NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_153676.4(USH1C):c.2014-1G>A
|
rs150567427
|
0.00183
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
NM_015294.6(TRIM37):c.493-2A>G
|
rs186251998
|
0.00070
|
NM_005797.4(MPZL2):c.72del (p.Ile24fs)
|
rs752672077
|
0.00069
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_005199.5(CHRNG):c.459dup (p.Val154fs)
|
rs774279192
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)
|
rs28937590
|
0.00042
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
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_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)
|
rs121908576
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
0.00027
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)
|
rs185142838
|
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_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)
|
rs201419367
|
0.00024
|
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_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter)
|
rs370032864
|
0.00022
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
|
rs28939086
|
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_003384.3(VRK1):c.961C>T (p.Arg321Cys)
|
rs772731615
|
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_000441.2(SLC26A4):c.412G>T (p.Val138Phe)
|
rs111033199
|
0.00019
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
0.00019
|
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)
|
rs199952377
|
0.00019
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
|
rs79436363
|
0.00015
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)
|
rs1191496583
|
0.00014
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)
|
rs121918376
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)
|
rs376107921
|
0.00013
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)
|
rs201650281
|
0.00013
|
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)
|
rs386834153
|
0.00013
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)
|
rs35138315
|
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_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)
|
rs61752873
|
0.00011
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)
|
rs121908578
|
0.00011
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00011
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)
|
rs747067203
|
0.00011
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)
|
rs751084512
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)
|
rs77958223
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)
|
rs61753238
|
0.00010
|
NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)
|
rs376556895
|
0.00010
|
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)
|
rs397508276
|
0.00010
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)
|
rs371263807
|
0.00010
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000277.3(PAH):c.434A>T (p.Asp145Val)
|
rs140175796
|
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_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
|
rs774130993
|
0.00009
|
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)
|
rs121913026
|
0.00009
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)
|
rs111033302
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)
|
rs200844390
|
0.00009
|
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)
|
rs369483167
|
0.00009
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00008
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)
|
rs62653011
|
0.00008
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
|
rs62641228
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_002617.4(PEX10):c.704dup (p.Leu236fs)
|
rs61750435
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
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_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_000277.3(PAH):c.896T>G (p.Phe299Cys)
|
rs62642933
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_001017420.3(ESCO2):c.1132-7A>G
|
rs80359862
|
0.00007
|
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)
|
rs137853150
|
0.00007
|
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)
|
rs765632065
|
0.00007
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)
|
rs760222236
|
0.00007
|
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)
|
rs762991875
|
0.00006
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000124.4(ERCC6):c.2599-26A>G
|
rs4253196
|
0.00006
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)
|
rs61752123
|
0.00006
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000372.5(TYR):c.229C>T (p.Arg77Trp)
|
rs61753184
|
0.00006
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_000400.4(ERCC2):c.335G>A (p.Arg112His)
|
rs121913020
|
0.00006
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
|
rs111033308
|
0.00006
|
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)
|
rs111033316
|
0.00006
|
NM_000466.3(PEX1):c.2926+1G>A
|
rs267608179
|
0.00006
|
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)
|
rs75549581
|
0.00006
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
|
rs78194216
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000518.5(HBB):c.75T>A (p.Gly25=)
|
rs33951465
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)
|
rs727503968
|
0.00006
|
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00006
|
NM_001283009.2(RTEL1):c.3110-2A>T
|
rs377461417
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
0.00006
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)
|
rs200478425
|
0.00006
|
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)
|
rs121908073
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)
|
rs180675584
|
0.00006
|
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
|
rs200432861
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)
|
rs119466002
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
|
rs200379491
|
0.00005
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
0.00005
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
NM_000400.4(ERCC2):c.1867dup (p.Val623fs)
|
rs756630156
|
0.00005
|
NM_000441.2(SLC26A4):c.165-1G>A
|
rs759792660
|
0.00005
|
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)
|
rs1421964916
|
0.00005
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_000518.5(HBB):c.*110T>C
|
rs33978907
|
0.00005
|
NM_000518.5(HBB):c.316-197C>T
|
rs34451549
|
0.00005
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)
|
rs201454788
|
0.00005
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)
|
rs398124502
|
0.00005
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)
|
rs863224959
|
0.00004
|
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)
|
rs121917904
|
0.00004
|
NM_000231.3(SGCG):c.195+1G>C
|
rs200502077
|
0.00004
|
NM_000232.5(SGCB):c.1_2del (p.Met1fs)
|
rs886042503
|
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.727C>T (p.Arg243Ter)
|
rs5030846
|
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_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00004
|
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
|
rs61751282
|
0.00004
|
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)
|
rs61751277
|
0.00004
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000400.4(ERCC2):c.183+2T>A
|
rs201127596
|
0.00004
|
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)
|
rs121913024
|
0.00004
|
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)
|
rs111033220
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)
|
rs786204421
|
0.00004
|
NM_000492.4(CFTR):c.1766+1G>A
|
rs121908748
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.2988G>A (p.Gln996=)
|
rs121908797
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)
|
rs188850202
|
0.00004
|
NM_000784.4(CYP27A1):c.845-1G>A
|
rs397515353
|
0.00004
|
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter)
|
rs138775799
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001048174.2(MUTYH):c.305-1G>C
|
rs372267274
|
0.00004
|
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter)
|
rs587780082
|
0.00004
|
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)
|
rs776838028
|
0.00004
|
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)
|
rs72650700
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter)
|
rs770296270
|
0.00004
|
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)
|
rs121908127
|
0.00004
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
NM_005199.5(CHRNG):c.397del (p.Ser133fs)
|
rs780249576
|
0.00004
|
NM_006019.4(TCIRG1):c.2236+1G>A
|
rs1475338876
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter)
|
rs140602858
|
0.00004
|
NM_018249.6(CDK5RAP2):c.4672C>T (p.Arg1558Ter)
|
rs373278668
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter)
|
rs377046630
|
0.00004
|
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)
|
rs772170760
|
0.00004
|
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)
|
rs370119681
|
0.00004
|
NM_025132.4(WDR19):c.781dup (p.Thr261fs)
|
rs748656635
|
0.00004
|
NM_031885.5(BBS2):c.534+1G>T
|
rs773862084
|
0.00004
|
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)
|
rs121909762
|
0.00004
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)
|
rs80356593
|
0.00004
|
NM_000019.4(ACAT1):c.1006-2A>C
|
rs145229472
|
0.00003
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
NM_000277.3(PAH):c.1066T>C (p.Tyr356His)
|
rs62507320
|
0.00003
|
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)
|
rs752255985
|
0.00003
|
NM_000277.3(PAH):c.136G>A (p.Gly46Ser)
|
rs74603784
|
0.00003
|
NM_000277.3(PAH):c.168+5G>C
|
rs62507288
|
0.00003
|
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
NM_000277.3(PAH):c.464G>A (p.Arg155His)
|
rs199475663
|
0.00003
|
NM_000277.3(PAH):c.516G>T (p.Gln172His)
|
rs192592111
|
0.00003
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
NM_000277.3(PAH):c.60+5G>T
|
rs62514895
|
0.00003
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
NM_000277.3(PAH):c.745C>T (p.Leu249Phe)
|
rs74503222
|
0.00003
|
NM_000277.3(PAH):c.890G>A (p.Arg297His)
|
rs62642939
|
0.00003
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)
|
rs62514958
|
0.00003
|
NM_000286.3(PEX12):c.126+1G>T
|
rs144259891
|
0.00003
|
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)
|
rs61752103
|
0.00003
|
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)
|
rs61752105
|
0.00003
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)
|
rs121913551
|
0.00003
|
NM_000317.3(PTS):c.84-291A>G
|
rs1480995114
|
0.00003
|
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)
|
rs61751281
|
0.00003
|
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)
|
rs121917745
|
0.00003
|
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)
|
rs61752905
|
0.00003
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)
|
rs72547562
|
0.00003
|
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)
|
rs41556519
|
0.00003
|
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)
|
rs201660407
|
0.00003
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)
|
rs121908363
|
0.00003
|
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)
|
rs757820624
|
0.00003
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)
|
rs121908805
|
0.00003
|
NM_000492.4(CFTR):c.1680-886A>G
|
rs397508266
|
0.00003
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)
|
rs121908761
|
0.00003
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_000518.5(HBB):c.316-2A>G
|
rs33914668
|
0.00003
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)
|
rs587779408
|
0.00003
|
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)
|
rs1228068212
|
0.00003
|
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter)
|
rs747319628
|
0.00003
|
NM_000784.4(CYP27A1):c.1263+1G>A
|
rs397515355
|
0.00003
|
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)
|
rs121908097
|
0.00003
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)
|
rs575064188
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys)
|
rs750066836
|
0.00003
|
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)
|
rs886042995
|
0.00003
|
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)
|
rs398123017
|
0.00003
|
NM_001283009.2(RTEL1):c.396-26C>T
|
rs80224512
|
0.00003
|
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)
|
rs886044666
|
0.00003
|
NM_002161.6(IARS1):c.213T>G (p.Tyr71Ter)
|
rs765771535
|
0.00003
|
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)
|
rs780594709
|
0.00003
|
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)
|
rs61752092
|
0.00003
|
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)
|
rs724160001
|
0.00003
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
NM_006019.4(TCIRG1):c.1554+2T>A
|
rs761918801
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs)
|
rs1382373816
|
0.00003
|
NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter)
|
rs756503608
|
0.00003
|
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter)
|
rs773246271
|
0.00003
|
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)
|
rs200116631
|
0.00003
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)
|
rs575767207
|
0.00003
|
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter)
|
rs751361090
|
0.00003
|
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)
|
rs375548374
|
0.00003
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)
|
rs121908179
|
0.00003
|
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)
|
rs376306240
|
0.00003
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)
|
rs121908178
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)
|
rs770461067
|
0.00003
|
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)
|
rs137852948
|
0.00003
|
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)
|
rs779050294
|
0.00003
|
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)
|
rs142107837
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
NM_152618.3(BBS12):c.1092del (p.Glu365fs)
|
rs770218590
|
0.00003
|
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)
|
rs137852856
|
0.00003
|
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter)
|
rs769256027
|
0.00003
|
NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr)
|
rs786205519
|
0.00003
|
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)
|
rs373771053
|
0.00002
|
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
|
rs120074141
|
0.00002
|
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)
|
rs532190594
|
0.00002
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000023.4(SGCA):c.197T>A (p.Leu66His)
|
rs767928766
|
0.00002
|
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)
|
rs367543028
|
0.00002
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter)
|
rs587783037
|
0.00002
|
NM_000231.3(SGCG):c.386-1G>A
|
rs913248720
|
0.00002
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00002
|
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)
|
rs111033192
|
0.00002
|
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser)
|
rs28942105
|
0.00002
|
NM_000277.3(PAH):c.1066-3C>T
|
rs62507344
|
0.00002
|
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)
|
rs62508682
|
0.00002
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00002
|
NM_000277.3(PAH):c.508C>G (p.His170Asp)
|
rs199475655
|
0.00002
|
NM_000277.3(PAH):c.558_559del (p.Trp187fs)
|
rs62517207
|
0.00002
|
NM_000277.3(PAH):c.581T>C (p.Leu194Pro)
|
rs5030844
|
0.00002
|
NM_000277.3(PAH):c.806del (p.Ile269fs)
|
rs62508687
|
0.00002
|
NM_000277.3(PAH):c.809G>A (p.Arg270Lys)
|
rs62514950
|
0.00002
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
0.00002
|
NM_000317.3(PTS):c.84-3C>G
|
rs1230781262
|
0.00002
|
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)
|
rs121917744
|
0.00002
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)
|
rs62642584
|
0.00002
|
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)
|
rs61752896
|
0.00002
|
NM_000360.4(TH):c.292C>T (p.Arg98Ter)
|
rs1057519220
|
0.00002
|
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His)
|
rs866392702
|
0.00002
|
NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter)
|
rs199643821
|
0.00002
|
NM_000400.4(ERCC2):c.1479+2dup
|
rs776705174
|
0.00002
|
NM_000400.4(ERCC2):c.2005del (p.Arg669fs)
|
rs1233791234
|
0.00002
|
NM_000441.2(SLC26A4):c.1149+3A>G
|
rs111033314
|
0.00002
|
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)
|
rs147952620
|
0.00002
|
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)
|
rs747076316
|
0.00002
|
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)
|
rs111033254
|
0.00002
|
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)
|
rs368119540
|
0.00002
|
NM_000466.3(PEX1):c.1239+1G>T
|
rs756876301
|
0.00002
|
NM_000466.3(PEX1):c.130-1G>T
|
rs1028247729
|
0.00002
|
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)
|
rs398123408
|
0.00002
|
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
|
rs749067142
|
0.00002
|
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)
|
rs121908753
|
0.00002
|
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)
|
rs139573311
|
0.00002
|
NM_000492.4(CFTR):c.165-3C>T
|
rs200337193
|
0.00002
|
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)
|
rs80055610
|
0.00002
|
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)
|
rs121909047
|
0.00002
|
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)
|
rs77284892
|
0.00002
|
NM_000492.4(CFTR):c.274-1G>A
|
rs121908792
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)
|
rs78802634
|
0.00002
|
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)
|
rs36210737
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000492.4(CFTR):c.490-1G>A
|
rs397508734
|
0.00002
|
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)
|
rs80282562
|
0.00002
|
NM_000492.4(CFTR):c.579+3A>G
|
rs397508761
|
0.00002
|
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)
|
rs79031340
|
0.00002
|
NM_000518.4(HBB):c.332T>C (p.Leu111Pro)
|
rs35256489
|
0.00002
|
NM_000518.5(HBB):c.20del (p.Glu7fs)
|
rs63749819
|
0.00002
|
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)
|
rs33986703
|
0.00002
|
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)
|
rs35424040
|
0.00002
|
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)
|
rs201550531
|
0.00002
|
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)
|
rs753508874
|
0.00002
|
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)
|
rs769904764
|
0.00002
|
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr)
|
rs752148586
|
0.00002
|
NM_000553.6(WRN):c.1578del (p.Leu528fs)
|
rs780555196
|
0.00002
|
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter)
|
rs774765029
|
0.00002
|
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter)
|
rs121908446
|
0.00002
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter)
|
rs72551319
|
0.00002
|
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)
|
rs762307622
|
0.00002
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001048174.2(MUTYH):c.49del (p.Ala17fs)
|
rs587781704
|
0.00002
|
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
|
rs34126013
|
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_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)
|
rs547352656
|
0.00002
|
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)
|
rs765263671
|
0.00002
|
NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter)
|
rs373915080
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_002617.4(PEX10):c.600+1G>A
|
rs267608183
|
0.00002
|
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter)
|
rs104893668
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004830.4(MED23):c.2832dup (p.Val945fs)
|
rs771485728
|
0.00002
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
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_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
NM_014797.3(ZBTB24):c.47C>G (p.Ser16Ter)
|
rs370370334
|
0.00002
|
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter)
|
rs1057518717
|
0.00002
|
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)
|
rs397509363
|
0.00002
|
NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter)
|
rs1431992617
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_018319.4(TDP1):c.1478A>G (p.His493Arg)
|
rs119467003
|
0.00002
|
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
|
rs104894075
|
0.00002
|
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=)
|
rs746128772
|
0.00002
|
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)
|
rs760345680
|
0.00002
|
NM_024685.4(BBS10):c.1244del (p.His415fs)
|
rs760642305
|
0.00002
|
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)
|
rs1460517643
|
0.00002
|
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)
|
rs1555202584
|
0.00002
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
NM_025114.4(CEP290):c.1066-1G>A
|
rs965522059
|
0.00002
|
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)
|
rs776645403
|
0.00002
|
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)
|
rs137852833
|
0.00002
|
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)
|
rs770126103
|
0.00002
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
NM_025114.4(CEP290):c.6012-12T>A
|
rs752197734
|
0.00002
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)
|
rs760540562
|
0.00002
|
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)
|
rs762047808
|
0.00002
|
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)
|
rs764164384
|
0.00002
|
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)
|
rs201082169
|
0.00002
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
NM_138694.4(PKHD1):c.390+1G>T
|
rs752327566
|
0.00002
|
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
|
rs774290802
|
0.00002
|
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)
|
rs369626030
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)
|
rs775081992
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)
|
rs752377040
|
0.00002
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)
|
rs120074144
|
0.00001
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)
|
rs780486838
|
0.00001
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000023.4(SGCA):c.157+1G>A
|
rs113109898
|
0.00001
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.2488dup (p.Thr830fs)
|
rs367543019
|
0.00001
|
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)
|
rs367543024
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
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.87dup (p.Gly30fs)
|
rs762777463
|
0.00001
|
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)
|
rs779516489
|
0.00001
|
NM_000232.5(SGCB):c.621+1G>T
|
rs1264362642
|
0.00001
|
NM_000232.5(SGCB):c.622-2A>G
|
rs780596734
|
0.00001
|
NM_000260.4(MYO7A):c.470+1G>A
|
rs797044510
|
0.00001
|
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)
|
rs139751448
|
0.00001
|
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
|
rs120074135
|
0.00001
|
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)
|
rs28942108
|
0.00001
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr)
|
rs62516150
|
0.00001
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
NM_000277.3(PAH):c.1183G>C (p.Ala395Pro)
|
rs62516103
|
0.00001
|
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)
|
rs62508736
|
0.00001
|
NM_000277.3(PAH):c.1199+17G>A
|
rs62508613
|
0.00001
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)
|
rs76542238
|
0.00001
|
NM_000277.3(PAH):c.193A>G (p.Ile65Val)
|
rs199475643
|
0.00001
|
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)
|
rs62509017
|
0.00001
|
NM_000277.3(PAH):c.275C>T (p.Thr92Ile)
|
rs62514903
|
0.00001
|
NM_000277.3(PAH):c.320A>G (p.His107Arg)
|
rs542645236
|
0.00001
|
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)
|
rs199475623
|
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.442-5C>G
|
rs62514909
|
0.00001
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
NM_000277.3(PAH):c.490A>G (p.Ile164Val)
|
rs199475647
|
0.00001
|
NM_000277.3(PAH):c.532G>A (p.Glu178Lys)
|
rs1448720360
|
0.00001
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000277.3(PAH):c.569T>C (p.Val190Ala)
|
rs62514919
|
0.00001
|
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)
|
rs62514927
|
0.00001
|
NM_000277.3(PAH):c.653G>T (p.Gly218Val)
|
rs62514933
|
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.737del (p.Ala246fs)
|
rs199475666
|
0.00001
|
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
NM_000277.3(PAH):c.776C>T (p.Ala259Val)
|
rs118203921
|
0.00001
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
NM_000277.3(PAH):c.789C>G (p.Phe263Leu)
|
rs62642944
|
0.00001
|
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)
|
rs62514953
|
0.00001
|
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
NM_000277.3(PAH):c.847A>T (p.Ile283Phe)
|
rs62517168
|
0.00001
|
NM_000277.3(PAH):c.848T>A (p.Ile283Asn)
|
rs62508693
|
0.00001
|
NM_000277.3(PAH):c.865G>A (p.Gly289Arg)
|
rs199475693
|
0.00001
|
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)
|
rs62642945
|
0.00001
|
NM_000277.3(PAH):c.912+1G>A
|
rs62514956
|
0.00001
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
NM_000277.3(PAH):c.926C>T (p.Ala309Val)
|
rs62642935
|
0.00001
|
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)
|
rs62642936
|
0.00001
|
NM_000277.3(PAH):c.940C>A (p.Pro314Thr)
|
rs199475650
|
0.00001
|
NM_000277.3(PAH):c.968_970del (p.Thr323del)
|
rs199475618
|
0.00001
|
NM_000277.3(PAH):c.969+6T>A
|
rs62517196
|
0.00001
|
NM_000286.3(PEX12):c.744dup (p.Thr249fs)
|
rs61752108
|
0.00001
|
NM_000288.4(PEX7):c.130+1G>A
|
rs267608253
|
0.00001
|
NM_000288.4(PEX7):c.188+1G>C
|
rs267608254
|
0.00001
|
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)
|
rs121909154
|
0.00001
|
NM_000288.4(PEX7):c.429del (p.Val144fs)
|
rs61753248
|
0.00001
|
NM_000288.4(PEX7):c.854A>G (p.His285Arg)
|
rs62653611
|
0.00001
|
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter)
|
rs1224538282
|
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_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
NM_000318.3(PEX2):c.-17-2A>G
|
rs1289852067
|
0.00001
|
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)
|
rs61752124
|
0.00001
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
NM_000329.3(RPE65):c.11+2T>G
|
rs778768116
|
0.00001
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)
|
rs1395763356
|
0.00001
|
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)
|
rs1645929674
|
0.00001
|
NM_000329.3(RPE65):c.493C>T (p.Gln165Ter)
|
rs1202384396
|
0.00001
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)
|
rs61752895
|
0.00001
|
NM_000329.3(RPE65):c.725+2T>A
|
rs1355979496
|
0.00001
|
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)
|
rs61752904
|
0.00001
|
NM_000329.3(RPE65):c.938A>G (p.His313Arg)
|
rs1375943362
|
0.00001
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)
|
rs761471961
|
0.00001
|
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)
|
rs121908557
|
0.00001
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
NM_000360.4(TH):c.646G>A (p.Gly216Ser)
|
rs762304556
|
0.00001
|
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)
|
rs397515522
|
0.00001
|
NM_000370.3(TTPA):c.205-1G>C
|
rs886040963
|
0.00001
|
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)
|
rs397515524
|
0.00001
|
NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter)
|
rs778479250
|
0.00001
|
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp)
|
rs752510317
|
0.00001
|
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn)
|
rs121913023
|
0.00001
|
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)
|
rs758439420
|
0.00001
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
NM_000441.2(SLC26A4):c.1150-1G>A
|
rs1791525285
|
0.00001
|
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)
|
rs397516416
|
0.00001
|
NM_000441.2(SLC26A4):c.1614+1G>A
|
rs111033312
|
0.00001
|
NM_000441.2(SLC26A4):c.1615-2A>G
|
rs758823761
|
0.00001
|
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)
|
rs111033257
|
0.00001
|
NM_000441.2(SLC26A4):c.1707+5G>A
|
rs192366176
|
0.00001
|
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter)
|
rs111033200
|
0.00001
|
NM_000441.2(SLC26A4):c.1746del (p.Ala584fs)
|
rs1241745103
|
0.00001
|
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)
|
rs200455203
|
0.00001
|
NM_000441.2(SLC26A4):c.1984dup (p.Cys662fs)
|
rs1271700356
|
0.00001
|
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)
|
rs752807925
|
0.00001
|
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)
|
rs1045933779
|
0.00001
|
NM_000441.2(SLC26A4):c.349del (p.Leu117fs)
|
rs1275009555
|
0.00001
|
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)
|
rs760413427
|
0.00001
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)
|
rs539699299
|
0.00001
|
NM_000441.2(SLC26A4):c.916dup (p.Val306fs)
|
rs768245266
|
0.00001
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
NM_000466.3(PEX1):c.1126del (p.Glu376fs)
|
rs751829426
|
0.00001
|
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)
|
rs61750422
|
0.00001
|
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)
|
rs121909017
|
0.00001
|
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)
|
rs77101217
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
|
rs397508256
|
0.00001
|
NM_000492.4(CFTR):c.1680-1G>A
|
rs121908794
|
0.00001
|
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn)
|
rs121909006
|
0.00001
|
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)
|
rs121908758
|
0.00001
|
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)
|
rs397508296
|
0.00001
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)
|
rs121908760
|
0.00001
|
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)
|
rs121908749
|
0.00001
|
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)
|
rs121908810
|
0.00001
|
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)
|
rs374946172
|
0.00001
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter)
|
rs397508378
|
0.00001
|
NM_000492.4(CFTR):c.2810dup (p.Val938fs)
|
rs193922510
|
0.00001
|
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)
|
rs141033578
|
0.00001
|
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)
|
rs397508464
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)
|
rs121909019
|
0.00001
|
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
NM_000492.4(CFTR):c.3659del (p.Thr1220fs)
|
rs121908811
|
0.00001
|
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)
|
rs267606723
|
0.00001
|
NM_000492.4(CFTR):c.3744del (p.Lys1250fs)
|
rs121908784
|
0.00001
|
NM_000492.4(CFTR):c.4242+1G>T
|
rs372227120
|
0.00001
|
NM_000492.4(CFTR):c.4243-2A>G
|
rs397508705
|
0.00001
|
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)
|
rs121909043
|
0.00001
|
NM_000492.4(CFTR):c.579+5G>A
|
rs78440224
|
0.00001
|
NM_000492.4(CFTR):c.595C>T (p.His199Tyr)
|
rs121908802
|
0.00001
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)
|
rs193922532
|
0.00001
|
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
|
rs33949486
|
0.00001
|
NM_000518.5(HBB):c.-78A>G
|
rs33931746
|
0.00001
|
NM_000518.5(HBB):c.25_26del (p.Lys9fs)
|
rs35497102
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)
|
rs755160837
|
0.00001
|
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)
|
rs120074126
|
0.00001
|
NM_000543.5(SMPD1):c.1341-1G>A
|
rs1057516854
|
0.00001
|
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)
|
rs370129081
|
0.00001
|
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)
|
rs868423827
|
0.00001
|
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)
|
rs1847910654
|
0.00001
|
NM_000543.5(SMPD1):c.573del (p.Ser192fs)
|
rs727504167
|
0.00001
|
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)
|
rs764317969
|
0.00001
|
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)
|
rs989639224
|
0.00001
|
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)
|
rs750779804
|
0.00001
|
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
|
rs120074128
|
0.00001
|
NM_000553.6(WRN):c.2194C>T (p.Arg732Ter)
|
rs143916053
|
0.00001
|
NM_000553.6(WRN):c.2221C>T (p.Arg741Ter)
|
rs763089663
|
0.00001
|
NM_000553.6(WRN):c.3460-1G>A
|
rs1802899166
|
0.00001
|
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)
|
rs762379051
|
0.00001
|
NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter)
|
rs1303126572
|
0.00001
|
NM_000784.4(CYP27A1):c.1185-1G>A
|
rs587778779
|
0.00001
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+5G>T
|
rs587778784
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)
|
rs72551314
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)
|
rs72551315
|
0.00001
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)
|
rs387907009
|
0.00001
|
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter)
|
rs867772426
|
0.00001
|
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)
|
rs373909351
|
0.00001
|
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter)
|
rs1280238814
|
0.00001
|
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)
|
rs779858591
|
0.00001
|
NM_001023570.4(IQCB1):c.488-1G>A
|
rs779696701
|
0.00001
|
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter)
|
rs1189889920
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
NM_001048174.2(MUTYH):c.856C>T (p.Gln286Ter)
|
rs587781338
|
0.00001
|
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)
|
rs121908577
|
0.00001
|
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)
|
rs779331797
|
0.00001
|
NM_001079866.2(BCS1L):c.696del (p.Gly233fs)
|
rs775388576
|
0.00001
|
NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys)
|
rs1197613485
|
0.00001
|
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)
|
rs1280810181
|
0.00001
|
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)
|
rs774844858
|
0.00001
|
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)
|
rs61752136
|
0.00001
|
NM_001128178.3(NPHP1):c.1270-1G>A
|
rs376492641
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+1G>T
|
rs1233478832
|
0.00001
|
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter)
|
rs766614772
|
0.00001
|
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)
|
rs762607878
|
0.00001
|
NM_001267550.2(TTN):c.14093-1G>A
|
rs869312099
|
0.00001
|
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)
|
rs770038577
|
0.00001
|
NM_001283009.2(RTEL1):c.2142-2A>G
|
rs2090696292
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)
|
rs754391973
|
0.00001
|
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)
|
rs773404494
|
0.00001
|
NM_001384140.1(PCDH15):c.3373+1G>A
|
rs2085799827
|
0.00001
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)
|
rs61750434
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter)
|
rs1178109063
|
0.00001
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)
|
rs113994208
|
0.00001
|
NM_004937.3(CTNS):c.646dup (p.Thr216fs)
|
rs893207601
|
0.00001
|
NM_004937.3(CTNS):c.681+1G>A
|
rs749317721
|
0.00001
|
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)
|
rs746307931
|
0.00001
|
NM_006019.4(TCIRG1):c.-5+1G>T
|
rs917505107
|
0.00001
|
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter)
|
rs1489993984
|
0.00001
|
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)
|
rs777785526
|
0.00001
|
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)
|
rs200851583
|
0.00001
|
NM_006019.4(TCIRG1):c.196+5G>A
|
rs1470999303
|
0.00001
|
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)
|
rs1338631330
|
0.00001
|
NM_006019.4(TCIRG1):c.630G>A (p.Thr210=)
|
rs1293760338
|
0.00001
|
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)
|
rs749361897
|
0.00001
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)
|
rs1558498928
|
0.00001
|
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)
|
rs753621591
|
0.00001
|
NM_006907.4(PYCR1):c.356G>A (p.Arg119His)
|
rs121918377
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)
|
rs587777167
|
0.00001
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
NM_014363.6(SACS):c.3066del (p.Asn1025fs)
|
rs1057516767
|
0.00001
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)
|
rs755824618
|
0.00001
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)
|
rs773182375
|
0.00001
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)
|
rs886041949
|
0.00001
|
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter)
|
rs386834001
|
0.00001
|
NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter)
|
rs373520509
|
0.00001
|
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)
|
rs768019897
|
0.00001
|
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter)
|
rs1335417539
|
0.00001
|
NM_016302.4(CRBN):c.433C>T (p.Arg145Ter)
|
rs1302797003
|
0.00001
|
NM_016529.6(ATP8A2):c.77-2A>G
|
rs373909734
|
0.00001
|
NM_017777.4(MKS1):c.191-1G>A
|
rs201362733
|
0.00001
|
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)
|
rs762482919
|
0.00001
|
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)
|
rs990955357
|
0.00001
|
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)
|
rs386834050
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter)
|
rs77424753
|
0.00001
|
NM_018249.6(CDK5RAP2):c.1279C>T (p.Arg427Ter)
|
rs774388179
|
0.00001
|
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)
|
rs397509417
|
0.00001
|
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter)
|
rs587777626
|
0.00001
|
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)
|
rs745656125
|
0.00001
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
0.00001
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)
|
rs786204575
|
0.00001
|
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)
|
rs778431173
|
0.00001
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter)
|
rs755341613
|
0.00001
|
NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs)
|
rs767774867
|
0.00001
|
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter)
|
rs763559949
|
0.00001
|
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)
|
rs1186821575
|
0.00001
|
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)
|
rs760415289
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
NM_025114.4(CEP290):c.297+1G>T
|
rs878853360
|
0.00001
|
NM_025114.4(CEP290):c.3185del (p.Leu1062fs)
|
rs863225189
|
0.00001
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)
|
rs1468942944
|
0.00001
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)
|
rs757641323
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_025114.4(CEP290):c.5163del (p.Thr1722fs)
|
rs1565827171
|
0.00001
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
0.00001
|
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)
|
rs371525247
|
0.00001
|
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)
|
rs767426153
|
0.00001
|
NM_025114.4(CEP290):c.6012-2A>G
|
rs555755221
|
0.00001
|
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)
|
rs750073051
|
0.00001
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)
|
rs121908176
|
0.00001
|
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)
|
rs201063733
|
0.00001
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
NM_031885.5(BBS2):c.504del (p.Leu168fs)
|
rs1224014742
|
0.00001
|
NM_031885.5(BBS2):c.563del (p.Ile188fs)
|
rs1367927635
|
0.00001
|
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter)
|
rs1273181642
|
0.00001
|
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)
|
rs121908180
|
0.00001
|
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)
|
rs779690256
|
0.00001
|
NM_031885.5(BBS2):c.717+1G>A
|
rs1047075022
|
0.00001
|
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)
|
rs746471701
|
0.00001
|
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs)
|
rs747170980
|
0.00001
|
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)
|
rs786204749
|
0.00001
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)
|
rs765251347
|
0.00001
|
NM_138694.4(PKHD1):c.1964+1G>T
|
rs1385712943
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs)
|
rs767737392
|
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.2936C>T (p.Thr979Ile)
|
rs747895516
|
0.00001
|
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs)
|
rs797044713
|
0.00001
|
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)
|
rs727504096
|
0.00001
|
NM_138694.4(PKHD1):c.383del (p.Thr128fs)
|
rs868562051
|
0.00001
|
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter)
|
rs1350620976
|
0.00001
|
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)
|
rs794727566
|
0.00001
|
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)
|
rs770522674
|
0.00001
|
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)
|
rs774759689
|
0.00001
|
NM_138694.4(PKHD1):c.707+1G>A
|
rs748365248
|
0.00001
|
NM_138694.4(PKHD1):c.711_714del (p.Met238fs)
|
rs786204588
|
0.00001
|
NM_138694.4(PKHD1):c.7350+653A>G
|
rs1240212722
|
0.00001
|
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)
|
rs137852947
|
0.00001
|
NM_138694.4(PKHD1):c.8555-2A>C
|
rs1020621286
|
0.00001
|
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)
|
rs779168950
|
0.00001
|
NM_138694.4(PKHD1):c.8642+1G>A
|
rs1485161784
|
0.00001
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
|
rs765020336
|
0.00001
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys)
|
rs957419550
|
0.00001
|
NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter)
|
rs758732107
|
0.00001
|
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)
|
rs1057516577
|
0.00001
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp)
|
rs28941781
|
0.00001
|
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)
|
rs1381368546
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)
|
rs1269565757
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_152618.3(BBS12):c.898C>T (p.Gln300Ter)
|
rs754448484
|
0.00001
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153676.4(USH1C):c.375del (p.Ser125fs)
|
rs756032457
|
0.00001
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777
|
0.00001
|
NM_153676.4(USH1C):c.497-2del
|
rs1480243085
|
0.00001
|
NM_153676.4(USH1C):c.586C>T (p.Arg196Ter)
|
rs1290295453
|
0.00001
|
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)
|
rs1223763703
|
0.00001
|
NM_153676.4(USH1C):c.877-1G>A
|
rs771279169
|
0.00001
|
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)
|
rs121908370
|
0.00001
|
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter)
|
rs753180214
|
0.00001
|
NM_170784.3(MKKS):c.380del (p.Cys127fs)
|
rs867346158
|
0.00001
|
NM_170784.3(MKKS):c.837del (p.Gly280fs)
|
rs776004321
|
0.00001
|
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr)
|
rs147704542
|
0.00001
|
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)
|
rs727503821
|
0.00001
|
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)
|
rs151275562
|
0.00001
|
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter)
|
rs998200637
|
0.00001
|
NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter)
|
rs748601675
|
0.00001
|
NM_198428.3(BBS9):c.1693+1G>A
|
rs1295000119
|
0.00001
|
NM_198428.3(BBS9):c.263+1G>A
|
rs137962929
|
0.00001
|
NM_198428.3(BBS9):c.442+1G>C
|
rs587777811
|
0.00001
|
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
|
rs767005321
|
0.00001
|
NM_203486.3(DLL3):c.712C>T (p.Arg238Ter)
|
rs104894675
|
0.00001
|
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)
|
rs1358947010
|
0.00001
|
GRCh37/hg19 15q15.3(chr15:43890409-43939642)
|
|
|
GRCh37/hg19 15q15.3(chr15:43891364-43939659)
|
|
|
GRCh37/hg19 2q13(chr2:110862477-110983703)
|
|
|
GRCh37/hg19 4p14(chr4:39215680-39219295)
|
|
|
NM_000019.4(ACAT1):c.1006-1G>C
|
rs1131691567
|
|
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)
|
rs781496140
|
|
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
|
|
|
NM_000019.4(ACAT1):c.435+1G>A
|
rs1591363834
|
|
NM_000019.4(ACAT1):c.52dup (p.Leu18fs)
|
rs1476273214
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)
|
rs749873354
|
|
NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter)
|
rs1598265248
|
|
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)
|
rs752640127
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)
|
rs1057517377
|
|
NM_000023.4(SGCA):c.86dup (p.His29fs)
|
rs1904986620
|
|
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)
|
rs1555569329
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000023.4(SGCA):c.957-1G>T
|
rs2144502043
|
|
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)
|
rs796065318
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter)
|
rs730881428
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
NM_000057.4(BLM):c.1544del (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1624del (p.Asp542fs)
|
rs747498968
|
|
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)
|
rs1356090839
|
|
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)
|
rs762804291
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000057.4(BLM):c.2406+2T>G
|
rs367543016
|
|
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter)
|
rs367543039
|
|
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)
|
rs1309932713
|
|
NM_000057.4(BLM):c.2923del (p.Gln975fs)
|
rs367543014
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.320dup (p.Leu107fs)
|
rs781221411
|
|
NM_000057.4(BLM):c.3261del (p.Phe1087fs)
|
rs1319786857
|
|
NM_000057.4(BLM):c.3564del (p.Phe1189fs)
|
rs1486692931
|
|
NM_000057.4(BLM):c.357_358del (p.Cys120fs)
|
rs748186908
|
|
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
|
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer)
|
rs367543035
|
|
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)
|
rs367543026
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_000057.4(BLM):c.959+2T>C
|
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_000067.3(CA2):c.232+1G>A
|
rs573750741
|
|
NM_000067.3(CA2):c.630_641delinsCACA (p.Leu211fs)
|
|
|
NM_000070.3(CAPN3):c.2050+1G>A
|
rs768374736
|
|
NM_000070.3(CAPN3):c.59del (p.Pro20fs)
|
rs1555417271
|
|
NM_000092.5(COL4A4):c.3214+1G>T
|
rs747167770
|
|
NM_000123.4(ERCC5):c.1855C>T (p.Gln619Ter)
|
rs1882701423
|
|
NM_000124.4(ERCC6):c.1518del (p.Lys506fs)
|
rs786205168
|
|
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)
|
rs1439211546
|
|
NM_000162.5(GCK):c.683C>T (p.Thr228Met)
|
rs80356655
|
|
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)
|
rs781760379
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer)
|
rs886042540
|
|
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter)
|
rs1881219252
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.582dup (p.Glu195fs)
|
|
|
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)
|
rs780348174
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)
|
|
|
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)
|
rs1553940963
|
|
NM_000232.5(SGCB):c.253_254del (p.Val85fs)
|
rs1553940274
|
|
NM_000232.5(SGCB):c.29_33del (p.Glu10fs)
|
rs1057517064
|
|
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)
|
rs750773622
|
|
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
|
|
|
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.572del (p.Leu191fs)
|
rs886042546
|
|
NM_000232.5(SGCB):c.622-1G>C
|
rs2109370093
|
|
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)
|
rs775458201
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
|
rs111033347
|
|
NM_000260.4(MYO7A):c.3878_3879del (p.Leu1293fs)
|
rs760251968
|
|
NM_000271.5(NPC1):c.2297T>A (p.Leu766Ter)
|
rs2058711607
|
|
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)
|
rs786204512
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
NM_000271.5(NPC1):c.839del (p.Leu280fs)
|
rs1057518711
|
|
NM_000277.2(PAH):c.169_171delGAG
|
rs199475665
|
|
NM_000277.3(PAH):c.1024del (p.Ala342fs)
|
rs63581460
|
|
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys)
|
rs62507265
|
|
NM_000277.3(PAH):c.1031G>A (p.Gly344Asp)
|
rs62508582
|
|
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)
|
rs62516062
|
|
NM_000277.3(PAH):c.1045T>G (p.Ser349Ala)
|
rs62508646
|
|
NM_000277.3(PAH):c.1055del (p.Gly352fs)
|
rs62516094
|
|
NM_000277.3(PAH):c.1065+1G>T
|
rs62516147
|
|
NM_000277.3(PAH):c.1065+241C>A
|
rs2136636327
|
|
NM_000277.3(PAH):c.1066-14C>G
|
rs62507334
|
|
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)
|
rs62516095
|
|
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)
|
rs376480977
|
|
NM_000277.3(PAH):c.1084C>A (p.Pro362Thr)
|
rs62507329
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
NM_000277.3(PAH):c.1097C>A (p.Pro366His)
|
rs62516098
|
|
NM_000277.3(PAH):c.1099dup (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1127del (p.Asn376fs)
|
rs62642921
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)
|
rs62517194
|
|
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)
|
rs776178623
|
|
NM_000277.3(PAH):c.1197A>T (p.Val399=)
|
rs199475584
|
|
NM_000277.3(PAH):c.1198del (p.Arg400fs)
|
rs199475590
|
|
NM_000277.3(PAH):c.1199+1G>A
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)
|
rs79931499
|
|
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)
|
rs199475696
|
|
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)
|
rs199475659
|
|
NM_000277.3(PAH):c.1315+2T>C
|
rs1799970
|
|
NM_000277.3(PAH):c.1315+4A>G
|
rs62508649
|
|
NM_000277.3(PAH):c.1315+6T>A
|
rs62508650
|
|
NM_000277.3(PAH):c.1316-2A>C
|
rs760830761
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
NM_000277.3(PAH):c.266dup (p.Ala90fs)
|
rs62506950
|
|
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
|
rs62508727
|
|
NM_000277.3(PAH):c.301G>A (p.Asp101Asn)
|
rs1555207979
|
|
NM_000277.3(PAH):c.352+1G>A
|
rs199475684
|
|
NM_000277.3(PAH):c.398_401del (p.Asn133fs)
|
rs199475605
|
|
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)
|
rs199475624
|
|
NM_000277.3(PAH):c.441+3G>C
|
rs62508642
|
|
NM_000277.3(PAH):c.442-1G>A
|
rs62514907
|
|
NM_000277.3(PAH):c.460T>C (p.Tyr154His)
|
rs199475587
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.48dup (p.Asp17Ter)
|
rs1592991176
|
|
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)
|
rs199475645
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
NM_000277.3(PAH):c.505C>A (p.Arg169Ser)
|
rs281865440
|
|
NM_000277.3(PAH):c.506G>T (p.Arg169Leu)
|
|
|
NM_000277.3(PAH):c.509+1G>A
|
rs63102461
|
|
NM_000277.3(PAH):c.510-2A>G
|
rs1555204750
|
|
NM_000277.3(PAH):c.510T>G (p.His170Gln)
|
rs199475652
|
|
NM_000277.3(PAH):c.529G>A (p.Val177Met)
|
rs199475602
|
|
NM_000277.3(PAH):c.529G>C (p.Val177Leu)
|
rs199475602
|
|
NM_000277.3(PAH):c.544G>A (p.Glu182Lys)
|
rs2136649777
|
|
NM_000277.3(PAH):c.556del (p.Thr186fs)
|
rs62507328
|
|
NM_000277.3(PAH):c.578C>T (p.Thr193Ile)
|
|
|
NM_000277.3(PAH):c.591G>C (p.Leu197Phe)
|
rs281865442
|
|
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)
|
rs199475697
|
|
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)
|
rs62514928
|
|
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)
|
rs62517201
|
|
NM_000277.3(PAH):c.632del (p.Pro211fs)
|
rs62514929
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
|
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)
|
rs62509013
|
|
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)
|
rs62514936
|
|
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)
|
rs62507323
|
|
NM_000277.3(PAH):c.691T>C (p.Ser231Pro)
|
rs5030845
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000277.3(PAH):c.722del (p.Arg241fs)
|
rs199475657
|
|
NM_000277.3(PAH):c.724C>T (p.Leu242Phe)
|
rs199475578
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
NM_000277.3(PAH):c.740G>T (p.Gly247Val)
|
rs199475579
|
|
NM_000277.3(PAH):c.745del (p.Leu249fs)
|
rs1057516914
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000277.3(PAH):c.792del (p.Cys265fs)
|
|
|
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)
|
rs62507262
|
|
NM_000277.3(PAH):c.833C>T (p.Thr278Ile)
|
rs62507262
|
|
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)
|
rs796064503
|
|
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)
|
rs199475582
|
|
NM_000277.3(PAH):c.856G>A (p.Glu286Lys)
|
rs62508739
|
|
NM_000277.3(PAH):c.910C>T (p.Gln304Ter)
|
rs1555204295
|
|
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)
|
rs62642913
|
|
NM_000277.3(PAH):c.938C>T (p.Ala313Val)
|
rs62642914
|
|
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)
|
rs199475615
|
|
NM_000277.3(PAH):c.977G>A (p.Trp326Ter)
|
rs62514959
|
|
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del)
|
rs267608184
|
|
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)
|
rs61752100
|
|
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)
|
rs776731688
|
|
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)
|
rs61752106
|
|
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)
|
rs61752107
|
|
NM_000286.3(PEX12):c.887del (p.Leu296fs)
|
|
|
NM_000286.3(PEX12):c.888_889del (p.Leu297fs)
|
rs398123301
|
|
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)
|
rs62636519
|
|
NM_000288.4(PEX7):c.183del (p.Phe61fs)
|
rs774131564
|
|
NM_000288.4(PEX7):c.188+1G>A
|
rs267608254
|
|
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)
|
rs62653604
|
|
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)
|
rs61753233
|
|
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153
|
|
NM_000302.4(PLOD1):c.1795del (p.Ile599fs)
|
rs1557500194
|
|
NM_000317.3(PTS):c.118_121del (p.Phe40fs)
|
rs747260038
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
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.186+1G>A
|
|
|
NM_000317.3(PTS):c.238A>G (p.Met80Val)
|
rs1057517810
|
|
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
|
|
|
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)
|
rs104894276
|
|
NM_000317.3(PTS):c.272A>G (p.Lys91Arg)
|
rs761285716
|
|
NM_000317.3(PTS):c.276T>A (p.Asn92Lys)
|
|
|
NM_000317.3(PTS):c.308T>C (p.Val103Ala)
|
rs1555198459
|
|
NM_000317.3(PTS):c.315-2A>G
|
rs1555198483
|
|
NM_000317.3(PTS):c.331G>A (p.Ala111Thr)
|
rs1367077861
|
|
NM_000317.3(PTS):c.379C>T (p.Leu127Phe)
|
rs1859971515
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
NM_000317.3(PTS):c.73C>T (p.Arg25Ter)
|
rs1167104933
|
|
NM_000318.3(PEX2):c.279_283del (p.Arg94fs)
|
rs61752122
|
|
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter)
|
rs2132044384
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)
|
rs62642583
|
|
NM_000329.3(RPE65):c.1040G>A (p.Arg347His)
|
rs562037932
|
|
NM_000329.3(RPE65):c.1059dup (p.Lys354fs)
|
rs2100817031
|
|
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs)
|
rs62636295
|
|
NM_000329.3(RPE65):c.1338+1G>A
|
rs1057518922
|
|
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)
|
rs62637006
|
|
NM_000329.3(RPE65):c.1451-1G>A
|
rs1317871521
|
|
NM_000329.3(RPE65):c.1451-2del
|
rs2100805351
|
|
NM_000329.3(RPE65):c.1503T>A (p.Tyr501Ter)
|
|
|
NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)
|
rs2100804954
|
|
NM_000329.3(RPE65):c.1590del (p.Phe530fs)
|
rs281865292
|
|
NM_000329.3(RPE65):c.190del (p.Gln64fs)
|
|
|
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)
|
rs1344724754
|
|
NM_000329.3(RPE65):c.208T>G (p.Phe70Val)
|
|
|
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
|
|
|
NM_000329.3(RPE65):c.354-2A>G
|
|
|
NM_000329.3(RPE65):c.361del (p.Ser121fs)
|
rs121918844
|
|
NM_000329.3(RPE65):c.361dup (p.Ser121fs)
|
rs121918844
|
|
NM_000329.3(RPE65):c.46_49del (p.Phe16fs)
|
rs866809120
|
|
NM_000329.3(RPE65):c.545A>G (p.His182Arg)
|
rs1459110114
|
|
NM_000329.3(RPE65):c.61del (p.Glu21fs)
|
rs758550330
|
|
NM_000329.3(RPE65):c.644-2A>T
|
rs61752891
|
|
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)
|
rs373652862
|
|
NM_000329.3(RPE65):c.893del (p.Lys298fs)
|
rs61752902
|
|
NM_000329.3(RPE65):c.894del (p.Lys298fs)
|
rs61752903
|
|
NM_000329.3(RPE65):c.906_907del (p.Asn302fs)
|
|
|
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)
|
rs768448761
|
|
NM_000329.3(RPE65):c.962dup (p.Asn321fs)
|
rs61752906
|
|
NM_000329.3(RPE65):c.998+1G>A
|
rs1645879495
|
|
NM_000329.3(RPE65):c.999-1G>T
|
|
|
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
|
rs121908547
|
|
NM_000334.4(SCN4A):c.685del (p.Thr229fs)
|
rs1909597270
|
|
NM_000360.4(TH):c.1010C>T (p.Pro337Leu)
|
rs2133692289
|
|
NM_000360.4(TH):c.1052T>C (p.Ile351Thr)
|
rs1554922725
|
|
NM_000360.4(TH):c.203del (p.Leu68fs)
|
rs1554923852
|
|
NM_000360.4(TH):c.641G>T (p.Arg214Met)
|
|
|
NM_000370.3(TTPA):c.218_219dup (p.Tyr74fs)
|
rs766675875
|
|
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)
|
rs1554524061
|
|
NM_000370.3(TTPA):c.303T>G (p.His101Gln)
|
rs121917849
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)
|
rs387906256
|
|
NM_000382.3(ALDH3A2):c.471+1del
|
rs786204741
|
|
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)
|
rs587778271
|
|
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
|
|
|
NM_000400.4(ERCC2):c.1808_1809del (p.Lys603fs)
|
|
|
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs)
|
rs1971844960
|
|
NM_000400.4(ERCC2):c.2009del (p.Gly670fs)
|
rs1971844830
|
|
NM_000400.4(ERCC2):c.2190+1del
|
rs1476160722
|
|
NM_000400.4(ERCC2):c.361-1G>A
|
|
|
NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer)
|
rs767747355
|
|
NM_000400.4(ERCC2):c.594+2_594+5del
|
rs762309206
|
|
NM_000441.1(SLC26A4):c.1342-2_1343dup
|
rs111033407
|
|
NM_000441.2(SLC26A4):c.1001+1G>T
|
rs80338849
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
NM_000441.2(SLC26A4):c.1022dup (p.Pro342fs)
|
|
|
NM_000441.2(SLC26A4):c.1149+1G>A
|
|
|
NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs)
|
rs1554358720
|
|
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)
|
rs201562855
|
|
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del)
|
rs777008062
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.1263+1G>A
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter)
|
rs1562835480
|
|
NM_000441.2(SLC26A4):c.1341+1del
|
rs397516417
|
|
NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter)
|
rs747076316
|
|
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)
|
rs1554359670
|
|
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)
|
rs201636911
|
|
NM_000441.2(SLC26A4):c.1437+2T>G
|
rs397516418
|
|
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs)
|
rs1584331188
|
|
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)
|
rs786204601
|
|
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala)
|
rs727505088
|
|
NM_000441.2(SLC26A4):c.1536_1537del (p.Arg512fs)
|
|
|
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)
|
rs786204450
|
|
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter)
|
rs727503428
|
|
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu)
|
rs765197819
|
|
NM_000441.2(SLC26A4):c.1614+1G>T
|
rs111033312
|
|
NM_000441.2(SLC26A4):c.164+1del
|
rs786204504
|
|
NM_000441.2(SLC26A4):c.164+2T>C
|
rs397516420
|
|
NM_000441.2(SLC26A4):c.164+2T>G
|
|
|
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)
|
rs1554360678
|
|
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)
|
rs746427774
|
|
NM_000441.2(SLC26A4):c.1803+2T>C
|
rs768454870
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2034+1G>T
|
|
|
NM_000441.2(SLC26A4):c.2113C>T (p.Gln705Ter)
|
|
|
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)
|
rs142656144
|
|
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)
|
rs786204523
|
|
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)
|
rs1417146153
|
|
NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs)
|
rs1792142540
|
|
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser)
|
rs1554352676
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter)
|
rs1057516658
|
|
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)
|
rs1057516953
|
|
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)
|
rs111033241
|
|
NM_000441.2(SLC26A4):c.304+2T>C
|
rs746238617
|
|
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser)
|
rs1409565648
|
|
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)
|
rs786204730
|
|
NM_000441.2(SLC26A4):c.387del (p.Phe130fs)
|
rs2129311265
|
|
NM_000441.2(SLC26A4):c.414del (p.Gly139fs)
|
|
|
NM_000441.2(SLC26A4):c.416-1G>A
|
rs1057516988
|
|
NM_000441.2(SLC26A4):c.574del (p.Ala191_Leu192insTer)
|
|
|
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)
|
rs111033380
|
|
NM_000441.2(SLC26A4):c.600+2T>A
|
rs1057516881
|
|
NM_000441.2(SLC26A4):c.668T>C (p.Phe223Ser)
|
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000441.2(SLC26A4):c.737del (p.Asn246fs)
|
rs918684449
|
|
NM_000441.2(SLC26A4):c.890del (p.Pro297fs)
|
rs786204600
|
|
NM_000441.2(SLC26A4):c.918+1G>T
|
rs111033245
|
|
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter)
|
rs1554357231
|
|
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)
|
rs786204606
|
|
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)
|
rs267608178
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)
|
rs1057517481
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)
|
rs1562846113
|
|
NM_000466.3(PEX1):c.358-1G>T
|
rs1057517479
|
|
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
|
rs769836601
|
|
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)
|
rs201415996
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs)
|
rs121908780
|
|
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)
|
rs746418935
|
|
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)
|
rs397508139
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1116+1G>A
|
rs397508158
|
|
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)
|
rs121908785
|
|
NM_000492.4(CFTR):c.1210-2A>C
|
rs397508179
|
|
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1340del (p.Lys447fs)
|
rs397508192
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1373del (p.Gly458fs)
|
rs397508196
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)
|
rs121908757
|
|
NM_000492.4(CFTR):c.1692del (p.Asp565fs)
|
rs193922505
|
|
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)
|
rs397508288
|
|
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs)
|
rs1584812217
|
|
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs)
|
rs121908779
|
|
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)
|
rs121908812
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)
|
rs75115087
|
|
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
NM_000492.4(CFTR):c.2453del (p.Leu818fs)
|
rs397515498
|
|
NM_000492.4(CFTR):c.2502dup (p.Asp835Ter)
|
rs397508389
|
|
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter)
|
rs267606722
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.273+3A>C
|
rs74467662
|
|
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)
|
rs121908751
|
|
NM_000492.4(CFTR):c.2989-2A>G
|
rs193922515
|
|
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)
|
rs397508480
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
NM_000492.4(CFTR):c.3139+1del
|
rs780546355
|
|
NM_000492.4(CFTR):c.313del (p.Ile105fs)
|
rs121908801
|
|
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)
|
rs142394380
|
|
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)
|
rs121909036
|
|
NM_000492.4(CFTR):c.319_326del (p.Ile106_Ala107insTer)
|
rs397508516
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3368-2A>T
|
rs755416052
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000492.4(CFTR):c.3717+40A>G
|
rs397508595
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter)
|
rs397508604
|
|
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs)
|
rs121908789
|
|
NM_000492.4(CFTR):c.3873+1G>A
|
rs143570767
|
|
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)
|
rs121908808
|
|
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs)
|
rs397508668
|
|
NM_000492.4(CFTR):c.531del (p.Ile177fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.580-1G>T
|
rs121908793
|
|
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
|
rs397508778
|
|
NM_000492.4(CFTR):c.870-1G>C
|
rs1351058559
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000492.4(CFTR):c.987del (p.Gly330fs)
|
rs397508824
|
|
NM_000518.4(HBB):c.-137C>T
|
rs33941377
|
|
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)
|
rs33946267
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)
|
rs33960103
|
|
NM_000518.5(HBB):c.-78A>C
|
rs33931746
|
|
NM_000518.5(HBB):c.112del (p.Trp38fs)
|
rs63750532
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.130G>T (p.Glu44Ter)
|
rs33922842
|
|
NM_000518.5(HBB):c.17_18del (p.Pro6fs)
|
rs34889882
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000518.5(HBB):c.2T>G (p.Met1Arg)
|
rs33941849
|
|
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)
|
rs33946267
|
|
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)
|
rs63750783
|
|
NM_000518.5(HBB):c.85dup (p.Leu29fs)
|
rs35532010
|
|
NM_000518.5(HBB):c.92+1G>T
|
rs33971440
|
|
NM_000543.5(SMPD1):c.106dup (p.Val36fs)
|
rs1590735238
|
|
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs)
|
rs1590735307
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs)
|
rs1057516432
|
|
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)
|
rs120074125
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs)
|
rs748411156
|
|
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs)
|
rs398123476
|
|
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)
|
rs267607075
|
|
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)
|
rs281860665
|
|
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)
|
rs120074117
|
|
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)
|
rs1057516949
|
|
NM_000543.5(SMPD1):c.1565A>G (p.Asn522Ser)
|
|
|
NM_000543.5(SMPD1):c.1605G>A (p.Trp535Ter)
|
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.1630del (p.Thr544fs)
|
rs770962157
|
|
NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter)
|
rs2134006149
|
|
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs)
|
rs1437508852
|
|
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs)
|
rs1057516403
|
|
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
|
rs120074118
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter)
|
rs1554934193
|
|
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)
|
rs786204733
|
|
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)
|
rs786204694
|
|
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)
|
rs748165078
|
|
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)
|
rs797044798
|
|
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)
|
rs1554933751
|
|
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
|
rs794727252
|
|
NM_000543.5(SMPD1):c.7del (p.Arg3fs)
|
rs281860663
|
|
NM_000543.5(SMPD1):c.84del (p.Gly29fs)
|
rs750157176
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
NM_000543.5(SMPD1):c.945C>A (p.Tyr315Ter)
|
|
|
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)
|
rs786204506
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|
NM_000553.6(WRN):c.1134del (p.Glu379fs)
|
|
|
NM_000553.6(WRN):c.171C>G (p.Tyr57Ter)
|
rs373806031
|
|
NM_000553.6(WRN):c.1801_1802del (p.Leu601fs)
|
|
|
NM_000553.6(WRN):c.2103_2104del (p.Leu702fs)
|
rs1383589957
|
|
NM_000553.6(WRN):c.2229_2230del (p.Gly744fs)
|
|
|
NM_000553.6(WRN):c.2448+1G>A
|
rs2130306367
|
|
NM_000553.6(WRN):c.2630+1G>A
|
rs1279240593
|
|
NM_000553.6(WRN):c.2884C>T (p.Gln962Ter)
|
rs1585502089
|
|
NM_000553.6(WRN):c.3020del (p.Gly1007fs)
|
|
|
NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs)
|
rs748860208
|
|
NM_000553.6(WRN):c.3139-1G>C
|
rs113993961
|
|
NM_000553.6(WRN):c.3190C>T (p.Gln1064Ter)
|
|
|
NM_000553.6(WRN):c.3233+2T>C
|
|
|
NM_000553.6(WRN):c.356-2A>C
|
rs780068269
|
|
NM_000553.6(WRN):c.3590del (p.Asn1197fs)
|
rs281865160
|
|
NM_000553.6(WRN):c.3690_3693del
|
rs606231162
|
|
NM_000553.6(WRN):c.502_503del (p.Lys168fs)
|
rs776785728
|
|
NM_000760.4(CSF3R):c.843+2T>C
|
rs1650834071
|
|
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)
|
rs1178393503
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1476+2T>C
|
rs1165952837
|
|
NM_000784.4(CYP27A1):c.1477-2A>C
|
rs111570247
|
|
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs)
|
rs1163340926
|
|
NM_000784.4(CYP27A1):c.256-1G>T
|
rs886556800
|
|
NM_000784.4(CYP27A1):c.303del (p.Pro102fs)
|
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.571C>T (p.Gln191Ter)
|
|
|
NM_000784.4(CYP27A1):c.67dup (p.His23fs)
|
rs1559384522
|
|
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs)
|
rs1559392634
|
|
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter)
|
rs587778810
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)
|
rs587778812
|
|
NM_000784.4(CYP27A1):c.844+1G>T
|
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)
|
rs398123538
|
|
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs)
|
rs587783011
|
|
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)
|
|
|
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)
|
rs750962965
|
|
NM_001023570.4(IQCB1):c.758del (p.Cys253fs)
|
rs770441610
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs)
|
rs772827691
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs)
|
rs1553125243
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)
|
rs376790729
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)
|
rs587780088
|
|
NM_001048174.2(MUTYH):c.224G>A (p.Trp75Ter)
|
rs1553130185
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.228C>G (p.Tyr76Ter)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.274del (p.Glu92fs)
|
rs786203213
|
|
NM_001048174.2(MUTYH):c.305-1G>A
|
rs372267274
|
|
NM_001048174.2(MUTYH):c.305-2A>G
|
rs863224452
|
|
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg)
|
rs730881832
|
|
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)
|
rs876660190
|
|
NM_001048174.2(MUTYH):c.384G>A (p.Trp128Ter)
|
rs2149161607
|
|
NM_001048174.2(MUTYH):c.420+19_420+31del
|
rs781222233
|
|
NM_001048174.2(MUTYH):c.438G>A (p.Trp146Ter)
|
rs1570423722
|
|
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
|
rs143353451
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
|
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)
|
rs761468459
|
|
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter)
|
rs749196764
|
|
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)
|
rs121908572
|
|
NM_001079866.2(BCS1L):c.320+1G>T
|
rs386833856
|
|
NM_001079866.2(BCS1L):c.399del (p.Glu133fs)
|
rs751484879
|
|
NM_001079866.2(BCS1L):c.821del (p.Pro274fs)
|
rs760559534
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)
|
rs769148365
|
|
NM_001127649.3(PEX26):c.192_216del (p.Ser64fs)
|
|
|
NM_001127649.3(PEX26):c.230+1G>A
|
|
|
NM_001127649.3(PEX26):c.230+1G>T
|
rs267608190
|
|
NM_001127649.3(PEX26):c.34del (p.Leu12fs)
|
rs61752129
|
|
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)
|
rs61752129
|
|
NM_001127649.3(PEX26):c.436C>T (p.Gln146Ter)
|
|
|
NM_001127671.2(LIFR):c.503C>G (p.Ser168Ter)
|
rs779829941
|
|
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)
|
rs1017750255
|
|
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.625-2A>G
|
|
|
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)
|
|
|
NM_001129.5(AEBP1):c.1067G>A (p.Trp356Ter)
|
rs2096226168
|
|
NM_001129.5(AEBP1):c.2853C>A (p.Tyr951Ter)
|
rs2096232673
|
|
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)
|
rs863225146
|
|
NM_001171.6(ABCC6):c.4209-2A>C
|
rs1555506740
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT
|
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter)
|
rs1554834161
|
|
NM_001267550.2(TTN):c.107224-1G>C
|
rs112720067
|
|
NM_001267550.2(TTN):c.15496+1G>T
|
rs397517481
|
|
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs)
|
rs794729340
|
|
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)
|
rs1698600051
|
|
NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter)
|
rs2037147164
|
|
NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter)
|
rs2145434954
|
|
NM_001287.6(CLCN7):c.2385_2386del (p.Gly796fs)
|
rs2142364275
|
|
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)
|
rs61752138
|
|
NM_001378454.1(ALMS1):c.3729_3730del (p.Lys1244fs)
|
|
|
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
|
rs28730854
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs)
|
rs755739341
|
|
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)
|
rs199469706
|
|
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter)
|
rs1168400018
|
|
NM_001384140.1(PCDH15):c.158-1G>A
|
rs876657418
|
|
NM_001384140.1(PCDH15):c.1737C>A (p.Tyr579Ter)
|
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.17dup (p.Tyr6Ter)
|
|
|
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)
|
rs1057517261
|
|
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
|
|
|
NM_001384140.1(PCDH15):c.1998-2A>G
|
rs397517452
|
|
NM_001384140.1(PCDH15):c.2630T>A (p.Leu877Ter)
|
rs2092876200
|
|
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer)
|
rs1589950125
|
|
NM_001384140.1(PCDH15):c.2782A>T (p.Lys928Ter)
|
|
|
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)
|
rs770832663
|
|
NM_001384140.1(PCDH15):c.3661C>T (p.Gln1221Ter)
|
rs1589156388
|
|
NM_001384140.1(PCDH15):c.3717+1G>A
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3717+1G>T
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs)
|
rs1554833249
|
|
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs)
|
rs2134714165
|
|
NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer)
|
rs2135421905
|
|
NM_001386140.1(MTTP):c.2578G>T (p.Glu860Ter)
|
rs1726269709
|
|
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)
|
rs587777534
|
|
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)
|
rs1000091588
|
|
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)
|
rs368775789
|
|
NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs)
|
rs1131691657
|
|
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)
|
rs80338826
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
|
|
|
NM_002617.4(PEX10):c.337del (p.Leu113fs)
|
rs724159999
|
|
NM_002617.4(PEX10):c.4del (p.Ala2fs)
|
rs62636524
|
|
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)
|
rs62641225
|
|
NM_002617.4(PEX10):c.881G>A (p.Trp294Ter)
|
|
|
NM_003504.5(CDC45):c.326_329dup (p.Asn111fs)
|
rs752023208
|
|
NM_003801.4(GPAA1):c.319_320del (p.Ser107fs)
|
rs1835941699
|
|
NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs)
|
rs770642379
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004153.4(ORC1):c.237del (p.Pro80fs)
|
rs1647490038
|
|
NM_004373.4(COX6A1):c.247-7_247-3del
|
rs587777783
|
|
NM_004836.7(EIF2AK3):c.1563G>A (p.Trp521Ter)
|
|
|
NM_004836.7(EIF2AK3):c.1912C>T (p.Arg638Ter)
|
|
|
NM_004836.7(EIF2AK3):c.2729_2732del (p.Glu910fs)
|
|
|
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)
|
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
NM_004937.3(CTNS):c.206_210del (p.Ile69fs)
|
rs879758262
|
|
NM_004937.3(CTNS):c.225+3A>T
|
|
|
NM_004937.3(CTNS):c.292dup (p.Thr98fs)
|
rs786204434
|
|
NM_004937.3(CTNS):c.314_317del (p.His105fs)
|
|
|
NM_004937.3(CTNS):c.323del (p.Gln108fs)
|
rs879255615
|
|
NM_004937.3(CTNS):c.329+2T>C
|
rs955833453
|
|
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)
|
rs1555558099
|
|
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)
|
rs1436441738
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)
|
rs1597654770
|
|
NM_004937.3(CTNS):c.61+5G>A
|
rs1407498555
|
|
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)
|
rs760256854
|
|
NM_004937.3(CTNS):c.61_61+2del
|
rs2075652654
|
|
NM_004937.3(CTNS):c.681G>A (p.Glu227=)
|
rs778414542
|
|
NM_004937.3(CTNS):c.682-1G>T
|
rs1057516771
|
|
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)
|
rs1555563982
|
|
NM_004937.3(CTNS):c.696dup (p.Val233fs)
|
rs113994209
|
|
NM_004937.3(CTNS):c.699_700del (p.Ser234fs)
|
rs766981777
|
|
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)
|
rs763089013
|
|
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)
|
rs759623796
|
|
NM_004937.3(CTNS):c.809_811del (p.Ser270del)
|
rs786204632
|
|
NM_004937.3(CTNS):c.829dup (p.Thr277fs)
|
rs752919200
|
|
NM_004937.3(CTNS):c.853-2A>G
|
rs1475322504
|
|
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)
|
rs776842972
|
|
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)
|
rs917630768
|
|
NM_004937.3(CTNS):c.926dup (p.Ser310fs)
|
rs786204420
|
|
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)
|
rs121908128
|
|
NM_004937.3(CTNS):c.971-12G>A
|
rs375952052
|
|
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)
|
rs104894478
|
|
NM_006019.4(TCIRG1):c.1037_1040dup (p.Val348fs)
|
|
|
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter)
|
rs776436008
|
|
NM_006019.4(TCIRG1):c.117+4A>T
|
rs751881962
|
|
NM_006019.4(TCIRG1):c.1230del (p.Leu411fs)
|
rs2134454279
|
|
NM_006019.4(TCIRG1):c.1348_1376dup (p.Phe459fs)
|
rs747511049
|
|
NM_006019.4(TCIRG1):c.1536C>A (p.Tyr512Ter)
|
|
|
NM_006019.4(TCIRG1):c.1674-1G>C
|
|
|
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)
|
rs1855655612
|
|
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)
|
rs1300297240
|
|
NM_006019.4(TCIRG1):c.196+1G>T
|
rs2134432498
|
|
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del)
|
rs780311417
|
|
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs)
|
rs1565164499
|
|
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)
|
rs748659068
|
|
NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)
|
|
|
NM_006019.4(TCIRG1):c.2383_2384del (p.Ala796fs)
|
rs1346704603
|
|
NM_006019.4(TCIRG1):c.504-6C>A
|
rs1028394725
|
|
NM_006019.4(TCIRG1):c.630+2T>C
|
rs1392364437
|
|
NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)
|
|
|
NM_006019.4(TCIRG1):c.797del (p.Glu266fs)
|
rs1431956318
|
|
NM_006118.4(HAX1):c.383C>G (p.Ser128Ter)
|
rs1398108109
|
|
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs)
|
rs1595286986
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
|
rs80358260
|
|
NM_007254.4(PNKP):c.1227_1228del (p.Cys409_Glu410delinsTer)
|
rs1477525034
|
|
NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter)
|
rs1558792256
|
|
NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter)
|
rs1558782178
|
|
NM_012448.4(STAT5B):c.1924A>C (p.Asn642His)
|
rs938448224
|
|
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)
|
rs786204416
|
|
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)
|
rs779338945
|
|
NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs)
|
|
|
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
|
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.11601_11604del (p.Lys3867fs)
|
|
|
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs)
|
rs1593121924
|
|
NM_014363.6(SACS):c.1189dup (p.Ser397fs)
|
|
|
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)
|
rs141315518
|
|
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)
|
rs1057516365
|
|
NM_014363.6(SACS):c.12529dup (p.Tyr4177fs)
|
|
|
NM_014363.6(SACS):c.12839del (p.Phe4280fs)
|
rs1197238841
|
|
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)
|
rs786204628
|
|
NM_014363.6(SACS):c.13319C>A (p.Ser4440Ter)
|
|
|
NM_014363.6(SACS):c.1769_1770del (p.Val590fs)
|
rs1383333220
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.237dup (p.Ser80fs)
|
rs770311689
|
|
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)
|
rs1593133395
|
|
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)
|
rs1259615333
|
|
NM_014363.6(SACS):c.2938_2939del (p.Met980fs)
|
rs1593133306
|
|
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)
|
rs770866403
|
|
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter)
|
rs199474695
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
NM_014363.6(SACS):c.4233_4236del (p.Leu1412fs)
|
|
|
NM_014363.6(SACS):c.429_430del (p.Trp144fs)
|
|
|
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
|
rs770901638
|
|
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
|
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)
|
rs1485209013
|
|
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
|
rs773754134
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)
|
rs770490672
|
|
NM_014363.6(SACS):c.6837dup (p.Glu2280fs)
|
rs748765057
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.7255_7259del (p.Glu2419fs)
|
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.8239dup (p.Ile2747fs)
|
|
|
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
|
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
|
rs1175545518
|
|
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter)
|
rs1581930130
|
|
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)
|
rs797045067
|
|
NM_015046.7(SETX):c.6215_6216del (p.Glu2072fs)
|
rs1564492117
|
|
NM_015261.3(NCAPD3):c.3278_3281del (p.Lys1093fs)
|
rs773824610
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs)
|
rs386834002
|
|
NM_015294.6(TRIM37):c.1999C>T (p.Arg667Ter)
|
|
|
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter)
|
rs386834003
|
|
NM_015294.6(TRIM37):c.2377_2378del (p.Leu793fs)
|
|
|
NM_015294.6(TRIM37):c.2437_2438insAT (p.Leu813fs)
|
|
|
NM_015294.6(TRIM37):c.447del (p.Lys149fs)
|
rs1197523487
|
|
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter)
|
rs386834005
|
|
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs)
|
rs386834007
|
|
NM_015311.3(OBSL1):c.2474del (p.Val825fs)
|
rs1057518716
|
|
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)
|
rs118204047
|
|
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)
|
|
|
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)
|
rs886039425
|
|
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)
|
rs397509361
|
|
NM_015895.5(GMNN):c.16A>T (p.Lys6Ter)
|
rs864309486
|
|
NM_015895.5(GMNN):c.35_38del (p.Ile12fs)
|
rs864309487
|
|
NM_016038.2(SBDS):c.625-1delG
|
rs1792914342
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
NM_016219.5(MAN1B1):c.1444C>T (p.Gln482Ter)
|
rs1831100789
|
|
NM_016219.5(MAN1B1):c.1445+2_1445+5del
|
rs1831100970
|
|
NM_016373.4(WWOX):c.107+1G>A
|
rs1300924648
|
|
NM_017721.5(CC2D1A):c.748+1G>T
|
rs876657679
|
|
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)
|
rs1377452635
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer)
|
rs386834047
|
|
NM_017777.4(MKS1):c.417+1G>A
|
rs756368560
|
|
NM_017875.4(SLC25A38):c.70-2A>C
|
rs1233124208
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter)
|
rs1451306414
|
|
NM_018136.5(ASPM):c.9286C>T (p.Arg3096Ter)
|
rs774143329
|
|
NM_018255.4(ELP2):c.293dup (p.Leu98fs)
|
rs529659464
|
|
NM_018451.5(CENPJ):c.1434del (p.Lys479fs)
|
rs1954548327
|
|
NM_018451.5(CENPJ):c.2117_2118del (p.Asp705_Ser706insTer)
|
rs761856922
|
|
NM_018718.3(CEP41):c.34-2A>G
|
rs1797714974
|
|
NM_020066.5(FMN2):c.1550del (p.Pro517fs)
|
rs1390970926
|
|
NM_020066.5(FMN2):c.1618C>T (p.Arg540Ter)
|
rs1247510585
|
|
NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter)
|
rs1320473430
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter)
|
rs1568133760
|
|
NM_021942.6(TRAPPC11):c.1568-1G>T
|
rs1180079162
|
|
NM_021942.6(TRAPPC11):c.2625del (p.His875fs)
|
rs1736442342
|
|
NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs)
|
rs771717941
|
|
NM_022089.4(ATP13A2):c.1045_1046del (p.Ser349fs)
|
|
|
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs)
|
rs753460205
|
|
NM_022095.4(ZNF335):c.3787G>T (p.Glu1263Ter)
|
rs749190523
|
|
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=)
|
rs1292050472
|
|
NM_022464.5(SIL1):c.1321G>T (p.Glu441Ter)
|
|
|
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
|
|
|
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)
|
rs398124395
|
|
NM_024649.5(BBS1):c.1340-1G>T
|
rs1555049893
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
|
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter)
|
rs1012901050
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter)
|
rs2134771570
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
NM_024649.5(BBS1):c.48-1G>A
|
rs751753112
|
|
NM_024649.5(BBS1):c.480-1G>C
|
rs1057516933
|
|
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer)
|
rs2134780429
|
|
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)
|
rs778850233
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+1G>T
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+58C>T
|
rs1856346961
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter)
|
rs778731343
|
|
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)
|
rs759682922
|
|
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)
|
rs898539189
|
|
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)
|
rs886043841
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)
|
rs1565809478
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)
|
rs1565809409
|
|
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
|
|
|
NM_024685.4(BBS10):c.2030del (p.Gly677fs)
|
rs1064796315
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.310_311del (p.Glu104fs)
|
rs2136091244
|
|
NM_024685.4(BBS10):c.39_46del (p.Ala14fs)
|
rs1555202806
|
|
NM_024685.4(BBS10):c.445dup (p.Leu149fs)
|
rs770053320
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)
|
rs1476664656
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)
|
rs2136091654
|
|
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)
|
rs775517752
|
|
NM_025074.7(FRAS1):c.8922del (p.Asp2975fs)
|
|
|
NM_025114.4(CEP290):c.1189+1G>A
|
rs2039659434
|
|
NM_025114.4(CEP290):c.1189+2T>C
|
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_025114.4(CEP290):c.1451del (p.Lys484fs)
|
rs386834149
|
|
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1623+1G>A
|
rs863225186
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter)
|
rs1272411609
|
|
NM_025114.4(CEP290):c.180+1G>T
|
|
|
NM_025114.4(CEP290):c.1830del (p.Glu610fs)
|
rs992032116
|
|
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs)
|
rs766608755
|
|
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs)
|
rs1033594764
|
|
NM_025114.4(CEP290):c.1910-11T>G
|
rs1555220638
|
|
NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter)
|
rs2038919221
|
|
NM_025114.4(CEP290):c.1992del (p.Pro665fs)
|
rs770175184
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
NM_025114.4(CEP290):c.2112del (p.Val705fs)
|
rs863225183
|
|
NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)
|
|
|
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer)
|
rs2137720951
|
|
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs)
|
rs587783010
|
|
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)
|
rs753884599
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs)
|
rs1223251937
|
|
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)
|
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.270_274del (p.Lys90fs)
|
|
|
NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter)
|
rs1180594304
|
|
NM_025114.4(CEP290):c.3012del (p.Glu1005fs)
|
rs1555213204
|
|
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3310-1G>A
|
|
|
NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)
|
|
|
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs)
|
rs770474857
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)
|
rs2036824785
|
|
NM_025114.4(CEP290):c.384_385del (p.Asp128fs)
|
rs1288619268
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
|
rs761907569
|
|
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)
|
rs587783016
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)
|
rs1339975972
|
|
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs)
|
rs62640582
|
|
NM_025114.4(CEP290):c.4384del (p.Glu1462fs)
|
rs863225182
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
|
rs757309583
|
|
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)
|
rs62640574
|
|
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs)
|
rs2036318355
|
|
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)
|
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter)
|
|
|
NM_025114.4(CEP290):c.5046del (p.Lys1682_Val1683insTer)
|
|
|
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs)
|
rs757609119
|
|
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs)
|
rs749331348
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs)
|
rs281865187
|
|
NM_025114.4(CEP290):c.5519_5537del (p.Lys1840fs)
|
|
|
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
|
rs727503853
|
|
NM_025114.4(CEP290):c.5709+2T>G
|
|
|
NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter)
|
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
|
rs1592784618
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)
|
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
NM_025114.4(CEP290):c.6271-8T>G
|
rs1039146791
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
|
|
|
NM_025114.4(CEP290):c.679_680del (p.Glu227fs)
|
rs62640578
|
|
NM_025114.4(CEP290):c.6869del (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)
|
rs1592726020
|
|
NM_025114.4(CEP290):c.7027del (p.Val2343fs)
|
rs2033827549
|
|
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
|
rs2138086844
|
|
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7334dup (p.Leu2448fs)
|
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.828del (p.Glu277fs)
|
rs1555225566
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
|
rs193922710
|
|
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
|
rs1964267396
|
|
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)
|
rs1555521501
|
|
NM_031885.5(BBS2):c.1770del (p.Phe590fs)
|
rs193922711
|
|
NM_031885.5(BBS2):c.263del (p.Gly88fs)
|
rs869025206
|
|
NM_031885.5(BBS2):c.471+1G>A
|
rs1555523584
|
|
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
|
rs773417074
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_031885.5(BBS2):c.940del (p.Ile314fs)
|
rs587777824
|
|
NM_031885.5(BBS2):c.941-1G>T
|
rs777234811
|
|
NM_033028.5(BBS4):c.1248+2T>C
|
rs2151055229
|
|
NM_033028.5(BBS4):c.157-2A>G
|
rs113994192
|
|
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)
|
rs886039802
|
|
NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)
|
|
|
NM_033028.5(BBS4):c.332+2_332+3insTT
|
rs753360929
|
|
NM_033028.5(BBS4):c.514dup (p.Ile172fs)
|
|
|
NM_033109.5(PNPT1):c.298-2A>T
|
rs1478363532
|
|
NM_033109.5(PNPT1):c.918del (p.Val307fs)
|
rs1696930196
|
|
NM_033629.6(TREX1):c.212_213del (p.Val71fs)
|
rs74689946
|
|
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup)
|
rs77371662
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
NM_138694.4(PKHD1):c.1057C>T (p.Gln353Ter)
|
|
|
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
|
rs752889346
|
|
NM_138694.4(PKHD1):c.10756_10759del (p.Asn3586fs)
|
rs1195276132
|
|
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter)
|
rs780182068
|
|
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)
|
rs1554183235
|
|
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs)
|
rs765390756
|
|
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs)
|
rs1057517047
|
|
NM_138694.4(PKHD1):c.11026G>T (p.Gly3676Ter)
|
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
NM_138694.4(PKHD1):c.11776del (p.Val3926fs)
|
rs1057517324
|
|
NM_138694.4(PKHD1):c.1233+1G>A
|
rs886061623
|
|
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1529del (p.Gly510fs)
|
rs1807855713
|
|
NM_138694.4(PKHD1):c.1602+1G>A
|
rs398124476
|
|
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs)
|
rs1554216499
|
|
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs)
|
rs777295562
|
|
NM_138694.4(PKHD1):c.1693+1G>T
|
rs2128209217
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.2140+1G>A
|
rs1554213853
|
|
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)
|
rs398124480
|
|
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
|
rs755183117
|
|
NM_138694.4(PKHD1):c.3229-2A>C
|
rs1057516872
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.390+1G>A
|
rs752327566
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.4105dup (p.Arg1369fs)
|
rs1581810497
|
|
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)
|
rs398124486
|
|
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)
|
rs267601070
|
|
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
|
|
|
NM_138694.4(PKHD1):c.5476del (p.Ala1826fs)
|
|
|
NM_138694.4(PKHD1):c.5751+3A>G
|
rs1581726525
|
|
NM_138694.4(PKHD1):c.5752-2A>G
|
rs1057516407
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.602+1G>A
|
rs1554223950
|
|
NM_138694.4(PKHD1):c.6209G>A (p.Trp2070Ter)
|
|
|
NM_138694.4(PKHD1):c.6210G>A (p.Trp2070Ter)
|
|
|
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs)
|
rs910497248
|
|
NM_138694.4(PKHD1):c.6333-2A>G
|
|
|
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer)
|
rs1405067373
|
|
NM_138694.4(PKHD1):c.6437_6440del (p.Thr2146fs)
|
|
|
NM_138694.4(PKHD1):c.6469C>T (p.Gln2157Ter)
|
|
|
NM_138694.4(PKHD1):c.6809-2A>G
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter)
|
rs1583295819
|
|
NM_138694.4(PKHD1):c.6865+1G>A
|
|
|
NM_138694.4(PKHD1):c.7060C>T (p.Gln2354Ter)
|
|
|
NM_138694.4(PKHD1):c.7062del (p.Ala2355fs)
|
rs1583203255
|
|
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs)
|
rs1554289495
|
|
NM_138694.4(PKHD1):c.7149G>A (p.Trp2383Ter)
|
rs757590581
|
|
NM_138694.4(PKHD1):c.731G>A (p.Trp244Ter)
|
rs1582085757
|
|
NM_138694.4(PKHD1):c.7396G>T (p.Glu2466Ter)
|
|
|
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter)
|
rs769645972
|
|
NM_138694.4(PKHD1):c.7912-2A>G
|
rs1554271235
|
|
NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)
|
|
|
NM_138694.4(PKHD1):c.7_19del (p.Ala3fs)
|
|
|
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs)
|
rs774050795
|
|
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter)
|
rs1473182306
|
|
NM_138694.4(PKHD1):c.8302+2T>C
|
rs2151510946
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
|
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter)
|
rs1229564017
|
|
NM_138694.4(PKHD1):c.8909_8912del (p.Phe2970fs)
|
rs1473686155
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.9455del (p.Asn3152fs)
|
|
|
NM_138694.4(PKHD1):c.9568C>T (p.Gln3190Ter)
|
|
|
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
|
rs146649803
|
|
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs)
|
rs1562221540
|
|
NM_138694.4(PKHD1):c.9830-2A>G
|
rs890681861
|
|
NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer)
|
rs1471916487
|
|
NM_152618.3(BBS12):c.1082del (p.Gly361fs)
|
rs1057517193
|
|
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
|
rs587777803
|
|
NM_152618.3(BBS12):c.1372dup (p.Thr458fs)
|
rs1195341481
|
|
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)
|
rs755314355
|
|
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)
|
rs2150737598
|
|
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)
|
rs759455327
|
|
NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter)
|
rs1800931751
|
|
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)
|
rs1560708847
|
|
NM_152618.3(BBS12):c.2019del (p.Trp673fs)
|
rs2150738027
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
NM_152618.3(BBS12):c.695_731del (p.Ile232fs)
|
|
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388
|
|
NM_153676.4(USH1C):c.238del (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.348_373del (p.His116fs)
|
rs2133917820
|
|
NM_153676.4(USH1C):c.388-1G>A
|
rs1364331716
|
|
NM_153676.4(USH1C):c.496+1G>A
|
rs138138689
|
|
NM_153676.4(USH1C):c.496+1G>T
|
rs138138689
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
NM_170784.3(MKKS):c.775del (p.Thr259fs)
|
rs759131391
|
|
NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter)
|
rs74315397
|
|
NM_173551.5(ANKS6):c.907+2T>A
|
rs1438673595
|
|
NM_176824.3(BBS7):c.1002del (p.Asn335fs)
|
rs762782183
|
|
NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter)
|
rs1726067442
|
|
NM_176824.3(BBS7):c.1306-1_1308del
|
|
|
NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)
|
|
|
NM_176824.3(BBS7):c.1579dup (p.Cys527fs)
|
|
|
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)
|
rs878853352
|
|
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)
|
rs672601379
|
|
NM_176824.3(BBS7):c.288_289del (p.Gly97fs)
|
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)
|
rs137852858
|
|
NM_198428.3(BBS9):c.1277_1280del
|
rs2128646927
|
|
NM_198428.3(BBS9):c.1789+1G>A
|
rs201938124
|
|
NM_198428.3(BBS9):c.1789+1G>C
|
|
|
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter)
|
rs948418225
|
|
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
|
rs606231137
|
|
NM_198428.3(BBS9):c.310del (p.Cys104fs)
|
rs747388658
|
|
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs)
|
rs786200899
|
|
NM_203486.3(DLL3):c.618del (p.Cys207fs)
|
rs786200902
|
|
NM_206933.4(USH2A):c.532dup (p.Thr178fs)
|
rs1571801788
|
|
NR_023317.1(RNU7-1):n.28C>T
|
rs180837208
|
|