ClinVar Miner

List of variants studied for autosomal recessive disease by Revvity Omics, Revvity

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1839
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HGVS dbSNP gnomAD frequency
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

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