NM_001347721.2(DYRK1A):c.924+99C>T
|
rs67837743
|
0.99996
|
NM_001347721.2(DYRK1A):c.300+38G>A
|
rs928763
|
0.86339
|
NM_001347721.2(DYRK1A):c.-76-9690T>C
|
rs9981736
|
0.56259
|
NM_001347721.2(DYRK1A):c.638-104T>A
|
rs4817865
|
0.43664
|
NM_001347721.2(DYRK1A):c.1071+42C>G
|
rs2835772
|
0.32227
|
NM_001347721.2(DYRK1A):c.-76-1445A>G
|
rs2835725
|
0.27970
|
NM_001347721.2(DYRK1A):c.1072-309A>T
|
rs8134408
|
0.27796
|
NM_001347721.2(DYRK1A):c.301-212G>A
|
rs2298330
|
0.13309
|
NM_001347721.2(DYRK1A):c.-324A>C
|
rs143156892
|
0.12912
|
NM_001347721.2(DYRK1A):c.1213-83T>G
|
rs2186339
|
0.11849
|
NM_001347721.2(DYRK1A):c.-76-1065A>G
|
rs17814675
|
0.11204
|
NM_001347721.2(DYRK1A):c.11-226T>A
|
rs17229402
|
0.10514
|
NM_001347721.2(DYRK1A):c.1072-294T>G
|
rs56031299
|
0.08815
|
NM_001347721.2(DYRK1A):c.11-175C>T
|
rs16995167
|
0.06923
|
NM_001347721.2(DYRK1A):c.-161C>T
|
rs28565161
|
0.06008
|
NM_001347721.2(DYRK1A):c.207+273G>A
|
rs16995170
|
0.05795
|
NM_001347721.2(DYRK1A):c.207+112G>A
|
rs2898316
|
0.04617
|
NM_001347721.2(DYRK1A):c.300+157G>A
|
rs10211972
|
0.04132
|
NM_001347721.2(DYRK1A):c.207+168T>A
|
rs73903997
|
0.04060
|
NM_001347721.2(DYRK1A):c.1072-308T>A
|
rs76527453
|
0.03842
|
NM_001347721.2(DYRK1A):c.-76-9646C>T
|
rs55839411
|
0.03729
|
NM_001347721.2(DYRK1A):c.-76-1479G>A
|
rs116906519
|
0.01726
|
NM_001347721.2(DYRK1A):c.924+80C>T
|
rs75710305
|
0.01080
|
NM_001347721.2(DYRK1A):c.208-201C>G
|
rs139014710
|
0.01051
|
NM_001347721.2(DYRK1A):c.207+273_207+277del
|
rs565548361
|
0.01014
|
NM_001347721.2(DYRK1A):c.1520-74A>T
|
rs73220418
|
0.00744
|
NM_001347721.2(DYRK1A):c.300+233A>C
|
rs186040428
|
0.00668
|
NM_001347721.2(DYRK1A):c.207+292A>G
|
rs73400121
|
0.00493
|
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro)
|
rs55720916
|
0.00446
|
NM_001347721.2(DYRK1A):c.638-100T>C
|
rs141005003
|
0.00441
|
NM_001347721.2(DYRK1A):c.1213-42T>G
|
rs188224885
|
0.00428
|
NM_001347721.2(DYRK1A):c.208-40C>G
|
rs140466090
|
0.00297
|
NM_001347721.2(DYRK1A):c.490-111del
|
rs560344996
|
0.00248
|
NM_001347721.2(DYRK1A):c.924+22G>A
|
rs200834016
|
0.00232
|
NM_001347721.2(DYRK1A):c.1212+31T>G
|
rs79423895
|
0.00205
|
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala)
|
rs145857775
|
0.00186
|
NM_001347721.2(DYRK1A):c.-76-1713A>G
|
rs144634707
|
0.00158
|
NM_001347721.2(DYRK1A):c.1213-22C>G
|
rs192798538
|
0.00142
|
NM_001347721.2(DYRK1A):c.1644+73C>A
|
rs200322053
|
0.00068
|
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.925-48C>T
|
rs118022631
|
0.00041
|
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.1649G>A (p.Arg550His)
|
rs144190333
|
0.00014
|
NM_001347721.2(DYRK1A):c.1998A>C (p.Gln666His)
|
rs756785454
|
0.00014
|
NM_001347721.2(DYRK1A):c.333A>G (p.Gln111=)
|
rs370463929
|
0.00014
|
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.-76-12T>C
|
rs1038133301
|
0.00009
|
NM_001347721.2(DYRK1A):c.1644+86C>T
|
rs184784885
|
0.00009
|
NM_001347721.2(DYRK1A):c.1818T>C (p.His606=)
|
rs372827991
|
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.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.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.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.2020C>T (p.Arg674Cys)
|
rs201554841
|
0.00004
|
NM_001347721.2(DYRK1A):c.450C>T (p.Tyr150=)
|
rs1049773
|
0.00004
|
NM_001347721.2(DYRK1A):c.1644+9G>A
|
rs750741834
|
0.00003
|
NM_001347721.2(DYRK1A):c.1853G>A (p.Arg618Gln)
|
rs761460441
|
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.819T>C (p.Ser273=)
|
rs2053044037
|
0.00003
|
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.1311C>T (p.Val437=)
|
rs149417608
|
0.00002
|
NM_001347721.2(DYRK1A):c.1698A>C (p.Thr566=)
|
rs375157979
|
0.00002
|
NM_001347721.2(DYRK1A):c.1705A>G (p.Thr569Ala)
|
rs774075762
|
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.-1G>A
|
rs780371719
|
0.00001
|
NM_001347721.2(DYRK1A):c.11-40A>C
|
rs537018575
|
0.00001
|
NM_001347721.2(DYRK1A):c.1118C>T (p.Ala373Val)
|
rs1064796623
|
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.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.1461C>T (p.Ser487=)
|
rs1333054024
|
0.00001
|
NM_001347721.2(DYRK1A):c.1464C>T (p.Pro488=)
|
rs541193560
|
0.00001
|
NM_001347721.2(DYRK1A):c.1530G>A (p.Ser510=)
|
rs576270503
|
0.00001
|
NM_001347721.2(DYRK1A):c.154C>G (p.Gln52Glu)
|
rs1555977083
|
0.00001
|
NM_001347721.2(DYRK1A):c.1642C>G (p.Gln548Glu)
|
rs1131692019
|
0.00001
|
NM_001347721.2(DYRK1A):c.1644+18T>C
|
rs755097100
|
0.00001
|
NM_001347721.2(DYRK1A):c.1648C>T (p.Arg550Cys)
|
rs757222616
|
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.1893C>T (p.Ser631=)
|
rs1057523331
|
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.2085C>G (p.Val695=)
|
rs372748919
|
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.267T>G (p.Val89=)
|
rs1049767
|
0.00001
|
NM_001347721.2(DYRK1A):c.489+22A>G
|
rs772119851
|
0.00001
|
NM_001347721.2(DYRK1A):c.672T>C (p.His224=)
|
rs113868802
|
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(chr21:38721309-38803816)x1
|
|
|
GRCh37/hg19 21q22.13(chr21:38789355-38812821)x1
|
|
|
NM_001347721.2(DYRK1A):c.*142dup
|
rs36065358
|
|
NM_001347721.2(DYRK1A):c.-76-13T>A
|
|
|
NM_001347721.2(DYRK1A):c.-76-147_-76-144dup
|
rs138013864
|
|
NM_001347721.2(DYRK1A):c.-76-211dup
|
rs140342279
|
|
NM_001347721.2(DYRK1A):c.10+104_10+106del
|
rs143066663
|
|
NM_001347721.2(DYRK1A):c.1001A>G (p.Asp334Gly)
|
rs1601280230
|
|
NM_001347721.2(DYRK1A):c.1008G>A (p.Trp336Ter)
|
rs1555985642
|
|
NM_001347721.2(DYRK1A):c.1015G>T (p.Gly339Trp)
|
rs2053152079
|
|
NM_001347721.2(DYRK1A):c.1025del (p.Leu342fs)
|
rs1064794894
|
|
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_1071+8del
|
rs886041765
|
|
NM_001347721.2(DYRK1A):c.1098del (p.Val367fs)
|
rs886039652
|
|
NM_001347721.2(DYRK1A):c.11-16394C>T
|
|
|
NM_001347721.2(DYRK1A):c.1106G>T (p.Gly369Val)
|
rs1384236840
|
|
NM_001347721.2(DYRK1A):c.1112del (p.Pro371fs)
|
rs2148627581
|
|
NM_001347721.2(DYRK1A):c.1132C>T (p.Gln378Ter)
|
rs1555987107
|
|
NM_001347721.2(DYRK1A):c.1158T>G (p.Phe386Leu)
|
rs2053264281
|
|
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.1190_1193del (p.Lys397fs)
|
rs2148627802
|
|
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.1212+1G>A
|
rs2053266370
|
|
NM_001347721.2(DYRK1A):c.1214_1217dup (p.Tyr406Ter)
|
rs2148649404
|
|
NM_001347721.2(DYRK1A):c.1221del (p.Lys407fs)
|
rs1064794006
|
|
NM_001347721.2(DYRK1A):c.1230A>G (p.Gly410=)
|
|
|
NM_001347721.2(DYRK1A):c.1237A>T (p.Lys413Ter)
|
rs1131691909
|
|
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.1306dup (p.Thr436fs)
|
rs1555990855
|
|
NM_001347721.2(DYRK1A):c.1343_1346dup (p.Arg449fs)
|
rs1601316350
|
|
NM_001347721.2(DYRK1A):c.1351_1354del (p.Leu451fs)
|
rs886041993
|
|
NM_001347721.2(DYRK1A):c.1353T>G (p.Leu451=)
|
rs1601316386
|
|
NM_001347721.2(DYRK1A):c.1357dup (p.Tyr453fs)
|
rs1131691661
|
|
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.1373dup (p.Ile459fs)
|
rs1555990946
|
|
NM_001347721.2(DYRK1A):c.1378C>T (p.Gln460Ter)
|
rs1555990955
|
|
NM_001347721.2(DYRK1A):c.1433C>T (p.Thr478Ile)
|
|
|
NM_001347721.2(DYRK1A):c.143dup (p.Ser49fs)
|
rs1555977071
|
|
NM_001347721.2(DYRK1A):c.1444A>C (p.Asn482His)
|
rs1555991038
|
|
NM_001347721.2(DYRK1A):c.1445_1446delinsTCTACA (p.Asn482fs)
|
rs1064796713
|
|
NM_001347721.2(DYRK1A):c.1502_1506del (p.Ser501fs)
|
rs2148650304
|
|
NM_001347721.2(DYRK1A):c.1506A>G (p.Thr502=)
|
|
|
NM_001347721.2(DYRK1A):c.1519+1G>A
|
rs1064796316
|
|
NM_001347721.2(DYRK1A):c.151C>T (p.Gln51Ter)
|
rs1555977077
|
|
NM_001347721.2(DYRK1A):c.1520-2A>G
|
rs1555991325
|
|
NM_001347721.2(DYRK1A):c.1543A>G (p.Ser515Gly)
|
|
|
NM_001347721.2(DYRK1A):c.1570C>T (p.His524Tyr)
|
|
|
NM_001347721.2(DYRK1A):c.1589G>A (p.Gly530Asp)
|
|
|
NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter)
|
rs869312708
|
|
NM_001347721.2(DYRK1A):c.1626C>A (p.Cys542Ter)
|
rs376106351
|
|
NM_001347721.2(DYRK1A):c.1644+87G>A
|
rs766703434
|
|
NM_001347721.2(DYRK1A):c.1665T>C (p.Ala555=)
|
rs1569404928
|
|
NM_001347721.2(DYRK1A):c.1691C>T (p.Ala564Val)
|
rs2148662056
|
|
NM_001347721.2(DYRK1A):c.1729_1732del (p.Glu577fs)
|
|
|
NM_001347721.2(DYRK1A):c.1743dup (p.Val582fs)
|
rs2148662184
|
|
NM_001347721.2(DYRK1A):c.1750C>T (p.Pro584Ser)
|
rs1237319453
|
|
NM_001347721.2(DYRK1A):c.1772A>G (p.His591Arg)
|
|
|
NM_001347721.2(DYRK1A):c.1798C>T (p.His600Tyr)
|
rs2148662371
|
|
NM_001347721.2(DYRK1A):c.1800_1811del (p.His607_His610del)
|
rs1569405356
|
|
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.1810C>G (p.His604Asp)
|
rs2148662413
|
|
NM_001347721.2(DYRK1A):c.1821CCA[5] (p.His610_Gly611insHisHis)
|
|
|
NM_001347721.2(DYRK1A):c.1825C>T (p.His609Tyr)
|
|
|
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.1870T>A (p.Tyr624Asn)
|
|
|
NM_001347721.2(DYRK1A):c.187C>T (p.Gln63Ter)
|
rs373178770
|
|
NM_001347721.2(DYRK1A):c.1927C>T (p.His643Tyr)
|
|
|
NM_001347721.2(DYRK1A):c.1931A>G (p.His644Arg)
|
|
|
NM_001347721.2(DYRK1A):c.19A>G (p.Thr7Ala)
|
rs2052265794
|
|
NM_001347721.2(DYRK1A):c.2013C>A (p.Tyr671Ter)
|
rs1555995130
|
|
NM_001347721.2(DYRK1A):c.2046C>G (p.Asp682Glu)
|
rs1454442286
|
|
NM_001347721.2(DYRK1A):c.207+143_207+145del
|
rs35860351
|
|
NM_001347721.2(DYRK1A):c.208-14T>C
|
|
|
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.2085C>T (p.Val695=)
|
rs372748919
|
|
NM_001347721.2(DYRK1A):c.216G>A (p.Met72Ile)
|
rs1481588592
|
|
NM_001347721.2(DYRK1A):c.2186_2191delinsAGAG (p.Thr729fs)
|
rs1064795305
|
|
NM_001347721.2(DYRK1A):c.2188A>T (p.Met730Leu)
|
rs201958918
|
|
NM_001347721.2(DYRK1A):c.220dup (p.Gln74fs)
|
rs1555979106
|
|
NM_001347721.2(DYRK1A):c.2210A>G (p.Glu737Gly)
|
|
|
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.2237_2238del (p.Val746fs)
|
|
|
NM_001347721.2(DYRK1A):c.2261C>G (p.Ser754Trp)
|
rs771118827
|
|
NM_001347721.2(DYRK1A):c.250_251del (p.Leu84fs)
|
rs2148571595
|
|
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs)
|
rs1064793546
|
|
NM_001347721.2(DYRK1A):c.285C>A (p.Tyr95Ter)
|
rs797044519
|
|
NM_001347721.2(DYRK1A):c.317del (p.Lys106fs)
|
rs1555980192
|
|
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter)
|
rs1057518204
|
|
NM_001347721.2(DYRK1A):c.323G>A (p.Arg108Gln)
|
rs2148582050
|
|
NM_001347721.2(DYRK1A):c.331C>T (p.Gln111Ter)
|
rs1555980223
|
|
NM_001347721.2(DYRK1A):c.341del (p.Gln114fs)
|
rs886041833
|
|
NM_001347721.2(DYRK1A):c.363G>C (p.Lys121Asn)
|
rs991834315
|
|
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.411T>A (p.Asp137Glu)
|
rs2148582342
|
|
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs)
|
rs797044523
|
|
NM_001347721.2(DYRK1A):c.436T>A (p.Trp146Arg)
|
|
|
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>T (p.Lys158Ile)
|
|
|
NM_001347721.2(DYRK1A):c.474del (p.Gly159fs)
|
rs2052612748
|
|
NM_001347721.2(DYRK1A):c.476G>A (p.Gly159Asp)
|
rs1064796406
|
|
NM_001347721.2(DYRK1A):c.489+1G>A
|
|
|
NM_001347721.2(DYRK1A):c.489+2T>A
|
rs2052613493
|
|
NM_001347721.2(DYRK1A):c.490-1G>A
|
rs1064796939
|
|
NM_001347721.2(DYRK1A):c.497dup (p.Ala167fs)
|
rs2148600566
|
|
NM_001347721.2(DYRK1A):c.499G>T (p.Ala167Ser)
|
rs2052870452
|
|
NM_001347721.2(DYRK1A):c.506A>G (p.Asp169Gly)
|
rs1131691866
|
|
NM_001347721.2(DYRK1A):c.508_513del (p.Arg170_Val171del)
|
rs1064795563
|
|
NM_001347721.2(DYRK1A):c.511G>A (p.Val171Met)
|
|
|
NM_001347721.2(DYRK1A):c.517C>G (p.Gln173Glu)
|
|
|
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.550_552delinsTTCTT (p.Lys184fs)
|
rs1057518580
|
|
NM_001347721.2(DYRK1A):c.56C>T (p.Pro19Leu)
|
rs1056885794
|
|
NM_001347721.2(DYRK1A):c.574C>T (p.Gln192Ter)
|
rs1555982630
|
|
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)
|
rs724159949
|
|
NM_001347721.2(DYRK1A):c.606dup (p.Lys203fs)
|
rs1601253237
|
|
NM_001347721.2(DYRK1A):c.611A>G (p.His204Arg)
|
|
|
NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter)
|
rs746177928
|
|
NM_001347721.2(DYRK1A):c.636A>G (p.Ile212Met)
|
rs2148601089
|
|
NM_001347721.2(DYRK1A):c.637+22G>A
|
rs55650427
|
|
NM_001347721.2(DYRK1A):c.637+22G>C
|
rs55650427
|
|
NM_001347721.2(DYRK1A):c.638-101=
|
rs4817866
|
|
NM_001347721.2(DYRK1A):c.638-14_638-13del
|
rs1029281009
|
|
NM_001347721.2(DYRK1A):c.638-2A>G
|
rs1057518474
|
|
NM_001347721.2(DYRK1A):c.638-9_638-5del
|
|
|
NM_001347721.2(DYRK1A):c.641A>G (p.His214Arg)
|
rs1555984071
|
|
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter)
|
rs780441716
|
|
NM_001347721.2(DYRK1A):c.665G>A (p.Arg222Gln)
|
|
|
NM_001347721.2(DYRK1A):c.678_680delinsAC (p.Cys226_Leu227delinsTer)
|
rs1131691946
|
|
NM_001347721.2(DYRK1A):c.681_685del (p.Leu227fs)
|
|
|
NM_001347721.2(DYRK1A):c.695T>C (p.Leu232Pro)
|
rs1555984150
|
|
NM_001347721.2(DYRK1A):c.69C>A (p.Phe23Leu)
|
|
|
NM_001347721.2(DYRK1A):c.700_702delinsATAGAGGTTGT (p.Tyr234fs)
|
rs886039660
|
|
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)
|
rs724159948
|
|
NM_001347721.2(DYRK1A):c.748_749del (p.Leu250fs)
|
rs2148612654
|
|
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter)
|
rs886041291
|
|
NM_001347721.2(DYRK1A):c.764A>G (p.Lys255Arg)
|
|
|
NM_001347721.2(DYRK1A):c.765_767del (p.Lys255_Phe256delinsAsn)
|
rs1555984238
|
|
NM_001347721.2(DYRK1A):c.802G>C (p.Ala268Pro)
|
rs1064795422
|
|
NM_001347721.2(DYRK1A):c.814dup (p.Leu272fs)
|
rs1601269091
|
|
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg)
|
rs2148612918
|
|
NM_001347721.2(DYRK1A):c.833A>T (p.Asp278Val)
|
rs1555984343
|
|
NM_001347721.2(DYRK1A):c.853C>A (p.Leu285Ile)
|
|
|
NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe)
|
rs797044526
|
|
NM_001347721.2(DYRK1A):c.872G>A (p.Arg291His)
|
|
|
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser)
|
rs1569376809
|
|
NM_001347721.2(DYRK1A):c.905C>A (p.Ser302Tyr)
|
|
|
NM_001347721.2(DYRK1A):c.905C>T (p.Ser302Phe)
|
rs1039571136
|
|
NM_001347721.2(DYRK1A):c.924+2T>A
|
rs2053048647
|
|
NM_001347721.2(DYRK1A):c.924+4_924+7del
|
rs1555984461
|
|
NM_001347721.2(DYRK1A):c.925-11A>G
|
rs2148619358
|
|
NM_001347721.2(DYRK1A):c.925A>G (p.Ile309Val)
|
rs2148619384
|
|
NM_001347721.2(DYRK1A):c.940C>T (p.Gln314Ter)
|
rs1555985532
|
|
NM_001347721.2(DYRK1A):c.947G>A (p.Arg316His)
|
rs1064796923
|
|
NM_001347721.2(DYRK1A):c.964G>A (p.Glu322Lys)
|
|
|
NM_001347721.2(DYRK1A):c.986_993del (p.Tyr329fs)
|
rs886041778
|
|
NM_001347721.2(DYRK1A):c.987T>G (p.Tyr329Ter)
|
rs886041658
|
|