NM_001347721.2(DYRK1A):c.1389T>C (p.Tyr463=)
|
rs55854596
|
0.00499
|
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro)
|
rs55720916
|
0.00446
|
NM_001347721.2(DYRK1A):c.208-40C>G
|
rs140466090
|
0.00297
|
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala)
|
rs145857775
|
0.00186
|
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=)
|
rs138086853
|
0.00165
|
NM_001347721.2(DYRK1A):c.925-19A>G
|
rs78428152
|
0.00136
|
NM_001347721.2(DYRK1A):c.1071+15G>A
|
rs374505179
|
0.00076
|
NM_001347721.2(DYRK1A):c.1213-7C>T
|
rs199867876
|
0.00065
|
NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=)
|
rs113110833
|
0.00050
|
NM_001347721.2(DYRK1A):c.492T>C (p.Val164=)
|
rs148892536
|
0.00049
|
NM_001347721.2(DYRK1A):c.234C>T (p.Asp78=)
|
rs1049764
|
0.00041
|
NM_001347721.2(DYRK1A):c.1365C>A (p.Pro455=)
|
rs745311187
|
0.00029
|
NM_001347721.2(DYRK1A):c.1871A>T (p.Tyr624Phe)
|
rs147650865
|
0.00023
|
NM_001347721.2(DYRK1A):c.1014C>T (p.Leu338=)
|
rs143646885
|
0.00021
|
NM_001347721.2(DYRK1A):c.208-38G>A
|
rs115030073
|
0.00020
|
NM_001347721.2(DYRK1A):c.627A>G (p.Lys209=)
|
rs1130754
|
0.00020
|
NM_001347721.2(DYRK1A):c.1213-9C>T
|
rs1162465153
|
0.00015
|
NM_001347721.2(DYRK1A):c.1649G>A (p.Arg550His)
|
rs144190333
|
0.00014
|
NM_001347721.2(DYRK1A):c.1998A>C (p.Gln666His)
|
rs756785454
|
0.00014
|
NM_001347721.2(DYRK1A):c.301-17A>G
|
rs200070302
|
0.00014
|
NM_001347721.2(DYRK1A):c.333A>G (p.Gln111=)
|
rs370463929
|
0.00014
|
NM_001347721.2(DYRK1A):c.1213-3C>T
|
rs755806405
|
0.00011
|
NM_001347721.2(DYRK1A):c.1874A>G (p.Asn625Ser)
|
rs370090236
|
0.00011
|
NM_001347721.2(DYRK1A):c.489+9A>G
|
rs187936450
|
0.00010
|
NM_001347721.2(DYRK1A):c.637+16A>G
|
rs373230801
|
0.00010
|
NM_001347721.2(DYRK1A):c.1260G>A (p.Val420=)
|
rs139043513
|
0.00009
|
NM_001347721.2(DYRK1A):c.1818T>C (p.His606=)
|
rs372827991
|
0.00009
|
NM_001347721.2(DYRK1A):c.1968C>T (p.Ser656=)
|
rs752369735
|
0.00009
|
NM_001347721.2(DYRK1A):c.2049T>C (p.Phe683=)
|
rs375130004
|
0.00008
|
NM_001347721.2(DYRK1A):c.348C>T (p.Asp116=)
|
rs150200258
|
0.00008
|
NM_001347721.2(DYRK1A):c.1529C>T (p.Ser510Leu)
|
rs556482236
|
0.00007
|
NM_001347721.2(DYRK1A):c.2118T>C (p.Ala706=)
|
rs148838994
|
0.00007
|
NM_001347721.2(DYRK1A):c.2224A>T (p.Thr742Ser)
|
rs147973077
|
0.00007
|
NM_001347721.2(DYRK1A):c.1608C>T (p.Ala536=)
|
rs151236032
|
0.00006
|
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr)
|
rs200808105
|
0.00006
|
NM_001347721.2(DYRK1A):c.2144C>G (p.Ala715Gly)
|
rs143498500
|
0.00006
|
NM_001347721.2(DYRK1A):c.696G>T (p.Leu232=)
|
rs549631808
|
0.00006
|
NM_001347721.2(DYRK1A):c.925-8T>C
|
rs199804785
|
0.00006
|
NM_001347721.2(DYRK1A):c.1240C>T (p.Leu414Phe)
|
rs202018285
|
0.00005
|
NM_001347721.2(DYRK1A):c.1568C>T (p.Thr523Met)
|
rs148756105
|
0.00005
|
NM_001347721.2(DYRK1A):c.1735A>C (p.Thr579Pro)
|
rs149948846
|
0.00005
|
NM_001347721.2(DYRK1A):c.300+18A>G
|
rs778597343
|
0.00005
|
NM_001347721.2(DYRK1A):c.300+3A>G
|
rs1241074832
|
0.00005
|
NM_001347721.2(DYRK1A):c.1155C>T (p.Phe385=)
|
rs138755502
|
0.00004
|
NM_001347721.2(DYRK1A):c.1509G>A (p.Ser503=)
|
rs763907769
|
0.00004
|
NM_001347721.2(DYRK1A):c.1630A>G (p.Thr544Ala)
|
rs759183785
|
0.00004
|
NM_001347721.2(DYRK1A):c.1685C>G (p.Thr562Ser)
|
rs746617310
|
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.450C>T (p.Tyr150=)
|
rs1049773
|
0.00004
|
NM_001347721.2(DYRK1A):c.638-16C>T
|
rs752215022
|
0.00004
|
NM_001347721.2(DYRK1A):c.10+6T>G
|
rs1057522660
|
0.00003
|
NM_001347721.2(DYRK1A):c.1247A>C (p.Asn416Thr)
|
rs777063595
|
0.00003
|
NM_001347721.2(DYRK1A):c.1380A>G (p.Gln460=)
|
rs370029826
|
0.00003
|
NM_001347721.2(DYRK1A):c.1588G>A (p.Gly530Ser)
|
rs369477265
|
0.00003
|
NM_001347721.2(DYRK1A):c.1644+9G>A
|
rs750741834
|
0.00003
|
NM_001347721.2(DYRK1A):c.1645G>A (p.Val549Met)
|
rs992193845
|
0.00003
|
NM_001347721.2(DYRK1A):c.1800T>C (p.His600=)
|
rs867610020
|
0.00003
|
NM_001347721.2(DYRK1A):c.1853G>A (p.Arg618Gln)
|
rs761460441
|
0.00003
|
NM_001347721.2(DYRK1A):c.2031T>C (p.Ala677=)
|
rs1376891560
|
0.00003
|
NM_001347721.2(DYRK1A):c.2217C>T (p.Ser739=)
|
rs781780799
|
0.00003
|
NM_001347721.2(DYRK1A):c.300+5G>A
|
rs753511347
|
0.00003
|
NM_001347721.2(DYRK1A):c.349G>A (p.Asp117Asn)
|
rs959419590
|
0.00003
|
NM_001347721.2(DYRK1A):c.363G>A (p.Lys121=)
|
rs991834315
|
0.00003
|
NM_001347721.2(DYRK1A):c.489+12G>A
|
rs374459216
|
0.00003
|
NM_001347721.2(DYRK1A):c.638-3C>T
|
rs779620187
|
0.00003
|
NM_001347721.2(DYRK1A):c.818G>A (p.Ser273Asn)
|
rs758888181
|
0.00003
|
NM_001347721.2(DYRK1A):c.1004T>C (p.Met335Thr)
|
rs746978297
|
0.00002
|
NM_001347721.2(DYRK1A):c.1178C>G (p.Thr393Ser)
|
rs777270510
|
0.00002
|
NM_001347721.2(DYRK1A):c.1269A>G (p.Gly423=)
|
rs763249471
|
0.00002
|
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met)
|
rs759524625
|
0.00002
|
NM_001347721.2(DYRK1A):c.1311C>T (p.Val437=)
|
rs149417608
|
0.00002
|
NM_001347721.2(DYRK1A):c.1519+15G>A
|
rs1199318887
|
0.00002
|
NM_001347721.2(DYRK1A):c.1560G>A (p.Ser520=)
|
rs778482688
|
0.00002
|
NM_001347721.2(DYRK1A):c.1564C>T (p.Pro522Ser)
|
rs757603372
|
0.00002
|
NM_001347721.2(DYRK1A):c.1566G>A (p.Pro522=)
|
rs530846706
|
0.00002
|
NM_001347721.2(DYRK1A):c.1636A>T (p.Ser546Cys)
|
rs199807626
|
0.00002
|
NM_001347721.2(DYRK1A):c.1644+13G>A
|
rs752956372
|
0.00002
|
NM_001347721.2(DYRK1A):c.1698A>C (p.Thr566=)
|
rs375157979
|
0.00002
|
NM_001347721.2(DYRK1A):c.1702G>C (p.Val568Leu)
|
rs771373401
|
0.00002
|
NM_001347721.2(DYRK1A):c.1705A>G (p.Thr569Ala)
|
rs774075762
|
0.00002
|
NM_001347721.2(DYRK1A):c.1852C>T (p.Arg618Trp)
|
rs758367401
|
0.00002
|
NM_001347721.2(DYRK1A):c.1941A>G (p.Thr647=)
|
rs773356976
|
0.00002
|
NM_001347721.2(DYRK1A):c.1971G>A (p.Ser657=)
|
rs755724183
|
0.00002
|
NM_001347721.2(DYRK1A):c.2083G>A (p.Val695Ile)
|
rs200597760
|
0.00002
|
NM_001347721.2(DYRK1A):c.241A>G (p.Thr81Ala)
|
rs767489712
|
0.00002
|
NM_001347721.2(DYRK1A):c.300+9T>C
|
rs187183665
|
0.00002
|
NM_001347721.2(DYRK1A):c.327A>G (p.Arg109=)
|
rs760666489
|
0.00002
|
NM_001347721.2(DYRK1A):c.380A>G (p.Tyr127Cys)
|
rs750128893
|
0.00002
|
NM_001347721.2(DYRK1A):c.1092A>C (p.Ile364=)
|
rs201327052
|
0.00001
|
NM_001347721.2(DYRK1A):c.11-7C>T
|
rs1160132254
|
0.00001
|
NM_001347721.2(DYRK1A):c.1227A>G (p.Pro409=)
|
rs542885762
|
0.00001
|
NM_001347721.2(DYRK1A):c.1229G>C (p.Gly410Ala)
|
rs978604744
|
0.00001
|
NM_001347721.2(DYRK1A):c.1259T>C (p.Val420Ala)
|
rs770275081
|
0.00001
|
NM_001347721.2(DYRK1A):c.1264A>G (p.Thr422Ala)
|
rs1459549692
|
0.00001
|
NM_001347721.2(DYRK1A):c.127C>T (p.Arg43Cys)
|
rs367984873
|
0.00001
|
NM_001347721.2(DYRK1A):c.128G>A (p.Arg43His)
|
rs750600368
|
0.00001
|
NM_001347721.2(DYRK1A):c.1308G>A (p.Thr436=)
|
rs376512809
|
0.00001
|
NM_001347721.2(DYRK1A):c.1320C>T (p.Tyr440=)
|
rs1336115331
|
0.00001
|
NM_001347721.2(DYRK1A):c.1338C>T (p.Leu446=)
|
rs755971698
|
0.00001
|
NM_001347721.2(DYRK1A):c.1341T>C (p.Ile447=)
|
rs763854430
|
0.00001
|
NM_001347721.2(DYRK1A):c.1375A>T (p.Ile459Phe)
|
rs1263156590
|
0.00001
|
NM_001347721.2(DYRK1A):c.1386T>C (p.Tyr462=)
|
rs1240778840
|
0.00001
|
NM_001347721.2(DYRK1A):c.1403G>C (p.Ser468Thr)
|
rs372217349
|
0.00001
|
NM_001347721.2(DYRK1A):c.1419A>G (p.Thr473=)
|
rs1479713702
|
0.00001
|
NM_001347721.2(DYRK1A):c.1461C>T (p.Ser487=)
|
rs1333054024
|
0.00001
|
NM_001347721.2(DYRK1A):c.1464C>T (p.Pro488=)
|
rs541193560
|
0.00001
|
NM_001347721.2(DYRK1A):c.1481A>C (p.Gln494Pro)
|
rs2053571059
|
0.00001
|
NM_001347721.2(DYRK1A):c.1488G>A (p.Ser496=)
|
rs767630443
|
0.00001
|
NM_001347721.2(DYRK1A):c.1497C>T (p.Thr499=)
|
rs1351264959
|
0.00001
|
NM_001347721.2(DYRK1A):c.1510T>A (p.Ser504Thr)
|
rs1447174732
|
0.00001
|
NM_001347721.2(DYRK1A):c.1530G>A (p.Ser510=)
|
rs576270503
|
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.1607C>T (p.Ala536Val)
|
rs188293397
|
0.00001
|
NM_001347721.2(DYRK1A):c.1635C>T (p.His545=)
|
rs1461039855
|
0.00001
|
NM_001347721.2(DYRK1A):c.1639C>T (p.Pro547Ser)
|
rs757734901
|
0.00001
|
NM_001347721.2(DYRK1A):c.1642C>G (p.Gln548Glu)
|
rs1131692019
|
0.00001
|
NM_001347721.2(DYRK1A):c.1644+17T>G
|
rs369193172
|
0.00001
|
NM_001347721.2(DYRK1A):c.1644+18T>C
|
rs755097100
|
0.00001
|
NM_001347721.2(DYRK1A):c.1644+8C>T
|
rs779148340
|
0.00001
|
NM_001347721.2(DYRK1A):c.1645-12C>G
|
rs777693335
|
0.00001
|
NM_001347721.2(DYRK1A):c.1645-7C>T
|
rs1198926046
|
0.00001
|
NM_001347721.2(DYRK1A):c.1648C>T (p.Arg550Cys)
|
rs757222616
|
0.00001
|
NM_001347721.2(DYRK1A):c.1658T>A (p.Phe553Tyr)
|
rs745713557
|
0.00001
|
NM_001347721.2(DYRK1A):c.169T>C (p.Ser57Pro)
|
rs1049763
|
0.00001
|
NM_001347721.2(DYRK1A):c.1732A>G (p.Thr578Ala)
|
rs368101780
|
0.00001
|
NM_001347721.2(DYRK1A):c.1734A>C (p.Thr578=)
|
rs2053763614
|
0.00001
|
NM_001347721.2(DYRK1A):c.1782T>C (p.Gly594=)
|
rs2053765774
|
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.1830T>C (p.His610=)
|
rs112866613
|
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.1884G>A (p.Thr628=)
|
rs772393566
|
0.00001
|
NM_001347721.2(DYRK1A):c.1915G>A (p.Val639Ile)
|
rs201421931
|
0.00001
|
NM_001347721.2(DYRK1A):c.192A>G (p.Gln64=)
|
rs1018001317
|
0.00001
|
NM_001347721.2(DYRK1A):c.1945C>T (p.Leu649=)
|
rs766288349
|
0.00001
|
NM_001347721.2(DYRK1A):c.1947G>A (p.Leu649=)
|
rs767266728
|
0.00001
|
NM_001347721.2(DYRK1A):c.2003A>G (p.Asn668Ser)
|
rs543826218
|
0.00001
|
NM_001347721.2(DYRK1A):c.2011T>C (p.Tyr671His)
|
rs1019836603
|
0.00001
|
NM_001347721.2(DYRK1A):c.2070C>T (p.Asp690=)
|
rs767331150
|
0.00001
|
NM_001347721.2(DYRK1A):c.2071G>A (p.Val691Ile)
|
rs540559440
|
0.00001
|
NM_001347721.2(DYRK1A):c.208-27G>A
|
rs2052469601
|
0.00001
|
NM_001347721.2(DYRK1A):c.2082C>T (p.Thr694=)
|
rs750035013
|
0.00001
|
NM_001347721.2(DYRK1A):c.2084T>C (p.Val695Ala)
|
rs763795503
|
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.2128A>G (p.Thr710Ala)
|
rs774450081
|
0.00001
|
NM_001347721.2(DYRK1A):c.2136A>G (p.Gln712=)
|
rs771939851
|
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.219C>G (p.Pro73=)
|
rs766639446
|
0.00001
|
NM_001347721.2(DYRK1A):c.2205T>C (p.Asp735=)
|
rs549180843
|
0.00001
|
NM_001347721.2(DYRK1A):c.2241A>G (p.Gln747=)
|
rs893658809
|
0.00001
|
NM_001347721.2(DYRK1A):c.2261C>T (p.Ser754Leu)
|
rs771118827
|
0.00001
|
NM_001347721.2(DYRK1A):c.2262G>A (p.Ser754=)
|
rs778873782
|
0.00001
|
NM_001347721.2(DYRK1A):c.267T>G (p.Val89=)
|
rs1049767
|
0.00001
|
NM_001347721.2(DYRK1A):c.301-8C>T
|
rs991072716
|
0.00001
|
NM_001347721.2(DYRK1A):c.330C>T (p.His110=)
|
rs200246405
|
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.471C>G (p.Gly157=)
|
rs771460895
|
0.00001
|
NM_001347721.2(DYRK1A):c.508C>T (p.Arg170Cys)
|
rs267606122
|
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.650G>A (p.Arg217His)
|
rs758727805
|
0.00001
|
NM_001347721.2(DYRK1A):c.651C>T (p.Arg217=)
|
rs1360802609
|
0.00001
|
NM_001347721.2(DYRK1A):c.66A>G (p.Ser22=)
|
rs1178275452
|
0.00001
|
NM_001347721.2(DYRK1A):c.672T>C (p.His224=)
|
rs113868802
|
0.00001
|
NM_001347721.2(DYRK1A):c.699C>T (p.Ser233=)
|
rs1287846598
|
0.00001
|
NM_001347721.2(DYRK1A):c.715T>C (p.Leu239=)
|
rs542250367
|
0.00001
|
NM_001347721.2(DYRK1A):c.803C>T (p.Ala268Val)
|
rs1469221964
|
0.00001
|
NM_001347721.2(DYRK1A):c.837A>G (p.Leu279=)
|
rs755201558
|
0.00001
|
NM_001347721.2(DYRK1A):c.855T>C (p.Leu285=)
|
rs781455449
|
0.00001
|
NC_000021.7:g.37796500_37849000del
|
|
|
NC_000021.8:g.(?_38791602)_(38888679_?)dup
|
|
|
NC_000021.8:g.(?_38792657)_(38884854_?)del
|
|
|
NC_000021.8:g.(?_38792657)_(38884854_?)dup
|
|
|
NC_000021.8:g.(?_38844966)_(38845202_?)del
|
|
|
NC_000021.8:g.(?_38844966)_(38884854_?)del
|
|
|
NC_000021.8:g.(?_38850463)_(38850622_?)del
|
|
|
NC_000021.8:g.(?_38859534)_(38868543_?)del
|
|
|
NC_000021.8:g.(?_38868400)_(38884834_?)dup
|
|
|
NC_000021.8:g.(?_38868400)_(38884854_?)del
|
|
|
NC_000021.9:g.(?_37492997)_(37493183_?)del
|
|
|
NM_001347721.2(DYRK1A):c.10+18A>G
|
|
|
NM_001347721.2(DYRK1A):c.10+5C>T
|
|
|
NM_001347721.2(DYRK1A):c.10+9A>G
|
rs1555960038
|
|
NM_001347721.2(DYRK1A):c.1000_1001del (p.Asp334fs)
|
rs2148619635
|
|
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.1010C>T (p.Ser337Phe)
|
rs1555985649
|
|
NM_001347721.2(DYRK1A):c.1011C>G (p.Ser337=)
|
rs1555985655
|
|
NM_001347721.2(DYRK1A):c.1012C>T (p.Leu338Phe)
|
|
|
NM_001347721.2(DYRK1A):c.1015G>A (p.Gly339Arg)
|
rs2053152079
|
|
NM_001347721.2(DYRK1A):c.1017G>A (p.Gly339=)
|
|
|
NM_001347721.2(DYRK1A):c.1022T>A (p.Ile341Asn)
|
rs2148619737
|
|
NM_001347721.2(DYRK1A):c.1025del (p.Leu342fs)
|
rs1064794894
|
|
NM_001347721.2(DYRK1A):c.1029T>G (p.Val343=)
|
rs1601280401
|
|
NM_001347721.2(DYRK1A):c.1048C>G (p.Pro350Ala)
|
|
|
NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter)
|
rs1555985742
|
|
NM_001347721.2(DYRK1A):c.1071+14T>A
|
|
|
NM_001347721.2(DYRK1A):c.1071+1G>A
|
rs587776930
|
|
NM_001347721.2(DYRK1A):c.1071+1_1071+2dup
|
|
|
NM_001347721.2(DYRK1A):c.1071+4A>C
|
|
|
NM_001347721.2(DYRK1A):c.1072-13A>G
|
|
|
NM_001347721.2(DYRK1A):c.1072-16T>G
|
|
|
NM_001347721.2(DYRK1A):c.1072-1G>A
|
|
|
NM_001347721.2(DYRK1A):c.1072-2A>C
|
|
|
NM_001347721.2(DYRK1A):c.1072-2A>T
|
rs2053260627
|
|
NM_001347721.2(DYRK1A):c.1072-6A>G
|
|
|
NM_001347721.2(DYRK1A):c.1072G>A (p.Val358Ile)
|
|
|
NM_001347721.2(DYRK1A):c.1072del
|
|
|
NM_001347721.2(DYRK1A):c.1074_1077del (p.Asp359fs)
|
rs797044522
|
|
NM_001347721.2(DYRK1A):c.11-11T>C
|
|
|
NM_001347721.2(DYRK1A):c.11-12A>G
|
|
|
NM_001347721.2(DYRK1A):c.11-15C>G
|
rs1057521693
|
|
NM_001347721.2(DYRK1A):c.11-20C>A
|
|
|
NM_001347721.2(DYRK1A):c.11-9T>G
|
rs1555976923
|
|
NM_001347721.2(DYRK1A):c.1111C>T (p.Pro371Ser)
|
rs1222898147
|
|
NM_001347721.2(DYRK1A):c.1114_1133del (p.Pro372fs)
|
|
|
NM_001347721.2(DYRK1A):c.1115C>T (p.Pro372Leu)
|
rs2148627597
|
|
NM_001347721.2(DYRK1A):c.1121A>G (p.His374Arg)
|
|
|
NM_001347721.2(DYRK1A):c.1127T>C (p.Leu376Pro)
|
rs1486953271
|
|
NM_001347721.2(DYRK1A):c.1131C>T (p.Asp377=)
|
rs1007150301
|
|
NM_001347721.2(DYRK1A):c.1132C>T (p.Gln378Ter)
|
rs1555987107
|
|
NM_001347721.2(DYRK1A):c.1135G>A (p.Ala379Thr)
|
|
|
NM_001347721.2(DYRK1A):c.1135_1141del (p.Ala379fs)
|
|
|
NM_001347721.2(DYRK1A):c.1135dup (p.Ala379fs)
|
rs797045042
|
|
NM_001347721.2(DYRK1A):c.1136C>T (p.Ala379Val)
|
|
|
NM_001347721.2(DYRK1A):c.1145C>G (p.Ala382Gly)
|
rs747860415
|
|
NM_001347721.2(DYRK1A):c.1152G>A (p.Lys384=)
|
|
|
NM_001347721.2(DYRK1A):c.1158T>G (p.Phe386Leu)
|
rs2053264281
|
|
NM_001347721.2(DYRK1A):c.1158dup (p.Glu387Ter)
|
rs2148627691
|
|
NM_001347721.2(DYRK1A):c.1171G>C (p.Asp391His)
|
rs764259930
|
|
NM_001347721.2(DYRK1A):c.1190_1193del (p.Lys397fs)
|
rs2148627802
|
|
NM_001347721.2(DYRK1A):c.1190dup (p.Lys398fs)
|
|
|
NM_001347721.2(DYRK1A):c.1191_1192insTT (p.Lys398fs)
|
|
|
NM_001347721.2(DYRK1A):c.1198A>G (p.Lys400Glu)
|
|
|
NM_001347721.2(DYRK1A):c.1202A>G (p.Asp401Gly)
|
rs2053265788
|
|
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.1212+7T>G
|
|
|
NM_001347721.2(DYRK1A):c.1212+9del
|
|
|
NM_001347721.2(DYRK1A):c.1212_1213insTAA (p.Glu405Ter)
|
|
|
NM_001347721.2(DYRK1A):c.1213-10T>C
|
|
|
NM_001347721.2(DYRK1A):c.1213-21_1213-17del
|
rs2148649327
|
|
NM_001347721.2(DYRK1A):c.1213-2A>G
|
rs1601315812
|
|
NM_001347721.2(DYRK1A):c.1213-3C>G
|
|
|
NM_001347721.2(DYRK1A):c.1215G>A (p.Glu405=)
|
|
|
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.1218C>G (p.Tyr406Ter)
|
|
|
NM_001347721.2(DYRK1A):c.1224A>G (p.Pro408=)
|
|
|
NM_001347721.2(DYRK1A):c.1224dup (p.Pro409fs)
|
|
|
NM_001347721.2(DYRK1A):c.122G>C (p.Ser41Thr)
|
|
|
NM_001347721.2(DYRK1A):c.1234C>T (p.Arg412Cys)
|
|
|
NM_001347721.2(DYRK1A):c.1235G>A (p.Arg412His)
|
rs202011970
|
|
NM_001347721.2(DYRK1A):c.1250T>G (p.Ile417Ser)
|
rs2053562261
|
|
NM_001347721.2(DYRK1A):c.1259_1260dup (p.Glu421fs)
|
|
|
NM_001347721.2(DYRK1A):c.1271_1272insT (p.Pro425fs)
|
rs797045539
|
|
NM_001347721.2(DYRK1A):c.1271dup (p.Pro425fs)
|
|
|
NM_001347721.2(DYRK1A):c.127C>A (p.Arg43Ser)
|
rs367984873
|
|
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)
|
rs724159953
|
|
NM_001347721.2(DYRK1A):c.1286G>A (p.Arg429His)
|
rs1379071994
|
|
NM_001347721.2(DYRK1A):c.1289C>A (p.Ala430Asp)
|
|
|
NM_001347721.2(DYRK1A):c.1289del (p.Ala430fs)
|
rs2053564046
|
|
NM_001347721.2(DYRK1A):c.128G>C (p.Arg43Pro)
|
|
|
NM_001347721.2(DYRK1A):c.129T>C (p.Arg43=)
|
|
|
NM_001347721.2(DYRK1A):c.1308G>T (p.Thr436=)
|
|
|
NM_001347721.2(DYRK1A):c.1325A>G (p.Lys442Arg)
|
|
|
NM_001347721.2(DYRK1A):c.1330A>G (p.Lys444Glu)
|
rs1555990891
|
|
NM_001347721.2(DYRK1A):c.1331A>G (p.Lys444Arg)
|
rs2053565382
|
|
NM_001347721.2(DYRK1A):c.1336del (p.Leu446fs)
|
|
|
NM_001347721.2(DYRK1A):c.134A>T (p.Gln45Leu)
|
|
|
NM_001347721.2(DYRK1A):c.1352T>C (p.Leu451Pro)
|
|
|
NM_001347721.2(DYRK1A):c.1354_1357del (p.Asp452fs)
|
rs2053566124
|
|
NM_001347721.2(DYRK1A):c.1357_1358insTC (p.Tyr453fs)
|
rs2053566582
|
|
NM_001347721.2(DYRK1A):c.1363C>G (p.Pro455Ala)
|
rs756860738
|
|
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter)
|
rs797044520
|
|
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln)
|
rs797045041
|
|
NM_001347721.2(DYRK1A):c.1378C>T (p.Gln460Ter)
|
rs1555990955
|
|
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs)
|
rs1555990958
|
|
NM_001347721.2(DYRK1A):c.1382C>T (p.Pro461Leu)
|
rs2053567991
|
|
NM_001347721.2(DYRK1A):c.138A>T (p.Pro46=)
|
rs1049759
|
|
NM_001347721.2(DYRK1A):c.139A>G (p.Asn47Asp)
|
rs1569354907
|
|
NM_001347721.2(DYRK1A):c.1412A>G (p.Lys471Arg)
|
|
|
NM_001347721.2(DYRK1A):c.1416A>G (p.Lys472=)
|
|
|
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.143_144del (p.Ile48fs)
|
rs587776929
|
|
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.1458A>C (p.Thr486=)
|
rs749554517
|
|
NM_001347721.2(DYRK1A):c.1464C>A (p.Pro488=)
|
|
|
NM_001347721.2(DYRK1A):c.1464del (p.Ala489fs)
|
rs1057519628
|
|
NM_001347721.2(DYRK1A):c.1465G>A (p.Ala489Thr)
|
|
|
NM_001347721.2(DYRK1A):c.1471G>C (p.Glu491Gln)
|
|
|
NM_001347721.2(DYRK1A):c.1476del (p.Gln492fs)
|
|
|
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.1508C>G (p.Ser503Trp)
|
rs1555991126
|
|
NM_001347721.2(DYRK1A):c.1509G>T (p.Ser503=)
|
rs763907769
|
|
NM_001347721.2(DYRK1A):c.1509_1511del (p.Ser506del)
|
|
|
NM_001347721.2(DYRK1A):c.1515C>T (p.Ser505=)
|
rs1555991138
|
|
NM_001347721.2(DYRK1A):c.1519+14C>A
|
|
|
NM_001347721.2(DYRK1A):c.1519+14C>T
|
rs764853483
|
|
NM_001347721.2(DYRK1A):c.1519+17T>A
|
|
|
NM_001347721.2(DYRK1A):c.1520-11T>C
|
|
|
NM_001347721.2(DYRK1A):c.1520-13T>C
|
|
|
NM_001347721.2(DYRK1A):c.1520-1G>C
|
|
|
NM_001347721.2(DYRK1A):c.1520-5T>G
|
rs2148651481
|
|
NM_001347721.2(DYRK1A):c.1526C>G (p.Ser509Ter)
|
|
|
NM_001347721.2(DYRK1A):c.1527A>G (p.Ser509=)
|
rs1569398234
|
|
NM_001347721.2(DYRK1A):c.1527A>T (p.Ser509=)
|
rs1569398234
|
|
NM_001347721.2(DYRK1A):c.1538G>A (p.Ser513Asn)
|
|
|
NM_001347721.2(DYRK1A):c.1542C>T (p.Asn514=)
|
rs2053588467
|
|
NM_001347721.2(DYRK1A):c.1544G>C (p.Ser515Thr)
|
|
|
NM_001347721.2(DYRK1A):c.1548G>T (p.Gly516=)
|
|
|
NM_001347721.2(DYRK1A):c.1554C>G (p.Ala518=)
|
|
|
NM_001347721.2(DYRK1A):c.1554C>T (p.Ala518=)
|
rs1335824926
|
|
NM_001347721.2(DYRK1A):c.1556G>A (p.Arg519Gln)
|
|
|
NM_001347721.2(DYRK1A):c.1561G>A (p.Asp521Asn)
|
rs1440750899
|
|
NM_001347721.2(DYRK1A):c.1565C>T (p.Pro522Leu)
|
rs2148651660
|
|
NM_001347721.2(DYRK1A):c.1569G>A (p.Thr523=)
|
|
|
NM_001347721.2(DYRK1A):c.1575G>A (p.Gln525=)
|
rs1555991440
|
|
NM_001347721.2(DYRK1A):c.1579C>G (p.Arg527Gly)
|
rs780009759
|
|
NM_001347721.2(DYRK1A):c.1583del (p.His528fs)
|
rs1601319086
|
|
NM_001347721.2(DYRK1A):c.1587_1588dup (p.Gly530fs)
|
|
|
NM_001347721.2(DYRK1A):c.1589G>A (p.Gly530Asp)
|
|
|
NM_001347721.2(DYRK1A):c.1592G>A (p.Gly531Glu)
|
|
|
NM_001347721.2(DYRK1A):c.1593G>A (p.Gly531=)
|
rs1167244439
|
|
NM_001347721.2(DYRK1A):c.1593G>C (p.Gly531=)
|
|
|
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.1608C>G (p.Ala536=)
|
rs151236032
|
|
NM_001347721.2(DYRK1A):c.1609G>A (p.Val537Met)
|
rs762519059
|
|
NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter)
|
rs869312708
|
|
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.1617C>G (p.Ala539=)
|
|
|
NM_001347721.2(DYRK1A):c.1622A>G (p.Asp541Gly)
|
|
|
NM_001347721.2(DYRK1A):c.1623C>T (p.Asp541=)
|
rs2053592476
|
|
NM_001347721.2(DYRK1A):c.1626C>T (p.Cys542=)
|
|
|
NM_001347721.2(DYRK1A):c.1634A>C (p.His545Pro)
|
rs1261272756
|
|
NM_001347721.2(DYRK1A):c.1635_1636del (p.His545fs)
|
rs1601319352
|
|
NM_001347721.2(DYRK1A):c.1638T>C (p.Ser546=)
|
rs2148651939
|
|
NM_001347721.2(DYRK1A):c.1644+11A>G
|
rs2148651981
|
|
NM_001347721.2(DYRK1A):c.1644+12C>T
|
|
|
NM_001347721.2(DYRK1A):c.1644+9G>T
|
|
|
NM_001347721.2(DYRK1A):c.1645-19T>C
|
|
|
NM_001347721.2(DYRK1A):c.1645-3C>A
|
|
|
NM_001347721.2(DYRK1A):c.1645-4T>C
|
rs2148661946
|
|
NM_001347721.2(DYRK1A):c.1645-5T>C
|
rs1239649195
|
|
NM_001347721.2(DYRK1A):c.1645-7C>A
|
rs1198926046
|
|
NM_001347721.2(DYRK1A):c.1647G>T (p.Val549=)
|
|
|
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.168A>G (p.Leu56=)
|
rs754909260
|
|
NM_001347721.2(DYRK1A):c.1692T>C (p.Ala564=)
|
|
|
NM_001347721.2(DYRK1A):c.1693C>T (p.Pro565Ser)
|
rs768231661
|
|
NM_001347721.2(DYRK1A):c.1698A>G (p.Thr566=)
|
|
|
NM_001347721.2(DYRK1A):c.1699C>T (p.Gln567Ter)
|
rs1555994573
|
|
NM_001347721.2(DYRK1A):c.1704C>A (p.Val568=)
|
|
|
NM_001347721.2(DYRK1A):c.1712A>G (p.Glu571Gly)
|
rs1601334526
|
|
NM_001347721.2(DYRK1A):c.1714A>G (p.Thr572Ala)
|
rs2053762752
|
|
NM_001347721.2(DYRK1A):c.171A>G (p.Ser57=)
|
rs747907599
|
|
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.1737C>T (p.Thr579=)
|
|
|
NM_001347721.2(DYRK1A):c.173A>G (p.Tyr58Cys)
|
rs1041691170
|
|
NM_001347721.2(DYRK1A):c.1746A>G (p.Val582=)
|
|
|
NM_001347721.2(DYRK1A):c.1750C>T (p.Pro584Ser)
|
rs1237319453
|
|
NM_001347721.2(DYRK1A):c.1753C>T (p.Gln585Ter)
|
|
|
NM_001347721.2(DYRK1A):c.1755A>G (p.Gln585=)
|
|
|
NM_001347721.2(DYRK1A):c.1756C>G (p.Gln586Glu)
|
|
|
NM_001347721.2(DYRK1A):c.1763C>T (p.Ala588Val)
|
rs2053764972
|
|
NM_001347721.2(DYRK1A):c.1764A>T (p.Ala588=)
|
|
|
NM_001347721.2(DYRK1A):c.1766T>C (p.Leu589Ser)
|
|
|
NM_001347721.2(DYRK1A):c.1767G>A (p.Leu589=)
|
rs1555994711
|
|
NM_001347721.2(DYRK1A):c.1770T>C (p.His590=)
|
|
|
NM_001347721.2(DYRK1A):c.1772A>G (p.His591Arg)
|
|
|
NM_001347721.2(DYRK1A):c.1774C>T (p.His592Tyr)
|
rs1240334378
|
|
NM_001347721.2(DYRK1A):c.1778A>T (p.His593Leu)
|
rs758314164
|
|
NM_001347721.2(DYRK1A):c.1779T>C (p.His593=)
|
rs2148662293
|
|
NM_001347721.2(DYRK1A):c.1785del (p.Asn595fs)
|
|
|
NM_001347721.2(DYRK1A):c.1790C>A (p.Ser597Tyr)
|
|
|
NM_001347721.2(DYRK1A):c.1794T>C (p.His598=)
|
rs2053766465
|
|
NM_001347721.2(DYRK1A):c.1800_1808del (p.His608_His610del)
|
|
|
NM_001347721.2(DYRK1A):c.1803CCA[1] (p.His607_His610del)
|
rs760576043
|
|
NM_001347721.2(DYRK1A):c.1803CCA[3] (p.His609_His610del)
|
|
|
NM_001347721.2(DYRK1A):c.1803CCA[4] (p.His610del)
|
rs760576043
|
|
NM_001347721.2(DYRK1A):c.1803CCA[6] (p.His610dup)
|
rs760576043
|
|
NM_001347721.2(DYRK1A):c.1803CCA[7] (p.His609_His610dup)
|
rs760576043
|
|
NM_001347721.2(DYRK1A):c.1807CACCACCACCAT[1] (p.His607_His610del)
|
rs752377554
|
|
NM_001347721.2(DYRK1A):c.1811A>T (p.His604Leu)
|
|
|
NM_001347721.2(DYRK1A):c.1812_1829del (p.His605_His610del)
|
rs2053766726
|
|
NM_001347721.2(DYRK1A):c.1815C>T (p.His605=)
|
|
|
NM_001347721.2(DYRK1A):c.1818_1820del (p.His610del)
|
|
|
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.1827C>T (p.His609=)
|
rs764279727
|
|
NM_001347721.2(DYRK1A):c.1832G>A (p.Gly611Glu)
|
|
|
NM_001347721.2(DYRK1A):c.1832G>T (p.Gly611Val)
|
|
|
NM_001347721.2(DYRK1A):c.1833A>G (p.Gly611=)
|
|
|
NM_001347721.2(DYRK1A):c.1837C>T (p.Gln613Ter)
|
|
|
NM_001347721.2(DYRK1A):c.1842C>G (p.Ala614=)
|
|
|
NM_001347721.2(DYRK1A):c.1853G>T (p.Arg618Leu)
|
rs761460441
|
|
NM_001347721.2(DYRK1A):c.1864A>G (p.Arg622Gly)
|
|
|
NM_001347721.2(DYRK1A):c.1867G>T (p.Val623Phe)
|
|
|
NM_001347721.2(DYRK1A):c.1871A>G (p.Tyr624Cys)
|
|
|
NM_001347721.2(DYRK1A):c.1879C>T (p.Pro627Ser)
|
rs2053770653
|
|
NM_001347721.2(DYRK1A):c.187C>A (p.Gln63Lys)
|
|
|
NM_001347721.2(DYRK1A):c.187C>T (p.Gln63Ter)
|
rs373178770
|
|
NM_001347721.2(DYRK1A):c.1882A>G (p.Thr628Ala)
|
|
|
NM_001347721.2(DYRK1A):c.1886A>G (p.Asn629Ser)
|
|
|
NM_001347721.2(DYRK1A):c.1898C>T (p.Thr633Ile)
|
|
|
NM_001347721.2(DYRK1A):c.1908T>A (p.Ser636=)
|
|
|
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.1932C>T (p.His644=)
|
rs1601335484
|
|
NM_001347721.2(DYRK1A):c.1935C>T (p.Ser645=)
|
|
|
NM_001347721.2(DYRK1A):c.1936A>G (p.Met646Val)
|
|
|
NM_001347721.2(DYRK1A):c.1938G>T (p.Met646Ile)
|
rs2053772977
|
|
NM_001347721.2(DYRK1A):c.1943_1960delinsTC (p.Ser648fs)
|
|
|
NM_001347721.2(DYRK1A):c.1957A>G (p.Thr653Ala)
|
|
|
NM_001347721.2(DYRK1A):c.1958C>T (p.Thr653Met)
|
|
|
NM_001347721.2(DYRK1A):c.196C>G (p.Leu66Val)
|
|
|
NM_001347721.2(DYRK1A):c.196_200del (p.Pro65_Leu66insTer)
|
|
|
NM_001347721.2(DYRK1A):c.1970C>T (p.Ser657Leu)
|
rs1555995028
|
|
NM_001347721.2(DYRK1A):c.1972A>G (p.Thr658Ala)
|
|
|
NM_001347721.2(DYRK1A):c.197dup (p.Thr67fs)
|
|
|
NM_001347721.2(DYRK1A):c.1987A>G (p.Thr663Ala)
|
|
|
NM_001347721.2(DYRK1A):c.198A>G (p.Leu66=)
|
|
|
NM_001347721.2(DYRK1A):c.1995C>T (p.Asn665=)
|
|
|
NM_001347721.2(DYRK1A):c.19A>G (p.Thr7Ala)
|
rs2052265794
|
|
NM_001347721.2(DYRK1A):c.2014del (p.Gln672fs)
|
|
|
NM_001347721.2(DYRK1A):c.2015A>G (p.Gln672Arg)
|
rs2148662907
|
|
NM_001347721.2(DYRK1A):c.2018A>G (p.Asn673Ser)
|
|
|
NM_001347721.2(DYRK1A):c.201_204del (p.Asn68fs)
|
rs1569355102
|
|
NM_001347721.2(DYRK1A):c.2021G>A (p.Arg674His)
|
rs1601335825
|
|
NM_001347721.2(DYRK1A):c.2022C>A (p.Arg674=)
|
|
|
NM_001347721.2(DYRK1A):c.2027T>A (p.Val676Glu)
|
|
|
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.2040C>T (p.Thr680=)
|
|
|
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.205C>T (p.Gln69Ter)
|
rs1555977171
|
|
NM_001347721.2(DYRK1A):c.2060_2062dup (p.Gly687_Ala688insGly)
|
|
|
NM_001347721.2(DYRK1A):c.2069A>G (p.Asp690Gly)
|
|
|
NM_001347721.2(DYRK1A):c.207+7T>C
|
rs2148556940
|
|
NM_001347721.2(DYRK1A):c.2077T>C (p.Leu693=)
|
|
|
NM_001347721.2(DYRK1A):c.208-14T>A
|
|
|
NM_001347721.2(DYRK1A):c.208-17A>G
|
rs2148571354
|
|
NM_001347721.2(DYRK1A):c.208-28G>A
|
rs552103257
|
|
NM_001347721.2(DYRK1A):c.208-28G>C
|
rs552103257
|
|
NM_001347721.2(DYRK1A):c.208-30A>G
|
|
|
NM_001347721.2(DYRK1A):c.208-34A>C
|
|
|
NM_001347721.2(DYRK1A):c.208-34A>G
|
rs201001986
|
|
NM_001347721.2(DYRK1A):c.208-38_208-35del
|
rs1064794918
|
|
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.208dup (p.Arg70fs)
|
|
|
NM_001347721.2(DYRK1A):c.2095C>A (p.Pro699Thr)
|
|
|
NM_001347721.2(DYRK1A):c.2103A>G (p.Gln701=)
|
rs991343149
|
|
NM_001347721.2(DYRK1A):c.210dup (p.Arg71fs)
|
rs2148571400
|
|
NM_001347721.2(DYRK1A):c.2113A>G (p.Ile705Val)
|
|
|
NM_001347721.2(DYRK1A):c.211C>T (p.Arg71Trp)
|
rs770246267
|
|
NM_001347721.2(DYRK1A):c.212G>T (p.Arg71Leu)
|
rs144261969
|
|
NM_001347721.2(DYRK1A):c.2130A>T (p.Thr710=)
|
rs759397951
|
|
NM_001347721.2(DYRK1A):c.2137T>G (p.Phe713Val)
|
rs1601336491
|
|
NM_001347721.2(DYRK1A):c.2141C>A (p.Ser714Tyr)
|
rs572876706
|
|
NM_001347721.2(DYRK1A):c.2141C>G (p.Ser714Cys)
|
|
|
NM_001347721.2(DYRK1A):c.2145T>C (p.Ala715=)
|
rs1173777263
|
|
NM_001347721.2(DYRK1A):c.2146A>G (p.Asn716Asp)
|
|
|
NM_001347721.2(DYRK1A):c.2148T>C (p.Asn716=)
|
|
|
NM_001347721.2(DYRK1A):c.214A>G (p.Met72Val)
|
|
|
NM_001347721.2(DYRK1A):c.2151A>G (p.Thr717=)
|
rs1395835856
|
|
NM_001347721.2(DYRK1A):c.2162A>G (p.His721Arg)
|
|
|
NM_001347721.2(DYRK1A):c.2177G>A (p.Gly726Glu)
|
rs1398691994
|
|
NM_001347721.2(DYRK1A):c.2187A>G (p.Thr729=)
|
rs2148663307
|
|
NM_001347721.2(DYRK1A):c.2188A>G (p.Met730Val)
|
rs201958918
|
|
NM_001347721.2(DYRK1A):c.2188A>T (p.Met730Leu)
|
rs201958918
|
|
NM_001347721.2(DYRK1A):c.2200G>C (p.Ala734Pro)
|
rs1413667922
|
|
NM_001347721.2(DYRK1A):c.2204A>T (p.Asp735Val)
|
|
|
NM_001347721.2(DYRK1A):c.2216C>T (p.Ser739Phe)
|
rs887440216
|
|
NM_001347721.2(DYRK1A):c.2219C>T (p.Pro740Leu)
|
rs753226962
|
|
NM_001347721.2(DYRK1A):c.2220C>T (p.Pro740=)
|
|
|
NM_001347721.2(DYRK1A):c.2220dup (p.Met741fs)
|
rs2053783768
|
|
NM_001347721.2(DYRK1A):c.2227G>A (p.Gly743Arg)
|
|
|
NM_001347721.2(DYRK1A):c.2227G>C (p.Gly743Arg)
|
|
|
NM_001347721.2(DYRK1A):c.2237_2238del (p.Val746fs)
|
|
|
NM_001347721.2(DYRK1A):c.2253A>G (p.Val751=)
|
rs2148663425
|
|
NM_001347721.2(DYRK1A):c.2257A>G (p.Ser753Gly)
|
|
|
NM_001347721.2(DYRK1A):c.225C>G (p.Thr75=)
|
|
|
NM_001347721.2(DYRK1A):c.225C>T (p.Thr75=)
|
|
|
NM_001347721.2(DYRK1A):c.2262G>T (p.Ser754=)
|
rs778873782
|
|
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.237A>G (p.Pro79=)
|
|
|
NM_001347721.2(DYRK1A):c.238G>A (p.Ala80Thr)
|
rs2148571533
|
|
NM_001347721.2(DYRK1A):c.241A>T (p.Thr81Ser)
|
|
|
NM_001347721.2(DYRK1A):c.250_251del (p.Leu84fs)
|
rs2148571595
|
|
NM_001347721.2(DYRK1A):c.254G>T (p.Arg85Ile)
|
|
|
NM_001347721.2(DYRK1A):c.258A>G (p.Lys86=)
|
|
|
NM_001347721.2(DYRK1A):c.262T>A (p.Ser88Thr)
|
|
|
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs)
|
rs1064793546
|
|
NM_001347721.2(DYRK1A):c.267_268dup (p.Asp90fs)
|
rs2148571670
|
|
NM_001347721.2(DYRK1A):c.270C>T (p.Asp90=)
|
|
|
NM_001347721.2(DYRK1A):c.270_274del (p.Leu91fs)
|
rs1057519402
|
|
NM_001347721.2(DYRK1A):c.284dup (p.Tyr95Ter)
|
rs1555979158
|
|
NM_001347721.2(DYRK1A):c.285C>A (p.Tyr95Ter)
|
rs797044519
|
|
NM_001347721.2(DYRK1A):c.285C>G (p.Tyr95Ter)
|
rs797044519
|
|
NM_001347721.2(DYRK1A):c.286A>T (p.Lys96Ter)
|
|
|
NM_001347721.2(DYRK1A):c.288G>A (p.Lys96=)
|
|
|
NM_001347721.2(DYRK1A):c.293_294dup (p.Asn99fs)
|
rs2148571757
|
|
NM_001347721.2(DYRK1A):c.300+15G>T
|
|
|
NM_001347721.2(DYRK1A):c.300+19T>C
|
|
|
NM_001347721.2(DYRK1A):c.300+22_300+24del
|
rs770090676
|
|
NM_001347721.2(DYRK1A):c.300+7C>T
|
rs537532878
|
|
NM_001347721.2(DYRK1A):c.301-13A>G
|
rs2148581956
|
|
NM_001347721.2(DYRK1A):c.301-18T>C
|
rs769082928
|
|
NM_001347721.2(DYRK1A):c.301-2A>C
|
|
|
NM_001347721.2(DYRK1A):c.301-9T>A
|
|
|
NM_001347721.2(DYRK1A):c.321G>A (p.Lys107=)
|
|
|
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter)
|
rs1057518204
|
|
NM_001347721.2(DYRK1A):c.331C>T (p.Gln111Ter)
|
rs1555980223
|
|
NM_001347721.2(DYRK1A):c.334C>T (p.Gln112Ter)
|
rs1555980234
|
|
NM_001347721.2(DYRK1A):c.348C>G (p.Asp116Glu)
|
rs150200258
|
|
NM_001347721.2(DYRK1A):c.363G>C (p.Lys121Asn)
|
rs991834315
|
|
NM_001347721.2(DYRK1A):c.365A>G (p.Lys122Arg)
|
|
|
NM_001347721.2(DYRK1A):c.367G>T (p.Glu123Ter)
|
|
|
NM_001347721.2(DYRK1A):c.376G>A (p.Val126Ile)
|
rs1297803457
|
|
NM_001347721.2(DYRK1A):c.383A>G (p.Asn128Ser)
|
rs758001054
|
|
NM_001347721.2(DYRK1A):c.399T>C (p.Asp133=)
|
rs2052609245
|
|
NM_001347721.2(DYRK1A):c.404A>G (p.Asn135Ser)
|
rs1601230964
|
|
NM_001347721.2(DYRK1A):c.406T>C (p.Tyr136His)
|
|
|
NM_001347721.2(DYRK1A):c.413A>G (p.Tyr138Cys)
|
|
|
NM_001347721.2(DYRK1A):c.421A>G (p.Lys141Glu)
|
|
|
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs)
|
rs797044523
|
|
NM_001347721.2(DYRK1A):c.427G>A (p.Gly143Arg)
|
|
|
NM_001347721.2(DYRK1A):c.433_439del (p.Lys145fs)
|
rs2148582438
|
|
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs)
|
rs797044521
|
|
NM_001347721.2(DYRK1A):c.436T>C (p.Trp146Arg)
|
|
|
NM_001347721.2(DYRK1A):c.43G>A (p.Val15Ile)
|
rs780200883
|
|
NM_001347721.2(DYRK1A):c.440T>C (p.Met147Thr)
|
|
|
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter)
|
rs1057516030
|
|
NM_001347721.2(DYRK1A):c.450C>G (p.Tyr150Ter)
|
rs1049773
|
|
NM_001347721.2(DYRK1A):c.451G>A (p.Glu151Lys)
|
rs1470299902
|
|
NM_001347721.2(DYRK1A):c.468A>C (p.Ile156=)
|
|
|
NM_001347721.2(DYRK1A):c.471del (p.Gly159fs)
|
rs2052612564
|
|
NM_001347721.2(DYRK1A):c.473A>G (p.Lys158Arg)
|
|
|
NM_001347721.2(DYRK1A):c.475G>C (p.Gly159Arg)
|
|
|
NM_001347721.2(DYRK1A):c.476G>T (p.Gly159Val)
|
rs1064796406
|
|
NM_001347721.2(DYRK1A):c.47G>A (p.Arg16Gln)
|
rs1057175147
|
|
NM_001347721.2(DYRK1A):c.484G>A (p.Gly162Arg)
|
rs1555980467
|
|
NM_001347721.2(DYRK1A):c.488A>G (p.Gln163Arg)
|
rs2148582640
|
|
NM_001347721.2(DYRK1A):c.489+2T>C
|
rs2052613493
|
|
NM_001347721.2(DYRK1A):c.489+4A>G
|
rs1363692911
|
|
NM_001347721.2(DYRK1A):c.490-13T>A
|
|
|
NM_001347721.2(DYRK1A):c.490-13T>C
|
|
|
NM_001347721.2(DYRK1A):c.490-16_490-13del
|
|
|
NM_001347721.2(DYRK1A):c.490-18A>T
|
|
|
NM_001347721.2(DYRK1A):c.490-1G>C
|
|
|
NM_001347721.2(DYRK1A):c.490-3T>G
|
|
|
NM_001347721.2(DYRK1A):c.490-8T>C
|
rs1022823193
|
|
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.506A>G (p.Asp169Gly)
|
rs1131691866
|
|
NM_001347721.2(DYRK1A):c.507dup (p.Arg170fs)
|
rs1569370887
|
|
NM_001347721.2(DYRK1A):c.509G>A (p.Arg170His)
|
|
|
NM_001347721.2(DYRK1A):c.522A>G (p.Glu174=)
|
|
|
NM_001347721.2(DYRK1A):c.536A>T (p.Lys179Ile)
|
rs797044524
|
|
NM_001347721.2(DYRK1A):c.536_538del (p.Lys179del)
|
rs2052872878
|
|
NM_001347721.2(DYRK1A):c.540A>C (p.Ile180=)
|
|
|
NM_001347721.2(DYRK1A):c.542_545del (p.Ile181fs)
|
rs1555982601
|
|
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)
|
rs1064796367
|
|
NM_001347721.2(DYRK1A):c.54A>G (p.Ala18=)
|
rs2148556390
|
|
NM_001347721.2(DYRK1A):c.550_551del (p.Lys184fs)
|
|
|
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.578T>C (p.Ile193Thr)
|
|
|
NM_001347721.2(DYRK1A):c.57G>A (p.Pro19=)
|
|
|
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)
|
rs724159949
|
|
NM_001347721.2(DYRK1A):c.593T>C (p.Leu198Pro)
|
|
|
NM_001347721.2(DYRK1A):c.600C>T (p.Leu200=)
|
rs1385516854
|
|
NM_001347721.2(DYRK1A):c.60A>G (p.Ser20=)
|
|
|
NM_001347721.2(DYRK1A):c.618_619dup (p.Glu207fs)
|
|
|
NM_001347721.2(DYRK1A):c.625A>T (p.Lys209Ter)
|
|
|
NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter)
|
rs746177928
|
|
NM_001347721.2(DYRK1A):c.637+10C>G
|
|
|
NM_001347721.2(DYRK1A):c.637+12G>A
|
|
|
NM_001347721.2(DYRK1A):c.637+19A>G
|
|
|
NM_001347721.2(DYRK1A):c.637+20G>A
|
|
|
NM_001347721.2(DYRK1A):c.637+2T>C
|
rs1569371303
|
|
NM_001347721.2(DYRK1A):c.637+2_637+13del
|
|
|
NM_001347721.2(DYRK1A):c.637+2dup
|
rs2148601107
|
|
NM_001347721.2(DYRK1A):c.637+8_637+11del
|
rs764954220
|
|
NM_001347721.2(DYRK1A):c.638-11T>C
|
rs1310426800
|
|
NM_001347721.2(DYRK1A):c.638-13T>C
|
|
|
NM_001347721.2(DYRK1A):c.638-14G>A
|
|
|
NM_001347721.2(DYRK1A):c.638-14_638-13del
|
rs1029281009
|
|
NM_001347721.2(DYRK1A):c.638-15T>C
|
|
|
NM_001347721.2(DYRK1A):c.638-1G>A
|
rs2148612254
|
|
NM_001347721.2(DYRK1A):c.638-1G>T
|
rs2148612254
|
|
NM_001347721.2(DYRK1A):c.638-20_638-16del
|
rs777203601
|
|
NM_001347721.2(DYRK1A):c.638-6T>C
|
rs2148612226
|
|
NM_001347721.2(DYRK1A):c.638-9_638-5del
|
|
|
NM_001347721.2(DYRK1A):c.640dup (p.His214fs)
|
|
|
NM_001347721.2(DYRK1A):c.657del (p.Phe219fs)
|
|
|
NM_001347721.2(DYRK1A):c.658A>T (p.Met220Leu)
|
|
|
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs)
|
rs1555984102
|
|
NM_001347721.2(DYRK1A):c.660G>A (p.Met220Ile)
|
|
|
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter)
|
rs780441716
|
|
NM_001347721.2(DYRK1A):c.675_676del (p.Cys226fs)
|
rs1601267617
|
|
NM_001347721.2(DYRK1A):c.684T>A (p.Val228=)
|
|
|
NM_001347721.2(DYRK1A):c.687del (p.Phe229fs)
|
rs2053036372
|
|
NM_001347721.2(DYRK1A):c.693G>A (p.Met231Ile)
|
rs747214593
|
|
NM_001347721.2(DYRK1A):c.694C>T (p.Leu232=)
|
rs2148612458
|
|
NM_001347721.2(DYRK1A):c.701dup (p.Tyr234Ter)
|
|
|
NM_001347721.2(DYRK1A):c.707T>C (p.Leu236Pro)
|
|
|
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg)
|
rs797044525
|
|
NM_001347721.2(DYRK1A):c.708C>G (p.Leu236=)
|
|
|
NM_001347721.2(DYRK1A):c.728C>G (p.Thr243Ser)
|
|
|
NM_001347721.2(DYRK1A):c.732T>C (p.Asn244=)
|
|
|
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)
|
rs724159948
|
|
NM_001347721.2(DYRK1A):c.747T>C (p.Ser249=)
|
rs1271779380
|
|
NM_001347721.2(DYRK1A):c.748_749del (p.Leu250fs)
|
rs2148612654
|
|
NM_001347721.2(DYRK1A):c.754C>T (p.Leu252=)
|
|
|
NM_001347721.2(DYRK1A):c.756A>G (p.Leu252=)
|
|
|
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter)
|
rs886041291
|
|
NM_001347721.2(DYRK1A):c.763A>T (p.Lys255Ter)
|
rs1555984237
|
|
NM_001347721.2(DYRK1A):c.764A>C (p.Lys255Thr)
|
|
|
NM_001347721.2(DYRK1A):c.76G>A (p.Ala26Thr)
|
rs2148556430
|
|
NM_001347721.2(DYRK1A):c.771G>T (p.Ala257=)
|
rs774148181
|
|
NM_001347721.2(DYRK1A):c.772C>T (p.Gln258Ter)
|
rs1555984245
|
|
NM_001347721.2(DYRK1A):c.774A>G (p.Gln258=)
|
|
|
NM_001347721.2(DYRK1A):c.777G>A (p.Gln259=)
|
rs1555984261
|
|
NM_001347721.2(DYRK1A):c.785C>G (p.Thr262Ser)
|
|
|
NM_001347721.2(DYRK1A):c.789A>G (p.Ala263=)
|
rs752384587
|
|
NM_001347721.2(DYRK1A):c.78T>A (p.Ala26=)
|
rs896508492
|
|
NM_001347721.2(DYRK1A):c.790C>T (p.Leu264=)
|
|
|
NM_001347721.2(DYRK1A):c.7A>G (p.Thr3Ala)
|
rs2148427299
|
|
NM_001347721.2(DYRK1A):c.816T>C (p.Leu272=)
|
rs537163064
|
|
NM_001347721.2(DYRK1A):c.820A>G (p.Ile274Val)
|
|
|
NM_001347721.2(DYRK1A):c.822dup (p.Ile275fs)
|
|
|
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg)
|
rs2148612918
|
|
NM_001347721.2(DYRK1A):c.830G>A (p.Cys277Tyr)
|
rs2148612925
|
|
NM_001347721.2(DYRK1A):c.833A>G (p.Asp278Gly)
|
rs1555984343
|
|
NM_001347721.2(DYRK1A):c.833A>T (p.Asp278Val)
|
rs1555984343
|
|
NM_001347721.2(DYRK1A):c.840del (p.Lys280fs)
|
|
|
NM_001347721.2(DYRK1A):c.840dup (p.Pro281fs)
|
rs2148612955
|
|
NM_001347721.2(DYRK1A):c.848A>G (p.Asn283Ser)
|
|
|
NM_001347721.2(DYRK1A):c.848del (p.Asn283fs)
|
|
|
NM_001347721.2(DYRK1A):c.848dup (p.Asn283fs)
|
|
|
NM_001347721.2(DYRK1A):c.850A>G (p.Ile284Val)
|
rs1384337682
|
|
NM_001347721.2(DYRK1A):c.851T>C (p.Ile284Thr)
|
|
|
NM_001347721.2(DYRK1A):c.852C>A (p.Ile284=)
|
|
|
NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe)
|
rs797044526
|
|
NM_001347721.2(DYRK1A):c.868A>G (p.Lys290Glu)
|
|
|
NM_001347721.2(DYRK1A):c.871C>T (p.Arg291Cys)
|
|
|
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.88A>G (p.Met30Val)
|
rs762466544
|
|
NM_001347721.2(DYRK1A):c.88A>T (p.Met30Leu)
|
|
|
NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val)
|
rs797045540
|
|
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser)
|
rs1569376809
|
|
NM_001347721.2(DYRK1A):c.902G>A (p.Ser301Asn)
|
|
|
NM_001347721.2(DYRK1A):c.905C>T (p.Ser302Phe)
|
rs1039571136
|
|
NM_001347721.2(DYRK1A):c.910C>T (p.Gln304Ter)
|
rs1555984433
|
|
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+12T>A
|
rs2053049031
|
|
NM_001347721.2(DYRK1A):c.924+14C>T
|
|
|
NM_001347721.2(DYRK1A):c.924+1G>A
|
rs2148613196
|
|
NM_001347721.2(DYRK1A):c.924+1G>C
|
rs2148613196
|
|
NM_001347721.2(DYRK1A):c.924+4_924+7del
|
rs1555984461
|
|
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.925-17T>C
|
rs756282570
|
|
NM_001347721.2(DYRK1A):c.925-1G>C
|
rs2148619382
|
|
NM_001347721.2(DYRK1A):c.925-3C>T
|
|
|
NM_001347721.2(DYRK1A):c.925-9A>G
|
rs375904128
|
|
NM_001347721.2(DYRK1A):c.930C>A (p.Tyr310Ter)
|
|
|
NM_001347721.2(DYRK1A):c.930C>G (p.Tyr310Ter)
|
|
|
NM_001347721.2(DYRK1A):c.931C>T (p.Gln311Ter)
|
rs1555985524
|
|
NM_001347721.2(DYRK1A):c.931_932del (p.Gln311fs)
|
rs2148619406
|
|
NM_001347721.2(DYRK1A):c.940C>T (p.Gln314Ter)
|
rs1555985532
|
|
NM_001347721.2(DYRK1A):c.944G>A (p.Ser315Asn)
|
|
|
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg)
|
rs1569380375
|
|
NM_001347721.2(DYRK1A):c.948_949insGG (p.Phe317fs)
|
|
|
NM_001347721.2(DYRK1A):c.953A>G (p.Tyr318Cys)
|
rs1555985554
|
|
NM_001347721.2(DYRK1A):c.956G>A (p.Arg319Gln)
|
|
|
NM_001347721.2(DYRK1A):c.957_960del (p.Ser320fs)
|
|
|
NM_001347721.2(DYRK1A):c.95G>T (p.Gly32Val)
|
|
|
NM_001347721.2(DYRK1A):c.962C>T (p.Pro321Leu)
|
rs2053148979
|
|
NM_001347721.2(DYRK1A):c.963A>C (p.Pro321=)
|
rs2148619474
|
|
NM_001347721.2(DYRK1A):c.964G>A (p.Glu322Lys)
|
|
|
NM_001347721.2(DYRK1A):c.96A>T (p.Gly32=)
|
|
|
NM_001347721.2(DYRK1A):c.975G>A (p.Leu325=)
|
rs1057524118
|
|
NM_001347721.2(DYRK1A):c.980_981insCCCA (p.Met327fs)
|
rs2053150009
|
|
NM_001347721.2(DYRK1A):c.984T>G (p.Pro328=)
|
|
|
NM_001347721.2(DYRK1A):c.985dup (p.Tyr329fs)
|
|
|
NM_001347721.2(DYRK1A):c.986A>G (p.Tyr329Cys)
|
|
|
NM_001347721.2(DYRK1A):c.986dup (p.Tyr329Ter)
|
|
|
NM_001347721.2(DYRK1A):c.987T>G (p.Tyr329Ter)
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rs886041658
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NM_001347721.2(DYRK1A):c.988G>T (p.Asp330Tyr)
|
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NM_001347721.2(DYRK1A):c.990C>T (p.Asp330=)
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rs1316652791
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