NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter)
|
rs774592932
|
0.00001
|
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter)
|
rs1454466097
|
0.00001
|
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
|
|
|
GRCh37/hg19 13q34(chr13:114893728-115093115)x1
|
|
|
GRCh37/hg19 21q22.13(chr21:38744158-38830251)x1
|
|
|
GRCh37/hg19 2q24.3(chr2:166060478-166349787)x1
|
|
|
GRCh37/hg19 3p24.1-23(chr3:30863773-31433693)x1
|
|
|
GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1
|
|
|
GRCh37/hg19 9q34.11(chr9:130431762-130432190)x1
|
|
|
GRCh37/hg19 Xp22.11(chrX:23395622-23463363)x0
|
|
|
NCBI36/hg18 21q22.13-22.2(chr21:37662974-39195976)x1
|
|
|
NCBI36/hg18 21q22.13-22.2(chr21:37662974-39236719)x1
|
|
|
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser)
|
rs886041295
|
|
NM_000834.5(GRIN2B):c.1576T>C (p.Ser526Pro)
|
rs1131691702
|
|
NM_000834.5(GRIN2B):c.1823T>A (p.Leu608Ter)
|
rs886043237
|
|
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr)
|
rs876661055
|
|
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu)
|
rs797044849
|
|
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)
|
rs797044849
|
|
NM_000834.5(GRIN2B):c.2461G>T (p.Val821Phe)
|
rs1948651947
|
|
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter)
|
rs879253931
|
|
NM_000834.5(GRIN2B):c.706G>T (p.Glu236Ter)
|
rs1555133077
|
|
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr)
|
rs796053365
|
|
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)
|
rs796053366
|
|
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)
|
rs121918321
|
|
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)
|
rs796053367
|
|
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro)
|
rs886041668
|
|
NM_001032221.6(STXBP1):c.1381_1390dup (p.Arg464fs)
|
rs1554778657
|
|
NM_001032221.6(STXBP1):c.1569_1570del (p.His523fs)
|
rs1554778928
|
|
NM_001032221.6(STXBP1):c.1574del (p.Asn525fs)
|
rs1842039949
|
|
NM_001032221.6(STXBP1):c.1597del (p.Ser533fs)
|
rs1554778930
|
|
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)
|
rs796053373
|
|
NM_001032221.6(STXBP1):c.170-2A>G
|
rs1554776674
|
|
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)
|
|
|
NM_001032221.6(STXBP1):c.298del (p.Arg100fs)
|
rs1554776842
|
|
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)
|
rs794727792
|
|
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
|
|
|
NM_001032221.6(STXBP1):c.663+1G>C
|
rs1841240415
|
|
NM_001032221.6(STXBP1):c.685C>T (p.Gln229Ter)
|
rs1554777470
|
|
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)
|
rs796053359
|
|
NM_001032221.6(STXBP1):c.794+5G>A
|
rs1057520631
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)
|
rs796053361
|
|
NM_001032221.6(STXBP1):c.875G>C (p.Arg292Pro)
|
rs796053361
|
|
NM_001032221.6(STXBP1):c.902+1G>C
|
rs886041978
|
|
NM_001032221.6(STXBP1):c.989dup (p.Met330fs)
|
rs1841564743
|
|
NM_001040142.2(SCN2A):c.1027G>C (p.Asp343His)
|
rs796053175
|
|
NM_001040142.2(SCN2A):c.1289A>C (p.Glu430Ala)
|
rs796053183
|
|
NM_001040142.2(SCN2A):c.1456_1457del (p.Ser486fs)
|
rs1697695664
|
|
NM_001040142.2(SCN2A):c.167T>A (p.Leu56Ter)
|
rs1553564213
|
|
NM_001040142.2(SCN2A):c.2388+1G>A
|
rs1698674881
|
|
NM_001040142.2(SCN2A):c.252C>A (p.Tyr84Ter)
|
rs143065769
|
|
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)
|
rs794727152
|
|
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln)
|
rs797045942
|
|
NM_001040142.2(SCN2A):c.2622_2631del (p.Ile874fs)
|
rs1064793850
|
|
NM_001040142.2(SCN2A):c.2635G>A (p.Gly879Arg)
|
rs796053115
|
|
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser)
|
rs1574641522
|
|
NM_001040142.2(SCN2A):c.2645G>A (p.Gly882Glu)
|
rs1553579305
|
|
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys)
|
rs796053197
|
|
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter)
|
rs746163041
|
|
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)
|
rs796053126
|
|
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter)
|
rs387906683
|
|
NM_001040142.2(SCN2A):c.3107_3108delinsG (p.Leu1036fs)
|
rs1700077715
|
|
NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs)
|
rs587780450
|
|
NM_001040142.2(SCN2A):c.3391del (p.Ser1131fs)
|
rs1064796203
|
|
NM_001040142.2(SCN2A):c.3464_3468del (p.Glu1155fs)
|
rs1574691534
|
|
NM_001040142.2(SCN2A):c.386+2T>C
|
rs1553564400
|
|
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
|
|
|
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu)
|
rs121917753
|
|
NM_001040142.2(SCN2A):c.4308+1G>A
|
rs886039648
|
|
NM_001040142.2(SCN2A):c.4308+2T>C
|
rs1553461672
|
|
NM_001040142.2(SCN2A):c.4406_4409delinsATGT (p.Ile1469_Gly1470delinsAsnVal)
|
rs1701554261
|
|
NM_001040142.2(SCN2A):c.4494del (p.Tyr1497_Tyr1498insTer)
|
rs1553462224
|
|
NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter)
|
rs1553463032
|
|
NM_001040142.2(SCN2A):c.4726G>A (p.Gly1576Arg)
|
rs869312664
|
|
NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs)
|
rs1553463096
|
|
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
|
|
|
NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg)
|
rs1064794005
|
|
NM_001040142.2(SCN2A):c.5318C>A (p.Ala1773Glu)
|
rs1553463602
|
|
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val)
|
rs1553463602
|
|
NM_001040142.2(SCN2A):c.5623C>T (p.Leu1875Phe)
|
rs1553463764
|
|
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)
|
rs794727444
|
|
NM_001040142.2(SCN2A):c.605+1G>A
|
|
|
NM_001040142.2(SCN2A):c.605+1G>T
|
rs796053171
|
|
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter)
|
rs181327458
|
|
NM_001170629.2(CHD8):c.2345del (p.His782fs)
|
rs886039692
|
|
NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter)
|
rs1131691548
|
|
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs)
|
rs774152851
|
|
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln)
|
rs1567149946
|
|
NM_001271.4(CHD2):c.2963C>G (p.Ser988Ter)
|
rs2053970405
|
|
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs)
|
rs749969667
|
|
NM_001282531.3(ADNP):c.1033C>T (p.Gln345Ter)
|
rs1981068436
|
|
NM_001282531.3(ADNP):c.190dup (p.Thr64fs)
|
rs886041741
|
|
NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter)
|
rs587777526
|
|
NM_001282531.3(ADNP):c.2213C>A (p.Ser738Ter)
|
rs779340209
|
|
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)
|
rs587777523
|
|
NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs)
|
rs1980777288
|
|
NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter)
|
rs1981147033
|
|
NM_001282531.3(ADNP):c.819del (p.Lys274fs)
|
rs886041498
|
|
NM_001282531.3(ADNP):c.940_941del (p.Leu314fs)
|
rs1981083173
|
|
NM_001347721.2(DYRK1A):c.1008G>A (p.Trp336Ter)
|
rs1555985642
|
|
NM_001347721.2(DYRK1A):c.1221del (p.Lys407fs)
|
rs1064794006
|
|
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)
|
rs724159953
|
|
NM_001347721.2(DYRK1A):c.1373dup (p.Ile459fs)
|
rs1555990946
|
|
NM_001347721.2(DYRK1A):c.1626C>A (p.Cys542Ter)
|
rs376106351
|
|
NM_001347721.2(DYRK1A):c.220dup (p.Gln74fs)
|
rs1555979106
|
|
NM_001347721.2(DYRK1A):c.301-2A>G
|
rs2052604858
|
|
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter)
|
rs1057518204
|
|
NM_001347721.2(DYRK1A):c.424_439del (p.Asn142fs)
|
rs2052610181
|
|
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs)
|
rs797044521
|
|
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)
|
rs1064796367
|
|
NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter)
|
rs746177928
|
|
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.678_680delinsAC (p.Cys226_Leu227delinsTer)
|
rs1131691946
|
|
NM_001349338.3(FOXP1):c.1393A>G (p.Arg465Gly)
|
rs869025202
|
|
NM_001349338.3(FOXP1):c.1420_1427del (p.Ile474fs)
|
rs2037850257
|
|
NM_001349338.3(FOXP1):c.1489C>T (p.Arg497Ter)
|
rs775136381
|
|
NM_001349338.3(FOXP1):c.1630C>T (p.Arg544Ter)
|
|
|
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)
|
rs886039332
|
|
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter)
|
rs1064796453
|
|
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs)
|
rs1553632361
|
|
NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter)
|
rs886041553
|
|
NM_001904.4(CTNNB1):c.211dup (p.Ser71fs)
|
rs1575315766
|
|
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys)
|
rs863225080
|
|
NM_006245.4(PPP2R5D):c.253C>T (p.Arg85Ter)
|
rs1762094766
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg)
|
rs869320691
|
|
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)
|
rs1762136390
|
|
NM_006245.4(PPP2R5D):c.758G>C (p.Arg253Pro)
|
rs1131691266
|
|
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)
|
rs869312841
|
|
NM_006734.4(HIVEP2):c.2905C>T (p.Gln969Ter)
|
rs869312842
|
|
NM_006734.4(HIVEP2):c.3742C>T (p.Gln1248Ter)
|
rs1562505335
|
|
NM_006734.4(HIVEP2):c.5686C>T (p.Gln1896Ter)
|
rs1775204653
|
|
NM_006734.4(HIVEP2):c.5900del (p.Ser1967fs)
|
rs1064796034
|
|
NM_006734.4(HIVEP2):c.6667C>T (p.Arg2223Ter)
|
rs1562493608
|
|
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)
|
rs397514670
|
|
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter)
|
rs1060503386
|
|
NM_006772.3(SYNGAP1):c.2294+1G>T
|
rs1554121970
|
|
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter)
|
rs749188610
|
|
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs)
|
rs1131691979
|
|
NM_006772.3(SYNGAP1):c.3408+1G>T
|
rs1554122402
|
|
NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter)
|
rs1554122455
|
|
NM_006772.3(SYNGAP1):c.3583-9G>A
|
rs1554122689
|
|
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter)
|
rs869312955
|
|
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter)
|
rs397514741
|
|
NM_006772.3(SYNGAP1):c.435_447dup (p.Leu150fs)
|
rs1777196665
|
|
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)
|
rs1057518352
|
|
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)
|
rs797045027
|
|
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)
|
rs886039902
|
|
NM_013275.6(ANKRD11):c.2536del (p.Ser846fs)
|
rs1597460246
|
|
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter)
|
rs763407068
|
|
NM_013275.6(ANKRD11):c.7569+1G>A
|
rs797044890
|
|
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter)
|
rs1555247936
|
|
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs)
|
rs1555247853
|
|
NM_015335.5(MED13L):c.1A>G (p.Met1Val)
|
rs1131691818
|
|
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu)
|
rs1555246145
|
|
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs)
|
rs1064796611
|
|
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter)
|
rs1555245108
|
|
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter)
|
rs1592919048
|
|
NM_015335.5(MED13L):c.4083del (p.Gln1361fs)
|
rs1877748039
|
|
NM_015335.5(MED13L):c.4120del (p.Glu1374fs)
|
rs1877698147
|
|
NM_015335.5(MED13L):c.4403dup (p.Thr1470fs)
|
rs1131691764
|
|
NM_015335.5(MED13L):c.4716del (p.Pro1573fs)
|
rs1064796113
|
|
NM_015335.5(MED13L):c.5444del (p.Thr1815fs)
|
rs879255407
|
|
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter)
|
rs1876853109
|
|
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs)
|
rs1876629983
|
|
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)
|
rs1876520009
|
|
NM_015335.5(MED13L):c.6226-1G>C
|
rs1876150289
|
|
NM_015559.3(SETBP1):c.1408del (p.Lys469_Met470insTer)
|
rs1555706391
|
|
NM_015559.3(SETBP1):c.1568del (p.His523fs)
|
rs886041469
|
|
NM_015559.3(SETBP1):c.1821del (p.Ser608fs)
|
rs797045952
|
|
NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter)
|
rs606231272
|
|
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)
|
rs606231273
|
|
NM_015559.3(SETBP1):c.2621A>G (p.Asp874Gly)
|
rs2071364489
|
|
NM_015559.3(SETBP1):c.821G>A (p.Trp274Ter)
|
rs1555705966
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_030632.3(ASXL3):c.1189C>T (p.Gln397Ter)
|
rs1282045990
|
|
NM_030632.3(ASXL3):c.1192_1195del (p.Thr398fs)
|
rs797045317
|
|
NM_030632.3(ASXL3):c.1207C>T (p.Gln403Ter)
|
rs2067589435
|
|
NM_030632.3(ASXL3):c.1354del (p.Glu452fs)
|
rs1555742087
|
|
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter)
|
rs1060499602
|
|
NM_030632.3(ASXL3):c.1479_1480del (p.Pro494fs)
|
rs2067597244
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NM_030632.3(ASXL3):c.1535T>A (p.Leu512Ter)
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rs1568359816
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NM_030632.3(ASXL3):c.1738G>T (p.Glu580Ter)
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rs1555742333
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NM_030632.3(ASXL3):c.1821del (p.Ala606_Cys607insTer)
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rs2067607599
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NM_030632.3(ASXL3):c.1939dup (p.Thr647fs)
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rs886041753
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NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs)
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rs1555742500
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NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)
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|
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NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs)
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rs2067694467
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NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter)
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rs868044680
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NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter)
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rs377619533
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NM_030632.3(ASXL3):c.3621dup (p.Pro1208fs)
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rs2067703753
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NM_030632.3(ASXL3):c.3964C>T (p.Gln1322Ter)
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rs1555743954
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NM_030632.3(ASXL3):c.4087_4088delinsG (p.Met1363fs)
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rs1599572831
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NM_030632.3(ASXL3):c.4164dup (p.Thr1389fs)
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rs2067717913
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NM_030632.3(ASXL3):c.4211_4212del (p.Thr1404fs)
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rs1555744175
|
|
NM_030632.3(ASXL3):c.4219_4220del (p.Leu1407fs)
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rs1555744178
|
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NM_030632.3(ASXL3):c.4322C>G (p.Ser1441Ter)
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rs2067723272
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NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter)
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rs1204482456
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NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs)
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rs1599574018
|
|
NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs)
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rs1555744396
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NM_030632.3(ASXL3):c.4904dup (p.Gln1636fs)
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rs2067741671
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NM_032436.4(CHAMP1):c.1002G>A (p.Trp334Ter)
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rs879255261
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NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter)
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rs782397980
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NM_032436.4(CHAMP1):c.1544G>A (p.Trp515Ter)
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rs863225075
|
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NM_032436.4(CHAMP1):c.1657G>T (p.Glu553Ter)
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rs782465797
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NM_032436.4(CHAMP1):c.1680_1683dup (p.Glu562delinsProTer)
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rs1594131663
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NM_032436.4(CHAMP1):c.1850dup (p.Lys618fs)
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rs886041988
|
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NM_032436.4(CHAMP1):c.1969C>T (p.Gln657Ter)
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rs863225074
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NM_032436.4(CHAMP1):c.2127T>G (p.Tyr709Ter)
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rs1555379968
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NM_032436.4(CHAMP1):c.542_543del (p.Ser181fs)
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rs863225077
|
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NM_032436.4(CHAMP1):c.661dup (p.Thr221fs)
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rs1594129609
|
|
NM_032436.4(CHAMP1):c.730delinsGC (p.Ser244fs)
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rs1555379525
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NM_177559.3(CSNK2A1):c.139C>G (p.Arg47Gly)
|
rs886041956
|
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NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln)
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rs869312845
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NM_177559.3(CSNK2A1):c.149A>C (p.Tyr50Ser)
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rs869312849
|
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NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
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rs869312840
|
|
NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp)
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rs2018124491
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NM_177559.3(CSNK2A1):c.96del (p.Glu32fs)
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rs1600392059
|
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