NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_001395891.1(CLASP1):c.196-605C>T
|
rs188343279
|
0.00038
|
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter)
|
rs202058504
|
0.00029
|
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)
|
rs185142838
|
0.00025
|
NM_001395891.1(CLASP1):c.196-591C>T
|
rs756026847
|
0.00013
|
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)
|
rs121913026
|
0.00009
|
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter)
|
rs587783211
|
0.00006
|
NM_018249.6(CDK5RAP2):c.4005-1G>A
|
rs587783387
|
0.00005
|
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter)
|
rs587783295
|
0.00004
|
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)
|
rs1026438103
|
0.00003
|
NM_001110792.2(MECP2):c.414-3C>T
|
rs267608465
|
0.00003
|
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs)
|
rs724159996
|
0.00003
|
NM_001353108.3(CEP63):c.1068-1G>A
|
rs752207334
|
0.00002
|
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu)
|
rs869320682
|
0.00001
|
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)
|
rs138358708
|
0.00001
|
NM_001184.4(ATR):c.3043C>T (p.Arg1015Ter)
|
rs1453839157
|
0.00001
|
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr)
|
rs869025189
|
0.00001
|
NM_181784.3(SPRED2):c.187C>T (p.Arg63Ter)
|
rs780902942
|
0.00001
|
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter)
|
rs367543039
|
|
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
|
|
|
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
|
|
|
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp)
|
rs190111194
|
|
NM_001083961.2(WDR62):c.1821dup (p.Arg608fs)
|
rs1213710245
|
|
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)
|
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001194998.2(CEP152):c.2920C>T (p.Gln974Ter)
|
|
|
NM_001194998.2(CEP152):c.5070_5073del (p.Ile1691fs)
|
|
|
NM_001197104.2(KMT2A):c.11110C>T (p.Arg3704Ter)
|
rs1555050211
|
|
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter)
|
rs1555039343
|
|
NM_001197104.2(KMT2A):c.4696+1G>A
|
rs1057519407
|
|
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter)
|
rs797044520
|
|
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)
|
rs724159949
|
|
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)
|
rs724159948
|
|
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs)
|
rs796052230
|
|
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter)
|
rs587783360
|
|
NM_001395891.1(CLASP1):c.196-604C>T
|
rs181195449
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly)
|
rs281875207
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_004523.4(KIF11):c.2300_2301del (p.Phe767fs)
|
rs730882121
|
|
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
|
|
|
NM_004523.4(KIF11):c.308+1G>A
|
|
|
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
|
|
|
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)
|
rs863225264
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005249.5(FOXG1):c.506del (p.Gly169fs)
|
rs1452295073
|
|
NM_005654.6(NR2F1):c.452T>A (p.Met151Lys)
|
|
|
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)
|
rs137853050
|
|
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys)
|
rs137853043
|
|
NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)
|
|
|
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)
|
rs672601334
|
|
NM_006912.6(RIT1):c.241G>C (p.Glu81Gln)
|
rs869025192
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile)
|
rs869025194
|
|
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)
|
rs869025194
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)
|
rs869025195
|
|
NM_006912.6(RIT1):c.265T>C (p.Tyr89His)
|
rs869025197
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
|
|
|
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
|
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
|
rs886041125
|
|
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)
|
rs797045027
|
|
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs)
|
rs878855327
|
|
NM_014727.3(KMT2B):c.3596dup (p.Met1202fs)
|
|
|
NM_014845.6(FIG4):c.831_838del (p.Lys278fs)
|
rs786200937
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs)
|
rs199422146
|
|
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)
|
rs145489194
|
|
NM_018136.5(ASPM):c.3741+1G>C
|
|
|
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs)
|
rs199422163
|
|
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter)
|
rs199422165
|
|
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter)
|
rs142865061
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
|
|
|
NM_018136.5(ASPM):c.8702del (p.His2901fs)
|
|
|
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
|
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn)
|
|
|
NM_173630.4(RTTN):c.2953A>G (p.Arg985Gly)
|
|
|
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
|
rs869312840
|
|
NM_178014.4(TUBB):c.1261G>A (p.Glu421Lys)
|
|
|