NM_001347721.2(DYRK1A):c.1649G>A (p.Arg550His)
|
rs144190333
|
0.00014
|
NM_001347721.2(DYRK1A):c.1874A>G (p.Asn625Ser)
|
rs370090236
|
0.00011
|
NM_001347721.2(DYRK1A):c.1529C>T (p.Ser510Leu)
|
rs556482236
|
0.00007
|
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr)
|
rs200808105
|
0.00006
|
NM_001347721.2(DYRK1A):c.1240C>T (p.Leu414Phe)
|
rs202018285
|
0.00005
|
NM_001347721.2(DYRK1A):c.300+3A>G
|
rs1241074832
|
0.00005
|
NM_001347721.2(DYRK1A):c.1509G>A (p.Ser503=)
|
rs763907769
|
0.00004
|
NM_001347721.2(DYRK1A):c.2020C>T (p.Arg674Cys)
|
rs201554841
|
0.00004
|
NM_001347721.2(DYRK1A):c.2093A>G (p.Asn698Ser)
|
rs151303959
|
0.00004
|
NM_001347721.2(DYRK1A):c.426C>T (p.Asn142=)
|
rs374444950
|
0.00004
|
NM_001347721.2(DYRK1A):c.10+6T>G
|
rs1057522660
|
0.00003
|
NM_001347721.2(DYRK1A):c.1380A>G (p.Gln460=)
|
rs370029826
|
0.00003
|
NM_001347721.2(DYRK1A):c.349G>A (p.Asp117Asn)
|
rs959419590
|
0.00003
|
NM_001347721.2(DYRK1A):c.638-3C>T
|
rs779620187
|
0.00003
|
NM_001347721.2(DYRK1A):c.1004T>C (p.Met335Thr)
|
rs746978297
|
0.00002
|
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met)
|
rs759524625
|
0.00002
|
NM_001347721.2(DYRK1A):c.1564C>T (p.Pro522Ser)
|
rs757603372
|
0.00002
|
NM_001347721.2(DYRK1A):c.1636A>T (p.Ser546Cys)
|
rs199807626
|
0.00002
|
NM_001347721.2(DYRK1A):c.1705A>G (p.Thr569Ala)
|
rs774075762
|
0.00002
|
NM_001347721.2(DYRK1A):c.-1G>A
|
rs780371719
|
0.00001
|
NM_001347721.2(DYRK1A):c.1105G>A (p.Gly369Ser)
|
rs758421024
|
0.00001
|
NM_001347721.2(DYRK1A):c.1118C>T (p.Ala373Val)
|
rs1064796623
|
0.00001
|
NM_001347721.2(DYRK1A):c.1229G>C (p.Gly410Ala)
|
rs978604744
|
0.00001
|
NM_001347721.2(DYRK1A):c.1264A>G (p.Thr422Ala)
|
rs1459549692
|
0.00001
|
NM_001347721.2(DYRK1A):c.1320C>T (p.Tyr440=)
|
rs1336115331
|
0.00001
|
NM_001347721.2(DYRK1A):c.1375A>T (p.Ile459Phe)
|
rs1263156590
|
0.00001
|
NM_001347721.2(DYRK1A):c.1403G>C (p.Ser468Thr)
|
rs372217349
|
0.00001
|
NM_001347721.2(DYRK1A):c.1481A>C (p.Gln494Pro)
|
rs2053571059
|
0.00001
|
NM_001347721.2(DYRK1A):c.1510T>A (p.Ser504Thr)
|
rs1447174732
|
0.00001
|
NM_001347721.2(DYRK1A):c.1541A>T (p.Asn514Ile)
|
rs765046647
|
0.00001
|
NM_001347721.2(DYRK1A):c.154C>G (p.Gln52Glu)
|
rs1555977083
|
0.00001
|
NM_001347721.2(DYRK1A):c.1555C>T (p.Arg519Trp)
|
rs1448604709
|
0.00001
|
NM_001347721.2(DYRK1A):c.1642C>G (p.Gln548Glu)
|
rs1131692019
|
0.00001
|
NM_001347721.2(DYRK1A):c.1732A>G (p.Thr578Ala)
|
rs368101780
|
0.00001
|
NM_001347721.2(DYRK1A):c.1783A>G (p.Asn595Asp)
|
rs1468488019
|
0.00001
|
NM_001347721.2(DYRK1A):c.1819C>G (p.His607Asp)
|
rs760957728
|
0.00001
|
NM_001347721.2(DYRK1A):c.187C>G (p.Gln63Glu)
|
rs373178770
|
0.00001
|
NM_001347721.2(DYRK1A):c.1883C>T (p.Thr628Met)
|
rs142149555
|
0.00001
|
NM_001347721.2(DYRK1A):c.1947G>A (p.Leu649=)
|
rs767266728
|
0.00001
|
NM_001347721.2(DYRK1A):c.2011T>C (p.Tyr671His)
|
rs1019836603
|
0.00001
|
NM_001347721.2(DYRK1A):c.208-27G>A
|
rs2052469601
|
0.00001
|
NM_001347721.2(DYRK1A):c.2085C>G (p.Val695=)
|
rs372748919
|
0.00001
|
NM_001347721.2(DYRK1A):c.2096C>A (p.Pro699His)
|
rs910495553
|
0.00001
|
NM_001347721.2(DYRK1A):c.2098C>T (p.Arg700Cys)
|
rs781697806
|
0.00001
|
NM_001347721.2(DYRK1A):c.2099G>A (p.Arg700His)
|
rs374771208
|
0.00001
|
NM_001347721.2(DYRK1A):c.2150C>G (p.Thr717Arg)
|
rs1317673533
|
0.00001
|
NM_001347721.2(DYRK1A):c.2189T>C (p.Met730Thr)
|
rs764653772
|
0.00001
|
NM_001347721.2(DYRK1A):c.2261C>T (p.Ser754Leu)
|
rs771118827
|
0.00001
|
NM_001347721.2(DYRK1A):c.301-8C>T
|
rs991072716
|
0.00001
|
NM_001347721.2(DYRK1A):c.382A>G (p.Asn128Asp)
|
rs2052608605
|
0.00001
|
NM_001347721.2(DYRK1A):c.407A>G (p.Tyr136Cys)
|
rs1569363929
|
0.00001
|
NM_001347721.2(DYRK1A):c.446G>A (p.Arg149His)
|
rs756654282
|
0.00001
|
NM_001347721.2(DYRK1A):c.587G>A (p.Arg196Gln)
|
rs757789128
|
0.00001
|
NM_001347721.2(DYRK1A):c.649C>T (p.Arg217Cys)
|
rs1462221945
|
0.00001
|
NM_001347721.2(DYRK1A):c.792G>C (p.Leu264=)
|
rs2053042241
|
0.00001
|
NM_001347721.2(DYRK1A):c.803C>T (p.Ala268Val)
|
rs1469221964
|
0.00001
|
NM_001347721.2(DYRK1A):c.93T>A (p.Ala31=)
|
rs776043893
|
0.00001
|
GRCh37/hg19 21q22.13(chr21:38789355-38812821)x1
|
|
|
GRCh37/hg19 21q22.13(chr21:38808582-38918599)x3
|
|
|
NC_000021.8:g.(?_38791602)_(38888679_?)dup
|
|
|
NC_000021.8:g.(?_38792657)_(38884854_?)dup
|
|
|
NM_001347721.2(DYRK1A):c.-76-13T>A
|
|
|
NM_001347721.2(DYRK1A):c.10+3G>C
|
rs2050442348
|
|
NM_001347721.2(DYRK1A):c.1001A>G (p.Asp334Gly)
|
rs1601280230
|
|
NM_001347721.2(DYRK1A):c.1001A>T (p.Asp334Val)
|
rs1601280230
|
|
NM_001347721.2(DYRK1A):c.1022T>A (p.Ile341Asn)
|
rs2148619737
|
|
NM_001347721.2(DYRK1A):c.103C>T (p.Pro35Ser)
|
rs968549141
|
|
NM_001347721.2(DYRK1A):c.1048C>G (p.Pro350Ala)
|
|
|
NM_001347721.2(DYRK1A):c.1071+1_1071+2dup
|
|
|
NM_001347721.2(DYRK1A):c.1071+4A>C
|
|
|
NM_001347721.2(DYRK1A):c.1072-3C>G
|
|
|
NM_001347721.2(DYRK1A):c.1072-6A>G
|
|
|
NM_001347721.2(DYRK1A):c.1072G>A (p.Val358Ile)
|
|
|
NM_001347721.2(DYRK1A):c.11-15C>G
|
rs1057521693
|
|
NM_001347721.2(DYRK1A):c.1106G>T (p.Gly369Val)
|
rs1384236840
|
|
NM_001347721.2(DYRK1A):c.1111C>T (p.Pro371Ser)
|
rs1222898147
|
|
NM_001347721.2(DYRK1A):c.1127T>C (p.Leu376Pro)
|
rs1486953271
|
|
NM_001347721.2(DYRK1A):c.1135G>A (p.Ala379Thr)
|
|
|
NM_001347721.2(DYRK1A):c.1136C>T (p.Ala379Val)
|
|
|
NM_001347721.2(DYRK1A):c.1145C>G (p.Ala382Gly)
|
rs747860415
|
|
NM_001347721.2(DYRK1A):c.1158T>G (p.Phe386Leu)
|
rs2053264281
|
|
NM_001347721.2(DYRK1A):c.1171G>C (p.Asp391His)
|
rs764259930
|
|
NM_001347721.2(DYRK1A):c.1177A>G (p.Thr393Ala)
|
|
|
NM_001347721.2(DYRK1A):c.117G>T (p.Gln39His)
|
rs2148556605
|
|
NM_001347721.2(DYRK1A):c.1183A>T (p.Asn395Tyr)
|
rs2148627786
|
|
NM_001347721.2(DYRK1A):c.1198A>G (p.Lys400Glu)
|
|
|
NM_001347721.2(DYRK1A):c.1202A>G (p.Asp401Gly)
|
rs2053265788
|
|
NM_001347721.2(DYRK1A):c.1205G>A (p.Gly402Glu)
|
rs1131691453
|
|
NM_001347721.2(DYRK1A):c.1210C>T (p.Arg404Trp)
|
rs918289557
|
|
NM_001347721.2(DYRK1A):c.1211G>C (p.Arg404Pro)
|
rs770415010
|
|
NM_001347721.2(DYRK1A):c.1215G>C (p.Glu405Asp)
|
rs369805539
|
|
NM_001347721.2(DYRK1A):c.1217A>G (p.Tyr406Cys)
|
rs2053560557
|
|
NM_001347721.2(DYRK1A):c.121A>G (p.Ser41Gly)
|
rs2052270177
|
|
NM_001347721.2(DYRK1A):c.122G>C (p.Ser41Thr)
|
|
|
NM_001347721.2(DYRK1A):c.1230A>G (p.Gly410=)
|
|
|
NM_001347721.2(DYRK1A):c.1234C>T (p.Arg412Cys)
|
|
|
NM_001347721.2(DYRK1A):c.127C>A (p.Arg43Ser)
|
rs367984873
|
|
NM_001347721.2(DYRK1A):c.1286G>A (p.Arg429His)
|
rs1379071994
|
|
NM_001347721.2(DYRK1A):c.1289C>A (p.Ala430Asp)
|
|
|
NM_001347721.2(DYRK1A):c.128G>C (p.Arg43Pro)
|
|
|
NM_001347721.2(DYRK1A):c.1325A>G (p.Lys442Arg)
|
|
|
NM_001347721.2(DYRK1A):c.1330A>G (p.Lys444Glu)
|
rs1555990891
|
|
NM_001347721.2(DYRK1A):c.134A>T (p.Gln45Leu)
|
|
|
NM_001347721.2(DYRK1A):c.1352T>C (p.Leu451Pro)
|
|
|
NM_001347721.2(DYRK1A):c.1357T>C (p.Tyr453His)
|
rs2053566512
|
|
NM_001347721.2(DYRK1A):c.1382C>T (p.Pro461Leu)
|
rs2053567991
|
|
NM_001347721.2(DYRK1A):c.139A>G (p.Asn47Asp)
|
rs1569354907
|
|
NM_001347721.2(DYRK1A):c.1412A>G (p.Lys471Arg)
|
|
|
NM_001347721.2(DYRK1A):c.1430G>A (p.Gly477Asp)
|
rs1555991030
|
|
NM_001347721.2(DYRK1A):c.1436A>C (p.Asn479Thr)
|
rs2053569503
|
|
NM_001347721.2(DYRK1A):c.1444A>C (p.Asn482His)
|
rs1555991038
|
|
NM_001347721.2(DYRK1A):c.1451T>C (p.Val484Ala)
|
rs2148650151
|
|
NM_001347721.2(DYRK1A):c.1454C>G (p.Ser485Cys)
|
rs1429991264
|
|
NM_001347721.2(DYRK1A):c.1465G>A (p.Ala489Thr)
|
|
|
NM_001347721.2(DYRK1A):c.1471G>C (p.Glu491Gln)
|
|
|
NM_001347721.2(DYRK1A):c.1484C>T (p.Ser495Phe)
|
rs2148650261
|
|
NM_001347721.2(DYRK1A):c.1493C>T (p.Thr498Ile)
|
|
|
NM_001347721.2(DYRK1A):c.1496C>T (p.Thr499Ile)
|
|
|
NM_001347721.2(DYRK1A):c.1501A>G (p.Ser501Gly)
|
rs2148650316
|
|
NM_001347721.2(DYRK1A):c.1503T>C (p.Ser501=)
|
rs775331480
|
|
NM_001347721.2(DYRK1A):c.1506A>G (p.Thr502=)
|
|
|
NM_001347721.2(DYRK1A):c.1509_1511del (p.Ser506del)
|
|
|
NM_001347721.2(DYRK1A):c.1519+14C>A
|
|
|
NM_001347721.2(DYRK1A):c.1520-5T>G
|
rs2148651481
|
|
NM_001347721.2(DYRK1A):c.1527A>G (p.Ser509=)
|
rs1569398234
|
|
NM_001347721.2(DYRK1A):c.1538G>A (p.Ser513Asn)
|
|
|
NM_001347721.2(DYRK1A):c.1543A>G (p.Ser515Gly)
|
|
|
NM_001347721.2(DYRK1A):c.1544G>C (p.Ser515Thr)
|
|
|
NM_001347721.2(DYRK1A):c.1556G>A (p.Arg519Gln)
|
|
|
NM_001347721.2(DYRK1A):c.1561G>A (p.Asp521Asn)
|
rs1440750899
|
|
NM_001347721.2(DYRK1A):c.1570C>T (p.His524Tyr)
|
|
|
NM_001347721.2(DYRK1A):c.1579C>G (p.Arg527Gly)
|
rs780009759
|
|
NM_001347721.2(DYRK1A):c.1589G>A (p.Gly530Asp)
|
|
|
NM_001347721.2(DYRK1A):c.1592G>A (p.Gly531Glu)
|
|
|
NM_001347721.2(DYRK1A):c.1594C>T (p.His532Tyr)
|
rs1555991472
|
|
NM_001347721.2(DYRK1A):c.1598T>A (p.Phe533Tyr)
|
|
|
NM_001347721.2(DYRK1A):c.1601C>T (p.Thr534Ile)
|
|
|
NM_001347721.2(DYRK1A):c.1604C>A (p.Ala535Asp)
|
|
|
NM_001347721.2(DYRK1A):c.1609G>A (p.Val537Met)
|
rs762519059
|
|
NM_001347721.2(DYRK1A):c.1613A>G (p.Gln538Arg)
|
rs2053592141
|
|
NM_001347721.2(DYRK1A):c.1615G>A (p.Ala539Thr)
|
|
|
NM_001347721.2(DYRK1A):c.1615G>T (p.Ala539Ser)
|
|
|
NM_001347721.2(DYRK1A):c.1634A>C (p.His545Pro)
|
rs1261272756
|
|
NM_001347721.2(DYRK1A):c.1644+58A>G
|
|
|
NM_001347721.2(DYRK1A):c.1651C>G (p.Gln551Glu)
|
rs1555994475
|
|
NM_001347721.2(DYRK1A):c.1653G>A (p.Gln551=)
|
|
|
NM_001347721.2(DYRK1A):c.1664CTC[1] (p.Pro556del)
|
|
|
NM_001347721.2(DYRK1A):c.1673G>T (p.Gly558Val)
|
rs1453245604
|
|
NM_001347721.2(DYRK1A):c.1684A>G (p.Thr562Ala)
|
|
|
NM_001347721.2(DYRK1A):c.1685C>T (p.Thr562Ile)
|
rs746617310
|
|
NM_001347721.2(DYRK1A):c.1691C>T (p.Ala564Val)
|
rs2148662056
|
|
NM_001347721.2(DYRK1A):c.1714A>C (p.Thr572Pro)
|
rs2053762752
|
|
NM_001347721.2(DYRK1A):c.1714A>G (p.Thr572Ala)
|
rs2053762752
|
|
NM_001347721.2(DYRK1A):c.1720C>A (p.Pro574Thr)
|
rs767840456
|
|
NM_001347721.2(DYRK1A):c.1735A>G (p.Thr579Ala)
|
|
|
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn)
|
rs724159955
|
|
NM_001347721.2(DYRK1A):c.173A>G (p.Tyr58Cys)
|
rs1041691170
|
|
NM_001347721.2(DYRK1A):c.1750C>T (p.Pro584Ser)
|
rs1237319453
|
|
NM_001347721.2(DYRK1A):c.1756C>G (p.Gln586Glu)
|
|
|
NM_001347721.2(DYRK1A):c.1766T>C (p.Leu589Ser)
|
|
|
NM_001347721.2(DYRK1A):c.1772A>G (p.His591Arg)
|
|
|
NM_001347721.2(DYRK1A):c.1778A>T (p.His593Leu)
|
rs758314164
|
|
NM_001347721.2(DYRK1A):c.1785del (p.Asn595fs)
|
|
|
NM_001347721.2(DYRK1A):c.1790C>A (p.Ser597Tyr)
|
|
|
NM_001347721.2(DYRK1A):c.1800_1811del (p.His607_His610del)
|
rs1569405356
|
|
NM_001347721.2(DYRK1A):c.1803CCA[6] (p.His610dup)
|
rs760576043
|
|
NM_001347721.2(DYRK1A):c.1810C>G (p.His604Asp)
|
rs2148662413
|
|
NM_001347721.2(DYRK1A):c.1811A>T (p.His604Leu)
|
|
|
NM_001347721.2(DYRK1A):c.1818_1823dup (p.His610_Gly611insHisHis)
|
|
|
NM_001347721.2(DYRK1A):c.1821CCA[5] (p.His610_Gly611insHisHis)
|
|
|
NM_001347721.2(DYRK1A):c.1823A>T (p.His608Leu)
|
rs1212700979
|
|
NM_001347721.2(DYRK1A):c.1825C>T (p.His609Tyr)
|
|
|
NM_001347721.2(DYRK1A):c.1832G>A (p.Gly611Glu)
|
|
|
NM_001347721.2(DYRK1A):c.1832G>T (p.Gly611Val)
|
|
|
NM_001347721.2(DYRK1A):c.1853G>T (p.Arg618Leu)
|
rs761460441
|
|
NM_001347721.2(DYRK1A):c.1856C>T (p.Thr619Ile)
|
rs2148662535
|
|
NM_001347721.2(DYRK1A):c.1859G>T (p.Arg620Met)
|
rs2148662548
|
|
NM_001347721.2(DYRK1A):c.1867G>T (p.Val623Phe)
|
|
|
NM_001347721.2(DYRK1A):c.1870T>A (p.Tyr624Asn)
|
|
|
NM_001347721.2(DYRK1A):c.1871A>G (p.Tyr624Cys)
|
|
|
NM_001347721.2(DYRK1A):c.1879C>T (p.Pro627Ser)
|
rs2053770653
|
|
NM_001347721.2(DYRK1A):c.1882A>G (p.Thr628Ala)
|
|
|
NM_001347721.2(DYRK1A):c.1886A>G (p.Asn629Ser)
|
|
|
NM_001347721.2(DYRK1A):c.1909A>G (p.Met637Val)
|
|
|
NM_001347721.2(DYRK1A):c.1919G>A (p.Gly640Asp)
|
|
|
NM_001347721.2(DYRK1A):c.1925G>A (p.Ser642Asn)
|
rs2053772423
|
|
NM_001347721.2(DYRK1A):c.1927C>T (p.His643Tyr)
|
|
|
NM_001347721.2(DYRK1A):c.1931A>G (p.His644Arg)
|
|
|
NM_001347721.2(DYRK1A):c.1936A>G (p.Met646Val)
|
|
|
NM_001347721.2(DYRK1A):c.1938G>T (p.Met646Ile)
|
rs2053772977
|
|
NM_001347721.2(DYRK1A):c.196C>G (p.Leu66Val)
|
|
|
NM_001347721.2(DYRK1A):c.1970C>T (p.Ser657Leu)
|
rs1555995028
|
|
NM_001347721.2(DYRK1A):c.1972A>G (p.Thr658Ala)
|
|
|
NM_001347721.2(DYRK1A):c.1987A>G (p.Thr663Ala)
|
|
|
NM_001347721.2(DYRK1A):c.19A>G (p.Thr7Ala)
|
rs2052265794
|
|
NM_001347721.2(DYRK1A):c.2015A>G (p.Gln672Arg)
|
rs2148662907
|
|
NM_001347721.2(DYRK1A):c.2018A>G (p.Asn673Ser)
|
|
|
NM_001347721.2(DYRK1A):c.2029G>T (p.Ala677Ser)
|
rs961574903
|
|
NM_001347721.2(DYRK1A):c.2035A>G (p.Asn679Asp)
|
rs1196786126
|
|
NM_001347721.2(DYRK1A):c.2045A>T (p.Asp682Val)
|
rs773551586
|
|
NM_001347721.2(DYRK1A):c.2046C>G (p.Asp682Glu)
|
rs1454442286
|
|
NM_001347721.2(DYRK1A):c.2060_2062dup (p.Gly687_Ala688insGly)
|
|
|
NM_001347721.2(DYRK1A):c.2069A>G (p.Asp690Gly)
|
|
|
NM_001347721.2(DYRK1A):c.208-14T>A
|
|
|
NM_001347721.2(DYRK1A):c.208-14T>C
|
|
|
NM_001347721.2(DYRK1A):c.208-17A>G
|
rs2148571354
|
|
NM_001347721.2(DYRK1A):c.208-20C>T
|
rs2148571341
|
|
NM_001347721.2(DYRK1A):c.208-28G>A
|
rs552103257
|
|
NM_001347721.2(DYRK1A):c.208-28G>C
|
rs552103257
|
|
NM_001347721.2(DYRK1A):c.208-34A>C
|
|
|
NM_001347721.2(DYRK1A):c.208-7G>T
|
rs2148571396
|
|
NM_001347721.2(DYRK1A):c.2087A>T (p.Tyr696Phe)
|
rs756765804
|
|
NM_001347721.2(DYRK1A):c.2089T>C (p.Ser697Pro)
|
|
|
NM_001347721.2(DYRK1A):c.2095C>A (p.Pro699Thr)
|
|
|
NM_001347721.2(DYRK1A):c.2103A>G (p.Gln701=)
|
rs991343149
|
|
NM_001347721.2(DYRK1A):c.2113A>G (p.Ile705Val)
|
|
|
NM_001347721.2(DYRK1A):c.211C>T (p.Arg71Trp)
|
rs770246267
|
|
NM_001347721.2(DYRK1A):c.2141C>A (p.Ser714Tyr)
|
rs572876706
|
|
NM_001347721.2(DYRK1A):c.2141C>G (p.Ser714Cys)
|
|
|
NM_001347721.2(DYRK1A):c.2146A>G (p.Asn716Asp)
|
|
|
NM_001347721.2(DYRK1A):c.214A>G (p.Met72Val)
|
|
|
NM_001347721.2(DYRK1A):c.2162A>G (p.His721Arg)
|
|
|
NM_001347721.2(DYRK1A):c.216G>A (p.Met72Ile)
|
rs1481588592
|
|
NM_001347721.2(DYRK1A):c.2177G>A (p.Gly726Glu)
|
rs1398691994
|
|
NM_001347721.2(DYRK1A):c.2210A>G (p.Glu737Gly)
|
|
|
NM_001347721.2(DYRK1A):c.2216C>T (p.Ser739Phe)
|
rs887440216
|
|
NM_001347721.2(DYRK1A):c.2218C>T (p.Pro740Ser)
|
rs2148663381
|
|
NM_001347721.2(DYRK1A):c.2219C>T (p.Pro740Leu)
|
rs753226962
|
|
NM_001347721.2(DYRK1A):c.2220dup (p.Met741fs)
|
rs2053783768
|
|
NM_001347721.2(DYRK1A):c.2227G>A (p.Gly743Arg)
|
|
|
NM_001347721.2(DYRK1A):c.2237_2238del (p.Val746fs)
|
|
|
NM_001347721.2(DYRK1A):c.227T>G (p.Phe76Cys)
|
rs1601219318
|
|
NM_001347721.2(DYRK1A):c.235C>T (p.Pro79Ser)
|
rs759745713
|
|
NM_001347721.2(DYRK1A):c.238G>A (p.Ala80Thr)
|
rs2148571533
|
|
NM_001347721.2(DYRK1A):c.241A>T (p.Thr81Ser)
|
|
|
NM_001347721.2(DYRK1A):c.262T>A (p.Ser88Thr)
|
|
|
NM_001347721.2(DYRK1A):c.263C>G (p.Ser88Cys)
|
|
|
NM_001347721.2(DYRK1A):c.290A>G (p.His97Arg)
|
|
|
NM_001347721.2(DYRK1A):c.300+7C>T
|
rs537532878
|
|
NM_001347721.2(DYRK1A):c.323G>A (p.Arg108Gln)
|
rs2148582050
|
|
NM_001347721.2(DYRK1A):c.363G>C (p.Lys121Asn)
|
rs991834315
|
|
NM_001347721.2(DYRK1A):c.365A>G (p.Lys122Arg)
|
|
|
NM_001347721.2(DYRK1A):c.370C>T (p.Arg124Trp)
|
rs2052608140
|
|
NM_001347721.2(DYRK1A):c.383A>G (p.Asn128Ser)
|
rs758001054
|
|
NM_001347721.2(DYRK1A):c.404A>G (p.Asn135Ser)
|
rs1601230964
|
|
NM_001347721.2(DYRK1A):c.406T>C (p.Tyr136His)
|
|
|
NM_001347721.2(DYRK1A):c.411T>A (p.Asp137Glu)
|
rs2148582342
|
|
NM_001347721.2(DYRK1A):c.413A>G (p.Tyr138Cys)
|
|
|
NM_001347721.2(DYRK1A):c.421A>G (p.Lys141Glu)
|
|
|
NM_001347721.2(DYRK1A):c.427G>A (p.Gly143Arg)
|
|
|
NM_001347721.2(DYRK1A):c.436T>A (p.Trp146Arg)
|
|
|
NM_001347721.2(DYRK1A):c.436T>C (p.Trp146Arg)
|
|
|
NM_001347721.2(DYRK1A):c.440T>C (p.Met147Thr)
|
|
|
NM_001347721.2(DYRK1A):c.451G>A (p.Glu151Lys)
|
rs1470299902
|
|
NM_001347721.2(DYRK1A):c.454A>G (p.Ile152Val)
|
|
|
NM_001347721.2(DYRK1A):c.46C>T (p.Arg16Trp)
|
|
|
NM_001347721.2(DYRK1A):c.473A>G (p.Lys158Arg)
|
|
|
NM_001347721.2(DYRK1A):c.473A>T (p.Lys158Ile)
|
|
|
NM_001347721.2(DYRK1A):c.475G>C (p.Gly159Arg)
|
|
|
NM_001347721.2(DYRK1A):c.490-9_490-5del
|
rs2052869101
|
|
NM_001347721.2(DYRK1A):c.493G>A (p.Val165Ile)
|
rs2052870219
|
|
NM_001347721.2(DYRK1A):c.499G>C (p.Ala167Pro)
|
|
|
NM_001347721.2(DYRK1A):c.499G>T (p.Ala167Ser)
|
rs2052870452
|
|
NM_001347721.2(DYRK1A):c.517C>G (p.Gln173Glu)
|
|
|
NM_001347721.2(DYRK1A):c.556G>A (p.Ala186Thr)
|
rs2148600841
|
|
NM_001347721.2(DYRK1A):c.565A>G (p.Asn189Asp)
|
|
|
NM_001347721.2(DYRK1A):c.56C>T (p.Pro19Leu)
|
rs1056885794
|
|
NM_001347721.2(DYRK1A):c.611A>G (p.His204Arg)
|
|
|
NM_001347721.2(DYRK1A):c.636A>G (p.Ile212Met)
|
rs2148601089
|
|
NM_001347721.2(DYRK1A):c.638-14_638-13del
|
rs1029281009
|
|
NM_001347721.2(DYRK1A):c.638-8_638-3del
|
rs2053033529
|
|
NM_001347721.2(DYRK1A):c.658A>T (p.Met220Leu)
|
|
|
NM_001347721.2(DYRK1A):c.660G>A (p.Met220Ile)
|
|
|
NM_001347721.2(DYRK1A):c.665G>A (p.Arg222Gln)
|
|
|
NM_001347721.2(DYRK1A):c.693G>A (p.Met231Ile)
|
rs747214593
|
|
NM_001347721.2(DYRK1A):c.695T>C (p.Leu232Pro)
|
rs1555984150
|
|
NM_001347721.2(DYRK1A):c.69C>A (p.Phe23Leu)
|
|
|
NM_001347721.2(DYRK1A):c.707T>C (p.Leu236Pro)
|
|
|
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg)
|
rs797044525
|
|
NM_001347721.2(DYRK1A):c.728C>G (p.Thr243Ser)
|
|
|
NM_001347721.2(DYRK1A):c.764A>G (p.Lys255Arg)
|
|
|
NM_001347721.2(DYRK1A):c.76G>A (p.Ala26Thr)
|
rs2148556430
|
|
NM_001347721.2(DYRK1A):c.785C>G (p.Thr262Ser)
|
|
|
NM_001347721.2(DYRK1A):c.820A>G (p.Ile274Val)
|
|
|
NM_001347721.2(DYRK1A):c.842C>G (p.Pro281Arg)
|
rs1555984358
|
|
NM_001347721.2(DYRK1A):c.848A>G (p.Asn283Ser)
|
|
|
NM_001347721.2(DYRK1A):c.850A>G (p.Ile284Val)
|
rs1384337682
|
|
NM_001347721.2(DYRK1A):c.851T>C (p.Ile284Thr)
|
|
|
NM_001347721.2(DYRK1A):c.853C>A (p.Leu285Ile)
|
|
|
NM_001347721.2(DYRK1A):c.871C>T (p.Arg291Cys)
|
|
|
NM_001347721.2(DYRK1A):c.872G>A (p.Arg291His)
|
|
|
NM_001347721.2(DYRK1A):c.87G>C (p.Gln29His)
|
rs1010198969
|
|
NM_001347721.2(DYRK1A):c.880A>G (p.Ile294Val)
|
|
|
NM_001347721.2(DYRK1A):c.886A>G (p.Ile296Val)
|
|
|
NM_001347721.2(DYRK1A):c.915G>C (p.Leu305Phe)
|
|
|
NM_001347721.2(DYRK1A):c.917G>A (p.Gly306Glu)
|
|
|
NM_001347721.2(DYRK1A):c.91G>A (p.Ala31Thr)
|
|
|
NM_001347721.2(DYRK1A):c.924+5G>A
|
|
|
NM_001347721.2(DYRK1A):c.924+5G>T
|
|
|
NM_001347721.2(DYRK1A):c.925-11A>G
|
rs2148619358
|
|
NM_001347721.2(DYRK1A):c.925-3C>T
|
|
|
NM_001347721.2(DYRK1A):c.925A>G (p.Ile309Val)
|
rs2148619384
|
|
NM_001347721.2(DYRK1A):c.944G>A (p.Ser315Asn)
|
|
|
NM_001347721.2(DYRK1A):c.949T>G (p.Phe317Val)
|
|
|
NM_001347721.2(DYRK1A):c.955C>T (p.Arg319Trp)
|
rs113004433
|
|
NM_001347721.2(DYRK1A):c.956G>A (p.Arg319Gln)
|
|
|
NM_001347721.2(DYRK1A):c.95G>T (p.Gly32Val)
|
|
|
NM_001347721.2(DYRK1A):c.962C>T (p.Pro321Leu)
|
rs2053148979
|
|
NM_001347721.2(DYRK1A):c.964G>A (p.Glu322Lys)
|
|
|
NM_001347721.2(DYRK1A):c.986A>G (p.Tyr329Cys)
|
|
|