|
NM_052988.5(CDK10):c.870_871del (p.Trp291fs)
|
rs766960979
|
0.00011
|
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
|
NM_052988.5(CDK10):c.609-1G>A
|
rs767176610
|
0.00004
|
|
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)
|
rs267607038
|
0.00001
|
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
|
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter)
|
rs120074152
|
0.00001
|
|
NC_000001.10:g.(?_153753742)_(153791156_?)del
|
|
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
|
NM_001003694.2(BRPF1):c.904C>T (p.Gln302Ter)
|
rs1553695017
|
|
|
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs)
|
rs1556016224
|
|
|
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter)
|
rs132630297
|
|
|
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr)
|
rs132630300
|
|
|
NM_001032382.2(PQBP1):c.376_377del (p.Arg126fs)
|
|
|
|
NM_001039591.3(USP9X):c.1812_1815del (p.Gln605fs)
|
rs2147080697
|
|
|
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs)
|
rs1085307760
|
|
|
NM_001172509.2(SATB2):c.1153del (p.Val385fs)
|
rs2105822848
|
|
|
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)
|
rs1057518190
|
|
|
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
|
|
|
|
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)
|
rs1569315876
|
|
|
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)
|
rs1135401808
|
|
|
NM_001347721.2(DYRK1A):c.675_676del (p.Cys226fs)
|
rs1601267617
|
|
|
NM_001347721.2(DYRK1A):c.772C>T (p.Gln258Ter)
|
rs1555984245
|
|
|
NM_001349338.3(FOXP1):c.1394G>C (p.Arg465Thr)
|
rs1553668196
|
|
|
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter)
|
rs1556358991
|
|
|
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter)
|
rs2147340483
|
|
|
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter)
|
rs1165205177
|
|
|
NM_001371928.1(AHDC1):c.2365C>T (p.Arg789Ter)
|
rs1571235473
|
|
|
NM_001371928.1(AHDC1):c.944dup (p.Ala316fs)
|
rs1571242436
|
|
|
NM_001429.4(EP300):c.3166C>T (p.Gln1056Ter)
|
rs1601623271
|
|
|
NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val)
|
rs1586660389
|
|
|
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu)
|
rs878853263
|
|
|
NM_003620.4(PPM1D):c.1388_1389delinsA (p.Gly463fs)
|
rs2031555258
|
|
|
NM_004187.5(KDM5C):c.3749C>G (p.Ser1250Ter)
|
|
|
|
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)
|
rs1384496494
|
|
|
NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter)
|
rs199821421
|
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
|
NM_005654.6(NR2F1):c.292T>C (p.Tyr98His)
|
rs2149941592
|
|
|
NM_005654.6(NR2F1):c.968_969del (p.Lys323fs)
|
rs1580360308
|
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
|
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)
|
rs1602140936
|
|
|
NM_006950.3(SYN1):c.1001del (p.Asn334fs)
|
rs1603051674
|
|
|
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)
|
rs886039902
|
|
|
NM_013275.6(ANKRD11):c.3151_3152del (p.Glu1051fs)
|
|
|
|
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)
|
rs2034353033
|
|
|
NM_013275.6(ANKRD11):c.5494_5495del (p.Arg1832fs)
|
rs2151743944
|
|
|
NM_013275.6(ANKRD11):c.618del (p.His206fs)
|
rs1597477691
|
|
|
NM_013275.6(ANKRD11):c.6807_6808del (p.Ala2270fs)
|
rs1597435393
|
|
|
NM_013275.6(ANKRD11):c.744+1G>T
|
|
|
|
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)
|
rs2033536147
|
|
|
NM_013275.6(ANKRD11):c.7590T>A (p.Cys2530Ter)
|
|
|
|
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp)
|
rs1555523386
|
|
|
NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs)
|
rs1553213060
|
|
|
NM_015100.4(POGZ):c.3121C>T (p.Gln1041Ter)
|
rs1557865787
|
|
|
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)
|
rs869320764
|
|
|
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu)
|
rs886039599
|
|
|
NM_015338.6(ASXL1):c.2461dup (p.Asp821fs)
|
|
|
|
NM_015338.6(ASXL1):c.4254_4260delinsCTCAC (p.Lys1419fs)
|
|
|
|
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)
|
rs1562957809
|
|
|
NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter)
|
rs1585645641
|
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
|
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)
|
rs1557036768
|
|
|
NM_152564.5(VPS13B):c.3881_3882del (p.Ile1294fs)
|
rs2133609624
|
|
|
NM_152564.5(VPS13B):c.763-2118G>T
|
|
|
|
NM_152564.5(VPS13B):c.8206_8207dup (p.Phe2737fs)
|
|
|