NC_000021.7:g.37796500_37849000del
|
|
|
NC_000021.8:g.(?_38792657)_(38884854_?)del
|
|
|
NC_000021.8:g.(?_38844966)_(38845202_?)del
|
|
|
NC_000021.8:g.(?_38844966)_(38884854_?)del
|
|
|
NM_001347721.2(DYRK1A):c.1015G>A (p.Gly339Arg)
|
rs2053152079
|
|
NM_001347721.2(DYRK1A):c.1025del (p.Leu342fs)
|
rs1064794894
|
|
NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter)
|
rs1555985742
|
|
NM_001347721.2(DYRK1A):c.1071+1G>A
|
rs587776930
|
|
NM_001347721.2(DYRK1A):c.1074_1077del (p.Asp359fs)
|
rs797044522
|
|
NM_001347721.2(DYRK1A):c.1114_1133del (p.Pro372fs)
|
|
|
NM_001347721.2(DYRK1A):c.1132C>T (p.Gln378Ter)
|
rs1555987107
|
|
NM_001347721.2(DYRK1A):c.1135_1141del (p.Ala379fs)
|
|
|
NM_001347721.2(DYRK1A):c.1135dup (p.Ala379fs)
|
rs797045042
|
|
NM_001347721.2(DYRK1A):c.1158dup (p.Glu387Ter)
|
rs2148627691
|
|
NM_001347721.2(DYRK1A):c.1190_1193del (p.Lys397fs)
|
rs2148627802
|
|
NM_001347721.2(DYRK1A):c.1191_1192insTT (p.Lys398fs)
|
|
|
NM_001347721.2(DYRK1A):c.1213-2A>G
|
rs1601315812
|
|
NM_001347721.2(DYRK1A):c.1213-3C>G
|
|
|
NM_001347721.2(DYRK1A):c.1259_1260dup (p.Glu421fs)
|
|
|
NM_001347721.2(DYRK1A):c.1271_1272insT (p.Pro425fs)
|
rs797045539
|
|
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)
|
rs724159953
|
|
NM_001347721.2(DYRK1A):c.1289del (p.Ala430fs)
|
rs2053564046
|
|
NM_001347721.2(DYRK1A):c.1336del (p.Leu446fs)
|
|
|
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.1372C>T (p.Arg458Ter)
|
rs797044520
|
|
NM_001347721.2(DYRK1A):c.1378C>T (p.Gln460Ter)
|
rs1555990955
|
|
NM_001347721.2(DYRK1A):c.143_144del (p.Ile48fs)
|
rs587776929
|
|
NM_001347721.2(DYRK1A):c.1464del (p.Ala489fs)
|
rs1057519628
|
|
NM_001347721.2(DYRK1A):c.1476del (p.Gln492fs)
|
|
|
NM_001347721.2(DYRK1A):c.1526C>G (p.Ser509Ter)
|
|
|
NM_001347721.2(DYRK1A):c.1583del (p.His528fs)
|
rs1601319086
|
|
NM_001347721.2(DYRK1A):c.1587_1588dup (p.Gly530fs)
|
|
|
NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter)
|
rs869312708
|
|
NM_001347721.2(DYRK1A):c.1635_1636del (p.His545fs)
|
rs1601319352
|
|
NM_001347721.2(DYRK1A):c.1699C>T (p.Gln567Ter)
|
rs1555994573
|
|
NM_001347721.2(DYRK1A):c.1753C>T (p.Gln585Ter)
|
|
|
NM_001347721.2(DYRK1A):c.187C>T (p.Gln63Ter)
|
rs373178770
|
|
NM_001347721.2(DYRK1A):c.1943_1960delinsTC (p.Ser648fs)
|
|
|
NM_001347721.2(DYRK1A):c.197dup (p.Thr67fs)
|
|
|
NM_001347721.2(DYRK1A):c.2014del (p.Gln672fs)
|
|
|
NM_001347721.2(DYRK1A):c.201_204del (p.Asn68fs)
|
rs1569355102
|
|
NM_001347721.2(DYRK1A):c.205C>T (p.Gln69Ter)
|
rs1555977171
|
|
NM_001347721.2(DYRK1A):c.210dup (p.Arg71fs)
|
rs2148571400
|
|
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.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.293_294dup (p.Asn99fs)
|
rs2148571757
|
|
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.367G>T (p.Glu123Ter)
|
|
|
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs)
|
rs797044523
|
|
NM_001347721.2(DYRK1A):c.433_439del (p.Lys145fs)
|
rs2148582438
|
|
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs)
|
rs797044521
|
|
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter)
|
rs1057516030
|
|
NM_001347721.2(DYRK1A):c.450C>G (p.Tyr150Ter)
|
rs1049773
|
|
NM_001347721.2(DYRK1A):c.484G>A (p.Gly162Arg)
|
rs1555980467
|
|
NM_001347721.2(DYRK1A):c.489+2T>C
|
rs2052613493
|
|
NM_001347721.2(DYRK1A):c.490-3T>G
|
|
|
NM_001347721.2(DYRK1A):c.507dup (p.Arg170fs)
|
rs1569370887
|
|
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.586C>T (p.Arg196Ter)
|
rs724159949
|
|
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+2T>C
|
rs1569371303
|
|
NM_001347721.2(DYRK1A):c.637+2dup
|
rs2148601107
|
|
NM_001347721.2(DYRK1A):c.638-1G>A
|
rs2148612254
|
|
NM_001347721.2(DYRK1A):c.638-9_638-5del
|
|
|
NM_001347721.2(DYRK1A):c.640dup (p.His214fs)
|
|
|
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs)
|
rs1555984102
|
|
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.687del (p.Phe229fs)
|
rs2053036372
|
|
NM_001347721.2(DYRK1A):c.701dup (p.Tyr234Ter)
|
|
|
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.763A>T (p.Lys255Ter)
|
rs1555984237
|
|
NM_001347721.2(DYRK1A):c.772C>T (p.Gln258Ter)
|
rs1555984245
|
|
NM_001347721.2(DYRK1A):c.822dup (p.Ile275fs)
|
|
|
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg)
|
rs2148612918
|
|
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.840dup (p.Pro281fs)
|
rs2148612955
|
|
NM_001347721.2(DYRK1A):c.848dup (p.Asn283fs)
|
|
|
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.924+4_924+7del
|
rs1555984461
|
|
NM_001347721.2(DYRK1A):c.925-11A>G
|
rs2148619358
|
|
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.940C>T (p.Gln314Ter)
|
rs1555985532
|
|
NM_001347721.2(DYRK1A):c.980_981insCCCA (p.Met327fs)
|
rs2053150009
|
|
NM_001347721.2(DYRK1A):c.985dup (p.Tyr329fs)
|
|
|
NM_001347721.2(DYRK1A):c.986dup (p.Tyr329Ter)
|
|
|
NM_001347721.2(DYRK1A):c.987T>G (p.Tyr329Ter)
|
rs886041658
|
|