Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
21g.37505444_37505445insGCA2695223219DYRK1Ac.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)
21g.37505445A=CA2388503338DYRK1Ac.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=)
21g.37505445A>CCA409938445DYRK1Ac.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)
21g.37505445A>GCA409938446DYRK1Ac.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)
21g.37505445A>TCA409938444DYRK1Ac.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
21g.37505446T>ACA409938447DYRK1Ac.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)
21g.37505446T>CCA409938448DYRK1Ac.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)
21g.37505446T>GCA409938449DYRK1Ac.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)
21g.37505447T>ACA512327969DYRK1Ac.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=)
21g.37505447T>CCA512327968DYRK1Ac.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=)
21g.37505447T>GCA409938450DYRK1Ac.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)
21g.37505447_37505448delinsTCCA2388503340DYRK1Ac.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=)
21g.37505448delCA645373286DYRK1Ac.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
21g.37505448C>ACA409938453DYRK1Ac.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)
21g.37505448C=CA2388503344DYRK1Ac.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=)
21g.37505448C>GCA409938452DYRK1Ac.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)
21g.37505448C>TCA409938451DYRK1Ac.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
21g.37505449A>CCA409938454DYRK1Ac.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)
21g.37505449A>GCA409938455DYRK1Ac.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)
21g.37505449A>TCA409938456DYRK1Ac.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
21g.37505450A=CA2388503346DYRK1Ac.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=)
21g.37505450A>CCA409938457DYRK1Ac.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)
21g.37505450A>GCA10023973DYRK1Ac.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
21g.37505450A>TCA409938458DYRK1Ac.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)
21g.37505451C>ACA409938461DYRK1Ac.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
21g.37505451C=CA2388503348DYRK1Ac.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=)
21g.37505451C>GCA409938460DYRK1Ac.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
21g.37505451C>TCA409938459DYRK1Ac.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)
21g.37505452C>ACA409938462DYRK1Ac.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)
21g.37505452C=CA2388503349DYRK1Ac.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=)
21g.37505452C>GCA409938464DYRK1Ac.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)
21g.37505452C>TCA409938463DYRK1Ac.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
21g.37505453T>ACA512327970DYRK1Ac.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=)
21g.37505453T>CCA512327971DYRK1Ac.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
21g.37505453T>GCA512327972DYRK1Ac.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=)
21g.37505454T>ACA409938465DYRK1Ac.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)
21g.37505454T>CCA409938466DYRK1Ac.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
21g.37505454T>GCA409938467DYRK1Ac.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)
21g.37505454T=CA2388503350DYRK1Ac.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=)
21g.37505455A=CA2388503351DYRK1Ac.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=)
21g.37505455A>CCA409938468DYRK1Ac.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)
21g.37505455A>GCA10023974DYRK1Ac.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
21g.37505455A>TCA409938469DYRK1Ac.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
21g.37505456T>ACA409938470DYRK1Ac.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)
21g.37505456T>CCA512327973DYRK1Ac.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
21g.37505456T>GCA409938471DYRK1Ac.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)
21g.37505456T=CA2388503352DYRK1Ac.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=)
21g.37505457T>ACA409938472DYRK1Ac.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)
21g.37505457T>CCA409938473DYRK1Ac.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
21g.37505457T>GCA409938474DYRK1Ac.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)
21g.37505457T=CA2388503353DYRK1Ac.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=)
21g.37505458A>CCA409938477DYRK1Ac.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)
21g.37505458A>GCA409938476DYRK1Ac.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)
21g.37505458A>TCA409938475DYRK1Ac.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)
21g.37505459T>ACA409938478DYRK1Ac.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)
21g.37505459T>CCA10023975DYRK1Ac.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
21g.37505459T>GCA409938479DYRK1Ac.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)
21g.37505459T=CA2388503354DYRK1Ac.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=)
21g.37505460G>ACA409938480DYRK1Ac.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)
21g.37505460G>CCA409938481DYRK1Ac.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)
21g.37505460G>TCA409938482DYRK1Ac.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)
21g.37505461C>ACA409938483DYRK1Ac.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)
21g.37505461C>GCA409938484DYRK1Ac.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)
21g.37505461C>TCA409938485DYRK1Ac.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)
21g.37505462T>ACA512327974DYRK1Ac.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=)
21g.37505462T>CCA512327975DYRK1Ac.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=)
21g.37505462T>GCA512327976DYRK1Ac.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=)
21g.37505463C>ACA409938486DYRK1Ac.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)
21g.37505463C=CA2388503357DYRK1Ac.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=)
21g.37505463C>GCA409938487DYRK1Ac.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
21g.37505463C>TCA320464660DYRK1Ac.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
21g.37505464T>ACA409938488DYRK1Ac.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)
21g.37505464T>CCA409938490DYRK1Ac.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)
21g.37505464T>GCA409938489DYRK1Ac.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)
21g.37505465G>ACA512327977DYRK1Ac.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=)
21g.37505465G>CCA512327978DYRK1Ac.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
21g.37505465G>TCA512327979DYRK1Ac.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=)
21g.37505466C>ACA409938491DYRK1Ac.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)
21g.37505466C=CA2388503359DYRK1Ac.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=)
21g.37505466C>GCA409938493DYRK1Ac.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)
21g.37505466C>TCA409938492DYRK1Ac.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
21g.37505467A>CCA409938494DYRK1Ac.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)
21g.37505467A>GCA409938496DYRK1Ac.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)
21g.37505467A>TCA409938495DYRK1Ac.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)
21g.37505468G>ACA512327980DYRK1Ac.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=)
21g.37505468G>CCA409938497DYRK1Ac.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)
21g.37505468G>TCA409938498DYRK1Ac.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)
21g.37505469C>ACA409938499DYRK1Ac.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)
21g.37505469C>GCA409938500DYRK1Ac.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)
21g.37505469C>TCA409938501DYRK1Ac.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)
21g.37505470A>CCA409938502DYRK1Ac.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)
21g.37505470A>GCA409938503DYRK1Ac.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)
21g.37505470A>TCA409938504DYRK1Ac.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)
21g.37505471C>ACA409938505DYRK1Ac.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)
21g.37505471C=CA2388503360DYRK1Ac.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=)
21g.37505471C>GCA409938506DYRK1Ac.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)
21g.37505471C>TCA16608061DYRK1Ac.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
21g.37505472A>CCA409938507DYRK1Ac.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)
21g.37505472A>GCA409938508DYRK1Ac.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)
21g.37505472A>TCA409938509DYRK1Ac.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)
21g.37505473G>ACA409938511DYRK1Ac.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)
21g.37505473G>CCA320464662DYRK1Ac.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
21g.37505473G=CA2388503362DYRK1Ac.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=)
21g.37505473G>TCA409938510DYRK1Ac.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)
21g.37505474T>ACA409938512DYRK1Ac.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)
21g.37505474T>CCA512327981DYRK1Ac.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=)
21g.37505474T>GCA409938513DYRK1Ac.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)
21g.37505476delCA2695223220DYRK1Ac.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?)
21g.37505475T>ACA409938514DYRK1Ac.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)
21g.37505475T>CCA409938515DYRK1Ac.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)
21g.37505475T>GCA409938516DYRK1Ac.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)
21g.37505476T>ACA409938517DYRK1Ac.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)
21g.37505476T>CCA320464667DYRK1Ac.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
21g.37505476T>GCA409938518DYRK1Ac.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)
21g.37505476T=CA2388503364DYRK1Ac.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=)
21g.37505477C>ACA409938519DYRK1Ac.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)
21g.37505477C>GCA409938520DYRK1Ac.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)
21g.37505477C>TCA512327982DYRK1Ac.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=)
21g.37505478T>ACA409938521DYRK1Ac.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)
21g.37505478T>CCA409938522DYRK1Ac.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)
21g.37505478T>GCA409938523DYRK1Ac.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)
21g.37505479T>ACA409938525DYRK1Ac.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)
21g.37505479T>CCA409938526DYRK1Ac.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)
21g.37505479T>GCA409938524DYRK1Ac.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)
21g.37505480C>ACA409938527DYRK1Ac.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)
21g.37505480C>GCA409938528DYRK1Ac.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)
21g.37505480C>TCA512327983DYRK1Ac.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=)
21g.37505481A=CA2388503366DYRK1Ac.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=)
21g.37505481A>CCA409938529DYRK1Ac.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)
21g.37505481A>GCA409938530DYRK1Ac.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)
21g.37505481A>TCA409938531DYRK1Ac.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
21g.37505482A>CCA409938532DYRK1Ac.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)
21g.37505482A>GCA409938533DYRK1Ac.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
21g.37505482A>TCA409938534DYRK1Ac.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)
21g.37505483G>ACA512327984DYRK1Ac.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=)
21g.37505483G>CCA409938535DYRK1Ac.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)
21g.37505483G>TCA409938536DYRK1Ac.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)
21g.37505484A=CA2388503368DYRK1Ac.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=)
21g.37505484A>CCA409938537DYRK1Ac.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)
21g.37505484A>GCA409938538DYRK1Ac.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)
21g.37505484A>TCA409938539DYRK1Ac.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
21g.37505485A>CCA409938540DYRK1Ac.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)
21g.37505485A>GCA409938542DYRK1Ac.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)
21g.37505485A>TCA409938541DYRK1Ac.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)
21g.37505486A=CA2388503370DYRK1Ac.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=)
21g.37505486A>CCA409938543DYRK1Ac.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)
21g.37505486A>GCA10023976DYRK1Ac.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
21g.37505486A>TCA409938544DYRK1Ac.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)
21g.37505487A>CCA409938545DYRK1Ac.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)
21g.37505487A>GCA409938546DYRK1Ac.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)
21g.37505487A>TCA409938547DYRK1Ac.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)
21g.37505488C>ACA409938548DYRK1Ac.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)
21g.37505488C>GCA409938549DYRK1Ac.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)
21g.37505488C>TCA409938550DYRK1Ac.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)
21g.37505489A=CA2388503372DYRK1Ac.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=)
21g.37505489A>CCA512327985DYRK1Ac.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=)
21g.37505489A>GCA512327986DYRK1Ac.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
21g.37505489A>TCA512327987DYRK1Ac.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=)
21g.37505490G>ACA409938553DYRK1Ac.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)
21g.37505490G>CCA409938552DYRK1Ac.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)
21g.37505490G>TCA409938551DYRK1Ac.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)
21g.37505491C>ACA409938554DYRK1Ac.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)
21g.37505491C>GCA409938556DYRK1Ac.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)
21g.37505491C>TCA409938555DYRK1Ac.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)
21g.37505492T>ACA512327988DYRK1Ac.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
21g.37505492T>CCA512327990DYRK1Ac.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=)
21g.37505492T>GCA512327989DYRK1Ac.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=)
21g.37505493G>ACA409938557DYRK1Ac.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)
21g.37505493G>CCA409938558DYRK1Ac.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)
21g.37505493G>TCA409938559DYRK1Ac.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)
21g.37505494A>CCA409938560DYRK1Ac.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)
21g.37505494A>GCA409938561DYRK1Ac.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)
21g.37505494A>TCA409938562DYRK1Ac.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)
21g.37505495T>ACA409938563DYRK1Ac.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)
21g.37505495T>CCA512327991DYRK1Ac.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=)
21g.37505495T>GCA409938564DYRK1Ac.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)
21g.37505496G>ACA409938565DYRK1Ac.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)
21g.37505496G>CCA409938566DYRK1Ac.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)
21g.37505496G=CA2388503373DYRK1Ac.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=)
21g.37505496G>TCA409938567DYRK1Ac.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
21g.37505497A>CCA409938570DYRK1Ac.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)
21g.37505497A>GCA409938569DYRK1Ac.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)
21g.37505497A>TCA409938568DYRK1Ac.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)
21g.37505498A>CCA409938571DYRK1Ac.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)
21g.37505498A>GCA512327992DYRK1Ac.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=)
21g.37505498A>TCA409938572DYRK1Ac.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)
21g.37505499G>ACA409938573DYRK1Ac.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)
21g.37505499G>CCA409938574DYRK1Ac.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)
21g.37505499G>TCA409938575DYRK1Ac.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)
21g.37505500G>ACA409938576DYRK1Ac.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
21g.37505500G>CCA409938577DYRK1Ac.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)
21g.37505500G=CA2388503375DYRK1Ac.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=)
21g.37505500G>TCA409938578DYRK1Ac.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)
21g.37505501T>ACA512327993DYRK1Ac.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=)
21g.37505501T>CCA512327994DYRK1Ac.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
21g.37505501T>GCA512327995DYRK1Ac.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=)
21g.37505501T=CA2388503377DYRK1Ac.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=)
21g.37505502A>CCA409938579DYRK1Ac.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)
21g.37505502A>GCA409938580DYRK1Ac.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)
21g.37505502A>TCA409938581DYRK1Ac.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)
21g.37505503C>ACA409938584DYRK1Ac.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)
21g.37505503C>GCA409938583DYRK1Ac.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)
21g.37505503C>TCA409938582DYRK1Ac.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
21g.37505504A>CCA512327996DYRK1Ac.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=)
21g.37505504A>GCA512327998DYRK1Ac.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=)
21g.37505504A>TCA512327997DYRK1Ac.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=)
21g.37505505A>CCA409938585DYRK1Ac.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)
21g.37505505A>GCA409938586DYRK1Ac.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)
21g.37505505A>TCA409938587DYRK1Ac.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)
21g.37505506A=CA2388503378DYRK1Ac.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=)
21g.37505506A>CCA409938588DYRK1Ac.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
21g.37505506A>GCA409938589DYRK1Ac.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)
21g.37505506A>TCA409938590DYRK1Ac.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)
21g.37505507T>ACA409938592DYRK1Ac.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)
21g.37505507T>CCA512327999DYRK1Ac.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=)
21g.37505507T>GCA409938591DYRK1Ac.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)
21g.37505508A>CCA409938593DYRK1Ac.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)
21g.37505508A>GCA409938594DYRK1Ac.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)
21g.37505508A>TCA409938595DYRK1Ac.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)
21g.37505509C>ACA409938596DYRK1Ac.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)
21g.37505509C>GCA409938597DYRK1Ac.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)
21g.37505509C>TCA409938598DYRK1Ac.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)
21g.37505510A>CCA512328000DYRK1Ac.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=)
21g.37505510A>GCA512328001DYRK1Ac.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=)
21g.37505510A>TCA512328002DYRK1Ac.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=)
21g.37505511A>CCA409938599DYRK1Ac.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)
21g.37505511A>GCA409938601DYRK1Ac.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)
21g.37505511A>TCA409938600DYRK1Ac.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)
21g.37505512G>ACA409938602DYRK1Ac.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)
21g.37505512G>CCA409938603DYRK1Ac.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)
21g.37505512G>TCA409938604DYRK1Ac.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)
21g.37505513T>ACA409938605DYRK1Ac.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)
21g.37505513T>CCA512328003DYRK1Ac.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=)
21g.37505513T>GCA409938606DYRK1Ac.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)
21g.37505514A=CA2388503380DYRK1Ac.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=)
21g.37505514A>CCA409938607DYRK1Ac.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
21g.37505514A>GCA409938608DYRK1Ac.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)
21g.37505514A>TCA409938609DYRK1Ac.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)
21g.37505514_37505516delinsAATCA2388503379DYRK1Ac.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=)
21g.37505515A>CCA409938610DYRK1Ac.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
21g.37505515A>GCA409938611DYRK1Ac.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
21g.37505515A>TCA409938612DYRK1Ac.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)
21g.37505515_37505516delinsTCTACACA16621005DYRK1Ac.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
21g.37505516T>ACA409938614DYRK1Ac.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)
21g.37505516T>CCA512328004DYRK1Ac.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=)
21g.37505516T>GCA409938613DYRK1Ac.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)
21g.37505517A>CCA409938615DYRK1Ac.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)
21g.37505517A>GCA409938617DYRK1Ac.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
21g.37505517A>TCA409938616DYRK1Ac.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)
21g.37505518G>ACA409938618DYRK1Ac.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)
21g.37505518G>CCA409938620DYRK1Ac.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)
21g.37505518G>TCA409938619DYRK1Ac.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)
21g.37505519T>ACA409938621DYRK1Ac.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)
21g.37505519T>CCA512328005DYRK1Ac.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=)
21g.37505519T>GCA409938622DYRK1Ac.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)
21g.37505520G>ACA409938623DYRK1Ac.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
21g.37505520G>CCA409938624DYRK1Ac.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)
21g.37505520G=CA2388503381DYRK1Ac.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=)
21g.37505520G>TCA409938625DYRK1Ac.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)
21g.37505521T>ACA409938626DYRK1Ac.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)
21g.37505521T>CCA409938627DYRK1Ac.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
21g.37505521T>GCA409938628DYRK1Ac.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)
21g.37505522A>CCA512328006DYRK1Ac.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
21g.37505522A>GCA512328007DYRK1Ac.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
21g.37505522A>TCA512328008DYRK1Ac.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=)
21g.37505523T>ACA10023977DYRK1Ac.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
21g.37505523T>CCA409938629DYRK1Ac.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)
21g.37505523T>GCA409938630DYRK1Ac.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)
21g.37505523T=CA2388503382DYRK1Ac.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=)
21g.37505524C>ACA409938633DYRK1Ac.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)
21g.37505524C=CA2388503383DYRK1Ac.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=)
21g.37505524C>GCA409938631DYRK1Ac.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
21g.37505524C>TCA409938632DYRK1Ac.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
21g.37505525T>ACA512328009DYRK1Ac.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=)
21g.37505525T>CCA512328010DYRK1Ac.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=)
21g.37505525T>GCA512328011DYRK1Ac.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=)
21g.37505526A>CCA409938634DYRK1Ac.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)
21g.37505526A>GCA409938635DYRK1Ac.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
21g.37505526A>TCA409938636DYRK1Ac.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)
21g.37505527C>ACA409938637DYRK1Ac.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
21g.37505527C=CA2388503384DYRK1Ac.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=)
21g.37505527C>GCA409938638DYRK1Ac.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)
21g.37505527C>TCA409938639DYRK1Ac.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
21g.37505528A=CA2388503385DYRK1Ac.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=)
21g.37505528A>CCA512328012DYRK1Ac.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
21g.37505528A>GCA10023978DYRK1Ac.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
21g.37505528A>TCA512328013DYRK1Ac.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=)
21g.37505529A>CCA409938640DYRK1Ac.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)
21g.37505529A>GCA409938641DYRK1Ac.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)
21g.37505529A>TCA409938642DYRK1Ac.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)
21g.37505530G>ACA409938645DYRK1Ac.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)
21g.37505530G>CCA409938644DYRK1Ac.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)
21g.37505530G>TCA409938643DYRK1Ac.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)
21g.37505530_37505531delinsGCCA2388503386DYRK1Ac.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=)
21g.37505531C>ACA409938646DYRK1Ac.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)
21g.37505531C=CA2388503387DYRK1Ac.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=)
21g.37505531C>GCA409938647DYRK1Ac.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)
21g.37505531C>TCA512328014DYRK1Ac.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
21g.37505534delCA16602265DYRK1Ac.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
21g.37505532C>ACA409938648DYRK1Ac.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
21g.37505532C>GCA409938649DYRK1Ac.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)
21g.37505532C>TCA409938650DYRK1Ac.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)
21g.37505533C>ACA409938651DYRK1Ac.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)
21g.37505533C>GCA409938652DYRK1Ac.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)
21g.37505533C>TCA409938653DYRK1Ac.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)
21g.37505534C>ACA512328015DYRK1Ac.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
21g.37505534C=CA2388503388DYRK1Ac.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=)
21g.37505534C>GCA512328016DYRK1Ac.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=)
21g.37505534C>TCA10023979DYRK1Ac.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
21g.37505535G>ACA409938654DYRK1Ac.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
21g.37505535G>CCA409938655DYRK1Ac.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)
21g.37505535G=CA2388503389DYRK1Ac.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=)
21g.37505535G>TCA10023980DYRK1Ac.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
21g.37505536C>ACA409938658DYRK1Ac.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)
21g.37505536C>GCA409938656DYRK1Ac.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)
21g.37505536C>TCA409938657DYRK1Ac.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)
21g.37505537C>ACA512328017DYRK1Ac.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=)
21g.37505537C>GCA512328018DYRK1Ac.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=)
21g.37505537C>TCA512328019DYRK1Ac.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=)
21g.37505538A>CCA409938659DYRK1Ac.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
21g.37505538A>GCA409938660DYRK1Ac.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)
21g.37505538A>TCA409938661DYRK1Ac.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)
21g.37505539T>ACA409938662DYRK1Ac.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)
21g.37505539T>CCA409938663DYRK1Ac.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
21g.37505539T>GCA409938664DYRK1Ac.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
21g.37505539T=CA2388503390DYRK1Ac.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=)
21g.37505540G>ACA409938665DYRK1Ac.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)
21g.37505540G>CCA409938666DYRK1Ac.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)
21g.37505540G>TCA409938667DYRK1Ac.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)
21g.37505541G>ACA409938668DYRK1Ac.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)
21g.37505541G>CCA409938669DYRK1Ac.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
21g.37505541G=CA2388503391DYRK1Ac.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=)
21g.37505541G>TCA409938670DYRK1Ac.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
21g.37505542A>CCA409938672DYRK1Ac.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)
21g.37505542A>GCA409938673DYRK1Ac.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)
21g.37505542A>TCA409938671DYRK1Ac.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

Number of alleles fetched