| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.37505434C>A | CA409938424 | DYRK1A | c.1391C>A (p.Pro464His) c.1364C>A (p.Pro455His) n.755C>A c.1439C>A (p.Pro480His) n.806C>A n.4109C>A c.1277C>A (p.Pro426His) c.1304C>A (p.Pro435His) c.707C>A (p.Pro236His) c.1412C>A (p.Pro471His) c.1385C>A (p.Pro462His) | |
| 21 | g.37505434C>G | CA409938425 | DYRK1A | c.1391C>G (p.Pro464Arg) c.1364C>G (p.Pro455Arg) n.755C>G c.1439C>G (p.Pro480Arg) n.806C>G n.4109C>G c.1277C>G (p.Pro426Arg) c.1304C>G (p.Pro435Arg) c.707C>G (p.Pro236Arg) c.1412C>G (p.Pro471Arg) c.1385C>G (p.Pro462Arg) | |
| 21 | g.37505434C>T | CA409938426 | DYRK1A | c.1391C>T (p.Pro464Leu) c.1364C>T (p.Pro455Leu) n.755C>T c.1439C>T (p.Pro480Leu) n.806C>T n.4109C>T c.1277C>T (p.Pro426Leu) c.1304C>T (p.Pro435Leu) c.707C>T (p.Pro236Leu) c.1412C>T (p.Pro471Leu) c.1385C>T (p.Pro462Leu) | |
| 21 | g.37505435C>A | CA10023972 | DYRK1A | c.1392C>A (p.Pro464=) c.1365C>A (p.Pro455=) n.756C>A c.1440C>A (p.Pro480=) n.807C>A n.4110C>A c.1278C>A (p.Pro426=) c.1305C>A (p.Pro435=) c.708C>A (p.Pro236=) c.1413C>A (p.Pro471=) c.1386C>A (p.Pro462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37505435C= | CA2388503325 | DYRK1A | c.1392C= (p.Pro464=) c.1365C= (p.Pro455=) n.756C= c.1440C= (p.Pro480=) n.807C= n.4110C= c.1278C= (p.Pro426=) c.1305C= (p.Pro435=) c.708C= (p.Pro236=) c.1413C= (p.Pro471=) c.1386C= (p.Pro462=) | |
| 21 | g.37505435C>G | CA512327958 | DYRK1A | c.1392C>G (p.Pro464=) c.1365C>G (p.Pro455=) n.756C>G c.1440C>G (p.Pro480=) n.807C>G n.4110C>G c.1278C>G (p.Pro426=) c.1305C>G (p.Pro435=) c.708C>G (p.Pro236=) c.1413C>G (p.Pro471=) c.1386C>G (p.Pro462=) | |
| 21 | g.37505435C>T | CA512327959 | DYRK1A | c.1392C>T (p.Pro464=) c.1365C>T (p.Pro455=) n.756C>T c.1440C>T (p.Pro480=) n.807C>T n.4110C>T c.1278C>T (p.Pro426=) c.1305C>T (p.Pro435=) c.708C>T (p.Pro236=) c.1413C>T (p.Pro471=) c.1386C>T (p.Pro462=) | |
| 21 | g.37505436A= | CA2388503327 | DYRK1A | c.1393A= (p.Lys465=) c.1366A= (p.Lys456=) n.757A= c.1441A= (p.Lys481=) n.808A= n.4111A= c.1279A= (p.Lys427=) c.1306A= (p.Lys436=) c.709A= (p.Lys237=) c.1414A= (p.Lys472=) c.1387A= (p.Lys463=) | |
| 21 | g.37505436A>C | CA409938427 | DYRK1A | c.1393A>C (p.Lys465Gln) c.1366A>C (p.Lys456Gln) n.757A>C c.1441A>C (p.Lys481Gln) n.808A>C n.4111A>C c.1279A>C (p.Lys427Gln) c.1306A>C (p.Lys436Gln) c.709A>C (p.Lys237Gln) c.1414A>C (p.Lys472Gln) c.1387A>C (p.Lys463Gln) | dbSNP |
| 21 | g.37505436A>G | CA409938428 | DYRK1A | c.1393A>G (p.Lys465Glu) c.1366A>G (p.Lys456Glu) n.757A>G c.1441A>G (p.Lys481Glu) n.808A>G n.4111A>G c.1279A>G (p.Lys427Glu) c.1306A>G (p.Lys436Glu) c.709A>G (p.Lys237Glu) c.1414A>G (p.Lys472Glu) c.1387A>G (p.Lys463Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37505436A>T | CA409938429 | DYRK1A | c.1393A>T (p.Lys465Ter) c.1366A>T (p.Lys456Ter) n.757A>T c.1441A>T (p.Lys481Ter) n.808A>T n.4111A>T c.1279A>T (p.Lys427Ter) c.1306A>T (p.Lys436Ter) c.709A>T (p.Lys237Ter) c.1414A>T (p.Lys472Ter) c.1387A>T (p.Lys463Ter) | dbSNP |
| 21 | g.37505437A= | CA2388503329 | DYRK1A | c.1394A= (p.Lys465=) c.1367A= (p.Lys456=) n.758A= c.1442A= (p.Lys481=) n.809A= n.4112A= c.1280A= (p.Lys427=) c.1307A= (p.Lys436=) c.710A= (p.Lys237=) c.1415A= (p.Lys472=) c.1388A= (p.Lys463=) | |
| 21 | g.37505437A>C | CA409938431 | DYRK1A | c.1394A>C (p.Lys465Thr) c.1367A>C (p.Lys456Thr) n.758A>C c.1442A>C (p.Lys481Thr) n.809A>C n.4112A>C c.1280A>C (p.Lys427Thr) c.1307A>C (p.Lys436Thr) c.710A>C (p.Lys237Thr) c.1415A>C (p.Lys472Thr) c.1388A>C (p.Lys463Thr) | gnomAD v4 |
| 21 | g.37505437A>G | CA409938432 | DYRK1A | c.1394A>G (p.Lys465Arg) c.1367A>G (p.Lys456Arg) n.758A>G c.1442A>G (p.Lys481Arg) n.809A>G n.4112A>G c.1280A>G (p.Lys427Arg) c.1307A>G (p.Lys436Arg) c.710A>G (p.Lys237Arg) c.1415A>G (p.Lys472Arg) c.1388A>G (p.Lys463Arg) | dbSNP gnomAD v4 |
| 21 | g.37505437A>T | CA409938430 | DYRK1A | c.1394A>T (p.Lys465Ile) c.1367A>T (p.Lys456Ile) n.758A>T c.1442A>T (p.Lys481Ile) n.809A>T n.4112A>T c.1280A>T (p.Lys427Ile) c.1307A>T (p.Lys436Ile) c.710A>T (p.Lys237Ile) c.1415A>T (p.Lys472Ile) c.1388A>T (p.Lys463Ile) | |
| 21 | g.37505438A>C | CA409938434 | DYRK1A | c.1395A>C (p.Lys465Asn) c.1368A>C (p.Lys456Asn) n.759A>C c.1443A>C (p.Lys481Asn) n.810A>C n.4113A>C c.1281A>C (p.Lys427Asn) c.1308A>C (p.Lys436Asn) c.711A>C (p.Lys237Asn) c.1416A>C (p.Lys472Asn) c.1389A>C (p.Lys463Asn) | |
| 21 | g.37505438A>G | CA512327960 | DYRK1A | c.1395A>G (p.Lys465=) c.1368A>G (p.Lys456=) n.759A>G c.1443A>G (p.Lys481=) n.810A>G n.4113A>G c.1281A>G (p.Lys427=) c.1308A>G (p.Lys436=) c.711A>G (p.Lys237=) c.1416A>G (p.Lys472=) c.1389A>G (p.Lys463=) | |
| 21 | g.37505438A>T | CA409938433 | DYRK1A | c.1395A>T (p.Lys465Asn) c.1368A>T (p.Lys456Asn) n.759A>T c.1443A>T (p.Lys481Asn) n.810A>T n.4113A>T c.1281A>T (p.Lys427Asn) c.1308A>T (p.Lys436Asn) c.711A>T (p.Lys237Asn) c.1416A>T (p.Lys472Asn) c.1389A>T (p.Lys463Asn) | |
| 21 | g.37505439A>C | CA409938435 | DYRK1A | c.1396A>C (p.Thr466Pro) c.1369A>C (p.Thr457Pro) n.760A>C c.1444A>C (p.Thr482Pro) n.811A>C n.4114A>C c.1282A>C (p.Thr428Pro) c.1309A>C (p.Thr437Pro) c.712A>C (p.Thr238Pro) c.1417A>C (p.Thr473Pro) c.1390A>C (p.Thr464Pro) | |
| 21 | g.37505439A>G | CA409938436 | DYRK1A | c.1396A>G (p.Thr466Ala) c.1369A>G (p.Thr457Ala) n.760A>G c.1444A>G (p.Thr482Ala) n.811A>G n.4114A>G c.1282A>G (p.Thr428Ala) c.1309A>G (p.Thr437Ala) c.712A>G (p.Thr238Ala) c.1417A>G (p.Thr473Ala) c.1390A>G (p.Thr464Ala) | |
| 21 | g.37505439A>T | CA409938437 | DYRK1A | c.1396A>T (p.Thr466Ser) c.1369A>T (p.Thr457Ser) n.760A>T c.1444A>T (p.Thr482Ser) n.811A>T n.4114A>T c.1282A>T (p.Thr428Ser) c.1309A>T (p.Thr437Ser) c.712A>T (p.Thr238Ser) c.1417A>T (p.Thr473Ser) c.1390A>T (p.Thr464Ser) | |
| 21 | g.37505440C>A | CA409938438 | DYRK1A | c.1397C>A (p.Thr466Asn) c.1370C>A (p.Thr457Asn) n.761C>A c.1445C>A (p.Thr482Asn) n.812C>A n.4115C>A c.1283C>A (p.Thr428Asn) c.1310C>A (p.Thr437Asn) c.713C>A (p.Thr238Asn) c.1418C>A (p.Thr473Asn) c.1391C>A (p.Thr464Asn) | |
| 21 | g.37505440C>G | CA409938439 | DYRK1A | c.1397C>G (p.Thr466Ser) c.1370C>G (p.Thr457Ser) n.761C>G c.1445C>G (p.Thr482Ser) n.812C>G n.4115C>G c.1283C>G (p.Thr428Ser) c.1310C>G (p.Thr437Ser) c.713C>G (p.Thr238Ser) c.1418C>G (p.Thr473Ser) c.1391C>G (p.Thr464Ser) | |
| 21 | g.37505440C>T | CA409938440 | DYRK1A | c.1397C>T (p.Thr466Ile) c.1370C>T (p.Thr457Ile) n.761C>T c.1445C>T (p.Thr482Ile) n.812C>T n.4115C>T c.1283C>T (p.Thr428Ile) c.1310C>T (p.Thr437Ile) c.713C>T (p.Thr238Ile) c.1418C>T (p.Thr473Ile) c.1391C>T (p.Thr464Ile) | |
| 21 | g.37505441T>A | CA512327961 | DYRK1A | c.1398T>A (p.Thr466=) c.1371T>A (p.Thr457=) n.762T>A c.1446T>A (p.Thr482=) n.813T>A n.4116T>A c.1284T>A (p.Thr428=) c.1311T>A (p.Thr437=) c.714T>A (p.Thr238=) c.1419T>A (p.Thr473=) c.1392T>A (p.Thr464=) | |
| 21 | g.37505441T>C | CA512327962 | DYRK1A | c.1398T>C (p.Thr466=) c.1371T>C (p.Thr457=) n.762T>C c.1446T>C (p.Thr482=) n.813T>C n.4116T>C c.1284T>C (p.Thr428=) c.1311T>C (p.Thr437=) c.714T>C (p.Thr238=) c.1419T>C (p.Thr473=) c.1392T>C (p.Thr464=) | |
| 21 | g.37505441T>G | CA512327963 | DYRK1A | c.1398T>G (p.Thr466=) c.1371T>G (p.Thr457=) n.762T>G c.1446T>G (p.Thr482=) n.813T>G n.4116T>G c.1284T>G (p.Thr428=) c.1311T>G (p.Thr437=) c.714T>G (p.Thr238=) c.1419T>G (p.Thr473=) c.1392T>G (p.Thr464=) | gnomAD v4 |
| 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=) |