NM_020066.5(FMN2):c.2886A>G (p.Ala962=)
|
rs199866405
|
0.00564
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)
|
rs34226296
|
0.00268
|
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val)
|
rs144334723
|
0.00245
|
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)
|
rs61736002
|
0.00229
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg)
|
rs148328539
|
0.00207
|
NM_003801.4(GPAA1):c.1622+3A>G
|
rs146686863
|
0.00196
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00172
|
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala)
|
rs150148567
|
0.00169
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)
|
rs140630401
|
0.00145
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463
|
0.00134
|
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr)
|
rs76792613
|
0.00133
|
NM_000553.6(WRN):c.2937T>G (p.Ile979Met)
|
rs147802438
|
0.00131
|
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)
|
rs201369510
|
0.00131
|
NM_005876.5(SPEG):c.2572C>T (p.Arg858Cys)
|
rs199582765
|
0.00124
|
NM_005876.5(SPEG):c.4400G>A (p.Arg1467Gln)
|
rs181222936
|
0.00113
|
NM_002796.3(PSMB4):c.-9G>A
|
rs200946642
|
0.00112
|
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly)
|
rs150327858
|
0.00109
|
NM_001242882.2(NAXD):c.521C>T (p.Pro174Leu)
|
rs137876156
|
0.00106
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)
|
rs147149459
|
0.00105
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)
|
rs114160429
|
0.00101
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00099
|
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)
|
rs80356576
|
0.00096
|
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)
|
rs78215018
|
0.00093
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_001292063.2(OTOG):c.7693+1G>A
|
rs548496846
|
0.00091
|
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn)
|
rs189910531
|
0.00084
|
NM_004153.4(ORC1):c.2162G>A (p.Arg721Gln)
|
rs142127656
|
0.00084
|
NM_012188.5(FOXI1):c.1018C>G (p.Pro340Ala)
|
rs141924917
|
0.00082
|
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
0.00081
|
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)
|
rs144139747
|
0.00081
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr)
|
rs145662304
|
0.00080
|
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
|
rs114368325
|
0.00079
|
NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln)
|
rs149859034
|
0.00079
|
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu)
|
rs139460397
|
0.00077
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
NM_002454.3(MTRR):c.446C>T (p.Ala149Val)
|
rs142714881
|
0.00077
|
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu)
|
rs553561553
|
0.00077
|
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp)
|
rs61734125
|
0.00076
|
NM_025074.7(FRAS1):c.886G>A (p.Glu296Lys)
|
rs186811333
|
0.00074
|
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)
|
rs144777709
|
0.00073
|
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)
|
rs73265454
|
0.00073
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00072
|
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=)
|
rs148105529
|
0.00072
|
NM_001042545.2(LTBP4):c.1324C>T (p.Arg442Cys)
|
rs199875504
|
0.00071
|
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys)
|
rs55853041
|
0.00071
|
NM_000277.3(PAH):c.30C>G (p.Gly10=)
|
rs1801145
|
0.00069
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_018249.6(CDK5RAP2):c.4730C>T (p.Ala1577Val)
|
rs143946953
|
0.00069
|
NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys)
|
rs201039834
|
0.00067
|
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro)
|
rs562249191
|
0.00066
|
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His)
|
rs201884654
|
0.00064
|
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp)
|
rs55916864
|
0.00063
|
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met)
|
rs201177183
|
0.00062
|
NM_001134831.2(AHI1):c.1533T>G (p.Val511=)
|
rs373669500
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00056
|
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu)
|
rs139690983
|
0.00054
|
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met)
|
rs142285781
|
0.00053
|
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
|
rs373811074
|
0.00052
|
NM_001379286.1(ZNF423):c.2876C>T (p.Thr959Met)
|
rs200057861
|
0.00052
|
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn)
|
rs201415651
|
0.00051
|
NM_000231.3(SGCG):c.*53C>A
|
rs188804783
|
0.00050
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_001040167.2(LFNG):c.482-3C>T
|
rs199745512
|
0.00047
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp)
|
rs112209600
|
0.00046
|
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp)
|
rs141441030
|
0.00045
|
NM_001983.4(ERCC1):c.191C>T (p.Ala64Val)
|
rs142631483
|
0.00045
|
NM_014780.5(CUL7):c.4074A>T (p.Glu1358Asp)
|
rs146346558
|
0.00044
|
NM_001218.5(CA12):c.908-1G>A
|
rs148438059
|
0.00043
|
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe)
|
rs143884041
|
0.00043
|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
0.00041
|
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)
|
rs200201741
|
0.00041
|
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu)
|
rs149678769
|
0.00041
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe)
|
rs138880406
|
0.00039
|
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe)
|
rs146415045
|
0.00039
|
NM_017825.3(ADPRS):c.491A>G (p.Tyr164Cys)
|
rs139736291
|
0.00039
|
NM_021942.6(TRAPPC11):c.2145A>C (p.Glu715Asp)
|
rs139034513
|
0.00039
|
NM_001161403.3(LIMS2):c.882C>A (p.Asn294Lys)
|
rs149101001
|
0.00038
|
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln)
|
rs200559738
|
0.00037
|
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys)
|
rs200040003
|
0.00037
|
NM_015650.4(TRAF3IP1):c.685G>A (p.Glu229Lys)
|
rs114489653
|
0.00037
|
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg)
|
rs41313952
|
0.00037
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp)
|
rs529894952
|
0.00036
|
NM_001543.5(NDST1):c.334C>T (p.Arg112Cys)
|
rs138962514
|
0.00036
|
NM_139343.3(BIN1):c.715G>A (p.Val239Ile)
|
rs146573197
|
0.00036
|
NM_000277.3(PAH):c.299A>G (p.His100Arg)
|
rs148393887
|
0.00035
|
NM_006019.4(TCIRG1):c.1096C>T (p.Arg366Cys)
|
rs148619884
|
0.00035
|
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup)
|
rs781468690
|
0.00035
|
NM_000271.5(NPC1):c.1937G>A (p.Arg646His)
|
rs112387560
|
0.00034
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)
|
rs143820618
|
0.00034
|
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)
|
rs17847577
|
0.00033
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_000231.3(SGCG):c.8G>A (p.Arg3His)
|
rs35105771
|
0.00031
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
NM_001161403.3(LIMS2):c.752A>G (p.Gln251Arg)
|
rs146422285
|
0.00031
|
NM_000782.5(CYP24A1):c.1369G>A (p.Val457Ile)
|
rs112596218
|
0.00030
|
NM_000232.5(SGCB):c.151C>T (p.Arg51Cys)
|
rs144743676
|
0.00029
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_001199563.2(BVES):c.910G>A (p.Asp304Asn)
|
rs147469762
|
0.00029
|
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala)
|
rs755031266
|
0.00029
|
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
|
rs61755260
|
0.00029
|
NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met)
|
rs200428790
|
0.00029
|
NM_000232.5(SGCB):c.496A>G (p.Ile166Val)
|
rs138877636
|
0.00028
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_020964.3(EPG5):c.2189T>C (p.Val730Ala)
|
rs549760994
|
0.00028
|
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys)
|
rs148404730
|
0.00027
|
NM_005876.5(SPEG):c.4861C>T (p.Arg1621Cys)
|
rs55646900
|
0.00027
|
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)
|
rs540292629
|
0.00026
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
NM_021942.6(TRAPPC11):c.1901A>G (p.Asn634Ser)
|
rs148567547
|
0.00026
|
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=)
|
rs201868142
|
0.00026
|
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)
|
rs116214830
|
0.00025
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser)
|
rs149626892
|
0.00025
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00024
|
NM_000360.4(TH):c.1334+3G>C
|
rs371566928
|
0.00024
|
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr)
|
rs181892289
|
0.00024
|
NM_001161403.3(LIMS2):c.971C>T (p.Ser324Leu)
|
rs377574169
|
0.00024
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)
|
rs752492870
|
0.00023
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)
|
rs147875659
|
0.00022
|
NM_005797.4(MPZL2):c.544C>T (p.Arg182Ter)
|
rs200462584
|
0.00022
|
NM_017433.5(MYO3A):c.1463G>A (p.Gly488Glu)
|
rs145970949
|
0.00022
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)
|
rs149342980
|
0.00021
|
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn)
|
rs370059449
|
0.00021
|
NM_001161403.3(LIMS2):c.605G>A (p.Arg202His)
|
rs148420126
|
0.00021
|
NM_001242882.2(NAXD):c.671C>T (p.Thr224Met)
|
rs149297756
|
0.00021
|
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe)
|
rs568197988
|
0.00021
|
NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His)
|
rs142885301
|
0.00021
|
NM_021942.6(TRAPPC11):c.3400T>C (p.Ter1134Arg)
|
rs142222368
|
0.00021
|
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg)
|
rs557276019
|
0.00021
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_001129.5(AEBP1):c.2183C>T (p.Pro728Leu)
|
rs562206142
|
0.00020
|
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln)
|
rs200269431
|
0.00020
|
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter)
|
rs138593211
|
0.00020
|
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu)
|
rs139838478
|
0.00020
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000553.6(WRN):c.835C>T (p.Arg279Trp)
|
rs199923241
|
0.00019
|
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter)
|
rs142746163
|
0.00019
|
NM_001379286.1(ZNF423):c.1325C>T (p.Ala442Val)
|
rs142517429
|
0.00019
|
NM_005876.5(SPEG):c.52C>T (p.Pro18Ser)
|
rs544959269
|
0.00019
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
0.00019
|
NM_006895.3(HNMT):c.325G>A (p.Glu109Lys)
|
rs528223406
|
0.00019
|
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)
|
rs141458677
|
0.00019
|
NM_018136.5(ASPM):c.1949C>G (p.Ser650Cys)
|
rs112997359
|
0.00019
|
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=)
|
rs376297358
|
0.00019
|
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)
|
rs397515338
|
0.00019
|
NM_021942.6(TRAPPC11):c.2419G>A (p.Val807Met)
|
rs139113789
|
0.00019
|
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr)
|
rs145094101
|
0.00019
|
NM_001161403.3(LIMS2):c.619G>A (p.Gly207Ser)
|
rs141505120
|
0.00018
|
NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met)
|
rs748497956
|
0.00018
|
NM_022464.5(SIL1):c.310C>G (p.Leu104Val)
|
rs150892227
|
0.00018
|
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys)
|
rs200986136
|
0.00018
|
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)
|
rs144948296
|
0.00018
|
NM_000023.4(SGCA):c.172G>C (p.Val58Leu)
|
rs141953249
|
0.00017
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00017
|
NM_001384474.1(LOXHD1):c.2036C>T (p.Ala679Val)
|
rs370779024
|
0.00017
|
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)
|
rs145252144
|
0.00016
|
NM_000231.3(SGCG):c.196-3C>T
|
rs765273430
|
0.00016
|
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln)
|
rs200191311
|
0.00016
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_001199563.2(BVES):c.574A>G (p.Asn192Asp)
|
rs145098126
|
0.00016
|
NM_001367624.2(ZNF469):c.9941A>G (p.Asp3314Gly)
|
rs757791330
|
0.00016
|
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)
|
rs143141689
|
0.00016
|
NM_004525.3(LRP2):c.5959G>A (p.Asp1987Asn)
|
rs77017461
|
0.00016
|
NM_004700.4(KCNQ4):c.1232G>A (p.Arg411His)
|
rs373727071
|
0.00016
|
NM_005876.5(SPEG):c.206C>T (p.Thr69Met)
|
rs768017689
|
0.00016
|
NM_014321.4(ORC6):c.449+5G>A
|
rs572314014
|
0.00016
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
NM_017721.5(CC2D1A):c.997G>A (p.Ala333Thr)
|
rs201374643
|
0.00016
|
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu)
|
rs201827208
|
0.00016
|
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr)
|
rs200887814
|
0.00016
|
NM_144508.5(KNL1):c.1817A>G (p.Lys606Arg)
|
rs371943910
|
0.00016
|
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)
|
rs372102223
|
0.00016
|
NM_001378609.3(OTOGL):c.5350G>A (p.Val1784Met)
|
rs571909899
|
0.00015
|
NM_005876.5(SPEG):c.8110C>T (p.Arg2704Trp)
|
rs370009561
|
0.00015
|
NM_012208.4(HARS2):c.1254G>C (p.Gln418His)
|
rs138090816
|
0.00015
|
NM_016239.4(MYO15A):c.484C>T (p.Arg162Cys)
|
rs546203218
|
0.00015
|
NM_017433.5(MYO3A):c.3398+3A>G
|
rs373758358
|
0.00015
|
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)
|
rs137852994
|
0.00015
|
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)
|
rs199900211
|
0.00015
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu)
|
rs143110015
|
0.00014
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter)
|
rs121913015
|
0.00014
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys)
|
rs199521775
|
0.00014
|
NM_018136.5(ASPM):c.9294+2T>C
|
rs199503603
|
0.00014
|
NM_021942.6(TRAPPC11):c.3086C>T (p.Ser1029Leu)
|
rs201494083
|
0.00014
|
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys)
|
rs193229946
|
0.00014
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln)
|
rs201439705
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001134831.2(AHI1):c.2962-3T>C
|
rs369713977
|
0.00013
|
NM_001161403.3(LIMS2):c.278A>G (p.Asn93Ser)
|
rs373800371
|
0.00013
|
NM_001161403.3(LIMS2):c.445G>A (p.Glu149Lys)
|
rs148943578
|
0.00013
|
NM_004407.4(DMP1):c.135+1G>T
|
rs141480996
|
0.00013
|
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg)
|
rs200114716
|
0.00013
|
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys)
|
rs148300854
|
0.00013
|
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)
|
rs192769565
|
0.00013
|
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)
|
rs111033330
|
0.00013
|
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly)
|
rs149668719
|
0.00013
|
NM_001367624.2(ZNF469):c.11038T>A (p.Ser3680Thr)
|
rs746733236
|
0.00012
|
NM_003801.4(GPAA1):c.541G>A (p.Val181Ile)
|
rs199578024
|
0.00012
|
NM_017872.5(THG1L):c.164T>C (p.Val55Ala)
|
rs201920319
|
0.00012
|
NM_024596.5(MCPH1):c.1189G>A (p.Val397Met)
|
rs539491399
|
0.00012
|
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)
|
rs202045534
|
0.00011
|
NM_000232.5(SGCB):c.188A>G (p.Asn63Ser)
|
rs377071680
|
0.00011
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)
|
rs62644499
|
0.00011
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_001080510.5(METTL23):c.20C>T (p.Ala7Val)
|
rs201999820
|
0.00011
|
NM_001256317.3(TMPRSS3):c.1126G>A (p.Gly376Ser)
|
rs371448615
|
0.00011
|
NM_001379286.1(ZNF423):c.1193C>T (p.Pro398Leu)
|
rs112570445
|
0.00011
|
NM_015602.4(TOR1AIP1):c.1140A>C (p.Gln380His)
|
rs139364730
|
0.00011
|
NM_018136.5(ASPM):c.10096G>A (p.Gly3366Arg)
|
rs201679731
|
0.00011
|
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp)
|
rs144969324
|
0.00011
|
NM_022464.5(SIL1):c.103C>G (p.Leu35Val)
|
rs759591537
|
0.00011
|
NM_024596.5(MCPH1):c.2210C>G (p.Ala737Gly)
|
rs759545352
|
0.00011
|
NM_030928.4(CDT1):c.748C>T (p.Arg250Cys)
|
rs199723040
|
0.00011
|
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)
|
rs76260483
|
0.00011
|
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys)
|
rs374565677
|
0.00011
|
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)
|
rs753816946
|
0.00010
|
NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn)
|
rs146924667
|
0.00010
|
NM_000023.4(SGCA):c.320C>T (p.Ala107Val)
|
rs186669379
|
0.00010
|
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly)
|
rs759292620
|
0.00010
|
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)
|
rs543206298
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000553.6(WRN):c.514A>C (p.Thr172Pro)
|
rs367991517
|
0.00010
|
NM_001161403.3(LIMS2):c.533G>A (p.Arg178His)
|
rs144584729
|
0.00010
|
NM_001199563.2(BVES):c.836A>G (p.His279Arg)
|
rs767206976
|
0.00010
|
NM_022095.4(ZNF335):c.1441C>G (p.Arg481Gly)
|
rs141481390
|
0.00010
|
NM_022464.5(SIL1):c.724G>A (p.Val242Met)
|
rs545999438
|
0.00010
|
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala)
|
rs376487875
|
0.00010
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
NM_000023.4(SGCA):c.1051C>T (p.Arg351Cys)
|
rs143365858
|
0.00009
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys)
|
rs148041867
|
0.00009
|
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)
|
rs776289036
|
0.00009
|
NM_000232.5(SGCB):c.97A>G (p.Asn33Asp)
|
rs753684563
|
0.00009
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)
|
rs76687508
|
0.00009
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
|
rs118203957
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001083961.2(WDR62):c.1043+3A>G
|
rs587784541
|
0.00009
|
NM_001161403.3(LIMS2):c.635C>T (p.Ala212Val)
|
rs138275119
|
0.00009
|
NM_001378609.3(OTOGL):c.236-2A>G
|
rs766564988
|
0.00009
|
NM_003801.4(GPAA1):c.1598C>T (p.Ala533Val)
|
rs200059746
|
0.00009
|
NM_006618.5(KDM5B):c.2474+1G>A
|
rs542983923
|
0.00009
|
NM_015311.3(OBSL1):c.4133C>T (p.Thr1378Met)
|
rs200449388
|
0.00009
|
NM_015602.4(TOR1AIP1):c.1319G>A (p.Arg440His)
|
rs145065164
|
0.00009
|
NM_018136.5(ASPM):c.5333T>C (p.Ile1778Thr)
|
rs777352982
|
0.00009
|
NM_021942.6(TRAPPC11):c.1277T>C (p.Val426Ala)
|
rs201263451
|
0.00009
|
NM_021942.6(TRAPPC11):c.1766A>G (p.Gln589Arg)
|
rs146053783
|
0.00009
|
NM_024596.5(MCPH1):c.2077C>T (p.Arg693Cys)
|
rs376996626
|
0.00009
|
NM_025074.7(FRAS1):c.2835G>A (p.Gln945=)
|
rs137923783
|
0.00009
|
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe)
|
rs746561147
|
0.00009
|
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser)
|
rs372072916
|
0.00009
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)
|
rs774075577
|
0.00008
|
NM_000231.3(SGCG):c.142G>A (p.Val48Ile)
|
rs369936288
|
0.00008
|
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile)
|
rs201329880
|
0.00008
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr)
|
rs147923905
|
0.00008
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn)
|
rs190623423
|
0.00008
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
NM_015602.4(TOR1AIP1):c.373C>G (p.Arg125Gly)
|
rs201023108
|
0.00008
|
NM_021942.6(TRAPPC11):c.2756G>A (p.Ser919Asn)
|
rs753388968
|
0.00008
|
NM_022464.5(SIL1):c.1022C>T (p.Thr341Met)
|
rs372399027
|
0.00008
|
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)
|
rs138961848
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_000231.3(SGCG):c.792C>G (p.Ile264Met)
|
rs377620885
|
0.00007
|
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)
|
rs752492870
|
0.00007
|
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)
|
rs180819807
|
0.00007
|
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)
|
rs76394784
|
0.00007
|
NM_001206999.2(CIT):c.3271G>A (p.Val1091Ile)
|
rs200184645
|
0.00007
|
NM_003805.5(CRADD):c.497G>A (p.Arg166His)
|
rs746685035
|
0.00007
|
NM_004525.3(LRP2):c.3190A>G (p.Asn1064Asp)
|
rs916737558
|
0.00007
|
NM_004525.3(LRP2):c.3285C>T (p.Gly1095=)
|
rs986671553
|
0.00007
|
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)
|
rs137853150
|
0.00007
|
NM_006432.5(NPC2):c.-1G>C
|
rs756433737
|
0.00007
|
NM_006736.6(DNAJB2):c.175+2T>A
|
rs562669797
|
0.00007
|
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)
|
rs121918548
|
0.00007
|
NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs)
|
rs747831095
|
0.00007
|
NM_021942.6(TRAPPC11):c.3211G>A (p.Gly1071Ser)
|
rs141588557
|
0.00007
|
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly)
|
rs375322787
|
0.00007
|
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu)
|
rs753599819
|
0.00007
|
NM_000023.4(SGCA):c.1063C>T (p.Arg355Trp)
|
rs766855169
|
0.00006
|
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)
|
rs199804735
|
0.00006
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000231.3(SGCG):c.302C>T (p.Ser101Leu)
|
rs886042370
|
0.00006
|
NM_000231.3(SGCG):c.385G>A (p.Gly129Ser)
|
rs747046381
|
0.00006
|
NM_000232.5(SGCB):c.29A>G (p.Glu10Gly)
|
rs1452778513
|
0.00006
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
NM_000360.4(TH):c.13G>A (p.Asp5Asn)
|
rs777016570
|
0.00006
|
NM_000782.5(CYP24A1):c.425A>G (p.Lys142Arg)
|
rs760244872
|
0.00006
|
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro)
|
rs369363177
|
0.00006
|
NM_001042517.2(DIAPH3):c.2121A>C (p.Lys707Asn)
|
rs776010269
|
0.00006
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00006
|
NM_001161403.3(LIMS2):c.145C>A (p.Pro49Thr)
|
rs202166665
|
0.00006
|
NM_001161403.3(LIMS2):c.256C>T (p.Arg86Cys)
|
rs757640443
|
0.00006
|
NM_001292063.2(OTOG):c.5185G>A (p.Gly1729Arg)
|
rs368666159
|
0.00006
|
NM_001367624.2(ZNF469):c.4771G>T (p.Ala1591Ser)
|
rs755066385
|
0.00006
|
NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val)
|
rs374368341
|
0.00006
|
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu)
|
rs755485250
|
0.00006
|
NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys)
|
rs114872818
|
0.00006
|
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu)
|
rs758618193
|
0.00006
|
NM_005876.5(SPEG):c.4883C>T (p.Ala1628Val)
|
rs199971371
|
0.00006
|
NM_006014.5(LAGE3):c.29G>A (p.Gly10Glu)
|
rs782019621
|
0.00006
|
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
|
rs200707453
|
0.00006
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
NM_014425.5(INVS):c.2764G>C (p.Val922Leu)
|
rs375031657
|
0.00006
|
NM_014806.5(RUSC2):c.737G>A (p.Gly246Glu)
|
rs894040978
|
0.00006
|
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)
|
rs749136456
|
0.00006
|
NM_020066.5(FMN2):c.3560C>T (p.Pro1187Leu)
|
rs372947608
|
0.00006
|
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg)
|
rs200456950
|
0.00006
|
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly)
|
rs200078740
|
0.00006
|
NM_021942.6(TRAPPC11):c.1244G>A (p.Gly415Glu)
|
rs150383310
|
0.00006
|
NM_021942.6(TRAPPC11):c.1745A>G (p.Gln582Arg)
|
rs533474499
|
0.00006
|
NM_021942.6(TRAPPC11):c.2651C>T (p.Thr884Ile)
|
rs373484248
|
0.00006
|
NM_022464.5(SIL1):c.1030-9G>A
|
rs370290043
|
0.00006
|
NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys)
|
rs757012933
|
0.00006
|
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln)
|
rs142648652
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
0.00006
|
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu)
|
rs558530329
|
0.00006
|
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met)
|
rs747660857
|
0.00006
|
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)
|
rs377750405
|
0.00006
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His)
|
rs138703739
|
0.00005
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
0.00005
|
NM_000320.3(QDPR):c.728A>G (p.Tyr243Cys)
|
rs565356844
|
0.00005
|
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser)
|
rs11574323
|
0.00005
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
NM_001161403.3(LIMS2):c.289C>T (p.Pro97Ser)
|
rs368536679
|
0.00005
|
NM_001161403.3(LIMS2):c.301C>T (p.Arg101Cys)
|
rs201636855
|
0.00005
|
NM_001161403.3(LIMS2):c.616G>A (p.Glu206Lys)
|
rs368003558
|
0.00005
|
NM_001692.4(ATP6V1B1):c.940C>T (p.Arg314Cys)
|
rs147187470
|
0.00005
|
NM_003805.5(CRADD):c.382G>C (p.Gly128Arg)
|
rs387906861
|
0.00005
|
NM_015602.4(TOR1AIP1):c.638A>G (p.Asn213Ser)
|
rs200495464
|
0.00005
|
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)
|
rs182489063
|
0.00005
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
NM_021942.6(TRAPPC11):c.1220C>A (p.Ser407Tyr)
|
rs375379302
|
0.00005
|
NM_022095.4(ZNF335):c.857G>A (p.Arg286Gln)
|
rs559354455
|
0.00005
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_025074.7(FRAS1):c.9628G>A (p.Ala3210Thr)
|
rs145189350
|
0.00005
|
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)
|
rs398124502
|
0.00005
|
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)
|
rs80356595
|
0.00005
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00004
|
NM_000023.4(SGCA):c.467G>A (p.Arg156His)
|
rs558473298
|
0.00004
|
NM_000023.4(SGCA):c.582A>C (p.Glu194Asp)
|
rs199791980
|
0.00004
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000231.3(SGCG):c.270G>T (p.Leu90Phe)
|
rs368524463
|
0.00004
|
NM_000231.3(SGCG):c.670A>G (p.Met224Val)
|
rs372188878
|
0.00004
|
NM_000232.5(SGCB):c.137C>T (p.Pro46Leu)
|
rs148525453
|
0.00004
|
NM_000232.5(SGCB):c.1_2del (p.Met1fs)
|
rs886042503
|
0.00004
|
NM_000232.5(SGCB):c.838G>A (p.Gly280Ser)
|
rs879945095
|
0.00004
|
NM_000271.5(NPC1):c.695A>G (p.Asp232Gly)
|
rs201956601
|
0.00004
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)
|
rs62516151
|
0.00004
|
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)
|
rs76296470
|
0.00004
|
NM_000277.3(PAH):c.472C>T (p.Arg158Trp)
|
rs75166491
|
0.00004
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)
|
rs62514957
|
0.00004
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00004
|
NM_000360.4(TH):c.794G>A (p.Arg265Gln)
|
rs199961079
|
0.00004
|
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)
|
rs778458082
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_001031679.3(MSRB3):c.77-2A>G
|
rs145704693
|
0.00004
|
NM_001034852.3(SMOC1):c.584-2A>G
|
rs772178551
|
0.00004
|
NM_001161403.3(LIMS2):c.20C>T (p.Ser7Leu)
|
rs369093987
|
0.00004
|
NM_001161403.3(LIMS2):c.290C>T (p.Pro97Leu)
|
rs768056213
|
0.00004
|
NM_001161403.3(LIMS2):c.424C>T (p.Arg142Trp)
|
rs780800196
|
0.00004
|
NM_001161403.3(LIMS2):c.49C>T (p.Arg17Cys)
|
rs760929162
|
0.00004
|
NM_001378609.3(OTOGL):c.3213+1G>A
|
rs370730786
|
0.00004
|
NM_001379286.1(ZNF423):c.2738G>A (p.Arg913Gln)
|
rs777432098
|
0.00004
|
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)
|
rs587777138
|
0.00004
|
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)
|
rs375113643
|
0.00004
|
NM_003504.5(CDC45):c.1388C>T (p.Pro463Leu)
|
rs751663397
|
0.00004
|
NM_005876.5(SPEG):c.7876T>C (p.Ser2626Pro)
|
rs200008141
|
0.00004
|
NM_005876.5(SPEG):c.9016C>T (p.Arg3006Trp)
|
rs781096883
|
0.00004
|
NM_005876.5(SPEG):c.9078C>T (p.His3026=)
|
rs541299207
|
0.00004
|
NM_006019.4(TCIRG1):c.2236+1G>A
|
rs1475338876
|
0.00004
|
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)
|
rs752941297
|
0.00004
|
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)
|
rs763504656
|
0.00004
|
NM_014956.5(CEP164):c.779C>A (p.Thr260Lys)
|
rs776372232
|
0.00004
|
NM_015311.3(OBSL1):c.3994C>T (p.Arg1332Trp)
|
rs200837976
|
0.00004
|
NM_017721.5(CC2D1A):c.542G>A (p.Arg181His)
|
rs542798158
|
0.00004
|
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg)
|
rs183142477
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_021942.6(TRAPPC11):c.1463G>T (p.Trp488Leu)
|
rs779673117
|
0.00004
|
NM_021942.6(TRAPPC11):c.1664T>A (p.Ile555Asn)
|
rs752315503
|
0.00004
|
NM_021942.6(TRAPPC11):c.2084C>T (p.Thr695Met)
|
rs759325090
|
0.00004
|
NM_021942.6(TRAPPC11):c.2579del (p.Leu860fs)
|
rs1216637259
|
0.00004
|
NM_021942.6(TRAPPC11):c.3194G>A (p.Arg1065Gln)
|
rs567387885
|
0.00004
|
NM_021942.6(TRAPPC11):c.660+3G>A
|
rs377549138
|
0.00004
|
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro)
|
rs563414935
|
0.00004
|
NM_022464.5(SIL1):c.623A>C (p.Asp208Ala)
|
rs145709743
|
0.00004
|
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter)
|
rs374596700
|
0.00004
|
NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp)
|
rs144402299
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_025074.7(FRAS1):c.10894C>T (p.Pro3632Ser)
|
rs576835969
|
0.00004
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
0.00004
|
NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala)
|
rs138232575
|
0.00004
|
NM_176824.3(BBS7):c.2042A>T (p.Lys681Ile)
|
rs534408910
|
0.00004
|
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)
|
rs80356605
|
0.00004
|
NM_203486.3(DLL3):c.915C>T (p.Tyr305=)
|
rs372702131
|
0.00004
|
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val)
|
rs1282394804
|
0.00003
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)
|
rs370819630
|
0.00003
|
NM_000023.4(SGCA):c.34G>A (p.Val12Met)
|
rs766209304
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr)
|
rs759284746
|
0.00003
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000057.4(BLM):c.403G>T (p.Ala135Ser)
|
rs373832397
|
0.00003
|
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser)
|
rs137852616
|
0.00003
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)
|
rs199475619
|
0.00003
|
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
NM_000277.3(PAH):c.60+5G>T
|
rs62514895
|
0.00003
|
NM_000277.3(PAH):c.745C>T (p.Leu249Phe)
|
rs74503222
|
0.00003
|
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)
|
rs72547562
|
0.00003
|
NM_000553.6(WRN):c.2944C>T (p.Pro982Ser)
|
rs756832663
|
0.00003
|
NM_000784.4(CYP27A1):c.1263+1G>A
|
rs397515355
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
NM_001083961.2(WDR62):c.3469G>A (p.Ala1157Thr)
|
rs144347678
|
0.00003
|
NM_001127671.2(LIFR):c.258G>T (p.Arg86Ser)
|
rs199505838
|
0.00003
|
NM_001161403.3(LIMS2):c.11+1305G>A
|
rs991541495
|
0.00003
|
NM_001161403.3(LIMS2):c.433C>G (p.Leu145Val)
|
rs746614706
|
0.00003
|
NM_001161403.3(LIMS2):c.628G>A (p.Val210Ile)
|
rs575987494
|
0.00003
|
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=)
|
rs752326108
|
0.00003
|
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr)
|
rs767140972
|
0.00003
|
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)
|
rs775267638
|
0.00003
|
NM_003104.6(SORD):c.328C>T (p.Arg110Ter)
|
rs745509632
|
0.00003
|
NM_003619.4(PRSS12):c.1837+1G>A
|
rs201470712
|
0.00003
|
NM_004525.3(LRP2):c.1501C>T (p.Arg501Trp)
|
rs760488801
|
0.00003
|
NM_004525.3(LRP2):c.1978A>G (p.Thr660Ala)
|
rs556737893
|
0.00003
|
NM_006019.4(TCIRG1):c.1554+2T>A
|
rs761918801
|
0.00003
|
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
|
rs267606821
|
0.00003
|
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln)
|
rs139670073
|
0.00003
|
NM_015378.4(VPS13D):c.10169G>A (p.Arg3390Gln)
|
rs769010867
|
0.00003
|
NM_015602.4(TOR1AIP1):c.305G>A (p.Ser102Asn)
|
rs375448136
|
0.00003
|
NM_015665.6(AAAS):c.1331+1G>A
|
rs150511103
|
0.00003
|
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
NM_016302.4(CRBN):c.724C>T (p.Arg242Cys)
|
rs541404259
|
0.00003
|
NM_017721.5(CC2D1A):c.2776G>C (p.Asp926His)
|
rs576457697
|
0.00003
|
NM_018075.5(ANO10):c.139+1G>T
|
rs777450156
|
0.00003
|
NM_020964.3(EPG5):c.5123G>A (p.Gly1708Asp)
|
rs750664406
|
0.00003
|
NM_021942.6(TRAPPC11):c.43C>T (p.Arg15Trp)
|
rs532605756
|
0.00003
|
NM_021942.6(TRAPPC11):c.899A>T (p.Asp300Val)
|
rs768253464
|
0.00003
|
NM_025074.7(FRAS1):c.7744A>C (p.Asn2582His)
|
rs774114715
|
0.00003
|
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)
|
rs770461067
|
0.00003
|
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)
|
rs376040501
|
0.00003
|
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)
|
rs181546197
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu)
|
rs368616652
|
0.00003
|
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser)
|
rs200124094
|
0.00003
|
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu)
|
rs587783342
|
0.00003
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr)
|
rs375692868
|
0.00002
|
NM_000023.4(SGCA):c.197T>A (p.Leu66His)
|
rs767928766
|
0.00002
|
NM_000023.4(SGCA):c.199C>G (p.Gln67Glu)
|
rs753180048
|
0.00002
|
NM_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
NM_000023.4(SGCA):c.724G>A (p.Val242Ile)
|
rs200166783
|
0.00002
|
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)
|
rs367543028
|
0.00002
|
NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu)
|
rs137852614
|
0.00002
|
NM_000231.3(SGCG):c.407A>G (p.Gln136Arg)
|
rs569816696
|
0.00002
|
NM_000231.3(SGCG):c.535G>A (p.Val179Met)
|
rs139072866
|
0.00002
|
NM_000231.3(SGCG):c.623G>T (p.Gly208Val)
|
rs778119056
|
0.00002
|
NM_000232.5(SGCB):c.14C>A (p.Ala5Glu)
|
rs886158091
|
0.00002
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00002
|
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)
|
rs762412447
|
0.00002
|
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile)
|
rs774910076
|
0.00002
|
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)
|
rs753768576
|
0.00002
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00002
|
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
0.00002
|
NM_000302.4(PLOD1):c.310G>A (p.Val104Met)
|
rs141809154
|
0.00002
|
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn)
|
rs556958354
|
0.00002
|
NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter)
|
rs988715134
|
0.00002
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)
|
rs200495564
|
0.00002
|
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)
|
rs587782885
|
0.00002
|
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)
|
rs786203115
|
0.00002
|
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala)
|
rs587778537
|
0.00002
|
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg)
|
rs539194432
|
0.00002
|
NM_001161403.3(LIMS2):c.108C>A (p.Tyr36Ter)
|
rs752899664
|
0.00002
|
NM_001161403.3(LIMS2):c.79C>T (p.Arg27Cys)
|
rs375142763
|
0.00002
|
NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter)
|
rs373915080
|
0.00002
|
NM_001292063.2(OTOG):c.8520T>A (p.Asn2840Lys)
|
rs754033112
|
0.00002
|
NM_001367624.2(ZNF469):c.9019G>A (p.Asp3007Asn)
|
rs886881362
|
0.00002
|
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala)
|
rs533327313
|
0.00002
|
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His)
|
rs781737308
|
0.00002
|
NM_001384474.1(LOXHD1):c.4212+1G>A
|
rs889110926
|
0.00002
|
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met)
|
rs764274123
|
0.00002
|
NM_003801.4(GPAA1):c.643C>T (p.Arg215Ter)
|
rs782498857
|
0.00002
|
NM_003896.4(ST3GAL5):c.282del (p.Met94fs)
|
rs1383734078
|
0.00002
|
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter)
|
rs104893668
|
0.00002
|
NM_004447.6(EPS8):c.205-8A>G
|
rs180899529
|
0.00002
|
NM_004525.3(LRP2):c.8872G>T (p.Asp2958Tyr)
|
rs1303301378
|
0.00002
|
NM_006019.4(TCIRG1):c.117+1G>A
|
rs377303800
|
0.00002
|
NM_006019.4(TCIRG1):c.1555-2A>C
|
rs758977199
|
0.00002
|
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val)
|
rs377034463
|
0.00002
|
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)
|
rs375722463
|
0.00002
|
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr)
|
rs190383030
|
0.00002
|
NM_014425.5(INVS):c.2263G>A (p.Glu755Lys)
|
rs774692372
|
0.00002
|
NM_014797.3(ZBTB24):c.1208A>G (p.His403Arg)
|
rs140690133
|
0.00002
|
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)
|
rs397509363
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)
|
rs748868741
|
0.00002
|
NM_016239.4(MYO15A):c.4038+3A>G
|
rs564616200
|
0.00002
|
NM_018136.5(ASPM):c.2103G>A (p.Gln701=)
|
rs370972881
|
0.00002
|
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)
|
rs587783227
|
0.00002
|
NM_018136.5(ASPM):c.582T>C (p.Ala194=)
|
rs556849969
|
0.00002
|
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)
|
rs553697188
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp)
|
rs140246430
|
0.00002
|
NM_020964.3(EPG5):c.1104C>T (p.Phe368=)
|
rs562098384
|
0.00002
|
NM_020964.3(EPG5):c.4771G>A (p.Gly1591Ser)
|
rs370120497
|
0.00002
|
NM_021942.6(TRAPPC11):c.2242A>G (p.Ile748Val)
|
rs368432060
|
0.00002
|
NM_021942.6(TRAPPC11):c.2786C>G (p.Ser929Cys)
|
rs1275717721
|
0.00002
|
NM_021942.6(TRAPPC11):c.3221A>C (p.Gln1074Pro)
|
rs368699954
|
0.00002
|
NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys)
|
rs758805684
|
0.00002
|
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser)
|
rs190513580
|
0.00002
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
NM_025074.7(FRAS1):c.3157C>A (p.Pro1053Thr)
|
rs139162588
|
0.00002
|
NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu)
|
rs779286671
|
0.00002
|
NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter)
|
rs186964660
|
0.00002
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00002
|
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)
|
rs201753421
|
0.00002
|
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
|
rs763375578
|
0.00001
|
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)
|
rs540254057
|
0.00001
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000023.4(SGCA):c.1108C>T (p.Arg370Trp)
|
rs368243053
|
0.00001
|
NM_000023.4(SGCA):c.1121G>A (p.Arg374His)
|
rs150524482
|
0.00001
|
NM_000023.4(SGCA):c.131C>T (p.Thr44Met)
|
rs770516658
|
0.00001
|
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)
|
rs60407644
|
0.00001
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
NM_000023.4(SGCA):c.354G>A (p.Gln118=)
|
rs772233387
|
0.00001
|
NM_000023.4(SGCA):c.37+3A>G
|
rs1370709181
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn)
|
rs771485989
|
0.00001
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
NM_000023.4(SGCA):c.585-1G>A
|
rs1342189589
|
0.00001
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00001
|
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)
|
rs760608643
|
0.00001
|
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser)
|
rs886042858
|
0.00001
|
NM_000023.4(SGCA):c.957-11C>G
|
rs1391089933
|
0.00001
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
|
rs754203833
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.572G>T (p.Arg191Ile)
|
rs569086568
|
0.00001
|
NM_000231.3(SGCG):c.236G>A (p.Arg79His)
|
rs375766013
|
0.00001
|
NM_000231.3(SGCG):c.34G>A (p.Gly12Ser)
|
rs761027747
|
0.00001
|
NM_000231.3(SGCG):c.352T>C (p.Ser118Pro)
|
rs766126721
|
0.00001
|
NM_000231.3(SGCG):c.392A>G (p.Lys131Arg)
|
rs544414698
|
0.00001
|
NM_000231.3(SGCG):c.440G>A (p.Gly147Asp)
|
rs767605031
|
0.00001
|
NM_000231.3(SGCG):c.579-2A>G
|
rs754415994
|
0.00001
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
NM_000231.3(SGCG):c.833G>A (p.Gly278Asp)
|
rs748255972
|
0.00001
|
NM_000231.3(SGCG):c.87dup (p.Gly30fs)
|
rs762777463
|
0.00001
|
NM_000232.5(SGCB):c.1A>G (p.Met1Val)
|
rs398123262
|
0.00001
|
NM_000232.5(SGCB):c.265G>A (p.Val89Met)
|
rs762652676
|
0.00001
|
NM_000232.5(SGCB):c.370A>G (p.Lys124Glu)
|
rs760596229
|
0.00001
|
NM_000232.5(SGCB):c.429+5G>A
|
rs794727477
|
0.00001
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
NM_000232.5(SGCB):c.502A>G (p.Met168Val)
|
rs754465904
|
0.00001
|
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)
|
rs751427686
|
0.00001
|
NM_000232.5(SGCB):c.67C>T (p.Arg23Cys)
|
rs529566743
|
0.00001
|
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser)
|
rs759130222
|
0.00001
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser)
|
rs200291759
|
0.00001
|
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
|
rs120074135
|
0.00001
|
NM_000271.5(NPC1):c.2933G>A (p.Arg978His)
|
rs752728865
|
0.00001
|
NM_000277.3(PAH):c.169-2A>G
|
rs1226613045
|
0.00001
|
NM_000277.3(PAH):c.441+1G>A
|
rs62517166
|
0.00001
|
NM_000277.3(PAH):c.441+5G>T
|
rs62507321
|
0.00001
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000277.3(PAH):c.665A>G (p.Asp222Gly)
|
rs62507319
|
0.00001
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
0.00001
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)
|
rs62642936
|
0.00001
|
NM_000277.3(PAH):c.941C>A (p.Pro314His)
|
rs62642940
|
0.00001
|
NM_000277.3(PAH):c.969+6T>A
|
rs62517196
|
0.00001
|
NM_000302.4(PLOD1):c.797G>A (p.Gly266Asp)
|
rs558752942
|
0.00001
|
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)
|
rs104894275
|
0.00001
|
NM_000317.3(PTS):c.200C>T (p.Thr67Met)
|
rs370340361
|
0.00001
|
NM_000320.3(QDPR):c.115A>C (p.Ser39Arg)
|
rs987746060
|
0.00001
|
NM_000360.4(TH):c.1103C>T (p.Thr368Met)
|
rs1057520384
|
0.00001
|
NM_000360.4(TH):c.5C>T (p.Pro2Leu)
|
rs139474171
|
0.00001
|
NM_000360.4(TH):c.646G>A (p.Gly216Ser)
|
rs762304556
|
0.00001
|
NM_000360.4(TH):c.850G>A (p.Gly284Ser)
|
rs1288483479
|
0.00001
|
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)
|
rs762379051
|
0.00001
|
NM_000553.6(WRN):c.394G>A (p.Ala132Thr)
|
rs951969651
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_001038603.3(MARVELD2):c.1147-2A>G
|
rs763062791
|
0.00001
|
NM_001042472.3(ABHD12):c.867+2C>T
|
rs1437849678
|
0.00001
|
NM_001042472.3(ABHD12):c.967T>C (p.Cys323Arg)
|
rs375661124
|
0.00001
|
NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp)
|
rs587778539
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+1G>A
|
rs587781337
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.1429T>G (p.Cys477Gly)
|
rs876659488
|
0.00001
|
NM_001048174.2(MUTYH):c.1434+1G>C
|
rs876659420
|
0.00001
|
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)
|
rs777184451
|
0.00001
|
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)
|
rs587781864
|
0.00001
|
NM_001048174.2(MUTYH):c.694C>T (p.Gln232Ter)
|
rs773087549
|
0.00001
|
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)
|
rs769237459
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys)
|
rs199840380
|
0.00001
|
NM_001083961.2(WDR62):c.1194G>A (p.Trp398Ter)
|
rs769137869
|
0.00001
|
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
|
rs751734985
|
0.00001
|
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)
|
rs774628957
|
0.00001
|
NM_001139.3(ALOX12B):c.301G>A (p.Ala101Thr)
|
rs200663524
|
0.00001
|
NM_001160372.4(TRAPPC9):c.2597C>T (p.Pro866Leu)
|
rs199948844
|
0.00001
|
NM_001161403.3(LIMS2):c.661C>T (p.His221Tyr)
|
rs1490885244
|
0.00001
|
NM_001292063.2(OTOG):c.3682+1G>A
|
rs554063575
|
0.00001
|
NM_001292063.2(OTOG):c.6721del (p.Asp2241fs)
|
rs1478013002
|
0.00001
|
NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met)
|
rs553909579
|
0.00001
|
NM_001378609.3(OTOGL):c.2391-2A>G
|
rs374272301
|
0.00001
|
NM_001379286.1(ZNF423):c.3322G>A (p.Ala1108Thr)
|
rs778755872
|
0.00001
|
NM_001382391.1(CSPP1):c.303+3A>T
|
rs920556156
|
0.00001
|
NM_001384474.1(LOXHD1):c.4531-2A>G
|
rs951333133
|
0.00001
|
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)
|
rs961865375
|
0.00001
|
NM_001393500.2(TOMT):c.73C>T (p.Arg25Ter)
|
rs1298804148
|
0.00001
|
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
NM_001543.5(NDST1):c.883G>A (p.Val295Met)
|
rs747017483
|
0.00001
|
NM_001692.4(ATP6V1B1):c.1248+1G>C
|
rs1553420702
|
0.00001
|
NM_001983.4(ERCC1):c.121C>T (p.Arg41Ter)
|
rs867518898
|
0.00001
|
NM_002454.3(MTRR):c.589G>C (p.Asp197His)
|
rs748186027
|
0.00001
|
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe)
|
rs1343821146
|
0.00001
|
NM_003573.2(LTBP4):c.76-1G>A
|
rs781735457
|
0.00001
|
NM_004447.6(EPS8):c.2104C>T (p.Arg702Trp)
|
rs201426875
|
0.00001
|
NM_004700.4(KCNQ4):c.1208C>T (p.Pro403Leu)
|
rs887762794
|
0.00001
|
NM_005876.5(SPEG):c.1149C>T (p.Arg383=)
|
rs1295142218
|
0.00001
|
NM_005876.5(SPEG):c.1612C>T (p.Arg538Trp)
|
rs1381276826
|
0.00001
|
NM_005876.5(SPEG):c.2763G>T (p.Glu921Asp)
|
rs956843160
|
0.00001
|
NM_005876.5(SPEG):c.7442C>T (p.Ser2481Leu)
|
rs1343314943
|
0.00001
|
NM_005881.4(BCKDK):c.529C>T (p.Arg177Trp)
|
rs774302251
|
0.00001
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
NM_006736.6(DNAJB2):c.184C>T (p.Arg62Trp)
|
rs747378005
|
0.00001
|
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp)
|
rs199921604
|
0.00001
|
NM_013322.3(SNX10):c.284G>A (p.Arg95His)
|
rs897553060
|
0.00001
|
NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=)
|
rs1391075754
|
0.00001
|
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)
|
rs767435985
|
0.00001
|
NM_014363.6(SACS):c.561C>T (p.Val187=)
|
rs758653462
|
0.00001
|
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00001
|
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)
|
rs567650774
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_015602.4(TOR1AIP1):c.371C>T (p.Thr124Met)
|
rs377375784
|
0.00001
|
NM_015602.4(TOR1AIP1):c.404C>T (p.Ser135Leu)
|
rs760733600
|
0.00001
|
NM_015602.4(TOR1AIP1):c.455G>A (p.Arg152Gln)
|
rs773422033
|
0.00001
|
NM_015602.4(TOR1AIP1):c.907A>G (p.Asn303Asp)
|
rs770895707
|
0.00001
|
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)
|
rs121918547
|
0.00001
|
NM_015702.3(MMADHC):c.154+1G>A
|
rs1385597423
|
0.00001
|
NM_015702.3(MMADHC):c.155-3C>T
|
rs773403678
|
0.00001
|
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn)
|
rs767270134
|
0.00001
|
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln)
|
rs760980785
|
0.00001
|
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter)
|
rs768257384
|
0.00001
|
NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter)
|
rs1330631412
|
0.00001
|
NM_016529.6(ATP8A2):c.3272+1G>A
|
rs779337270
|
0.00001
|
NM_016938.5(EFEMP2):c.321C>A (p.Asn107Lys)
|
rs762409753
|
0.00001
|
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)
|
rs193302864
|
0.00001
|
NM_017433.5(MYO3A):c.2972G>A (p.Arg991Gln)
|
rs764099857
|
0.00001
|
NM_017433.5(MYO3A):c.3003del (p.Tyr1002fs)
|
rs746055369
|
0.00001
|
NM_017721.5(CC2D1A):c.511_513+1del
|
rs777057767
|
0.00001
|
NM_018075.5(ANO10):c.1163-9A>G
|
rs1368543726
|
0.00001
|
NM_018131.5(CEP55):c.1274C>A (p.Ser425Ter)
|
rs201430235
|
0.00001
|
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu)
|
rs576139929
|
0.00001
|
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter)
|
rs751326753
|
0.00001
|
NM_018136.5(ASPM):c.9444+1G>T
|
rs1656796807
|
0.00001
|
NM_018249.6(CDK5RAP2):c.749C>T (p.Pro250Leu)
|
rs568558844
|
0.00001
|
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)
|
rs1064794819
|
0.00001
|
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys)
|
rs782672149
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)
|
rs28939081
|
0.00001
|
NM_020964.3(EPG5):c.1A>G (p.Met1Val)
|
rs1135402732
|
0.00001
|
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter)
|
rs761554022
|
0.00001
|
NM_020964.3(EPG5):c.4498T>A (p.Leu1500Met)
|
rs201986809
|
0.00001
|
NM_021942.6(TRAPPC11):c.1208G>A (p.Ser403Asn)
|
rs761391260
|
0.00001
|
NM_021942.6(TRAPPC11):c.1396G>A (p.Ala466Thr)
|
rs756747035
|
0.00001
|
NM_021942.6(TRAPPC11):c.1735A>G (p.Ile579Val)
|
rs368529822
|
0.00001
|
NM_021942.6(TRAPPC11):c.2071C>G (p.Leu691Val)
|
rs777107611
|
0.00001
|
NM_021942.6(TRAPPC11):c.212C>T (p.Ser71Leu)
|
rs774887816
|
0.00001
|
NM_021942.6(TRAPPC11):c.2531G>A (p.Arg844His)
|
rs781082721
|
0.00001
|
NM_021942.6(TRAPPC11):c.2708A>G (p.Glu903Gly)
|
rs1398795151
|
0.00001
|
NM_021942.6(TRAPPC11):c.2761T>G (p.Ser921Ala)
|
rs755600230
|
0.00001
|
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu)
|
rs764158202
|
0.00001
|
NM_021942.6(TRAPPC11):c.3189+1G>A
|
rs1170374164
|
0.00001
|
NM_021942.6(TRAPPC11):c.3253G>T (p.Ala1085Ser)
|
rs1319124548
|
0.00001
|
NM_021942.6(TRAPPC11):c.44G>A (p.Arg15Gln)
|
rs368097747
|
0.00001
|
NM_021942.6(TRAPPC11):c.660+5G>A
|
rs770891745
|
0.00001
|
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter)
|
rs587777626
|
0.00001
|
NM_024596.5(MCPH1):c.135A>C (p.Lys45Asn)
|
rs374363568
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter)
|
rs1460031293
|
0.00001
|
NM_031942.5(CDCA7):c.1148G>A (p.Arg383His)
|
rs772929976
|
0.00001
|
NM_032575.3(GLIS2):c.344C>T (p.Ser115Leu)
|
rs771450245
|
0.00001
|
NM_138387.4(G6PC3):c.926T>G (p.Phe309Cys)
|
rs750695182
|
0.00001
|
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)
|
rs1295732689
|
0.00001
|
NM_138694.4(PKHD1):c.11786-3C>A
|
rs746467881
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)
|
rs727504089
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)
|
rs794727566
|
0.00001
|
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)
|
rs137852947
|
0.00001
|
NM_138694.4(PKHD1):c.8554+1G>A
|
rs1790925351
|
0.00001
|
NM_138694.4(PKHD1):c.9907del (p.Ser3303fs)
|
rs1785247939
|
0.00001
|
NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val)
|
rs1168855290
|
0.00001
|
NM_139343.3(BIN1):c.1114G>A (p.Val372Met)
|
rs749198133
|
0.00001
|
NM_139343.3(BIN1):c.1461+1G>A
|
rs764951306
|
0.00001
|
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val)
|
rs774321875
|
0.00001
|
NM_139343.3(BIN1):c.784A>C (p.Asn262His)
|
rs1331854784
|
0.00001
|
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu)
|
rs754707833
|
0.00001
|
NM_148919.4(PSMB8):c.686G>A (p.Arg229His)
|
rs547653681
|
0.00001
|
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter)
|
rs1194574169
|
0.00001
|
NM_153700.2(STRC):c.4510del (p.Glu1504fs)
|
rs759816064
|
0.00001
|
NM_153747.2(PIGC):c.574C>T (p.Arg192Cys)
|
rs768479943
|
0.00001
|
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter)
|
rs1171657935
|
0.00001
|
NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter)
|
rs374049779
|
0.00001
|
NM_203486.3(DLL3):c.621C>A (p.Cys207Ter)
|
rs771875570
|
0.00001
|
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs)
|
rs1565297723
|
|
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)
|
rs866364527
|
|
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)
|
rs541517496
|
|
NM_000019.4(ACAT1):c.592G>A (p.Glu198Lys)
|
|
|
NM_000023.4(SGCA):c.13C>G (p.Leu5Val)
|
rs2144488329
|
|
NM_000023.4(SGCA):c.157G>T (p.Ala53Ser)
|
|
|
NM_000023.4(SGCA):c.158-2A>G
|
rs1057516300
|
|
NM_000023.4(SGCA):c.183dup (p.Tyr62fs)
|
rs886044688
|
|
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)
|
rs766400853
|
|
NM_000023.4(SGCA):c.194A>C (p.His65Pro)
|
|
|
NM_000023.4(SGCA):c.212A>T (p.Asp71Val)
|
|
|
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)
|
rs398123098
|
|
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys)
|
rs890921874
|
|
NM_000023.4(SGCA):c.28C>T (p.Leu10Phe)
|
|
|
NM_000023.4(SGCA):c.304G>T (p.Val102Phe)
|
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
|
NM_000023.4(SGCA):c.319G>A (p.Ala107Thr)
|
|
|
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)
|
rs1555568518
|
|
NM_000023.4(SGCA):c.37+1G>C
|
rs111386656
|
|
NM_000023.4(SGCA):c.37+6T>C
|
rs751466815
|
|
NM_000023.4(SGCA):c.376G>A (p.Asp126Asn)
|
rs1905070029
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)
|
rs886043221
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.466C>A (p.Arg156Ser)
|
|
|
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)
|
rs574376340
|
|
NM_000023.4(SGCA):c.542G>A (p.Arg181His)
|
|
|
NM_000023.4(SGCA):c.558_559del (p.Leu187fs)
|
|
|
NM_000023.4(SGCA):c.584+5G>A
|
|
|
NM_000023.4(SGCA):c.635T>C (p.Met212Thr)
|
|
|
NM_000023.4(SGCA):c.662G>C (p.Arg221Pro)
|
rs138254713
|
|
NM_000023.4(SGCA):c.722G>A (p.Arg241His)
|
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000023.4(SGCA):c.748-10C>A
|
rs886042777
|
|
NM_000023.4(SGCA):c.749T>G (p.Val250Gly)
|
|
|
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)
|
rs1057517377
|
|
NM_000023.4(SGCA):c.760G>T (p.Val254Leu)
|
|
|
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)
|
rs137852623
|
|
NM_000023.4(SGCA):c.904del (p.Leu302fs)
|
rs2144501172
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000023.4(SGCA):c.985A>T (p.Ile329Phe)
|
|
|
NM_000057.4(BLM):c.1088C>T (p.Ala363Val)
|
rs1567040460
|
|
NM_000057.4(BLM):c.1341del (p.Asn448fs)
|
rs2151158046
|
|
NM_000057.4(BLM):c.1624del (p.Asp542fs)
|
rs747498968
|
|
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs)
|
rs1555419980
|
|
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)
|
rs762804291
|
|
NM_000057.4(BLM):c.2583T>C (p.Asn861=)
|
rs1896651230
|
|
NM_000057.4(BLM):c.2584C>A (p.Leu862Met)
|
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.3638del (p.Glu1213fs)
|
rs1057516547
|
|
NM_000057.4(BLM):c.3730G>A (p.Val1244Ile)
|
rs1249106324
|
|
NM_000057.4(BLM):c.397dup (p.Asp133fs)
|
rs2151147279
|
|
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs)
|
rs1057516261
|
|
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)
|
rs1555418352
|
|
NM_000057.4(BLM):c.598A>G (p.Thr200Ala)
|
rs1895627174
|
|
NM_000057.4(BLM):c.608_609del (p.Thr203fs)
|
rs1170049553
|
|
NM_000057.4(BLM):c.800-2A>G
|
rs1895690125
|
|
NM_000057.4(BLM):c.83C>G (p.Ser28Ter)
|
rs2151145090
|
|
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter)
|
rs1464015799
|
|
NM_000231.3(SGCG):c.117T>A (p.Phe39Leu)
|
rs1877867873
|
|
NM_000231.3(SGCG):c.121CTT[1] (p.Leu44del)
|
rs1349925286
|
|
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)
|
rs781760379
|
|
NM_000231.3(SGCG):c.177dup (p.Val60fs)
|
rs2137501584
|
|
NM_000231.3(SGCG):c.195+3A>T
|
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)
|
|
|
NM_000231.3(SGCG):c.229G>A (p.Gly77Arg)
|
|
|
NM_000231.3(SGCG):c.256T>G (p.Phe86Val)
|
|
|
NM_000231.3(SGCG):c.275C>A (p.Ala92Asp)
|
rs886044395
|
|
NM_000231.3(SGCG):c.361G>T (p.Glu121Ter)
|
|
|
NM_000231.3(SGCG):c.369dup (p.Gly124fs)
|
|
|
NM_000231.3(SGCG):c.385+2T>G
|
rs200206447
|
|
NM_000231.3(SGCG):c.385G>C (p.Gly129Arg)
|
|
|
NM_000231.3(SGCG):c.386-2A>G
|
rs886042757
|
|
NM_000231.3(SGCG):c.434A>G (p.Asn145Ser)
|
rs1451332880
|
|
NM_000231.3(SGCG):c.462T>A (p.Asp154Glu)
|
|
|
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)
|
rs1881865054
|
|
NM_000231.3(SGCG):c.517G>A (p.Ala173Thr)
|
rs886042216
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.526G>T (p.Glu176Ter)
|
rs768134426
|
|
NM_000231.3(SGCG):c.563C>T (p.Pro188Leu)
|
rs753806016
|
|
NM_000231.3(SGCG):c.575T>G (p.Leu192Arg)
|
rs1555245351
|
|
NM_000231.3(SGCG):c.655G>A (p.Glu219Lys)
|
|
|
NM_000231.3(SGCG):c.659C>T (p.Ala220Val)
|
|
|
NM_000231.3(SGCG):c.684del (p.His229fs)
|
rs2137528312
|
|
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg)
|
rs875989949
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
|
|
|
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)
|
rs1553940963
|
|
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)
|
rs1207685911
|
|
NM_000232.5(SGCB):c.102del (p.Glu35fs)
|
rs2109376007
|
|
NM_000232.5(SGCB):c.111C>T (p.Asn37=)
|
rs2109376000
|
|
NM_000232.5(SGCB):c.112A>C (p.Ser38Arg)
|
rs1456517729
|
|
NM_000232.5(SGCB):c.11C>T (p.Ala4Val)
|
|
|
NM_000232.5(SGCB):c.121A>G (p.Lys41Glu)
|
|
|
NM_000232.5(SGCB):c.199T>C (p.Cys67Arg)
|
|
|
NM_000232.5(SGCB):c.243+1548T>C
|
|
|
NM_000232.5(SGCB):c.243+1G>T
|
rs1553940663
|
|
NM_000232.5(SGCB):c.253_254del (p.Val85fs)
|
rs1553940274
|
|
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu)
|
rs104893869
|
|
NM_000232.5(SGCB):c.275T>C (p.Ile92Thr)
|
|
|
NM_000232.5(SGCB):c.278G>A (p.Gly93Glu)
|
|
|
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala)
|
rs1018529334
|
|
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)
|
rs104893870
|
|
NM_000232.5(SGCB):c.34-1G>A
|
rs1484409119
|
|
NM_000232.5(SGCB):c.346A>G (p.Met116Val)
|
rs752168132
|
|
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer)
|
rs1578126090
|
|
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)
|
rs398123263
|
|
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
|
|
|
NM_000232.5(SGCB):c.377C>T (p.Thr126Ile)
|
|
|
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer)
|
rs751427729
|
|
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)
|
rs1013015106
|
|
NM_000232.5(SGCB):c.413C>T (p.Thr138Ile)
|
|
|
NM_000232.5(SGCB):c.416G>A (p.Gly139Asp)
|
rs1560567653
|
|
NM_000232.5(SGCB):c.460A>G (p.Ser154Gly)
|
|
|
NM_000232.5(SGCB):c.479C>T (p.Thr160Ile)
|
|
|
NM_000232.5(SGCB):c.539del (p.Phe180fs)
|
rs1737176330
|
|
NM_000232.5(SGCB):c.572T>G (p.Leu191Trp)
|
|
|
NM_000232.5(SGCB):c.630C>A (p.Ser210Arg)
|
|
|
NM_000232.5(SGCB):c.644A>T (p.Asp215Val)
|
|
|
NM_000232.5(SGCB):c.650del (p.Asn217fs)
|
rs1553940079
|
|
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)
|
rs775458201
|
|
NM_000232.5(SGCB):c.718G>A (p.Glu240Lys)
|
|
|
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)
|
rs771814273
|
|
NM_000232.5(SGCB):c.87_89del (p.Arg30del)
|
rs780654411
|
|
NM_000232.5(SGCB):c.881C>T (p.Thr294Met)
|
|
|
NM_000232.5(SGCB):c.947A>G (p.Asn316Ser)
|
|
|
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)
|
rs886044103
|
|
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu)
|
rs1660806761
|
|
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs)
|
rs1572278166
|
|
NM_000254.3(MTR):c.3053dup (p.Asn1018fs)
|
rs1400658126
|
|
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
|
|
|
NM_000271.5(NPC1):c.1013T>C (p.Leu338Pro)
|
|
|
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)
|
rs1298238512
|
|
NM_000271.5(NPC1):c.1453T>G (p.Leu485Val)
|
|
|
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)
|
rs201156397
|
|
NM_000271.5(NPC1):c.1900T>A (p.Tyr634Asn)
|
|
|
NM_000271.5(NPC1):c.2531dup (p.Val845fs)
|
rs2145378067
|
|
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)
|
rs80358254
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)
|
rs893564568
|
|
NM_000271.5(NPC1):c.3340A>G (p.Met1114Val)
|
|
|
NM_000271.5(NPC1):c.3470_3473delinsAA (p.Leu1157fs)
|
|
|
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
|
|
|
NM_000271.5(NPC1):c.352_353del (p.Gln119fs)
|
rs759075595
|
|
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)
|
rs111256741
|
|
NM_000271.5(NPC1):c.749AGCCCC[3] (p.Pro253_Pro254insGlnPro)
|
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.168_168+1delinsAA
|
rs786204457
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
NM_000277.3(PAH):c.350_351del (p.Thr117fs)
|
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.509+1G>A
|
rs63102461
|
|
NM_000277.3(PAH):c.510T>G (p.His170Gln)
|
rs199475652
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)
|
rs62507323
|
|
NM_000277.3(PAH):c.720C>T (p.Phe240=)
|
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000277.3(PAH):c.946G>T (p.Glu316Ter)
|
|
|
NM_000281.4(PCBD1):c.117_121del (p.His39fs)
|
|
|
NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)
|
|
|
NM_000302.4(PLOD1):c.466+65C>A
|
|
|
NM_000317.3(PTS):c.166G>A (p.Val56Met)
|
rs104894277
|
|
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)
|
rs770387277
|
|
NM_000317.3(PTS):c.243+4A>G
|
|
|
NM_000317.3(PTS):c.256C>T (p.Gln86Ter)
|
|
|
NM_000317.3(PTS):c.73C>G (p.Arg25Gly)
|
rs1167104933
|
|
NM_000320.3(QDPR):c.105+1G>A
|
rs776171302
|
|
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
|
|
|
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)
|
rs575326605
|
|
NM_000360.4(TH):c.1285T>C (p.Ser429Pro)
|
|
|
NM_000360.4(TH):c.1462A>G (p.Thr488Ala)
|
|
|
NM_000360.4(TH):c.308T>C (p.Phe103Ser)
|
|
|
NM_000360.4(TH):c.392_395dup (p.Leu134fs)
|
|
|
NM_000360.4(TH):c.51del (p.Val18fs)
|
|
|
NM_000360.4(TH):c.617T>C (p.Ile206Thr)
|
|
|
NM_000360.4(TH):c.779del (p.Arg260fs)
|
|
|
NM_000382.3(ALDH3A2):c.1187_1188del (p.Ser396fs)
|
|
|
NM_000382.3(ALDH3A2):c.341C>T (p.Pro114Leu)
|
|
|
NM_000382.3(ALDH3A2):c.639_640del (p.Cys214fs)
|
|
|
NM_000382.3(ALDH3A2):c.776G>A (p.Trp259Ter)
|
|
|
NM_000553.6(WRN):c.1165del (p.Arg389fs)
|
rs878854131
|
|
NM_000553.6(WRN):c.2557G>A (p.Gly853Ser)
|
rs1554528396
|
|
NM_000553.6(WRN):c.3244_3245del (p.Val1082fs)
|
rs770947623
|
|
NM_000553.6(WRN):c.3389T>C (p.Met1130Thr)
|
rs774227681
|
|
NM_000553.6(WRN):c.3688-2A>G
|
rs2130469632
|
|
NM_000553.6(WRN):c.407C>G (p.Ala136Gly)
|
|
|
NM_000553.6(WRN):c.4109del (p.Asn1370fs)
|
|
|
NM_000553.6(WRN):c.4111A>C (p.Lys1371Gln)
|
|
|
NM_000782.5(CYP24A1):c.366G>T (p.Glu122Asp)
|
|
|
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del)
|
rs777676129
|
|
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp)
|
rs35873579
|
|
NM_000782.5(CYP24A1):c.685A>T (p.Lys229Ter)
|
rs2146489987
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs)
|
rs1163340926
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_001009994.3(RIPPLY2):c.40G>A (p.Ala14Thr)
|
|
|
NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu)
|
rs200219135
|
|
NM_001013838.3(CARMIL2):c.1753_1754del (p.Gln585fs)
|
|
|
NM_001013838.3(CARMIL2):c.323C>G (p.Ala108Gly)
|
|
|
NM_001013838.3(CARMIL2):c.3444TGG[1] (p.Gly1150del)
|
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_001031679.3(MSRB3):c.-147T>G
|
rs949229098
|
|
NM_001034852.3(SMOC1):c.482C>A (p.Ser161Ter)
|
rs1344296865
|
|
NM_001038603.3(MARVELD2):c.1554+286T>C
|
|
|
NM_001039141.3(TRIOBP):c.2293C>A (p.Gln765Lys)
|
|
|
NM_001039141.3(TRIOBP):c.2516C>G (p.Thr839Ser)
|
|
|
NM_001039141.3(TRIOBP):c.2695C>G (p.Arg899Gly)
|
|
|
NM_001039141.3(TRIOBP):c.4280G>A (p.Trp1427Ter)
|
rs1329127252
|
|
NM_001039141.3(TRIOBP):c.4538C>T (p.Thr1513Met)
|
|
|
NM_001039141.3(TRIOBP):c.5519G>T (p.Arg1840Leu)
|
|
|
NM_001039141.3(TRIOBP):c.706C>T (p.His236Tyr)
|
|
|
NM_001039876.3(SYNE4):c.458G>A (p.Arg153His)
|
|
|
NM_001039958.2(MESP2):c.220G>A (p.Ala74Thr)
|
|
|
NM_001040616.3(LINS1):c.1222+2T>C
|
|
|
NM_001040616.3(LINS1):c.2090T>G (p.Val697Gly)
|
|
|
NM_001040616.3(LINS1):c.332A>C (p.His111Pro)
|
|
|
NM_001040616.3(LINS1):c.562A>G (p.Ile188Val)
|
|
|
NM_001042472.3(ABHD12):c.1015C>T (p.Gln339Ter)
|
rs868586681
|
|
NM_001042472.3(ABHD12):c.620G>T (p.Gly207Val)
|
rs2145936237
|
|
NM_001042517.2(DIAPH3):c.3142C>T (p.Arg1048Cys)
|
|
|
NM_001042517.2(DIAPH3):c.3365A>G (p.Asn1122Ser)
|
|
|
NM_001042517.2(DIAPH3):c.598C>T (p.Arg200Ter)
|
rs781626494
|
|
NM_001042545.2(LTBP4):c.1183G>T (p.Gly395Cys)
|
|
|
NM_001042545.2(LTBP4):c.565del (p.Glu189fs)
|
rs2146020978
|
|
NM_001042545.2(LTBP4):c.637T>C (p.Tyr213His)
|
|
|
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)
|
rs1574587553
|
|
NM_001044385.3(TMEM237):c.889T>C (p.Ser297Pro)
|
|
|
NM_001048166.1(STIL):c.1011A>C (p.Leu337Phe)
|
|
|
NM_001048166.1(STIL):c.2018GTT[1] (p.Cys674del)
|
rs587784448
|
|
NM_001048166.1(STIL):c.3538_3541del (p.Asn1180fs)
|
|
|
NM_001048166.1(STIL):c.3552_3553del (p.Cys1184_Glu1185delinsTer)
|
|
|
NM_001048166.1(STIL):c.417A>G (p.Ile139Met)
|
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1264A>G (p.Lys422Glu)
|
rs1644794654
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)
|
rs1645371113
|
|
NM_001048174.2(MUTYH):c.200C>A (p.Ala67Asp)
|
rs1645363196
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
|
NM_001048174.2(MUTYH):c.305-1G>A
|
rs372267274
|
|
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)
|
rs876660190
|
|
NM_001048174.2(MUTYH):c.378+1G>T
|
rs1645259682
|
|
NM_001048174.2(MUTYH):c.383G>T (p.Trp128Leu)
|
rs762307622
|
|
NM_001080510.5(METTL23):c.126del (p.Lys42fs)
|
rs2143866789
|
|
NM_001080510.5(METTL23):c.169_172del (p.His57fs)
|
rs587777644
|
|
NM_001083961.2(WDR62):c.1024G>A (p.Ala342Thr)
|
|
|
NM_001083961.2(WDR62):c.1234-1G>A
|
rs2145706114
|
|
NM_001083961.2(WDR62):c.1892T>C (p.Leu631Ser)
|
|
|
NM_001083961.2(WDR62):c.1906A>C (p.Ile636Leu)
|
|
|
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del)
|
rs764610550
|
|
NM_001083961.2(WDR62):c.198_201dup (p.Ile68fs)
|
rs2145516989
|
|
NM_001083961.2(WDR62):c.2284C>T (p.Arg762Trp)
|
|
|
NM_001083961.2(WDR62):c.2418T>G (p.Cys806Trp)
|
|
|
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs)
|
rs764201220
|
|
NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter)
|
|
|
NM_001083961.2(WDR62):c.3711_3714del (p.Ser1237fs)
|
|
|
NM_001083961.2(WDR62):c.423T>C (p.Asp141=)
|
rs1174425209
|
|
NM_001083961.2(WDR62):c.460C>T (p.His154Tyr)
|
|
|
NM_001083961.2(WDR62):c.571G>A (p.Val191Ile)
|
|
|
NM_001083961.2(WDR62):c.66G>A (p.Met22Ile)
|
|
|
NM_001099287.2(NIPAL4):c.421del (p.Leu140_Ile141insTer)
|
|
|
NM_001127453.2(GSDME):c.1441C>A (p.Leu481Ile)
|
|
|
NM_001127453.2(GSDME):c.212-1G>A
|
rs1790597003
|
|
NM_001127453.2(GSDME):c.725G>A (p.Gly242Asp)
|
|
|
NM_001127453.2(GSDME):c.991-21TTC[2]
|
rs727505273
|
|
NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter)
|
rs2112457636
|
|
NM_001127671.2(LIFR):c.2034del (p.Ser679fs)
|
|
|
NM_001127671.2(LIFR):c.210del (p.Ser71fs)
|
rs2112564371
|
|
NM_001127671.2(LIFR):c.23del (p.Cys7_Leu8insTer)
|
rs773896661
|
|
NM_001127671.2(LIFR):c.2472_2476del (p.Ser824fs)
|
|
|
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs)
|
rs387906221
|
|
NM_001129.5(AEBP1):c.194G>A (p.Arg65Gln)
|
|
|
NM_001129.5(AEBP1):c.2117A>T (p.Asn706Ile)
|
|
|
NM_001129.5(AEBP1):c.821del (p.Pro274fs)
|
|
|
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)
|
rs2128081591
|
|
NM_001134831.2(AHI1):c.1094dup (p.Met365fs)
|
rs2128081478
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer)
|
rs2128071123
|
|
NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr)
|
|
|
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs)
|
rs1463748841
|
|
NM_001136035.4(TRMT1):c.1054G>A (p.Gly352Arg)
|
|
|
NM_001136035.4(TRMT1):c.583C>T (p.Arg195Trp)
|
rs1006351159
|
|
NM_001142633.3(PIK3R5):c.2338GTG[1] (p.Val781del)
|
|
|
NM_001142633.3(PIK3R5):c.2354A>G (p.Asn785Ser)
|
|
|
NM_001142633.3(PIK3R5):c.2555C>T (p.Thr852Met)
|
|
|
NM_001160372.4(TRAPPC9):c.1234G>T (p.Ala412Ser)
|
|
|
NM_001160372.4(TRAPPC9):c.124A>G (p.Ser42Gly)
|
|
|
NM_001160372.4(TRAPPC9):c.2067A>T (p.Glu689Asp)
|
|
|
NM_001160372.4(TRAPPC9):c.269A>G (p.Lys90Arg)
|
rs550423753
|
|
NM_001160372.4(TRAPPC9):c.2761A>C (p.Ser921Arg)
|
|
|
NM_001161403.3(LIMS2):c.1025_*22del (p.Ter342Xaa)
|
|
|
NM_001161403.3(LIMS2):c.107A>G (p.Tyr36Cys)
|
|
|
NM_001161403.3(LIMS2):c.11+1287G>T
|
|
|
NM_001161403.3(LIMS2):c.11+1291C>G
|
|
|
NM_001161403.3(LIMS2):c.11+1332_11+1333dup
|
rs140836565
|
|
NM_001161403.3(LIMS2):c.143G>A (p.Arg48Gln)
|
|
|
NM_001161403.3(LIMS2):c.155A>G (p.Glu52Gly)
|
|
|
NM_001161403.3(LIMS2):c.158G>A (p.Gly53Glu)
|
|
|
NM_001161403.3(LIMS2):c.182G>A (p.Arg61Gln)
|
|
|
NM_001161403.3(LIMS2):c.345GAA[1] (p.Lys116del)
|
rs762526323
|
|
NM_001161403.3(LIMS2):c.386G>A (p.Arg129His)
|
|
|
NM_001161403.3(LIMS2):c.386G>T (p.Arg129Leu)
|
|
|
NM_001161403.3(LIMS2):c.40G>A (p.Val14Met)
|
|
|
NM_001161403.3(LIMS2):c.458T>C (p.Met153Thr)
|
|
|
NM_001161403.3(LIMS2):c.566G>A (p.Cys189Tyr)
|
|
|
NM_001161403.3(LIMS2):c.583G>A (p.Val195Ile)
|
|
|
NM_001161403.3(LIMS2):c.584T>C (p.Val195Ala)
|
|
|
NM_001161403.3(LIMS2):c.623G>A (p.Arg208Gln)
|
|
|
NM_001161403.3(LIMS2):c.634G>A (p.Ala212Thr)
|
|
|
NM_001161403.3(LIMS2):c.661-2A>C
|
rs766965539
|
|
NM_001161403.3(LIMS2):c.665_666del (p.Phe222fs)
|
rs750940675
|
|
NM_001161403.3(LIMS2):c.669_672del (p.Cys224fs)
|
rs746910960
|
|
NM_001161403.3(LIMS2):c.703C>T (p.Arg235Trp)
|
|
|
NM_001161403.3(LIMS2):c.704G>A (p.Arg235Gln)
|
|
|
NM_001161403.3(LIMS2):c.73G>A (p.Ala25Thr)
|
rs201527546
|
|
NM_001161403.3(LIMS2):c.754-2A>G
|
|
|
NM_001161403.3(LIMS2):c.799G>A (p.Asp267Asn)
|
|
|
NM_001161403.3(LIMS2):c.809C>T (p.Ser270Leu)
|
|
|
NM_001161403.3(LIMS2):c.884A>G (p.Lys295Arg)
|
|
|
NM_001161403.3(LIMS2):c.898G>C (p.Asp300His)
|
|
|
NM_001161403.3(LIMS2):c.940C>A (p.Leu314Met)
|
rs1682159709
|
|
NM_001161403.3(LIMS2):c.958_969dup (p.Leu320_Leu323dup)
|
rs752066748
|
|
NM_001195305.3(BBIP1):c.187_188del (p.Leu63fs)
|
|
|
NM_001199563.2(BVES):c.1033G>A (p.Val345Ile)
|
|
|
NM_001199563.2(BVES):c.1073A>G (p.Gln358Arg)
|
|
|
NM_001199563.2(BVES):c.184C>G (p.Leu62Val)
|
|
|
NM_001199563.2(BVES):c.199A>G (p.Ile67Val)
|
|
|
NM_001199563.2(BVES):c.244G>A (p.Val82Ile)
|
|
|
NM_001199563.2(BVES):c.263G>A (p.Arg88Gln)
|
|
|
NM_001199563.2(BVES):c.386G>A (p.Arg129Gln)
|
|
|
NM_001199563.2(BVES):c.467A>G (p.Lys156Arg)
|
|
|
NM_001199563.2(BVES):c.471G>T (p.Lys157Asn)
|
|
|
NM_001199563.2(BVES):c.515G>A (p.Arg172His)
|
|
|
NM_001199563.2(BVES):c.551C>T (p.Ser184Phe)
|
|
|
NM_001199563.2(BVES):c.569T>C (p.Leu190Pro)
|
|
|
NM_001199563.2(BVES):c.572A>G (p.His191Arg)
|
|
|
NM_001199563.2(BVES):c.602C>T (p.Ser201Phe)
|
rs869025337
|
|
NM_001199563.2(BVES):c.64G>C (p.Glu22Gln)
|
|
|
NM_001199563.2(BVES):c.74T>C (p.Ile25Thr)
|
|
|
NM_001199563.2(BVES):c.758T>C (p.Ile253Thr)
|
|
|
NM_001199563.2(BVES):c.771C>G (p.Ile257Met)
|
|
|
NM_001199563.2(BVES):c.807A>T (p.Leu269Phe)
|
|
|
NM_001199563.2(BVES):c.841C>G (p.Leu281Val)
|
|
|
NM_001199563.2(BVES):c.876G>A (p.Met292Ile)
|
|
|
NM_001199563.2(BVES):c.931C>T (p.Arg311Trp)
|
|
|
NM_001199563.2(BVES):c.932G>A (p.Arg311Gln)
|
|
|
NM_001199563.2(BVES):c.937A>G (p.Thr313Ala)
|
|
|
NM_001199563.2(BVES):c.938C>T (p.Thr313Ile)
|
|
|
NM_001199563.2(BVES):c.938_939insT (p.Ser314fs)
|
|
|
NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)
|
|
|
NM_001199799.2(ILDR1):c.1358G>A (p.Arg453Gln)
|
|
|
NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter)
|
rs387907017
|
|
NM_001205254.2(OCLN):c.215T>G (p.Ile72Ser)
|
|
|
NM_001205254.2(OCLN):c.472A>G (p.Thr158Ala)
|
|
|
NM_001205254.2(OCLN):c.513C>A (p.Tyr171Ter)
|
rs1390469424
|
|
NM_001205254.2(OCLN):c.630_645del (p.Gln211fs)
|
|
|
NM_001205254.2(OCLN):c.811A>G (p.Met271Val)
|
|
|
NM_001205254.2(OCLN):c.944A>T (p.Tyr315Phe)
|
|
|
NM_001206999.2(CIT):c.1121C>A (p.Pro374His)
|
|
|
NM_001206999.2(CIT):c.2227C>T (p.Arg743Trp)
|
|
|
NM_001206999.2(CIT):c.4087C>T (p.Arg1363Trp)
|
|
|
NM_001206999.2(CIT):c.938A>G (p.Asn313Ser)
|
|
|
NM_001242882.2(NAXD):c.736G>A (p.Glu246Lys)
|
|
|
NM_001256317.3(TMPRSS3):c.323-6G>A
|
rs374793617
|
|
NM_001277269.2(OTOG):c.7517-5_7518dup
|
rs1295062471
|
|
NM_001292063.2(OTOG):c.1410_1411del (p.Tyr471fs)
|
rs2134009776
|
|
NM_001292063.2(OTOG):c.2119dup (p.Glu707fs)
|
rs778222536
|
|
NM_001292063.2(OTOG):c.4130G>A (p.Arg1377His)
|
|
|
NM_001292063.2(OTOG):c.4261C>T (p.Arg1421Trp)
|
|
|
NM_001292063.2(OTOG):c.4309C>T (p.Gln1437Ter)
|
rs1853463147
|
|
NM_001292063.2(OTOG):c.4380del (p.Thr1461fs)
|
rs2134088808
|
|
NM_001292063.2(OTOG):c.5281_5284dup (p.Ser1762Ter)
|
rs2134090994
|
|
NM_001292063.2(OTOG):c.6068del (p.Gly2023fs)
|
rs1416960576
|
|
NM_001304438.2(TMEM132E):c.1705G>A (p.Glu569Lys)
|
|
|
NM_001366722.1(GRIP1):c.386T>C (p.Val129Ala)
|
rs568959118
|
|
NM_001366722.1(GRIP1):c.421G>A (p.Val141Met)
|
|
|
NM_001366722.1(GRIP1):c.815G>T (p.Cys272Phe)
|
|
|
NM_001367624.2(ZNF469):c.10106G>C (p.Arg3369Pro)
|
|
|
NM_001367624.2(ZNF469):c.10373C>G (p.Ala3458Gly)
|
rs1429918039
|
|
NM_001367624.2(ZNF469):c.11714C>G (p.Pro3905Arg)
|
rs529322092
|
|
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg)
|
rs571184307
|
|
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del)
|
rs775423936
|
|
NM_001367624.2(ZNF469):c.2914G>A (p.Gly972Ser)
|
|
|
NM_001367624.2(ZNF469):c.310G>A (p.Ala104Thr)
|
|
|
NM_001367624.2(ZNF469):c.4435G>C (p.Gly1479Arg)
|
|
|
NM_001367624.2(ZNF469):c.9923C>A (p.Thr3308Asn)
|
rs1285839120
|
|
NM_001371333.1(DIABLO):c.234_235del (p.Ser79fs)
|
|
|
NM_001371333.1(DIABLO):c.605G>A (p.Arg202Gln)
|
|
|
NM_001376256.1(CRYM):c.421A>G (p.Ile141Val)
|
|
|
NM_001378454.1(ALMS1):c.10766del (p.Glu3589fs)
|
rs2104105065
|
|
NM_001378454.1(ALMS1):c.10826A>G (p.Gln3609Arg)
|
rs886056317
|
|
NM_001378454.1(ALMS1):c.10967G>A (p.Gly3656Glu)
|
|
|
NM_001378454.1(ALMS1):c.1150del (p.Arg384fs)
|
|
|
NM_001378454.1(ALMS1):c.11871_11872del (p.Gly3958fs)
|
rs2104194220
|
|
NM_001378454.1(ALMS1):c.12038G>A (p.Gly4013Asp)
|
|
|
NM_001378454.1(ALMS1):c.3712_3715del (p.Ser1238fs)
|
|
|
NM_001378454.1(ALMS1):c.4138_4141del (p.Ser1380fs)
|
|
|
NM_001378454.1(ALMS1):c.4175A>G (p.Tyr1392Cys)
|
|
|
NM_001378454.1(ALMS1):c.5912C>A (p.Ser1971Tyr)
|
|
|
NM_001378454.1(ALMS1):c.9245del (p.Glu3082fs)
|
|
|
NM_001378454.1(ALMS1):c.9748_9749insCTC (p.Val3250delinsAlaLeu)
|
|
|
NM_001378609.3(OTOGL):c.1694A>G (p.Gln565Arg)
|
|
|
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val)
|
rs1277996676
|
|
NM_001378609.3(OTOGL):c.5211C>A (p.Cys1737Ter)
|
rs2137943672
|
|
NM_001378609.3(OTOGL):c.6064G>T (p.Glu2022Ter)
|
rs2138034575
|
|
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
|
|
|
NM_001378609.3(OTOGL):c.6235T>C (p.Cys2079Arg)
|
|
|
NM_001379286.1(ZNF423):c.1688C>T (p.Pro563Leu)
|
|
|
NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=)
|
|
|
NM_001379286.1(ZNF423):c.376A>G (p.Met126Val)
|
rs150427822
|
|
NM_001379286.1(ZNF423):c.3812A>G (p.Gln1271Arg)
|
rs2151705854
|
|
NM_001382391.1(CSPP1):c.-128C>T
|
rs775895663
|
|
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter)
|
rs1821344202
|
|
NM_001382391.1(CSPP1):c.2538+1G>T
|
rs2129560295
|
|
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs)
|
rs2129561783
|
|
NM_001382391.1(CSPP1):c.3330+2T>C
|
|
|
NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp)
|
|
|
NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter)
|
rs777587826
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
NM_001384474.1(LOXHD1):c.182C>T (p.Ala61Val)
|
|
|
NM_001384474.1(LOXHD1):c.2219C>T (p.Thr740Ile)
|
|
|
NM_001384474.1(LOXHD1):c.2598+1G>A
|
|
|
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs)
|
rs2143824066
|
|
NM_001384474.1(LOXHD1):c.5003G>A (p.Arg1668Gln)
|
|
|
NM_001384474.1(LOXHD1):c.5985C>G (p.Asp1995Glu)
|
|
|
NM_001384474.1(LOXHD1):c.6743C>T (p.Thr2248Ile)
|
rs779935366
|
|
NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter)
|
rs777548973
|
|
NM_001386140.1(MTTP):c.501+1G>A
|
rs2110217173
|
|
NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)
|
|
|
NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs)
|
rs797044907
|
|
NM_001393500.2(TOMT):c.80T>C (p.Leu27Pro)
|
|
|
NM_001543.5(NDST1):c.2063G>A (p.Arg688Gln)
|
|
|
NM_001543.5(NDST1):c.2272G>A (p.Ala758Thr)
|
|
|
NM_001543.5(NDST1):c.2623C>T (p.Arg875Ter)
|
|
|
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg)
|
rs781838938
|
|
NM_001692.4(ATP6V1B1):c.1102G>A (p.Glu368Lys)
|
|
|
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs)
|
rs781969081
|
|
NM_001692.4(ATP6V1B1):c.174+415G>A
|
|
|
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)
|
rs121964880
|
|
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs)
|
rs1679840658
|
|
NM_001813.3(CENPE):c.3494A>G (p.Asn1165Ser)
|
|
|
NM_002160.4(TNC):c.1004G>C (p.Gly335Ala)
|
|
|
NM_002160.4(TNC):c.1622G>A (p.Arg541His)
|
|
|
NM_002160.4(TNC):c.5692G>A (p.Val1898Ile)
|
|
|
NM_002160.4(TNC):c.6527A>G (p.Glu2176Gly)
|
|
|
NM_002161.6(IARS1):c.3005A>G (p.Asn1002Ser)
|
|
|
NM_002454.3(MTRR):c.1676+2T>C
|
|
|
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
|
|
|
NM_002454.3(MTRR):c.903+1G>A
|
|
|
NM_002454.3(MTRR):c.916del (p.Ser306fs)
|
rs1212701617
|
|
NM_002635.4(SLC25A3):c.544A>G (p.Met182Val)
|
|
|
NM_002801.4(PSMB10):c.629G>A (p.Gly210Asp)
|
|
|
NM_002801.4(PSMB10):c.736G>A (p.Gly246Arg)
|
|
|
NM_002857.4(PEX19):c.180+1G>T
|
rs1320716582
|
|
NM_002857.4(PEX19):c.212T>G (p.Phe71Cys)
|
|
|
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)
|
|
|
NM_002857.4(PEX19):c.419C>T (p.Ala140Val)
|
|
|
NM_002906.4(RDX):c.1141C>T (p.Arg381Ter)
|
rs1308348441
|
|
NM_003047.5(SLC9A1):c.644G>A (p.Gly215Asp)
|
|
|
NM_003104.6(SORD):c.287C>T (p.Pro96Leu)
|
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003292.3(TPR):c.*1130G>C
|
rs1657377652
|
|
NM_003383.5(VLDLR):c.1213A>C (p.Ile405Leu)
|
|
|
NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter)
|
rs2130810631
|
|
NM_003383.5(VLDLR):c.2582C>G (p.Pro861Arg)
|
|
|
NM_003383.5(VLDLR):c.311G>T (p.Ser104Ile)
|
|
|
NM_003383.5(VLDLR):c.449-112G>A
|
|
|
NM_003383.5(VLDLR):c.772T>C (p.Cys258Arg)
|
|
|
NM_003573.2(LTBP4):c.239A>G (p.Glu80Gly)
|
|
|
NM_003619.4(PRSS12):c.1402C>T (p.Arg468Ter)
|
|
|
NM_003619.4(PRSS12):c.1918G>C (p.Gly640Arg)
|
|
|
NM_003619.4(PRSS12):c.2268_2274delinsAC (p.Arg757fs)
|
|
|
NM_003701.4(TNFSF11):c.2T>C (p.Met1Thr)
|
|
|
NM_003801.4(GPAA1):c.1A>C (p.Met1Leu)
|
|
|
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser)
|
rs367638648
|
|
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs)
|
rs754643632
|
|
NM_003896.4(ST3GAL5):c.651TGT[1] (p.Val219del)
|
|
|
NM_003896.4(ST3GAL5):c.850-1G>A
|
rs2103936382
|
|
NM_004153.4(ORC1):c.403-2A>C
|
rs2147941262
|
|
NM_004407.4(DMP1):c.332A>G (p.Asp111Gly)
|
|
|
NM_004525.3(LRP2):c.10169+6T>C
|
|
|
NM_004525.3(LRP2):c.11868del (p.Trp3956fs)
|
|
|
NM_004525.3(LRP2):c.12757G>C (p.Val4253Leu)
|
|
|
NM_004525.3(LRP2):c.13880C>T (p.Ser4627Leu)
|
rs191145030
|
|
NM_004525.3(LRP2):c.3509G>A (p.Gly1170Asp)
|
|
|
NM_004525.3(LRP2):c.4844T>G (p.Met1615Arg)
|
|
|
NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile)
|
rs1225963332
|
|
NM_004700.4(KCNQ4):c.1859T>A (p.Val620Asp)
|
|
|
NM_004700.4(KCNQ4):c.364C>T (p.Gln122Ter)
|
|
|
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
|
|
|
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
|
|
|
NM_004836.7(EIF2AK3):c.3293C>A (p.Ser1098Ter)
|
|
|
NM_005807.6(PRG4):c.1935del (p.Glu646fs)
|
rs2102025845
|
|
NM_005807.6(PRG4):c.308T>C (p.Phe103Ser)
|
|
|
NM_005807.6(PRG4):c.3486dup (p.Val1163fs)
|
rs2102031816
|
|
NM_005876.5(SPEG):c.1114C>G (p.Arg372Gly)
|
|
|
NM_005876.5(SPEG):c.1625C>A (p.Pro542His)
|
rs927960851
|
|
NM_005876.5(SPEG):c.2372G>A (p.Ser791Asn)
|
|
|
NM_005876.5(SPEG):c.257C>G (p.Pro86Arg)
|
|
|
NM_005876.5(SPEG):c.3074A>G (p.Lys1025Arg)
|
|
|
NM_005876.5(SPEG):c.340C>T (p.Arg114Trp)
|
rs570323054
|
|
NM_005876.5(SPEG):c.4117C>G (p.Pro1373Ala)
|
rs200713879
|
|
NM_005876.5(SPEG):c.4362G>T (p.Val1454=)
|
|
|
NM_005876.5(SPEG):c.4377G>A (p.Met1459Ile)
|
|
|
NM_005876.5(SPEG):c.4660G>A (p.Val1554Ile)
|
|
|
NM_005876.5(SPEG):c.5707C>T (p.Arg1903Trp)
|
|
|
NM_005876.5(SPEG):c.6415C>G (p.Arg2139Gly)
|
|
|
NM_005876.5(SPEG):c.6422G>C (p.Arg2141Pro)
|
|
|
NM_005876.5(SPEG):c.6697C>A (p.Gln2233Lys)
|
rs587777672
|
|
NM_005876.5(SPEG):c.6739_6740delinsTT (p.Gln2247Leu)
|
rs2125558050
|
|
NM_005876.5(SPEG):c.7262_7280dup (p.Ala2428fs)
|
|
|
NM_005876.5(SPEG):c.7447C>T (p.Arg2483Cys)
|
|
|
NM_005876.5(SPEG):c.7847_7849del (p.Ser2616del)
|
|
|
NM_005876.5(SPEG):c.7940C>A (p.Ala2647Glu)
|
|
|
NM_005876.5(SPEG):c.8009G>A (p.Cys2670Tyr)
|
|
|
NM_005876.5(SPEG):c.8047C>T (p.Pro2683Ser)
|
|
|
NM_005876.5(SPEG):c.851C>T (p.Pro284Leu)
|
|
|
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs)
|
rs1575201712
|
|
NM_005876.5(SPEG):c.9346A>G (p.Arg3116Gly)
|
|
|
NM_005879.3(TRAIP):c.868C>A (p.Arg290Ser)
|
|
|
NM_005879.3(TRAIP):c.989C>T (p.Ser330Phe)
|
|
|
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)
|
|
|
NM_006019.4(TCIRG1):c.376C>T (p.Gln126Ter)
|
rs903939170
|
|
NM_006019.4(TCIRG1):c.961G>A (p.Glu321Lys)
|
|
|
NM_006118.4(HAX1):c.125dup (p.Ser43fs)
|
rs745666437
|
|
NM_006118.4(HAX1):c.430dup (p.Val144fs)
|
rs770288337
|
|
NM_006297.3(XRCC1):c.352C>T (p.Arg118Trp)
|
|
|
NM_006297.3(XRCC1):c.89dup (p.Tyr30Ter)
|
|
|
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)
|
rs80358266
|
|
NM_006432.5(NPC2):c.363+1G>A
|
|
|
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
|
rs80358260
|
|
NM_006618.5(KDM5B):c.1541G>A (p.Gly514Asp)
|
|
|
NM_006618.5(KDM5B):c.2373C>G (p.Phe791Leu)
|
|
|
NM_006618.5(KDM5B):c.2524C>T (p.Leu842Phe)
|
|
|
NM_006618.5(KDM5B):c.2986G>T (p.Glu996Ter)
|
|
|
NM_006618.5(KDM5B):c.3224del (p.Asn1075fs)
|
|
|
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)
|
|
|
NM_006618.5(KDM5B):c.418G>T (p.Glu140Ter)
|
|
|
NM_006618.5(KDM5B):c.4397A>G (p.His1466Arg)
|
|
|
NM_006618.5(KDM5B):c.602C>T (p.Thr201Ile)
|
|
|
NM_006736.6(DNAJB2):c.65+5G>T
|
|
|
NM_006765.4(TUSC3):c.221G>A (p.Arg74Gln)
|
|
|
NM_006846.4(SPINK5):c.2042G>A (p.Arg681Lys)
|
|
|
NM_006846.4(SPINK5):c.209+1G>A
|
rs1752708600
|
|
NM_006895.3(HNMT):c.534C>T (p.Gly178=)
|
|
|
NM_006996.3(SLC19A2):c.1312C>T (p.Leu438Phe)
|
|
|
NM_007259.5(VPS45):c.1129C>A (p.Pro377Thr)
|
|
|
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn)
|
rs879255237
|
|
NM_012188.5(FOXI1):c.80A>C (p.Glu27Ala)
|
|
|
NM_013335.4(GMPPA):c.382G>T (p.Glu128Ter)
|
rs2125629897
|
|
NM_013335.4(GMPPA):c.400C>T (p.Arg134Cys)
|
|
|
NM_013335.4(GMPPA):c.905G>A (p.Gly302Asp)
|
|
|
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs)
|
rs794727287
|
|
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)
|
|
|
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
|
|
|
NM_014363.6(SACS):c.11066C>T (p.Pro3689Leu)
|
|
|
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala)
|
rs1593122374
|
|
NM_014363.6(SACS):c.11679_11681delinsTAG (p.Lys3894Arg)
|
|
|
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg)
|
rs764554878
|
|
NM_014363.6(SACS):c.11826G>T (p.Met3942Ile)
|
|
|
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
|
|
|
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)
|
rs1057517123
|
|
NM_014363.6(SACS):c.1990C>T (p.Leu664Phe)
|
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.2870del (p.Pro957fs)
|
rs1057516624
|
|
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)
|
rs1259615333
|
|
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter)
|
rs1246013998
|
|
NM_014363.6(SACS):c.4018T>C (p.Tyr1340His)
|
|
|
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter)
|
rs1057516779
|
|
NM_014363.6(SACS):c.4106A>G (p.Asn1369Ser)
|
|
|
NM_014363.6(SACS):c.470A>G (p.Tyr157Cys)
|
|
|
NM_014363.6(SACS):c.4730dup (p.Met1578fs)
|
|
|
NM_014363.6(SACS):c.5692G>T (p.Glu1898Ter)
|
rs2137616679
|
|
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs)
|
rs2137615500
|
|
NM_014363.6(SACS):c.6767_6794del (p.Leu2256fs)
|
rs2137606577
|
|
NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter)
|
rs1555251553
|
|
NM_014363.6(SACS):c.7222G>A (p.Asp2408Asn)
|
|
|
NM_014363.6(SACS):c.8647G>A (p.Val2883Met)
|
|
|
NM_014363.6(SACS):c.9108A>C (p.Gln3036His)
|
|
|
NM_014363.6(SACS):c.9659_9660del (p.Ser3220fs)
|
rs2137582027
|
|
NM_014415.4(ZBTB11):c.1999C>T (p.Arg667Ter)
|
|
|
NM_014425.5(INVS):c.2002G>A (p.Gly668Arg)
|
rs764384987
|
|
NM_014425.5(INVS):c.2371C>T (p.Gln791Ter)
|
|
|
NM_014425.5(INVS):c.2935G>A (p.Val979Ile)
|
|
|
NM_014425.5(INVS):c.3182dup (p.Asn1061fs)
|
rs760013326
|
|
NM_014687.4(RUBCN):c.1474-5G>T
|
|
|
NM_014687.4(RUBCN):c.2284G>T (p.Val762Phe)
|
|
|
NM_014780.5(CUL7):c.1569+76G>C
|
|
|
NM_014780.5(CUL7):c.167G>T (p.Gly56Val)
|
|
|
NM_014780.5(CUL7):c.5029_5030del (p.Gln1677fs)
|
|
|
NM_014797.3(ZBTB24):c.452C>G (p.Ser151Cys)
|
|
|
NM_014806.5(RUSC2):c.1538C>T (p.Ser513Leu)
|
|
|
NM_014918.5(CHSY1):c.1472A>G (p.Gln491Arg)
|
|
|
NM_014918.5(CHSY1):c.151G>A (p.Gly51Arg)
|
|
|
NM_014956.5(CEP164):c.3373C>T (p.Arg1125Trp)
|
|
|
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)
|
rs143659874
|
|
NM_015028.4(TNIK):c.1633C>T (p.Arg545Trp)
|
|
|
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)
|
|
|
NM_015160.3(PMPCA):c.71+3G>A
|
|
|
NM_015189.3(EXOC6B):c.925G>T (p.Glu309Ter)
|
|
|
NM_015261.3(NCAPD3):c.2816A>G (p.Lys939Arg)
|
|
|
NM_015261.3(NCAPD3):c.3197_3198del (p.Asn1065_Tyr1066insTer)
|
|
|
NM_015275.3(WASHC4):c.1643A>G (p.Asn548Ser)
|
|
|
NM_015275.3(WASHC4):c.3420G>A (p.Ala1140=)
|
|
|
NM_015294.6(TRIM37):c.1020-10dup
|
|
|
NM_015294.6(TRIM37):c.1048C>T (p.Gln350Ter)
|
|
|
NM_015294.6(TRIM37):c.2002G>A (p.Val668Met)
|
|
|
NM_015294.6(TRIM37):c.447del (p.Lys149fs)
|
rs1197523487
|
|
NM_015311.3(OBSL1):c.1359dup (p.Glu454fs)
|
|
|
NM_015311.3(OBSL1):c.3892G>A (p.Gly1298Ser)
|
|
|
NM_015311.3(OBSL1):c.4085del (p.Leu1362fs)
|
rs2106028466
|
|
NM_015378.4(VPS13D):c.5087dup (p.Pro1697fs)
|
|
|
NM_015378.4(VPS13D):c.5455G>A (p.Val1819Met)
|
|
|
NM_015378.4(VPS13D):c.602C>G (p.Ala201Gly)
|
|
|
NM_015602.4(TOR1AIP1):c.1133dup (p.Tyr379fs)
|
|
|
NM_015602.4(TOR1AIP1):c.1199G>A (p.Ser400Asn)
|
|
|
NM_015602.4(TOR1AIP1):c.11A>G (p.Asp4Gly)
|
|
|
NM_015602.4(TOR1AIP1):c.1211G>A (p.Arg404Gln)
|
|
|
NM_015602.4(TOR1AIP1):c.1419G>T (p.Gln473His)
|
|
|
NM_015602.4(TOR1AIP1):c.1609A>G (p.Lys537Glu)
|
rs1558048637
|
|
NM_015602.4(TOR1AIP1):c.326G>A (p.Arg109Lys)
|
|
|
NM_015602.4(TOR1AIP1):c.351G>C (p.Gln117His)
|
|
|
NM_015602.4(TOR1AIP1):c.507C>A (p.Ser169Arg)
|
|
|
NM_015602.4(TOR1AIP1):c.65G>A (p.Arg22Lys)
|
|
|
NM_015602.4(TOR1AIP1):c.666A>T (p.Glu222Asp)
|
|
|
NM_015602.4(TOR1AIP1):c.7G>A (p.Gly3Ser)
|
|
|
NM_015650.4(TRAF3IP1):c.812G>A (p.Arg271Gln)
|
|
|
NM_015665.6(AAAS):c.762del (p.Ser255fs)
|
rs746057093
|
|
NM_015665.6(AAAS):c.781_782del (p.Ala262fs)
|
rs2121089586
|
|
NM_015665.6(AAAS):c.852G>A (p.Trp284Ter)
|
rs1944347921
|
|
NM_015665.6(AAAS):c.899G>T (p.Ser300Ile)
|
|
|
NM_015665.6(AAAS):c.901A>T (p.Lys301Ter)
|
rs774817639
|
|
NM_016038.4(SBDS):c.305_308del (p.Thr102fs)
|
rs745661722
|
|
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs)
|
rs1411636529
|
|
NM_016042.4(EXOSC3):c.209G>A (p.Gly70Asp)
|
|
|
NM_016042.4(EXOSC3):c.382dup (p.Ile128fs)
|
rs2118980242
|
|
NM_016219.5(MAN1B1):c.1327A>G (p.Ile443Val)
|
|
|
NM_016239.4(MYO15A):c.10006G>A (p.Glu3336Lys)
|
|
|
NM_016239.4(MYO15A):c.10508G>A (p.Arg3503His)
|
|
|
NM_016239.4(MYO15A):c.2766G>A (p.Val922=)
|
|
|
NM_016239.4(MYO15A):c.373_374del (p.Arg125fs)
|
rs878853239
|
|
NM_016239.4(MYO15A):c.5001del (p.Gln1669fs)
|
rs2142326062
|
|
NM_016239.4(MYO15A):c.8771G>A (p.Arg2924His)
|
|
|
NM_016366.3(CABP2):c.482del (p.Phe161fs)
|
rs368437370
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_016529.6(ATP8A2):c.-1016T>A
|
|
|
NM_016529.6(ATP8A2):c.1322dup (p.Lys442fs)
|
|
|
NM_016529.6(ATP8A2):c.1474-2del
|
rs2138177530
|
|
NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)
|
|
|
NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)
|
|
|
NM_016529.6(ATP8A2):c.2212-1G>C
|
rs2137911082
|
|
NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)
|
|
|
NM_016614.3(TDP2):c.635_636+2del
|
rs2127617300
|
|
NM_016614.3(TDP2):c.650del (p.Gly217fs)
|
rs1778000792
|
|
NM_016938.5(EFEMP2):c.215T>C (p.Ile72Thr)
|
rs1859961874
|
|
NM_016938.5(EFEMP2):c.975-5T>G
|
|
|
NM_017414.4(USP18):c.907G>A (p.Glu303Lys)
|
|
|
NM_017433.5(MYO3A):c.115T>C (p.Leu39=)
|
|
|
NM_017433.5(MYO3A):c.4587-1G>A
|
rs1311980539
|
|
NM_017721.5(CC2D1A):c.1187G>A (p.Arg396Gln)
|
|
|
NM_017721.5(CC2D1A):c.123T>A (p.Asp41Glu)
|
|
|
NM_017721.5(CC2D1A):c.1764+1G>C
|
rs2145350143
|
|
NM_017721.5(CC2D1A):c.18ACCCCCGGG[1] (p.7PPG[1])
|
rs1028125077
|
|
NM_017721.5(CC2D1A):c.2674G>A (p.Ala892Thr)
|
|
|
NM_017721.5(CC2D1A):c.2705G>A (p.Arg902Gln)
|
|
|
NM_017721.5(CC2D1A):c.602C>T (p.Pro201Leu)
|
|
|
NM_017755.6(NSUN2):c.116C>T (p.Pro39Leu)
|
|
|
NM_017755.6(NSUN2):c.1198_1201dup (p.Leu401fs)
|
|
|
NM_017755.6(NSUN2):c.1477A>C (p.Asn493His)
|
|
|
NM_017807.4(OSGEP):c.711_712del (p.Phe238fs)
|
|
|
NM_018075.5(ANO10):c.130A>G (p.Lys44Glu)
|
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018131.5(CEP55):c.22G>T (p.Asp8Tyr)
|
|
|
NM_018131.5(CEP55):c.379G>A (p.Val127Ile)
|
|
|
NM_018136.5(ASPM):c.10118G>A (p.Cys3373Tyr)
|
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.1485dup (p.Thr496fs)
|
|
|
NM_018136.5(ASPM):c.1879C>T (p.Arg627Cys)
|
|
|
NM_018136.5(ASPM):c.2389C>G (p.Arg797Gly)
|
|
|
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)
|
rs145489194
|
|
NM_018136.5(ASPM):c.2581dup (p.Ile861fs)
|
rs2125107857
|
|
NM_018136.5(ASPM):c.2583A>G (p.Ile861Met)
|
|
|
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter)
|
rs199422153
|
|
NM_018136.5(ASPM):c.3282_3285del (p.Asn1095fs)
|
rs1240081512
|
|
NM_018136.5(ASPM):c.3387A>T (p.Lys1129Asn)
|
|
|
NM_018136.5(ASPM):c.3577_3579delinsCCA (p.Ser1193Pro)
|
|
|
NM_018136.5(ASPM):c.3875G>A (p.Arg1292Lys)
|
|
|
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del)
|
rs587783241
|
|
NM_018136.5(ASPM):c.4123A>G (p.Ile1375Val)
|
|
|
NM_018136.5(ASPM):c.4190C>T (p.Thr1397Ile)
|
|
|
NM_018136.5(ASPM):c.434del (p.Lys145fs)
|
rs2125114846
|
|
NM_018136.5(ASPM):c.441+5T>G
|
|
|
NM_018136.5(ASPM):c.4451_4455del (p.Tyr1484fs)
|
rs2125096622
|
|
NM_018136.5(ASPM):c.4515del (p.Lys1505fs)
|
|
|
NM_018136.5(ASPM):c.5626G>A (p.Ala1876Thr)
|
|
|
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs)
|
rs886041282
|
|
NM_018136.5(ASPM):c.6351C>T (p.His2117=)
|
|
|
NM_018136.5(ASPM):c.6466G>T (p.Gly2156Cys)
|
rs1267196794
|
|
NM_018136.5(ASPM):c.6548dup (p.Arg2184fs)
|
|
|
NM_018136.5(ASPM):c.6811_6812del (p.Arg2271fs)
|
|
|
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)
|
rs587783263
|
|
NM_018136.5(ASPM):c.7372A>G (p.Arg2458Gly)
|
rs560411441
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
|
|
|
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)
|
rs587783280
|
|
NM_018136.5(ASPM):c.8740A>C (p.Ile2914Leu)
|
|
|
NM_018136.5(ASPM):c.9109del (p.Gln3037fs)
|
rs2125089566
|
|
NM_018136.5(ASPM):c.9309A>T (p.Arg3103Ser)
|
|
|
NM_018136.5(ASPM):c.9592C>T (p.Arg3198Cys)
|
rs760292134
|
|
NM_018136.5(ASPM):c.9593G>A (p.Arg3198His)
|
rs145333987
|
|
NM_018136.5(ASPM):c.9695T>C (p.Ile3232Thr)
|
|
|
NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs)
|
rs199422196
|
|
NM_018136.5(ASPM):c.9874C>T (p.Gln3292Ter)
|
rs2125087894
|
|
NM_018136.5(ASPM):c.9898T>C (p.Phe3300Leu)
|
|
|
NM_018161.5(NADSYN1):c.-690G>A
|
|
|
NM_018161.5(NADSYN1):c.1189C>T (p.Gln397Ter)
|
|
|
NM_018161.5(NADSYN1):c.1621G>A (p.Gly541Arg)
|
|
|
NM_018161.5(NADSYN1):c.1787C>T (p.Ala596Val)
|
|
|
NM_018249.6(CDK5RAP2):c.1161C>G (p.Asn387Lys)
|
|
|
NM_018249.6(CDK5RAP2):c.3055G>A (p.Asp1019Asn)
|
|
|
NM_018249.6(CDK5RAP2):c.3545_3546del (p.His1182fs)
|
rs2131327802
|
|
NM_018249.6(CDK5RAP2):c.355G>T (p.Glu119Ter)
|
rs376990082
|
|
NM_018249.6(CDK5RAP2):c.3564G>A (p.Pro1188=)
|
|
|
NM_018249.6(CDK5RAP2):c.377A>G (p.Lys126Arg)
|
|
|
NM_018249.6(CDK5RAP2):c.3965T>A (p.Val1322Asp)
|
|
|
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter)
|
rs754282058
|
|
NM_018249.6(CDK5RAP2):c.4269G>C (p.Leu1423Phe)
|
|
|
NM_018249.6(CDK5RAP2):c.5075C>T (p.Thr1692Met)
|
|
|
NM_018249.6(CDK5RAP2):c.5212C>G (p.Leu1738Val)
|
|
|
NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)
|
|
|
NM_018255.4(ELP2):c.1923G>A (p.Trp641Ter)
|
|
|
NM_018255.4(ELP2):c.212A>G (p.Asp71Gly)
|
|
|
NM_018255.4(ELP2):c.445G>T (p.Val149Leu)
|
|
|
NM_018294.6(CWF19L1):c.520A>T (p.Lys174Ter)
|
rs2134307362
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_018429.3(BDP1):c.5888C>T (p.Pro1963Leu)
|
|
|
NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)
|
|
|
NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)
|
|
|
NM_018965.4(TREM2):c.203A>T (p.Asn68Ile)
|
|
|
NM_018965.4(TREM2):c.346A>T (p.Ser116Cys)
|
rs2113879950
|
|
NM_020066.5(FMN2):c.1054G>T (p.Asp352Tyr)
|
|
|
NM_020066.5(FMN2):c.1861C>T (p.Arg621Ter)
|
rs1426355851
|
|
NM_020066.5(FMN2):c.2806C>G (p.Pro936Ala)
|
|
|
NM_020066.5(FMN2):c.3230C>T (p.Pro1077Leu)
|
|
|
NM_020066.5(FMN2):c.4468G>T (p.Val1490Phe)
|
|
|
NM_020066.5(FMN2):c.4666C>G (p.Leu1556Val)
|
|
|
NM_020066.5(FMN2):c.874C>T (p.Gln292Ter)
|
|
|
NM_020232.5(PSMG2):c.377C>G (p.Ser126Ter)
|
|
|
NM_020247.5(COQ8A):c.1334_1335del (p.Thr445fs)
|
rs797045217
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser)
|
rs778948697
|
|
NM_020247.5(COQ8A):c.32del (p.Val11fs)
|
|
|
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)
|
|
|
NM_020247.5(COQ8A):c.902G>A (p.Arg301Gln)
|
|
|
NM_020374.4(FERRY3):c.766T>C (p.Ser256Pro)
|
|
|
NM_020632.3(ATP6V0A4):c.1528C>A (p.Pro510Thr)
|
|
|
NM_020632.3(ATP6V0A4):c.1872C>A (p.Tyr624Ter)
|
rs1464966535
|
|
NM_020632.3(ATP6V0A4):c.1999C>T (p.Arg667Trp)
|
|
|
NM_020632.3(ATP6V0A4):c.2228G>T (p.Arg743Leu)
|
|
|
NM_020632.3(ATP6V0A4):c.292-1G>A
|
rs776867749
|
|
NM_020680.4(SCYL1):c.1386+1G>T
|
rs201581270
|
|
NM_020921.4(NIN):c.5781_5784del (p.Ser1927fs)
|
|
|
NM_020921.4(NIN):c.5830G>A (p.Glu1944Lys)
|
|
|
NM_020964.3(EPG5):c.1694C>G (p.Thr565Ser)
|
|
|
NM_020964.3(EPG5):c.2479A>G (p.Ile827Val)
|
|
|
NM_020964.3(EPG5):c.3332T>C (p.Leu1111Pro)
|
rs2050036468
|
|
NM_020964.3(EPG5):c.3477G>A (p.Trp1159Ter)
|
rs2145713137
|
|
NM_020964.3(EPG5):c.4816G>A (p.Gly1606Ser)
|
|
|
NM_020964.3(EPG5):c.5304+1G>A
|
|
|
NM_020964.3(EPG5):c.5404_5405delinsTT (p.Glu1802Leu)
|
|
|
NM_020964.3(EPG5):c.5623G>T (p.Ala1875Ser)
|
|
|
NM_020964.3(EPG5):c.5840_5845del (p.Ala1947_Gln1948del)
|
|
|
NM_020964.3(EPG5):c.5943-9_5943-5del
|
rs773330060
|
|
NM_021252.5(RAB18):c.103C>T (p.Pro35Ser)
|
|
|
NM_021252.5(RAB18):c.199C>G (p.Gln67Glu)
|
|
|
NM_021628.3(ALOXE3):c.1432del (p.Ser478fs)
|
rs2151838171
|
|
NM_021628.3(ALOXE3):c.1525C>T (p.Arg509Ter)
|
rs754701941
|
|
NM_021628.3(ALOXE3):c.352+1G>T
|
|
|
NM_021828.5(HPSE2):c.902T>A (p.Leu301Ter)
|
rs2134250333
|
|
NM_021942.6(TRAPPC11):c.1079G>A (p.Arg360Gln)
|
|
|
NM_021942.6(TRAPPC11):c.1081A>C (p.Lys361Gln)
|
|
|
NM_021942.6(TRAPPC11):c.1113+2T>G
|
rs2111348918
|
|
NM_021942.6(TRAPPC11):c.1170C>G (p.Asp390Glu)
|
rs1328121937
|
|
NM_021942.6(TRAPPC11):c.1322C>T (p.Ala441Val)
|
|
|
NM_021942.6(TRAPPC11):c.1353G>T (p.Met451Ile)
|
|
|
NM_021942.6(TRAPPC11):c.1366+1G>A
|
|
|
NM_021942.6(TRAPPC11):c.1451G>A (p.Arg484Gln)
|
|
|
NM_021942.6(TRAPPC11):c.1493C>G (p.Thr498Arg)
|
|
|
NM_021942.6(TRAPPC11):c.1681G>T (p.Ala561Ser)
|
|
|
NM_021942.6(TRAPPC11):c.16T>C (p.Trp6Arg)
|
rs981293069
|
|
NM_021942.6(TRAPPC11):c.1724A>G (p.Asn575Ser)
|
|
|
NM_021942.6(TRAPPC11):c.1893+3A>G
|
rs886041053
|
|
NM_021942.6(TRAPPC11):c.190A>G (p.Lys64Glu)
|
rs1734713616
|
|
NM_021942.6(TRAPPC11):c.2014G>C (p.Val672Leu)
|
rs1415116624
|
|
NM_021942.6(TRAPPC11):c.208A>G (p.Thr70Ala)
|
|
|
NM_021942.6(TRAPPC11):c.2112G>C (p.Gln704His)
|
|
|
NM_021942.6(TRAPPC11):c.2123G>A (p.Gly708Glu)
|
|
|
NM_021942.6(TRAPPC11):c.2170A>G (p.Lys724Glu)
|
|
|
NM_021942.6(TRAPPC11):c.2393A>G (p.Asp798Gly)
|
|
|
NM_021942.6(TRAPPC11):c.2436_2440del (p.Glu813fs)
|
rs2111068286
|
|
NM_021942.6(TRAPPC11):c.2530C>T (p.Arg844Cys)
|
rs149626892
|
|
NM_021942.6(TRAPPC11):c.2593G>A (p.Val865Ile)
|
|
|
NM_021942.6(TRAPPC11):c.2609T>C (p.Ile870Thr)
|
|
|
NM_021942.6(TRAPPC11):c.2776A>G (p.Thr926Ala)
|
rs1219763538
|
|
NM_021942.6(TRAPPC11):c.2875G>A (p.Ala959Thr)
|
|
|
NM_021942.6(TRAPPC11):c.2966C>T (p.Thr989Ile)
|
|
|
NM_021942.6(TRAPPC11):c.2989A>G (p.Ile997Val)
|
|
|
NM_021942.6(TRAPPC11):c.301T>C (p.Tyr101His)
|
|
|
NM_021942.6(TRAPPC11):c.3032A>C (p.Asn1011Thr)
|
|
|
NM_021942.6(TRAPPC11):c.3040C>T (p.Leu1014Phe)
|
rs79057512
|
|
NM_021942.6(TRAPPC11):c.3104A>T (p.His1035Leu)
|
rs762555782
|
|
NM_021942.6(TRAPPC11):c.3242A>C (p.Tyr1081Ser)
|
|
|
NM_021942.6(TRAPPC11):c.3254C>T (p.Ala1085Val)
|
|
|
NM_021942.6(TRAPPC11):c.329G>T (p.Trp110Leu)
|
|
|
NM_021942.6(TRAPPC11):c.3340A>G (p.Thr1114Ala)
|
rs866236252
|
|
NM_021942.6(TRAPPC11):c.3377A>G (p.Asp1126Gly)
|
|
|
NM_021942.6(TRAPPC11):c.533C>T (p.Thr178Ile)
|
|
|
NM_021942.6(TRAPPC11):c.728C>T (p.Ala243Val)
|
|
|
NM_021942.6(TRAPPC11):c.830A>G (p.Lys277Arg)
|
|
|
NM_021942.6(TRAPPC11):c.895A>G (p.Ile299Val)
|
|
|
NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg)
|
rs533000838
|
|
NM_021942.6(TRAPPC11):c.964C>T (p.Gln322Ter)
|
rs1483190866
|
|
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs)
|
rs753460205
|
|
NM_022095.4(ZNF335):c.3274C>T (p.Arg1092Trp)
|
|
|
NM_022095.4(ZNF335):c.3887_3888del (p.His1296fs)
|
|
|
NM_022464.5(SIL1):c.-10-18951A>G
|
|
|
NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)
|
|
|
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr)
|
rs377150029
|
|
NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)
|
|
|
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
|
|
|
NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)
|
|
|
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
|
|
|
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
|
|
|
NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)
|
|
|
NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)
|
|
|
NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)
|
|
|
NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)
|
|
|
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
|
|
|
NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)
|
|
|
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser)
|
rs398124389
|
|
NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala)
|
|
|
NM_022464.5(SIL1):c.1330G>T (p.Gly444Cys)
|
|
|
NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)
|
|
|
NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn)
|
|
|
NM_022464.5(SIL1):c.175G>A (p.Glu59Lys)
|
|
|
NM_022464.5(SIL1):c.181G>A (p.Glu61Lys)
|
|
|
NM_022464.5(SIL1):c.185T>A (p.Leu62Gln)
|
|
|
NM_022464.5(SIL1):c.193G>A (p.Glu65Lys)
|
|
|
NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)
|
|
|
NM_022464.5(SIL1):c.218C>T (p.Thr73Met)
|
|
|
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
|
|
|
NM_022464.5(SIL1):c.31A>G (p.Met11Val)
|
|
|
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
|
|
|
NM_022464.5(SIL1):c.388G>A (p.Asp130Asn)
|
|
|
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
|
|
|
NM_022464.5(SIL1):c.432G>T (p.Met144Ile)
|
|
|
NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)
|
|
|
NM_022464.5(SIL1):c.476G>A (p.Arg159Gln)
|
|
|
NM_022464.5(SIL1):c.484C>T (p.Arg162Cys)
|
|
|
NM_022464.5(SIL1):c.526G>T (p.Val176Phe)
|
|
|
NM_022464.5(SIL1):c.550A>G (p.Ile184Val)
|
|
|
NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)
|
|
|
NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys)
|
|
|
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
|
|
|
NM_022464.5(SIL1):c.653A>G (p.Asn218Ser)
|
|
|
NM_022464.5(SIL1):c.674T>C (p.Phe225Ser)
|
|
|
NM_022464.5(SIL1):c.697A>G (p.Asn233Asp)
|
|
|
NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)
|
|
|
NM_022464.5(SIL1):c.766A>G (p.Ser256Gly)
|
|
|
NM_022464.5(SIL1):c.82T>C (p.Phe28Leu)
|
|
|
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
|
|
|
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
|
|
|
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)
|
|
|
NM_022482.5(GZF1):c.224C>G (p.Thr75Ser)
|
|
|
NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter)
|
rs2076508722
|
|
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)
|
rs786205483
|
|
NM_024596.5(MCPH1):c.1244A>G (p.Tyr415Cys)
|
|
|
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
|
rs572671721
|
|
NM_024596.5(MCPH1):c.2127_2128del (p.Ser709_Tyr710insTer)
|
rs2129559817
|
|
NM_024596.5(MCPH1):c.355A>G (p.Lys119Glu)
|
|
|
NM_024596.5(MCPH1):c.566dup (p.Asn189fs)
|
rs753597039
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.47+1G>T
|
rs1475257145
|
|
NM_024649.5(BBS1):c.480-28G>C
|
|
|
NM_024685.4(BBS10):c.157_170dup (p.Leu58fs)
|
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.445dup (p.Leu149fs)
|
rs770053320
|
|
NM_024685.4(BBS10):c.930A>G (p.Ile310Met)
|
|
|
NM_024989.4(PGAP1):c.2422G>A (p.Asp808Asn)
|
|
|
NM_025009.5(CEP135):c.1824A>C (p.Lys608Asn)
|
|
|
NM_025009.5(CEP135):c.1980_1984del (p.His661fs)
|
|
|
NM_025009.5(CEP135):c.3102del (p.Glu1034fs)
|
rs1560425301
|
|
NM_025009.5(CEP135):c.3211A>T (p.Lys1071Ter)
|
|
|
NM_025074.7(FRAS1):c.1882C>A (p.Pro628Thr)
|
rs199542867
|
|
NM_025074.7(FRAS1):c.2550C>T (p.Tyr850=)
|
|
|
NM_025074.7(FRAS1):c.2692del (p.His898fs)
|
rs2110296712
|
|
NM_025074.7(FRAS1):c.2811T>A (p.Cys937Ter)
|
rs936338537
|
|
NM_025074.7(FRAS1):c.2827G>A (p.Ala943Thr)
|
|
|
NM_025074.7(FRAS1):c.382C>T (p.Gln128Ter)
|
|
|
NM_025074.7(FRAS1):c.3936C>T (p.Ser1312=)
|
|
|
NM_025074.7(FRAS1):c.3957A>G (p.Gln1319=)
|
|
|
NM_025074.7(FRAS1):c.4912C>T (p.Pro1638Ser)
|
|
|
NM_025074.7(FRAS1):c.4955G>A (p.Arg1652Lys)
|
|
|
NM_025074.7(FRAS1):c.5205C>A (p.His1735Gln)
|
rs533608491
|
|
NM_025074.7(FRAS1):c.5218-1G>T
|
|
|
NM_025074.7(FRAS1):c.5611A>G (p.Ile1871Val)
|
|
|
NM_025074.7(FRAS1):c.572C>T (p.Thr191Ile)
|
|
|
NM_025074.7(FRAS1):c.6776G>C (p.Ser2259Thr)
|
|
|
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs)
|
rs730882179
|
|
NM_025074.7(FRAS1):c.7280C>A (p.Pro2427Gln)
|
|
|
NM_025074.7(FRAS1):c.8467C>T (p.Arg2823Cys)
|
|
|
NM_025074.7(FRAS1):c.8555A>G (p.Tyr2852Cys)
|
|
|
NM_025074.7(FRAS1):c.8731A>G (p.Ile2911Val)
|
|
|
NM_025074.7(FRAS1):c.9008A>C (p.Glu3003Ala)
|
|
|
NM_025074.7(FRAS1):c.9016T>C (p.Phe3006Leu)
|
|
|
NM_025074.7(FRAS1):c.9575del (p.Pro3192fs)
|
|
|
NM_025074.7(FRAS1):c.9716A>G (p.Asn3239Ser)
|
|
|
NM_025074.7(FRAS1):c.9845A>G (p.Lys3282Arg)
|
|
|
NM_030928.4(CDT1):c.260A>G (p.Asp87Gly)
|
|
|
NM_030928.4(CDT1):c.802C>T (p.Gln268Ter)
|
rs776483689
|
|
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup)
|
rs1428691401
|
|
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs)
|
rs2139308896
|
|
NM_031466.8(TRAPPC9):c.-124dup
|
rs765943218
|
|
NM_032040.5(CCDC8):c.917_924delinsTCCTATG (p.Glu306fs)
|
|
|
NM_032193.4(RNASEH2C):c.133G>A (p.Gly45Arg)
|
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_032193.4(RNASEH2C):c.259G>A (p.Glu87Lys)
|
|
|
NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys)
|
rs749473518
|
|
NM_032492.4(JAGN1):c.142T>C (p.Trp48Arg)
|
|
|
NM_032793.5(MFSD2A):c.446T>C (p.Leu149Pro)
|
|
|
NM_032856.5(WDR73):c.1106G>A (p.Trp369Ter)
|
|
|
NM_032856.5(WDR73):c.346G>A (p.Asp116Asn)
|
|
|
NM_032856.5(WDR73):c.41+1G>C
|
|
|
NM_032856.5(WDR73):c.643C>T (p.Arg215Cys)
|
|
|
NM_032856.5(WDR73):c.745C>T (p.Arg249Cys)
|
|
|
NM_032856.5(WDR73):c.875C>T (p.Ala292Val)
|
|
|
NM_032856.5(WDR73):c.888del (p.Phe296fs)
|
rs869320712
|
|
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3])
|
rs11267906
|
|
NM_033028.5(BBS4):c.1037-1G>A
|
|
|
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
|
|
|
NM_033028.5(BBS4):c.1205_1208del (p.Val402fs)
|
|
|
NM_033028.5(BBS4):c.1248+1G>T
|
rs1419924139
|
|
NM_033028.5(BBS4):c.1286A>G (p.Gln429Arg)
|
|
|
NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)
|
|
|
NM_033028.5(BBS4):c.1391C>G (p.Ser464Cys)
|
|
|
NM_033028.5(BBS4):c.157-2A>G
|
rs113994192
|
|
NM_033028.5(BBS4):c.470A>G (p.Gln157Arg)
|
|
|
NM_033028.5(BBS4):c.76+3del
|
|
|
NM_033028.5(BBS4):c.929del (p.Leu310fs)
|
rs889012564
|
|
NM_033064.5(ATCAY):c.-41-1022G>A
|
|
|
NM_033064.5(ATCAY):c.1043A>G (p.Glu348Gly)
|
|
|
NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)
|
|
|
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs)
|
rs1299632365
|
|
NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)
|
|
|
NM_052989.3(IFT122):c.3616A>G (p.Met1206Val)
|
|
|
NM_052989.3(IFT122):c.535A>G (p.Ile179Val)
|
|
|
NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)
|
|
|
NM_133261.3(GIPC3):c.103C>G (p.Pro35Ala)
|
|
|
NM_138387.4(G6PC3):c.218+486A>G
|
|
|
NM_138694.4(PKHD1):c.10436A>G (p.Gln3479Arg)
|
|
|
NM_138694.4(PKHD1):c.10845_10846dup (p.Ala3616fs)
|
|
|
NM_138694.4(PKHD1):c.10932G>T (p.Met3644Ile)
|
|
|
NM_138694.4(PKHD1):c.11075G>A (p.Arg3692Gln)
|
|
|
NM_138694.4(PKHD1):c.1119-2A>G
|
|
|
NM_138694.4(PKHD1):c.11347C>G (p.Pro3783Ala)
|
|
|
NM_138694.4(PKHD1):c.11770_11771dup (p.Val3925fs)
|
|
|
NM_138694.4(PKHD1):c.11840T>C (p.Met3947Thr)
|
|
|
NM_138694.4(PKHD1):c.1231A>G (p.Lys411Glu)
|
|
|
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1747T>A (p.Cys583Ser)
|
|
|
NM_138694.4(PKHD1):c.1900G>A (p.Gly634Ser)
|
|
|
NM_138694.4(PKHD1):c.2188delinsTA (p.Glu730Ter)
|
rs2128196788
|
|
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)
|
rs398124480
|
|
NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter)
|
rs773136605
|
|
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys)
|
rs2128182593
|
|
NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)
|
|
|
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
|
rs755183117
|
|
NM_138694.4(PKHD1):c.3561-1G>A
|
rs1802457333
|
|
NM_138694.4(PKHD1):c.3734C>T (p.Ala1245Val)
|
rs140815495
|
|
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)
|
rs398124486
|
|
NM_138694.4(PKHD1):c.470dup (p.Trp158fs)
|
rs2128233941
|
|
NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter)
|
rs2128141956
|
|
NM_138694.4(PKHD1):c.5151del (p.Gly1718fs)
|
|
|
NM_138694.4(PKHD1):c.528-17dup
|
rs753686281
|
|
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=)
|
rs398124489
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser)
|
rs1791737049
|
|
NM_138694.4(PKHD1):c.5977G>T (p.Gly1993Cys)
|
|
|
NM_138694.4(PKHD1):c.6311T>G (p.Leu2104Arg)
|
|
|
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA
|
rs1562581286
|
|
NM_138694.4(PKHD1):c.6952A>C (p.Thr2318Pro)
|
rs2127622153
|
|
NM_138694.4(PKHD1):c.7103G>T (p.Cys2368Phe)
|
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro)
|
|
|
NM_138694.4(PKHD1):c.7450G>T (p.Ala2484Ser)
|
|
|
NM_138694.4(PKHD1):c.7487-1G>C
|
|
|
NM_138694.4(PKHD1):c.8069G>A (p.Trp2690Ter)
|
rs768660365
|
|
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs)
|
rs2151512076
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.8932del (p.Ser2978fs)
|
|
|
NM_138694.4(PKHD1):c.925T>C (p.Cys309Arg)
|
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_138694.4(PKHD1):c.9614T>C (p.Ile3205Thr)
|
|
|
NM_138694.4(PKHD1):c.9999-1G>A
|
rs2150963039
|
|
NM_139343.3(BIN1):c.1002+2T>C
|
rs1553458019
|
|
NM_139343.3(BIN1):c.1264-11_1270del
|
rs776737413
|
|
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)
|
|
|
NM_139343.3(BIN1):c.1352C>A (p.Ala451Asp)
|
|
|
NM_139343.3(BIN1):c.1399G>A (p.Gly467Arg)
|
|
|
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)
|
|
|
NM_139343.3(BIN1):c.1620G>T (p.Gln540His)
|
|
|
NM_139343.3(BIN1):c.1778C>T (p.Pro593Leu)
|
|
|
NM_139343.3(BIN1):c.196C>T (p.Arg66Trp)
|
|
|
NM_139343.3(BIN1):c.239A>G (p.Lys80Arg)
|
|
|
NM_139343.3(BIN1):c.376A>G (p.Met126Val)
|
|
|
NM_139343.3(BIN1):c.785A>G (p.Asn262Ser)
|
|
|
NM_139343.3(BIN1):c.908C>T (p.Ser303Phe)
|
|
|
NM_144508.5(KNL1):c.1477G>A (p.Ala493Thr)
|
|
|
NM_144508.5(KNL1):c.197_197+4del
|
|
|
NM_144508.5(KNL1):c.6584A>G (p.Gln2195Arg)
|
|
|
NM_144628.4(TBC1D20):c.407G>A (p.Arg136His)
|
|
|
NM_144672.4(OTOA):c.1881-2A>G
|
rs2141716542
|
|
NM_144772.3(NAXE):c.326dup (p.Thr110fs)
|
rs779820587
|
|
NM_144772.3(NAXE):c.668G>A (p.Trp223Ter)
|
rs1205686109
|
|
NM_147196.3(TMIE):c.148G>T (p.Val50Leu)
|
rs567795032
|
|
NM_148919.4(PSMB8):c.625G>A (p.Gly209Arg)
|
rs1202502842
|
|
NM_152384.3(BBS5):c.387-3T>C
|
|
|
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)
|
rs1574339529
|
|
NM_152617.4(RNF168):c.659_662del (p.Arg220fs)
|
rs755314562
|
|
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
|
rs587777803
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152618.3(BBS12):c.1972C>T (p.Gln658Ter)
|
rs2150737953
|
|
NM_152618.3(BBS12):c.683del (p.Gln228fs)
|
rs2150736424
|
|
NM_152618.3(BBS12):c.695_731del (p.Ile232fs)
|
|
|
NM_153700.2(STRC):c.3958G>T (p.Glu1320Ter)
|
rs1410072763
|
|
NM_153700.2(STRC):c.4701+1G>A
|
rs199839039
|
|
NM_153747.2(PIGC):c.223A>G (p.Met75Val)
|
|
|
NM_153816.6(SNX14):c.44_45del (p.Arg15fs)
|
|
|
NM_173477.5(USH1G):c.711del (p.Arg238fs)
|
rs2144754031
|
|
NM_173551.5(ANKS6):c.1235G>A (p.Arg412Gln)
|
|
|
NM_173551.5(ANKS6):c.2270C>G (p.Ser757Cys)
|
|
|
NM_173685.4(NSMCE2):c.577G>A (p.Ala193Thr)
|
rs746545242
|
|
NM_176824.3(BBS7):c.500G>A (p.Cys167Tyr)
|
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_177398.4(LMX1A):c.874G>A (p.Ala292Thr)
|
|
|
NM_177400.3(NKX6-2):c.119del (p.Phe40fs)
|
rs2134707158
|
|
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter)
|
rs1131692047
|
|
NM_177400.3(NKX6-2):c.175G>T (p.Gly59Cys)
|
|
|
NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser)
|
|
|
NM_181503.3(EXOSC8):c.540_544del (p.Asn180fs)
|
|
|
NM_181741.4(ORC4):c.866G>A (p.Arg289Gln)
|
|
|
NM_182548.4(LHFPL5):c.348C>G (p.Ser116Arg)
|
|
|
NM_194248.3(OTOF):c.1538A>G (p.His513Arg)
|
|
|
NM_194248.3(OTOF):c.1962del (p.Arg656fs)
|
|
|
NM_194248.3(OTOF):c.2256G>A (p.Glu752=)
|
|
|
NM_194248.3(OTOF):c.3464G>A (p.Arg1155Gln)
|
|
|
NM_194248.3(OTOF):c.5864G>A (p.Arg1955His)
|
|
|
NM_194248.3(OTOF):c.658T>A (p.Ser220Thr)
|
|
|
NM_198428.3(BBS9):c.2527T>C (p.Cys843Arg)
|
|
|
NM_198999.3(SLC26A5):c.1936T>C (p.Phe646Leu)
|
|
|
NM_203486.3(DLL3):c.366_378del (p.Ile123fs)
|
rs2079604821
|
|
NM_203486.3(DLL3):c.395del (p.Gly132fs)
|
rs761454301
|
|
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs)
|
rs786200899
|
|