p.Phe477Tyr) | |
21 | g.37505479T>C | CA409938526 | DYRK1A | c.1436T>C (p.Phe479Ser) c.1409T>C (p.Phe470Ser) c.1484T>C (p.Phe495Ser) n.851T>C n.4154T>C c.1322T>C (p.Phe441Ser) c.1349T>C (p.Phe450Ser) c.752T>C (p.Phe251Ser) c.1457T>C (p.Phe486Ser) c.1430T>C (p.Phe477Ser) | |
21 | g.37505479T>G | CA409938524 | DYRK1A | c.1436T>G (p.Phe479Cys) c.1409T>G (p.Phe470Cys) c.1484T>G (p.Phe495Cys) n.851T>G n.4154T>G c.1322T>G (p.Phe441Cys) c.1349T>G (p.Phe450Cys) c.752T>G (p.Phe251Cys) c.1457T>G (p.Phe486Cys) c.1430T>G (p.Phe477Cys) | |
21 | g.37505480C>A | CA409938527 | DYRK1A | c.1437C>A (p.Phe479Leu) c.1410C>A (p.Phe470Leu) c.1485C>A (p.Phe495Leu) n.852C>A n.4155C>A c.1323C>A (p.Phe441Leu) c.1350C>A (p.Phe450Leu) c.753C>A (p.Phe251Leu) c.1458C>A (p.Phe486Leu) c.1431C>A (p.Phe477Leu) | |
21 | g.37505480C>G | CA409938528 | DYRK1A | c.1437C>G (p.Phe479Leu) c.1410C>G (p.Phe470Leu) c.1485C>G (p.Phe495Leu) n.852C>G n.4155C>G c.1323C>G (p.Phe441Leu) c.1350C>G (p.Phe450Leu) c.753C>G (p.Phe251Leu) c.1458C>G (p.Phe486Leu) c.1431C>G (p.Phe477Leu) | |
21 | g.37505480C>T | CA512327983 | DYRK1A | c.1437C>T (p.Phe479=) c.1410C>T (p.Phe470=) c.1485C>T (p.Phe495=) n.852C>T n.4155C>T c.1323C>T (p.Phe441=) c.1350C>T (p.Phe450=) c.753C>T (p.Phe251=) c.1458C>T (p.Phe486=) c.1431C>T (p.Phe477=) | |
21 | g.37505481A= | CA2388503366 | DYRK1A | c.1438A= (p.Lys480=) c.1411A= (p.Lys471=) c.1486A= (p.Lys496=) n.853A= n.4156A= c.1324A= (p.Lys442=) c.1351A= (p.Lys451=) c.754A= (p.Lys252=) c.1459A= (p.Lys487=) c.1432A= (p.Lys478=) | |
21 | g.37505481A>C | CA409938529 | DYRK1A | c.1438A>C (p.Lys480Gln) c.1411A>C (p.Lys471Gln) c.1486A>C (p.Lys496Gln) n.853A>C n.4156A>C c.1324A>C (p.Lys442Gln) c.1351A>C (p.Lys451Gln) c.754A>C (p.Lys252Gln) c.1459A>C (p.Lys487Gln) c.1432A>C (p.Lys478Gln) | |
21 | g.37505481A>G | CA409938530 | DYRK1A | c.1438A>G (p.Lys480Glu) c.1411A>G (p.Lys471Glu) c.1486A>G (p.Lys496Glu) n.853A>G n.4156A>G c.1324A>G (p.Lys442Glu) c.1351A>G (p.Lys451Glu) c.754A>G (p.Lys252Glu) c.1459A>G (p.Lys487Glu) c.1432A>G (p.Lys478Glu) | |
21 | g.37505481A>T | CA409938531 | DYRK1A | c.1438A>T (p.Lys480Ter) c.1411A>T (p.Lys471Ter) c.1486A>T (p.Lys496Ter) n.853A>T n.4156A>T c.1324A>T (p.Lys442Ter) c.1351A>T (p.Lys451Ter) c.754A>T (p.Lys252Ter) c.1459A>T (p.Lys487Ter) c.1432A>T (p.Lys478Ter) | dbSNP |
21 | g.37505482A>C | CA409938532 | DYRK1A | c.1439A>C (p.Lys480Thr) c.1412A>C (p.Lys471Thr) c.1487A>C (p.Lys496Thr) n.854A>C n.4157A>C c.1325A>C (p.Lys442Thr) c.1352A>C (p.Lys451Thr) c.755A>C (p.Lys252Thr) c.1460A>C (p.Lys487Thr) c.1433A>C (p.Lys478Thr) | |
21 | g.37505482A>G | CA409938533 | DYRK1A | c.1439A>G (p.Lys480Arg) c.1412A>G (p.Lys471Arg) c.1487A>G (p.Lys496Arg) n.854A>G n.4157A>G c.1325A>G (p.Lys442Arg) c.1352A>G (p.Lys451Arg) c.755A>G (p.Lys252Arg) c.1460A>G (p.Lys487Arg) c.1433A>G (p.Lys478Arg) | ClinVar gnomAD v4 |
21 | g.37505482A>T | CA409938534 | DYRK1A | c.1439A>T (p.Lys480Met) c.1412A>T (p.Lys471Met) c.1487A>T (p.Lys496Met) n.854A>T n.4157A>T c.1325A>T (p.Lys442Met) c.1352A>T (p.Lys451Met) c.755A>T (p.Lys252Met) c.1460A>T (p.Lys487Met) c.1433A>T (p.Lys478Met) | |
21 | g.37505483G>A | CA512327984 | DYRK1A | c.1440G>A (p.Lys480=) c.1413G>A (p.Lys471=) c.1488G>A (p.Lys496=) n.855G>A n.4158G>A c.1326G>A (p.Lys442=) c.1353G>A (p.Lys451=) c.756G>A (p.Lys252=) c.1461G>A (p.Lys487=) c.1434G>A (p.Lys478=) | |
21 | g.37505483G>C | CA409938535 | DYRK1A | c.1440G>C (p.Lys480Asn) c.1413G>C (p.Lys471Asn) c.1488G>C (p.Lys496Asn) n.855G>C n.4158G>C c.1326G>C (p.Lys442Asn) c.1353G>C (p.Lys451Asn) c.756G>C (p.Lys252Asn) c.1461G>C (p.Lys487Asn) c.1434G>C (p.Lys478Asn) | |
21 | g.37505483G>T | CA409938536 | DYRK1A | c.1440G>T (p.Lys480Asn) c.1413G>T (p.Lys471Asn) c.1488G>T (p.Lys496Asn) n.855G>T n.4158G>T c.1326G>T (p.Lys442Asn) c.1353G>T (p.Lys451Asn) c.756G>T (p.Lys252Asn) c.1461G>T (p.Lys487Asn) c.1434G>T (p.Lys478Asn) | |
21 | g.37505484A= | CA2388503368 | DYRK1A | c.1441A= (p.Lys481=) c.1414A= (p.Lys472=) c.1489A= (p.Lys497=) n.856A= n.4159A= c.1327A= (p.Lys443=) c.1354A= (p.Lys452=) c.757A= (p.Lys253=) c.1462A= (p.Lys488=) c.1435A= (p.Lys479=) | |
21 | g.37505484A>C | CA409938537 | DYRK1A | c.1441A>C (p.Lys481Gln) c.1414A>C (p.Lys472Gln) c.1489A>C (p.Lys497Gln) n.856A>C n.4159A>C c.1327A>C (p.Lys443Gln) c.1354A>C (p.Lys452Gln) c.757A>C (p.Lys253Gln) c.1462A>C (p.Lys488Gln) c.1435A>C (p.Lys479Gln) | |
21 | g.37505484A>G | CA409938538 | DYRK1A | c.1441A>G (p.Lys481Glu) c.1414A>G (p.Lys472Glu) c.1489A>G (p.Lys497Glu) n.856A>G n.4159A>G c.1327A>G (p.Lys443Glu) c.1354A>G (p.Lys452Glu) c.757A>G (p.Lys253Glu) c.1462A>G (p.Lys488Glu) c.1435A>G (p.Lys479Glu) | |
21 | g.37505484A>T | CA409938539 | DYRK1A | c.1441A>T (p.Lys481Ter) c.1414A>T (p.Lys472Ter) c.1489A>T (p.Lys497Ter) n.856A>T n.4159A>T c.1327A>T (p.Lys443Ter) c.1354A>T (p.Lys452Ter) c.757A>T (p.Lys253Ter) c.1462A>T (p.Lys488Ter) c.1435A>T (p.Lys479Ter) | dbSNP |
21 | g.37505485A>C | CA409938540 | DYRK1A | c.1442A>C (p.Lys481Thr) c.1415A>C (p.Lys472Thr) c.1490A>C (p.Lys497Thr) n.857A>C n.4160A>C c.1328A>C (p.Lys443Thr) c.1355A>C (p.Lys452Thr) c.758A>C (p.Lys253Thr) c.1463A>C (p.Lys488Thr) c.1436A>C (p.Lys479Thr) | |
21 | g.37505485A>G | CA409938542 | DYRK1A | c.1442A>G (p.Lys481Arg) c.1415A>G (p.Lys472Arg) c.1490A>G (p.Lys497Arg) n.857A>G n.4160A>G c.1328A>G (p.Lys443Arg) c.1355A>G (p.Lys452Arg) c.758A>G (p.Lys253Arg) c.1463A>G (p.Lys488Arg) c.1436A>G (p.Lys479Arg) | |
21 | g.37505485A>T | CA409938541 | DYRK1A | c.1442A>T (p.Lys481Ile) c.1415A>T (p.Lys472Ile) c.1490A>T (p.Lys497Ile) n.857A>T n.4160A>T c.1328A>T (p.Lys443Ile) c.1355A>T (p.Lys452Ile) c.758A>T (p.Lys253Ile) c.1463A>T (p.Lys488Ile) c.1436A>T (p.Lys479Ile) | |
21 | g.37505486A= | CA2388503370 | DYRK1A | c.1443A= (p.Lys481=) c.1416A= (p.Lys472=) c.1491A= (p.Lys497=) n.858A= n.4161A= c.1329A= (p.Lys443=) c.1356A= (p.Lys452=) c.759A= (p.Lys253=) c.1464A= (p.Lys488=) c.1437A= (p.Lys479=) | |
21 | g.37505486A>C | CA409938543 | DYRK1A | c.1443A>C (p.Lys481Asn) c.1416A>C (p.Lys472Asn) c.1491A>C (p.Lys497Asn) n.858A>C n.4161A>C c.1329A>C (p.Lys443Asn) c.1356A>C (p.Lys452Asn) c.759A>C (p.Lys253Asn) c.1464A>C (p.Lys488Asn) c.1437A>C (p.Lys479Asn) | |
21 | g.37505486A>G | CA10023976 | DYRK1A | c.1443A>G (p.Lys481=) c.1416A>G (p.Lys472=) c.1491A>G (p.Lys497=) n.858A>G n.4161A>G c.1329A>G (p.Lys443=) c.1356A>G (p.Lys452=) c.759A>G (p.Lys253=) c.1464A>G (p.Lys488=) c.1437A>G (p.Lys479=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37505486A>T | CA409938544 | DYRK1A | c.1443A>T (p.Lys481Asn) c.1416A>T (p.Lys472Asn) c.1491A>T (p.Lys497Asn) n.858A>T n.4161A>T c.1329A>T (p.Lys443Asn) c.1356A>T (p.Lys452Asn) c.759A>T (p.Lys253Asn) c.1464A>T (p.Lys488Asn) c.1437A>T (p.Lys479Asn) | |
21 | g.37505487A>C | CA409938545 | DYRK1A | c.1444A>C (p.Thr482Pro) c.1417A>C (p.Thr473Pro) c.1492A>C (p.Thr498Pro) n.859A>C n.4162A>C c.1330A>C (p.Thr444Pro) c.1357A>C (p.Thr453Pro) c.760A>C (p.Thr254Pro) c.1465A>C (p.Thr489Pro) c.1438A>C (p.Thr480Pro) | |
21 | g.37505487A>G | CA409938546 | DYRK1A | c.1444A>G (p.Thr482Ala) c.1417A>G (p.Thr473Ala) c.1492A>G (p.Thr498Ala) n.859A>G n.4162A>G c.1330A>G (p.Thr444Ala) c.1357A>G (p.Thr453Ala) c.760A>G (p.Thr254Ala) c.1465A>G (p.Thr489Ala) c.1438A>G (p.Thr480Ala) | |
21 | g.37505487A>T | CA409938547 | DYRK1A | c.1444A>T (p.Thr482Ser) c.1417A>T (p.Thr473Ser) c.1492A>T (p.Thr498Ser) n.859A>T n.4162A>T c.1330A>T (p.Thr444Ser) c.1357A>T (p.Thr453Ser) c.760A>T (p.Thr254Ser) c.1465A>T (p.Thr489Ser) c.1438A>T (p.Thr480Ser) | |
21 | g.37505488C>A | CA409938548 | DYRK1A | c.1445C>A (p.Thr482Lys) c.1418C>A (p.Thr473Lys) c.1493C>A (p.Thr498Lys) n.860C>A n.4163C>A c.1331C>A (p.Thr444Lys) c.1358C>A (p.Thr453Lys) c.761C>A (p.Thr254Lys) c.1466C>A (p.Thr489Lys) c.1439C>A (p.Thr480Lys) | |
21 | g.37505488C>G | CA409938549 | DYRK1A | c.1445C>G (p.Thr482Arg) c.1418C>G (p.Thr473Arg) c.1493C>G (p.Thr498Arg) n.860C>G n.4163C>G c.1331C>G (p.Thr444Arg) c.1358C>G (p.Thr453Arg) c.761C>G (p.Thr254Arg) c.1466C>G (p.Thr489Arg) c.1439C>G (p.Thr480Arg) | |
21 | g.37505488C>T | CA409938550 | DYRK1A | c.1445C>T (p.Thr482Ile) c.1418C>T (p.Thr473Ile) c.1493C>T (p.Thr498Ile) n.860C>T n.4163C>T c.1331C>T (p.Thr444Ile) c.1358C>T (p.Thr453Ile) c.761C>T (p.Thr254Ile) c.1466C>T (p.Thr489Ile) c.1439C>T (p.Thr480Ile) | |
21 | g.37505489A= | CA2388503372 | DYRK1A | c.1446A= (p.Thr482=) c.1419A= (p.Thr473=) c.1494A= (p.Thr498=) n.861A= n.4164A= c.1332A= (p.Thr444=) c.1359A= (p.Thr453=) c.762A= (p.Thr254=) c.1467A= (p.Thr489=) c.1440A= (p.Thr480=) | |
21 | g.37505489A>C | CA512327985 | DYRK1A | c.1446A>C (p.Thr482=) c.1419A>C (p.Thr473=) c.1494A>C (p.Thr498=) n.861A>C n.4164A>C c.1332A>C (p.Thr444=) c.1359A>C (p.Thr453=) c.762A>C (p.Thr254=) c.1467A>C (p.Thr489=) c.1440A>C (p.Thr480=) | |
21 | g.37505489A>G | CA512327986 | DYRK1A | c.1446A>G (p.Thr482=) c.1419A>G (p.Thr473=) c.1494A>G (p.Thr498=) n.861A>G n.4164A>G c.1332A>G (p.Thr444=) c.1359A>G (p.Thr453=) c.762A>G (p.Thr254=) c.1467A>G (p.Thr489=) c.1440A>G (p.Thr480=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37505489A>T | CA512327987 | DYRK1A | c.1446A>T (p.Thr482=) c.1419A>T (p.Thr473=) c.1494A>T (p.Thr498=) n.861A>T n.4164A>T c.1332A>T (p.Thr444=) c.1359A>T (p.Thr453=) c.762A>T (p.Thr254=) c.1467A>T (p.Thr489=) c.1440A>T (p.Thr480=) | |
21 | g.37505490G>A | CA409938553 | DYRK1A | c.1447G>A (p.Ala483Thr) c.1420G>A (p.Ala474Thr) c.1495G>A (p.Ala499Thr) n.862G>A n.4165G>A c.1333G>A (p.Ala445Thr) c.1360G>A (p.Ala454Thr) c.763G>A (p.Ala255Thr) c.1468G>A (p.Ala490Thr) c.1441G>A (p.Ala481Thr) | |
21 | g.37505490G>C | CA409938552 | DYRK1A | c.1447G>C (p.Ala483Pro) c.1420G>C (p.Ala474Pro) c.1495G>C (p.Ala499Pro) n.862G>C n.4165G>C c.1333G>C (p.Ala445Pro) c.1360G>C (p.Ala454Pro) c.763G>C (p.Ala255Pro) c.1468G>C (p.Ala490Pro) c.1441G>C (p.Ala481Pro) | |
21 | g.37505490G>T | CA409938551 | DYRK1A | c.1447G>T (p.Ala483Ser) c.1420G>T (p.Ala474Ser) c.1495G>T (p.Ala499Ser) n.862G>T n.4165G>T c.1333G>T (p.Ala445Ser) c.1360G>T (p.Ala454Ser) c.763G>T (p.Ala255Ser) c.1468G>T (p.Ala490Ser) c.1441G>T (p.Ala481Ser) | |
21 | g.37505491C>A | CA409938554 | DYRK1A | c.1448C>A (p.Ala483Asp) c.1421C>A (p.Ala474Asp) c.1496C>A (p.Ala499Asp) n.863C>A n.4166C>A c.1334C>A (p.Ala445Asp) c.1361C>A (p.Ala454Asp) c.764C>A (p.Ala255Asp) c.1469C>A (p.Ala490Asp) c.1442C>A (p.Ala481Asp) | |
21 | g.37505491C>G | CA409938556 | DYRK1A | c.1448C>G (p.Ala483Gly) c.1421C>G (p.Ala474Gly) c.1496C>G (p.Ala499Gly) n.863C>G n.4166C>G c.1334C>G (p.Ala445Gly) c.1361C>G (p.Ala454Gly) c.764C>G (p.Ala255Gly) c.1469C>G (p.Ala490Gly) c.1442C>G (p.Ala481Gly) | |
21 | g.37505491C>T | CA409938555 | DYRK1A | c.1448C>T (p.Ala483Val) c.1421C>T (p.Ala474Val) c.1496C>T (p.Ala499Val) n.863C>T n.4166C>T c.1334C>T (p.Ala445Val) c.1361C>T (p.Ala454Val) c.764C>T (p.Ala255Val) c.1469C>T (p.Ala490Val) c.1442C>T (p.Ala481Val) | |
21 | g.37505492T>A | CA512327988 | DYRK1A | c.1449T>A (p.Ala483=) c.1422T>A (p.Ala474=) c.1497T>A (p.Ala499=) n.864T>A n.4167T>A c.1335T>A (p.Ala445=) c.1362T>A (p.Ala454=) c.765T>A (p.Ala255=) c.1470T>A (p.Ala490=) c.1443T>A (p.Ala481=) | gnomAD v4 |
21 | g.37505492T>C | CA512327990 | DYRK1A | c.1449T>C (p.Ala483=) c.1422T>C (p.Ala474=) c.1497T>C (p.Ala499=) n.864T>C n.4167T>C c.1335T>C (p.Ala445=) c.1362T>C (p.Ala454=) c.765T>C (p.Ala255=) c.1470T>C (p.Ala490=) c.1443T>C (p.Ala481=) | |
21 | g.37505492T>G | CA512327989 | DYRK1A | c.1449T>G (p.Ala483=) c.1422T>G (p.Ala474=) c.1497T>G (p.Ala499=) n.864T>G n.4167T>G c.1335T>G (p.Ala445=) c.1362T>G (p.Ala454=) c.765T>G (p.Ala255=) c.1470T>G (p.Ala490=) c.1443T>G (p.Ala481=) | |
21 | g.37505493G>A | CA409938557 | DYRK1A | c.1450G>A (p.Asp484Asn) c.1423G>A (p.Asp475Asn) c.1498G>A (p.Asp500Asn) n.865G>A n.4168G>A c.1336G>A (p.Asp446Asn) c.1363G>A (p.Asp455Asn) c.766G>A (p.Asp256Asn) c.1471G>A (p.Asp491Asn) c.1444G>A (p.Asp482Asn) | |
21 | g.37505493G>C | CA409938558 | DYRK1A | c.1450G>C (p.Asp484His) c.1423G>C (p.Asp475His) c.1498G>C (p.Asp500His) n.865G>C n.4168G>C c.1336G>C (p.Asp446His) c.1363G>C (p.Asp455His) c.766G>C (p.Asp256His) c.1471G>C (p.Asp491His) c.1444G>C (p.Asp482His) | |
21 | g.37505493G>T | CA409938559 | DYRK1A | c.1450G>T (p.Asp484Tyr) c.1423G>T (p.Asp475Tyr) c.1498G>T (p.Asp500Tyr) n.865G>T n.4168G>T c.1336G>T (p.Asp446Tyr) c.1363G>T (p.Asp455Tyr) c.766G>T (p.Asp256Tyr) c.1471G>T (p.Asp491Tyr) c.1444G>T (p.Asp482Tyr) | |
21 | g.37505494A>C | CA409938560 | DYRK1A | c.1451A>C (p.Asp484Ala) c.1424A>C (p.Asp475Ala) c.1499A>C (p.Asp500Ala) n.866A>C n.4169A>C c.1337A>C (p.Asp446Ala) c.1364A>C (p.Asp455Ala) c.767A>C (p.Asp256Ala) c.1472A>C (p.Asp491Ala) c.1445A>C (p.Asp482Ala) | |
21 | g.37505494A>G | CA409938561 | DYRK1A | c.1451A>G (p.Asp484Gly) c.1424A>G (p.Asp475Gly) c.1499A>G (p.Asp500Gly) n.866A>G n.4169A>G c.1337A>G (p.Asp446Gly) c.1364A>G (p.Asp455Gly) c.767A>G (p.Asp256Gly) c.1472A>G (p.Asp491Gly) c.1445A>G (p.Asp482Gly) | |
21 | g.37505494A>T | CA409938562 | DYRK1A | c.1451A>T (p.Asp484Val) c.1424A>T (p.Asp475Val) c.1499A>T (p.Asp500Val) n.866A>T n.4169A>T c.1337A>T (p.Asp446Val) c.1364A>T (p.Asp455Val) c.767A>T (p.Asp256Val) c.1472A>T (p.Asp491Val) c.1445A>T (p.Asp482Val) | |
21 | g.37505495T>A | CA409938563 | DYRK1A | c.1452T>A (p.Asp484Glu) c.1425T>A (p.Asp475Glu) c.1500T>A (p.Asp500Glu) n.867T>A n.4170T>A c.1338T>A (p.Asp446Glu) c.1365T>A (p.Asp455Glu) c.768T>A (p.Asp256Glu) c.1473T>A (p.Asp491Glu) c.1446T>A (p.Asp482Glu) | |
21 | g.37505495T>C | CA512327991 | DYRK1A | c.1452T>C (p.Asp484=) c.1425T>C (p.Asp475=) c.1500T>C (p.Asp500=) n.867T>C n.4170T>C c.1338T>C (p.Asp446=) c.1365T>C (p.Asp455=) c.768T>C (p.Asp256=) c.1473T>C (p.Asp491=) c.1446T>C (p.Asp482=) | |
21 | g.37505495T>G | CA409938564 | DYRK1A | c.1452T>G (p.Asp484Glu) c.1425T>G (p.Asp475Glu) c.1500T>G (p.Asp500Glu) n.867T>G n.4170T>G c.1338T>G (p.Asp446Glu) c.1365T>G (p.Asp455Glu) c.768T>G (p.Asp256Glu) c.1473T>G (p.Asp491Glu) c.1446T>G (p.Asp482Glu) | |
21 | g.37505496G>A | CA409938565 | DYRK1A | c.1453G>A (p.Glu485Lys) c.1426G>A (p.Glu476Lys) c.1501G>A (p.Glu501Lys) n.868G>A n.4171G>A c.1339G>A (p.Glu447Lys) c.1366G>A (p.Glu456Lys) c.769G>A (p.Glu257Lys) c.1474G>A (p.Glu492Lys) c.1447G>A (p.Glu483Lys) | |
21 | g.37505496G>C | CA409938566 | DYRK1A | c.1453G>C (p.Glu485Gln) c.1426G>C (p.Glu476Gln) c.1501G>C (p.Glu501Gln) n.868G>C n.4171G>C c.1339G>C (p.Glu447Gln) c.1366G>C (p.Glu456Gln) c.769G>C (p.Glu257Gln) c.1474G>C (p.Glu492Gln) c.1447G>C (p.Glu483Gln) | |
21 | g.37505496G= | CA2388503373 | DYRK1A | c.1453G= (p.Glu485=) c.1426G= (p.Glu476=) c.1501G= (p.Glu501=) n.868G= n.4171G= c.1339G= (p.Glu447=) c.1366G= (p.Glu456=) c.769G= (p.Glu257=) c.1474G= (p.Glu492=) c.1447G= (p.Glu483=) | |
21 | g.37505496G>T | CA409938567 | DYRK1A | c.1453G>T (p.Glu485Ter) c.1426G>T (p.Glu476Ter) c.1501G>T (p.Glu501Ter) n.868G>T n.4171G>T c.1339G>T (p.Glu447Ter) c.1366G>T (p.Glu456Ter) c.769G>T (p.Glu257Ter) c.1474G>T (p.Glu492Ter) c.1447G>T (p.Glu483Ter) | dbSNP |
21 | g.37505497A>C | CA409938570 | DYRK1A | c.1454A>C (p.Glu485Ala) c.1427A>C (p.Glu476Ala) c.1502A>C (p.Glu501Ala) n.869A>C n.4172A>C c.1340A>C (p.Glu447Ala) c.1367A>C (p.Glu456Ala) c.770A>C (p.Glu257Ala) c.1475A>C (p.Glu492Ala) c.1448A>C (p.Glu483Ala) | |
21 | g.37505497A>G | CA409938569 | DYRK1A | c.1454A>G (p.Glu485Gly) c.1427A>G (p.Glu476Gly) c.1502A>G (p.Glu501Gly) n.869A>G n.4172A>G c.1340A>G (p.Glu447Gly) c.1367A>G (p.Glu456Gly) c.770A>G (p.Glu257Gly) c.1475A>G (p.Glu492Gly) c.1448A>G (p.Glu483Gly) | |
21 | g.37505497A>T | CA409938568 | DYRK1A | c.1454A>T (p.Glu485Val) c.1427A>T (p.Glu476Val) c.1502A>T (p.Glu501Val) n.869A>T n.4172A>T c.1340A>T (p.Glu447Val) c.1367A>T (p.Glu456Val) c.770A>T (p.Glu257Val) c.1475A>T (p.Glu492Val) c.1448A>T (p.Glu483Val) | |
21 | g.37505498A>C | CA409938571 | DYRK1A | c.1455A>C (p.Glu485Asp) c.1428A>C (p.Glu476Asp) c.1503A>C (p.Glu501Asp) n.870A>C n.4173A>C c.1341A>C (p.Glu447Asp) c.1368A>C (p.Glu456Asp) c.771A>C (p.Glu257Asp) c.1476A>C (p.Glu492Asp) c.1449A>C (p.Glu483Asp) | |
21 | g.37505498A>G | CA512327992 | DYRK1A | c.1455A>G (p.Glu485=) c.1428A>G (p.Glu476=) c.1503A>G (p.Glu501=) n.870A>G n.4173A>G c.1341A>G (p.Glu447=) c.1368A>G (p.Glu456=) c.771A>G (p.Glu257=) c.1476A>G (p.Glu492=) c.1449A>G (p.Glu483=) | |
21 | g.37505498A>T | CA409938572 | DYRK1A | c.1455A>T (p.Glu485Asp) c.1428A>T (p.Glu476Asp) c.1503A>T (p.Glu501Asp) n.870A>T n.4173A>T c.1341A>T (p.Glu447Asp) c.1368A>T (p.Glu456Asp) c.771A>T (p.Glu257Asp) c.1476A>T (p.Glu492Asp) c.1449A>T (p.Glu483Asp) | |
21 | g.37505499G>A | CA409938573 | DYRK1A | c.1456G>A (p.Gly486Ser) c.1429G>A (p.Gly477Ser) c.1504G>A (p.Gly502Ser) n.871G>A n.4174G>A c.1342G>A (p.Gly448Ser) c.1369G>A (p.Gly457Ser) c.772G>A (p.Gly258Ser) c.1477G>A (p.Gly493Ser) c.1450G>A (p.Gly484Ser) | |
21 | g.37505499G>C | CA409938574 | DYRK1A | c.1456G>C (p.Gly486Arg) c.1429G>C (p.Gly477Arg) c.1504G>C (p.Gly502Arg) n.871G>C n.4174G>C c.1342G>C (p.Gly448Arg) c.1369G>C (p.Gly457Arg) c.772G>C (p.Gly258Arg) c.1477G>C (p.Gly493Arg) c.1450G>C (p.Gly484Arg) | |
21 | g.37505499G>T | CA409938575 | DYRK1A | c.1456G>T (p.Gly486Cys) c.1429G>T (p.Gly477Cys) c.1504G>T (p.Gly502Cys) n.871G>T n.4174G>T c.1342G>T (p.Gly448Cys) c.1369G>T (p.Gly457Cys) c.772G>T (p.Gly258Cys) c.1477G>T (p.Gly493Cys) c.1450G>T (p.Gly484Cys) | |
21 | g.37505500G>A | CA409938576 | DYRK1A | c.1457G>A (p.Gly486Asp) c.1430G>A (p.Gly477Asp) c.1505G>A (p.Gly502Asp) n.872G>A n.4175G>A c.1343G>A (p.Gly448Asp) c.1370G>A (p.Gly457Asp) c.773G>A (p.Gly258Asp) c.1478G>A (p.Gly493Asp) c.1451G>A (p.Gly484Asp) | ClinVar dbSNP |
21 | g.37505500G>C | CA409938577 | DYRK1A | c.1457G>C (p.Gly486Ala) c.1430G>C (p.Gly477Ala) c.1505G>C (p.Gly502Ala) n.872G>C n.4175G>C c.1343G>C (p.Gly448Ala) c.1370G>C (p.Gly457Ala) c.773G>C (p.Gly258Ala) c.1478G>C (p.Gly493Ala) c.1451G>C (p.Gly484Ala) | |
21 | g.37505500G= | CA2388503375 | DYRK1A | c.1457G= (p.Gly486=) c.1430G= (p.Gly477=) c.1505G= (p.Gly502=) n.872G= n.4175G= c.1343G= (p.Gly448=) c.1370G= (p.Gly457=) c.773G= (p.Gly258=) c.1478G= (p.Gly493=) c.1451G= (p.Gly484=) | |
21 | g.37505500G>T | CA409938578 | DYRK1A | c.1457G>T (p.Gly486Val) c.1430G>T (p.Gly477Val) c.1505G>T (p.Gly502Val) n.872G>T n.4175G>T c.1343G>T (p.Gly448Val) c.1370G>T (p.Gly457Val) c.773G>T (p.Gly258Val) c.1478G>T (p.Gly493Val) c.1451G>T (p.Gly484Val) | |
21 | g.37505501T>A | CA512327993 | DYRK1A | c.1458T>A (p.Gly486=) c.1431T>A (p.Gly477=) c.1506T>A (p.Gly502=) n.873T>A n.4176T>A c.1344T>A (p.Gly448=) c.1371T>A (p.Gly457=) c.774T>A (p.Gly258=) c.1479T>A (p.Gly493=) c.1452T>A (p.Gly484=) | |
21 | g.37505501T>C | CA512327994 | DYRK1A | c.1458T>C (p.Gly486=) c.1431T>C (p.Gly477=) c.1506T>C (p.Gly502=) n.873T>C n.4176T>C c.1344T>C (p.Gly448=) c.1371T>C (p.Gly457=) c.774T>C (p.Gly258=) c.1479T>C (p.Gly493=) c.1452T>C (p.Gly484=) | dbSNP gnomAD v4 |
21 | g.37505501T>G | CA512327995 | DYRK1A | c.1458T>G (p.Gly486=) c.1431T>G (p.Gly477=) c.1506T>G (p.Gly502=) n.873T>G n.4176T>G c.1344T>G (p.Gly448=) c.1371T>G (p.Gly457=) c.774T>G (p.Gly258=) c.1479T>G (p.Gly493=) c.1452T>G (p.Gly484=) | |
21 | g.37505501T= | CA2388503377 | DYRK1A | c.1458T= (p.Gly486=) c.1431T= (p.Gly477=) c.1506T= (p.Gly502=) n.873T= n.4176T= c.1344T= (p.Gly448=) c.1371T= (p.Gly457=) c.774T= (p.Gly258=) c.1479T= (p.Gly493=) c.1452T= (p.Gly484=) | |
21 | g.37505502A>C | CA409938579 | DYRK1A | c.1459A>C (p.Thr487Pro) c.1432A>C (p.Thr478Pro) c.1507A>C (p.Thr503Pro) n.874A>C n.4177A>C c.1345A>C (p.Thr449Pro) c.1372A>C (p.Thr458Pro) c.775A>C (p.Thr259Pro) c.1480A>C (p.Thr494Pro) c.1453A>C (p.Thr485Pro) | |
21 | g.37505502A>G | CA409938580 | DYRK1A | c.1459A>G (p.Thr487Ala) c.1432A>G (p.Thr478Ala) c.1507A>G (p.Thr503Ala) n.874A>G n.4177A>G c.1345A>G (p.Thr449Ala) c.1372A>G (p.Thr458Ala) c.775A>G (p.Thr259Ala) c.1480A>G (p.Thr494Ala) c.1453A>G (p.Thr485Ala) | |
21 | g.37505502A>T | CA409938581 | DYRK1A | c.1459A>T (p.Thr487Ser) c.1432A>T (p.Thr478Ser) c.1507A>T (p.Thr503Ser) n.874A>T n.4177A>T c.1345A>T (p.Thr449Ser) c.1372A>T (p.Thr458Ser) c.775A>T (p.Thr259Ser) c.1480A>T (p.Thr494Ser) c.1453A>T (p.Thr485Ser) | |
21 | g.37505503C>A | CA409938584 | DYRK1A | c.1460C>A (p.Thr487Lys) c.1433C>A (p.Thr478Lys) c.1508C>A (p.Thr503Lys) n.875C>A n.4178C>A c.1346C>A (p.Thr449Lys) c.1373C>A (p.Thr458Lys) c.776C>A (p.Thr259Lys) c.1481C>A (p.Thr494Lys) c.1454C>A (p.Thr485Lys) | |
21 | g.37505503C>G | CA409938583 | DYRK1A | c.1460C>G (p.Thr487Arg) c.1433C>G (p.Thr478Arg) c.1508C>G (p.Thr503Arg) n.875C>G n.4178C>G c.1346C>G (p.Thr449Arg) c.1373C>G (p.Thr458Arg) c.776C>G (p.Thr259Arg) c.1481C>G (p.Thr494Arg) c.1454C>G (p.Thr485Arg) | |
21 | g.37505503C>T | CA409938582 | DYRK1A | c.1460C>T (p.Thr487Ile) c.1433C>T (p.Thr478Ile) c.1508C>T (p.Thr503Ile) n.875C>T n.4178C>T c.1346C>T (p.Thr449Ile) c.1373C>T (p.Thr458Ile) c.776C>T (p.Thr259Ile) c.1481C>T (p.Thr494Ile) c.1454C>T (p.Thr485Ile) | ClinVar |
21 | g.37505504A>C | CA512327996 | DYRK1A | c.1461A>C (p.Thr487=) c.1434A>C (p.Thr478=) c.1509A>C (p.Thr503=) n.876A>C n.4179A>C c.1347A>C (p.Thr449=) c.1374A>C (p.Thr458=) c.777A>C (p.Thr259=) c.1482A>C (p.Thr494=) c.1455A>C (p.Thr485=) | |
21 | g.37505504A>G | CA512327998 | DYRK1A | c.1461A>G (p.Thr487=) c.1434A>G (p.Thr478=) c.1509A>G (p.Thr503=) n.876A>G n.4179A>G c.1347A>G (p.Thr449=) c.1374A>G (p.Thr458=) c.777A>G (p.Thr259=) c.1482A>G (p.Thr494=) c.1455A>G (p.Thr485=) | |
21 | g.37505504A>T | CA512327997 | DYRK1A | c.1461A>T (p.Thr487=) c.1434A>T (p.Thr478=) c.1509A>T (p.Thr503=) n.876A>T n.4179A>T c.1347A>T (p.Thr449=) c.1374A>T (p.Thr458=) c.777A>T (p.Thr259=) c.1482A>T (p.Thr494=) c.1455A>T (p.Thr485=) | |
21 | g.37505505A>C | CA409938585 | DYRK1A | c.1462A>C (p.Asn488His) c.1435A>C (p.Asn479His) c.1510A>C (p.Asn504His) n.877A>C n.4180A>C c.1348A>C (p.Asn450His) c.1375A>C (p.Asn459His) c.778A>C (p.Asn260His) c.1483A>C (p.Asn495His) c.1456A>C (p.Asn486His) | |
21 | g.37505505A>G | CA409938586 | DYRK1A | c.1462A>G (p.Asn488Asp) c.1435A>G (p.Asn479Asp) c.1510A>G (p.Asn504Asp) n.877A>G n.4180A>G c.1348A>G (p.Asn450Asp) c.1375A>G (p.Asn459Asp) c.778A>G (p.Asn260Asp) c.1483A>G (p.Asn495Asp) c.1456A>G (p.Asn486Asp) | |
21 | g.37505505A>T | CA409938587 | DYRK1A | c.1462A>T (p.Asn488Tyr) c.1435A>T (p.Asn479Tyr) c.1510A>T (p.Asn504Tyr) n.877A>T n.4180A>T c.1348A>T (p.Asn450Tyr) c.1375A>T (p.Asn459Tyr) c.778A>T (p.Asn260Tyr) c.1483A>T (p.Asn495Tyr) c.1456A>T (p.Asn486Tyr) | |
21 | g.37505506A= | CA2388503378 | DYRK1A | c.1463A= (p.Asn488=) c.1436A= (p.Asn479=) c.1511A= (p.Asn504=) n.878A= n.4181A= c.1349A= (p.Asn450=) c.1376A= (p.Asn459=) c.779A= (p.Asn260=) c.1484A= (p.Asn495=) c.1457A= (p.Asn486=) | |
21 | g.37505506A>C | CA409938588 | DYRK1A | c.1463A>C (p.Asn488Thr) c.1436A>C (p.Asn479Thr) c.1511A>C (p.Asn504Thr) n.878A>C n.4181A>C c.1349A>C (p.Asn450Thr) c.1376A>C (p.Asn459Thr) c.779A>C (p.Asn260Thr) c.1484A>C (p.Asn495Thr) c.1457A>C (p.Asn486Thr) | ClinVar dbSNP |
21 | g.37505506A>G | CA409938589 | DYRK1A | c.1463A>G (p.Asn488Ser) c.1436A>G (p.Asn479Ser) c.1511A>G (p.Asn504Ser) n.878A>G n.4181A>G c.1349A>G (p.Asn450Ser) c.1376A>G (p.Asn459Ser) c.779A>G (p.Asn260Ser) c.1484A>G (p.Asn495Ser) c.1457A>G (p.Asn486Ser) | |
21 | g.37505506A>T | CA409938590 | DYRK1A | c.1463A>T (p.Asn488Ile) c.1436A>T (p.Asn479Ile) c.1511A>T (p.Asn504Ile) n.878A>T n.4181A>T c.1349A>T (p.Asn450Ile) c.1376A>T (p.Asn459Ile) c.779A>T (p.Asn260Ile) c.1484A>T (p.Asn495Ile) c.1457A>T (p.Asn486Ile) | |
21 | g.37505507T>A | CA409938592 | DYRK1A | c.1464T>A (p.Asn488Lys) c.1437T>A (p.Asn479Lys) c.1512T>A (p.Asn504Lys) n.879T>A n.4182T>A c.1350T>A (p.Asn450Lys) c.1377T>A (p.Asn459Lys) c.780T>A (p.Asn260Lys) c.1485T>A (p.Asn495Lys) c.1458T>A (p.Asn486Lys) | |
21 | g.37505507T>C | CA512327999 | DYRK1A | c.1464T>C (p.Asn488=) c.1437T>C (p.Asn479=) c.1512T>C (p.Asn504=) n.879T>C n.4182T>C c.1350T>C (p.Asn450=) c.1377T>C (p.Asn459=) c.780T>C (p.Asn260=) c.1485T>C (p.Asn495=) c.1458T>C (p.Asn486=) | |
21 | g.37505507T>G | CA409938591 | DYRK1A | c.1464T>G (p.Asn488Lys) c.1437T>G (p.Asn479Lys) c.1512T>G (p.Asn504Lys) n.879T>G n.4182T>G c.1350T>G (p.Asn450Lys) c.1377T>G (p.Asn459Lys) c.780T>G (p.Asn260Lys) c.1485T>G (p.Asn495Lys) c.1458T>G (p.Asn486Lys) | |
21 | g.37505508A>C | CA409938593 | DYRK1A | c.1465A>C (p.Thr489Pro) c.1438A>C (p.Thr480Pro) c.1513A>C (p.Thr505Pro) n.880A>C n.4183A>C c.1351A>C (p.Thr451Pro) c.1378A>C (p.Thr460Pro) c.781A>C (p.Thr261Pro) c.1486A>C (p.Thr496Pro) c.1459A>C (p.Thr487Pro) | |
21 | g.37505508A>G | CA409938594 | DYRK1A | c.1465A>G (p.Thr489Ala) c.1438A>G (p.Thr480Ala) c.1513A>G (p.Thr505Ala) n.880A>G n.4183A>G c.1351A>G (p.Thr451Ala) c.1378A>G (p.Thr460Ala) c.781A>G (p.Thr261Ala) c.1486A>G (p.Thr496Ala) c.1459A>G (p.Thr487Ala) | |
21 | g.37505508A>T | CA409938595 | DYRK1A | c.1465A>T (p.Thr489Ser) c.1438A>T (p.Thr480Ser) c.1513A>T (p.Thr505Ser) n.880A>T n.4183A>T c.1351A>T (p.Thr451Ser) c.1378A>T (p.Thr460Ser) c.781A>T (p.Thr261Ser) c.1486A>T (p.Thr496Ser) c.1459A>T (p.Thr487Ser) | |
21 | g.37505509C>A | CA409938596 | DYRK1A | c.1466C>A (p.Thr489Lys) c.1439C>A (p.Thr480Lys) c.1514C>A (p.Thr505Lys) n.881C>A n.4184C>A c.1352C>A (p.Thr451Lys) c.1379C>A (p.Thr460Lys) c.782C>A (p.Thr261Lys) c.1487C>A (p.Thr496Lys) c.1460C>A (p.Thr487Lys) | |
21 | g.37505509C>G | CA409938597 | DYRK1A | c.1466C>G (p.Thr489Arg) c.1439C>G (p.Thr480Arg) c.1514C>G (p.Thr505Arg) n.881C>G n.4184C>G c.1352C>G (p.Thr451Arg) c.1379C>G (p.Thr460Arg) c.782C>G (p.Thr261Arg) c.1487C>G (p.Thr496Arg) c.1460C>G (p.Thr487Arg) | |
21 | g.37505509C>T | CA409938598 | DYRK1A | c.1466C>T (p.Thr489Ile) c.1439C>T (p.Thr480Ile) c.1514C>T (p.Thr505Ile) n.881C>T n.4184C>T c.1352C>T (p.Thr451Ile) c.1379C>T (p.Thr460Ile) c.782C>T (p.Thr261Ile) c.1487C>T (p.Thr496Ile) c.1460C>T (p.Thr487Ile) | |
21 | g.37505510A>C | CA512328000 | DYRK1A | c.1467A>C (p.Thr489=) c.1440A>C (p.Thr480=) c.1515A>C (p.Thr505=) n.882A>C n.4185A>C c.1353A>C (p.Thr451=) c.1380A>C (p.Thr460=) c.783A>C (p.Thr261=) c.1488A>C (p.Thr496=) c.1461A>C (p.Thr487=) | |
21 | g.37505510A>G | CA512328001 | DYRK1A | c.1467A>G (p.Thr489=) c.1440A>G (p.Thr480=) c.1515A>G (p.Thr505=) n.882A>G n.4185A>G c.1353A>G (p.Thr451=) c.1380A>G (p.Thr460=) c.783A>G (p.Thr261=) c.1488A>G (p.Thr496=) c.1461A>G (p.Thr487=) | |
21 | g.37505510A>T | CA512328002 | DYRK1A | c.1467A>T (p.Thr489=) c.1440A>T (p.Thr480=) c.1515A>T (p.Thr505=) n.882A>T n.4185A>T c.1353A>T (p.Thr451=) c.1380A>T (p.Thr460=) c.783A>T (p.Thr261=) c.1488A>T (p.Thr496=) c.1461A>T (p.Thr487=) | |
21 | g.37505511A>C | CA409938599 | DYRK1A | c.1468A>C (p.Ser490Arg) c.1441A>C (p.Ser481Arg) c.1516A>C (p.Ser506Arg) n.883A>C n.4186A>C c.1354A>C (p.Ser452Arg) c.1381A>C (p.Ser461Arg) c.784A>C (p.Ser262Arg) c.1489A>C (p.Ser497Arg) c.1462A>C (p.Ser488Arg) | |
21 | g.37505511A>G | CA409938601 | DYRK1A | c.1468A>G (p.Ser490Gly) c.1441A>G (p.Ser481Gly) c.1516A>G (p.Ser506Gly) n.883A>G n.4186A>G c.1354A>G (p.Ser452Gly) c.1381A>G (p.Ser461Gly) c.784A>G (p.Ser262Gly) c.1489A>G (p.Ser497Gly) c.1462A>G (p.Ser488Gly) | |
21 | g.37505511A>T | CA409938600 | DYRK1A | c.1468A>T (p.Ser490Cys) c.1441A>T (p.Ser481Cys) c.1516A>T (p.Ser506Cys) n.883A>T n.4186A>T c.1354A>T (p.Ser452Cys) c.1381A>T (p.Ser461Cys) c.784A>T (p.Ser262Cys) c.1489A>T (p.Ser497Cys) c.1462A>T (p.Ser488Cys) | |
21 | g.37505512G>A | CA409938602 | DYRK1A | c.1469G>A (p.Ser490Asn) c.1442G>A (p.Ser481Asn) c.1517G>A (p.Ser506Asn) n.884G>A n.4187G>A c.1355G>A (p.Ser452Asn) c.1382G>A (p.Ser461Asn) c.785G>A (p.Ser262Asn) c.1490G>A (p.Ser497Asn) c.1463G>A (p.Ser488Asn) | |
21 | g.37505512G>C | CA409938603 | DYRK1A | c.1469G>C (p.Ser490Thr) c.1442G>C (p.Ser481Thr) c.1517G>C (p.Ser506Thr) n.884G>C n.4187G>C c.1355G>C (p.Ser452Thr) c.1382G>C (p.Ser461Thr) c.785G>C (p.Ser262Thr) c.1490G>C (p.Ser497Thr) c.1463G>C (p.Ser488Thr) | |
21 | g.37505512G>T | CA409938604 | DYRK1A | c.1469G>T (p.Ser490Ile) c.1442G>T (p.Ser481Ile) c.1517G>T (p.Ser506Ile) n.884G>T n.4187G>T c.1355G>T (p.Ser452Ile) c.1382G>T (p.Ser461Ile) c.785G>T (p.Ser262Ile) c.1490G>T (p.Ser497Ile) c.1463G>T (p.Ser488Ile) | |
21 | g.37505513T>A | CA409938605 | DYRK1A | c.1470T>A (p.Ser490Arg) c.1443T>A (p.Ser481Arg) c.1518T>A (p.Ser506Arg) n.885T>A n.4188T>A c.1356T>A (p.Ser452Arg) c.1383T>A (p.Ser461Arg) c.786T>A (p.Ser262Arg) c.1491T>A (p.Ser497Arg) c.1464T>A (p.Ser488Arg) | |
21 | g.37505513T>C | CA512328003 | DYRK1A | c.1470T>C (p.Ser490=) c.1443T>C (p.Ser481=) c.1518T>C (p.Ser506=) n.885T>C n.4188T>C c.1356T>C (p.Ser452=) c.1383T>C (p.Ser461=) c.786T>C (p.Ser262=) c.1491T>C (p.Ser497=) c.1464T>C (p.Ser488=) | |
21 | g.37505513T>G | CA409938606 | DYRK1A | c.1470T>G (p.Ser490Arg) c.1443T>G (p.Ser481Arg) c.1518T>G (p.Ser506Arg) n.885T>G n.4188T>G c.1356T>G (p.Ser452Arg) c.1383T>G (p.Ser461Arg) c.786T>G (p.Ser262Arg) c.1491T>G (p.Ser497Arg) c.1464T>G (p.Ser488Arg) | |
21 | g.37505514A= | CA2388503380 | DYRK1A | c.1471A= (p.Asn491=) c.1444A= (p.Asn482=) c.1519A= (p.Asn507=) n.886A= n.4189A= c.1357A= (p.Asn453=) c.1384A= (p.Asn462=) c.787A= (p.Asn263=) c.1492A= (p.Asn498=) c.1465A= (p.Asn489=) | |
21 | g.37505514A>C | CA409938607 | DYRK1A | c.1471A>C (p.Asn491His) c.1444A>C (p.Asn482His) c.1519A>C (p.Asn507His) n.886A>C n.4189A>C c.1357A>C (p.Asn453His) c.1384A>C (p.Asn462His) c.787A>C (p.Asn263His) c.1492A>C (p.Asn498His) c.1465A>C (p.Asn489His) | ClinVar dbSNP |
21 | g.37505514A>G | CA409938608 | DYRK1A | c.1471A>G (p.Asn491Asp) c.1444A>G (p.Asn482Asp) c.1519A>G (p.Asn507Asp) n.886A>G n.4189A>G c.1357A>G (p.Asn453Asp) c.1384A>G (p.Asn462Asp) c.787A>G (p.Asn263Asp) c.1492A>G (p.Asn498Asp) c.1465A>G (p.Asn489Asp) | |
21 | g.37505514A>T | CA409938609 | DYRK1A | c.1471A>T (p.Asn491Tyr) c.1444A>T (p.Asn482Tyr) c.1519A>T (p.Asn507Tyr) n.886A>T n.4189A>T c.1357A>T (p.Asn453Tyr) c.1384A>T (p.Asn462Tyr) c.787A>T (p.Asn263Tyr) c.1492A>T (p.Asn498Tyr) c.1465A>T (p.Asn489Tyr) | |
21 | g.37505514_37505516delinsAAT | CA2388503379 | DYRK1A | c.1471_1473delinsAAT (p.Asn491=) c.1444_1446delinsAAT (p.Asn482=) c.1519_1521delinsAAT (p.Asn507=) n.886_888delinsAAT n.4189_4191delinsAAT c.1357_1359delinsAAT (p.Asn453=) c.1384_1386delinsAAT (p.Asn462=) c.787_789delinsAAT (p.Asn263=) c.1492_1494delinsAAT (p.Asn498=) c.1465_1467delinsAAT (p.Asn489=) | |
21 | g.37505515A>C | CA409938610 | DYRK1A | c.1472A>C (p.Asn491Thr) c.1445A>C (p.Asn482Thr) c.1520A>C (p.Asn507Thr) n.887A>C n.4190A>C c.1358A>C (p.Asn453Thr) c.1385A>C (p.Asn462Thr) c.788A>C (p.Asn263Thr) c.1493A>C (p.Asn498Thr) c.1466A>C (p.Asn489Thr) | gnomAD v4 |
21 | g.37505515A>G | CA409938611 | DYRK1A | c.1472A>G (p.Asn491Ser) c.1445A>G (p.Asn482Ser) c.1520A>G (p.Asn507Ser) n.887A>G n.4190A>G c.1358A>G (p.Asn453Ser) c.1385A>G (p.Asn462Ser) c.788A>G (p.Asn263Ser) c.1493A>G (p.Asn498Ser) c.1466A>G (p.Asn489Ser) | gnomAD v4 |
21 | g.37505515A>T | CA409938612 | DYRK1A | c.1472A>T (p.Asn491Ile) c.1445A>T (p.Asn482Ile) c.1520A>T (p.Asn507Ile) n.887A>T n.4190A>T c.1358A>T (p.Asn453Ile) c.1385A>T (p.Asn462Ile) c.788A>T (p.Asn263Ile) c.1493A>T (p.Asn498Ile) c.1466A>T (p.Asn489Ile) | |
21 | g.37505515_37505516delinsTCTACA | CA16621005 | DYRK1A | c.1472_1473delinsTCTACA (p.Asn491IlefsTer?) c.1445_1446delinsTCTACA (p.Asn482IlefsTer?) c.1520_1521delinsTCTACA (p.Asn507IlefsTer?) n.887_888delinsTCTACA n.4190_4191delinsTCTACA c.1358_1359delinsTCTACA (p.Asn453IlefsTer?) c.1385_1386delinsTCTACA (p.Asn462IlefsTer?) c.788_789delinsTCTACA (p.Asn263IlefsTer?) c.1493_1494delinsTCTACA (p.Asn498IlefsTer?) c.1466_1467delinsTCTACA (p.Asn489IlefsTer?) | ClinVar dbSNP |
21 | g.37505516T>A | CA409938614 | DYRK1A | c.1473T>A (p.Asn491Lys) c.1446T>A (p.Asn482Lys) c.1521T>A (p.Asn507Lys) n.888T>A n.4191T>A c.1359T>A (p.Asn453Lys) c.1386T>A (p.Asn462Lys) c.789T>A (p.Asn263Lys) c.1494T>A (p.Asn498Lys) c.1467T>A (p.Asn489Lys) | |
21 | g.37505516T>C | CA512328004 | DYRK1A | c.1473T>C (p.Asn491=) c.1446T>C (p.Asn482=) c.1521T>C (p.Asn507=) n.888T>C n.4191T>C c.1359T>C (p.Asn453=) c.1386T>C (p.Asn462=) c.789T>C (p.Asn263=) c.1494T>C (p.Asn498=) c.1467T>C (p.Asn489=) | |
21 | g.37505516T>G | CA409938613 | DYRK1A | c.1473T>G (p.Asn491Lys) c.1446T>G (p.Asn482Lys) c.1521T>G (p.Asn507Lys) n.888T>G n.4191T>G c.1359T>G (p.Asn453Lys) c.1386T>G (p.Asn462Lys) c.789T>G (p.Asn263Lys) c.1494T>G (p.Asn498Lys) c.1467T>G (p.Asn489Lys) | |
21 | g.37505517A>C | CA409938615 | DYRK1A | c.1474A>C (p.Ser492Arg) c.1447A>C (p.Ser483Arg) c.1522A>C (p.Ser508Arg) n.889A>C n.4192A>C c.1360A>C (p.Ser454Arg) c.1387A>C (p.Ser463Arg) c.790A>C (p.Ser264Arg) c.1495A>C (p.Ser499Arg) c.1468A>C (p.Ser490Arg) | |
21 | g.37505517A>G | CA409938617 | DYRK1A | c.1474A>G (p.Ser492Gly) c.1447A>G (p.Ser483Gly) c.1522A>G (p.Ser508Gly) n.889A>G n.4192A>G c.1360A>G (p.Ser454Gly) c.1387A>G (p.Ser463Gly) c.790A>G (p.Ser264Gly) c.1495A>G (p.Ser499Gly) c.1468A>G (p.Ser490Gly) | gnomAD v4 |
21 | g.37505517A>T | CA409938616 | DYRK1A | c.1474A>T (p.Ser492Cys) c.1447A>T (p.Ser483Cys) c.1522A>T (p.Ser508Cys) n.889A>T n.4192A>T c.1360A>T (p.Ser454Cys) c.1387A>T (p.Ser463Cys) c.790A>T (p.Ser264Cys) c.1495A>T (p.Ser499Cys) c.1468A>T (p.Ser490Cys) | |
21 | g.37505518G>A | CA409938618 | DYRK1A | c.1475G>A (p.Ser492Asn) c.1448G>A (p.Ser483Asn) c.1523G>A (p.Ser508Asn) n.890G>A n.4193G>A c.1361G>A (p.Ser454Asn) c.1388G>A (p.Ser463Asn) c.791G>A (p.Ser264Asn) c.1496G>A (p.Ser499Asn) c.1469G>A (p.Ser490Asn) | |
21 | g.37505518G>C | CA409938620 | DYRK1A | c.1475G>C (p.Ser492Thr) c.1448G>C (p.Ser483Thr) c.1523G>C (p.Ser508Thr) n.890G>C n.4193G>C c.1361G>C (p.Ser454Thr) c.1388G>C (p.Ser463Thr) c.791G>C (p.Ser264Thr) c.1496G>C (p.Ser499Thr) c.1469G>C (p.Ser490Thr) | |
21 | g.37505518G>T | CA409938619 | DYRK1A | c.1475G>T (p.Ser492Ile) c.1448G>T (p.Ser483Ile) c.1523G>T (p.Ser508Ile) n.890G>T n.4193G>T c.1361G>T (p.Ser454Ile) c.1388G>T (p.Ser463Ile) c.791G>T (p.Ser264Ile) c.1496G>T (p.Ser499Ile) c.1469G>T (p.Ser490Ile) | |
21 | g.37505519T>A | CA409938621 | DYRK1A | c.1476T>A (p.Ser492Arg) c.1449T>A (p.Ser483Arg) c.1524T>A (p.Ser508Arg) n.891T>A n.4194T>A c.1362T>A (p.Ser454Arg) c.1389T>A (p.Ser463Arg) c.792T>A (p.Ser264Arg) c.1497T>A (p.Ser499Arg) c.1470T>A (p.Ser490Arg) | |
21 | g.37505519T>C | CA512328005 | DYRK1A | c.1476T>C (p.Ser492=) c.1449T>C (p.Ser483=) c.1524T>C (p.Ser508=) n.891T>C n.4194T>C c.1362T>C (p.Ser454=) c.1389T>C (p.Ser463=) c.792T>C (p.Ser264=) c.1497T>C (p.Ser499=) c.1470T>C (p.Ser490=) | |
21 | g.37505519T>G | CA409938622 | DYRK1A | c.1476T>G (p.Ser492Arg) c.1449T>G (p.Ser483Arg) c.1524T>G (p.Ser508Arg) n.891T>G n.4194T>G c.1362T>G (p.Ser454Arg) c.1389T>G (p.Ser463Arg) c.792T>G (p.Ser264Arg) c.1497T>G (p.Ser499Arg) c.1470T>G (p.Ser490Arg) | |
21 | g.37505520G>A | CA409938623 | DYRK1A | c.1477G>A (p.Val493Ile) c.1450G>A (p.Val484Ile) c.1525G>A (p.Val509Ile) n.892G>A n.4195G>A c.1363G>A (p.Val455Ile) c.1390G>A (p.Val464Ile) c.793G>A (p.Val265Ile) c.1498G>A (p.Val500Ile) c.1471G>A (p.Val491Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
21 | g.37505520G>C | CA409938624 | DYRK1A | c.1477G>C (p.Val493Leu) c.1450G>C (p.Val484Leu) c.1525G>C (p.Val509Leu) n.892G>C n.4195G>C c.1363G>C (p.Val455Leu) c.1390G>C (p.Val464Leu) c.793G>C (p.Val265Leu) c.1498G>C (p.Val500Leu) c.1471G>C (p.Val491Leu) | |
21 | g.37505520G= | CA2388503381 | DYRK1A | c.1477G= (p.Val493=) c.1450G= (p.Val484=) c.1525G= (p.Val509=) n.892G= n.4195G= c.1363G= (p.Val455=) c.1390G= (p.Val464=) c.793G= (p.Val265=) c.1498G= (p.Val500=) c.1471G= (p.Val491=) | |
21 | g.37505520G>T | CA409938625 | DYRK1A | c.1477G>T (p.Val493Leu) c.1450G>T (p.Val484Leu) c.1525G>T (p.Val509Leu) n.892G>T n.4195G>T c.1363G>T (p.Val455Leu) c.1390G>T (p.Val464Leu) c.793G>T (p.Val265Leu) c.1498G>T (p.Val500Leu) c.1471G>T (p.Val491Leu) | |
21 | g.37505521T>A | CA409938626 | DYRK1A | c.1478T>A (p.Val493Glu) c.1451T>A (p.Val484Glu) c.1526T>A (p.Val509Glu) n.893T>A n.4196T>A c.1364T>A (p.Val455Glu) c.1391T>A (p.Val464Glu) c.794T>A (p.Val265Glu) c.1499T>A (p.Val500Glu) c.1472T>A (p.Val491Glu) | |
21 | g.37505521T>C | CA409938627 | DYRK1A | c.1478T>C (p.Val493Ala) c.1451T>C (p.Val484Ala) c.1526T>C (p.Val509Ala) n.893T>C n.4196T>C c.1364T>C (p.Val455Ala) c.1391T>C (p.Val464Ala) c.794T>C (p.Val265Ala) c.1499T>C (p.Val500Ala) c.1472T>C (p.Val491Ala) | ClinVar dbSNP |
21 | g.37505521T>G | CA409938628 | DYRK1A | c.1478T>G (p.Val493Gly) c.1451T>G (p.Val484Gly) c.1526T>G (p.Val509Gly) n.893T>G n.4196T>G c.1364T>G (p.Val455Gly) c.1391T>G (p.Val464Gly) c.794T>G (p.Val265Gly) c.1499T>G (p.Val500Gly) c.1472T>G (p.Val491Gly) | |
21 | g.37505522A>C | CA512328006 | DYRK1A | c.1479A>C (p.Val493=) c.1452A>C (p.Val484=) c.1527A>C (p.Val509=) n.894A>C n.4197A>C c.1365A>C (p.Val455=) c.1392A>C (p.Val464=) c.795A>C (p.Val265=) c.1500A>C (p.Val500=) c.1473A>C (p.Val491=) | gnomAD v4 |
21 | g.37505522A>G | CA512328007 | DYRK1A | c.1479A>G (p.Val493=) c.1452A>G (p.Val484=) c.1527A>G (p.Val509=) n.894A>G n.4197A>G c.1365A>G (p.Val455=) c.1392A>G (p.Val464=) c.795A>G (p.Val265=) c.1500A>G (p.Val500=) c.1473A>G (p.Val491=) | gnomAD v4 |
21 | g.37505522A>T | CA512328008 | DYRK1A | c.1479A>T (p.Val493=) c.1452A>T (p.Val484=) c.1527A>T (p.Val509=) n.894A>T n.4197A>T c.1365A>T (p.Val455=) c.1392A>T (p.Val464=) c.795A>T (p.Val265=) c.1500A>T (p.Val500=) c.1473A>T (p.Val491=) | |
21 | g.37505523T>A | CA10023977 | DYRK1A | c.1480T>A (p.Ser494Thr) c.1453T>A (p.Ser485Thr) c.1528T>A (p.Ser510Thr) n.895T>A n.4198T>A c.1366T>A (p.Ser456Thr) c.1393T>A (p.Ser465Thr) c.796T>A (p.Ser266Thr) c.1501T>A (p.Ser501Thr) c.1474T>A (p.Ser492Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37505523T>C | CA409938629 | DYRK1A | c.1480T>C (p.Ser494Pro) c.1453T>C (p.Ser485Pro) c.1528T>C (p.Ser510Pro) n.895T>C n.4198T>C c.1366T>C (p.Ser456Pro) c.1393T>C (p.Ser465Pro) c.796T>C (p.Ser266Pro) c.1501T>C (p.Ser501Pro) c.1474T>C (p.Ser492Pro) | |
21 | g.37505523T>G | CA409938630 | DYRK1A | c.1480T>G (p.Ser494Ala) c.1453T>G (p.Ser485Ala) c.1528T>G (p.Ser510Ala) n.895T>G n.4198T>G c.1366T>G (p.Ser456Ala) c.1393T>G (p.Ser465Ala) c.796T>G (p.Ser266Ala) c.1501T>G (p.Ser501Ala) c.1474T>G (p.Ser492Ala) | |
21 | g.37505523T= | CA2388503382 | DYRK1A | c.1480T= (p.Ser494=) c.1453T= (p.Ser485=) c.1528T= (p.Ser510=) n.895T= n.4198T= c.1366T= (p.Ser456=) c.1393T= (p.Ser465=) c.796T= (p.Ser266=) c.1501T= (p.Ser501=) c.1474T= (p.Ser492=) | |
21 | g.37505524C>A | CA409938633 | DYRK1A | c.1481C>A (p.Ser494Tyr) c.1454C>A (p.Ser485Tyr) c.1529C>A (p.Ser510Tyr) n.896C>A n.4199C>A c.1367C>A (p.Ser456Tyr) c.1394C>A (p.Ser465Tyr) c.797C>A (p.Ser266Tyr) c.1502C>A (p.Ser501Tyr) c.1475C>A (p.Ser492Tyr) | |
21 | g.37505524C= | CA2388503383 | DYRK1A | c.1481C= (p.Ser494=) c.1454C= (p.Ser485=) c.1529C= (p.Ser510=) n.896C= n.4199C= c.1367C= (p.Ser456=) c.1394C= (p.Ser465=) c.797C= (p.Ser266=) c.1502C= (p.Ser501=) c.1475C= (p.Ser492=) | |
21 | g.37505524C>G | CA409938631 | DYRK1A | c.1481C>G (p.Ser494Cys) c.1454C>G (p.Ser485Cys) c.1529C>G (p.Ser510Cys) n.896C>G n.4199C>G c.1367C>G (p.Ser456Cys) c.1394C>G (p.Ser465Cys) c.797C>G (p.Ser266Cys) c.1502C>G (p.Ser501Cys) c.1475C>G (p.Ser492Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.37505524C>T | CA409938632 | DYRK1A | c.1481C>T (p.Ser494Phe) c.1454C>T (p.Ser485Phe) c.1529C>T (p.Ser510Phe) n.896C>T n.4199C>T c.1367C>T (p.Ser456Phe) c.1394C>T (p.Ser465Phe) c.797C>T (p.Ser266Phe) c.1502C>T (p.Ser501Phe) c.1475C>T (p.Ser492Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37505525T>A | CA512328009 | DYRK1A | c.1482T>A (p.Ser494=) c.1455T>A (p.Ser485=) c.1530T>A (p.Ser510=) n.897T>A n.4200T>A c.1368T>A (p.Ser456=) c.1395T>A (p.Ser465=) c.798T>A (p.Ser266=) c.1503T>A (p.Ser501=) c.1476T>A (p.Ser492=) | |
21 | g.37505525T>C | CA512328010 | DYRK1A | c.1482T>C (p.Ser494=) c.1455T>C (p.Ser485=) c.1530T>C (p.Ser510=) n.897T>C n.4200T>C c.1368T>C (p.Ser456=) c.1395T>C (p.Ser465=) c.798T>C (p.Ser266=) c.1503T>C (p.Ser501=) c.1476T>C (p.Ser492=) | |
21 | g.37505525T>G | CA512328011 | DYRK1A | c.1482T>G (p.Ser494=) c.1455T>G (p.Ser485=) c.1530T>G (p.Ser510=) n.897T>G n.4200T>G c.1368T>G (p.Ser456=) c.1395T>G (p.Ser465=) c.798T>G (p.Ser266=) c.1503T>G (p.Ser501=) c.1476T>G (p.Ser492=) | |
21 | g.37505526A>C | CA409938634 | DYRK1A | c.1483A>C (p.Thr495Pro) c.1456A>C (p.Thr486Pro) c.1531A>C (p.Thr511Pro) n.898A>C n.4201A>C c.1369A>C (p.Thr457Pro) c.1396A>C (p.Thr466Pro) c.799A>C (p.Thr267Pro) c.1504A>C (p.Thr502Pro) c.1477A>C (p.Thr493Pro) | |
21 | g.37505526A>G | CA409938635 | DYRK1A | c.1483A>G (p.Thr495Ala) c.1456A>G (p.Thr486Ala) c.1531A>G (p.Thr511Ala) n.898A>G n.4201A>G c.1369A>G (p.Thr457Ala) c.1396A>G (p.Thr466Ala) c.799A>G (p.Thr267Ala) c.1504A>G (p.Thr502Ala) c.1477A>G (p.Thr493Ala) | COSMIC COSMIC |
21 | g.37505526A>T | CA409938636 | DYRK1A | c.1483A>T (p.Thr495Ser) c.1456A>T (p.Thr486Ser) c.1531A>T (p.Thr511Ser) n.898A>T n.4201A>T c.1369A>T (p.Thr457Ser) c.1396A>T (p.Thr466Ser) c.799A>T (p.Thr267Ser) c.1504A>T (p.Thr502Ser) c.1477A>T (p.Thr493Ser) | |
21 | g.37505527C>A | CA409938637 | DYRK1A | c.1484C>A (p.Thr495Lys) c.1457C>A (p.Thr486Lys) c.1532C>A (p.Thr511Lys) n.899C>A n.4202C>A c.1370C>A (p.Thr457Lys) c.1397C>A (p.Thr466Lys) c.800C>A (p.Thr267Lys) c.1505C>A (p.Thr502Lys) c.1478C>A (p.Thr493Lys) | gnomAD v4 |
21 | g.37505527C= | CA2388503384 | DYRK1A | c.1484C= (p.Thr495=) c.1457C= (p.Thr486=) c.1532C= (p.Thr511=) n.899C= n.4202C= c.1370C= (p.Thr457=) c.1397C= (p.Thr466=) c.800C= (p.Thr267=) c.1505C= (p.Thr502=) c.1478C= (p.Thr493=) | |
21 | g.37505527C>G | CA409938638 | DYRK1A | c.1484C>G (p.Thr495Arg) c.1457C>G (p.Thr486Arg) c.1532C>G (p.Thr511Arg) n.899C>G n.4202C>G c.1370C>G (p.Thr457Arg) c.1397C>G (p.Thr466Arg) c.800C>G (p.Thr267Arg) c.1505C>G (p.Thr502Arg) c.1478C>G (p.Thr493Arg) | |
21 | g.37505527C>T | CA409938639 | DYRK1A | c.1484C>T (p.Thr495Ile) c.1457C>T (p.Thr486Ile) c.1532C>T (p.Thr511Ile) n.899C>T n.4202C>T c.1370C>T (p.Thr457Ile) c.1397C>T (p.Thr466Ile) c.800C>T (p.Thr267Ile) c.1505C>T (p.Thr502Ile) c.1478C>T (p.Thr493Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37505528A= | CA2388503385 | DYRK1A | c.1485A= (p.Thr495=) c.1458A= (p.Thr486=) c.1533A= (p.Thr511=) n.900A= n.4203A= c.1371A= (p.Thr457=) c.1398A= (p.Thr466=) c.801A= (p.Thr267=) c.1506A= (p.Thr502=) c.1479A= (p.Thr493=) | |
21 | g.37505528A>C | CA512328012 | DYRK1A | c.1485A>C (p.Thr495=) c.1458A>C (p.Thr486=) c.1533A>C (p.Thr511=) n.900A>C n.4203A>C c.1371A>C (p.Thr457=) c.1398A>C (p.Thr466=) c.801A>C (p.Thr267=) c.1506A>C (p.Thr502=) c.1479A>C (p.Thr493=) | ClinVar dbSNP |
21 | g.37505528A>G | CA10023978 | DYRK1A | c.1485A>G (p.Thr495=) c.1458A>G (p.Thr486=) c.1533A>G (p.Thr511=) n.900A>G n.4203A>G c.1371A>G (p.Thr457=) c.1398A>G (p.Thr466=) c.801A>G (p.Thr267=) c.1506A>G (p.Thr502=) c.1479A>G (p.Thr493=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37505528A>T | CA512328013 | DYRK1A | c.1485A>T (p.Thr495=) c.1458A>T (p.Thr486=) c.1533A>T (p.Thr511=) n.900A>T n.4203A>T c.1371A>T (p.Thr457=) c.1398A>T (p.Thr466=) c.801A>T (p.Thr267=) c.1506A>T (p.Thr502=) c.1479A>T (p.Thr493=) | |
21 | g.37505529A>C | CA409938640 | DYRK1A | c.1486A>C (p.Ser496Arg) c.1459A>C (p.Ser487Arg) c.1534A>C (p.Ser512Arg) n.901A>C n.4204A>C c.1372A>C (p.Ser458Arg) c.1399A>C (p.Ser467Arg) c.802A>C (p.Ser268Arg) c.1507A>C (p.Ser503Arg) c.1480A>C (p.Ser494Arg) | |
21 | g.37505529A>G | CA409938641 | DYRK1A | c.1486A>G (p.Ser496Gly) c.1459A>G (p.Ser487Gly) c.1534A>G (p.Ser512Gly) n.901A>G n.4204A>G c.1372A>G (p.Ser458Gly) c.1399A>G (p.Ser467Gly) c.802A>G (p.Ser268Gly) c.1507A>G (p.Ser503Gly) c.1480A>G (p.Ser494Gly) | |
21 | g.37505529A>T | CA409938642 | DYRK1A | c.1486A>T (p.Ser496Cys) c.1459A>T (p.Ser487Cys) c.1534A>T (p.Ser512Cys) n.901A>T n.4204A>T c.1372A>T (p.Ser458Cys) c.1399A>T (p.Ser467Cys) c.802A>T (p.Ser268Cys) c.1507A>T (p.Ser503Cys) c.1480A>T (p.Ser494Cys) | |
21 | g.37505530G>A | CA409938645 | DYRK1A | c.1487G>A (p.Ser496Asn) c.1460G>A (p.Ser487Asn) c.1535G>A (p.Ser512Asn) n.902G>A n.4205G>A c.1373G>A (p.Ser458Asn) c.1400G>A (p.Ser467Asn) c.803G>A (p.Ser268Asn) c.1508G>A (p.Ser503Asn) c.1481G>A (p.Ser494Asn) | |
21 | g.37505530G>C | CA409938644 | DYRK1A | c.1487G>C (p.Ser496Thr) c.1460G>C (p.Ser487Thr) c.1535G>C (p.Ser512Thr) n.902G>C n.4205G>C c.1373G>C (p.Ser458Thr) c.1400G>C (p.Ser467Thr) c.803G>C (p.Ser268Thr) c.1508G>C (p.Ser503Thr) c.1481G>C (p.Ser494Thr) | |
21 | g.37505530G>T | CA409938643 | DYRK1A | c.1487G>T (p.Ser496Ile) c.1460G>T (p.Ser487Ile) c.1535G>T (p.Ser512Ile) n.902G>T n.4205G>T c.1373G>T (p.Ser458Ile) c.1400G>T (p.Ser467Ile) c.803G>T (p.Ser268Ile) c.1508G>T (p.Ser503Ile) c.1481G>T (p.Ser494Ile) | |
21 | g.37505530_37505531delinsGC | CA2388503386 | DYRK1A | c.1487_1488delinsGC (p.Ser496=) c.1460_1461delinsGC (p.Ser487=) c.1535_1536delinsGC (p.Ser512=) n.902_903delinsGC n.4205_4206delinsGC c.1373_1374delinsGC (p.Ser458=) c.1400_1401delinsGC (p.Ser467=) c.803_804delinsGC (p.Ser268=) c.1508_1509delinsGC (p.Ser503=) c.1481_1482delinsGC (p.Ser494=) | |
21 | g.37505531C>A | CA409938646 | DYRK1A | c.1488C>A (p.Ser496Arg) c.1461C>A (p.Ser487Arg) c.1536C>A (p.Ser512Arg) n.903C>A n.4206C>A c.1374C>A (p.Ser458Arg) c.1401C>A (p.Ser467Arg) c.804C>A (p.Ser268Arg) c.1509C>A (p.Ser503Arg) c.1482C>A (p.Ser494Arg) | |
21 | g.37505531C= | CA2388503387 | DYRK1A | c.1488C= (p.Ser496=) c.1461C= (p.Ser487=) c.1536C= (p.Ser512=) n.903C= n.4206C= c.1374C= (p.Ser458=) c.1401C= (p.Ser467=) c.804C= (p.Ser268=) c.1509C= (p.Ser503=) c.1482C= (p.Ser494=) | |
21 | g.37505531C>G | CA409938647 | DYRK1A | c.1488C>G (p.Ser496Arg) c.1461C>G (p.Ser487Arg) c.1536C>G (p.Ser512Arg) n.903C>G n.4206C>G c.1374C>G (p.Ser458Arg) c.1401C>G (p.Ser467Arg) c.804C>G (p.Ser268Arg) c.1509C>G (p.Ser503Arg) c.1482C>G (p.Ser494Arg) | |
21 | g.37505531C>T | CA512328014 | DYRK1A | c.1488C>T (p.Ser496=) c.1461C>T (p.Ser487=) c.1536C>T (p.Ser512=) n.903C>T n.4206C>T c.1374C>T (p.Ser458=) c.1401C>T (p.Ser467=) c.804C>T (p.Ser268=) c.1509C>T (p.Ser503=) c.1482C>T (p.Ser494=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37505534del | CA16602265 | DYRK1A | c.1491del (p.Ala498ProfsTer?) c.1464del (p.Ala489ProfsTer?) c.1539del (p.Ala514ProfsTer?) n.906del n.4209del c.1377del (p.Ala460ProfsTer?) c.1404del (p.Ala469ProfsTer?) c.807del (p.Ala270ProfsTer?) c.1512del (p.Ala505ProfsTer?) c.1485del (p.Ala496ProfsTer?) | ClinVar dbSNP |
21 | g.37505532C>A | CA409938648 | DYRK1A | c.1489C>A (p.Pro497Thr) c.1462C>A (p.Pro488Thr) c.1537C>A (p.Pro513Thr) n.904C>A n.4207C>A c.1375C>A (p.Pro459Thr) c.1402C>A (p.Pro468Thr) c.805C>A (p.Pro269Thr) c.1510C>A (p.Pro504Thr) c.1483C>A (p.Pro495Thr) | gnomAD v4 |
21 | g.37505532C>G | CA409938649 | DYRK1A | c.1489C>G (p.Pro497Ala) c.1462C>G (p.Pro488Ala) c.1537C>G (p.Pro513Ala) n.904C>G n.4207C>G c.1375C>G (p.Pro459Ala) c.1402C>G (p.Pro468Ala) c.805C>G (p.Pro269Ala) c.1510C>G (p.Pro504Ala) c.1483C>G (p.Pro495Ala) | |
21 | g.37505532C>T | CA409938650 | DYRK1A | c.1489C>T (p.Pro497Ser) c.1462C>T (p.Pro488Ser) c.1537C>T (p.Pro513Ser) n.904C>T n.4207C>T c.1375C>T (p.Pro459Ser) c.1402C>T (p.Pro468Ser) c.805C>T (p.Pro269Ser) c.1510C>T (p.Pro504Ser) c.1483C>T (p.Pro495Ser) | |
21 | g.37505533C>A | CA409938651 | DYRK1A | c.1490C>A (p.Pro497His) c.1463C>A (p.Pro488His) c.1538C>A (p.Pro513His) n.905C>A n.4208C>A c.1376C>A (p.Pro459His) c.1403C>A (p.Pro468His) c.806C>A (p.Pro269His) c.1511C>A (p.Pro504His) c.1484C>A (p.Pro495His) | |
21 | g.37505533C>G | CA409938652 | DYRK1A | c.1490C>G (p.Pro497Arg) c.1463C>G (p.Pro488Arg) c.1538C>G (p.Pro513Arg) n.905C>G n.4208C>G c.1376C>G (p.Pro459Arg) c.1403C>G (p.Pro468Arg) c.806C>G (p.Pro269Arg) c.1511C>G (p.Pro504Arg) c.1484C>G (p.Pro495Arg) | |
21 | g.37505533C>T | CA409938653 | DYRK1A | c.1490C>T (p.Pro497Leu) c.1463C>T (p.Pro488Leu) c.1538C>T (p.Pro513Leu) n.905C>T n.4208C>T c.1376C>T (p.Pro459Leu) c.1403C>T (p.Pro468Leu) c.806C>T (p.Pro269Leu) c.1511C>T (p.Pro504Leu) c.1484C>T (p.Pro495Leu) | |
21 | g.37505534C>A | CA512328015 | DYRK1A | c.1491C>A (p.Pro497=) c.1464C>A (p.Pro488=) c.1539C>A (p.Pro513=) n.906C>A n.4209C>A c.1377C>A (p.Pro459=) c.1404C>A (p.Pro468=) c.807C>A (p.Pro269=) c.1512C>A (p.Pro504=) c.1485C>A (p.Pro495=) | ClinVar |
21 | g.37505534C= | CA2388503388 | DYRK1A | c.1491C= (p.Pro497=) c.1464C= (p.Pro488=) c.1539C= (p.Pro513=) n.906C= n.4209C= c.1377C= (p.Pro459=) c.1404C= (p.Pro468=) c.807C= (p.Pro269=) c.1512C= (p.Pro504=) c.1485C= (p.Pro495=) | |
21 | g.37505534C>G | CA512328016 | DYRK1A | c.1491C>G (p.Pro497=) c.1464C>G (p.Pro488=) c.1539C>G (p.Pro513=) n.906C>G n.4209C>G c.1377C>G (p.Pro459=) c.1404C>G (p.Pro468=) c.807C>G (p.Pro269=) c.1512C>G (p.Pro504=) c.1485C>G (p.Pro495=) | |
21 | g.37505534C>T | CA10023979 | DYRK1A | c.1491C>T (p.Pro497=) c.1464C>T (p.Pro488=) c.1539C>T (p.Pro513=) n.906C>T n.4209C>T c.1377C>T (p.Pro459=) c.1404C>T (p.Pro468=) c.807C>T (p.Pro269=) c.1512C>T (p.Pro504=) c.1485C>T (p.Pro495=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
21 | g.37505535G>A | CA409938654 | DYRK1A | c.1492G>A (p.Ala498Thr) c.1465G>A (p.Ala489Thr) c.1540G>A (p.Ala514Thr) n.907G>A n.4210G>A c.1378G>A (p.Ala460Thr) c.1405G>A (p.Ala469Thr) c.808G>A (p.Ala270Thr) c.1513G>A (p.Ala505Thr) c.1486G>A (p.Ala496Thr) | ClinVar dbSNP COSMIC COSMIC COSMIC |
21 | g.37505535G>C | CA409938655 | DYRK1A | c.1492G>C (p.Ala498Pro) c.1465G>C (p.Ala489Pro) c.1540G>C (p.Ala514Pro) n.907G>C n.4210G>C c.1378G>C (p.Ala460Pro) c.1405G>C (p.Ala469Pro) c.808G>C (p.Ala270Pro) c.1513G>C (p.Ala505Pro) c.1486G>C (p.Ala496Pro) | |
21 | g.37505535G= | CA2388503389 | DYRK1A | c.1492G= (p.Ala498=) c.1465G= (p.Ala489=) c.1540G= (p.Ala514=) n.907G= n.4210G= c.1378G= (p.Ala460=) c.1405G= (p.Ala469=) c.808G= (p.Ala270=) c.1513G= (p.Ala505=) c.1486G= (p.Ala496=) | |
21 | g.37505535G>T | CA10023980 | DYRK1A | c.1492G>T (p.Ala498Ser) c.1465G>T (p.Ala489Ser) c.1540G>T (p.Ala514Ser) n.907G>T n.4210G>T c.1378G>T (p.Ala460Ser) c.1405G>T (p.Ala469Ser) c.808G>T (p.Ala270Ser) c.1513G>T (p.Ala505Ser) c.1486G>T (p.Ala496Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37505536C>A | CA409938658 | DYRK1A | c.1493C>A (p.Ala498Asp) c.1466C>A (p.Ala489Asp) c.1541C>A (p.Ala514Asp) n.908C>A n.4211C>A c.1379C>A (p.Ala460Asp) c.1406C>A (p.Ala469Asp) c.809C>A (p.Ala270Asp) c.1514C>A (p.Ala505Asp) c.1487C>A (p.Ala496Asp) | |
21 | g.37505536C>G | CA409938656 | DYRK1A | c.1493C>G (p.Ala498Gly) c.1466C>G (p.Ala489Gly) c.1541C>G (p.Ala514Gly) n.908C>G n.4211C>G c.1379C>G (p.Ala460Gly) c.1406C>G (p.Ala469Gly) c.809C>G (p.Ala270Gly) c.1514C>G (p.Ala505Gly) c.1487C>G (p.Ala496Gly) | |
21 | g.37505536C>T | CA409938657 | DYRK1A | c.1493C>T (p.Ala498Val) c.1466C>T (p.Ala489Val) c.1541C>T (p.Ala514Val) n.908C>T n.4211C>T c.1379C>T (p.Ala460Val) c.1406C>T (p.Ala469Val) c.809C>T (p.Ala270Val) c.1514C>T (p.Ala505Val) c.1487C>T (p.Ala496Val) | |
21 | g.37505537C>A | CA512328017 | DYRK1A | c.1494C>A (p.Ala498=) c.1467C>A (p.Ala489=) c.1542C>A (p.Ala514=) n.909C>A n.4212C>A c.1380C>A (p.Ala460=) c.1407C>A (p.Ala469=) c.810C>A (p.Ala270=) c.1515C>A (p.Ala505=) c.1488C>A (p.Ala496=) | |
21 | g.37505537C>G | CA512328018 | DYRK1A | c.1494C>G (p.Ala498=) c.1467C>G (p.Ala489=) c.1542C>G (p.Ala514=) n.909C>G n.4212C>G c.1380C>G (p.Ala460=) c.1407C>G (p.Ala469=) c.810C>G (p.Ala270=) c.1515C>G (p.Ala505=) c.1488C>G (p.Ala496=) | |
21 | g.37505537C>T | CA512328019 | DYRK1A | c.1494C>T (p.Ala498=) c.1467C>T (p.Ala489=) c.1542C>T (p.Ala514=) n.909C>T n.4212C>T c.1380C>T (p.Ala460=) c.1407C>T (p.Ala469=) c.810C>T (p.Ala270=) c.1515C>T (p.Ala505=) c.1488C>T (p.Ala496=) | |
21 | g.37505538A>C | CA409938659 | DYRK1A | c.1495A>C (p.Met499Leu) c.1468A>C (p.Met490Leu) c.1543A>C (p.Met515Leu) n.910A>C n.4213A>C c.1381A>C (p.Met461Leu) c.1408A>C (p.Met470Leu) c.811A>C (p.Met271Leu) c.1516A>C (p.Met506Leu) c.1489A>C (p.Met497Leu) | gnomAD v4 |
21 | g.37505538A>G | CA409938660 | DYRK1A | c.1495A>G (p.Met499Val) c.1468A>G (p.Met490Val) c.1543A>G (p.Met515Val) n.910A>G n.4213A>G c.1381A>G (p.Met461Val) c.1408A>G (p.Met470Val) c.811A>G (p.Met271Val) c.1516A>G (p.Met506Val) c.1489A>G (p.Met497Val) | |
21 | g.37505538A>T | CA409938661 | DYRK1A | c.1495A>T (p.Met499Leu) c.1468A>T (p.Met490Leu) c.1543A>T (p.Met515Leu) n.910A>T n.4213A>T c.1381A>T (p.Met461Leu) c.1408A>T (p.Met470Leu) c.811A>T (p.Met271Leu) c.1516A>T (p.Met506Leu) c.1489A>T (p.Met497Leu) | |
21 | g.37505539T>A | CA409938662 | DYRK1A | c.1496T>A (p.Met499Lys) c.1469T>A (p.Met490Lys) c.1544T>A (p.Met515Lys) n.911T>A n.4214T>A c.1382T>A (p.Met461Lys) c.1409T>A (p.Met470Lys) c.812T>A (p.Met271Lys) c.1517T>A (p.Met506Lys) c.1490T>A (p.Met497Lys) | |
21 | g.37505539T>C | CA409938663 | DYRK1A | c.1496T>C (p.Met499Thr) c.1469T>C (p.Met490Thr) c.1544T>C (p.Met515Thr) n.911T>C n.4214T>C c.1382T>C (p.Met461Thr) c.1409T>C (p.Met470Thr) c.812T>C (p.Met271Thr) c.1517T>C (p.Met506Thr) c.1490T>C (p.Met497Thr) | dbSNP gnomAD v4 |
21 | g.37505539T>G | CA409938664 | DYRK1A | c.1496T>G (p.Met499Arg) c.1469T>G (p.Met490Arg) c.1544T>G (p.Met515Arg) n.911T>G n.4214T>G c.1382T>G (p.Met461Arg) c.1409T>G (p.Met470Arg) c.812T>G (p.Met271Arg) c.1517T>G (p.Met506Arg) c.1490T>G (p.Met497Arg) | gnomAD v4 |
21 | g.37505539T= | CA2388503390 | DYRK1A | c.1496T= (p.Met499=) c.1469T= (p.Met490=) c.1544T= (p.Met515=) n.911T= n.4214T= c.1382T= (p.Met461=) c.1409T= (p.Met470=) c.812T= (p.Met271=) c.1517T= (p.Met506=) c.1490T= (p.Met497=) | |
21 | g.37505540G>A | CA409938665 | DYRK1A | c.1497G>A (p.Met499Ile) c.1470G>A (p.Met490Ile) c.1545G>A (p.Met515Ile) n.912G>A n.4215G>A c.1383G>A (p.Met461Ile) c.1410G>A (p.Met470Ile) c.813G>A (p.Met271Ile) c.1518G>A (p.Met506Ile) c.1491G>A (p.Met497Ile) | |
21 | g.37505540G>C | CA409938666 | DYRK1A | c.1497G>C (p.Met499Ile) c.1470G>C (p.Met490Ile) c.1545G>C (p.Met515Ile) n.912G>C n.4215G>C c.1383G>C (p.Met461Ile) c.1410G>C (p.Met470Ile) c.813G>C (p.Met271Ile) c.1518G>C (p.Met506Ile) c.1491G>C (p.Met497Ile) | |
21 | g.37505540G>T | CA409938667 | DYRK1A | c.1497G>T (p.Met499Ile) c.1470G>T (p.Met490Ile) c.1545G>T (p.Met515Ile) n.912G>T n.4215G>T c.1383G>T (p.Met461Ile) c.1410G>T (p.Met470Ile) c.813G>T (p.Met271Ile) c.1518G>T (p.Met506Ile) c.1491G>T (p.Met497Ile) | |
21 | g.37505541G>A | CA409938668 | DYRK1A | c.1498G>A (p.Glu500Lys) c.1471G>A (p.Glu491Lys) c.1546G>A (p.Glu516Lys) n.913G>A n.4216G>A c.1384G>A (p.Glu462Lys) c.1411G>A (p.Glu471Lys) c.814G>A (p.Glu272Lys) c.1519G>A (p.Glu507Lys) c.1492G>A (p.Glu498Lys) | |
21 | g.37505541G>C | CA409938669 | DYRK1A | c.1498G>C (p.Glu500Gln) c.1471G>C (p.Glu491Gln) c.1546G>C (p.Glu516Gln) n.913G>C n.4216G>C c.1384G>C (p.Glu462Gln) c.1411G>C (p.Glu471Gln) c.814G>C (p.Glu272Gln) c.1519G>C (p.Glu507Gln) c.1492G>C (p.Glu498Gln) | ClinVar |
21 | g.37505541G= | CA2388503391 | DYRK1A | c.1498G= (p.Glu500=) c.1471G= (p.Glu491=) c.1546G= (p.Glu516=) n.913G= n.4216G= c.1384G= (p.Glu462=) c.1411G= (p.Glu471=) c.814G= (p.Glu272=) c.1519G= (p.Glu507=) c.1492G= (p.Glu498=) | |
21 | g.37505541G>T | CA409938670 | DYRK1A | c.1498G>T (p.Glu500Ter) c.1471G>T (p.Glu491Ter) c.1546G>T (p.Glu516Ter) n.913G>T n.4216G>T c.1384G>T (p.Glu462Ter) c.1411G>T (p.Glu471Ter) c.814G>T (p.Glu272Ter) c.1519G>T (p.Glu507Ter) c.1492G>T (p.Glu498Ter) | dbSNP |
21 | g.37505542A>C | CA409938672 | DYRK1A | c.1499A>C (p.Glu500Ala) c.1472A>C (p.Glu491Ala) c.1547A>C (p.Glu516Ala) n.914A>C n.4217A>C c.1385A>C (p.Glu462Ala) c.1412A>C (p.Glu471Ala) c.815A>C (p.Glu272Ala) c.1520A>C (p.Glu507Ala) c.1493A>C (p.Glu498Ala) | |
21 | g.37505542A>G | CA409938673 | DYRK1A | c.1499A>G (p.Glu500Gly) c.1472A>G (p.Glu491Gly) c.1547A>G (p.Glu516Gly) n.914A>G n.4217A>G c.1385A>G (p.Glu462Gly) c.1412A>G (p.Glu471Gly) c.815A>G (p.Glu272Gly) c.1520A>G (p.Glu507Gly) c.1493A>G (p.Glu498Gly) | |
21 | g.37505542A>T | CA409938671 | DYRK1A | c.1499A>T (p.Glu500Val) c.1472A>T (p.Glu491Val) c.1547A>T (p.Glu516Val) n.914A>T n.4217A>T c.1385A>T (p.Glu462Val) c.1412A>T (p.Glu471Val) c.815A>T (p.Glu272Val) c.1520A>T (p.Glu507Val) c.1493A>T (p.Glu498Val) | COSMIC COSMIC |