|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
|
NM_015378.4(VPS13D):c.6595A>G (p.Ser2199Gly)
|
rs545160328
|
0.00018
|
|
NM_001379286.1(ZNF423):c.1216C>T (p.Arg406Trp)
|
rs368847069
|
0.00013
|
|
NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln)
|
rs746518411
|
0.00011
|
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
|
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)
|
rs372894716
|
0.00007
|
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
|
NM_015378.4(VPS13D):c.9928G>C (p.Glu3310Gln)
|
rs756615407
|
0.00005
|
|
NM_001379286.1(ZNF423):c.848C>T (p.Thr283Met)
|
rs553506281
|
0.00004
|
|
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
|
rs201127191
|
0.00004
|
|
NM_006946.4(SPTBN2):c.5939C>A (p.Ala1980Glu)
|
rs750934185
|
0.00003
|
|
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)
|
rs769260277
|
0.00003
|
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro)
|
rs1220294928
|
0.00002
|
|
NM_001134831.2(AHI1):c.2560T>C (p.Cys854Arg)
|
rs1387769677
|
0.00002
|
|
NM_001379286.1(ZNF423):c.296C>T (p.Pro99Leu)
|
rs553868296
|
0.00002
|
|
NM_004715.5(CTDP1):c.440C>T (p.Thr147Met)
|
rs143464787
|
0.00002
|
|
NM_006946.4(SPTBN2):c.1844G>A (p.Arg615Gln)
|
rs768742849
|
0.00002
|
|
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)
|
rs758991387
|
0.00002
|
|
NM_001134831.2(AHI1):c.1933C>T (p.Arg645Cys)
|
rs1291908829
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser)
|
rs1835967725
|
0.00001
|
|
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)
|
rs1169623576
|
0.00001
|
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
|
NM_001080414.4(CCDC88C):c.3554A>C (p.Tyr1185Ser)
|
|
|
|
NM_001080414.4(CCDC88C):c.5440C>T (p.Arg1814Trp)
|
|
|
|
NM_001130698.2(TRPC3):c.2545C>A (p.Gln849Lys)
|
|
|
|
NM_001130823.3(DNMT1):c.3311C>T (p.Ala1104Val)
|
rs2089593597
|
|
|
NM_001163809.2(WDR81):c.1735G>A (p.Gly579Arg)
|
|
|
|
NM_001163809.2(WDR81):c.2410C>T (p.Arg804Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys)
|
rs548318176
|
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
|
NM_001378615.1(CC2D2A):c.667G>A (p.Glu223Lys)
|
|
|
|
NM_001378969.1(KCND3):c.917G>A (p.Gly306Asp)
|
rs2101995501
|
|
|
NM_001382391.1(CSPP1):c.385-2A>G
|
|
|
|
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter)
|
rs1725885571
|
|
|
NM_001961.4(EEF2):c.1480A>T (p.Met494Leu)
|
|
|
|
NM_001961.4(EEF2):c.884A>T (p.Asp295Val)
|
|
|
|
NM_002739.5(PRKCG):c.1451A>T (p.Asp484Val)
|
|
|
|
NM_003383.5(VLDLR):c.263G>A (p.Arg88Gln)
|
|
|
|
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter)
|
rs80338907
|
|
|
NM_004115.4(FGF14):c.193+3C>T
|
|
|
|
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)
|
rs797044872
|
|
|
NM_005861.4(STUB1):c.460C>T (p.Arg154Cys)
|
|
|
|
NM_005861.4(STUB1):c.553G>A (p.Glu185Lys)
|
|
|
|
NM_006946.4(SPTBN2):c.254T>C (p.Leu85Pro)
|
|
|
|
NM_006946.4(SPTBN2):c.3091G>A (p.Ala1031Thr)
|
|
|
|
NM_006946.4(SPTBN2):c.3475C>T (p.Arg1159Ter)
|
|
|
|
NM_006946.4(SPTBN2):c.3479T>C (p.Met1160Thr)
|
|
|
|
NM_006946.4(SPTBN2):c.571G>T (p.Ala191Ser)
|
|
|
|
NM_014053.4(FLVCR1):c.375G>A (p.Trp125Ter)
|
|
|
|
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)
|
rs786204628
|
|
|
NM_014363.6(SACS):c.2926_2927insAT (p.Arg976fs)
|
|
|
|
NM_014363.6(SACS):c.4268A>G (p.His1423Arg)
|
rs2137629036
|
|
|
NM_014363.6(SACS):c.7539_7540del (p.Cys2514fs)
|
rs1467848128
|
|
|
NM_014363.6(SACS):c.7583T>G (p.Leu2528Trp)
|
rs2137599038
|
|
|
NM_014363.6(SACS):c.8765_8766del (p.Tyr2922fs)
|
|
|
|
NM_015046.7(SETX):c.5243dup (p.Leu1750fs)
|
rs754706851
|
|
|
NM_015046.7(SETX):c.5276del (p.Val1759fs)
|
|
|
|
NM_015046.7(SETX):c.5505_5507dup (p.Tyr1836Ter)
|
|
|
|
NM_015046.7(SETX):c.6859C>T (p.Arg2287Ter)
|
rs1339011741
|
|
|
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)
|
rs1160553456
|
|
|
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)
|
|
|
|
NM_015215.4(CAMTA1):c.1999G>A (p.Glu667Lys)
|
|
|
|
NM_015215.4(CAMTA1):c.2981C>G (p.Thr994Arg)
|
|
|
|
NM_015378.4(VPS13D):c.5075G>A (p.Arg1692Gln)
|
|
|
|
NM_016464.5(TMEM138):c.63C>G (p.Asp21Glu)
|
|
|
|
NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro)
|
rs764092726
|
|
|
NM_016529.6(ATP8A2):c.780-1G>T
|
|
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
|
|
|
NM_018896.5(CACNA1G):c.1807A>G (p.Lys603Glu)
|
|
|
|
NM_018896.5(CACNA1G):c.3373A>G (p.Ser1125Gly)
|
|
|
|
NM_018896.5(CACNA1G):c.4657C>G (p.Arg1553Gly)
|
|
|
|
NM_018896.5(CACNA1G):c.6860C>T (p.Pro2287Leu)
|
|
|
|
NM_023077.3(COA7):c.97del (p.Asp33fs)
|
|
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
|
NM_025114.4(CEP290):c.2594T>C (p.Leu865Pro)
|
|
|
|
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del)
|
rs780211907
|
|
|
NM_032856.5(WDR73):c.1126G>A (p.Ala376Thr)
|
|
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
|
NM_032856.5(WDR73):c.647G>A (p.Ser216Asn)
|
|
|
|
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)
|
rs782175860
|
|
|
NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)
|
|
|
|
NM_152703.5(SAMD9L):c.683G>A (p.Cys228Tyr)
|
rs1433514195
|
|
|
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter)
|
rs1784370895
|
|
|
NM_173500.4(TTBK2):c.331G>A (p.Gly111Ser)
|
|
|
|
NM_182961.4(SYNE1):c.18157C>T (p.Arg6053Ter)
|
|
|
|
NM_198994.3(TGM6):c.1132dup (p.Arg378fs)
|
|
|
|
NM_198994.3(TGM6):c.1163G>A (p.Gly388Asp)
|
rs2122375873
|
|