NM_000277.3(PAH):c.60+62C>T
|
rs1522296
|
0.34408
|
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala)
|
rs36117895
|
0.03931
|
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)
|
rs114234874
|
0.02502
|
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)
|
rs41278174
|
0.01708
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)
|
rs200988634
|
0.00927
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
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_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
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_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)
|
rs201342438
|
0.00263
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_001040694.2(INCENP):c.2415G>C (p.Gln805His)
|
rs61893682
|
0.00255
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
NM_000441.2(SLC26A4):c.*239C>T
|
rs113516368
|
0.00237
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)
|
rs72653756
|
0.00214
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)
|
rs2920791
|
0.00174
|
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)
|
rs75442795
|
0.00172
|
NM_015693.4(INTU):c.1354G>A (p.Ala452Thr)
|
rs150681845
|
0.00170
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NR_003051.3(RMRP):n.71A>G
|
rs199476103
|
0.00156
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_000372.5(TYR):c.650G>A (p.Arg217Gln)
|
rs61754365
|
0.00143
|
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln)
|
rs111033480
|
0.00142
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_002470.4(MYH3):c.-9+1G>A
|
rs557849165
|
0.00117
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00099
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)
|
rs138016359
|
0.00088
|
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)
|
rs150726175
|
0.00087
|
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_001081.4(CUBN):c.6821+2T>C
|
rs150901286
|
0.00083
|
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)
|
rs144139747
|
0.00081
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
|
rs114368325
|
0.00079
|
NM_000392.5(ABCC2):c.1967+1G>A
|
rs146405172
|
0.00078
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_001354587.1(ANKRD36):c.2479-1G>A
|
rs200852589
|
0.00076
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00071
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_005797.4(MPZL2):c.72del (p.Ile24fs)
|
rs752672077
|
0.00069
|
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr)
|
rs145369252
|
0.00068
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter)
|
rs200484521
|
0.00066
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)
|
rs143990563
|
0.00064
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_138691.3(TMC1):c.1763+3A>G
|
rs370898981
|
0.00056
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_003805.5(CRADD):c.509G>A (p.Arg170His)
|
rs141179774
|
0.00053
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_014994.3(MAPKBP1):c.3304C>T (p.Arg1102Cys)
|
rs141086610
|
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_001146079.2(CLDN14):c.488C>T (p.Ala163Val)
|
rs143797113
|
0.00046
|
NM_001378609.3(OTOGL):c.6019+5G>A
|
rs368712763
|
0.00046
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu)
|
rs145740834
|
0.00045
|
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)
|
rs149196615
|
0.00044
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_001218.5(CA12):c.908-1G>A
|
rs148438059
|
0.00043
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter)
|
rs576724182
|
0.00041
|
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)
|
rs200897773
|
0.00040
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_144672.4(OTOA):c.2120C>T (p.Ala707Val)
|
rs145160241
|
0.00038
|
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)
|
rs1004428835
|
0.00037
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser)
|
rs66864704
|
0.00036
|
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)
|
rs140076803
|
0.00036
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00036
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)
|
rs138000380
|
0.00035
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)
|
rs386833845
|
0.00033
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)
|
rs115209243
|
0.00031
|
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_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00029
|
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)
|
rs63159160
|
0.00029
|
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)
|
rs201759207
|
0.00029
|
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg)
|
rs201428088
|
0.00029
|
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter)
|
rs202058504
|
0.00029
|
NM_014321.4(ORC6):c.2T>C (p.Met1Thr)
|
rs146795505
|
0.00028
|
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
|
rs80356540
|
0.00028
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
0.00027
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu)
|
rs143828923
|
0.00026
|
NM_020631.6(PLEKHG5):c.440-2A>G
|
rs144750655
|
0.00026
|
NM_022124.6(CDH23):c.2587+35C>T
|
rs186492861
|
0.00026
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269
|
0.00025
|
NM_170784.3(MKKS):c.250C>T (p.His84Tyr)
|
rs281797258
|
0.00025
|
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)
|
rs199766465
|
0.00025
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
NM_014672.4(PRORP):c.1235A>G (p.Asn412Ser)
|
rs148259590
|
0.00024
|
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln)
|
rs117071200
|
0.00024
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)
|
rs376823382
|
0.00022
|
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)
|
rs147875659
|
0.00022
|
NM_005797.4(MPZL2):c.544C>T (p.Arg182Ter)
|
rs200462584
|
0.00022
|
NM_017433.5(MYO3A):c.1463G>A (p.Gly488Glu)
|
rs145970949
|
0.00022
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00021
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_182920.2(ADAMTS9):c.194C>G (p.Thr65Arg)
|
rs192420947
|
0.00021
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter)
|
rs138593211
|
0.00020
|
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His)
|
rs201088712
|
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_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
|
rs61750168
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)
|
rs142773283
|
0.00019
|
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter)
|
rs142746163
|
0.00019
|
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)
|
rs374144275
|
0.00019
|
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)
|
rs199952377
|
0.00019
|
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)
|
rs397515338
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)
|
rs144948296
|
0.00018
|
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)
|
rs374963432
|
0.00018
|
NM_000372.5(TYR):c.915C>A (p.Asp305Glu)
|
rs142170797
|
0.00017
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter)
|
rs201442213
|
0.00017
|
NM_003937.3(KYNU):c.256dup (p.Tyr86fs)
|
rs550079487
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00016
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00016
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp)
|
rs369359789
|
0.00016
|
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)
|
rs143141689
|
0.00016
|
NM_014321.4(ORC6):c.449+5G>A
|
rs572314014
|
0.00016
|
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)
|
rs140611214
|
0.00016
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)
|
rs145141656
|
0.00016
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
NR_003051.4(RMRP):n.6C>T
|
rs772443941
|
0.00016
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)
|
rs747026964
|
0.00015
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
|
rs79436363
|
0.00015
|
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)
|
rs375014127
|
0.00015
|
NR_003051.4(RMRP):n.240C>T
|
rs749667892
|
0.00015
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)
|
rs757475924
|
0.00014
|
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter)
|
rs121913015
|
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_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
NM_001080442.3(SLC38A8):c.388+5G>A
|
rs760391436
|
0.00014
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)
|
rs141774369
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_018136.5(ASPM):c.9294+2T>C
|
rs199503603
|
0.00014
|
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)
|
rs142073798
|
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_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)
|
rs139364109
|
0.00013
|
NM_004407.4(DMP1):c.135+1G>T
|
rs141480996
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)
|
rs201650281
|
0.00013
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00013
|
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)
|
rs111033330
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)
|
rs767528365
|
0.00012
|
NM_003052.5(SLC34A1):c.1449G>A (p.Ser483=)
|
rs561557630
|
0.00012
|
NM_006736.6(DNAJB2):c.230-2A>G
|
rs369661561
|
0.00012
|
NM_017872.5(THG1L):c.164T>C (p.Val55Ala)
|
rs201920319
|
0.00012
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)
|
rs758217005
|
0.00012
|
NM_213599.3(ANO5):c.2273G>A (p.Arg758His)
|
rs369058382
|
0.00012
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)
|
rs376968326
|
0.00011
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)
|
rs377025174
|
0.00011
|
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln)
|
rs72653772
|
0.00011
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)
|
rs145522851
|
0.00011
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter)
|
rs144744629
|
0.00011
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)
|
rs373479905
|
0.00011
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
NM_018451.5(CENPJ):c.634G>T (p.Glu212Ter)
|
rs765113367
|
0.00011
|
NM_020632.3(ATP6V0A4):c.1029+5G>A
|
rs147476317
|
0.00011
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)
|
rs751084512
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)
|
rs397508276
|
0.00010
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_001194998.2(CEP152):c.3249del (p.Val1084fs)
|
rs754267846
|
0.00010
|
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His)
|
rs148920986
|
0.00010
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys)
|
rs540217942
|
0.00010
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
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_176824.3(BBS7):c.968A>G (p.His323Arg)
|
rs119466001
|
0.00010
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00010
|
NR_003051.4(RMRP):n.244A>G
|
rs551450545
|
0.00010
|
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr)
|
rs886043191
|
0.00009
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr)
|
rs762517273
|
0.00009
|
NM_000277.3(PAH):c.434A>T (p.Asp145Val)
|
rs140175796
|
0.00009
|
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
|
rs774130993
|
0.00009
|
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)
|
rs1429137932
|
0.00009
|
NM_000360.4(TH):c.1358G>A (p.Arg453His)
|
rs759599321
|
0.00009
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
|
rs118203957
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp)
|
rs141257714
|
0.00009
|
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His)
|
rs63750427
|
0.00009
|
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)
|
rs139805921
|
0.00009
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
NM_001378609.3(OTOGL):c.236-2A>G
|
rs766564988
|
0.00009
|
NM_001382391.1(CSPP1):c.2128+1G>A
|
rs199791452
|
0.00009
|
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg)
|
rs121964881
|
0.00009
|
NM_002454.3(MTRR):c.1769+1G>A
|
rs778738842
|
0.00009
|
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)
|
rs762742204
|
0.00009
|
NM_003193.5(TBCE):c.100+1G>A
|
rs200356271
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
0.00009
|
NM_006118.4(HAX1):c.317-2A>G
|
rs371504152
|
0.00009
|
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)
|
rs758719669
|
0.00009
|
NM_006618.5(KDM5B):c.2474+1G>A
|
rs542983923
|
0.00009
|
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys)
|
rs140540222
|
0.00009
|
NM_016038.4(SBDS):c.388G>A (p.Val130Met)
|
rs201070132
|
0.00009
|
NM_016239.4(MYO15A):c.6764+2T>A
|
rs763975867
|
0.00009
|
NM_022089.4(ATP13A2):c.477+2T>G
|
rs758014228
|
0.00009
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)
|
rs756147087
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_032119.4(ADGRV1):c.14973-2A>G
|
rs371981035
|
0.00009
|
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly)
|
rs137852950
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_194248.3(OTOF):c.4227+1G>T
|
rs397515601
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_206933.4(USH2A):c.4397-1G>A
|
rs199982344
|
0.00009
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00008
|
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_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_000372.5(TYR):c.613C>A (p.Pro205Thr)
|
rs61754362
|
0.00008
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)
|
rs139660235
|
0.00008
|
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)
|
rs144885874
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)
|
rs137853074
|
0.00008
|
NM_003937.3(KYNU):c.902+1G>A
|
rs754953201
|
0.00008
|
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)
|
rs104894407
|
0.00008
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)
|
rs376469502
|
0.00008
|
NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln)
|
rs772697259
|
0.00008
|
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)
|
rs374698153
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_177400.3(NKX6-2):c.541C>G (p.Leu181Val)
|
rs369901030
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
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_000518.5(HBB):c.389C>T (p.Ala130Val)
|
rs111645889
|
0.00007
|
NM_001017420.3(ESCO2):c.1132-7A>G
|
rs80359862
|
0.00007
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)
|
rs374538208
|
0.00007
|
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)
|
rs587776906
|
0.00007
|
NM_001171.6(ABCC6):c.2097G>T (p.Glu699Asp)
|
rs72653784
|
0.00007
|
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs)
|
rs751369871
|
0.00007
|
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)
|
rs137853150
|
0.00007
|
NM_006736.6(DNAJB2):c.175+2T>A
|
rs562669797
|
0.00007
|
NM_012208.4(HARS2):c.172A>G (p.Lys58Glu)
|
rs201392711
|
0.00007
|
NM_012414.4(RAB3GAP2):c.713-2A>G
|
rs797045103
|
0.00007
|
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)
|
rs121908121
|
0.00007
|
NM_052989.3(IFT122):c.272+1G>A
|
rs372483083
|
0.00007
|
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)
|
rs116802390
|
0.00007
|
NM_207361.6(FREM2):c.3661C>T (p.Pro1221Ser)
|
rs143192660
|
0.00007
|
NR_003051.3(RMRP):n.-22_-13dup
|
rs1554651507
|
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_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)
|
rs767106920
|
0.00006
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)
|
rs201736037
|
0.00006
|
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)
|
rs121434548
|
0.00006
|
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)
|
rs777685454
|
0.00006
|
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly)
|
rs200655479
|
0.00006
|
NM_000124.4(ERCC6):c.2599-26A>G
|
rs4253196
|
0.00006
|
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg)
|
rs137852618
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)
|
rs749747871
|
0.00006
|
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)
|
rs200416912
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00006
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)
|
rs72547561
|
0.00006
|
NM_000441.2(SLC26A4):c.-4+5G>A
|
rs727503425
|
0.00006
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)
|
rs111033316
|
0.00006
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00006
|
NM_000466.3(PEX1):c.2926+1G>A
|
rs267608179
|
0.00006
|
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)
|
rs397508272
|
0.00006
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)
|
rs397508636
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln)
|
rs143934667
|
0.00006
|
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)
|
rs776962899
|
0.00006
|
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00006
|
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu)
|
rs143353451
|
0.00006
|
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg)
|
rs587784543
|
0.00006
|
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00006
|
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met)
|
rs199545653
|
0.00006
|
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)
|
rs72653788
|
0.00006
|
NM_001171.6(ABCC6):c.2542del (p.Met848fs)
|
rs67867306
|
0.00006
|
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met)
|
rs63750459
|
0.00006
|
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln)
|
rs60791294
|
0.00006
|
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp)
|
rs374086268
|
0.00006
|
NM_001267550.2(TTN):c.39895+1G>T
|
rs749931280
|
0.00006
|
NM_001267550.2(TTN):c.39974-11T>G
|
rs758597536
|
0.00006
|
NM_001283009.2(RTEL1):c.3110-2A>T
|
rs377461417
|
0.00006
|
NM_001384474.1(LOXHD1):c.3061+1G>A
|
rs537227442
|
0.00006
|
NM_001384474.1(LOXHD1):c.4376-2A>G
|
rs886043616
|
0.00006
|
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)
|
rs763915229
|
0.00006
|
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg)
|
rs781734780
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met)
|
rs146919762
|
0.00006
|
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)
|
rs199883710
|
0.00006
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys)
|
rs756541797
|
0.00006
|
NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met)
|
rs200150908
|
0.00006
|
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)
|
rs137853151
|
0.00006
|
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
|
rs772544112
|
0.00006
|
NM_006642.5(SDCCAG8):c.740+356C>T
|
rs397515337
|
0.00006
|
NM_014026.6(DCPS):c.947C>T (p.Thr316Met)
|
rs137941190
|
0.00006
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp)
|
rs751375244
|
0.00006
|
NM_015602.4(TOR1AIP1):c.1427C>T (p.Ala476Val)
|
rs201518227
|
0.00006
|
NM_015910.7(WDPCP):c.209-1G>A
|
rs767481770
|
0.00006
|
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)
|
rs749136456
|
0.00006
|
NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser)
|
rs371730430
|
0.00006
|
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His)
|
rs141310608
|
0.00006
|
NM_018451.5(CENPJ):c.1696C>T (p.Arg566Ter)
|
rs138228629
|
0.00006
|
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)
|
rs780987516
|
0.00006
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
NM_022464.5(SIL1):c.1030-9G>A
|
rs370290043
|
0.00006
|
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)
|
rs752140135
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_033028.5(BBS4):c.1440dup (p.Leu481fs)
|
rs780269741
|
0.00006
|
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)
|
rs121908073
|
0.00006
|
NM_138691.3(TMC1):c.1114G>A (p.Val372Met)
|
rs367924428
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)
|
rs749294509
|
0.00006
|
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)
|
rs180675584
|
0.00006
|
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)
|
rs767072839
|
0.00006
|
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys)
|
rs757163581
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_153700.2(STRC):c.4219-1G>A
|
rs748854592
|
0.00006
|
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter)
|
rs147717802
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)
|
rs377750405
|
0.00006
|
NM_183065.4(TMEM107):c.*686A>G
|
rs201558321
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_206933.4(USH2A):c.1A>G (p.Met1Val)
|
rs924627806
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NR_003051.4(RMRP):n.37C>T
|
rs549085067
|
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_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)
|
rs371334239
|
0.00005
|
NM_000091.5(COL4A3):c.1992del (p.Gly665fs)
|
rs751677704
|
0.00005
|
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)
|
rs121917901
|
0.00005
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_000277.3(PAH):c.350C>T (p.Thr117Ile)
|
rs281865439
|
0.00005
|
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter)
|
rs104894172
|
0.00005
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)
|
rs62645908
|
0.00005
|
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter)
|
rs191912891
|
0.00005
|
NM_000426.4(LAMA2):c.5562+1G>A
|
rs376014152
|
0.00005
|
NM_000441.2(SLC26A4):c.165-1G>A
|
rs759792660
|
0.00005
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)
|
rs397508553
|
0.00005
|
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp)
|
rs61733615
|
0.00005
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp)
|
rs778769841
|
0.00005
|
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)
|
rs201454788
|
0.00005
|
NM_001101426.4(CRPPA):c.835+2T>C
|
rs773325665
|
0.00005
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu)
|
rs752509098
|
0.00005
|
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys)
|
rs767778853
|
0.00005
|
NM_001267550.2(TTN):c.36310G>T (p.Glu12104Ter)
|
rs1455879402
|
0.00005
|
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)
|
rs373118250
|
0.00005
|
NM_002693.3(POLG):c.3104+1G>A
|
rs138917386
|
0.00005
|
NM_004260.4(RECQL4):c.2650del (p.Gln884fs)
|
rs1203766600
|
0.00005
|
NM_004260.4(RECQL4):c.3072del (p.Val1026fs)
|
rs386833852
|
0.00005
|
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)
|
rs774265764
|
0.00005
|
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg)
|
rs34575645
|
0.00005
|
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00005
|
NM_016239.4(MYO15A):c.6046+1G>A
|
rs201978571
|
0.00005
|
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys)
|
rs374322839
|
0.00005
|
NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg)
|
rs374583073
|
0.00005
|
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp)
|
rs373971613
|
0.00005
|
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met)
|
rs578189699
|
0.00005
|
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro)
|
rs1468772495
|
0.00005
|
NM_020779.4(WDR35):c.2415-2A>G
|
rs143550695
|
0.00005
|
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)
|
rs199922550
|
0.00005
|
NM_022098.4(XPNPEP3):c.856-2A>G
|
rs149609214
|
0.00005
|
NM_024596.5(MCPH1):c.1974-2A>G
|
rs541042265
|
0.00005
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_025103.4(IFT74):c.1685-1G>T
|
rs200699377
|
0.00005
|
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln)
|
rs387906917
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)
|
rs769864196
|
0.00005
|
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)
|
rs527800020
|
0.00005
|
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
|
rs767068756
|
0.00005
|
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)
|
rs781180515
|
0.00005
|
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)
|
rs184351619
|
0.00005
|
NM_206933.4(USH2A):c.9286G>A (p.Val3096Met)
|
rs147267500
|
0.00005
|
NR_003051.3(RMRP):n.-19_-13dup
|
rs1554651506
|
0.00005
|
NC_000017.11:g.8002596T>C
|
rs774980016
|
0.00004
|
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)
|
rs727503795
|
0.00004
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00004
|
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)
|
rs370720208
|
0.00004
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00004
|
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)
|
rs369784333
|
0.00004
|
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)
|
rs528417986
|
0.00004
|
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)
|
rs143367518
|
0.00004
|
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)
|
rs148393161
|
0.00004
|
NM_000083.3(CLCN1):c.1167-10T>C
|
rs543120965
|
0.00004
|
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu)
|
rs745329674
|
0.00004
|
NM_000083.3(CLCN1):c.264G>A (p.Val88=)
|
rs759188441
|
0.00004
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter)
|
rs764046610
|
0.00004
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00004
|
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)
|
rs906755254
|
0.00004
|
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)
|
rs61749668
|
0.00004
|
NM_000211.5(ITGB2):c.897+1G>A
|
rs201752283
|
0.00004
|
NM_000231.3(SGCG):c.195+1G>C
|
rs200502077
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000254.3(MTR):c.250-1G>C
|
rs145939391
|
0.00004
|
NM_000260.4(MYO7A):c.1A>G (p.Met1Val)
|
rs797044518
|
0.00004
|
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)
|
rs797044516
|
0.00004
|
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
|
rs111033214
|
0.00004
|
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)
|
rs111033215
|
0.00004
|
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
|
rs377670513
|
0.00004
|
NM_000271.5(NPC1):c.1166G>A (p.Arg389His)
|
rs373751051
|
0.00004
|
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys)
|
rs145297180
|
0.00004
|
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys)
|
rs62644467
|
0.00004
|
NM_000277.3(PAH):c.1238G>A (p.Arg413His)
|
rs79931499
|
0.00004
|
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)
|
rs62516151
|
0.00004
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_000277.3(PAH):c.925G>T (p.Ala309Ser)
|
rs1205657950
|
0.00004
|
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)
|
rs62514957
|
0.00004
|
NM_000287.4(PEX6):c.2663G>A (p.Arg888His)
|
rs267608247
|
0.00004
|
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00004
|
NM_000317.3(PTS):c.164-672C>T
|
rs1030849527
|
0.00004
|
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
|
rs61751282
|
0.00004
|
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00004
|
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)
|
rs61751277
|
0.00004
|
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)
|
rs767635052
|
0.00004
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00004
|
NM_000360.4(TH):c.91-818G>A
|
rs753403788
|
0.00004
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)
|
rs62645916
|
0.00004
|
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp)
|
rs749979474
|
0.00004
|
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)
|
rs1031268531
|
0.00004
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_000400.4(ERCC2):c.1377+2T>C
|
rs201505264
|
0.00004
|
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)
|
rs121913021
|
0.00004
|
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)
|
rs121913018
|
0.00004
|
NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter)
|
rs151235136
|
0.00004
|
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr)
|
rs370454709
|
0.00004
|
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)
|
rs398123388
|
0.00004
|
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)
|
rs111033220
|
0.00004
|
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)
|
rs766206507
|
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_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)
|
rs61750425
|
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.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
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.533T>A (p.Ile178Asn)
|
rs749780769
|
0.00004
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_001031679.3(MSRB3):c.77-2A>G
|
rs145704693
|
0.00004
|
NM_001034852.3(SMOC1):c.584-2A>G
|
rs772178551
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001048174.2(MUTYH):c.421-2A>C
|
rs786203161
|
0.00004
|
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
|
rs372673338
|
0.00004
|
NM_001077418.3(TMEM231):c.438+5G>C
|
rs1472951348
|
0.00004
|
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter)
|
rs770749420
|
0.00004
|
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)
|
rs776838028
|
0.00004
|
NM_001082538.3(TCTN1):c.712+1G>A
|
rs200863258
|
0.00004
|
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
|
rs398123787
|
0.00004
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg)
|
rs74315438
|
0.00004
|
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys)
|
rs63749794
|
0.00004
|
NM_001171.6(ABCC6):c.600+1G>A
|
rs1187315015
|
0.00004
|
NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser)
|
rs775633137
|
0.00004
|
NM_001194998.2(CEP152):c.972+2T>A
|
rs766194658
|
0.00004
|
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)
|
rs200090033
|
0.00004
|
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met)
|
rs772040483
|
0.00004
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter)
|
rs772430523
|
0.00004
|
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)
|
rs756543273
|
0.00004
|
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)
|
rs751804613
|
0.00004
|
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)
|
rs150825781
|
0.00004
|
NM_001378609.3(OTOGL):c.3213+1G>A
|
rs370730786
|
0.00004
|
NM_001378609.3(OTOGL):c.63del (p.Leu22fs)
|
rs376104832
|
0.00004
|
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys)
|
rs561122654
|
0.00004
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter)
|
rs145536062
|
0.00004
|
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter)
|
rs200893951
|
0.00004
|
NM_003504.5(CDC45):c.1388C>T (p.Pro463Leu)
|
rs751663397
|
0.00004
|
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)
|
rs767178508
|
0.00004
|
NM_004004.6(GJB2):c.533T>C (p.Val178Ala)
|
rs568612627
|
0.00004
|
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter)
|
rs386833851
|
0.00004
|
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs)
|
rs771538008
|
0.00004
|
NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys)
|
rs752441031
|
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_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln)
|
rs140376902
|
0.00004
|
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys)
|
rs71532863
|
0.00004
|
NM_006005.3(WFS1):c.2293del (p.Cys765fs)
|
rs1381011685
|
0.00004
|
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)
|
rs369264588
|
0.00004
|
NM_006793.5(PRDX3):c.43C>T (p.Arg15Ter)
|
rs371560438
|
0.00004
|
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)
|
rs752941297
|
0.00004
|
NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys)
|
rs756363870
|
0.00004
|
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr)
|
rs1468358104
|
0.00004
|
NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn)
|
rs200089121
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_014956.5(CEP164):c.1669dup (p.Glu557fs)
|
rs749114363
|
0.00004
|
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)
|
rs562932233
|
0.00004
|
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)
|
rs149195472
|
0.00004
|
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs)
|
rs776470487
|
0.00004
|
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)
|
rs370210428
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter)
|
rs751128300
|
0.00004
|
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)
|
rs1277577195
|
0.00004
|
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)
|
rs774964432
|
0.00004
|
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)
|
rs1270302810
|
0.00004
|
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln)
|
rs368053088
|
0.00004
|
NM_016239.4(MYO15A):c.9517+2T>C
|
rs1322423998
|
0.00004
|
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)
|
rs761879076
|
0.00004
|
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
|
rs28940869
|
0.00004
|
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)
|
rs193919336
|
0.00004
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_018294.6(CWF19L1):c.349G>T (p.Glu117Ter)
|
rs201230582
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_020779.4(WDR35):c.1255+1G>A
|
rs371669862
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)
|
rs1051900223
|
0.00004
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys)
|
rs752143061
|
0.00004
|
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer)
|
rs587783735
|
0.00004
|
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter)
|
rs374596700
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_024989.4(PGAP1):c.2042del (p.Leu681fs)
|
rs756609752
|
0.00004
|
NM_025074.7(FRAS1):c.4843+2T>C
|
rs370018000
|
0.00004
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)
|
rs751290509
|
0.00004
|
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr)
|
rs372993798
|
0.00004
|
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)
|
rs766873519
|
0.00004
|
NM_031885.5(BBS2):c.534+1G>T
|
rs773862084
|
0.00004
|
NM_032040.5(CCDC8):c.963del (p.Ala323fs)
|
rs746873023
|
0.00004
|
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)
|
rs121909762
|
0.00004
|
NM_033629.6(TREX1):c.416del (p.Ala139fs)
|
rs763229085
|
0.00004
|
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)
|
rs199622112
|
0.00004
|
NM_133261.3(GIPC3):c.662C>T (p.Thr221Ile)
|
rs761543680
|
0.00004
|
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)
|
rs775224457
|
0.00004
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
0.00004
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val)
|
rs777976050
|
0.00004
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00004
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00004
|
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)
|
rs1412045164
|
0.00004
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)
|
rs137852924
|
0.00004
|
NM_147127.5(EVC2):c.229-2A>G
|
rs769799880
|
0.00004
|
NM_152384.3(BBS5):c.143-1G>C
|
rs1054138918
|
0.00004
|
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)
|
rs116733939
|
0.00004
|
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)
|
rs750366365
|
0.00004
|
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)
|
rs1450190654
|
0.00004
|
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu)
|
rs760831781
|
0.00004
|
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)
|
rs148670389
|
0.00004
|
NM_153676.4(USH1C):c.760-1G>T
|
rs1187887456
|
0.00004
|
NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu)
|
rs371994634
|
0.00004
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
|
rs754579374
|
0.00004
|
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys)
|
rs387906847
|
0.00004
|
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter)
|
rs202086317
|
0.00004
|
NM_203486.3(DLL3):c.945_946del (p.Ala317fs)
|
rs786200900
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
0.00004
|
NM_206933.4(USH2A):c.1972-1G>A
|
rs372927796
|
0.00004
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs)
|
rs769926034
|
0.00004
|
NM_213599.3(ANO5):c.1103C>T (p.Thr368Met)
|
rs760792371
|
0.00004
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
NR_003051.3(RMRP):n.-25_-3dup
|
rs1554651413
|
0.00004
|
NR_003051.3(RMRP):n.64C>T
|
rs786204684
|
0.00004
|
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
|
rs767412638
|
0.00003
|
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)
|
rs747714452
|
0.00003
|
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)
|
rs779439298
|
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_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
NM_000067.3(CA2):c.472A>G (p.Lys158Glu)
|
rs145667849
|
0.00003
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
NM_000070.3(CAPN3):c.1993-1G>A
|
rs369552114
|
0.00003
|
NM_000070.3(CAPN3):c.802-9G>A
|
rs761211705
|
0.00003
|
NM_000082.4(ERCC8):c.399+1G>A
|
rs774047625
|
0.00003
|
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)
|
rs80356703
|
0.00003
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg)
|
rs746125212
|
0.00003
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)
|
rs756231749
|
0.00003
|
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp)
|
rs772699709
|
0.00003
|
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg)
|
rs899227425
|
0.00003
|
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys)
|
rs757328549
|
0.00003
|
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)
|
rs771781694
|
0.00003
|
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met)
|
rs61749673
|
0.00003
|
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser)
|
rs137852616
|
0.00003
|
NM_000232.5(SGCB):c.85A>T (p.Arg29Ter)
|
rs747809412
|
0.00003
|
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter)
|
rs138695265
|
0.00003
|
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys)
|
rs781916427
|
0.00003
|
NM_000260.4(MYO7A):c.2905-1G>A
|
rs1171417339
|
0.00003
|
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)
|
rs750647872
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)
|
rs377515417
|
0.00003
|
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)
|
rs201156397
|
0.00003
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)
|
rs184148104
|
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.125A>G (p.Lys42Arg)
|
rs62635346
|
0.00003
|
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)
|
rs199475619
|
0.00003
|
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)
|
rs62514902
|
0.00003
|
NM_000277.3(PAH):c.2T>C (p.Met1Thr)
|
rs62508575
|
0.00003
|
NM_000277.3(PAH):c.428A>T (p.Asp143Val)
|
rs199475572
|
0.00003
|
NM_000277.3(PAH):c.516G>T (p.Gln172His)
|
rs192592111
|
0.00003
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
NM_000277.3(PAH):c.886G>A (p.Asp296Asn)
|
rs765934604
|
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_000287.4(PEX6):c.2735C>T (p.Ala912Val)
|
rs62641232
|
0.00003
|
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)
|
rs61753219
|
0.00003
|
NM_000288.4(PEX7):c.116A>C (p.His39Pro)
|
rs61753237
|
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.243_243+1dup
|
rs866922524
|
0.00003
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_000317.3(PTS):c.370G>T (p.Val124Leu)
|
rs150726932
|
0.00003
|
NM_000317.3(PTS):c.84-291A>G
|
rs1480995114
|
0.00003
|
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg)
|
rs757483045
|
0.00003
|
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)
|
rs61752905
|
0.00003
|
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val)
|
rs571740084
|
0.00003
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)
|
rs771351747
|
0.00003
|
NM_000360.4(TH):c.90+13G>A
|
rs77140743
|
0.00003
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
NM_000372.5(TYR):c.551C>G (p.Ser184Ter)
|
rs367543066
|
0.00003
|
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)
|
rs72547562
|
0.00003
|
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)
|
rs72547571
|
0.00003
|
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)
|
rs748057401
|
0.00003
|
NM_000426.4(LAMA2):c.2451-2A>G
|
rs993196576
|
0.00003
|
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)
|
rs201660407
|
0.00003
|
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)
|
rs747636919
|
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_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val)
|
rs540008835
|
0.00003
|
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)
|
rs61750427
|
0.00003
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
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.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His)
|
rs771336819
|
0.00003
|
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
|
rs120074122
|
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.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
NM_001034852.3(SMOC1):c.223C>T (p.Arg75Ter)
|
rs370866589
|
0.00003
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
NM_001048174.2(MUTYH):c.638G>A (p.Arg213Gln)
|
rs1060501346
|
0.00003
|
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)
|
rs149682171
|
0.00003
|
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)
|
rs376555896
|
0.00003
|
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
0.00003
|
NM_001083961.2(WDR62):c.3335+3A>G
|
rs587784554
|
0.00003
|
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)
|
rs781214034
|
0.00003
|
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)
|
rs200916654
|
0.00003
|
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)
|
rs148860301
|
0.00003
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys)
|
rs750066836
|
0.00003
|
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)
|
rs397514532
|
0.00003
|
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter)
|
rs267607137
|
0.00003
|
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln)
|
rs772434460
|
0.00003
|
NM_001171.6(ABCC6):c.3415G>A (p.Ala1139Thr)
|
rs63750146
|
0.00003
|
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp)
|
rs63750402
|
0.00003
|
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)
|
rs755459875
|
0.00003
|
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter)
|
rs779260568
|
0.00003
|
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter)
|
rs267606718
|
0.00003
|
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter)
|
rs979094623
|
0.00003
|
NM_001267550.2(TTN):c.40723+1G>T
|
rs371770198
|
0.00003
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter)
|
rs542074139
|
0.00003
|
NM_001267550.2(TTN):c.8902+1G>A
|
rs770392096
|
0.00003
|
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)
|
rs398123018
|
0.00003
|
NM_001283009.2(RTEL1):c.3376C>T (p.Gln1126Ter)
|
rs778734749
|
0.00003
|
NM_001283009.2(RTEL1):c.396-26C>T
|
rs80224512
|
0.00003
|
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter)
|
rs530874854
|
0.00003
|
NM_001329943.3(KIAA0586):c.411-1486G>A
|
rs982449380
|
0.00003
|
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro)
|
rs781053760
|
0.00003
|
NM_001378454.1(ALMS1):c.11669-2A>G
|
rs952110960
|
0.00003
|
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)
|
rs758195453
|
0.00003
|
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His)
|
rs752185665
|
0.00003
|
NM_001384474.1(LOXHD1):c.4212+5G>A
|
rs752553552
|
0.00003
|
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)
|
rs886044666
|
0.00003
|
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)
|
rs775267638
|
0.00003
|
NM_001384474.1(LOXHD1):c.760-2del
|
rs770408532
|
0.00003
|
NM_001814.6(CTSC):c.815G>A (p.Arg272His)
|
rs587777534
|
0.00003
|
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)
|
rs780594709
|
0.00003
|
NM_002292.4(LAMB2):c.249+1G>A
|
rs779317615
|
0.00003
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)
|
rs724160001
|
0.00003
|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter)
|
rs762396810
|
0.00003
|
NM_003193.5(TBCE):c.143_144del (p.Lys48fs)
|
rs758937799
|
0.00003
|
NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln)
|
rs1313593155
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_003504.5(CDC45):c.1021C>T (p.Arg341Trp)
|
rs540900837
|
0.00003
|
NM_003801.4(GPAA1):c.1165-1C>T
|
rs187027021
|
0.00003
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
|
rs371086981
|
0.00003
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser)
|
rs386833848
|
0.00003
|
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs)
|
rs752729755
|
0.00003
|
NM_004539.4(NARS1):c.50C>T (p.Thr17Met)
|
rs148893823
|
0.00003
|
NM_005529.7(HSPG2):c.4955+3A>T
|
rs769130391
|
0.00003
|
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)
|
rs397515411
|
0.00003
|
NM_006383.4(CIB2):c.300_309del (p.Glu100fs)
|
rs765741202
|
0.00003
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
NM_006642.5(SDCCAG8):c.1985+1G>T
|
rs752046196
|
0.00003
|
NM_006642.5(SDCCAG8):c.220+2T>C
|
rs757796329
|
0.00003
|
NM_012208.4(HARS2):c.598C>G (p.Leu200Val)
|
rs397515410
|
0.00003
|
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met)
|
rs753866301
|
0.00003
|
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter)
|
rs770582052
|
0.00003
|
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)
|
rs267606971
|
0.00003
|
NM_014026.6(DCPS):c.454C>T (p.Arg152Ter)
|
rs904572688
|
0.00003
|
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
|
rs267606821
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_014875.3(KIF14):c.3661+1G>T
|
rs151249558
|
0.00003
|
NM_015102.5(NPHP4):c.2611+1G>A
|
rs374141736
|
0.00003
|
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)
|
rs758275952
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1244-1G>T
|
rs1306595038
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2874+1G>C
|
rs753075262
|
0.00003
|
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg)
|
rs748436953
|
0.00003
|
NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys)
|
rs376296747
|
0.00003
|
NM_015662.3(IFT172):c.986C>T (p.Thr329Met)
|
rs568736482
|
0.00003
|
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter)
|
rs754637718
|
0.00003
|
NM_016166.3(PIAS1):c.317C>T (p.Ser106Leu)
|
rs774456004
|
0.00003
|
NM_016239.4(MYO15A):c.1651G>A (p.Ala551Thr)
|
rs747175448
|
0.00003
|
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter)
|
rs771720649
|
0.00003
|
NM_016356.5(DCDC2):c.829A>T (p.Lys277Ter)
|
rs775868003
|
0.00003
|
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys)
|
rs755588045
|
0.00003
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_017807.4(OSGEP):c.319G>A (p.Val107Met)
|
rs140583554
|
0.00003
|
NM_018075.5(ANO10):c.139+1G>T
|
rs777450156
|
0.00003
|
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter)
|
rs199422186
|
0.00003
|
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter)
|
rs368115694
|
0.00003
|
NM_018319.4(TDP1):c.910C>T (p.Arg304Ter)
|
rs370121773
|
0.00003
|
NM_018451.5(CENPJ):c.40C>T (p.Gln14Ter)
|
rs201822162
|
0.00003
|
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln)
|
rs767584322
|
0.00003
|
NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter)
|
rs374645146
|
0.00003
|
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)
|
rs772217003
|
0.00003
|
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs)
|
rs1252623454
|
0.00003
|
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter)
|
rs193922703
|
0.00003
|
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)
|
rs200649783
|
0.00003
|
NM_020921.4(NIN):c.6115C>T (p.Arg2039Ter)
|
rs373844676
|
0.00003
|
NM_021971.4(GMPPB):c.760G>A (p.Val254Met)
|
rs875989850
|
0.00003
|
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile)
|
rs397517340
|
0.00003
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
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_024649.5(BBS1):c.724-1G>C
|
rs748523268
|
0.00003
|
NM_024753.5(TTC21B):c.2758-2A>G
|
rs766132877
|
0.00003
|
NM_024753.5(TTC21B):c.3264-3C>G
|
rs189122492
|
0.00003
|
NM_024753.5(TTC21B):c.3664C>T (p.Arg1222Trp)
|
rs749330118
|
0.00003
|
NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter)
|
rs757311669
|
0.00003
|
NM_025074.7(FRAS1):c.8604+5G>A
|
rs200282443
|
0.00003
|
NM_031471.6(FERMT3):c.1312-2A>C
|
rs760261349
|
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_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter)
|
rs369793306
|
0.00003
|
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)
|
rs371947306
|
0.00003
|
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter)
|
rs749956288
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
NM_033629.6(TREX1):c.290G>A (p.Arg97His)
|
rs200773268
|
0.00003
|
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)
|
rs267607192
|
0.00003
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)
|
rs376040501
|
0.00003
|
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)
|
rs754626014
|
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.7430T>G (p.Phe2477Cys)
|
rs1366295189
|
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_147127.5(EVC2):c.264C>A (p.Cys88Ter)
|
rs965707319
|
0.00003
|
NM_147127.5(EVC2):c.3659+2T>C
|
rs200300612
|
0.00003
|
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter)
|
rs778909195
|
0.00003
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter)
|
rs765269619
|
0.00003
|
NM_153717.3(EVC):c.175-2A>G
|
rs767186464
|
0.00003
|
NM_170784.3(MKKS):c.749G>A (p.Gly250Glu)
|
rs972466774
|
0.00003
|
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln)
|
rs370716101
|
0.00003
|
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu)
|
rs1221499782
|
0.00003
|
NM_176824.3(BBS7):c.1654dup (p.Thr552fs)
|
rs773052355
|
0.00003
|
NM_182961.4(SYNE1):c.17682+1G>A
|
rs1064796579
|
0.00003
|
NM_182961.4(SYNE1):c.24129+2T>C
|
rs544985182
|
0.00003
|
NM_194248.3(OTOF):c.4799+1G>A
|
rs200147906
|
0.00003
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
0.00003
|
NM_206933.4(USH2A):c.15297+1G>C
|
rs767630412
|
0.00003
|
NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter)
|
rs1064793745
|
0.00003
|
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)
|
rs781668118
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)
|
rs766590491
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His)
|
rs183758503
|
0.00003
|
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln)
|
rs749698519
|
0.00003
|
NR_003051.3(RMRP):n.-14_-2dup13
|
rs1554651400
|
0.00003
|
NR_003051.3(RMRP):n.-20_1dup
|
rs1563907710
|
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.765A>T (p.Glu255Asp)
|
rs794727893
|
0.00002
|
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr)
|
rs755806238
|
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_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)
|
rs371784007
|
0.00002
|
NM_000070.3(CAPN3):c.1801-1G>A
|
rs886043752
|
0.00002
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
NM_000070.3(CAPN3):c.2440-1G>A
|
rs886044052
|
0.00002
|
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn)
|
rs80356697
|
0.00002
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00002
|
NM_000091.5(COL4A3):c.2535del (p.Leu846fs)
|
rs993103826
|
0.00002
|
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)
|
rs121912827
|
0.00002
|
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)
|
rs1346138010
|
0.00002
|
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs)
|
rs760846085
|
0.00002
|
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu)
|
rs1026613471
|
0.00002
|
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)
|
rs762139460
|
0.00002
|
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg)
|
rs937550597
|
0.00002
|
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg)
|
rs769783985
|
0.00002
|
NM_000124.4(ERCC6):c.2287-2A>G
|
rs754978734
|
0.00002
|
NM_000124.4(ERCC6):c.4063-1G>C
|
rs766980240
|
0.00002
|
NM_000124.4(ERCC6):c.422+1G>A
|
rs1198472093
|
0.00002
|
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)
|
rs751838040
|
0.00002
|
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)
|
rs188568530
|
0.00002
|
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)
|
rs756730335
|
0.00002
|
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys)
|
rs61749674
|
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_000232.5(SGCB):c.355A>T (p.Ile119Phe)
|
rs762412447
|
0.00002
|
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)
|
rs1242741686
|
0.00002
|
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)
|
rs782539587
|
0.00002
|
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)
|
rs781989117
|
0.00002
|
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)
|
rs111033233
|
0.00002
|
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)
|
rs554073390
|
0.00002
|
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)
|
rs782787126
|
0.00002
|
NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp)
|
rs866352637
|
0.00002
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180
|
0.00002
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)
|
rs747656448
|
0.00002
|
NM_000260.4(MYO7A):c.722G>A (p.Arg241His)
|
rs111033284
|
0.00002
|
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)
|
rs1346436537
|
0.00002
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)
|
rs202140203
|
0.00002
|
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)
|
rs753768576
|
0.00002
|
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)
|
rs120074132
|
0.00002
|
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)
|
rs758829443
|
0.00002
|
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
|
rs765729815
|
0.00002
|
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)
|
rs753419933
|
0.00002
|
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)
|
rs773941375
|
0.00002
|
NM_000277.3(PAH):c.1066-3C>T
|
rs62507344
|
0.00002
|
NM_000277.3(PAH):c.1136T>C (p.Val379Ala)
|
rs746203167
|
0.00002
|
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)
|
rs773526027
|
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.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.842+5G>A
|
rs62516146
|
0.00002
|
NM_000287.4(PEX6):c.1962-1G>A
|
rs267608229
|
0.00002
|
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln)
|
rs61753231
|
0.00002
|
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr)
|
rs374549180
|
0.00002
|
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)
|
rs779681799
|
0.00002
|
NM_000317.3(PTS):c.84-3C>G
|
rs1230781262
|
0.00002
|
NM_000320.3(QDPR):c.1A>T (p.Met1Leu)
|
rs1034528249
|
0.00002
|
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)
|
rs1420672586
|
0.00002
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
NM_000360.4(TH):c.1047+1G>C
|
rs1340482195
|
0.00002
|
NM_000360.4(TH):c.1061C>T (p.Ala354Val)
|
rs763039181
|
0.00002
|
NM_000360.4(TH):c.1189G>A (p.Gly397Arg)
|
rs1264884607
|
0.00002
|
NM_000360.4(TH):c.1388C>T (p.Thr463Met)
|
rs45471299
|
0.00002
|
NM_000360.4(TH):c.292C>T (p.Arg98Ter)
|
rs1057519220
|
0.00002
|
NM_000360.4(TH):c.364C>T (p.Arg122Ter)
|
rs771610752
|
0.00002
|
NM_000360.4(TH):c.644+1G>A
|
rs1266265578
|
0.00002
|
NM_000360.4(TH):c.787G>C (p.Gly263Arg)
|
rs755536257
|
0.00002
|
NM_000370.3(TTPA):c.205-2A>G
|
rs758349851
|
0.00002
|
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)
|
rs786204758
|
0.00002
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_000372.5(TYR):c.1037-1G>A
|
rs61754382
|
0.00002
|
NM_000372.5(TYR):c.121G>A (p.Gly41Arg)
|
rs369291837
|
0.00002
|
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)
|
rs72547573
|
0.00002
|
NM_000382.3(ALDH3A2):c.1443+1G>A
|
rs199548781
|
0.00002
|
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)
|
rs72547566
|
0.00002
|
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)
|
rs72547568
|
0.00002
|
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)
|
rs121908200
|
0.00002
|
NM_000400.4(ERCC2):c.1666-2A>T
|
rs199658345
|
0.00002
|
NM_000400.4(ERCC2):c.1758+1G>A
|
rs760834687
|
0.00002
|
NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val)
|
rs550705310
|
0.00002
|
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)
|
rs369776766
|
0.00002
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)
|
rs749566145
|
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.1667A>G (p.Tyr556Cys)
|
rs763006761
|
0.00002
|
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)
|
rs759360026
|
0.00002
|
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)
|
rs368119540
|
0.00002
|
NM_000441.2(SLC26A4):c.55del (p.Ser19fs)
|
rs1057516634
|
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.2730del (p.Leu910fs)
|
rs61750423
|
0.00002
|
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)
|
rs766020928
|
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.1570T>C (p.Cys524Arg)
|
rs368516826
|
0.00002
|
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)
|
rs374453187
|
0.00002
|
NM_000492.4(CFTR):c.165-3C>T
|
rs200337193
|
0.00002
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
NM_000492.4(CFTR):c.1A>G (p.Met1Val)
|
rs397508328
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
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_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)
|
rs372287825
|
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.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
NM_000553.6(WRN):c.210-1G>A
|
rs758988621
|
0.00002
|
NM_000553.6(WRN):c.329dup (p.Tyr110Ter)
|
rs766733097
|
0.00002
|
NM_000553.6(WRN):c.3460-7T>A
|
rs1334937558
|
0.00002
|
NM_000553.6(WRN):c.3819+1G>A
|
rs748618811
|
0.00002
|
NM_000553.6(WRN):c.3820-2A>G
|
rs759685032
|
0.00002
|
NM_000782.5(CYP24A1):c.3G>T (p.Met1Ile)
|
rs781367354
|
0.00002
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
NM_001012339.3(DNAJC21):c.983+1G>A
|
rs368148362
|
0.00002
|
NM_001044385.3(TMEM237):c.553+1G>A
|
rs80034299
|
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.637C>T (p.Arg213Trp)
|
rs34126013
|
0.00002
|
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)
|
rs200495564
|
0.00002
|
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)
|
rs786203115
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001077365.2(POMT1):c.1698+1G>A
|
rs763586263
|
0.00002
|
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)
|
rs774091057
|
0.00002
|
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)
|
rs375876694
|
0.00002
|
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)
|
rs756614749
|
0.00002
|
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter)
|
rs370038232
|
0.00002
|
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter)
|
rs199775294
|
0.00002
|
NM_001128178.3(NPHP1):c.729-2A>G
|
rs773781058
|
0.00002
|
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter)
|
rs777647845
|
0.00002
|
NM_001130987.2(DYSF):c.1149+1G>A
|
rs398123763
|
0.00002
|
NM_001130987.2(DYSF):c.1258dup (p.Ala420fs)
|
rs779969348
|
0.00002
|
NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln)
|
rs752689148
|
0.00002
|
NM_001130987.2(DYSF):c.3403-2A>G
|
rs370874727
|
0.00002
|
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)
|
rs757917335
|
0.00002
|
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)
|
rs121908955
|
0.00002
|
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)
|
rs761732432
|
0.00002
|
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs)
|
rs759593846
|
0.00002
|
NM_001136035.4(TRMT1):c.967C>T (p.Arg323Cys)
|
rs542184779
|
0.00002
|
NM_001171.6(ABCC6):c.1460G>A (p.Arg487Gln)
|
rs72653768
|
0.00002
|
NM_001171.6(ABCC6):c.2248-2_2248-1del
|
rs111113624
|
0.00002
|
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter)
|
rs72653705
|
0.00002
|
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys)
|
rs63751215
|
0.00002
|
NM_001171.6(ABCC6):c.386G>A (p.Gly129Glu)
|
rs72653753
|
0.00002
|
NM_001171.6(ABCC6):c.3883-6G>A
|
rs72664214
|
0.00002
|
NM_001171.6(ABCC6):c.3902C>T (p.Thr1301Ile)
|
rs63750494
|
0.00002
|
NM_001173990.3(TMEM216):c.35-2A>G
|
rs1057517528
|
0.00002
|
NM_001194998.2(CEP152):c.2148-17G>A
|
rs751691427
|
0.00002
|
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys)
|
rs750421791
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys)
|
rs749798053
|
0.00002
|
NM_001256317.3(TMPRSS3):c.271C>T (p.Arg91Ter)
|
rs199903164
|
0.00002
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
NM_001267550.2(TTN):c.107628del (p.Asn35876fs)
|
rs766624923
|
0.00002
|
NM_001267550.2(TTN):c.16621+1G>T
|
rs761965693
|
0.00002
|
NM_001267550.2(TTN):c.34855+1G>A
|
rs377319699
|
0.00002
|
NM_001267550.2(TTN):c.35797+1G>T
|
rs917175304
|
0.00002
|
NM_001267550.2(TTN):c.52406-2A>C
|
rs753798236
|
0.00002
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys)
|
rs772739103
|
0.00002
|
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs)
|
rs1553421496
|
0.00002
|
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter)
|
rs755760721
|
0.00002
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter)
|
rs779165268
|
0.00002
|
NM_001384474.1(LOXHD1):c.4212+1G>A
|
rs889110926
|
0.00002
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_002230.4(JUP):c.902A>G (p.Glu301Gly)
|
rs782058451
|
0.00002
|
NM_002454.3(MTRR):c.166G>A (p.Val56Met)
|
rs761061866
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
NM_002617.4(PEX10):c.113-1G>A
|
rs867305222
|
0.00002
|
NM_002617.4(PEX10):c.1A>G (p.Met1Val)
|
rs886041314
|
0.00002
|
NM_002617.4(PEX10):c.868C>G (p.His290Asp)
|
rs61752094
|
0.00002
|
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)
|
rs367610201
|
0.00002
|
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)
|
rs537043237
|
0.00002
|
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)
|
rs121434582
|
0.00002
|
NM_003384.3(VRK1):c.216+1G>C
|
rs774518440
|
0.00002
|
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly)
|
rs754080445
|
0.00002
|
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser)
|
rs782220208
|
0.00002
|
NM_003801.4(GPAA1):c.643C>T (p.Arg215Ter)
|
rs782498857
|
0.00002
|
NM_003896.4(ST3GAL5):c.282del (p.Met94fs)
|
rs1383734078
|
0.00002
|
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)
|
rs111033203
|
0.00002
|
NM_004004.6(GJB2):c.298del (p.His100fs)
|
rs775828835
|
0.00002
|
NM_004004.6(GJB2):c.299A>T (p.His100Leu)
|
rs1422767764
|
0.00002
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
0.00002
|
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)
|
rs786204597
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004086.3(COCH):c.271C>T (p.Arg91Ter)
|
rs540895576
|
0.00002
|
NM_004407.4(DMP1):c.55-1G>C
|
rs587776697
|
0.00002
|
NM_004447.6(EPS8):c.205-8A>G
|
rs180899529
|
0.00002
|
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter)
|
rs747737475
|
0.00002
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_005529.7(HSPG2):c.5273G>A (p.Arg1758Gln)
|
rs2229483
|
0.00002
|
NM_005807.6(PRG4):c.3496C>T (p.Arg1166Ter)
|
rs773621375
|
0.00002
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
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_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)
|
rs75718910
|
0.00002
|
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe)
|
rs143960270
|
0.00002
|
NM_006642.5(SDCCAG8):c.1745-2A>G
|
rs1442457872
|
0.00002
|
NM_012205.3(HAAO):c.21del (p.Arg8fs)
|
rs1227604776
|
0.00002
|
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)
|
rs121434447
|
0.00002
|
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)
|
rs572052810
|
0.00002
|
NM_013382.7(POMT2):c.1006+5G>A
|
rs587780422
|
0.00002
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
NM_013382.7(POMT2):c.248+5G>C
|
rs587777816
|
0.00002
|
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg)
|
rs761773211
|
0.00002
|
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)
|
rs587780423
|
0.00002
|
NM_014363.6(SACS):c.1A>G (p.Met1Val)
|
rs771943685
|
0.00002
|
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter)
|
rs766457071
|
0.00002
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
NM_014425.5(INVS):c.2068+2T>C
|
rs777556837
|
0.00002
|
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)
|
rs764893412
|
0.00002
|
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)
|
rs372535542
|
0.00002
|
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter)
|
rs1210874691
|
0.00002
|
NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs)
|
rs751662952
|
0.00002
|
NM_015102.5(NPHP4):c.518-2A>G
|
rs761142233
|
0.00002
|
NM_015102.5(NPHP4):c.992+2T>C
|
rs746243637
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs)
|
rs749987648
|
0.00002
|
NM_015378.4(VPS13D):c.941+3A>G
|
rs372431023
|
0.00002
|
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter)
|
rs139804668
|
0.00002
|
NM_015662.3(IFT172):c.402+2T>G
|
rs774548930
|
0.00002
|
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)
|
rs118204044
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)
|
rs748868741
|
0.00002
|
NM_016356.5(DCDC2):c.942del (p.Gly315fs)
|
rs1554144869
|
0.00002
|
NM_017433.5(MYO3A):c.2783C>G (p.Ser928Ter)
|
rs778110879
|
0.00002
|
NM_017739.4(POMGNT1):c.1649+1G>A
|
rs752700398
|
0.00002
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)
|
rs386834053
|
0.00002
|
NM_018136.5(ASPM):c.2419+2T>C
|
rs587783225
|
0.00002
|
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)
|
rs371310428
|
0.00002
|
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)
|
rs553697188
|
0.00002
|
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys)
|
rs763992407
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp)
|
rs140246430
|
0.00002
|
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)
|
rs748118737
|
0.00002
|
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)
|
rs775935766
|
0.00002
|
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)
|
rs565837539
|
0.00002
|
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro)
|
rs201100272
|
0.00002
|
NM_020458.4(TTC7A):c.2018-1G>C
|
rs948534045
|
0.00002
|
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)
|
rs763982675
|
0.00002
|
NM_020632.3(ATP6V0A4):c.1691+2dup
|
rs753232747
|
0.00002
|
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter)
|
rs754517968
|
0.00002
|
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)
|
rs1260264247
|
0.00002
|
NM_020661.4(AICDA):c.71G>A (p.Arg24Gln)
|
rs886923939
|
0.00002
|
NM_020779.4(WDR35):c.1382G>A (p.Arg461Gln)
|
rs200140363
|
0.00002
|
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)
|
rs201757275
|
0.00002
|
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu)
|
rs778251205
|
0.00002
|
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn)
|
rs770665588
|
0.00002
|
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln)
|
rs547034667
|
0.00002
|
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter)
|
rs745937740
|
0.00002
|
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)
|
rs770711331
|
0.00002
|
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)
|
rs1247934219
|
0.00002
|
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)
|
rs760345680
|
0.00002
|
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu)
|
rs746953590
|
0.00002
|
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)
|
rs372632599
|
0.00002
|
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser)
|
rs587783733
|
0.00002
|
NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter)
|
rs753535530
|
0.00002
|
NM_024649.5(BBS1):c.1110+329C>T
|
rs571170303
|
0.00002
|
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)
|
rs183771956
|
0.00002
|
NM_024649.5(BBS1):c.479+2T>G
|
rs1353098253
|
0.00002
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
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.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_024753.5(TTC21B):c.1386+1G>T
|
rs764514397
|
0.00002
|
NM_024753.5(TTC21B):c.2482dup (p.Met828fs)
|
rs906032090
|
0.00002
|
NM_024809.5(TCTN2):c.703del (p.Leu235fs)
|
rs760830696
|
0.00002
|
NM_025114.4(CEP290):c.181-1G>A
|
rs281865190
|
0.00002
|
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)
|
rs758991387
|
0.00002
|
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs)
|
rs767231715
|
0.00002
|
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter)
|
rs775189201
|
0.00002
|
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter)
|
rs762739726
|
0.00002
|
NM_031475.3(ESPN):c.1464+1G>A
|
rs752649606
|
0.00002
|
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)
|
rs886043059
|
0.00002
|
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)
|
rs762047808
|
0.00002
|
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)
|
rs777309662
|
0.00002
|
NM_032130.3(FAM186B):c.506-2A>G
|
rs549662742
|
0.00002
|
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)
|
rs914062190
|
0.00002
|
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys)
|
rs553547069
|
0.00002
|
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)
|
rs766785968
|
0.00002
|
NM_052989.3(IFT122):c.1148-1G>C
|
rs755005244
|
0.00002
|
NM_057176.3(BSND):c.35T>C (p.Ile12Thr)
|
rs121908144
|
0.00002
|
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)
|
rs911722283
|
0.00002
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
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.4199C>T (p.Ser1400Leu)
|
rs191201723
|
0.00002
|
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)
|
rs367970695
|
0.00002
|
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)
|
rs777999875
|
0.00002
|
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
|
rs774290802
|
0.00002
|
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)
|
rs748196998
|
0.00002
|
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)
|
rs398124497
|
0.00002
|
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro)
|
rs757148837
|
0.00002
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00002
|
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala)
|
rs890884615
|
0.00002
|
NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu)
|
rs377581131
|
0.00002
|
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)
|
rs760382778
|
0.00002
|
NM_147127.5(EVC2):c.2829+1G>A
|
rs752255602
|
0.00002
|
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)
|
rs28942097
|
0.00002
|
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)
|
rs759408031
|
0.00002
|
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)
|
rs398124546
|
0.00002
|
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)
|
rs201237799
|
0.00002
|
NM_153240.5(NPHP3):c.2570+1G>T
|
rs1322038132
|
0.00002
|
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter)
|
rs758716466
|
0.00002
|
NM_153240.5(NPHP3):c.393+1G>C
|
rs754332448
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_153676.4(USH1C):c.248+1G>A
|
rs1482487617
|
0.00002
|
NM_153717.3(EVC):c.2562-2A>G
|
rs1293098417
|
0.00002
|
NM_153717.3(EVC):c.2782+1G>T
|
rs1007534611
|
0.00002
|
NM_173477.5(USH1G):c.46C>G (p.Leu16Val)
|
rs876657419
|
0.00002
|
NM_178170.3(NEK8):c.889+1G>T
|
rs780247729
|
0.00002
|
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)
|
rs111033405
|
0.00002
|
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)
|
rs781688103
|
0.00002
|
NM_199292.3(TH):c.-71C>T
|
rs549435434
|
0.00002
|
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro)
|
rs750321557
|
0.00002
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
|
rs759898765
|
0.00002
|
NM_206933.4(USH2A):c.12295-2A>G
|
rs151148854
|
0.00002
|
NM_206933.4(USH2A):c.14344-1G>T
|
rs919142559
|
0.00002
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
0.00002
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)
|
rs757154662
|
0.00002
|
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
|
rs201529124
|
0.00002
|
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
|
rs375668376
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_206933.4(USH2A):c.6672dup (p.Gly2225fs)
|
rs1284826852
|
0.00002
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys)
|
rs777607869
|
0.00002
|
NM_213599.3(ANO5):c.1823T>C (p.Ile608Thr)
|
rs763783201
|
0.00002
|
NR_003051.3(RMRP):n.-22_-6dup
|
rs727502777
|
0.00002
|
NR_003051.3(RMRP):n.-24_-12dup
|
rs781730798
|
0.00002
|
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val)
|
rs120074143
|
0.00001
|
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)
|
rs748303093
|
0.00001
|
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)
|
rs377295639
|
0.00001
|
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)
|
rs761086326
|
0.00001
|
NM_000019.4(ACAT1):c.120+1G>C
|
rs779908220
|
0.00001
|
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter)
|
rs748425041
|
0.00001
|
NM_000019.4(ACAT1):c.30del (p.Ser10fs)
|
rs1565281236
|
0.00001
|
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)
|
rs1278227329
|
0.00001
|
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)
|
rs1591363760
|
0.00001
|
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)
|
rs120074148
|
0.00001
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
NM_000019.4(ACAT1):c.749del (p.Val250fs)
|
rs1565293957
|
0.00001
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
NM_000019.4(ACAT1):c.826+5_826+9del
|
rs1410743762
|
0.00001
|
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro)
|
rs1420321267
|
0.00001
|
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)
|
rs120074147
|
0.00001
|
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)
|
rs60407644
|
0.00001
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
NM_000023.4(SGCA):c.313-2A>G
|
rs1057516650
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.489del (p.Leu164fs)
|
rs753650776
|
0.00001
|
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)
|
rs199810179
|
0.00001
|
NM_000023.4(SGCA):c.580G>T (p.Glu194Ter)
|
rs1057516664
|
0.00001
|
NM_000023.4(SGCA):c.585-1G>A
|
rs1342189589
|
0.00001
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00001
|
NM_000023.4(SGCA):c.748-2A>T
|
rs1412537279
|
0.00001
|
NM_000023.4(SGCA):c.851G>A (p.Arg284His)
|
rs369359375
|
0.00001
|
NM_000023.4(SGCA):c.957-11C>G
|
rs1391089933
|
0.00001
|
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
|
rs1057516964
|
0.00001
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
|
rs754203833
|
0.00001
|
NM_000057.4(BLM):c.1968dup (p.Lys657fs)
|
rs772785079
|
0.00001
|
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg)
|
rs747281324
|
0.00001
|
NM_000057.4(BLM):c.2075-1G>A
|
rs1231598990
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)
|
rs148394770
|
0.00001
|
NM_000057.4(BLM):c.2488dup (p.Thr830fs)
|
rs367543019
|
0.00001
|
NM_000057.4(BLM):c.2663-1G>C
|
rs1444037196
|
0.00001
|
NM_000057.4(BLM):c.2823+2T>A
|
rs1896712920
|
0.00001
|
NM_000057.4(BLM):c.2824-2A>T
|
rs745538883
|
0.00001
|
NM_000057.4(BLM):c.3013_3019+4del
|
rs765392662
|
0.00001
|
NM_000057.4(BLM):c.3020-258A>G
|
rs1301751251
|
0.00001
|
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)
|
rs746218707
|
0.00001
|
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)
|
rs1057517154
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp)
|
rs774273767
|
0.00001
|
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)
|
rs988027905
|
0.00001
|
NM_000070.3(CAPN3):c.1194-9A>G
|
rs374665929
|
0.00001
|
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)
|
rs777483913
|
0.00001
|
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)
|
rs777323132
|
0.00001
|
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)
|
rs863224956
|
0.00001
|
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)
|
rs1274808359
|
0.00001
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)
|
rs398123143
|
0.00001
|
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)
|
rs372438001
|
0.00001
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)
|
rs886042557
|
0.00001
|
NM_000070.3(CAPN3):c.2115+1G>A
|
rs766917640
|
0.00001
|
NM_000070.3(CAPN3):c.2185-16A>G
|
rs1339644598
|
0.00001
|
NM_000070.3(CAPN3):c.2185-2A>G
|
rs886041335
|
0.00001
|
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)
|
rs764459544
|
0.00001
|
NM_000070.3(CAPN3):c.2290del (p.Asp764fs)
|
rs886044527
|
0.00001
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala)
|
rs587780291
|
0.00001
|
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val)
|
rs763719290
|
0.00001
|
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)
|
rs773001194
|
0.00001
|
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)
|
rs1345121557
|
0.00001
|
NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg)
|
rs779939785
|
0.00001
|
NM_000070.3(CAPN3):c.946-29del
|
rs1595826640
|
0.00001
|
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)
|
rs121434547
|
0.00001
|
NM_000082.4(ERCC8):c.1042-1G>A
|
rs897535441
|
0.00001
|
NM_000082.4(ERCC8):c.1042-2A>G
|
rs372237310
|
0.00001
|
NM_000082.4(ERCC8):c.1122+1G>A
|
rs1482664387
|
0.00001
|
NM_000082.4(ERCC8):c.173+1G>A
|
rs1476095782
|
0.00001
|
NM_000082.4(ERCC8):c.600dup (p.Ile201fs)
|
rs1468231556
|
0.00001
|
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg)
|
rs770499406
|
0.00001
|
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter)
|
rs370657735
|
0.00001
|
NM_000082.4(ERCC8):c.843+1G>T
|
rs1305258765
|
0.00001
|
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)
|
rs767000881
|
0.00001
|
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu)
|
rs1282349760
|
0.00001
|
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro)
|
rs1023099235
|
0.00001
|
NM_000083.3(CLCN1):c.1264G>A (p.Glu422Lys)
|
rs889073641
|
0.00001
|
NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser)
|
rs375292685
|
0.00001
|
NM_000083.3(CLCN1):c.1930+1G>A
|
rs771002652
|
0.00001
|
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro)
|
rs754350357
|
0.00001
|
NM_000083.3(CLCN1):c.2172G>T (p.Glu724Asp)
|
rs753308829
|
0.00001
|
NM_000083.3(CLCN1):c.2403+5G>A
|
rs1474520642
|
0.00001
|
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys)
|
rs80356686
|
0.00001
|
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp)
|
rs746691295
|
0.00001
|
NM_000083.3(CLCN1):c.774G>A (p.Glu258=)
|
rs770605959
|
0.00001
|
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr)
|
rs1475869303
|
0.00001
|
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)
|
rs121912805
|
0.00001
|
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)
|
rs80356692
|
0.00001
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)
|
rs757341933
|
0.00001
|
NM_000091.5(COL4A3):c.145-2_145-1del
|
rs1491486533
|
0.00001
|
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)
|
rs1256505387
|
0.00001
|
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys)
|
rs779575469
|
0.00001
|
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)
|
rs1457269547
|
0.00001
|
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)
|
rs773515249
|
0.00001
|
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)
|
rs200672668
|
0.00001
|
NM_000091.5(COL4A3):c.1927+2T>C
|
rs1158937060
|
0.00001
|
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)
|
rs778034451
|
0.00001
|
NM_000091.5(COL4A3):c.1A>C (p.Met1Leu)
|
rs1396602090
|
0.00001
|
NM_000091.5(COL4A3):c.2197G>T (p.Gly733Ter)
|
rs2071839316
|
0.00001
|
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)
|
rs1060499654
|
0.00001
|
NM_000091.5(COL4A3):c.2488_2488+2del
|
rs1363058249
|
0.00001
|
NM_000091.5(COL4A3):c.2747-1G>C
|
rs1196996393
|
0.00001
|
NM_000091.5(COL4A3):c.3210+1G>A
|
rs1553762314
|
0.00001
|
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)
|
rs202147112
|
0.00001
|
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)
|
rs914878176
|
0.00001
|
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val)
|
rs1183958961
|
0.00001
|
NM_000091.5(COL4A3):c.3751+1G>A
|
rs781566652
|
0.00001
|
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)
|
rs1189607438
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter)
|
rs769863513
|
0.00001
|
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg)
|
rs766208466
|
0.00001
|
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs)
|
rs756133651
|
0.00001
|
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)
|
rs755649235
|
0.00001
|
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter)
|
rs926605269
|
0.00001
|
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)
|
rs1559594442
|
0.00001
|
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys)
|
rs779930511
|
0.00001
|
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser)
|
rs776036994
|
0.00001
|
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu)
|
rs781660254
|
0.00001
|
NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala)
|
rs201648982
|
0.00001
|
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)
|
rs121912860
|
0.00001
|
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu)
|
rs769138971
|
0.00001
|
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg)
|
rs749299357
|
0.00001
|
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs)
|
rs1162601696
|
0.00001
|
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter)
|
rs891854419
|
0.00001
|
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr)
|
rs377058706
|
0.00001
|
NM_000092.5(COL4A4):c.489+1G>A
|
rs1040287646
|
0.00001
|
NM_000092.5(COL4A4):c.559-2A>G
|
rs766243664
|
0.00001
|
NM_000092.5(COL4A4):c.559-2A>T
|
rs766243664
|
0.00001
|
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val)
|
rs2061040474
|
0.00001
|
NM_000092.5(COL4A4):c.735+2T>C
|
rs2060993180
|
0.00001
|
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser)
|
rs2060673883
|
0.00001
|
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val)
|
rs760795817
|
0.00001
|
NM_000092.5(COL4A4):c.975+1G>A
|
rs1553683192
|
0.00001
|
NM_000123.4(ERCC5):c.673-2A>G
|
rs756420203
|
0.00001
|
NM_000124.4(ERCC6):c.1398-2A>G
|
rs1317145066
|
0.00001
|
NM_000124.4(ERCC6):c.1526+1G>T
|
rs371739894
|
0.00001
|
NM_000124.4(ERCC6):c.1821+1G>A
|
rs1228919836
|
0.00001
|
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs)
|
rs774791374
|
0.00001
|
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)
|
rs786205171
|
0.00001
|
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)
|
rs765825423
|
0.00001
|
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter)
|
rs762976316
|
0.00001
|
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile)
|
rs763294577
|
0.00001
|
NM_000162.5(GCK):c.1324G>A (p.Glu442Lys)
|
rs758737171
|
0.00001
|
NM_000163.5(GHR):c.508G>C (p.Asp170His)
|
rs121909366
|
0.00001
|
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)
|
rs61749676
|
0.00001
|
NM_000180.4(GUCY2D):c.2008C>T (p.Arg670Trp)
|
rs931906767
|
0.00001
|
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu)
|
rs765463082
|
0.00001
|
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)
|
rs750889782
|
0.00001
|
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln)
|
rs61750171
|
0.00001
|
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn)
|
rs201587670
|
0.00001
|
NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu)
|
rs138922415
|
0.00001
|
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln)
|
rs121913148
|
0.00001
|
NM_000211.5(ITGB2):c.2077C>T (p.Arg693Ter)
|
rs2083734400
|
0.00001
|
NM_000211.5(ITGB2):c.809C>T (p.Ala270Val)
|
rs147318988
|
0.00001
|
NM_000231.3(SGCG):c.342dup (p.Ala115fs)
|
rs1262459682
|
0.00001
|
NM_000231.3(SGCG):c.385+2T>C
|
rs200206447
|
0.00001
|
NM_000231.3(SGCG):c.559del (p.Asp187fs)
|
rs1484553312
|
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_000232.5(SGCB):c.1A>G (p.Met1Val)
|
rs398123262
|
0.00001
|
NM_000232.5(SGCB):c.265G>A (p.Val89Met)
|
rs762652676
|
0.00001
|
NM_000232.5(SGCB):c.33+1G>C
|
rs1553940957
|
0.00001
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)
|
rs751427686
|
0.00001
|
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter)
|
rs773554421
|
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_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000254.3(MTR):c.1812+1G>A
|
rs778242201
|
0.00001
|
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)
|
rs397516281
|
0.00001
|
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)
|
rs1555067667
|
0.00001
|
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)
|
rs797044511
|
0.00001
|
NM_000260.4(MYO7A):c.1545G>T (p.Lys515Asn)
|
rs782313585
|
0.00001
|
NM_000260.4(MYO7A):c.1555-8C>G
|
rs1057517774
|
0.00001
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00001
|
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter)
|
rs781951909
|
0.00001
|
NM_000260.4(MYO7A):c.1935+1G>C
|
rs1343207038
|
0.00001
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
NM_000260.4(MYO7A):c.2157G>A (p.Trp719Ter)
|
rs1461201353
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000260.4(MYO7A):c.224dup (p.Asp75fs)
|
rs1224819887
|
0.00001
|
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)
|
rs201892914
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000260.4(MYO7A):c.285+1G>C
|
rs782661097
|
0.00001
|
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser)
|
rs781988557
|
0.00001
|
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter)
|
rs782131913
|
0.00001
|
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)
|
rs376535635
|
0.00001
|
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)
|
rs750358148
|
0.00001
|
NM_000260.4(MYO7A):c.3924+1G>C
|
rs1226046110
|
0.00001
|
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys)
|
rs782808261
|
0.00001
|
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)
|
rs757460257
|
0.00001
|
NM_000260.4(MYO7A):c.4569-1G>A
|
rs775792432
|
0.00001
|
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)
|
rs1199012623
|
0.00001
|
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)
|
rs1472566324
|
0.00001
|
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)
|
rs111033174
|
0.00001
|
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)
|
rs111033182
|
0.00001
|
NM_000260.4(MYO7A):c.5442T>A (p.Tyr1814Ter)
|
rs1407313220
|
0.00001
|
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)
|
rs1385324903
|
0.00001
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321
|
0.00001
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=)
|
rs1453053718
|
0.00001
|
NM_000260.4(MYO7A):c.5857-2A>G
|
rs1555107286
|
0.00001
|
NM_000260.4(MYO7A):c.5945-1G>A
|
rs1268984037
|
0.00001
|
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter)
|
rs773844428
|
0.00001
|
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
|
rs28934610
|
0.00001
|
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)
|
rs111033283
|
0.00001
|
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met)
|
rs1383147250
|
0.00001
|
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter)
|
rs747095250
|
0.00001
|
NM_000260.4(MYO7A):c.849+5G>A
|
rs1060499716
|
0.00001
|
NM_000271.5(NPC1):c.1028G>C (p.Gly343Ala)
|
rs1444308532
|
0.00001
|
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)
|
rs1555637232
|
0.00001
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)
|
rs369368181
|
0.00001
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
NM_000271.5(NPC1):c.1948-1G>A
|
rs1555634508
|
0.00001
|
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)
|
rs772565983
|
0.00001
|
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser)
|
rs768999208
|
0.00001
|
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)
|
rs786204714
|
0.00001
|
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)
|
rs1428599096
|
0.00001
|
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
|
rs120074135
|
0.00001
|
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)
|
rs1057517978
|
0.00001
|
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)
|
rs28942108
|
0.00001
|
NM_000271.5(NPC1):c.2933G>A (p.Arg978His)
|
rs752728865
|
0.00001
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys)
|
rs548191894
|
0.00001
|
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)
|
rs781261962
|
0.00001
|
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)
|
rs28942107
|
0.00001
|
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)
|
rs28942104
|
0.00001
|
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln)
|
rs534280005
|
0.00001
|
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)
|
rs746715353
|
0.00001
|
NM_000271.5(NPC1):c.3309dup (p.Val1104fs)
|
rs1057517194
|
0.00001
|
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)
|
rs748862167
|
0.00001
|
NM_000271.5(NPC1):c.3521C>T (p.Ala1174Val)
|
rs780175800
|
0.00001
|
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly)
|
rs369098773
|
0.00001
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
NM_000271.5(NPC1):c.3591+1G>A
|
rs786200877
|
0.00001
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly)
|
rs1415921261
|
0.00001
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
NM_000271.5(NPC1):c.631+2T>C
|
rs1555638833
|
0.00001
|
NM_000271.5(NPC1):c.743G>T (p.Gly248Val)
|
rs1230538609
|
0.00001
|
NM_000271.5(NPC1):c.956-1G>A
|
rs756853895
|
0.00001
|
NM_000271.5(NPC1):c.956-2A>G
|
rs1473909084
|
0.00001
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
NM_000277.3(PAH):c.1097C>T (p.Pro366Leu)
|
rs62516098
|
0.00001
|
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg)
|
rs1874694173
|
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.1199G>A (p.Arg400Lys)
|
rs199475658
|
0.00001
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
NM_000277.3(PAH):c.1200G>T (p.Arg400Ser)
|
rs1874549626
|
0.00001
|
NM_000277.3(PAH):c.1216A>G (p.Ile406Val)
|
rs749613899
|
0.00001
|
NM_000277.3(PAH):c.1259G>T (p.Arg420Met)
|
rs767075719
|
0.00001
|
NM_000277.3(PAH):c.1316-2A>G
|
rs760830761
|
0.00001
|
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)
|
rs1402168594
|
0.00001
|
NM_000277.3(PAH):c.140C>T (p.Ala47Val)
|
rs118203925
|
0.00001
|
NM_000277.3(PAH):c.161T>C (p.Leu54Ser)
|
rs199475677
|
0.00001
|
NM_000277.3(PAH):c.169-13T>G
|
rs62507341
|
0.00001
|
NM_000277.3(PAH):c.183C>G (p.Asn61Lys)
|
rs199475634
|
0.00001
|
NM_000277.3(PAH):c.1A>G (p.Met1Val)
|
rs62514891
|
0.00001
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
NM_000277.3(PAH):c.223G>A (p.Asp75Asn)
|
rs767453024
|
0.00001
|
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)
|
rs62509017
|
0.00001
|
NM_000277.3(PAH):c.320A>G (p.His107Arg)
|
rs542645236
|
0.00001
|
NM_000277.3(PAH):c.356C>T (p.Pro119Leu)
|
rs374999809
|
0.00001
|
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)
|
rs199475623
|
0.00001
|
NM_000277.3(PAH):c.435C>A (p.Asp145Glu)
|
rs1375045653
|
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.493G>A (p.Ala165Thr)
|
rs199475626
|
0.00001
|
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)
|
rs281865440
|
0.00001
|
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)
|
rs199475613
|
0.00001
|
NM_000277.3(PAH):c.520A>G (p.Ile174Val)
|
rs199475632
|
0.00001
|
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn)
|
rs199475671
|
0.00001
|
NM_000277.3(PAH):c.545A>G (p.Glu182Gly)
|
rs199475617
|
0.00001
|
NM_000277.3(PAH):c.559T>C (p.Trp187Arg)
|
rs62507272
|
0.00001
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000277.3(PAH):c.632C>A (p.Pro211Gln)
|
rs281865443
|
0.00001
|
NM_000277.3(PAH):c.665A>G (p.Asp222Gly)
|
rs62507319
|
0.00001
|
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)
|
rs199475577
|
0.00001
|
NM_000277.3(PAH):c.716G>T (p.Gly239Val)
|
rs62507283
|
0.00001
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
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.811C>T (p.His271Tyr)
|
rs62517164
|
0.00001
|
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)
|
rs62514953
|
0.00001
|
NM_000277.3(PAH):c.828G>A (p.Met276Ile)
|
rs62514954
|
0.00001
|
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys)
|
rs62516155
|
0.00001
|
NM_000277.3(PAH):c.835C>G (p.Pro279Ala)
|
rs1555204441
|
0.00001
|
NM_000277.3(PAH):c.842+3G>C
|
rs62507324
|
0.00001
|
NM_000277.3(PAH):c.859C>A (p.Leu287Met)
|
rs781096854
|
0.00001
|
NM_000277.3(PAH):c.859C>G (p.Leu287Val)
|
rs781096854
|
0.00001
|
NM_000277.3(PAH):c.875C>T (p.Pro292Leu)
|
rs1200240274
|
0.00001
|
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)
|
rs62642945
|
0.00001
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
NM_000277.3(PAH):c.922C>T (p.Leu308Phe)
|
rs62642095
|
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.941C>A (p.Pro314His)
|
rs62642940
|
0.00001
|
NM_000277.3(PAH):c.968_970del (p.Thr323del)
|
rs199475618
|
0.00001
|
NM_000277.3(PAH):c.970-1G>A
|
rs202183605
|
0.00001
|
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)
|
rs199475616
|
0.00001
|
NM_000277.3(PAH):c.998T>C (p.Leu333Pro)
|
rs1344368175
|
0.00001
|
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)
|
rs104894177
|
0.00001
|
NM_000281.4(PCBD1):c.289G>A (p.Glu97Lys)
|
rs397518416
|
0.00001
|
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)
|
rs760739894
|
0.00001
|
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)
|
rs767447750
|
0.00001
|
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter)
|
rs1056238409
|
0.00001
|
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter)
|
rs888633730
|
0.00001
|
NM_000286.3(PEX12):c.680+1G>A
|
rs904972651
|
0.00001
|
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs)
|
rs1408438094
|
0.00001
|
NM_000287.4(PEX6):c.1130+2T>C
|
rs1416001981
|
0.00001
|
NM_000287.4(PEX6):c.1231A>G (p.Met411Val)
|
rs752177240
|
0.00001
|
NM_000287.4(PEX6):c.1233+1G>A
|
rs763459576
|
0.00001
|
NM_000287.4(PEX6):c.1234-1G>T
|
rs1554127533
|
0.00001
|
NM_000287.4(PEX6):c.1287del (p.Trp430fs)
|
rs1258472160
|
0.00001
|
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)
|
rs61753225
|
0.00001
|
NM_000287.4(PEX6):c.1841del (p.Leu614fs)
|
rs863225083
|
0.00001
|
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser)
|
rs1244339215
|
0.00001
|
NM_000287.4(PEX6):c.2362+1G>A
|
rs1443107232
|
0.00001
|
NM_000287.4(PEX6):c.2362G>A (p.Val788Met)
|
rs267608240
|
0.00001
|
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)
|
rs61753229
|
0.00001
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)
|
rs1010184002
|
0.00001
|
NM_000287.4(PEX6):c.2806+1G>A
|
rs751900826
|
0.00001
|
NM_000287.4(PEX6):c.406_407insT (p.Pro136fs)
|
rs1561830903
|
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.592C>T (p.Gln198Ter)
|
rs764924345
|
0.00001
|
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
|
rs1032781250
|
0.00001
|
NM_000302.4(PLOD1):c.1471-2A>G
|
rs1401035675
|
0.00001
|
NM_000317.3(PTS):c.104A>G (p.Glu35Gly)
|
rs1328320990
|
0.00001
|
NM_000317.3(PTS):c.186+1G>T
|
rs1256819927
|
0.00001
|
NM_000317.3(PTS):c.243+2T>C
|
rs759363496
|
0.00001
|
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
NM_000317.3(PTS):c.315-1G>C
|
rs776543880
|
0.00001
|
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)
|
rs104894279
|
0.00001
|
NM_000317.3(PTS):c.367C>T (p.Pro123Ser)
|
rs141163668
|
0.00001
|
NM_000317.3(PTS):c.379C>G (p.Leu127Val)
|
rs1859971515
|
0.00001
|
NM_000317.3(PTS):c.46C>T (p.Arg16Cys)
|
rs104894274
|
0.00001
|
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)
|
rs1317230624
|
0.00001
|
NM_000317.3(PTS):c.95G>A (p.Ser32Asn)
|
rs374871539
|
0.00001
|
NM_000318.3(PEX2):c.-17-2A>G
|
rs1289852067
|
0.00001
|
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter)
|
rs1224562361
|
0.00001
|
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)
|
rs61752124
|
0.00001
|
NM_000320.3(QDPR):c.344C>T (p.Ser115Leu)
|
rs1407920390
|
0.00001
|
NM_000320.3(QDPR):c.546-2A>G
|
rs1577184852
|
0.00001
|
NM_000320.3(QDPR):c.68G>A (p.Gly23Asp)
|
rs104893863
|
0.00001
|
NM_000320.3(QDPR):c.79G>T (p.Val27Leu)
|
rs762772317
|
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.1223T>C (p.Leu408Pro)
|
rs62636298
|
0.00001
|
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)
|
rs1064795255
|
0.00001
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
NM_000329.3(RPE65):c.235T>C (p.Tyr79His)
|
rs61752869
|
0.00001
|
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)
|
rs281865285
|
0.00001
|
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)
|
rs1444234037
|
0.00001
|
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)
|
rs1571170561
|
0.00001
|
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)
|
rs774309607
|
0.00001
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)
|
rs752058510
|
0.00001
|
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)
|
rs1171545533
|
0.00001
|
NM_000329.3(RPE65):c.938A>G (p.His313Arg)
|
rs1375943362
|
0.00001
|
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)
|
rs879253789
|
0.00001
|
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)
|
rs527236148
|
0.00001
|
NM_000337.6(SGCD):c.4-1G>A
|
rs1554094927
|
0.00001
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
NM_000360.4(TH):c.1103C>T (p.Thr368Met)
|
rs1057520384
|
0.00001
|
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)
|
rs121917762
|
0.00001
|
NM_000360.4(TH):c.1300T>C (p.Ser434Pro)
|
rs1367289835
|
0.00001
|
NM_000360.4(TH):c.1399G>T (p.Asp467Tyr)
|
rs200751977
|
0.00001
|
NM_000360.4(TH):c.2T>C (p.Met1Thr)
|
rs201932766
|
0.00001
|
NM_000360.4(TH):c.604C>T (p.Arg202Cys)
|
rs1021029193
|
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_000360.4(TH):c.850G>A (p.Gly284Ser)
|
rs1288483479
|
0.00001
|
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)
|
rs1013801316
|
0.00001
|
NM_000372.5(TYR):c.1101C>A (p.His367Gln)
|
rs139091458
|
0.00001
|
NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr)
|
rs61754386
|
0.00001
|
NM_000372.5(TYR):c.116G>A (p.Trp39Ter)
|
rs775683960
|
0.00001
|
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)
|
rs104894316
|
0.00001
|
NM_000372.5(TYR):c.1501dup (p.Arg501fs)
|
rs281865328
|
0.00001
|
NM_000372.5(TYR):c.635G>A (p.Arg212Lys)
|
rs377209424
|
0.00001
|
NM_000372.5(TYR):c.707G>A (p.Trp236Ter)
|
rs61754367
|
0.00001
|
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)
|
rs72547575
|
0.00001
|
NM_000382.3(ALDH3A2):c.1268G>A (p.Arg423His)
|
rs768290318
|
0.00001
|
NM_000382.3(ALDH3A2):c.798+1_798+6del
|
rs1057517352
|
0.00001
|
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)
|
rs1184563885
|
0.00001
|
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)
|
rs764256845
|
0.00001
|
NM_000400.4(ERCC2):c.1308-2A>G
|
rs766369300
|
0.00001
|
NM_000400.4(ERCC2):c.1489C>T (p.Arg497Cys)
|
rs199738290
|
0.00001
|
NM_000400.4(ERCC2):c.1759-2A>G
|
rs774936846
|
0.00001
|
NM_000400.4(ERCC2):c.1973G>A (p.Arg658His)
|
rs762141272
|
0.00001
|
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter)
|
rs774392894
|
0.00001
|
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys)
|
rs760820378
|
0.00001
|
NM_000414.4(HSD17B4):c.1210-11C>G
|
rs779466683
|
0.00001
|
NM_000414.4(HSD17B4):c.1333+1G>C
|
rs1369305726
|
0.00001
|
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
|
rs766199971
|
0.00001
|
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)
|
rs587777443
|
0.00001
|
NM_000414.4(HSD17B4):c.1574-1G>A
|
rs755412738
|
0.00001
|
NM_000414.4(HSD17B4):c.280+2T>C
|
rs770772281
|
0.00001
|
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp)
|
rs775766910
|
0.00001
|
NM_000426.4(LAMA2):c.112+1G>A
|
rs398123367
|
0.00001
|
NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter)
|
rs752094219
|
0.00001
|
NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter)
|
rs1383756739
|
0.00001
|
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter)
|
rs762342110
|
0.00001
|
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter)
|
rs776104105
|
0.00001
|
NM_000426.4(LAMA2):c.8244+1G>A
|
rs749522728
|
0.00001
|
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter)
|
rs1463264889
|
0.00001
|
NM_000441.2(SLC26A4):c.1002G>T (p.Gly334=)
|
rs1791494228
|
0.00001
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)
|
rs1293971731
|
0.00001
|
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)
|
rs142498437
|
0.00001
|
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)
|
rs397516416
|
0.00001
|
NM_000441.2(SLC26A4):c.1342-2A>C
|
rs1413121429
|
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.1708-1G>A
|
rs759414956
|
0.00001
|
NM_000441.2(SLC26A4):c.1768A>T (p.Lys590Ter)
|
rs778901860
|
0.00001
|
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)
|
rs397516424
|
0.00001
|
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)
|
rs200455203
|
0.00001
|
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn)
|
rs777641484
|
0.00001
|
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)
|
rs749013429
|
0.00001
|
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)
|
rs1060499808
|
0.00001
|
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)
|
rs752807925
|
0.00001
|
NM_000441.2(SLC26A4):c.2090-1G>A
|
rs1455597424
|
0.00001
|
NM_000441.2(SLC26A4):c.2106del (p.Lys702fs)
|
rs1374832271
|
0.00001
|
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)
|
rs1045933779
|
0.00001
|
NM_000441.2(SLC26A4):c.2319+1G>A
|
rs542079779
|
0.00001
|
NM_000441.2(SLC26A4):c.2320-2A>G
|
rs1275029034
|
0.00001
|
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr)
|
rs1554352718
|
0.00001
|
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val)
|
rs1562822565
|
0.00001
|
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)
|
rs786204426
|
0.00001
|
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile)
|
rs1481765326
|
0.00001
|
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)
|
rs1205712508
|
0.00001
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)
|
rs397516430
|
0.00001
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
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.1777G>A (p.Gly593Arg)
|
rs61750407
|
0.00001
|
NM_000466.3(PEX1):c.180G>A (p.Trp60Ter)
|
rs1408895107
|
0.00001
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_000466.3(PEX1):c.1A>T (p.Met1Leu)
|
rs1057517501
|
0.00001
|
NM_000466.3(PEX1):c.2071+1G>T
|
rs267608177
|
0.00001
|
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)
|
rs398123409
|
0.00001
|
NM_000466.3(PEX1):c.2583+1G>T
|
rs771586413
|
0.00001
|
NM_000466.3(PEX1):c.2719-1G>A
|
rs1791673946
|
0.00001
|
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)
|
rs866184460
|
0.00001
|
NM_000466.3(PEX1):c.2926+2T>C
|
rs267608180
|
0.00001
|
NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro)
|
rs1484321655
|
0.00001
|
NM_000466.3(PEX1):c.3208-1G>A
|
rs1057517518
|
0.00001
|
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)
|
rs149806989
|
0.00001
|
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)
|
rs762679408
|
0.00001
|
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)
|
rs397508154
|
0.00001
|
NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter)
|
rs1799061745
|
0.00001
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)
|
rs758900656
|
0.00001
|
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)
|
rs79282516
|
0.00001
|
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)
|
rs121909017
|
0.00001
|
NM_000492.4(CFTR):c.1478A>G (p.Gln493Arg)
|
rs397508214
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)
|
rs121908754
|
0.00001
|
NM_000492.4(CFTR):c.1585-9412A>G
|
rs397508229
|
0.00001
|
NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro)
|
rs1791967656
|
0.00001
|
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
|
rs397508256
|
0.00001
|
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)
|
rs121908758
|
0.00001
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
0.00001
|
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln)
|
rs397508342
|
0.00001
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)
|
rs121908749
|
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.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)
|
rs397508419
|
0.00001
|
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
|
rs369521395
|
0.00001
|
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)
|
rs121909008
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)
|
rs397508444
|
0.00001
|
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
|
rs386134230
|
0.00001
|
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)
|
rs397508461
|
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.296C>T (p.Pro99Leu)
|
rs397508467
|
0.00001
|
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)
|
rs397508476
|
0.00001
|
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
|
rs397508488
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.3139_3139+1del
|
rs397508505
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.325T>C (p.Tyr109His)
|
rs397508522
|
0.00001
|
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)
|
rs397508533
|
0.00001
|
NM_000492.4(CFTR):c.3406G>A (p.Ala1136Thr)
|
rs755968404
|
0.00001
|
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)
|
rs144781064
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)
|
rs121909040
|
0.00001
|
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser)
|
rs397508606
|
0.00001
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)
|
rs121909015
|
0.00001
|
NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter)
|
rs397508643
|
0.00001
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)
|
rs397508692
|
0.00001
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
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.4252del (p.Glu1418fs)
|
rs1554397750
|
0.00001
|
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)
|
rs121909043
|
0.00001
|
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)
|
rs397508727
|
0.00001
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
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_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
NM_000492.4(CFTR):c.870-2A>G
|
rs1290078234
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)
|
rs954727530
|
0.00001
|
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)
|
rs141145502
|
0.00001
|
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val)
|
rs1371185696
|
0.00001
|
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)
|
rs74339576
|
0.00001
|
NM_000526.5(KRT14):c.92del (p.Ile31fs)
|
rs60231560
|
0.00001
|
NM_000543.5(SMPD1):c.1001T>C (p.Ile334Thr)
|
rs759950370
|
0.00001
|
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)
|
rs776442314
|
0.00001
|
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg)
|
rs1206562843
|
0.00001
|
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)
|
rs794727629
|
0.00001
|
NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg)
|
rs779528546
|
0.00001
|
NM_000543.5(SMPD1):c.1341-1G>A
|
rs1057516854
|
0.00001
|
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys)
|
rs747143343
|
0.00001
|
NM_000543.5(SMPD1):c.1361C>A (p.Ala454Asp)
|
rs1402734026
|
0.00001
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)
|
rs748589919
|
0.00001
|
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs)
|
rs759389193
|
0.00001
|
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)
|
rs1554935669
|
0.00001
|
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)
|
rs120074119
|
0.00001
|
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr)
|
rs750433951
|
0.00001
|
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys)
|
rs763099671
|
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.319-1G>A
|
rs1352986086
|
0.00001
|
NM_000543.5(SMPD1):c.491G>T (p.Gly164Val)
|
rs1047531932
|
0.00001
|
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)
|
rs1847910654
|
0.00001
|
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter)
|
rs1554934212
|
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.742G>A (p.Glu248Lys)
|
rs200763423
|
0.00001
|
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)
|
rs750779804
|
0.00001
|
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp)
|
rs779927660
|
0.00001
|
NM_000553.6(WRN):c.1351-1G>A
|
rs1170732591
|
0.00001
|
NM_000553.6(WRN):c.1431+2T>C
|
rs1455462438
|
0.00001
|
NM_000553.6(WRN):c.1652+1G>A
|
rs777096501
|
0.00001
|
NM_000553.6(WRN):c.1829+5G>A
|
rs751015040
|
0.00001
|
NM_000553.6(WRN):c.1899-2A>T
|
rs1175230246
|
0.00001
|
NM_000553.6(WRN):c.209+5G>A
|
rs754208761
|
0.00001
|
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter)
|
rs371720457
|
0.00001
|
NM_000553.6(WRN):c.3309+1G>A
|
rs1281075870
|
0.00001
|
NM_000553.6(WRN):c.3384-1G>A
|
rs776963381
|
0.00001
|
NM_000553.6(WRN):c.3460-1G>A
|
rs1802899166
|
0.00001
|
NM_000553.6(WRN):c.355+1G>T
|
rs775196937
|
0.00001
|
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)
|
rs762379051
|
0.00001
|
NM_000553.6(WRN):c.3983-1G>T
|
rs752465293
|
0.00001
|
NM_000553.6(WRN):c.504+1G>T
|
rs1163988347
|
0.00001
|
NM_000553.6(WRN):c.673C>T (p.Arg225Ter)
|
rs370324188
|
0.00001
|
NM_000553.6(WRN):c.88G>T (p.Glu30Ter)
|
rs1198210848
|
0.00001
|
NM_000553.6(WRN):c.97-1G>A
|
rs780988648
|
0.00001
|
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter)
|
rs777947329
|
0.00001
|
NM_000784.4(CYP27A1):c.1017+1G>A
|
rs1943742261
|
0.00001
|
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)
|
rs1406298698
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+2T>C
|
rs777935791
|
0.00001
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
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.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)
|
rs1398584213
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)
|
rs72551316
|
0.00001
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His)
|
rs775061512
|
0.00001
|
NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter)
|
rs758210528
|
0.00001
|
NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr)
|
rs146312522
|
0.00001
|
NM_001023570.4(IQCB1):c.393+1G>C
|
rs1226321871
|
0.00001
|
NM_001023570.4(IQCB1):c.588-2A>G
|
rs1250919247
|
0.00001
|
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly)
|
rs387907088
|
0.00001
|
NM_001038603.3(MARVELD2):c.1147-2A>G
|
rs763062791
|
0.00001
|
NM_001038603.3(MARVELD2):c.1183-1G>A
|
rs200781822
|
0.00001
|
NM_001038603.3(MARVELD2):c.1331+1G>A
|
rs762352115
|
0.00001
|
NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter)
|
rs375857763
|
0.00001
|
NM_001039213.4(CEACAM16):c.1097C>T (p.Pro366Leu)
|
rs762367899
|
0.00001
|
NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter)
|
rs762067626
|
0.00001
|
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)
|
rs149644940
|
0.00001
|
NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter)
|
rs1163046936
|
0.00001
|
NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter)
|
rs776800006
|
0.00001
|
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter)
|
rs367688416
|
0.00001
|
NM_001044385.3(TMEM237):c.136+1G>T
|
rs778823927
|
0.00001
|
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys)
|
rs199634446
|
0.00001
|
NM_001048174.2(MUTYH):c.-6-2A>G
|
rs1383826978
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+1G>A
|
rs587781337
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.115+1G>A
|
rs1330675110
|
0.00001
|
NM_001048174.2(MUTYH):c.1434+1G>C
|
rs876659420
|
0.00001
|
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)
|
rs587780086
|
0.00001
|
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)
|
rs370124822
|
0.00001
|
NM_001048174.2(MUTYH):c.242G>C (p.Arg81Pro)
|
rs761763725
|
0.00001
|
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter)
|
rs888691362
|
0.00001
|
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter)
|
rs1553129892
|
0.00001
|
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)
|
rs777184451
|
0.00001
|
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter)
|
rs768386527
|
0.00001
|
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)
|
rs587781864
|
0.00001
|
NM_001048174.2(MUTYH):c.470G>A (p.Arg157Gln)
|
rs533899702
|
0.00001
|
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met)
|
rs776487884
|
0.00001
|
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu)
|
rs768553551
|
0.00001
|
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter)
|
rs1064796630
|
0.00001
|
NM_001048174.2(MUTYH):c.606G>A (p.Gln202=)
|
rs199989617
|
0.00001
|
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)
|
rs769237459
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
NM_001077365.2(POMT1):c.1176-2A>G
|
rs746523421
|
0.00001
|
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)
|
rs119462982
|
0.00001
|
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
NM_001077365.2(POMT1):c.699+67G>A
|
rs776061161
|
0.00001
|
NM_001077365.2(POMT1):c.699+68T>C
|
rs759254028
|
0.00001
|
NM_001077365.2(POMT1):c.986+1G>A
|
rs961071228
|
0.00001
|
NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met)
|
rs121908574
|
0.00001
|
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)
|
rs369691608
|
0.00001
|
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter)
|
rs777735526
|
0.00001
|
NM_001079866.2(BCS1L):c.463C>T (p.Arg155Ter)
|
rs774688562
|
0.00001
|
NM_001079866.2(BCS1L):c.528G>A (p.Trp176Ter)
|
rs762980642
|
0.00001
|
NM_001079866.2(BCS1L):c.696del (p.Gly233fs)
|
rs775388576
|
0.00001
|
NM_001079866.2(BCS1L):c.889+1G>T
|
rs1057516346
|
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_001080476.3(GRXCR1):c.79C>T (p.Arg27Ter)
|
rs769983282
|
0.00001
|
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter)
|
rs145818316
|
0.00001
|
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)
|
rs386833781
|
0.00001
|
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)
|
rs1461982823
|
0.00001
|
NM_001083961.2(WDR62):c.1194G>A (p.Trp398Ter)
|
rs769137869
|
0.00001
|
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn)
|
rs387907083
|
0.00001
|
NM_001083961.2(WDR62):c.2584G>A (p.Gly862Ser)
|
rs587784548
|
0.00001
|
NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr)
|
rs587784558
|
0.00001
|
NM_001101426.4(CRPPA):c.676T>C (p.Tyr226His)
|
rs1282788711
|
0.00001
|
NM_001127649.3(PEX26):c.667+2T>C
|
rs267608191
|
0.00001
|
NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg)
|
rs1744257909
|
0.00001
|
NM_001127671.2(LIFR):c.478_479del (p.Arg160fs)
|
rs1242667371
|
0.00001
|
NM_001128178.3(NPHP1):c.143+1G>C
|
rs745806504
|
0.00001
|
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)
|
rs1311042980
|
0.00001
|
NM_001128178.3(NPHP1):c.325_329+7del
|
rs1683656584
|
0.00001
|
NM_001128178.3(NPHP1):c.329+1G>A
|
rs376974221
|
0.00001
|
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)
|
rs1349732291
|
0.00001
|
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)
|
rs753517219
|
0.00001
|
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter)
|
rs267607135
|
0.00001
|
NM_001128425.2(MUTYH):c.36+1G>A
|
rs1553136984
|
0.00001
|
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)
|
rs768546511
|
0.00001
|
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)
|
rs886042389
|
0.00001
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
0.00001
|
NM_001130987.2(DYSF):c.1693-6T>A
|
rs886039573
|
0.00001
|
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)
|
rs377735262
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001130987.2(DYSF):c.2217-2A>G
|
rs747289205
|
0.00001
|
NM_001130987.2(DYSF):c.2409+1G>A
|
rs151317754
|
0.00001
|
NM_001130987.2(DYSF):c.2864+1G>A
|
rs199954546
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
|
rs758993965
|
0.00001
|
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)
|
rs776472879
|
0.00001
|
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)
|
rs769721856
|
0.00001
|
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)
|
rs886044411
|
0.00001
|
NM_001130987.2(DYSF):c.4528-2A>G
|
rs1213965862
|
0.00001
|
NM_001130987.2(DYSF):c.460+1G>A
|
rs1278864604
|
0.00001
|
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)
|
rs757820496
|
0.00001
|
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)
|
rs779987458
|
0.00001
|
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter)
|
rs886044422
|
0.00001
|
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter)
|
rs1342179740
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001130987.2(DYSF):c.5784+1G>A
|
rs909564120
|
0.00001
|
NM_001130987.2(DYSF):c.5884+1G>A
|
rs756689063
|
0.00001
|
NM_001130987.2(DYSF):c.5885-1G>C
|
rs771257070
|
0.00001
|
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter)
|
rs1553420848
|
0.00001
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)
|
rs121908963
|
0.00001
|
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)
|
rs1785745572
|
0.00001
|
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)
|
rs756276537
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)
|
rs376754552
|
0.00001
|
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
|
rs1270654737
|
0.00001
|
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter)
|
rs397514527
|
0.00001
|
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)
|
rs397514526
|
0.00001
|
NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys)
|
rs367588704
|
0.00001
|
NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter)
|
rs1194329020
|
0.00001
|
NM_001165967.2(HES7):c.86A>G (p.Asn29Ser)
|
rs1332109041
|
0.00001
|
NM_001171.6(ABCC6):c.1255C>T (p.Arg419Trp)
|
rs775853778
|
0.00001
|
NM_001171.6(ABCC6):c.1484T>A (p.Leu495His)
|
rs72653769
|
0.00001
|
NM_001171.6(ABCC6):c.2511C>A (p.Tyr837Ter)
|
rs72650702
|
0.00001
|
NM_001171.6(ABCC6):c.2678C>G (p.Ser893Ter)
|
rs1481200467
|
0.00001
|
NM_001171.6(ABCC6):c.333G>A (p.Trp111Ter)
|
rs1002088882
|
0.00001
|
NM_001171.6(ABCC6):c.3364del (p.Ser1122fs)
|
rs72664232
|
0.00001
|
NM_001171.6(ABCC6):c.3397G>T (p.Gly1133Cys)
|
rs63749807
|
0.00001
|
NM_001171.6(ABCC6):c.3507-1G>A
|
rs72664210
|
0.00001
|
NM_001171.6(ABCC6):c.37-1G>A
|
rs72657702
|
0.00001
|
NM_001171.6(ABCC6):c.3709C>T (p.Gln1237Ter)
|
rs72653746
|
0.00001
|
NM_001171.6(ABCC6):c.3722G>A (p.Trp1241Ter)
|
rs72653748
|
0.00001
|
NM_001171.6(ABCC6):c.3790C>T (p.Gln1264Ter)
|
rs1311228469
|
0.00001
|
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter)
|
rs72653749
|
0.00001
|
NM_001171.6(ABCC6):c.3953C>G (p.Ala1318Gly)
|
rs780887287
|
0.00001
|
NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser)
|
rs63749823
|
0.00001
|
NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter)
|
rs72653750
|
0.00001
|
NM_001171.6(ABCC6):c.4025T>C (p.Ile1342Thr)
|
rs63750608
|
0.00001
|
NM_001171.6(ABCC6):c.4403+1G>T
|
rs1006994885
|
0.00001
|
NM_001171.6(ABCC6):c.595C>T (p.Gln199Ter)
|
rs1474063386
|
0.00001
|
NM_001171.6(ABCC6):c.724G>T (p.Glu242Ter)
|
rs72650697
|
0.00001
|
NM_001173990.3(TMEM216):c.191del (p.Leu64fs)
|
rs1858737558
|
0.00001
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
NM_001173990.3(TMEM216):c.222del (p.Phe76fs)
|
rs1057517512
|
0.00001
|
NM_001173990.3(TMEM216):c.34+2T>C
|
rs1057517498
|
0.00001
|
NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter)
|
rs1310011888
|
0.00001
|
NM_001194998.2(CEP152):c.343C>T (p.Arg115Ter)
|
rs995036419
|
0.00001
|
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)
|
rs267606717
|
0.00001
|
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg)
|
rs753034799
|
0.00001
|
NM_001195263.2(PDZD7):c.928+1G>A
|
rs778565403
|
0.00001
|
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)
|
rs760474458
|
0.00001
|
NM_001199107.2(TBC1D24):c.965+2T>C
|
rs755370981
|
0.00001
|
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter)
|
rs775062249
|
0.00001
|
NM_001256317.3(TMPRSS3):c.581G>T (p.Cys194Phe)
|
rs1333651774
|
0.00001
|
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His)
|
rs137853000
|
0.00001
|
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg)
|
rs372526764
|
0.00001
|
NM_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met)
|
rs768140716
|
0.00001
|
NM_001256317.3(TMPRSS3):c.767C>T (p.Ala256Val)
|
rs1306292205
|
0.00001
|
NM_001256850.1(TTN):c.51809dup (p.Asp17270fs)
|
rs397517626
|
0.00001
|
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)
|
rs1064793560
|
0.00001
|
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)
|
rs1260821931
|
0.00001
|
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)
|
rs766265889
|
0.00001
|
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)
|
rs794729305
|
0.00001
|
NM_001267550.2(TTN):c.10303+2T>C
|
rs371596417
|
0.00001
|
NM_001267550.2(TTN):c.103408G>T (p.Glu34470Ter)
|
rs769023413
|
0.00001
|
NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter)
|
rs967542291
|
0.00001
|
NM_001267550.2(TTN):c.103945C>T (p.Arg34649Ter)
|
rs995029896
|
0.00001
|
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter)
|
rs727504184
|
0.00001
|
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)
|
rs747662439
|
0.00001
|
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter)
|
rs750519430
|
0.00001
|
NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter)
|
rs1202115268
|
0.00001
|
NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter)
|
rs991187915
|
0.00001
|
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)
|
rs886043924
|
0.00001
|
NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs)
|
rs1394131775
|
0.00001
|
NM_001267550.2(TTN):c.106279C>T (p.Gln35427Ter)
|
rs1285334952
|
0.00001
|
NM_001267550.2(TTN):c.106532-2A>C
|
rs753610150
|
0.00001
|
NM_001267550.2(TTN):c.107219dup (p.Pro35741fs)
|
rs1427595954
|
0.00001
|
NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)
|
rs1477669354
|
0.00001
|
NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter)
|
rs770579313
|
0.00001
|
NM_001267550.2(TTN):c.21961G>A (p.Glu7321Lys)
|
rs2078691261
|
0.00001
|
NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter)
|
rs764687326
|
0.00001
|
NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter)
|
rs1340940049
|
0.00001
|
NM_001267550.2(TTN):c.2371-1G>A
|
rs755365744
|
0.00001
|
NM_001267550.2(TTN):c.28739C>A (p.Ser9580Ter)
|
rs375212459
|
0.00001
|
NM_001267550.2(TTN):c.30223+1G>A
|
rs556408709
|
0.00001
|
NM_001267550.2(TTN):c.32011+1G>T
|
rs1471534246
|
0.00001
|
NM_001267550.2(TTN):c.32392+1G>A
|
rs1424314036
|
0.00001
|
NM_001267550.2(TTN):c.32471-1G>A
|
rs371725574
|
0.00001
|
NM_001267550.2(TTN):c.32555-1G>A
|
rs932486601
|
0.00001
|
NM_001267550.2(TTN):c.33910+1G>T
|
rs893407745
|
0.00001
|
NM_001267550.2(TTN):c.34612+1G>A
|
rs577363824
|
0.00001
|
NM_001267550.2(TTN):c.34837G>T (p.Glu11613Ter)
|
rs766945794
|
0.00001
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
NM_001267550.2(TTN):c.36448+2T>C
|
rs1426178024
|
0.00001
|
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)
|
rs767120669
|
0.00001
|
NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter)
|
rs794729258
|
0.00001
|
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs)
|
rs794729319
|
0.00001
|
NM_001267550.2(TTN):c.48160+1G>C
|
rs779498825
|
0.00001
|
NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter)
|
rs869312048
|
0.00001
|
NM_001267550.2(TTN):c.49346-2A>T
|
rs794729263
|
0.00001
|
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter)
|
rs1471414348
|
0.00001
|
NM_001267550.2(TTN):c.51986_51987del (p.Lys17329fs)
|
rs1195974666
|
0.00001
|
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter)
|
rs926741242
|
0.00001
|
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter)
|
rs753333359
|
0.00001
|
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter)
|
rs768431507
|
0.00001
|
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter)
|
rs747236787
|
0.00001
|
NM_001267550.2(TTN):c.55300C>T (p.Gln18434Ter)
|
rs1284529298
|
0.00001
|
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)
|
rs1483931960
|
0.00001
|
NM_001267550.2(TTN):c.56051-1G>A
|
rs1385817640
|
0.00001
|
NM_001267550.2(TTN):c.56648-1G>A
|
rs769912484
|
0.00001
|
NM_001267550.2(TTN):c.57127del (p.Glu19042_Val19043insTer)
|
rs2052216955
|
0.00001
|
NM_001267550.2(TTN):c.57378G>A (p.Trp19126Ter)
|
rs1192054216
|
0.00001
|
NM_001267550.2(TTN):c.57603C>A (p.Cys19201Ter)
|
rs1418030810
|
0.00001
|
NM_001267550.2(TTN):c.57849del (p.Val19284fs)
|
rs776385412
|
0.00001
|
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter)
|
rs768073446
|
0.00001
|
NM_001267550.2(TTN):c.58732+2T>C
|
rs869312054
|
0.00001
|
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter)
|
rs1250461669
|
0.00001
|
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)
|
rs974671846
|
0.00001
|
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)
|
rs797044692
|
0.00001
|
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)
|
rs878854324
|
0.00001
|
NM_001267550.2(TTN):c.62424del (p.Asp20808fs)
|
rs1250302805
|
0.00001
|
NM_001267550.2(TTN):c.63370C>T (p.Gln21124Ter)
|
rs1341948399
|
0.00001
|
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter)
|
rs869312098
|
0.00001
|
NM_001267550.2(TTN):c.66160+2T>C
|
rs753146898
|
0.00001
|
NM_001267550.2(TTN):c.67348+1G>A
|
rs758279518
|
0.00001
|
NM_001267550.2(TTN):c.67349-2A>C
|
rs753948675
|
0.00001
|
NM_001267550.2(TTN):c.67636+2T>C
|
rs1575872984
|
0.00001
|
NM_001267550.2(TTN):c.68224+2T>C
|
rs1321711553
|
0.00001
|
NM_001267550.2(TTN):c.68527+1G>C
|
rs766984722
|
0.00001
|
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs)
|
rs757603460
|
0.00001
|
NM_001267550.2(TTN):c.69420del (p.Gly23141fs)
|
rs1330960948
|
0.00001
|
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter)
|
rs794729284
|
0.00001
|
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)
|
rs545954490
|
0.00001
|
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs)
|
rs1205409465
|
0.00001
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)
|
rs1419374180
|
0.00001
|
NM_001267550.2(TTN):c.79882C>T (p.Arg26628Ter)
|
rs1373472758
|
0.00001
|
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter)
|
rs766840243
|
0.00001
|
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)
|
rs1575649368
|
0.00001
|
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs)
|
rs794729351
|
0.00001
|
NM_001267550.2(TTN):c.84255C>A (p.Cys28085Ter)
|
rs772842119
|
0.00001
|
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter)
|
rs1060500525
|
0.00001
|
NM_001267550.2(TTN):c.86528T>G (p.Leu28843Ter)
|
rs752378132
|
0.00001
|
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter)
|
rs794729300
|
0.00001
|
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs)
|
rs1064794472
|
0.00001
|
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)
|
rs1553539391
|
0.00001
|
NM_001267550.2(TTN):c.93139C>T (p.Arg31047Ter)
|
rs1416323929
|
0.00001
|
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter)
|
rs869312121
|
0.00001
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
NM_001276379.2(LZTFL1):c.3G>A (p.Met1Ile)
|
rs1354476372
|
0.00001
|
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)
|
rs137854907
|
0.00001
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
NM_001283009.2(RTEL1):c.1037+1G>T
|
rs895722334
|
0.00001
|
NM_001283009.2(RTEL1):c.1266+2T>G
|
rs1444392809
|
0.00001
|
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)
|
rs370343781
|
0.00001
|
NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter)
|
rs768188490
|
0.00001
|
NM_001283009.2(RTEL1):c.2142-2A>G
|
rs2090696292
|
0.00001
|
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter)
|
rs377024903
|
0.00001
|
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter)
|
rs961593162
|
0.00001
|
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs)
|
rs773025155
|
0.00001
|
NM_001287.6(CLCN7):c.1681C>T (p.Arg561Trp)
|
rs2038701489
|
0.00001
|
NM_001287.6(CLCN7):c.739-18G>A
|
rs371893553
|
0.00001
|
NM_001292063.2(OTOG):c.3682+1G>A
|
rs554063575
|
0.00001
|
NM_001329943.3(KIAA0586):c.1885-2A>G
|
rs1431898844
|
0.00001
|
NM_001329943.3(KIAA0586):c.2944+4A>C
|
rs372841738
|
0.00001
|
NM_001329943.3(KIAA0586):c.3781+2T>C
|
rs1331480187
|
0.00001
|
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter)
|
rs1566903524
|
0.00001
|
NM_001329943.3(KIAA0586):c.4324-1G>A
|
rs753649082
|
0.00001
|
NM_001329943.3(KIAA0586):c.4324-2A>G
|
rs763815640
|
0.00001
|
NM_001353108.3(CEP63):c.1125T>G (p.Tyr375Ter)
|
rs753579827
|
0.00001
|
NM_001353108.3(CEP63):c.182_185dup (p.Lys62delinsAsnTer)
|
rs746387482
|
0.00001
|
NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg)
|
rs534494159
|
0.00001
|
NM_001367624.2(ZNF469):c.10707C>A (p.Cys3569Ter)
|
rs760186083
|
0.00001
|
NM_001374623.1(PNPLA1):c.335C>A (p.Ser112Tyr)
|
rs369445146
|
0.00001
|
NM_001374623.1(PNPLA1):c.350C>T (p.Thr117Met)
|
rs371307766
|
0.00001
|
NM_001374623.1(PNPLA1):c.614C>T (p.Pro205Leu)
|
rs766215523
|
0.00001
|
NM_001378454.1(ALMS1):c.10078+1G>T
|
rs765075310
|
0.00001
|
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)
|
rs1275113273
|
0.00001
|
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)
|
rs1192396248
|
0.00001
|
NM_001378454.1(ALMS1):c.11669-1G>A
|
rs750737346
|
0.00001
|
NM_001378454.1(ALMS1):c.12299-2A>G
|
rs759788656
|
0.00001
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)
|
rs750326619
|
0.00001
|
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs)
|
rs1296683633
|
0.00001
|
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter)
|
rs1558649531
|
0.00001
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter)
|
rs759024519
|
0.00001
|
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)
|
rs749339938
|
0.00001
|
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)
|
rs771994237
|
0.00001
|
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter)
|
rs761071372
|
0.00001
|
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)
|
rs761713440
|
0.00001
|
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)
|
rs989080548
|
0.00001
|
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs)
|
rs748892226
|
0.00001
|
NM_001378454.1(ALMS1):c.7675-2A>G
|
rs748477695
|
0.00001
|
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter)
|
rs956247442
|
0.00001
|
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs)
|
rs754702823
|
0.00001
|
NM_001378609.3(OTOGL):c.1890-1G>T
|
rs777911261
|
0.00001
|
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
|
rs781252161
|
0.00001
|
NM_001378615.1(CC2D2A):c.3594+5G>A
|
rs863225181
|
0.00001
|
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr)
|
rs780190318
|
0.00001
|
NM_001379286.1(ZNF423):c.3274G>A (p.Val1092Ile)
|
rs759221881
|
0.00001
|
NM_001382391.1(CSPP1):c.1497-2A>C
|
rs766633448
|
0.00001
|
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904
|
0.00001
|
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)
|
rs267606932
|
0.00001
|
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter)
|
rs138983888
|
0.00001
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs)
|
rs781148814
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.3122+1G>T
|
rs982893820
|
0.00001
|
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter)
|
rs1200451014
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
NM_001384140.1(PCDH15):c.3806+2T>C
|
rs756692340
|
0.00001
|
NM_001384140.1(PCDH15):c.3807-2A>G
|
rs1328440878
|
0.00001
|
NM_001384140.1(PCDH15):c.3983+1G>T
|
rs758921360
|
0.00001
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384140.1(PCDH15):c.4211+2T>G
|
rs753832779
|
0.00001
|
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)
|
rs1384677442
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_001384474.1(LOXHD1):c.246-2A>G
|
rs763062406
|
0.00001
|
NM_001384474.1(LOXHD1):c.4531-2A>G
|
rs951333133
|
0.00001
|
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)
|
rs1598914701
|
0.00001
|
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter)
|
rs960741408
|
0.00001
|
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)
|
rs961865375
|
0.00001
|
NM_001384474.1(LOXHD1):c.5085+1G>T
|
rs1418245706
|
0.00001
|
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu)
|
rs1442825433
|
0.00001
|
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter)
|
rs1554117456
|
0.00001
|
NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter)
|
rs1171996547
|
0.00001
|
NM_001386140.1(MTTP):c.1868-2A>G
|
rs760547155
|
0.00001
|
NM_001386140.1(MTTP):c.1949del (p.Ile650fs)
|
rs1725952378
|
0.00001
|
NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter)
|
rs760855321
|
0.00001
|
NM_001393500.2(TOMT):c.73C>T (p.Arg25Ter)
|
rs1298804148
|
0.00001
|
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)
|
rs72557954
|
0.00001
|
NM_001510.4(GRID2):c.671G>A (p.Arg224Gln)
|
rs368143665
|
0.00001
|
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
NM_001692.4(ATP6V1B1):c.1060G>A (p.Asp354Asn)
|
rs782484337
|
0.00001
|
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter)
|
rs1572924733
|
0.00001
|
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr)
|
rs1193634362
|
0.00001
|
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541
|
0.00001
|
NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His)
|
rs769046350
|
0.00001
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg)
|
rs1057518943
|
0.00001
|
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)
|
rs199839840
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+1G>A
|
rs1057518588
|
0.00001
|
NM_002226.5(JAG2):c.493C>T (p.Arg165Ter)
|
rs751347948
|
0.00001
|
NM_002230.4(JUP):c.208+1G>A
|
rs373761090
|
0.00001
|
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)
|
rs138943405
|
0.00001
|
NM_002292.4(LAMB2):c.1564del (p.Cys522fs)
|
rs1377725272
|
0.00001
|
NM_002292.4(LAMB2):c.3109+1G>A
|
rs888830612
|
0.00001
|
NM_002292.4(LAMB2):c.3798-1G>C
|
rs1131690793
|
0.00001
|
NM_002292.4(LAMB2):c.440A>G (p.His147Arg)
|
rs387906644
|
0.00001
|
NM_002292.4(LAMB2):c.4573+1G>A
|
rs1387723456
|
0.00001
|
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)
|
rs121912488
|
0.00001
|
NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys)
|
rs765695793
|
0.00001
|
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp)
|
rs1270099780
|
0.00001
|
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met)
|
rs1398692057
|
0.00001
|
NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln)
|
rs779935967
|
0.00001
|
NM_002454.3(MTRR):c.1554_1557+3del
|
rs754619743
|
0.00001
|
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)
|
rs1293600145
|
0.00001
|
NM_002454.3(MTRR):c.401+1G>A
|
rs1400065323
|
0.00001
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
NM_002485.5(NBN):c.2070+2del
|
rs1057517075
|
0.00001
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002485.5(NBN):c.2184+1G>T
|
rs756363734
|
0.00001
|
NM_002485.5(NBN):c.2234+2T>G
|
rs142301194
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)
|
rs61750434
|
0.00001
|
NM_002617.4(PEX10):c.776+2T>C
|
rs1335685844
|
0.00001
|
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe)
|
rs1414973726
|
0.00001
|
NM_002617.4(PEX10):c.913-2A>C
|
rs758250423
|
0.00001
|
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg)
|
rs796052906
|
0.00001
|
NM_002693.3(POLG):c.3104+2T>A
|
rs747632869
|
0.00001
|
NM_002857.4(PEX19):c.346+1G>A
|
rs75072667
|
0.00001
|
NM_002860.4(ALDH18A1):c.88+1G>A
|
rs556267618
|
0.00001
|
NM_002906.4(RDX):c.1135C>T (p.Arg379Ter)
|
rs772146113
|
0.00001
|
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter)
|
rs1426432774
|
0.00001
|
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)
|
rs373519519
|
0.00001
|
NM_003332.4(TYROBP):c.141del (p.Met48fs)
|
rs386833840
|
0.00001
|
NM_003383.5(VLDLR):c.1666C>T (p.Arg556Ter)
|
rs141396971
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003384.3(VRK1):c.889+1G>T
|
rs1482696609
|
0.00001
|
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg)
|
rs1057523689
|
0.00001
|
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)
|
rs104894655
|
0.00001
|
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter)
|
rs141019458
|
0.00001
|
NM_003673.4(TCAP):c.75G>A (p.Trp25Ter)
|
rs778851652
|
0.00001
|
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly)
|
rs922800309
|
0.00001
|
NM_003846.3(PEX11B):c.1A>G (p.Met1Val)
|
rs782262926
|
0.00001
|
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)
|
rs781984979
|
0.00001
|
NM_003896.4(ST3GAL5):c.82+1G>C
|
rs878854615
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)
|
rs72561723
|
0.00001
|
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)
|
rs111033451
|
0.00001
|
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
|
rs28931593
|
0.00001
|
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
|
rs111033361
|
0.00001
|
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)
|
rs727504302
|
0.00001
|
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)
|
rs781534323
|
0.00001
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)
|
rs397516873
|
0.00001
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)
|
rs786204690
|
0.00001
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
NM_004100.5(EYA4):c.1109G>A (p.Arg370His)
|
rs143936434
|
0.00001
|
NM_004100.5(EYA4):c.1739-1G>A
|
rs797045088
|
0.00001
|
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)
|
rs386833844
|
0.00001
|
NM_004260.4(RECQL4):c.2059-1G>A
|
rs386833849
|
0.00001
|
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)
|
rs1561703331
|
0.00001
|
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)
|
rs1464253797
|
0.00001
|
NM_004525.3(LRP2):c.188-2A>G
|
rs760114690
|
0.00001
|
NM_004525.3(LRP2):c.2639+1G>A
|
rs746752313
|
0.00001
|
NM_004525.3(LRP2):c.3667+1G>A
|
rs752197557
|
0.00001
|
NM_004525.3(LRP2):c.9575G>A (p.Arg3192Gln)
|
rs753667280
|
0.00001
|
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)
|
rs770931044
|
0.00001
|
NM_004560.4(ROR2):c.175+1G>A
|
rs753069829
|
0.00001
|
NM_004560.4(ROR2):c.1970G>A (p.Arg657His)
|
rs529829552
|
0.00001
|
NM_004560.4(ROR2):c.904C>T (p.Arg302Cys)
|
rs767372181
|
0.00001
|
NM_004560.4(ROR2):c.950A>G (p.Tyr317Cys)
|
rs756479236
|
0.00001
|
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)
|
rs28939710
|
0.00001
|
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly)
|
rs527236079
|
0.00001
|
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter)
|
rs768255532
|
0.00001
|
NM_004813.4(PEX16):c.679C>T (p.Arg227Trp)
|
rs1064794320
|
0.00001
|
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)
|
rs769772100
|
0.00001
|
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)
|
rs769471341
|
0.00001
|
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)
|
rs766478634
|
0.00001
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004937.3(CTNS):c.61+2T>C
|
rs767289120
|
0.00001
|
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)
|
rs768600603
|
0.00001
|
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)
|
rs777219451
|
0.00001
|
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter)
|
rs1559302834
|
0.00001
|
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)
|
rs121912670
|
0.00001
|
NM_005219.5(DIAPH1):c.145-1G>A
|
rs763349669
|
0.00001
|
NM_005236.3(ERCC4):c.1102+1G>T
|
rs1314323456
|
0.00001
|
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys)
|
rs1455568421
|
0.00001
|
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)
|
rs1415687857
|
0.00001
|
NM_005709.4(USH1C):c.1211-3_1232del
|
rs1246699436
|
0.00001
|
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter)
|
rs1406678014
|
0.00001
|
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter)
|
rs761320763
|
0.00001
|
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter)
|
rs1335076773
|
0.00001
|
NM_006019.4(TCIRG1):c.-5+1G>T
|
rs917505107
|
0.00001
|
NM_006019.4(TCIRG1):c.1021-1G>T
|
rs1590807544
|
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.2066G>A (p.Trp689Ter)
|
rs1590817956
|
0.00001
|
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)
|
rs1338631330
|
0.00001
|
NM_006019.4(TCIRG1):c.787C>T (p.Gln263Ter)
|
rs1003722483
|
0.00001
|
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)
|
rs749361897
|
0.00001
|
NM_006118.4(HAX1):c.407del (p.His136fs)
|
rs748595772
|
0.00001
|
NM_006118.4(HAX1):c.663+1G>A
|
rs41313932
|
0.00001
|
NM_006208.3(ENPP1):c.2608-1G>A
|
rs149828062
|
0.00001
|
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)
|
rs1201878175
|
0.00001
|
NM_006397.3(RNASEH2A):c.323+1G>T
|
rs1388246689
|
0.00001
|
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)
|
rs397515480
|
0.00001
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu)
|
rs370564476
|
0.00001
|
NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter)
|
rs1287727763
|
0.00001
|
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)
|
rs1558498928
|
0.00001
|
NM_006642.5(SDCCAG8):c.1942C>T (p.Gln648Ter)
|
rs367572249
|
0.00001
|
NM_006642.5(SDCCAG8):c.307-1G>A
|
rs1460888769
|
0.00001
|
NM_006642.5(SDCCAG8):c.546+1G>A
|
rs756907665
|
0.00001
|
NM_006642.5(SDCCAG8):c.675+1G>A
|
rs1022080658
|
0.00001
|
NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter)
|
rs1251881194
|
0.00001
|
NM_006846.4(SPINK5):c.2423C>T (p.Thr808Ile)
|
rs1212676320
|
0.00001
|
NM_006846.4(SPINK5):c.2441+1G>A
|
rs1561701382
|
0.00001
|
NM_006846.4(SPINK5):c.2666+1G>A
|
rs1754362343
|
0.00001
|
NM_006846.4(SPINK5):c.2740-1G>C
|
rs1057518067
|
0.00001
|
NM_006846.4(SPINK5):c.81+5G>A
|
rs771730802
|
0.00001
|
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr)
|
rs121908943
|
0.00001
|
NM_006892.4(DNMT3B):c.1957G>A (p.Asp653Asn)
|
rs1438362757
|
0.00001
|
NM_006892.4(DNMT3B):c.2281G>C (p.Glu761Gln)
|
rs767814649
|
0.00001
|
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs)
|
rs1368779496
|
0.00001
|
NM_006892.4(DNMT3B):c.2421-11G>A
|
rs547940069
|
0.00001
|
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys)
|
rs201579632
|
0.00001
|
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln)
|
rs121908946
|
0.00001
|
NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly)
|
rs1180294322
|
0.00001
|
NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe)
|
rs767581950
|
0.00001
|
NM_006946.4(SPTBN2):c.1843C>T (p.Arg615Trp)
|
rs1207850001
|
0.00001
|
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp)
|
rs199921604
|
0.00001
|
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg)
|
rs777457079
|
0.00001
|
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)
|
rs782269909
|
0.00001
|
NM_012208.4(HARS2):c.259C>T (p.Arg87Cys)
|
rs754069818
|
0.00001
|
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)
|
rs764260054
|
0.00001
|
NM_013322.3(SNX10):c.151C>T (p.Arg51Ter)
|
rs1353879401
|
0.00001
|
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)
|
rs190285831
|
0.00001
|
NM_013382.7(POMT2):c.1253+1G>A
|
rs1475161693
|
0.00001
|
NM_013382.7(POMT2):c.1485-2_1485-1del
|
rs1185491348
|
0.00001
|
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly)
|
rs760916142
|
0.00001
|
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
|
rs201883601
|
0.00001
|
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)
|
rs1057517250
|
0.00001
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)
|
rs863224916
|
0.00001
|
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)
|
rs1057516625
|
0.00001
|
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)
|
rs769212398
|
0.00001
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
NM_014363.6(SACS):c.1869del (p.Arg624fs)
|
rs1006060877
|
0.00001
|
NM_014363.6(SACS):c.3066del (p.Asn1025fs)
|
rs1057516767
|
0.00001
|
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)
|
rs139805032
|
0.00001
|
NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter)
|
rs1027429746
|
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.5122del (p.Ala1708fs)
|
rs1485885260
|
0.00001
|
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)
|
rs946368716
|
0.00001
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)
|
rs780184251
|
0.00001
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
|
rs750181262
|
0.00001
|
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)
|
rs1213203489
|
0.00001
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)
|
rs886041949
|
0.00001
|
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter)
|
rs149055711
|
0.00001
|
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter)
|
rs755288504
|
0.00001
|
NM_014425.5(INVS):c.2786+1G>A
|
rs935629850
|
0.00001
|
NM_014425.5(INVS):c.796+5G>A
|
rs1272619479
|
0.00001
|
NM_014780.5(CUL7):c.2965T>G (p.Tyr989Asp)
|
rs1295466248
|
0.00001
|
NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro)
|
rs759300846
|
0.00001
|
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter)
|
rs387907106
|
0.00001
|
NM_014875.3(KIF14):c.103C>T (p.Arg35Ter)
|
rs774318019
|
0.00001
|
NM_014906.5(PPM1E):c.*1892T>A
|
rs1567903706
|
0.00001
|
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter)
|
rs765277720
|
0.00001
|
NM_014956.5(CEP164):c.1724+1G>A
|
rs1489883516
|
0.00001
|
NM_014956.5(CEP164):c.2066+1G>A
|
rs1279037770
|
0.00001
|
NM_014956.5(CEP164):c.2493+1G>A
|
rs778819060
|
0.00001
|
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)
|
rs774951398
|
0.00001
|
NM_014956.5(CEP164):c.2760+1G>T
|
rs1269878493
|
0.00001
|
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)
|
rs387907310
|
0.00001
|
NM_015046.7(SETX):c.202C>T (p.Arg68Cys)
|
rs771481623
|
0.00001
|
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)
|
rs1169623576
|
0.00001
|
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)
|
rs773379832
|
0.00001
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)
|
rs1331217337
|
0.00001
|
NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg)
|
rs183776349
|
0.00001
|
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)
|
rs29001665
|
0.00001
|
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter)
|
rs1430741326
|
0.00001
|
NM_015102.5(NPHP4):c.1504-1G>A
|
rs1204924769
|
0.00001
|
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter)
|
rs775612958
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)
|
rs776941281
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
|
rs745413543
|
0.00001
|
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)
|
rs751444506
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter)
|
rs201081228
|
0.00001
|
NM_015272.5(RPGRIP1L):c.230+1G>A
|
rs786204135
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)
|
rs1456208953
|
0.00001
|
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs)
|
rs990678342
|
0.00001
|
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
|
rs993394322
|
0.00001
|
NM_015272.5(RPGRIP1L):c.776+1G>A
|
rs771226563
|
0.00001
|
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter)
|
rs386834001
|
0.00001
|
NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro)
|
rs386834004
|
0.00001
|
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn)
|
rs386834008
|
0.00001
|
NM_015378.4(VPS13D):c.946C>T (p.Arg316Ter)
|
rs758368974
|
0.00001
|
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)
|
rs387906948
|
0.00001
|
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)
|
rs267607027
|
0.00001
|
NM_015474.4(SAMHD1):c.509+1G>A
|
rs1192315307
|
0.00001
|
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser)
|
rs121434516
|
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_015662.3(IFT172):c.1525-1G>A
|
rs370540673
|
0.00001
|
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)
|
rs761095604
|
0.00001
|
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)
|
rs999731005
|
0.00001
|
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter)
|
rs150246251
|
0.00001
|
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)
|
rs587777079
|
0.00001
|
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)
|
rs773601814
|
0.00001
|
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)
|
rs778260923
|
0.00001
|
NM_015702.3(MMADHC):c.10-1G>C
|
rs1573880177
|
0.00001
|
NM_015702.3(MMADHC):c.154+1G>A
|
rs1385597423
|
0.00001
|
NM_015702.3(MMADHC):c.372+1G>A
|
rs755561981
|
0.00001
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)
|
rs797045567
|
0.00001
|
NM_016098.4(MPC1):c.290G>A (p.Arg97Gln)
|
rs1779135449
|
0.00001
|
NM_016122.3(CEP83):c.550-1G>A
|
rs1555237944
|
0.00001
|
NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter)
|
rs1164484724
|
0.00001
|
NM_016239.4(MYO15A):c.10491+2T>C
|
rs1390498839
|
0.00001
|
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met)
|
rs773648511
|
0.00001
|
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter)
|
rs763075073
|
0.00001
|
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter)
|
rs781546107
|
0.00001
|
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn)
|
rs767270134
|
0.00001
|
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr)
|
rs576399072
|
0.00001
|
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys)
|
rs371352836
|
0.00001
|
NM_016239.4(MYO15A):c.6841G>A (p.Asp2281Asn)
|
rs371717411
|
0.00001
|
NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His)
|
rs773476384
|
0.00001
|
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs)
|
rs757070287
|
0.00001
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
NM_016529.6(ATP8A2):c.1058-2A>G
|
rs1304832284
|
0.00001
|
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)
|
rs1304109530
|
0.00001
|
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter)
|
rs755133567
|
0.00001
|
NM_016529.6(ATP8A2):c.3272+1G>A
|
rs779337270
|
0.00001
|
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)
|
rs193302867
|
0.00001
|
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)
|
rs193302864
|
0.00001
|
NM_017433.5(MYO3A):c.3003del (p.Tyr1002fs)
|
rs746055369
|
0.00001
|
NM_017721.5(CC2D1A):c.511_513+1del
|
rs777057767
|
0.00001
|
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)
|
rs138745073
|
0.00001
|
NM_017739.4(POMGNT1):c.1110+1G>A
|
rs1657940058
|
0.00001
|
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)
|
rs386834014
|
0.00001
|
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)
|
rs760705290
|
0.00001
|
NM_017739.4(POMGNT1):c.1605-1G>C
|
rs770219373
|
0.00001
|
NM_017739.4(POMGNT1):c.1813C>T (p.Arg605Cys)
|
rs886044567
|
0.00001
|
NM_017739.4(POMGNT1):c.236-1G>T
|
rs1057516477
|
0.00001
|
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
|
rs386834034
|
0.00001
|
NM_017739.4(POMGNT1):c.652+1G>T
|
rs386834035
|
0.00001
|
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
|
rs386834039
|
0.00001
|
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter)
|
rs760971749
|
0.00001
|
NM_017777.4(MKS1):c.1095+1G>A
|
rs747740477
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
NM_017777.4(MKS1):c.1497del (p.Phe499fs)
|
rs780161503
|
0.00001
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
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_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_017807.4(OSGEP):c.157A>T (p.Ile53Phe)
|
rs780944919
|
0.00001
|
NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter)
|
rs140696201
|
0.00001
|
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln)
|
rs759468416
|
0.00001
|
NM_018075.5(ANO10):c.1163-9A>G
|
rs1368543726
|
0.00001
|
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter)
|
rs748529285
|
0.00001
|
NM_018136.5(ASPM):c.2488-1G>C
|
rs1321892596
|
0.00001
|
NM_018136.5(ASPM):c.2T>C (p.Met1Thr)
|
rs761447719
|
0.00001
|
NM_018136.5(ASPM):c.4707C>A (p.Tyr1569Ter)
|
rs1657341426
|
0.00001
|
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter)
|
rs587783275
|
0.00001
|
NM_018136.5(ASPM):c.9444+1G>T
|
rs1656796807
|
0.00001
|
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)
|
rs199422194
|
0.00001
|
NM_018249.6(CDK5RAP2):c.4114C>T (p.Arg1372Ter)
|
rs746967357
|
0.00001
|
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter)
|
rs587783390
|
0.00001
|
NM_018249.6(CDK5RAP2):c.4963+1G>A
|
rs760836130
|
0.00001
|
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
|
rs773432002
|
0.00001
|
NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile)
|
rs751828447
|
0.00001
|
NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter)
|
rs2077134911
|
0.00001
|
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter)
|
rs797045450
|
0.00001
|
NM_018451.5(CENPJ):c.3367-1G>A
|
rs763715733
|
0.00001
|
NM_018451.5(CENPJ):c.3893G>A (p.Arg1298Gln)
|
rs1477524771
|
0.00001
|
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)
|
rs1064794819
|
0.00001
|
NM_018718.3(CEP41):c.278-1G>A
|
rs1796956272
|
0.00001
|
NM_018718.3(CEP41):c.942_943del (p.Glu315fs)
|
rs1584867379
|
0.00001
|
NM_018965.4(TREM2):c.132G>A (p.Trp44Ter)
|
rs104894001
|
0.00001
|
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter)
|
rs104893998
|
0.00001
|
NM_018965.4(TREM2):c.313del (p.Ala105fs)
|
rs386834141
|
0.00001
|
NM_018965.4(TREM2):c.377T>G (p.Val126Gly)
|
rs121908402
|
0.00001
|
NM_018965.4(TREM2):c.482+2T>C
|
rs386834144
|
0.00001
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
|
rs538412810
|
0.00001
|
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp)
|
rs756789619
|
0.00001
|
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)
|
rs1588830568
|
0.00001
|
NM_020247.5(COQ8A):c.588+1G>C
|
rs1474965033
|
0.00001
|
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)
|
rs119468005
|
0.00001
|
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln)
|
rs758239674
|
0.00001
|
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter)
|
rs749969789
|
0.00001
|
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val)
|
rs755985958
|
0.00001
|
NM_020631.6(PLEKHG5):c.1132-2A>C
|
rs1557742277
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)
|
rs1443883930
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2257+1G>A
|
rs145809731
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)
|
rs28939081
|
0.00001
|
NM_020632.3(ATP6V0A4):c.52C>T (p.Gln18Ter)
|
rs1384393001
|
0.00001
|
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu)
|
rs193922704
|
0.00001
|
NM_020661.4(AICDA):c.544-2A>G
|
rs772388034
|
0.00001
|
NM_020751.3(COG6):c.1585-2A>G
|
rs200812708
|
0.00001
|
NM_020921.4(NIN):c.6079-1686G>A
|
rs1310109020
|
0.00001
|
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter)
|
rs961245497
|
0.00001
|
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter)
|
rs866435487
|
0.00001
|
NM_020964.3(EPG5):c.1678-1G>A
|
rs755928939
|
0.00001
|
NM_020964.3(EPG5):c.1A>G (p.Met1Val)
|
rs1135402732
|
0.00001
|
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter)
|
rs780889226
|
0.00001
|
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter)
|
rs863225064
|
0.00001
|
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter)
|
rs767638289
|
0.00001
|
NM_021628.3(ALOXE3):c.2065C>T (p.Arg689Trp)
|
rs1311967606
|
0.00001
|
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter)
|
rs267606866
|
0.00001
|
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)
|
rs386834146
|
0.00001
|
NM_021830.5(TWNK):c.737A>G (p.Asn246Ser)
|
rs754081544
|
0.00001
|
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)
|
rs374997012
|
0.00001
|
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)
|
rs397509417
|
0.00001
|
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu)
|
rs764158202
|
0.00001
|
NM_021942.6(TRAPPC11):c.3189+1G>A
|
rs1170374164
|
0.00001
|
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)
|
rs397509425
|
0.00001
|
NM_021971.4(GMPPB):c.91A>G (p.Lys31Glu)
|
rs764625823
|
0.00001
|
NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys)
|
rs780867515
|
0.00001
|
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter)
|
rs1264582344
|
0.00001
|
NM_022089.4(ATP13A2):c.1845+1G>A
|
rs2076970587
|
0.00001
|
NM_022089.4(ATP13A2):c.2529+1G>A
|
rs776448394
|
0.00001
|
NM_022098.4(XPNPEP3):c.645del (p.Ser216fs)
|
rs751910922
|
0.00001
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_022124.6(CDH23):c.4206+1G>A
|
rs1204500829
|
0.00001
|
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn)
|
rs1057519500
|
0.00001
|
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)
|
rs773004408
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022124.6(CDH23):c.6533T>A (p.Ile2178Asn)
|
rs772953914
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser)
|
rs780917129
|
0.00001
|
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)
|
rs936479651
|
0.00001
|
NM_022124.6(CDH23):c.8146del (p.Asp2716fs)
|
rs1564804195
|
0.00001
|
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met)
|
rs556148352
|
0.00001
|
NM_022336.4(EDAR):c.175-2A>G
|
rs757233170
|
0.00001
|
NM_022336.4(EDAR):c.973C>T (p.Arg325Trp)
|
rs755654853
|
0.00001
|
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val)
|
rs768528387
|
0.00001
|
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr)
|
rs1553128102
|
0.00001
|
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs)
|
rs775978677
|
0.00001
|
NM_022834.5(VWA1):c.1088_1091dup (p.Tyr364Ter)
|
rs1557770517
|
0.00001
|
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
|
rs104894681
|
0.00001
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)
|
rs104894692
|
0.00001
|
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)
|
rs752582904
|
0.00001
|
NM_024301.5(FKRP):c.968G>A (p.Arg323His)
|
rs1349031936
|
0.00001
|
NM_024417.5(FDXR):c.472G>A (p.Val158Met)
|
rs1441084539
|
0.00001
|
NM_024570.4(RNASEH2B):c.437-1G>A
|
rs777313709
|
0.00001
|
NM_024570.4(RNASEH2B):c.65-13G>A
|
rs1176797481
|
0.00001
|
NM_024570.4(RNASEH2B):c.698+1G>A
|
rs367915667
|
0.00001
|
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala)
|
rs1441937959
|
0.00001
|
NM_024596.5(MCPH1):c.2214+2T>C
|
rs575037500
|
0.00001
|
NM_024649.5(BBS1):c.1111-2A>G
|
rs761969357
|
0.00001
|
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)
|
rs1014835928
|
0.00001
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)
|
rs878855095
|
0.00001
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_024649.5(BBS1):c.48-2A>C
|
rs764245266
|
0.00001
|
NM_024649.5(BBS1):c.518+1G>A
|
rs771517209
|
0.00001
|
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)
|
rs761760689
|
0.00001
|
NM_024649.5(BBS1):c.723+1G>C
|
rs1295318869
|
0.00001
|
NM_024649.5(BBS1):c.830+2T>C
|
rs1856209722
|
0.00001
|
NM_024649.5(BBS1):c.952-1G>A
|
rs1057516661
|
0.00001
|
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter)
|
rs1555202657
|
0.00001
|
NM_024685.4(BBS10):c.1184dup (p.His395fs)
|
rs786204573
|
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.198-1G>C
|
rs1555202740
|
0.00001
|
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)
|
rs1555202697
|
0.00001
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
NM_024753.5(TTC21B):c.1087+1G>A
|
rs776301212
|
0.00001
|
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter)
|
rs1183062277
|
0.00001
|
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter)
|
rs779134983
|
0.00001
|
NM_024753.5(TTC21B):c.3102-2A>G
|
rs779472675
|
0.00001
|
NM_024753.5(TTC21B):c.553-2A>G
|
rs773580610
|
0.00001
|
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)
|
rs201010803
|
0.00001
|
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter)
|
rs1361547443
|
0.00001
|
NM_024989.4(PGAP1):c.2286+1G>A
|
rs1406991265
|
0.00001
|
NM_025074.7(FRAS1):c.10948C>T (p.Gln3650Ter)
|
rs878853009
|
0.00001
|
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter)
|
rs755750961
|
0.00001
|
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser)
|
rs771251344
|
0.00001
|
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter)
|
rs777438557
|
0.00001
|
NM_025074.7(FRAS1):c.934C>T (p.Gln312Ter)
|
rs377137481
|
0.00001
|
NM_025077.4(TOE1):c.-37T>A
|
rs759654665
|
0.00001
|
NM_025114.4(CEP290):c.1190-2A>G
|
rs200818935
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.1712-2A>T
|
rs764551108
|
0.00001
|
NM_025114.4(CEP290):c.181-2A>G
|
rs886042359
|
0.00001
|
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
|
rs762633090
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter)
|
rs752144368
|
0.00001
|
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter)
|
rs1267970567
|
0.00001
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
NM_025114.4(CEP290):c.3309+2T>C
|
rs1007902545
|
0.00001
|
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter)
|
rs746305733
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)
|
rs1375836634
|
0.00001
|
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)
|
rs1374014119
|
0.00001
|
NM_025132.4(WDR19):c.1477G>C (p.Asp493His)
|
rs587777349
|
0.00001
|
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg)
|
rs1215108056
|
0.00001
|
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)
|
rs1237494778
|
0.00001
|
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)
|
rs771148519
|
0.00001
|
NM_025132.4(WDR19):c.1982+2T>C
|
rs780847651
|
0.00001
|
NM_025132.4(WDR19):c.2363+1G>A
|
rs886041912
|
0.00001
|
NM_025132.4(WDR19):c.3262-2A>G
|
rs753291151
|
0.00001
|
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)
|
rs587777351
|
0.00001
|
NM_025132.4(WDR19):c.890+1G>T
|
rs1338996032
|
0.00001
|
NM_025216.3(WNT10A):c.1028C>T (p.Pro343Leu)
|
rs1944675271
|
0.00001
|
NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys)
|
rs764658964
|
0.00001
|
NM_030943.4(AMN):c.844-1G>C
|
rs969552874
|
0.00001
|
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter)
|
rs121918297
|
0.00001
|
NM_031475.3(ESPN):c.2524C>T (p.Arg842Ter)
|
rs1644131579
|
0.00001
|
NM_031885.5(BBS2):c.1080+2T>C
|
rs771554923
|
0.00001
|
NM_031885.5(BBS2):c.1112del (p.Asp371fs)
|
rs1472488128
|
0.00001
|
NM_031885.5(BBS2):c.117+1G>A
|
rs1964866367
|
0.00001
|
NM_031885.5(BBS2):c.1398-2A>G
|
rs767609303
|
0.00001
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
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.1946_1952del (p.Asp649fs)
|
rs745951028
|
0.00001
|
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)
|
rs1597001788
|
0.00001
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)
|
rs750506474
|
0.00001
|
NM_031885.5(BBS2):c.345+5G>A
|
rs1430976492
|
0.00001
|
NM_031885.5(BBS2):c.471G>A (p.Thr157=)
|
rs749983428
|
0.00001
|
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)
|
rs767373822
|
0.00001
|
NM_031885.5(BBS2):c.563del (p.Ile188fs)
|
rs1367927635
|
0.00001
|
NM_031885.5(BBS2):c.612+1G>T
|
rs1964531402
|
0.00001
|
NM_031885.5(BBS2):c.717+1G>A
|
rs1047075022
|
0.00001
|
NM_031885.5(BBS2):c.940+1del
|
rs746171104
|
0.00001
|
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)
|
rs797045155
|
0.00001
|
NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu)
|
rs765574676
|
0.00001
|
NM_032119.4(ADGRV1):c.13232-1G>A
|
rs764583867
|
0.00001
|
NM_032119.4(ADGRV1):c.13654-5C>T
|
rs367554300
|
0.00001
|
NM_032119.4(ADGRV1):c.14972+1G>T
|
rs780011571
|
0.00001
|
NM_032119.4(ADGRV1):c.9749-2del
|
rs1751549898
|
0.00001
|
NM_032119.4(ADGRV1):c.9907-1G>A
|
rs769286352
|
0.00001
|
NM_032120.4(RBM48):c.835A>G (p.Thr279Ala)
|
rs372607453
|
0.00001
|
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu)
|
rs76091978
|
0.00001
|
NM_032237.5(POMK):c.907C>T (p.Arg303Ter)
|
rs528307346
|
0.00001
|
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter)
|
rs1896432430
|
0.00001
|
NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs)
|
rs2065896039
|
0.00001
|
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)
|
rs28938468
|
0.00001
|
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)
|
rs772548770
|
0.00001
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
0.00001
|
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)
|
rs747516133
|
0.00001
|
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)
|
rs755919767
|
0.00001
|
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)
|
rs760838030
|
0.00001
|
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)
|
rs1335391766
|
0.00001
|
NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro)
|
rs372355939
|
0.00001
|
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter)
|
rs1185183557
|
0.00001
|
NM_138691.3(TMC1):c.1810C>T (p.Arg604Ter)
|
rs777777359
|
0.00001
|
NM_138691.3(TMC1):c.564C>A (p.Tyr188Ter)
|
rs1178631956
|
0.00001
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
NM_138694.4(PKHD1):c.106A>G (p.Thr36Ala)
|
rs758858303
|
0.00001
|
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr)
|
rs1229349983
|
0.00001
|
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
NM_138694.4(PKHD1):c.11398+2T>C
|
rs754038777
|
0.00001
|
NM_138694.4(PKHD1):c.11399-1G>A
|
rs1183281205
|
0.00001
|
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)
|
rs746471701
|
0.00001
|
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)
|
rs1295732689
|
0.00001
|
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)
|
rs761704401
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val)
|
rs776845008
|
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.1510C>T (p.Gln504Ter)
|
rs759322460
|
0.00001
|
NM_138694.4(PKHD1):c.1694-2A>G
|
rs1807619777
|
0.00001
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
NM_138694.4(PKHD1):c.1964+1G>T
|
rs1385712943
|
0.00001
|
NM_138694.4(PKHD1):c.1A>G (p.Met1Val)
|
rs376987651
|
0.00001
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter)
|
rs371928571
|
0.00001
|
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys)
|
rs752646435
|
0.00001
|
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr)
|
rs764696718
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.2821+2T>C
|
rs1394431107
|
0.00001
|
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)
|
rs747895516
|
0.00001
|
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)
|
rs757854282
|
0.00001
|
NM_138694.4(PKHD1):c.3229-2del
|
rs1057516283
|
0.00001
|
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr)
|
rs78624439
|
0.00001
|
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter)
|
rs1554200780
|
0.00001
|
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs)
|
rs797044713
|
0.00001
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys)
|
rs141093030
|
0.00001
|
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met)
|
rs1370869109
|
0.00001
|
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr)
|
rs375437755
|
0.00001
|
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)
|
rs794727566
|
0.00001
|
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)
|
rs137852946
|
0.00001
|
NM_138694.4(PKHD1):c.53-1G>A
|
rs775511838
|
0.00001
|
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)
|
rs774759689
|
0.00001
|
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter)
|
rs1313206550
|
0.00001
|
NM_138694.4(PKHD1):c.603-2A>G
|
rs757521428
|
0.00001
|
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)
|
rs1413693039
|
0.00001
|
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
|
rs749454235
|
0.00001
|
NM_138694.4(PKHD1):c.6808+1G>T
|
rs1217968843
|
0.00001
|
NM_138694.4(PKHD1):c.707+1G>A
|
rs748365248
|
0.00001
|
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter)
|
rs794727680
|
0.00001
|
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)
|
rs398124492
|
0.00001
|
NM_138694.4(PKHD1):c.7350+653A>G
|
rs1240212722
|
0.00001
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)
|
rs886061616
|
0.00001
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_138694.4(PKHD1):c.8318T>G (p.Val2773Gly)
|
rs1471306684
|
0.00001
|
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr)
|
rs398124496
|
0.00001
|
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)
|
rs794727759
|
0.00001
|
NM_138694.4(PKHD1):c.8554+1G>A
|
rs1790925351
|
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.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
|
rs765020336
|
0.00001
|
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg)
|
rs367678592
|
0.00001
|
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)
|
rs1374086784
|
0.00001
|
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)
|
rs757946548
|
0.00001
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
NM_138694.4(PKHD1):c.9371A>G (p.His3124Arg)
|
rs373241537
|
0.00001
|
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys)
|
rs957419550
|
0.00001
|
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)
|
rs1242089464
|
0.00001
|
NM_138694.4(PKHD1):c.9623C>T (p.Thr3208Ile)
|
rs1263208576
|
0.00001
|
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)
|
rs1057516577
|
0.00001
|
NM_138694.4(PKHD1):c.977-1G>A
|
rs1808864196
|
0.00001
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
NM_138694.4(PKHD1):c.9907del (p.Ser3303fs)
|
rs1785247939
|
0.00001
|
NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro)
|
rs1565312540
|
0.00001
|
NM_139343.3(BIN1):c.1461+1G>A
|
rs764951306
|
0.00001
|
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)
|
rs777176261
|
0.00001
|
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter)
|
rs143481438
|
0.00001
|
NM_144508.5(KNL1):c.1521A>G (p.Gln507=)
|
rs979186313
|
0.00001
|
NM_144596.4(TTC8):c.265+1G>A
|
rs139234943
|
0.00001
|
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp)
|
rs200656442
|
0.00001
|
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs)
|
rs772840335
|
0.00001
|
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs)
|
rs1159758018
|
0.00001
|
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer)
|
rs1431987950
|
0.00001
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
NM_147127.5(EVC2):c.229-1G>T
|
rs1214848359
|
0.00001
|
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter)
|
rs770918273
|
0.00001
|
NM_147127.5(EVC2):c.3361-2A>G
|
rs1036371676
|
0.00001
|
NM_147127.5(EVC2):c.3361-2del
|
rs757914735
|
0.00001
|
NM_147127.5(EVC2):c.450+2T>C
|
rs781096099
|
0.00001
|
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)
|
rs761707323
|
0.00001
|
NM_147127.5(EVC2):c.62dup (p.Ala22fs)
|
rs1430962566
|
0.00001
|
NM_147127.5(EVC2):c.706+2T>C
|
rs1360260333
|
0.00001
|
NM_147127.5(EVC2):c.893del (p.His298fs)
|
rs777505711
|
0.00001
|
NM_147196.3(TMIE):c.241C>T (p.Arg81Cys)
|
rs28942096
|
0.00001
|
NM_152384.3(BBS5):c.209-2A>G
|
rs1477098739
|
0.00001
|
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)
|
rs121908581
|
0.00001
|
NM_152384.3(BBS5):c.413G>A (p.Arg138His)
|
rs179363897
|
0.00001
|
NM_152384.3(BBS5):c.817-1G>T
|
rs1466289570
|
0.00001
|
NM_152617.4(RNF168):c.493C>T (p.Arg165Ter)
|
rs148275050
|
0.00001
|
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)
|
rs1381368546
|
0.00001
|
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)
|
rs771456483
|
0.00001
|
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)
|
rs1269565757
|
0.00001
|
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)
|
rs1357690062
|
0.00001
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
0.00001
|
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter)
|
rs1284876635
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter)
|
rs1194574169
|
0.00001
|
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)
|
rs745448288
|
0.00001
|
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)
|
rs565073445
|
0.00001
|
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)
|
rs770872200
|
0.00001
|
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)
|
rs121918328
|
0.00001
|
NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe)
|
rs1939561839
|
0.00001
|
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=)
|
rs558637226
|
0.00001
|
NM_153240.5(NPHP3):c.2171+1G>A
|
rs1280230808
|
0.00001
|
NM_153240.5(NPHP3):c.2311-1G>C
|
rs1363032805
|
0.00001
|
NM_153240.5(NPHP3):c.2311-2A>G
|
rs1332659264
|
0.00001
|
NM_153240.5(NPHP3):c.2694-2A>T
|
rs1395411307
|
0.00001
|
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=)
|
rs1281725083
|
0.00001
|
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)
|
rs1007848349
|
0.00001
|
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln)
|
rs138630766
|
0.00001
|
NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter)
|
rs1278026061
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_153676.4(USH1C):c.104+1G>A
|
rs1287021691
|
0.00001
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153676.4(USH1C):c.2281-2A>G
|
rs921755529
|
0.00001
|
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)
|
rs758555088
|
0.00001
|
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)
|
rs1317951509
|
0.00001
|
NM_153676.4(USH1C):c.440A>G (p.His147Arg)
|
rs777591673
|
0.00001
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777
|
0.00001
|
NM_153676.4(USH1C):c.658C>T (p.Arg220Ter)
|
rs766327614
|
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.92G>A (p.Arg31Gln)
|
rs776511246
|
0.00001
|
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)
|
rs727503443
|
0.00001
|
NM_153700.2(STRC):c.4510del (p.Glu1504fs)
|
rs759816064
|
0.00001
|
NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter)
|
rs756606635
|
0.00001
|
NM_153704.6(TMEM67):c.1353del (p.Glu452fs)
|
rs749435317
|
0.00001
|
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)
|
rs775883520
|
0.00001
|
NM_153704.6(TMEM67):c.769A>G (p.Met257Val)
|
rs863225227
|
0.00001
|
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)
|
rs769957689
|
0.00001
|
NM_153717.3(EVC):c.1564-2A>G
|
rs1553886849
|
0.00001
|
NM_153717.3(EVC):c.175-9G>A
|
rs753317536
|
0.00001
|
NM_153717.3(EVC):c.1777-1G>A
|
rs1262933856
|
0.00001
|
NM_153717.3(EVC):c.1777-2A>G
|
rs909612975
|
0.00001
|
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter)
|
rs1714132239
|
0.00001
|
NM_153717.3(EVC):c.2098-1G>A
|
rs773019082
|
0.00001
|
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)
|
rs896581899
|
0.00001
|
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_153717.3(EVC):c.702+1G>A
|
rs1553867138
|
0.00001
|
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)
|
rs121908426
|
0.00001
|
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro)
|
rs1553259602
|
0.00001
|
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter)
|
rs1171657935
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu)
|
rs779116830
|
0.00001
|
NM_170784.3(MKKS):c.1175C>T (p.Thr392Met)
|
rs201183584
|
0.00001
|
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter)
|
rs753338844
|
0.00001
|
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)
|
rs74315399
|
0.00001
|
NM_170784.3(MKKS):c.251_252del (p.His84fs)
|
rs756259125
|
0.00001
|
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter)
|
rs758356262
|
0.00001
|
NM_170784.3(MKKS):c.380del (p.Cys127fs)
|
rs867346158
|
0.00001
|
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)
|
rs768929313
|
0.00001
|
NM_170784.3(MKKS):c.837del (p.Gly280fs)
|
rs776004321
|
0.00001
|
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val)
|
rs397517925
|
0.00001
|
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)
|
rs201866631
|
0.00001
|
NM_173551.5(ANKS6):c.1973-1G>A
|
rs1458080834
|
0.00001
|
NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg)
|
rs1380661508
|
0.00001
|
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter)
|
rs1470030897
|
0.00001
|
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys)
|
rs1233058112
|
0.00001
|
NM_176824.3(BBS7):c.198T>G (p.Ile66Met)
|
rs367765050
|
0.00001
|
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp)
|
rs761403504
|
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_176824.3(BBS7):c.849+1G>C
|
rs763719688
|
0.00001
|
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)
|
rs889417696
|
0.00001
|
NM_177400.3(NKX6-2):c.301C>A (p.Arg101Ser)
|
rs1207105923
|
0.00001
|
NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter)
|
rs751922029
|
0.00001
|
NM_178170.3(NEK8):c.828-1G>C
|
rs749866369
|
0.00001
|
NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys)
|
rs587777643
|
0.00001
|
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val)
|
rs762876554
|
0.00001
|
NM_182961.4(SYNE1):c.12528+1G>A
|
rs1012514808
|
0.00001
|
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter)
|
rs752224921
|
0.00001
|
NM_182961.4(SYNE1):c.26098C>T (p.Arg8700Ter)
|
rs1193193335
|
0.00001
|
NM_182961.4(SYNE1):c.6723+1G>C
|
rs779302145
|
0.00001
|
NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter)
|
rs780991031
|
0.00001
|
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys)
|
rs397515605
|
0.00001
|
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)
|
rs111033349
|
0.00001
|
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp)
|
rs530821443
|
0.00001
|
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter)
|
rs762511626
|
0.00001
|
NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr)
|
rs1326810030
|
0.00001
|
NM_198428.3(BBS9):c.214del (p.Val72fs)
|
rs1384578916
|
0.00001
|
NM_198428.3(BBS9):c.442+1G>C
|
rs587777811
|
0.00001
|
NM_198525.3(KIF7):c.1561-1G>A
|
rs763238645
|
0.00001
|
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
|
rs1271816211
|
0.00001
|
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)
|
rs1451348539
|
0.00001
|
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)
|
rs62636271
|
0.00001
|
NM_203486.3(DLL3):c.621C>A (p.Cys207Ter)
|
rs771875570
|
0.00001
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
NM_206933.4(USH2A):c.10586-2A>G
|
rs370327669
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)
|
rs111033265
|
0.00001
|
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)
|
rs779716464
|
0.00001
|
NM_206933.4(USH2A):c.11189A>G (p.Glu3730Gly)
|
rs1341032857
|
0.00001
|
NM_206933.4(USH2A):c.11473del (p.His3825fs)
|
rs774677256
|
0.00001
|
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)
|
rs1431048303
|
0.00001
|
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)
|
rs397517976
|
0.00001
|
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)
|
rs1262416703
|
0.00001
|
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)
|
rs1064793289
|
0.00001
|
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg)
|
rs397517982
|
0.00001
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
|
rs111033385
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13811+1G>A
|
rs1177257719
|
0.00001
|
NM_206933.4(USH2A):c.14134-3169A>G
|
rs998302546
|
0.00001
|
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.14791+5G>T
|
rs1235430504
|
0.00001
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NM_206933.4(USH2A):c.15200del (p.Ile5067fs)
|
rs1295968274
|
0.00001
|
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val)
|
rs1415484067
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)
|
rs775177930
|
0.00001
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)
|
rs758095361
|
0.00001
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
0.00001
|
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)
|
rs1162305984
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)
|
rs754374132
|
0.00001
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00001
|
NM_206933.4(USH2A):c.5572+1G>A
|
rs775293551
|
0.00001
|
NM_206933.4(USH2A):c.6050-1G>A
|
rs1035024403
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.7300+1G>C
|
rs1343780391
|
0.00001
|
NM_206933.4(USH2A):c.7301-1G>A
|
rs1438496892
|
0.00001
|
NM_206933.4(USH2A):c.7594+2del
|
rs762608746
|
0.00001
|
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
|
rs1424639717
|
0.00001
|
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
|
rs1064797134
|
0.00001
|
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)
|
rs749452910
|
0.00001
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)
|
rs111033456
|
0.00001
|
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)
|
rs748465849
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr)
|
rs983763783
|
0.00001
|
NM_206933.4(USH2A):c.9959-1G>A
|
rs970237364
|
0.00001
|
NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter)
|
rs767978562
|
0.00001
|
NM_207361.6(FREM2):c.8176+2dup
|
rs779126010
|
0.00001
|
NM_213599.3(ANO5):c.1120-1G>A
|
rs561719071
|
0.00001
|
NM_213599.3(ANO5):c.139-1del
|
rs868484837
|
0.00001
|
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp)
|
rs529961953
|
0.00001
|
NM_213599.3(ANO5):c.2030-2A>T
|
rs1187569251
|
0.00001
|
NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln)
|
rs926233739
|
0.00001
|
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu)
|
rs575008764
|
0.00001
|
NR_003051.3(RMRP):n.-13_-7dup7
|
rs1554651462
|
0.00001
|
NR_003051.3(RMRP):n.-16_-4dup
|
rs1554651422
|
0.00001
|
NR_003051.3(RMRP):n.-19_-12dup8
|
rs1554651505
|
0.00001
|
NR_003051.3(RMRP):n.-20_-2dup
|
rs1554651404
|
0.00001
|
NR_003051.3(RMRP):n.-20_-8dup
|
rs1823640657
|
0.00001
|
NR_003051.3(RMRP):n.-21_-2dup
|
rs1554651403
|
0.00001
|
NR_003051.3(RMRP):n.-22_-14dup
|
rs1563908167
|
0.00001
|
NR_003051.3(RMRP):n.-22_-15dupTACTCTGT
|
rs1563908212
|
0.00001
|
NR_003051.3(RMRP):n.-22_-4dup
|
rs1554651427
|
0.00001
|
NR_003051.3(RMRP):n.-23_-10dup
|
rs1554651489
|
0.00001
|
NR_003051.3(RMRP):n.-23_-5dup19
|
rs1554651428
|
0.00001
|
NR_003051.3(RMRP):n.-23_-6dup
|
rs1554651453
|
0.00001
|
NR_003051.3(RMRP):n.-25_-8dup18
|
rs1554651473
|
0.00001
|
NR_003051.3(RMRP):n.-3_1dupCGTG
|
rs1554651381
|
0.00001
|
NR_003051.4(RMRP):n.195G>A
|
rs761398394
|
0.00001
|
NR_003051.4(RMRP):n.42G>A
|
rs1156413585
|
0.00001
|
GRCh37/hg19 11q13.2(chr11:66290130-66305022)
|
|
|
GRCh37/hg19 11q23.3(chr11:117278620-117284002)
|
|
|
GRCh37/hg19 12p12.3(chr12:15800060-15865927)
|
|
|
GRCh37/hg19 1q21.3(chr1:154247426-154248177)
|
|
|
GRCh37/hg19 2p13.1(chr2:73617393-73789869)
|
|
|
GRCh37/hg19 2q31.1(chr2:170134234-170137049)
|
|
|
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
|
|
|
GRCh37/hg19 9q22.31(chr9:94381136-94851388)x1
|
|
|
GRCh37/hg19 9q22.31(chr9:94499721-94518293)x1
|
|
|
GRCh38/hg38 11q13.2(chr11:66507369-66525103)
|
|
|
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
|
|
|
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
|
|
|
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
|
|
|
GRCh38/hg38 15q24.1(chr15:72714229-72721948)
|
|
|
GRCh38/hg38 15q24.1(chr15:72714243-72720447)
|
|
|
GRCh38/hg38 16q13(chr16:56496014-56504285)
|
|
|
GRCh38/hg38 17p13.1(chr17:8171228-8185326)x1
|
|
|
GRCh38/hg38 2q31.1(chr2:169498679-169508441)
|
|
|
GRCh38/hg38 3q11.2(chr3:97779512-97864516)
|
|
|
GRCh38/hg38 3q11.2(chr3:97790061-97794169)
|
|
|
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
|
|
|
Multiple alleles
|
|
|
NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del
|
|
|
NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del
|
|
|
NC_000001.10:g.(243507634_243542022)_(243542166_243579003)del
|
|
|
NC_000001.10:g.(243542166_243579003)_(243579132_243581269)del
|
|
|
NC_000001.10:g.(68896860_68896964)_(68897269_68903869)del
|
|
|
NC_000001.10:g.(?_12022996)_(12026348_?)del
|
|
|
NC_000001.10:g.(?_216011333)_(216040512_?)del
|
|
|
NC_000001.10:g.(?_2337205)_(2338414_?)del
|
|
|
NC_000001.10:g.(?_236631511)_(236631596_?)dup
|
|
|
NC_000001.10:g.(?_243652316)_(243652442_?)dup
|
|
|
NC_000001.10:g.(?_45794978)_(45795123_?)del
|
|
|
NC_000001.10:g.(?_45796178)_(45796257_?)del
|
|
|
NC_000001.10:g.(?_45800053)_(45800193_?)dup
|
|
|
NC_000001.10:g.(?_45800057)_(45800189_?)dup
|
|
|
NC_000001.10:g.(?_46656135)_(46656466_?)dup
|
|
|
NC_000001.10:g.(?_5964816)_(6017448_?)del
|
|
|
NC_000001.10:g.[5910699_6038368dup;6051187_6158763dup]
|
|
|
NC_000001.11:g.(?_154274930)_(154275721_?)del
|
|
|
NC_000001.11:g.(?_216108034)_(216108100_?)del
|
|
|
NC_000001.11:g.(?_216462679)_(216462739_?)del
|
|
|
NC_000001.11:g.(?_45329300)_(45330563_?)del
|
|
|
NC_000001.11:g.113112478GA[1]
|
rs1570764426
|
|
NC_000002.11:g.(170034537_170037957)_(170072941_170076963)del
|
|
|
NC_000002.11:g.(71748035_71753349)_(71766370_71776479)dup
|
|
|
NC_000002.11:g.(73786270_73799388)_(73800552_73826527)del
|
|
|
NC_000002.11:g.(?_110880912)_(110886837_110889255)del
|
|
|
NC_000002.11:g.(?_166767817)_(166806254_?)dup
|
|
|
NC_000002.11:g.(?_179296824)_(179518254_?)del
|
|
|
NC_000002.11:g.(?_179405446)_(179408110_?)del
|
|
|
NC_000002.11:g.(?_179407899)_(179439276_?)del
|
|
|
NC_000002.11:g.(?_179419384)_(179419787_?)dup
|
|
|
NC_000002.11:g.(?_179419793)_(179515001_?)del
|
|
|
NC_000002.11:g.(?_179425803)_(179544953_?)del
|
|
|
NC_000002.11:g.(?_179425856)_(179596206_?)del
|
|
|
NC_000002.11:g.(?_179426336)_(179569921_?)del
|
|
|
NC_000002.11:g.(?_179443318)_(179669369_?)del
|
|
|
NC_000002.11:g.(?_219679083)_(219679753_?)del
|
|
|
NC_000002.11:g.(?_219679093)_(219679763_?)del
|
|
|
NC_000002.11:g.(?_63380029)_(63380729_?)dup
|
|
|
NC_000002.11:g.(?_71680752)_(71681217_71708012)del
|
|
|
NC_000002.11:g.(?_73651548)_(73653691_?)dup
|
|
|
NC_000002.11:g.(?_73682279)_(73682432_?)dup
|
|
|
NC_000002.11:g.(?_73716741)_(73718645_?)dup
|
|
|
NC_000002.11:g.(?_73716751)_(73762086_?)dup
|
|
|
NC_000002.11:g.(?_73777384)_(73800561_?)dup
|
|
|
NC_000002.11:g.(?_73799379)_(73800561_?)dup
|
|
|
NC_000002.12:g.(?_178528254)_(178544135_?)del
|
|
|
NC_000003.11:g.(132438675_132440806)_132441126del
|
|
|
NC_000003.11:g.(43640159_43641875)_(43647356_43663400)del
|
|
|
NC_000003.11:g.(97483822_97485475)_(97487075_97499002)del
|
|
|
NC_000003.11:g.(97487075_97499002)_(97499065_97499458)dup
|
|
|
NC_000003.11:g.(?_121491404)_(121500721_?)dup
|
|
|
NC_000003.11:g.93714775_(93722753_93754174)del
|
|
|
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
|
|
|
NC_000004.11:g.(17506099_17510893)_(17513858_?)del
|
|
|
NC_000004.11:g.(79362452_79366675)_(79366867_79367880)del
|
|
|
NC_000004.11:g.(93511438_94006145)_(94006431_94031898)del
|
|
|
NC_000004.11:g.(?_52890123)_(52890346_?)del
|
|
|
NC_000004.11:g.(?_5567008)_(5587839_?)dup
|
|
|
NC_000004.11:g.(?_5630335)_(5635926_?)del
|
|
|
NC_000004.11:g.(?_5713108)_(5714221_?)del
|
|
|
NC_000004.11:g.(?_5733142)_(5735172_?)del
|
|
|
NC_000004.11:g.(?_5785269)_(5803831_?)dup
|
|
|
NC_000005.10:g.(42700003_42711206)_(42719424_?)del
|
|
|
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
|
|
|
NC_000005.10:g.(?_119514971)_(119542004_?)del
|
|
|
NC_000005.10:g.(?_7883145)_(7892923_?)del
|
|
|
NC_000005.9:g.(37108574_37115061)_(37196099_37198803)dup
|
|
|
NC_000005.9:g.(60200701_60214091)_(60240906_?)del
|
|
|
NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del
|
|
|
NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del
|
|
|
NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup
|
|
|
NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del
|
|
|
NC_000005.9:g.(?_156074454)_(156074566_?)dup
|
|
|
NC_000005.9:g.(?_60169658)_(60183348_60186715)del
|
|
|
NC_000005.9:g.(?_7889198)_(7897370_?)del
|
|
|
NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
|
|
|
NC_000006.11:g.(51514019_51523749)_(51524768_51609182)del
|
|
|
NC_000006.11:g.(51712769_51720690)_(51777375_51798907)dup
|
|
|
NC_000006.11:g.(51752044_51768394)_(51774273_51776596)del
|
|
|
NC_000006.11:g.(51924841_51927316)_(51927459_51929752)del
|
|
|
NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
|
|
|
NC_000006.11:g.(?_137187765)_(137191141_?)dup
|
|
|
NC_000006.11:g.(?_137191125)_(137199715_?)del
|
|
|
NC_000006.11:g.(?_152466612)_(152643033_?)dup
|
|
|
NC_000006.11:g.(?_152652198)_(152658654_?)del
|
|
|
NC_000006.11:g.(?_152716631)_(152765733_?)dup
|
|
|
NC_000006.11:g.(?_42931601)_(42937735_?)del
|
|
|
NC_000006.11:g.(?_51483869)_(51524777_?)del
|
|
|
NC_000006.11:g.(?_51491785)_(51609350_?)del
|
|
|
NC_000006.11:g.(?_51491828)_(51492507_?)del
|
|
|
NC_000006.11:g.(?_51497353)_(51524777_?)del
|
|
|
NC_000006.11:g.(?_51609173)_(51611697_?)del
|
|
|
NC_000006.11:g.(?_51747238)_(51777384_?)dup
|
|
|
NC_000006.11:g.(?_51750655)_(51768850_?)dup
|
|
|
NC_000006.11:g.(?_51768385)_(51799130_?)dup
|
|
|
NC_000006.11:g.(?_51798898)_(51824834_?)dup
|
|
|
NC_000006.11:g.(?_51875087)_(51882447_?)dup
|
|
|
NC_000006.11:g.(?_51917864)_(51924850_?)dup
|
|
|
NC_000006.12:g.(?_51619071)_(51791383_?)del
|
|
|
NC_000006.12:g.(?_51855873)_(51912596_?)dup
|
|
|
NC_000007.13:g.(117120202_117144306)_(117144418_117149087)dup
|
|
|
NC_000007.13:g.(117144418_117149087)_(117149197_117170952)dup
|
|
|
NC_000007.13:g.(117149197_117170952)_(117243837_117246727)dup
|
|
|
NC_000007.13:g.(117171169_117174329)_(117174420_117175301)del
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|
|
NC_000007.13:g.(117174420_117175301)_(117175466_117176601)dup
|
|
|
NC_000007.13:g.(117176728_117180153)_(117180401_117182069)dup
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|
|
NC_000007.13:g.(117180401_117182069)_(117182163_117188694)del
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|
|
NC_000007.13:g.(117199710_117227792)_(117227888_117230406)dup
|
|
|
NC_000007.13:g.(117230494_117231987)_(117232712_117234983)dup
|
|
|
NC_000007.13:g.(117235113_117242879)_(117242918_117243585)dup
|
|
|
NC_000007.13:g.(117242918_117243585)_(117243837_117246727)dup
|
|
|
NC_000007.13:g.(117243837_117246727)_(117246808_117250572)dup
|
|
|
NC_000007.13:g.(117246808_117250572)_(117250724_117251634)dup
|
|
|
NC_000007.13:g.(117251863_117254666)_(117254768_117267575)dup
|
|
|
NC_000007.13:g.(117254768_117267575)_(117267825_117282491)dup
|
|
|
NC_000007.13:g.(117292986_117304741)_(117304915_117305512)dup
|
|
|
NC_000007.13:g.(117304915_117305512)_(117305619_117306961)dup
|
|
|
NC_000007.13:g.(33376235_33380508)_(33380586_33384192)del
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|
|
NC_000007.13:g.(33427757_33545074)_(33573789_33644476)del
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|
|
NC_000007.13:g.(?_117120016)_(117120202_117144306)del
|
|
|
NC_000007.13:g.(?_117144294)_(117254777_?)dup
|
|
|
NC_000007.13:g.(?_117170943)_(117171255_?)del
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|
|
NC_000007.13:g.(?_117170943)_(117243859_?)dup
|
|
|
NC_000007.13:g.(?_117199476)_(117199720_?)del
|
|
|
NC_000007.13:g.(?_117234961)_(117235122_?)del
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|
|
NC_000007.13:g.(?_117267556)_(117267869_?)del
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|
|
NC_000007.13:g.(?_117282468)_(117288374_?)del
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|
|
NC_000007.13:g.(?_16415707)_(16415876_?)del
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|
|
NC_000007.13:g.(?_16445666)_(16445982_?)dup
|
|
|
NC_000007.13:g.(?_33192293)_(33192483_?)dup
|
|
|
NC_000007.13:g.(?_33195240)_(33195324_?)dup
|
|
|
NC_000007.13:g.(?_33312604)_(33313588_?)dup
|
|
|
NC_000007.14:g.(?_117509024)_(117509152_?)dup
|
|
|
NC_000007.14:g.(?_117530889)_(117540356_?)del
|
|
|
NC_000007.14:g.(?_117548631)_(117548835_?)del
|
|
|
NC_000007.14:g.(?_16216046)_(16216217_?)del
|
|
|
NC_000007.14:g.(?_16258380)_(16259022_?)del
|
|
|
NC_000007.14:g.(?_16376072)_(16376261_?)del
|
|
|
NC_000008.10:g.(31007972_31012139)_(31031278_?)del
|
|
|
NC_000008.10:g.(?_145008466)_(145012880_?)dup
|
|
|
NC_000008.10:g.(?_145008783)_(145018851_?)dup
|
|
|
NC_000008.10:g.(?_30941261)_(30947513_?)del
|
|
|
NC_000008.10:g.(?_30941261)_(30947629_?)del
|
|
|
NC_000008.10:g.(?_30966107)_(30974054_?)del
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|
|
NC_000008.10:g.(?_30977883)_(31003833_?)del
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|
|
NC_000008.10:g.(?_31007847)_(31024756_?)del
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|
|
NC_000008.10:g.(?_68018120)_(68071392_?)dup
|
|
|
NC_000008.10:g.(?_68024187)_(68044335_?)dup
|
|
|
NC_000008.10:g.(?_75272366)_(75272551_?)del
|
|
|
NC_000008.10:g.(?_90947810)_(90960130_?)del
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|
|
NC_000008.10:g.(?_90955471)_(90958533_?)del
|
|
|
NC_000008.10:g.(?_90955471)_(90983528_?)dup
|
|
|
NC_000008.10:g.(?_90965634)_(90971364_?)del
|
|
|
NC_000008.10:g.(?_90970943)_(90971092_?)dup
|
|
|
NC_000008.10:g.(?_90992952)_(90993761_?)del
|
|
|
NC_000008.11:g.(?_31111605)_(31132516_?)del
|
|
|
NC_000008.11:g.(?_31150335)_(31167236_?)del
|
|
|
NC_000008.11:g.(?_89935576)_(89937081_?)del
|
|
|
NC_000008.11:g.(?_89935582)_(89937085_?)del
|
|
|
NC_000008.11:g.(?_89946130)_(89946305_?)del
|
|
|
NC_000008.11:g.(?_89978210)_(89980903_?)del
|
|
|
NC_000008.11:g.31059257_31099267del
|
|
|
NC_000009.11:g.(134388719_134390812)_(134399194_?)del
|
|
|
NC_000009.11:g.(?_134389752)_(134390863_?)del
|
|
|
NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3]
|
rs1563907859
|
|
NC_000009.12:g.35658022_35658032dup
|
rs1554651425
|
|
NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3]
|
rs727502778
|
|
NC_000009.12:g.35658023_35658038dup
|
rs1823637651
|
|
NC_000009.12:g.35658024_35658038dup
|
|
|
NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA
|
rs2131809783
|
|
NC_000009.12:g.35658025_35658039dup
|
rs1823639713
|
|
NC_000009.12:g.35658026_35658032dup
|
rs2131809964
|
|
NC_000009.12:g.35658026_35658037dup
|
rs2131809978
|
|
NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT
|
|
|
NC_000010.10:g.(50669603_50678227)_(50684357_50686399)dup
|
|
|
NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup
|
|
|
NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del
|
|
|
NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del
|
|
|
NC_000010.10:g.(73454017_73455174)_73468962del
|
|
|
NC_000010.10:g.(?_55580859)_(55591294_55600079)del
|
|
|
NC_000010.11:g.(?_71645831)_(71646617_?)del
|
|
|
NC_000010.11:g.53995649_54022892del
|
|
|
NC_000011.10:g.(?_2166470)_(2168675_?)del
|
|
|
NC_000011.10:g.(?_22218246)_(22221210_?)del
|
|
|
NC_000011.10:g.(?_22272764)_(22276219_?)del
|
|
|
NC_000011.9:g.(22272558_22276916)_(22284590_22291857)del
|
|
|
NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del
|
|
|
NC_000011.9:g.(?_108004537)_(108005053_?)dup
|
|
|
NC_000011.9:g.(?_108009615)_(108009778_?)del
|
|
|
NC_000011.9:g.(?_117253375)_(117257939_?)del
|
|
|
NC_000011.9:g.(?_22257699)_(22261240_?)dup
|
|
|
NC_000011.9:g.(?_22297630)_(22301321_?)del
|
|
|
NC_000011.9:g.(?_66281867)_(66288857_?)dup
|
|
|
NC_000011.9:g.(?_66290917)_(66294288_?)dup
|
|
|
NC_000011.9:g.(?_68682281)_(68682501_?)del
|
|
|
NC_000011.9:g.(?_88040961)_(88042398_?)del
|
|
|
NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del
|
|
|
NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del
|
|
|
NC_000012.11:g.(124189236_124191272)_(124192951_?)del
|
|
|
NC_000012.11:g.(?_103260354)_(103260461_?)dup
|
|
|
NC_000012.11:g.(?_124155659)_(124184358_124189078)del
|
|
|
NC_000012.11:g.(?_88447419)_(88448200_?)dup
|
|
|
NC_000012.11:g.(?_88465051)_(88508979_?)dup
|
|
|
NC_000013.10:g.(?_23869544)_(23869636_?)dup
|
|
|
NC_000014.8:g.(?_58896061)_(58899195_?)dup
|
|
|
NC_000014.8:g.(?_58910652)_(58917484_?)dup
|
|
|
NC_000014.8:g.(?_58949211)_(58949450_?)dup
|
|
|
NC_000014.8:g.(?_58951496)_(58953792_?)del
|
|
|
NC_000014.9:g.(?_58448320)_(58450766_?)dup
|
|
|
NC_000015.10:g.(?_42409283)_(42410015_?)del
|
|
|
NC_000015.10:g.(?_43906612)_(43906674_)?del
|
|
|
NC_000015.10:g.(?_90794157)_(90798347_?)del
|
|
|
NC_000015.10:g.(?_90803511)_(90804369_?)del
|
|
|
NC_000015.10:g.(?_90809127)_(90815289_?)del
|
|
|
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
|
|
|
NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
|
|
|
NC_000015.9:g.(?_42614560)_(42676697_?)del
|
|
|
NC_000015.9:g.(?_42695919)_(42695985_?)dup
|
|
|
NC_000015.9:g.(?_73004565)_(73009211_?)del
|
|
|
NC_000015.9:g.(?_91326042)_(91328321_?)dup
|
|
|
NC_000015.9:g.(?_91326042)_(91334084_?)dup
|
|
|
NC_000015.9:g.(?_91326042)_(91358509_?)del
|
|
|
NC_000015.9:g.(?_91341410)_(91341577_?)dup
|
|
|
NC_000015.9:g.(?_91341448)_(91344889_?)del
|
|
|
NC_000015.9:g.(?_91346741)_(91358509_?)del
|
|
|
NC_000015.9:g.(?_91346741)_(91358519_?)del
|
|
|
NC_000015.9:g.(?_91352357)_(91358509_?)del
|
|
|
NC_000016.10:g.(?_78278583)_(78432772_?)del
|
|
|
NC_000016.10:g.(?_78432468)_(78432772_?)del
|
|
|
NC_000016.10:g.21730837_21730930del
|
rs2141723087
|
|
NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del
|
|
|
NC_000016.9:g.(?_75575228)_(75579413_?)dup
|
|
|
NC_000016.9:g.(?_78148926)_(78166880_?)del
|
|
|
NC_000016.9:g.(?_78458747)_(78466669_?)dup
|
|
|
NC_000017.10:g.57075470_57235248del159779
|
|
|
NC_000018.9:g.(21131692_21134721)_(21141492_21148786)dup
|
|
|
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
|
|
|
NC_000020.10:g.(?_35532550)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35539601)_(35547942_?)dup
|
|
|
NC_000020.10:g.(?_35559143)_(35563612_?)dup
|
|
|
NC_000020.10:g.(?_35563422)_(35563602_?)dup
|
|
|
NC_000020.10:g.(?_35569432)_(35569524_?)dup
|
|
|
NC_000020.10:g.(?_62292641)_(62327221_?)del
|
|
|
NC_000020.10:g.(?_62298812)_(62298916_?)dup
|
|
|
NC_000020.10:g.(?_62309488)_(62312082_?)dup
|
|
|
NC_000020.11:g.(?_36927172)_(36927262_?)dup
|
|
|
NC_000020.11:g.(?_36930750)_(36930885_?)dup
|
|
|
NM_000019.4(ACAT1):c.1005+1G>A
|
rs2134780623
|
|
NM_000019.4(ACAT1):c.1005+2T>G
|
|
|
NM_000019.4(ACAT1):c.1016_1018dup (p.Asp339dup)
|
rs1591374552
|
|
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)
|
rs387906282
|
|
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)
|
rs1338023969
|
|
NM_000019.4(ACAT1):c.1043del (p.Ala348fs)
|
rs1565297769
|
|
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)
|
rs1367121673
|
|
NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys)
|
rs1591374629
|
|
NM_000019.4(ACAT1):c.1059T>G (p.Asn353Lys)
|
rs1591374629
|
|
NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val)
|
rs1591374632
|
|
NM_000019.4(ACAT1):c.1097dup (p.Met366fs)
|
|
|
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)
|
rs2134791667
|
|
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr)
|
rs120074140
|
|
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)
|
|
|
NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile)
|
rs377295639
|
|
NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro)
|
rs1184088336
|
|
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)
|
rs746332363
|
|
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg)
|
rs2134797745
|
|
NM_000019.4(ACAT1):c.120+1G>A
|
|
|
NM_000019.4(ACAT1):c.120+1G>T
|
rs779908220
|
|
NM_000019.4(ACAT1):c.121-2A>G
|
rs2135334384
|
|
NM_000019.4(ACAT1):c.1241_1245delinsGT (p.Asn414_Gly415delinsSer)
|
rs1591375882
|
|
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)
|
rs886042080
|
|
NM_000019.4(ACAT1):c.131T>C (p.Ile44Thr)
|
rs2135334430
|
|
NM_000019.4(ACAT1):c.134dup (p.Ser46fs)
|
rs1444451434
|
|
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)
|
rs1591361995
|
|
NM_000019.4(ACAT1):c.184_186delinsA (p.Leu62fs)
|
|
|
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)
|
rs779758622
|
|
NM_000019.4(ACAT1):c.238+2T>A
|
rs2135334862
|
|
NM_000019.4(ACAT1):c.238+2T>C
|
|
|
NM_000019.4(ACAT1):c.240_241insT (p.Ile81fs)
|
|
|
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)
|
rs866364527
|
|
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
|
rs1201662412
|
|
NM_000019.4(ACAT1):c.263A>C (p.Glu88Ala)
|
rs1565288701
|
|
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser)
|
rs120074145
|
|
NM_000019.4(ACAT1):c.334+2T>A
|
|
|
NM_000019.4(ACAT1):c.335-2A>G
|
|
|
NM_000019.4(ACAT1):c.370A>G (p.Lys124Glu)
|
rs1591363715
|
|
NM_000019.4(ACAT1):c.371A>G (p.Lys124Arg)
|
rs1037467160
|
|
NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly)
|
rs1591363786
|
|
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs)
|
rs1591363795
|
|
NM_000019.4(ACAT1):c.419T>G (p.Leu140Arg)
|
|
|
NM_000019.4(ACAT1):c.431A>C (p.His144Pro)
|
rs1025180934
|
|
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs)
|
rs2135356039
|
|
NM_000019.4(ACAT1):c.537del (p.Ile179fs)
|
rs1415293773
|
|
NM_000019.4(ACAT1):c.556G>T (p.Asp186Tyr)
|
rs1591367592
|
|
NM_000019.4(ACAT1):c.571del (p.Ile191fs)
|
rs761038005
|
|
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr)
|
rs541517496
|
|
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)
|
rs541517496
|
|
NM_000019.4(ACAT1):c.579+2T>A
|
rs112950994
|
|
NM_000019.4(ACAT1):c.580-2A>G
|
|
|
NM_000019.4(ACAT1):c.594_595del (p.Asn199fs)
|
|
|
NM_000019.4(ACAT1):c.626dup (p.Asn209fs)
|
|
|
NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn)
|
rs1591368794
|
|
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
|
|
|
NM_000019.4(ACAT1):c.64_72+10del
|
rs1318268067
|
|
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)
|
rs879255505
|
|
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His)
|
rs1437567292
|
|
NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu)
|
rs1385465985
|
|
NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter)
|
|
|
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
|
|
|
NM_000019.4(ACAT1):c.720dup (p.Thr241fs)
|
|
|
NM_000019.4(ACAT1):c.73-1G>A
|
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)
|
rs2134768525
|
|
NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del)
|
rs765961551
|
|
NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu)
|
rs983216159
|
|
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
|
|
|
NM_000019.4(ACAT1):c.814del (p.Gln272fs)
|
|
|
NM_000019.4(ACAT1):c.824del (p.Asn275fs)
|
rs1163072872
|
|
NM_000019.4(ACAT1):c.826+2T>G
|
rs2077590197
|
|
NM_000019.4(ACAT1):c.826+5G>T
|
rs1591370366
|
|
NM_000019.4(ACAT1):c.844A>C (p.Asn282His)
|
rs750195919
|
|
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys)
|
rs886041122
|
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
NM_000019.4(ACAT1):c.905del (p.Lys302fs)
|
rs398123097
|
|
NM_000019.4(ACAT1):c.940+1G>T
|
rs1591371185
|
|
NM_000019.4(ACAT1):c.940+2T>C
|
rs963023006
|
|
NM_000019.4(ACAT1):c.940+2dup
|
rs2134773243
|
|
NM_000023.4(SGCA):c.-1_9del (p.Met1fs)
|
rs1057517107
|
|
NM_000023.4(SGCA):c.100C>A (p.Arg34Ser)
|
rs758647756
|
|
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
|
|
|
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)
|
rs1598277713
|
|
NM_000023.4(SGCA):c.1052del (p.Arg351fs)
|
|
|
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)
|
rs763372958
|
|
NM_000023.4(SGCA):c.119del (p.Leu40fs)
|
|
|
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)
|
rs2144493427
|
|
NM_000023.4(SGCA):c.157+2T>G
|
|
|
NM_000023.4(SGCA):c.158-2A>G
|
rs1057516300
|
|
NM_000023.4(SGCA):c.163_164del (p.Pro55fs)
|
|
|
NM_000023.4(SGCA):c.183dup (p.Tyr62fs)
|
rs886044688
|
|
NM_000023.4(SGCA):c.186C>A (p.Tyr62Ter)
|
|
|
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)
|
rs766400853
|
|
NM_000023.4(SGCA):c.194A>C (p.His65Pro)
|
|
|
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
|
|
|
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg)
|
rs1555568318
|
|
NM_000023.4(SGCA):c.20G>A (p.Trp7Ter)
|
|
|
NM_000023.4(SGCA):c.212A>T (p.Asp71Val)
|
|
|
NM_000023.4(SGCA):c.217C>T (p.Pro73Ser)
|
|
|
NM_000023.4(SGCA):c.220del (p.Arg74fs)
|
rs1555568325
|
|
NM_000023.4(SGCA):c.221G>C (p.Arg74Pro)
|
rs779439298
|
|
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)
|
rs1555568335
|
|
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
|
|
|
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)
|
rs1567739339
|
|
NM_000023.4(SGCA):c.241C>A (p.Arg81Ser)
|
rs398123098
|
|
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)
|
rs398123098
|
|
NM_000023.4(SGCA):c.262_269dup (p.Gly91fs)
|
|
|
NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)
|
|
|
NM_000023.4(SGCA):c.271G>A (p.Gly91Ser)
|
|
|
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys)
|
rs890921874
|
|
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)
|
rs1555568383
|
|
NM_000023.4(SGCA):c.290A>G (p.Asp97Gly)
|
rs1555568396
|
|
NM_000023.4(SGCA):c.296G>A (p.Gly99Glu)
|
|
|
NM_000023.4(SGCA):c.307A>T (p.Ile103Phe)
|
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
|
NM_000023.4(SGCA):c.312+1G>A
|
rs2144494642
|
|
NM_000023.4(SGCA):c.312+1G>C
|
rs2144494642
|
|
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
|
|
|
NM_000023.4(SGCA):c.329G>T (p.Arg110Leu)
|
|
|
NM_000023.4(SGCA):c.37+1G>A
|
|
|
NM_000023.4(SGCA):c.37+1G>C
|
rs111386656
|
|
NM_000023.4(SGCA):c.37+1G>T
|
|
|
NM_000023.4(SGCA):c.37+2C>G
|
rs112500642
|
|
NM_000023.4(SGCA):c.37+3A>T
|
|
|
NM_000023.4(SGCA):c.377dup (p.Asp126fs)
|
rs1905070544
|
|
NM_000023.4(SGCA):c.386-1G>A
|
|
|
NM_000023.4(SGCA):c.391dup (p.Leu131fs)
|
rs144356125
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)
|
rs886043221
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.464del (p.Ser155fs)
|
rs1555568775
|
|
NM_000023.4(SGCA):c.472C>T (p.Leu158Phe)
|
rs2144496721
|
|
NM_000023.4(SGCA):c.480_481del (p.Leu161fs)
|
rs1057517142
|
|
NM_000023.4(SGCA):c.488_489delinsT (p.Gly163fs)
|
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter)
|
rs1057516242
|
|
NM_000023.4(SGCA):c.558_559del (p.Leu187fs)
|
|
|
NM_000023.4(SGCA):c.559del (p.Leu187fs)
|
rs1057516888
|
|
NM_000023.4(SGCA):c.582dup (p.Gly195fs)
|
|
|
NM_000023.4(SGCA):c.584+1G>A
|
rs2144497138
|
|
NM_000023.4(SGCA):c.584+1del
|
rs1555568876
|
|
NM_000023.4(SGCA):c.584+5G>A
|
|
|
NM_000023.4(SGCA):c.585-2A>T
|
rs1555568965
|
|
NM_000023.4(SGCA):c.586G>A (p.Val196Ile)
|
rs752695991
|
|
NM_000023.4(SGCA):c.596del (p.Lys199fs)
|
|
|
NM_000023.4(SGCA):c.601G>A (p.Gly201Ser)
|
rs2144498121
|
|
NM_000023.4(SGCA):c.602G>A (p.Gly201Asp)
|
rs2144498132
|
|
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)
|
rs757481230
|
|
NM_000023.4(SGCA):c.61_62insG (p.Thr21fs)
|
rs2144493097
|
|
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)
|
rs750844090
|
|
NM_000023.4(SGCA):c.699C>G (p.Tyr233Ter)
|
|
|
NM_000023.4(SGCA):c.701del (p.Asp234fs)
|
|
|
NM_000023.4(SGCA):c.71del (p.Gln24fs)
|
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000023.4(SGCA):c.725T>C (p.Val242Ala)
|
|
|
NM_000023.4(SGCA):c.747+1G>A
|
rs886043392
|
|
NM_000023.4(SGCA):c.747G>T (p.Leu249=)
|
rs2144498569
|
|
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)
|
rs1057517377
|
|
NM_000023.4(SGCA):c.755del (p.Lys252fs)
|
rs1057516548
|
|
NM_000023.4(SGCA):c.762del (p.Pro255fs)
|
|
|
NM_000023.4(SGCA):c.794del (p.Gly265fs)
|
|
|
NM_000023.4(SGCA):c.801dup (p.Ile268fs)
|
rs1905256830
|
|
NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs)
|
rs1057516729
|
|
NM_000023.4(SGCA):c.84_90del (p.His29fs)
|
|
|
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)
|
rs137852623
|
|
NM_000023.4(SGCA):c.85dup (p.His29fs)
|
|
|
NM_000023.4(SGCA):c.86A>T (p.His29Leu)
|
rs1387802849
|
|
NM_000023.4(SGCA):c.88C>T (p.Pro30Ser)
|
rs1327595249
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000023.4(SGCA):c.949G>T (p.Glu317Ter)
|
rs1555569339
|
|
NM_000023.4(SGCA):c.956+1G>A
|
|
|
NM_000023.4(SGCA):c.956+2_956+19del
|
rs1555569342
|
|
NM_000023.4(SGCA):c.957-1G>T
|
rs2144502043
|
|
NM_000023.4(SGCA):c.960_961insTC (p.Lys321fs)
|
|
|
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)
|
rs796065318
|
|
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)
|
rs1057517359
|
|
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)
|
rs1057517030
|
|
NM_000057.4(BLM):c.1087+1G>A
|
rs1179486581
|
|
NM_000057.4(BLM):c.1087+1G>T
|
|
|
NM_000057.4(BLM):c.1087+2T>C
|
|
|
NM_000057.4(BLM):c.1088-1G>A
|
rs1555419696
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1114del (p.Ile373fs)
|
rs1555419704
|
|
NM_000057.4(BLM):c.1151del (p.Asp384fs)
|
rs1555419724
|
|
NM_000057.4(BLM):c.1210del (p.Arg404fs)
|
rs1555419742
|
|
NM_000057.4(BLM):c.1220+1G>A
|
rs1555419748
|
|
NM_000057.4(BLM):c.1220+1G>T
|
|
|
NM_000057.4(BLM):c.1220+2T>C
|
|
|
NM_000057.4(BLM):c.1220+2T>G
|
|
|
NM_000057.4(BLM):c.1221-2A>C
|
rs1555419779
|
|
NM_000057.4(BLM):c.1316del (p.Met439fs)
|
rs1555419829
|
|
NM_000057.4(BLM):c.1399dup (p.Asp467fs)
|
rs1555419862
|
|
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)
|
rs1555419873
|
|
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
|
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
NM_000057.4(BLM):c.1487del (p.Leu496fs)
|
rs2151158316
|
|
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)
|
rs2151158332
|
|
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)
|
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1549dup (p.Ser517fs)
|
rs1555419902
|
|
NM_000057.4(BLM):c.1622del (p.Asn541fs)
|
|
|
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)
|
rs1356090839
|
|
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs)
|
rs1057516361
|
|
NM_000057.4(BLM):c.1722_1725delinsGGC (p.Ala576fs)
|
rs1057517266
|
|
NM_000057.4(BLM):c.1740del (p.Thr581fs)
|
rs1057517432
|
|
NM_000057.4(BLM):c.1752del (p.Gln585fs)
|
rs1555419961
|
|
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)
|
rs1057516956
|
|
NM_000057.4(BLM):c.1795del (p.Arg599fs)
|
rs1057517431
|
|
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs)
|
rs1555419980
|
|
NM_000057.4(BLM):c.1882+1G>C
|
rs757841012
|
|
NM_000057.4(BLM):c.1882+2T>C
|
|
|
NM_000057.4(BLM):c.1883-1G>A
|
rs772230310
|
|
NM_000057.4(BLM):c.1883-2A>G
|
rs1555420142
|
|
NM_000057.4(BLM):c.1953_1956del (p.His651fs)
|
|
|
NM_000057.4(BLM):c.1A>C (p.Met1Leu)
|
rs1215497457
|
|
NM_000057.4(BLM):c.2023dup (p.Ala675fs)
|
|
|
NM_000057.4(BLM):c.2074+1G>T
|
rs367543036
|
|
NM_000057.4(BLM):c.2086_2087del (p.Ser696fs)
|
|
|
NM_000057.4(BLM):c.213_214del (p.Ser72fs)
|
rs960430492
|
|
NM_000057.4(BLM):c.2145del (p.Pro715_Leu716insTer)
|
|
|
NM_000057.4(BLM):c.2181_2188del (p.Thr728fs)
|
|
|
NM_000057.4(BLM):c.2187del (p.Leu730fs)
|
|
|
NM_000057.4(BLM):c.2193+1G>A
|
rs865866188
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
NM_000057.4(BLM):c.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer)
|
|
|
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)
|
rs1555420602
|
|
NM_000057.4(BLM):c.2307+1G>A
|
|
|
NM_000057.4(BLM):c.2307+2T>G
|
rs2151164052
|
|
NM_000057.4(BLM):c.2308-2A>G
|
rs1248548542
|
|
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)
|
rs1555420842
|
|
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)
|
rs1555420844
|
|
NM_000057.4(BLM):c.2349_2350dup (p.Tyr784fs)
|
rs1555420844
|
|
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)
|
rs1567045235
|
|
NM_000057.4(BLM):c.2406+2T>G
|
rs367543016
|
|
NM_000057.4(BLM):c.2407-1G>A
|
rs1555420871
|
|
NM_000057.4(BLM):c.2407-2A>G
|
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)
|
rs1412341951
|
|
NM_000057.4(BLM):c.2495_2496del (p.Thr832fs)
|
|
|
NM_000057.4(BLM):c.2516del (p.Lys839fs)
|
|
|
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr)
|
rs767086502
|
|
NM_000057.4(BLM):c.2548_2555+12del
|
|
|
NM_000057.4(BLM):c.2555+1G>A
|
|
|
NM_000057.4(BLM):c.2555+1G>T
|
rs1555420917
|
|
NM_000057.4(BLM):c.2556-1G>T
|
rs1896650174
|
|
NM_000057.4(BLM):c.2556-2A>G
|
rs1596250255
|
|
NM_000057.4(BLM):c.2576_2577del (p.Arg859fs)
|
rs1567052178
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)
|
rs1060503989
|
|
NM_000057.4(BLM):c.2603del (p.Pro868fs)
|
|
|
NM_000057.4(BLM):c.2642G>A (p.Trp881Ter)
|
|
|
NM_000057.4(BLM):c.2654_2660delinsTG (p.His885fs)
|
|
|
NM_000057.4(BLM):c.2662+2T>C
|
rs1567052324
|
|
NM_000057.4(BLM):c.2662+2T>G
|
rs1567052324
|
|
NM_000057.4(BLM):c.2663-2A>G
|
rs1567053170
|
|
NM_000057.4(BLM):c.2677dup (p.Ile893fs)
|
|
|
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)
|
rs758311406
|
|
NM_000057.4(BLM):c.2720_2726del (p.Thr907fs)
|
rs1057516452
|
|
NM_000057.4(BLM):c.2756del (p.His919fs)
|
|
|
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)
|
rs1896712163
|
|
NM_000057.4(BLM):c.2807del (p.Asn936fs)
|
rs1245531016
|
|
NM_000057.4(BLM):c.2821C>T (p.Gln941Ter)
|
rs1057516700
|
|
NM_000057.4(BLM):c.2823_2823+3del
|
|
|
NM_000057.4(BLM):c.2824-1G>C
|
rs1555423062
|
|
NM_000057.4(BLM):c.2824-2A>C
|
rs745538883
|
|
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)
|
rs1309932713
|
|
NM_000057.4(BLM):c.2855G>C (p.Gly952Ala)
|
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
NM_000057.4(BLM):c.2T>C (p.Met1Thr)
|
rs1057516593
|
|
NM_000057.4(BLM):c.3014_3015insTATCA (p.Met1006fs)
|
rs797045115
|
|
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)
|
rs1555423119
|
|
NM_000057.4(BLM):c.3022del (p.Glu1008fs)
|
rs1057516719
|
|
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)
|
rs367543029
|
|
NM_000057.4(BLM):c.3210+1G>A
|
|
|
NM_000057.4(BLM):c.3211-2A>G
|
|
|
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)
|
rs1555423753
|
|
NM_000057.4(BLM):c.3265del (p.Gln1089fs)
|
|
|
NM_000057.4(BLM):c.3305_3306del (p.His1102fs)
|
rs1057516253
|
|
NM_000057.4(BLM):c.3358+1G>A
|
|
|
NM_000057.4(BLM):c.3358+1G>T
|
|
|
NM_000057.4(BLM):c.3359-1G>A
|
|
|
NM_000057.4(BLM):c.3359-2A>G
|
|
|
NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter)
|
rs1057516774
|
|
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)
|
|
|
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
|
|
|
NM_000057.4(BLM):c.3438_3439del (p.Phe1146fs)
|
rs2151194257
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
|
NM_000057.4(BLM):c.3499del (p.Ala1167fs)
|
rs1555424305
|
|
NM_000057.4(BLM):c.3508del (p.Tyr1170fs)
|
rs1555424311
|
|
NM_000057.4(BLM):c.3554_3559-116del
|
|
|
NM_000057.4(BLM):c.3559-1G>A
|
rs1555424368
|
|
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs)
|
rs1555424372
|
|
NM_000057.4(BLM):c.357_358del (p.Cys120fs)
|
rs748186908
|
|
NM_000057.4(BLM):c.3589del (p.Ser1197fs)
|
rs1555424376
|
|
NM_000057.4(BLM):c.3638del (p.Glu1213fs)
|
rs1057516547
|
|
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)
|
rs1897236255
|
|
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs)
|
rs1234064430
|
|
NM_000057.4(BLM):c.3751+1G>A
|
rs1897239335
|
|
NM_000057.4(BLM):c.3751+2T>C
|
rs1897239414
|
|
NM_000057.4(BLM):c.3753del (p.Glu1251fs)
|
rs1275708646
|
|
NM_000057.4(BLM):c.3845del (p.Leu1282fs)
|
rs1897350204
|
|
NM_000057.4(BLM):c.3845dup (p.Leu1282fs)
|
rs1897350204
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter)
|
rs1057516728
|
|
NM_000057.4(BLM):c.3866dup (p.Ser1290fs)
|
|
|
NM_000057.4(BLM):c.3874+1G>A
|
|
|
NM_000057.4(BLM):c.3874+2T>C
|
rs1555424890
|
|
NM_000057.4(BLM):c.3875-1G>A
|
rs2151199690
|
|
NM_000057.4(BLM):c.3875-2A>T
|
rs150421256
|
|
NM_000057.4(BLM):c.3890del (p.Pro1297fs)
|
rs1555425062
|
|
NM_000057.4(BLM):c.3891del (p.Gly1298_Ile1299insTer)
|
|
|
NM_000057.4(BLM):c.3901del (p.Leu1301fs)
|
rs1555425063
|
|
NM_000057.4(BLM):c.3917del (p.Gly1306fs)
|
rs764086459
|
|
NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter)
|
rs1555425074
|
|
NM_000057.4(BLM):c.3956del (p.Ile1319fs)
|
rs1555425080
|
|
NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)
|
|
|
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs)
|
rs1057516261
|
|
NM_000057.4(BLM):c.4013dup (p.Met1339fs)
|
|
|
NM_000057.4(BLM):c.418G>T (p.Glu140Ter)
|
|
|
NM_000057.4(BLM):c.443dup (p.Leu148fs)
|
rs1057516297
|
|
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)
|
rs1555418352
|
|
NM_000057.4(BLM):c.516del (p.Gln174fs)
|
|
|
NM_000057.4(BLM):c.543del (p.Ser181fs)
|
rs1555418380
|
|
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)
|
rs367543026
|
|
NM_000057.4(BLM):c.608_609del (p.Thr203fs)
|
rs1170049553
|
|
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
|
|
|
NM_000057.4(BLM):c.662_665del (p.Thr221fs)
|
rs1057517229
|
|
NM_000057.4(BLM):c.709del (p.Cys237fs)
|
rs1217879599
|
|
NM_000057.4(BLM):c.746del (p.Asn249fs)
|
|
|
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
|
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_000057.4(BLM):c.799+1G>A
|
|
|
NM_000057.4(BLM):c.799+1G>T
|
rs1895641581
|
|
NM_000057.4(BLM):c.800-2A>G
|
rs1895690125
|
|
NM_000057.4(BLM):c.804_805del (p.Asn268fs)
|
|
|
NM_000057.4(BLM):c.855del (p.Val286fs)
|
rs2151149598
|
|
NM_000057.4(BLM):c.8_9dup (p.Val4fs)
|
|
|
NM_000057.4(BLM):c.942del (p.Ser315fs)
|
rs1555418701
|
|
NM_000057.4(BLM):c.959+1_959+9del
|
rs765061205
|
|
NM_000057.4(BLM):c.959_959+16del
|
|
|
NM_000057.4(BLM):c.960-1G>A
|
rs1596223715
|
|
NM_000057.4(BLM):c.960-1G>T
|
rs1596223715
|
|
NM_000057.4(BLM):c.960-2A>C
|
rs1286600850
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_000057.4(BLM):c.98+2dup
|
rs1555418016
|
|
NM_000057.4(BLM):c.98_98+1del
|
|
|
NM_000057.4(BLM):c.99-1G>C
|
rs897262346
|
|
NM_000057.4(BLM):c.99-1G>T
|
|
|
NM_000057.4(BLM):c.99-8_112del
|
rs2151146678
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|
NM_000067.3(CA2):c.275A>C (p.Gln92Pro)
|
rs1304160279
|
|
NM_000067.3(CA2):c.579C>G (p.Tyr193Ter)
|
rs1203921376
|
|
NM_000067.3(CA2):c.681del (p.Lys227fs)
|
rs779869368
|
|
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)
|
rs863224965
|
|
NM_000070.2(CAPN3):c.[223dupT];[439C>T]
|
|
|
NM_000070.3(CAPN3):c.1030-1G>A
|
rs1555421263
|
|
NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly)
|
rs1555421271
|
|
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)
|
rs794727895
|
|
NM_000070.3(CAPN3):c.1115+1G>A
|
rs1555421293
|
|
NM_000070.3(CAPN3):c.1115+2T>A
|
rs1057524468
|
|
NM_000070.3(CAPN3):c.1115+2T>C
|
rs1057524468
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000070.3(CAPN3):c.1128G>A (p.Trp376Ter)
|
|
|
NM_000070.3(CAPN3):c.1193+1G>A
|
|
|
NM_000070.3(CAPN3):c.1194-2del
|
rs2141193533
|
|
NM_000070.3(CAPN3):c.1198del (p.Ser400fs)
|
rs1555421842
|
|
NM_000070.3(CAPN3):c.1202A>T (p.Tyr401Phe)
|
rs371784007
|
|
NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter)
|
rs1555421847
|
|
NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs)
|
rs1555421854
|
|
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)
|
rs1293496023
|
|
NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)
|
|
|
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)
|
rs773827877
|
|
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)
|
rs776043976
|
|
NM_000070.3(CAPN3):c.134C>T (p.Ala45Val)
|
|
|
NM_000070.3(CAPN3):c.1354+1G>A
|
|
|
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del)
|
rs746075428
|
|
NM_000070.3(CAPN3):c.1439T>A (p.Phe480Tyr)
|
rs1555422111
|
|
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)
|
rs863224958
|
|
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)
|
rs886043432
|
|
NM_000070.3(CAPN3):c.1525-1G>T
|
rs2053889963
|
|
NM_000070.3(CAPN3):c.1525-2A>G
|
|
|
NM_000070.3(CAPN3):c.1525G>T (p.Val509Phe)
|
rs1409503203
|
|
NM_000070.3(CAPN3):c.1536+3A>G
|
|
|
NM_000070.3(CAPN3):c.1558_1559del (p.Leu520fs)
|
|
|
NM_000070.3(CAPN3):c.1642del (p.Arg548fs)
|
rs1555422293
|
|
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)
|
rs767739787
|
|
NM_000070.3(CAPN3):c.1690_1693dup (p.Gln565fs)
|
rs1555422298
|
|
NM_000070.3(CAPN3):c.1711del (p.Leu571fs)
|
rs1334369407
|
|
NM_000070.3(CAPN3):c.1742C>G (p.Ser581Cys)
|
|
|
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)
|
rs886042573
|
|
NM_000070.3(CAPN3):c.1782+2T>C
|
rs754930571
|
|
NM_000070.3(CAPN3):c.1783-5_1784del
|
|
|
NM_000070.3(CAPN3):c.1813G>C (p.Val605Leu)
|
rs200759807
|
|
NM_000070.3(CAPN3):c.1858G>T (p.Glu620Ter)
|
rs1555422839
|
|
NM_000070.3(CAPN3):c.1882del (p.Thr628fs)
|
rs1555422847
|
|
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)
|
rs1595844413
|
|
NM_000070.3(CAPN3):c.1910dup (p.Gln638fs)
|
|
|
NM_000070.3(CAPN3):c.1914+2T>C
|
rs1555422856
|
|
NM_000070.3(CAPN3):c.1944_1945del (p.Ser648fs)
|
rs1555422954
|
|
NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter)
|
rs777636094
|
|
NM_000070.3(CAPN3):c.1963del (p.Arg655fs)
|
rs1566984441
|
|
NM_000070.3(CAPN3):c.2007T>A (p.Cys669Ter)
|
rs1555423015
|
|
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs)
|
rs1555423021
|
|
NM_000070.3(CAPN3):c.2042_2043del (p.Val681fs)
|
|
|
NM_000070.3(CAPN3):c.2050+1del
|
rs1555423027
|
|
NM_000070.3(CAPN3):c.2051-1G>C
|
rs886042108
|
|
NM_000070.3(CAPN3):c.2083G>T (p.Glu695Ter)
|
rs2054157050
|
|
NM_000070.3(CAPN3):c.2112_2115+2del
|
|
|
NM_000070.3(CAPN3):c.2115+1_2115+2dup
|
rs760919949
|
|
NM_000070.3(CAPN3):c.2116-1G>C
|
|
|
NM_000070.3(CAPN3):c.212del (p.Lys71fs)
|
rs1555417321
|
|
NM_000070.3(CAPN3):c.2134_*219del (p.Leu712_Ter822del)
|
|
|
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)
|
rs770894443
|
|
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)
|
rs774048414
|
|
NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter)
|
rs2054179951
|
|
NM_000070.3(CAPN3):c.2184+2T>C
|
rs1555423146
|
|
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs)
|
rs587780289
|
|
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter)
|
rs1595847257
|
|
NM_000070.3(CAPN3):c.2236G>T (p.Glu746Ter)
|
|
|
NM_000070.3(CAPN3):c.2256_2257del (p.Asn752fs)
|
|
|
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)
|
rs775130589
|
|
NM_000070.3(CAPN3):c.2281C>T (p.Gln761Ter)
|
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.2309A>G (p.Tyr770Cys)
|
rs2141225644
|
|
NM_000070.3(CAPN3):c.2312C>T (p.Ala771Val)
|
rs752397587
|
|
NM_000070.3(CAPN3):c.2333_2336dup (p.Phe779fs)
|
|
|
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter)
|
rs1447774727
|
|
NM_000070.3(CAPN3):c.2380+1G>T
|
rs1555423222
|
|
NM_000070.3(CAPN3):c.2380+2T>G
|
rs761935462
|
|
NM_000070.3(CAPN3):c.2380A>T (p.Arg794Ter)
|
rs2054206966
|
|
NM_000070.3(CAPN3):c.2381-2A>G
|
rs863224962
|
|
NM_000070.3(CAPN3):c.2439+1G>T
|
|
|
NM_000070.3(CAPN3):c.2440-1G>C
|
rs886044052
|
|
NM_000070.3(CAPN3):c.290dup (p.Val98fs)
|
rs1595794433
|
|
NM_000070.3(CAPN3):c.2T>C (p.Met1Thr)
|
rs1555417257
|
|
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)
|
rs797045427
|
|
NM_000070.3(CAPN3):c.343G>T (p.Gly115Ter)
|
rs2053335168
|
|
NM_000070.3(CAPN3):c.352A>G (p.Arg118Gly)
|
rs1566973583
|
|
NM_000070.3(CAPN3):c.369del (p.Gly124fs)
|
rs1555420083
|
|
NM_000070.3(CAPN3):c.379+1G>A
|
|
|
NM_000070.3(CAPN3):c.379+3A>T
|
rs1164215001
|
|
NM_000070.3(CAPN3):c.379G>A (p.Gly127Arg)
|
|
|
NM_000070.3(CAPN3):c.380-8_395del
|
rs1555420302
|
|
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)
|
rs946415346
|
|
NM_000070.3(CAPN3):c.402del (p.Ile135fs)
|
rs746935735
|
|
NM_000070.3(CAPN3):c.413T>C (p.Leu138Pro)
|
|
|
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)
|
rs1555420462
|
|
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)
|
rs1555420468
|
|
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)
|
rs2053442769
|
|
NM_000070.3(CAPN3):c.543C>A (p.Cys181Ter)
|
|
|
NM_000070.3(CAPN3):c.545T>A (p.Leu182Gln)
|
rs2141164715
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000070.3(CAPN3):c.555C>G (p.Tyr185Ter)
|
|
|
NM_000070.3(CAPN3):c.580del (p.Ser194fs)
|
rs398123149
|
|
NM_000070.3(CAPN3):c.59del (p.Pro20fs)
|
rs1555417271
|
|
NM_000070.3(CAPN3):c.632+1del
|
rs1566975163
|
|
NM_000070.3(CAPN3):c.633-1G>A
|
|
|
NM_000070.3(CAPN3):c.641G>A (p.Gly214Asp)
|
rs761430243
|
|
NM_000070.3(CAPN3):c.643T>C (p.Ser215Pro)
|
rs2053478068
|
|
NM_000070.3(CAPN3):c.661G>A (p.Gly221Ser)
|
rs1432632972
|
|
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)
|
rs1555420634
|
|
NM_000070.3(CAPN3):c.717del (p.Phe239fs)
|
rs776059672
|
|
NM_000070.3(CAPN3):c.728_762dup (p.Ala255delinsMetLeuLeuValThrCysThrArgSerTer)
|
|
|
NM_000070.3(CAPN3):c.741_751del (p.Met248fs)
|
rs1555420647
|
|
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)
|
rs757448865
|
|
NM_000070.3(CAPN3):c.754A>G (p.Met252Val)
|
rs2053483911
|
|
NM_000070.3(CAPN3):c.760A>T (p.Lys254Ter)
|
|
|
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)
|
rs2053484604
|
|
NM_000070.3(CAPN3):c.779C>T (p.Ser260Phe)
|
|
|
NM_000070.3(CAPN3):c.802-1G>A
|
|
|
NM_000070.3(CAPN3):c.802-2A>G
|
rs2141170197
|
|
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)
|
rs1555420765
|
|
NM_000070.3(CAPN3):c.945+1G>A
|
|
|
NM_000070.3(CAPN3):c.945+1G>T
|
rs1375420170
|
|
NM_000070.3(CAPN3):c.946-1_948del
|
rs766156798
|
|
NM_000070.3(CAPN3):c.956C>G (p.Pro319Arg)
|
|
|
NM_000070.3(CAPN3):c.973A>T (p.Arg325Ter)
|
rs2053589887
|
|
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg)
|
rs1085307995
|
|
NM_000070.3:g.(42408325_42409302)_(42412214_?)del
|
|
|
NM_000082.4(ERCC8):c.1042-1G>C
|
rs897535441
|
|
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter)
|
rs1749618632
|
|
NM_000082.4(ERCC8):c.274dup (p.Arg92fs)
|
|
|
NM_000082.4(ERCC8):c.276-2A>G
|
rs1554074597
|
|
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)
|
rs1131691783
|
|
NM_000082.4(ERCC8):c.300C>A (p.Tyr100Ter)
|
rs143367518
|
|
NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter)
|
rs1749495521
|
|
NM_000082.4(ERCC8):c.454_460dup (p.Thr154fs)
|
|
|
NM_000082.4(ERCC8):c.482-2A>G
|
rs1554073420
|
|
NM_000082.4(ERCC8):c.523T>C (p.Ser175Pro)
|
|
|
NM_000082.4(ERCC8):c.559C>T (p.Gln187Ter)
|
|
|
NM_000082.4(ERCC8):c.572_574del (p.Ala191del)
|
|
|
NM_000082.4(ERCC8):c.592del (p.Tyr198fs)
|
|
|
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del)
|
rs2112491212
|
|
NM_000082.4(ERCC8):c.642G>A (p.Trp214Ter)
|
rs1748819276
|
|
NM_000082.4(ERCC8):c.647_651dup (p.Arg218Ter)
|
rs1554073177
|
|
NM_000082.4(ERCC8):c.679del (p.Asp227fs)
|
rs1554073175
|
|
NM_000082.4(ERCC8):c.719-2A>G
|
rs1554073117
|
|
NM_000082.4(ERCC8):c.719-2A>T
|
rs1554073117
|
|
NM_000082.4(ERCC8):c.77+2T>G
|
rs1554076239
|
|
NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala)
|
rs281875225
|
|
NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter)
|
rs1748531932
|
|
NM_000082.4(ERCC8):c.928del (p.Val310fs)
|
rs1554072713
|
|
NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter)
|
rs1749828987
|
|
NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter)
|
rs1748527879
|
|
NM_000083.3(CLCN1):c.1044_1056del (p.Ala350fs)
|
|
|
NM_000083.3(CLCN1):c.1064+1G>A
|
|
|
NM_000083.3(CLCN1):c.1099del (p.Tyr367fs)
|
|
|
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)
|
rs756199349
|
|
NM_000083.3(CLCN1):c.1252-1G>T
|
|
|
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)
|
rs780834658
|
|
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg)
|
rs1027814542
|
|
NM_000083.3(CLCN1):c.1298G>C (p.Trp433Ser)
|
rs1486868849
|
|
NM_000083.3(CLCN1):c.1298G>T (p.Trp433Leu)
|
|
|
NM_000083.3(CLCN1):c.1454T>A (p.Met485Lys)
|
|
|
NM_000083.3(CLCN1):c.1471+2del
|
rs2116864878
|
|
NM_000083.3(CLCN1):c.1484G>A (p.Gly495Glu)
|
|
|
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys)
|
rs1563083476
|
|
NM_000083.3(CLCN1):c.1582+1G>A
|
|
|
NM_000083.3(CLCN1):c.1606G>C (p.Val536Leu)
|
|
|
NM_000083.3(CLCN1):c.1607T>C (p.Val536Ala)
|
|
|
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg)
|
rs762754992
|
|
NM_000083.3(CLCN1):c.1666A>T (p.Ile556Phe)
|
|
|
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser)
|
rs1586510615
|
|
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)
|
rs1269268607
|
|
NM_000083.3(CLCN1):c.1699A>C (p.Asn567His)
|
|
|
NM_000083.3(CLCN1):c.1796+1G>A
|
|
|
NM_000083.3(CLCN1):c.181-2A>G
|
rs1802376231
|
|
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
|
|
|
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly)
|
rs1803111906
|
|
NM_000083.3(CLCN1):c.1931-1G>C
|
rs2116383424
|
|
NM_000083.3(CLCN1):c.1984C>T (p.Gln662Ter)
|
|
|
NM_000083.3(CLCN1):c.1997_1998del (p.Cys666fs)
|
|
|
NM_000083.3(CLCN1):c.2001dup (p.Glu668Ter)
|
|
|
NM_000083.3(CLCN1):c.2062G>T (p.Gly688Trp)
|
rs1563087092
|
|
NM_000083.3(CLCN1):c.2171A>C (p.Glu724Ala)
|
rs1803225186
|
|
NM_000083.3(CLCN1):c.2284+1G>A
|
|
|
NM_000083.3(CLCN1):c.2365-1G>A
|
|
|
NM_000083.3(CLCN1):c.2403+1G>A
|
|
|
NM_000083.3(CLCN1):c.2508+1G>A
|
|
|
NM_000083.3(CLCN1):c.2509-2A>C
|
|
|
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro)
|
rs1563090141
|
|
NM_000083.3(CLCN1):c.350A>G (p.Asp117Gly)
|
|
|
NM_000083.3(CLCN1):c.382A>G (p.Met128Val)
|
rs80356699
|
|
NM_000083.3(CLCN1):c.433+1G>A
|
|
|
NM_000083.3(CLCN1):c.434-1G>A
|
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000083.3(CLCN1):c.480G>C (p.Gln160His)
|
rs771532474
|
|
NM_000083.3(CLCN1):c.490T>C (p.Trp164Arg)
|
|
|
NM_000083.3(CLCN1):c.562+1G>C
|
rs2116837885
|
|
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
|
rs797045032
|
|
NM_000083.3(CLCN1):c.569G>T (p.Gly190Val)
|
rs746401512
|
|
NM_000083.3(CLCN1):c.571A>T (p.Ile191Phe)
|
rs2116838394
|
|
NM_000083.3(CLCN1):c.578A>C (p.Glu193Ala)
|
|
|
NM_000083.3(CLCN1):c.603dup (p.Val202fs)
|
|
|
NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg)
|
rs2116838620
|
|
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu)
|
rs1586486170
|
|
NM_000083.3(CLCN1):c.693A>C (p.Lys231Asn)
|
|
|
NM_000083.3(CLCN1):c.697-1G>C
|
rs773025750
|
|
NM_000083.3(CLCN1):c.706G>A (p.Val236Ile)
|
|
|
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu)
|
rs776173406
|
|
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg)
|
rs746691295
|
|
NM_000083.3(CLCN1):c.774+3A>C
|
|
|
NM_000083.3(CLCN1):c.809G>T (p.Gly270Val)
|
|
|
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg)
|
rs1554435334
|
|
NM_000083.3(CLCN1):c.829T>G (p.Cys277Gly)
|
rs757109632
|
|
NM_000083.3(CLCN1):c.847C>T (p.Leu283Phe)
|
rs80356688
|
|
NM_000083.3(CLCN1):c.853G>A (p.Gly285Arg)
|
|
|
NM_000083.3(CLCN1):c.859C>A (p.Leu287Ile)
|
|
|
NM_000083.3(CLCN1):c.871G>T (p.Glu291Ter)
|
|
|
NM_000083.3(CLCN1):c.891del (p.Phe297fs)
|
|
|
NM_000083.3(CLCN1):c.893C>T (p.Ala298Val)
|
|
|
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys)
|
rs1563078716
|
|
NM_000083.3(CLCN1):c.913G>A (p.Gly305Arg)
|
rs1802702027
|
|
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del)
|
rs766116662
|
|
NM_000083.3(CLCN1):c.950G>C (p.Arg317Pro)
|
rs80356702
|
|
NM_000083.3(CLCN1):c.980-2A>G
|
|
|
NM_000083.3(CLCN1):c.980-3C>G
|
rs1802714707
|
|
NM_000083.3(CLCN1):c.991G>A (p.Ala331Thr)
|
|
|
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)
|
|
|
NM_000088.4(COL1A1):c.1877G>A (p.Gly626Asp)
|
rs2144563979
|
|
NM_000091.4:c.1900G>A;c.1927G>A
|
|
|
NM_000091.5(COL4A3):c.1015_1016insTGAAA (p.Gly339fs)
|
|
|
NM_000091.5(COL4A3):c.1042_1043delinsT (p.Asp348fs)
|
|
|
NM_000091.5(COL4A3):c.1066G>T (p.Glu356Ter)
|
|
|
NM_000091.5(COL4A3):c.1114+1G>A
|
rs1286895614
|
|
NM_000091.5(COL4A3):c.1143_1150+1del
|
rs1274459294
|
|
NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg)
|
|
|
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu)
|
rs1114167371
|
|
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg)
|
rs1574727988
|
|
NM_000091.5(COL4A3):c.1188G>A (p.Trp396Ter)
|
rs1348174898
|
|
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter)
|
rs2070736908
|
|
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)
|
rs1559878862
|
|
NM_000091.5(COL4A3):c.1262del (p.Gly421fs)
|
rs2125972772
|
|
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg)
|
rs1574728278
|
|
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)
|
rs1553755124
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
NM_000091.5(COL4A3):c.1361del (p.Pro454fs)
|
|
|
NM_000091.5(COL4A3):c.1370_1378del (p.Leu457_Ser459del)
|
rs1553755767
|
|
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu)
|
rs2125981235
|
|
NM_000091.5(COL4A3):c.1407del (p.Gly470fs)
|
rs766025194
|
|
NM_000091.5(COL4A3):c.1408G>T (p.Gly470Ter)
|
rs2070901479
|
|
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)
|
rs2125982395
|
|
NM_000091.5(COL4A3):c.1507A>T (p.Arg503Ter)
|
|
|
NM_000091.5(COL4A3):c.151A>T (p.Lys51Ter)
|
rs2068937789
|
|
NM_000091.5(COL4A3):c.1531G>T (p.Gly511Ter)
|
rs921768118
|
|
NM_000091.5(COL4A3):c.1572dup (p.Pro525fs)
|
|
|
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser)
|
rs779575469
|
|
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter)
|
rs2071189852
|
|
NM_000091.5(COL4A3):c.1645C>T (p.Gln549Ter)
|
|
|
NM_000091.5(COL4A3):c.1662_1663del (p.Asp555fs)
|
|
|
NM_000091.5(COL4A3):c.1682_1685del (p.Gln561fs)
|
|
|
NM_000091.5(COL4A3):c.1729A>T (p.Lys577Ter)
|
|
|
NM_000091.5(COL4A3):c.1747A>T (p.Lys583Ter)
|
rs920504687
|
|
NM_000091.5(COL4A3):c.1758+1G>A
|
rs1553757096
|
|
NM_000091.5(COL4A3):c.1767_1773del (p.Ser589fs)
|
|
|
NM_000091.5(COL4A3):c.1806_1814del (p.603SPG[1])
|
rs1444785718
|
|
NM_000091.5(COL4A3):c.1855G>T (p.Gly619Ter)
|
rs773515249
|
|
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)
|
rs2125996486
|
|
NM_000091.5(COL4A3):c.1879del (p.Gln627fs)
|
|
|
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp)
|
rs1574767962
|
|
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu)
|
rs2106132144
|
|
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg)
|
rs1553758919
|
|
NM_000091.5(COL4A3):c.2076_2077del (p.Glu693fs)
|
|
|
NM_000091.5(COL4A3):c.2126-1G>C
|
rs2071831565
|
|
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala)
|
rs267599232
|
|
NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter)
|
|
|
NM_000091.5(COL4A3):c.2192T>A (p.Leu731Ter)
|
|
|
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg)
|
rs375040636
|
|
NM_000091.5(COL4A3):c.2223+1G>A
|
rs1553759476
|
|
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])
|
rs1306992119
|
|
NM_000091.5(COL4A3):c.2328_2336del (p.772LPG[2])
|
rs1553759665
|
|
NM_000091.5(COL4A3):c.234+1G>A
|
rs1240838887
|
|
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)
|
rs1440033157
|
|
NM_000091.5(COL4A3):c.2444dup (p.Ala816fs)
|
|
|
NM_000091.5(COL4A3):c.2456_2457insACTGTCTCTTA (p.Pro820fs)
|
|
|
NM_000091.5(COL4A3):c.2480G>A (p.Gly827Glu)
|
|
|
NM_000091.5(COL4A3):c.2489-1G>A
|
rs1574782406
|
|
NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala)
|
|
|
NM_000091.5(COL4A3):c.2590C>T (p.Gln864Ter)
|
rs2072046147
|
|
NM_000091.5(COL4A3):c.2591_2592insT (p.Gln864fs)
|
|
|
NM_000091.5(COL4A3):c.2602G>T (p.Gly868Ter)
|
|
|
NM_000091.5(COL4A3):c.2617A>T (p.Arg873Ter)
|
rs2072047738
|
|
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)
|
rs759043857
|
|
NM_000091.5(COL4A3):c.2673_2676delinsATTTTCGA (p.Gly892fs)
|
|
|
NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg)
|
|
|
NM_000091.5(COL4A3):c.279+1G>A
|
rs202001097
|
|
NM_000091.5(COL4A3):c.280G>T (p.Gly94Ter)
|
rs2069240492
|
|
NM_000091.5(COL4A3):c.2830_2831delinsG (p.Pro944fs)
|
|
|
NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter)
|
rs2072184526
|
|
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs)
|
rs1553760802
|
|
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)
|
|
|
NM_000091.5(COL4A3):c.2870del (p.Pro957fs)
|
|
|
NM_000091.5(COL4A3):c.2950A>T (p.Lys984Ter)
|
|
|
NM_000091.5(COL4A3):c.2953G>T (p.Gly985Ter)
|
rs2072530756
|
|
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)
|
rs1553762113
|
|
NM_000091.5(COL4A3):c.2T>C (p.Met1Thr)
|
rs1553725815
|
|
NM_000091.5(COL4A3):c.304dup (p.Ser102fs)
|
|
|
NM_000091.5(COL4A3):c.305del (p.Ser102fs)
|
rs2069242131
|
|
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs)
|
rs1064796094
|
|
NM_000091.5(COL4A3):c.3070+1G>A
|
rs2106206598
|
|
NM_000091.5(COL4A3):c.309_317del (p.Ser104_Gly106del)
|
rs1553750572
|
|
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val)
|
rs2072649241
|
|
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter)
|
rs1553762279
|
|
NM_000091.5(COL4A3):c.3176C>A (p.Ser1059Ter)
|
rs2072651666
|
|
NM_000091.5(COL4A3):c.3206del (p.Pro1069fs)
|
|
|
NM_000091.5(COL4A3):c.3211-1G>C
|
rs1553762936
|
|
NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala)
|
|
|
NM_000091.5(COL4A3):c.325-1G>A
|
rs762518741
|
|
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu)
|
rs1574813350
|
|
NM_000091.5(COL4A3):c.3292G>T (p.Gly1098Ter)
|
|
|
NM_000091.5(COL4A3):c.3327_3330del (p.Gly1110fs)
|
|
|
NM_000091.5(COL4A3):c.3337+1del
|
rs1350835100
|
|
NM_000091.5(COL4A3):c.3362T>A (p.Leu1121Ter)
|
rs2072936269
|
|
NM_000091.5(COL4A3):c.3370A>T (p.Lys1124Ter)
|
rs2072936529
|
|
NM_000091.5(COL4A3):c.3373G>T (p.Gly1125Ter)
|
rs2072936636
|
|
NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg)
|
|
|
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg)
|
rs749383170
|
|
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser)
|
rs774583962
|
|
NM_000091.5(COL4A3):c.3561_3562del (p.Gln1188fs)
|
|
|
NM_000091.5(COL4A3):c.3565G>T (p.Gly1189Ter)
|
rs2072983130
|
|
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu)
|
rs1574823172
|
|
NM_000091.5(COL4A3):c.3647del (p.Gly1216fs)
|
|
|
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg)
|
rs1559913871
|
|
NM_000091.5(COL4A3):c.3749del (p.Pro1250fs)
|
|
|
NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg)
|
rs2106250807
|
|
NM_000091.5(COL4A3):c.388-1G>T
|
rs1553750900
|
|
NM_000091.5(COL4A3):c.388-2A>G
|
rs2069361375
|
|
NM_000091.5(COL4A3):c.3883-2A>G
|
rs1553765265
|
|
NM_000091.5(COL4A3):c.3915del (p.Arg1306fs)
|
|
|
NM_000091.5(COL4A3):c.3952A>T (p.Lys1318Ter)
|
rs2073363435
|
|
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser)
|
rs759739044
|
|
NM_000091.5(COL4A3):c.3968_3970delinsTT (p.Asn1323fs)
|
|
|
NM_000091.5(COL4A3):c.4004del (p.Pro1335fs)
|
|
|
NM_000091.5(COL4A3):c.4036G>T (p.Gly1346Ter)
|
rs2073400756
|
|
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
|
rs2073401281
|
|
NM_000091.5(COL4A3):c.4054A>T (p.Lys1352Ter)
|
rs2073401408
|
|
NM_000091.5(COL4A3):c.4100del (p.Gly1367fs)
|
|
|
NM_000091.5(COL4A3):c.4207G>T (p.Gly1403Ter)
|
|
|
NM_000091.5(COL4A3):c.4219G>T (p.Glu1407Ter)
|
rs2073446479
|
|
NM_000091.5(COL4A3):c.4240A>T (p.Lys1414Ter)
|
|
|
NM_000091.5(COL4A3):c.4270G>T (p.Gly1424Ter)
|
rs2073567181
|
|
NM_000091.5(COL4A3):c.4298del (p.Gly1433fs)
|
|
|
NM_000091.5(COL4A3):c.4307del (p.Gly1436fs)
|
|
|
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs)
|
rs776244020
|
|
NM_000091.5(COL4A3):c.4429C>T (p.Gln1477Ter)
|
|
|
NM_000091.5(COL4A3):c.4515C>A (p.Cys1505Ter)
|
rs2073628823
|
|
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)
|
rs759873621
|
|
NM_000091.5(COL4A3):c.4559C>A (p.Ser1520Ter)
|
|
|
NM_000091.5(COL4A3):c.4566G>A (p.Trp1522Ter)
|
rs2073630720
|
|
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter)
|
rs121912825
|
|
NM_000091.5(COL4A3):c.4615A>T (p.Arg1539Ter)
|
|
|
NM_000091.5(COL4A3):c.4625_4626del (p.Glu1542fs)
|
|
|
NM_000091.5(COL4A3):c.4634_4635del (p.Ile1545fs)
|
|
|
NM_000091.5(COL4A3):c.4640+1G>A
|
rs1553766404
|
|
NM_000091.5(COL4A3):c.468+1G>A
|
rs1553751122
|
|
NM_000091.5(COL4A3):c.468+1G>T
|
rs1553751122
|
|
NM_000091.5(COL4A3):c.468+1del
|
rs1553751120
|
|
NM_000091.5(COL4A3):c.4710T>A (p.Cys1570Ter)
|
|
|
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg)
|
rs2073646176
|
|
NM_000091.5(COL4A3):c.4756-1G>A
|
rs1553766735
|
|
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs)
|
rs867868993
|
|
NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter)
|
rs1351781261
|
|
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys)
|
rs2069716520
|
|
NM_000091.5(COL4A3):c.570del (p.Pro191fs)
|
|
|
NM_000091.5(COL4A3):c.610-1G>A
|
|
|
NM_000091.5(COL4A3):c.615del (p.Pro206fs)
|
|
|
NM_000091.5(COL4A3):c.643A>T (p.Lys215Ter)
|
|
|
NM_000091.5(COL4A3):c.645+2T>C
|
rs1553752199
|
|
NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp)
|
|
|
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val)
|
rs2069900248
|
|
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)
|
rs1469479748
|
|
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu)
|
rs1574698507
|
|
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)
|
rs2125932297
|
|
NM_000091.5(COL4A3):c.700_701del (p.Leu234fs)
|
|
|
NM_000091.5(COL4A3):c.713dup (p.Pro240fs)
|
rs988439345
|
|
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu)
|
rs1574699806
|
|
NM_000091.5(COL4A3):c.737_738insATGTGTATAAGAGACA (p.Val246_Thr247insCysValTer)
|
|
|
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter)
|
rs2125934541
|
|
NM_000091.5(COL4A3):c.803dup (p.Glu269fs)
|
|
|
NM_000091.5(COL4A3):c.829-2A>C
|
rs1553753119
|
|
NM_000091.5(COL4A3):c.833dup (p.Pro279fs)
|
rs1363680371
|
|
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu)
|
rs1425230568
|
|
NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu)
|
rs1422638161
|
|
NM_000091.5(COL4A3):c.894del (p.Lys298fs)
|
rs2070145822
|
|
NM_000091.5(COL4A3):c.94_95del (p.Val32fs)
|
|
|
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)
|
rs1559872489
|
|
NM_000091.5(COL4A3):c.991C>T (p.Gln331Ter)
|
rs768527987
|
|
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs)
|
rs1575895541
|
|
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs)
|
rs1553690604
|
|
NM_000092.5(COL4A4):c.1027A>T (p.Lys343Ter)
|
rs2060519888
|
|
NM_000092.5(COL4A4):c.1029+2T>C
|
rs1553682895
|
|
NM_000092.5(COL4A4):c.1030-2A>C
|
rs1553681714
|
|
NM_000092.5(COL4A4):c.1030-2del
|
rs2150750057
|
|
NM_000092.5(COL4A4):c.1033_1050del (p.Asp345_Gly350del)
|
rs990679247
|
|
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)
|
rs534522842
|
|
NM_000092.5(COL4A4):c.1073T>A (p.Leu358Ter)
|
|
|
NM_000092.5(COL4A4):c.1099+1G>T
|
rs1372782305
|
|
NM_000092.5(COL4A4):c.114+1G>C
|
rs1553712110
|
|
NM_000092.5(COL4A4):c.1153G>T (p.Gly385Ter)
|
|
|
NM_000092.5(COL4A4):c.1222_1235del (p.Gly408fs)
|
rs2150687684
|
|
NM_000092.5(COL4A4):c.1268del (p.Gly423fs)
|
|
|
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)
|
rs773081522
|
|
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del)
|
rs1203564054
|
|
NM_000092.5(COL4A4):c.1369+1G>A
|
rs1553676230
|
|
NM_000092.5(COL4A4):c.1400del (p.Pro467fs)
|
|
|
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter)
|
rs2059821994
|
|
NM_000092.5(COL4A4):c.1444_1446delinsTC (p.Pro482fs)
|
|
|
NM_000092.5(COL4A4):c.1459+1G>A
|
|
|
NM_000092.5(COL4A4):c.1476_1477del (p.Ala493fs)
|
rs2150596830
|
|
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter)
|
rs2150595867
|
|
NM_000092.5(COL4A4):c.1543G>T (p.Gly515Ter)
|
|
|
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val)
|
rs2150595484
|
|
NM_000092.5(COL4A4):c.1554del (p.Leu519fs)
|
|
|
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp)
|
rs2059360185
|
|
NM_000092.5(COL4A4):c.1685C>A (p.Ser562Ter)
|
rs2059358378
|
|
NM_000092.5(COL4A4):c.1696+1G>A
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1696+1G>T
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1697-1G>A
|
rs1559569975
|
|
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala)
|
rs1446915781
|
|
NM_000092.5(COL4A4):c.171T>A (p.Cys57Ter)
|
|
|
NM_000092.5(COL4A4):c.1748del (p.Pro583fs)
|
|
|
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs)
|
rs2150505385
|
|
NM_000092.5(COL4A4):c.1809_1813del (p.Asp603fs)
|
|
|
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser)
|
rs1559563525
|
|
NM_000092.5(COL4A4):c.1850dup (p.Leu618fs)
|
|
|
NM_000092.5(COL4A4):c.1865dup (p.Lys623fs)
|
|
|
NM_000092.5(COL4A4):c.186dup (p.Ser63fs)
|
|
|
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del)
|
rs1553658892
|
|
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val)
|
rs2059121113
|
|
NM_000092.5(COL4A4):c.1973T>A (p.Leu658Ter)
|
rs2059119564
|
|
NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp)
|
rs1553644402
|
|
NM_000092.5(COL4A4):c.2137G>T (p.Gly713Ter)
|
rs1976602205
|
|
NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg)
|
|
|
NM_000092.5(COL4A4):c.2197G>T (p.Gly733Ter)
|
|
|
NM_000092.5(COL4A4):c.2207del (p.Lys736fs)
|
|
|
NM_000092.5(COL4A4):c.2211delinsTGCTAATTC (p.Ser738fs)
|
|
|
NM_000092.5(COL4A4):c.2241del (p.Gly748fs)
|
|
|
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs)
|
rs1553643669
|
|
NM_000092.5(COL4A4):c.2297_2298del (p.His766fs)
|
|
|
NM_000092.5(COL4A4):c.2346del (p.Gly783fs)
|
|
|
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg)
|
rs768003309
|
|
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
|
rs200814061
|
|
NM_000092.5(COL4A4):c.2532T>A (p.Tyr844Ter)
|
|
|
NM_000092.5(COL4A4):c.2545+2T>G
|
rs1559515075
|
|
NM_000092.5(COL4A4):c.2546-1G>C
|
rs1553641728
|
|
NM_000092.5(COL4A4):c.2599G>T (p.Gly867Ter)
|
rs768902127
|
|
NM_000092.5(COL4A4):c.2629_2664del (p.Arg877_Gly888del)
|
rs2150234491
|
|
NM_000092.5(COL4A4):c.2634_2660del (p.Ala880_Gly888del)
|
|
|
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg)
|
rs1363277825
|
|
NM_000092.5(COL4A4):c.2672_2673insCATCATC (p.Pro892fs)
|
|
|
NM_000092.5(COL4A4):c.2672_2680delinsT (p.Gly891fs)
|
|
|
NM_000092.5(COL4A4):c.2726G>A (p.Gly909Glu)
|
rs2150221180
|
|
NM_000092.5(COL4A4):c.274G>T (p.Gly92Ter)
|
rs2061755379
|
|
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser)
|
|
|
NM_000092.5(COL4A4):c.2817_2819delinsTATAAGAGACA (p.Met940fs)
|
|
|
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs)
|
rs1559508134
|
|
NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg)
|
|
|
NM_000092.5(COL4A4):c.2880dup (p.Asp961fs)
|
|
|
NM_000092.5(COL4A4):c.2894dup (p.Met965fs)
|
|
|
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs)
|
rs1974295317
|
|
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer)
|
rs748473278
|
|
NM_000092.5(COL4A4):c.2968+1G>T
|
|
|
NM_000092.5(COL4A4):c.2969-1G>C
|
rs1553639043
|
|
NM_000092.5(COL4A4):c.2992C>T (p.Gln998Ter)
|
rs1974009894
|
|
NM_000092.5(COL4A4):c.3000_3004del (p.Gly1002fs)
|
|
|
NM_000092.5(COL4A4):c.3005dup (p.Glu1003fs)
|
|
|
NM_000092.5(COL4A4):c.3021C>G (p.Tyr1007Ter)
|
rs746105339
|
|
NM_000092.5(COL4A4):c.3031G>T (p.Gly1011Ter)
|
|
|
NM_000092.5(COL4A4):c.3039_3040del (p.His1013fs)
|
|
|
NM_000092.5(COL4A4):c.3058A>T (p.Lys1020Ter)
|
|
|
NM_000092.5(COL4A4):c.3064C>T (p.Gln1022Ter)
|
rs1973992894
|
|
NM_000092.5(COL4A4):c.3130_3132delinsT (p.Pro1044fs)
|
|
|
NM_000092.5(COL4A4):c.3151-2A>G
|
rs1369097739
|
|
NM_000092.5(COL4A4):c.3177del (p.Gly1060fs)
|
|
|
NM_000092.5(COL4A4):c.3185C>A (p.Ser1062Ter)
|
|
|
NM_000092.5(COL4A4):c.3194_3195del (p.Asp1065fs)
|
|
|
NM_000092.5(COL4A4):c.3214+1G>A
|
rs747167770
|
|
NM_000092.5(COL4A4):c.3220A>T (p.Lys1074Ter)
|
rs1973140216
|
|
NM_000092.5(COL4A4):c.3244_3245delinsT (p.Gly1082fs)
|
|
|
NM_000092.5(COL4A4):c.3259A>T (p.Lys1087Ter)
|
rs1973132502
|
|
NM_000092.5(COL4A4):c.3263G>T (p.Gly1088Val)
|
|
|
NM_000092.5(COL4A4):c.328-1G>A
|
rs754669149
|
|
NM_000092.5(COL4A4):c.3281del (p.Gly1094fs)
|
|
|
NM_000092.5(COL4A4):c.3289+1G>C
|
rs1973128133
|
|
NM_000092.5(COL4A4):c.3297del (p.Phe1099fs)
|
|
|
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter)
|
rs1971792460
|
|
NM_000092.5(COL4A4):c.3424G>T (p.Gly1142Ter)
|
|
|
NM_000092.5(COL4A4):c.3457A>T (p.Arg1153Ter)
|
rs1971610561
|
|
NM_000092.5(COL4A4):c.3466dup (p.Gln1156fs)
|
|
|
NM_000092.5(COL4A4):c.3559G>A (p.Gly1187Arg)
|
rs1968850188
|
|
NM_000092.5(COL4A4):c.3565A>T (p.Lys1189Ter)
|
rs1968848668
|
|
NM_000092.5(COL4A4):c.3574_3577+8del
|
rs1553627655
|
|
NM_000092.5(COL4A4):c.3594del (p.Pro1199fs)
|
|
|
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg)
|
rs1968585119
|
|
NM_000092.5(COL4A4):c.3626_3627del (p.Lys1209fs)
|
|
|
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys)
|
rs781360383
|
|
NM_000092.5(COL4A4):c.3719del (p.Pro1240fs)
|
|
|
NM_000092.5(COL4A4):c.372+2T>G
|
rs1553696207
|
|
NM_000092.5(COL4A4):c.3755del (p.Lys1252fs)
|
|
|
NM_000092.5(COL4A4):c.3933C>A (p.Tyr1311Ter)
|
rs1433065763
|
|
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter)
|
rs1489351299
|
|
NM_000092.5(COL4A4):c.3973+1G>T
|
rs755478262
|
|
NM_000092.5(COL4A4):c.4002_4005dup (p.His1336fs)
|
rs1553624127
|
|
NM_000092.5(COL4A4):c.4093G>T (p.Glu1365Ter)
|
rs2149854376
|
|
NM_000092.5(COL4A4):c.4125T>A (p.Cys1375Ter)
|
|
|
NM_000092.5(COL4A4):c.4208C>G (p.Ser1403Ter)
|
|
|
NM_000092.5(COL4A4):c.4271_4272del (p.Gly1424fs)
|
|
|
NM_000092.5(COL4A4):c.4324G>T (p.Gly1442Ter)
|
rs1963884904
|
|
NM_000092.5(COL4A4):c.4333+2T>C
|
rs755927061
|
|
NM_000092.5(COL4A4):c.4334-23A>G
|
rs766501515
|
|
NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del)
|
rs2149745228
|
|
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg)
|
rs1963420059
|
|
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val)
|
rs374815903
|
|
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr)
|
rs1962651394
|
|
NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs)
|
rs2149722718
|
|
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter)
|
rs369922627
|
|
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs)
|
rs2149721718
|
|
NM_000092.5(COL4A4):c.4679_4683del (p.Arg1560fs)
|
rs1553612499
|
|
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
|
rs1962591629
|
|
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs)
|
rs2149720724
|
|
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs)
|
rs1206142672
|
|
NM_000092.5(COL4A4):c.4809+1G>A
|
rs1553612309
|
|
NM_000092.5(COL4A4):c.487dup (p.Leu163fs)
|
|
|
NM_000092.5(COL4A4):c.4903C>T (p.Gln1635Ter)
|
rs1553611947
|
|
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp)
|
rs2061397001
|
|
NM_000092.5(COL4A4):c.4921T>C (p.Cys1641Arg)
|
|
|
NM_000092.5(COL4A4):c.4932delinsTT (p.Ala1645fs)
|
rs1553611909
|
|
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu)
|
rs1553611876
|
|
NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter)
|
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val)
|
rs1559646395
|
|
NM_000092.5(COL4A4):c.640G>T (p.Gly214Ter)
|
|
|
NM_000092.5(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla)
|
rs1553688712
|
|
NM_000092.5(COL4A4):c.657+1G>T
|
rs1553688696
|
|
NM_000092.5(COL4A4):c.673_680del (p.Pro225fs)
|
rs1553688330
|
|
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg)
|
rs2060994526
|
|
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter)
|
rs1201925443
|
|
NM_000092.5(COL4A4):c.727G>T (p.Gly243Ter)
|
|
|
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala)
|
rs2060993539
|
|
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp)
|
rs760795817
|
|
NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala)
|
|
|
NM_000092.5(COL4A4):c.75_76del (p.Leu26fs)
|
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000092.5(COL4A4):c.871-1G>C
|
rs375450996
|
|
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg)
|
|
|
NM_000092.5(COL4A4):c.913G>T (p.Gly305Ter)
|
|
|
NM_000092.5(COL4A4):c.940G>T (p.Gly314Cys)
|
|
|
NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp)
|
rs1005389790
|
|
NM_000092.5(COL4A4):c.948T>A (p.Tyr316Ter)
|
rs34509421
|
|
NM_000092.5(COL4A4):c.975+1G>C
|
rs1553683192
|
|
NM_000092.5(COL4A4):c.994G>A (p.Gly332Arg)
|
|
|
NM_000092.5(COL4A4):c.994G>T (p.Gly332Ter)
|
rs2060521689
|
|
NM_000123.3:c.89-?_528+?del
|
|
|
NM_000123.4(ERCC5):c.1068del (p.Ser357fs)
|
rs1325131028
|
|
NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)
|
|
|
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter)
|
rs1244074570
|
|
NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr)
|
rs755253596
|
|
NM_000123.4(ERCC5):c.2427del (p.Asp809fs)
|
rs777455688
|
|
NM_000123.4(ERCC5):c.2705del (p.Asn902fs)
|
|
|
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter)
|
rs9514067
|
|
NM_000123.4(ERCC5):c.323del (p.Lys108fs)
|
|
|
NM_000123.4(ERCC5):c.381-2A>G
|
|
|
NM_000124.4(ERCC6):c.-15+3G>T
|
rs1010201937
|
|
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)
|
rs1198241866
|
|
NM_000124.4(ERCC6):c.1040del (p.Gly347fs)
|
|
|
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter)
|
rs1554793270
|
|
NM_000124.4(ERCC6):c.1154delinsTACACTTTT (p.Asp385fs)
|
|
|
NM_000124.4(ERCC6):c.1174G>T (p.Glu392Ter)
|
|
|
NM_000124.4(ERCC6):c.1212_1213del (p.Lys405fs)
|
|
|
NM_000124.4(ERCC6):c.1213A>T (p.Lys405Ter)
|
|
|
NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs)
|
|
|
NM_000124.4(ERCC6):c.1274_1275insGCTTCAG (p.Asp425fs)
|
|
|
NM_000124.4(ERCC6):c.1307_1316del (p.Ala436fs)
|
|
|
NM_000124.4(ERCC6):c.1342A>T (p.Lys448Ter)
|
|
|
NM_000124.4(ERCC6):c.1397+1G>C
|
rs1554793174
|
|
NM_000124.4(ERCC6):c.1467_1468del (p.Ser489fs)
|
|
|
NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter)
|
rs1851434105
|
|
NM_000124.4(ERCC6):c.1518del (p.Lys506fs)
|
rs786205168
|
|
NM_000124.4(ERCC6):c.1527-2A>G
|
rs768608345
|
|
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro)
|
rs1057518910
|
|
NM_000124.4(ERCC6):c.1684A>T (p.Arg562Trp)
|
rs777252763
|
|
NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter)
|
|
|
NM_000124.4(ERCC6):c.1738C>T (p.Gln580Ter)
|
|
|
NM_000124.4(ERCC6):c.1759_1760del (p.Thr587fs)
|
|
|
NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter)
|
rs768188064
|
|
NM_000124.4(ERCC6):c.1815del (p.His605fs)
|
|
|
NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter)
|
rs961060711
|
|
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs)
|
rs1554789393
|
|
NM_000124.4(ERCC6):c.1867_1869delinsT (p.Thr623fs)
|
|
|
NM_000124.4(ERCC6):c.1905del (p.Ser636fs)
|
|
|
NM_000124.4(ERCC6):c.1914T>A (p.Tyr638Ter)
|
|
|
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter)
|
rs1851015811
|
|
NM_000124.4(ERCC6):c.1926T>A (p.Tyr642Ter)
|
|
|
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)
|
rs767247987
|
|
NM_000124.4(ERCC6):c.2035C>T (p.Gln679Ter)
|
|
|
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)
|
rs751292948
|
|
NM_000124.4(ERCC6):c.207dup (p.Pro70fs)
|
rs1554794641
|
|
NM_000124.4(ERCC6):c.2106del (p.Phe703fs)
|
|
|
NM_000124.4(ERCC6):c.2134_2135del (p.Thr712fs)
|
|
|
NM_000124.4(ERCC6):c.214del (p.Leu72fs)
|
rs1554794640
|
|
NM_000124.4(ERCC6):c.2166del (p.Gln723fs)
|
|
|
NM_000124.4(ERCC6):c.2169+1G>A
|
rs1441655600
|
|
NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter)
|
rs1850916835
|
|
NM_000124.4(ERCC6):c.2286+1G>A
|
rs1362935450
|
|
NM_000124.4(ERCC6):c.2307_2308insATTGT (p.Asp770fs)
|
|
|
NM_000124.4(ERCC6):c.2336del (p.Phe779fs)
|
rs2132544294
|
|
NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter)
|
rs1850874595
|
|
NM_000124.4(ERCC6):c.2383-1G>A
|
rs1554787554
|
|
NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter)
|
rs1850832795
|
|
NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter)
|
rs1850832063
|
|
NM_000124.4(ERCC6):c.2547_2550del (p.Lys849fs)
|
|
|
NM_000124.4(ERCC6):c.2548del (p.Ile850fs)
|
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
NM_000124.4(ERCC6):c.2566C>T (p.Gln856Ter)
|
rs1850831525
|
|
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs)
|
rs1554794620
|
|
NM_000124.4(ERCC6):c.2636del (p.Lys879fs)
|
|
|
NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)
|
|
|
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr)
|
rs1554875536
|
|
NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter)
|
rs1283213117
|
|
NM_000124.4(ERCC6):c.2829+1G>A
|
rs1554875522
|
|
NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter)
|
rs1850797541
|
|
NM_000124.4(ERCC6):c.2881_2882insTCTTCGT (p.Arg961fs)
|
|
|
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs)
|
rs1590406503
|
|
NM_000124.4(ERCC6):c.3002_3003delinsA (p.Leu1001fs)
|
|
|
NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter)
|
rs1850770605
|
|
NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter)
|
rs1850769140
|
|
NM_000124.4(ERCC6):c.3071-1G>A
|
rs1554875287
|
|
NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter)
|
rs1850766086
|
|
NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs)
|
rs1850765501
|
|
NM_000124.4(ERCC6):c.3234_3235del (p.Glu1079fs)
|
|
|
NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter)
|
rs144445150
|
|
NM_000124.4(ERCC6):c.3322G>T (p.Gly1108Ter)
|
|
|
NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter)
|
rs1850759141
|
|
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs)
|
rs786205170
|
|
NM_000124.4(ERCC6):c.3448A>T (p.Lys1150Ter)
|
rs1850757159
|
|
NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter)
|
rs1286402535
|
|
NM_000124.4(ERCC6):c.3489_3490del (p.Gln1164fs)
|
|
|
NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs)
|
|
|
NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter)
|
rs1850754584
|
|
NM_000124.4(ERCC6):c.3571_3572insATCGT (p.Ala1191fs)
|
|
|
NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter)
|
rs1850753467
|
|
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs)
|
rs1287286877
|
|
NM_000124.4(ERCC6):c.3598_3599del (p.Leu1200fs)
|
|
|
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)
|
rs786205172
|
|
NM_000124.4(ERCC6):c.3612_3613insT (p.Lys1205Ter)
|
rs786205173
|
|
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs)
|
rs1554875155
|
|
NM_000124.4(ERCC6):c.3623_3624insTG (p.Ser1209fs)
|
|
|
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter)
|
rs1554875154
|
|
NM_000124.4(ERCC6):c.3637A>T (p.Arg1213Ter)
|
rs2228527
|
|
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter)
|
rs1850750513
|
|
NM_000124.4(ERCC6):c.3677_3678del (p.Val1226fs)
|
|
|
NM_000124.4(ERCC6):c.3682A>T (p.Lys1228Ter)
|
|
|
NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter)
|
rs1850747928
|
|
NM_000124.4(ERCC6):c.3768_3769delinsT (p.Lys1258fs)
|
|
|
NM_000124.4(ERCC6):c.3778+1G>A
|
rs1554875114
|
|
NM_000124.4(ERCC6):c.3778+1G>C
|
rs1554875114
|
|
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs)
|
rs1386369933
|
|
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs)
|
rs1554874073
|
|
NM_000124.4(ERCC6):c.3984-2A>G
|
rs1554873973
|
|
NM_000124.4(ERCC6):c.39_49delinsA (p.Glu14fs)
|
rs2132639937
|
|
NM_000124.4(ERCC6):c.4062+2T>A
|
rs1554873950
|
|
NM_000124.4(ERCC6):c.4146del (p.Leu1384fs)
|
|
|
NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer)
|
rs1850531575
|
|
NM_000124.4(ERCC6):c.41_50del (p.Glu14fs)
|
rs1272960343
|
|
NM_000124.4(ERCC6):c.422+1G>C
|
rs1198472093
|
|
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer)
|
rs1554794360
|
|
NM_000124.4(ERCC6):c.454A>T (p.Lys152Ter)
|
|
|
NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter)
|
|
|
NM_000124.4(ERCC6):c.542dup (p.Glu182fs)
|
|
|
NM_000124.4(ERCC6):c.543+1G>T
|
rs1837448977
|
|
NM_000124.4(ERCC6):c.544-2A>G
|
rs1554794073
|
|
NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter)
|
rs1837393519
|
|
NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter)
|
|
|
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)
|
rs577021605
|
|
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)
|
rs875989810
|
|
NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter)
|
|
|
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs)
|
rs1254008304
|
|
NM_000138.5(FBN1):c.1867T>A (p.Cys623Ser)
|
rs2141317422
|
|
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)
|
rs1057519044
|
|
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)
|
rs121918506
|
|
NM_000144.5(FXN):c.166-5T>G
|
rs2133102338
|
|
NM_000144.5(FXN):c.517T>G (p.Trp173Gly)
|
rs56214919
|
|
NM_000158.4(GBE1):c.1459G>T (p.Asp487Tyr)
|
rs2106933976
|
|
NM_000161.3(GCH1):c.644T>C (p.Met215Thr)
|
rs2140038918
|
|
NM_000162.5(GCK):c.1155del (p.Leu386fs)
|
rs1400535021
|
|
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)
|
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
NM_000162.5(GCK):c.359dup (p.Met121fs)
|
rs2128822614
|
|
NM_000162.5(GCK):c.391T>C (p.Ser131Pro)
|
rs104894010
|
|
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)
|
rs142952813
|
|
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)
|
rs193922335
|
|
NM_000163.5(GHR):c.344A>C (p.Asn115Thr)
|
rs1579626395
|
|
NM_000163.5(GHR):c.618+792A>G
|
rs1011727375
|
|
NM_000163.5(GHR):c.70+5G>A
|
rs2112477601
|
|
NM_000165.5(GJA1):c.121G>C (p.Val41Leu)
|
|
|
NM_000165.5(GJA1):c.131C>T (p.Ala44Val)
|
rs794729675
|
|
NM_000165.5(GJA1):c.142G>A (p.Glu48Lys)
|
rs1773899790
|
|
NM_000165.5(GJA1):c.196T>C (p.Tyr66His)
|
rs2114283106
|
|
NM_000165.5(GJA1):c.226C>T (p.Arg76Cys)
|
|
|
NM_000165.5(GJA1):c.246C>G (p.Ile82Met)
|
rs1773901440
|
|
NM_000165.5(GJA1):c.413G>A (p.Gly138Asp)
|
rs1554201019
|
|
NM_000165.5(GJA1):c.461C>A (p.Thr154Asn)
|
|
|
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)
|
rs61749670
|
|
NM_000180.4(GUCY2D):c.1012del (p.Leu338fs)
|
|
|
NM_000180.4(GUCY2D):c.1026+2T>C
|
|
|
NM_000180.4(GUCY2D):c.1040_1041del (p.Phe347fs)
|
rs763890649
|
|
NM_000180.4(GUCY2D):c.1211T>C (p.Leu404Pro)
|
rs1975743813
|
|
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
NM_000180.4(GUCY2D):c.1391del (p.Gly464fs)
|
rs1567958644
|
|
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs)
|
rs1598146589
|
|
NM_000180.4(GUCY2D):c.144del (p.Ala49fs)
|
rs1567956946
|
|
NM_000180.4(GUCY2D):c.1567-1G>C
|
rs2151801050
|
|
NM_000180.4(GUCY2D):c.1749+1G>A
|
rs2151801563
|
|
NM_000180.4(GUCY2D):c.1750-12_1752del
|
|
|
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
|
|
|
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp)
|
rs1975862803
|
|
NM_000180.4(GUCY2D):c.1924T>G (p.Phe642Val)
|
rs1975868246
|
|
NM_000180.4(GUCY2D):c.1937T>C (p.Leu646Pro)
|
rs1975868606
|
|
NM_000180.4(GUCY2D):c.1943T>C (p.Leu648Pro)
|
rs1975868797
|
|
NM_000180.4(GUCY2D):c.1956+2T>A
|
rs61749758
|
|
NM_000180.4(GUCY2D):c.2006C>G (p.Ser669Ter)
|
rs2151802518
|
|
NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val)
|
rs781725943
|
|
NM_000180.4(GUCY2D):c.2135A>T (p.Glu712Val)
|
rs2151802780
|
|
NM_000180.4(GUCY2D):c.218C>T (p.Pro73Leu)
|
rs750153057
|
|
NM_000180.4(GUCY2D):c.2210AAG[1] (p.Glu738del)
|
|
|
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs)
|
rs1598149659
|
|
NM_000180.4(GUCY2D):c.2263+1G>A
|
|
|
NM_000180.4(GUCY2D):c.2264-1G>A
|
|
|
NM_000180.4(GUCY2D):c.2338T>C (p.Cys780Arg)
|
rs1975909279
|
|
NM_000180.4(GUCY2D):c.2393T>G (p.Met798Arg)
|
rs1975911358
|
|
NM_000180.4(GUCY2D):c.2412+2T>C
|
rs2151803131
|
|
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro)
|
rs962715477
|
|
NM_000180.4(GUCY2D):c.2545A>G (p.Thr849Ala)
|
rs2151803362
|
|
NM_000180.4(GUCY2D):c.2576+1G>A
|
|
|
NM_000180.4(GUCY2D):c.2577-2A>G
|
|
|
NM_000180.4(GUCY2D):c.2627T>C (p.Phe876Ser)
|
rs762981013
|
|
NM_000180.4(GUCY2D):c.2660T>G (p.Val887Gly)
|
rs573270795
|
|
NM_000180.4(GUCY2D):c.2769+1G>A
|
|
|
NM_000180.4(GUCY2D):c.2770-34_2925del
|
|
|
NM_000180.4(GUCY2D):c.2783G>C (p.Gly928Ala)
|
rs1975943992
|
|
NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro)
|
rs61750179
|
|
NM_000180.4(GUCY2D):c.2836G>A (p.Ala946Thr)
|
rs1975945845
|
|
NM_000180.4(GUCY2D):c.2836G>T (p.Ala946Ser)
|
rs1975945845
|
|
NM_000180.4(GUCY2D):c.2848G>A (p.Ala950Thr)
|
rs1306952187
|
|
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val)
|
rs61750181
|
|
NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg)
|
rs2151803661
|
|
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)
|
rs61750184
|
|
NM_000180.4(GUCY2D):c.2939A>T (p.His980Leu)
|
rs764954235
|
|
NM_000180.4(GUCY2D):c.2944+1del
|
rs61750185
|
|
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)
|
|
|
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp)
|
rs61750187
|
|
NM_000180.4(GUCY2D):c.3020C>T (p.Ser1007Leu)
|
|
|
NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu)
|
rs61750188
|
|
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg)
|
rs868612148
|
|
NM_000180.4(GUCY2D):c.3043+4A>T
|
rs61750189
|
|
NM_000180.4(GUCY2D):c.3043+5G>A
|
rs751822337
|
|
NM_000180.4(GUCY2D):c.3056A>C (p.His1019Pro)
|
rs1429807175
|
|
NM_000180.4(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034fs)
|
rs1555635925
|
|
NM_000180.4(GUCY2D):c.3163T>G (p.Trp1055Gly)
|
rs1975971228
|
|
NM_000180.4(GUCY2D):c.3224+3G>T
|
rs1258995063
|
|
NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys)
|
rs63340060
|
|
NM_000180.4(GUCY2D):c.52_99dup (p.Gly18_Leu33dup)
|
rs63749076
|
|
NM_000180.4(GUCY2D):c.571dup (p.Gln191fs)
|
|
|
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly)
|
rs1975686657
|
|
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg)
|
rs768206746
|
|
NM_000180.4(GUCY2D):c.826del (p.Leu276fs)
|
rs2151799674
|
|
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn)
|
rs1478566225
|
|
NM_000180.4(GUCY2D):c.929C>A (p.Thr310Asn)
|
rs1975693830
|
|
NM_000180.4(GUCY2D):c.[1978C>T];[3038G>A]
|
|
|
NM_000180.4(GUCY2D):c.[1991A>C];[2649del]
|
|
|
NM_000180.4(GUCY2D):c.[1991A>C];[2984G>A]
|
|
|
NM_000180.4(GUCY2D):c.[2649del];[3038G>A]
|
|
|
NM_000180.4(GUCY2D):c.[2818C>T];[3038G>A]
|
|
|
NM_000180.4(GUCY2D):c.[2984G>A];[3044-1G>C]
|
|
|
NM_000207.3(INS):c.26C>G (p.Pro9Arg)
|
rs1564912403
|
|
NM_000207.3(INS):c.308A>G (p.Tyr103Cys)
|
rs121908277
|
|
NM_000208.4(INSR):c.1610+1G>A
|
|
|
NM_000208.4(INSR):c.2810C>T (p.Thr937Met)
|
|
|
NM_000211.5(ITGB2):c.120del (p.Gly42fs)
|
|
|
NM_000211.5(ITGB2):c.1835G>T (p.Cys612Phe)
|
rs2083749716
|
|
NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs)
|
rs1568879914
|
|
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter)
|
rs1464015799
|
|
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter)
|
rs772471533
|
|
NM_000211.5(ITGB2):c.393T>A (p.Tyr131Ter)
|
|
|
NM_000211.5(ITGB2):c.59-1G>A
|
|
|
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg)
|
rs483352814
|
|
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr)
|
rs179363873
|
|
NM_000211.5(ITGB2):c.741+1G>A
|
rs1131691763
|
|
NM_000211.5(ITGB2):c.742-163_768del
|
|
|
NM_000211.5(ITGB2):c.898-1G>C
|
rs755834578
|
|
NM_000211.5(ITGB2):c.993+1G>T
|
|
|
NM_000211.5(ITGB2):c.994-1G>C
|
rs1293268696
|
|
NM_000231.3(SGCG):c.10G>T (p.Glu4Ter)
|
|
|
NM_000231.3(SGCG):c.133del (p.Ile45fs)
|
rs1555234799
|
|
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)
|
rs781760379
|
|
NM_000231.3(SGCG):c.186G>A (p.Trp62Ter)
|
rs1555234810
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.196-1G>A
|
|
|
NM_000231.3(SGCG):c.247G>T (p.Glu83Ter)
|
rs1566011034
|
|
NM_000231.3(SGCG):c.253_254del (p.Glu85fs)
|
|
|
NM_000231.3(SGCG):c.260T>A (p.Leu87Ter)
|
|
|
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
|
|
|
NM_000231.3(SGCG):c.284_287del (p.Ile95fs)
|
|
|
NM_000231.3(SGCG):c.298-2A>C
|
rs1555240119
|
|
NM_000231.3(SGCG):c.298-2A>G
|
|
|
NM_000231.3(SGCG):c.302C>A (p.Ser101Ter)
|
|
|
NM_000231.3(SGCG):c.361G>T (p.Glu121Ter)
|
|
|
NM_000231.3(SGCG):c.369dup (p.Gly124fs)
|
|
|
NM_000231.3(SGCG):c.385+1G>A
|
|
|
NM_000231.3(SGCG):c.385+2T>A
|
rs200206447
|
|
NM_000231.3(SGCG):c.385+2T>G
|
rs200206447
|
|
NM_000231.3(SGCG):c.386-2A>C
|
rs886042757
|
|
NM_000231.3(SGCG):c.386-2A>G
|
rs886042757
|
|
NM_000231.3(SGCG):c.450_456del (p.Leu150_Phe151insTer)
|
|
|
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)
|
rs1881865054
|
|
NM_000231.3(SGCG):c.575T>G (p.Leu192Arg)
|
rs1555245351
|
|
NM_000231.3(SGCG):c.578+1G>C
|
rs1555245353
|
|
NM_000231.3(SGCG):c.578+1G>T
|
|
|
NM_000231.3(SGCG):c.579-1G>A
|
|
|
NM_000231.3(SGCG):c.579-1G>C
|
|
|
NM_000231.3(SGCG):c.580_584del
|
|
|
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter)
|
rs547818652
|
|
NM_000231.3(SGCG):c.591dup (p.Thr198fs)
|
rs1555247973
|
|
NM_000231.3(SGCG):c.684del (p.His229fs)
|
rs2137528312
|
|
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg)
|
rs875989949
|
|
NM_000231.3(SGCG):c.702+1G>A
|
rs1555248000
|
|
NM_000231.3(SGCG):c.702+1G>C
|
rs1555248000
|
|
NM_000231.3(SGCG):c.721del (p.Thr241fs)
|
rs1555248289
|
|
NM_000231.3(SGCG):c.727_728del (p.Cys243fs)
|
rs758078849
|
|
NM_000231.3(SGCG):c.758dup (p.Pro254fs)
|
|
|
NM_000231.3(SGCG):c.768del (p.Ser257fs)
|
rs1199421806
|
|
NM_000231.3(SGCG):c.796del (p.Val266fs)
|
|
|
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)
|
rs780348174
|
|
NM_000231.3(SGCG):c.801_802del (p.Pro268fs)
|
rs2137534216
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000231.3(SGCG):c.85dup (p.Tyr29fs)
|
|
|
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)
|
|
|
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
|
|
|
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)
|
rs1553940963
|
|
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)
|
rs1207685911
|
|
NM_000232.5(SGCB):c.-15_8del (p.Met1fs)
|
rs1057517205
|
|
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
|
|
|
NM_000232.5(SGCB):c.102del (p.Glu35fs)
|
rs2109376007
|
|
NM_000232.5(SGCB):c.113_120delinsATAAAGAGCACA (p.Ser38fs)
|
|
|
NM_000232.5(SGCB):c.151dup (p.Arg51fs)
|
|
|
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
|
|
|
NM_000232.5(SGCB):c.216_219del (p.Phe73fs)
|
rs1057516360
|
|
NM_000232.5(SGCB):c.243+1G>T
|
rs1553940663
|
|
NM_000232.5(SGCB):c.243+2T>G
|
rs1553940661
|
|
NM_000232.5(SGCB):c.243+3_243+6del
|
rs1553940660
|
|
NM_000232.5(SGCB):c.275T>C (p.Ile92Thr)
|
|
|
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala)
|
rs1018529334
|
|
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
|
rs104893871
|
|
NM_000232.5(SGCB):c.29_33del (p.Glu10fs)
|
rs1057517064
|
|
NM_000232.5(SGCB):c.30del (p.Glu10fs)
|
rs2109380824
|
|
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)
|
rs104893870
|
|
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)
|
rs750773622
|
|
NM_000232.5(SGCB):c.33+1G>A
|
rs1553940957
|
|
NM_000232.5(SGCB):c.33+2T>A
|
rs2109380796
|
|
NM_000232.5(SGCB):c.334C>T (p.Gln112Ter)
|
rs1553940262
|
|
NM_000232.5(SGCB):c.346A>G (p.Met116Val)
|
rs752168132
|
|
NM_000232.5(SGCB):c.374del (p.Ser125fs)
|
|
|
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)
|
rs1013015106
|
|
NM_000232.5(SGCB):c.404T>A (p.Leu135Ter)
|
|
|
NM_000232.5(SGCB):c.429+2dup
|
|
|
NM_000232.5(SGCB):c.430-2A>G
|
|
|
NM_000232.5(SGCB):c.491_494delinsTTG (p.Ser164fs)
|
|
|
NM_000232.5(SGCB):c.532dup (p.Ile178fs)
|
|
|
NM_000232.5(SGCB):c.539del (p.Phe180fs)
|
rs1737176330
|
|
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)
|
rs1057517051
|
|
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)
|
rs104893868
|
|
NM_000232.5(SGCB):c.55_56insGAGACAGT (p.Lys19fs)
|
|
|
NM_000232.5(SGCB):c.573_574delinsCAA (p.Leu191fs)
|
|
|
NM_000232.5(SGCB):c.595_598del (p.Asn199fs)
|
rs762114570
|
|
NM_000232.5(SGCB):c.610T>C (p.Ser204Pro)
|
rs886044156
|
|
NM_000232.5(SGCB):c.621+2T>C
|
|
|
NM_000232.5(SGCB):c.630C>A (p.Ser210Arg)
|
|
|
NM_000232.5(SGCB):c.630C>G (p.Ser210Arg)
|
|
|
NM_000232.5(SGCB):c.650del (p.Asn217fs)
|
rs1553940079
|
|
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)
|
rs775458201
|
|
NM_000232.5(SGCB):c.699_702del (p.Phe233fs)
|
rs1057516515
|
|
NM_000232.5(SGCB):c.703dup (p.Met235fs)
|
|
|
NM_000232.5(SGCB):c.734dup (p.Gly245_Asn246insTer)
|
|
|
NM_000232.5(SGCB):c.753+5G>A
|
rs936193061
|
|
NM_000232.5(SGCB):c.75_76insTCGT (p.Ala26fs)
|
|
|
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)
|
rs771814273
|
|
NM_000232.5(SGCB):c.82_86del (p.Glu28fs)
|
rs1553940687
|
|
NM_000232.5(SGCB):c.919_921del (p.Cys307del)
|
|
|
NM_000237.3(LPL):c.991A>G (p.Lys331Glu)
|
rs2069982771
|
|
NM_000243.2(MEFV):c.[2084A>G];[2230G>T]
|
|
|
NM_000243.2:c.(?_911)_(1356_?)del
|
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.1506_1507dup (p.Ser503fs)
|
rs751375381
|
|
NM_000243.3(MEFV):c.1597_1598dup (p.Asp533fs)
|
rs1179528365
|
|
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)
|
rs104895089
|
|
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)
|
rs1355225244
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)
|
rs104895138
|
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp)
|
rs1662641467
|
|
NM_000254.3(MTR):c.1188+1G>A
|
rs2103130072
|
|
NM_000254.3(MTR):c.1330-2A>T
|
|
|
NM_000254.3(MTR):c.1515+2T>C
|
|
|
NM_000254.3(MTR):c.1954-12A>G
|
|
|
NM_000254.3(MTR):c.2021G>A (p.Arg674His)
|
rs774231870
|
|
NM_000254.3(MTR):c.2044-1G>A
|
|
|
NM_000254.3(MTR):c.2305-1G>T
|
rs1664661222
|
|
NM_000254.3(MTR):c.2305-2A>G
|
|
|
NM_000254.3(MTR):c.2406-2A>T
|
|
|
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser)
|
rs1413989228
|
|
NM_000254.3(MTR):c.2595-2A>G
|
rs1558334603
|
|
NM_000254.3(MTR):c.2758C>G (p.His920Asp)
|
rs121913579
|
|
NM_000254.3(MTR):c.2775+1G>T
|
|
|
NM_000254.3(MTR):c.2851+2T>G
|
rs2147922731
|
|
NM_000254.3(MTR):c.3007+1G>C
|
|
|
NM_000254.3(MTR):c.3008-2A>G
|
|
|
NM_000254.3(MTR):c.3008-4A>G
|
rs1224783275
|
|
NM_000254.3(MTR):c.3053dup (p.Asn1018fs)
|
rs1400658126
|
|
NM_000254.3(MTR):c.34+2T>C
|
|
|
NM_000254.3(MTR):c.3406-2A>G
|
|
|
NM_000254.3(MTR):c.503-2A>G
|
|
|
NM_000254.3(MTR):c.866-2A>C
|
|
|
NM_000254.3(MTR):c.927+1G>A
|
|
|
NM_000254.3(MTR):c.927+1G>C
|
rs1572218599
|
|
NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs)
|
rs1555051390
|
|
NM_000260.4(MYO7A):c.103C>T (p.Gln35Ter)
|
rs1951307710
|
|
NM_000260.4(MYO7A):c.1046C>A (p.Ser349Tyr)
|
rs782432573
|
|
NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs)
|
rs1591286221
|
|
NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter)
|
rs1951308166
|
|
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)
|
rs868979094
|
|
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter)
|
rs1555067598
|
|
NM_000260.4(MYO7A):c.117_132+6del
|
rs1555051567
|
|
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)
|
rs782279338
|
|
NM_000260.4(MYO7A):c.1200+1G>A
|
rs397516283
|
|
NM_000260.4(MYO7A):c.1237A>T (p.Lys413Ter)
|
|
|
NM_000260.4(MYO7A):c.133-2A>C
|
rs782064437
|
|
NM_000260.4(MYO7A):c.133del
|
rs1591224147
|
|
NM_000260.4(MYO7A):c.1343+1G>A
|
rs914189193
|
|
NM_000260.4(MYO7A):c.1348G>T (p.Glu450Ter)
|
|
|
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)
|
rs1555069238
|
|
NM_000260.4(MYO7A):c.1351C>T (p.Gln451Ter)
|
rs1953058015
|
|
NM_000260.4(MYO7A):c.1423G>T (p.Glu475Ter)
|
rs1953066164
|
|
NM_000260.4(MYO7A):c.1534G>T (p.Glu512Ter)
|
|
|
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg)
|
rs797044492
|
|
NM_000260.4(MYO7A):c.1583_1584del (p.Leu528fs)
|
|
|
NM_000260.4(MYO7A):c.1642C>T (p.Gln548Ter)
|
|
|
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys)
|
rs2135312491
|
|
NM_000260.4(MYO7A):c.1691-2A>G
|
rs1555072299
|
|
NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs)
|
rs2135345560
|
|
NM_000260.4(MYO7A):c.1798-1G>A
|
rs1555076948
|
|
NM_000260.4(MYO7A):c.1798-1G>T
|
rs1555076948
|
|
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT
|
rs1954226902
|
|
NM_000260.4(MYO7A):c.18+2T>A
|
rs564622720
|
|
NM_000260.4(MYO7A):c.1804del (p.Glu602fs)
|
rs2135406368
|
|
NM_000260.4(MYO7A):c.1843A>T (p.Lys615Ter)
|
rs1954237712
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.1885C>T (p.Gln629Ter)
|
rs1954248090
|
|
NM_000260.4(MYO7A):c.19-1G>A
|
rs111033426
|
|
NM_000260.4(MYO7A):c.1905C>A (p.Cys635Ter)
|
rs1954250327
|
|
NM_000260.4(MYO7A):c.1929dup (p.Pro644fs)
|
|
|
NM_000260.4(MYO7A):c.1931_1932del (p.Pro644fs)
|
|
|
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)
|
rs878853236
|
|
NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter)
|
rs1954477050
|
|
NM_000260.4(MYO7A):c.1974C>G (p.Tyr658Ter)
|
|
|
NM_000260.4(MYO7A):c.1977del (p.Gly660fs)
|
rs1555078942
|
|
NM_000260.4(MYO7A):c.2077_2078delinsT (p.Lys693fs)
|
|
|
NM_000260.4(MYO7A):c.2089A>T (p.Lys697Ter)
|
|
|
NM_000260.4(MYO7A):c.2093A>G (p.Gln698Arg)
|
|
|
NM_000260.4(MYO7A):c.2116del (p.Gln706fs)
|
|
|
NM_000260.4(MYO7A):c.2137_2138insAAAGGTT (p.Leu713fs)
|
|
|
NM_000260.4(MYO7A):c.2187+1G>T
|
rs111033290
|
|
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs)
|
rs1555080760
|
|
NM_000260.4(MYO7A):c.2253del (p.Gln752fs)
|
|
|
NM_000260.4(MYO7A):c.2283-2_2293del
|
rs1555082041
|
|
NM_000260.4(MYO7A):c.2287_2288del (p.Asn763fs)
|
|
|
NM_000260.4(MYO7A):c.2339del (p.Gly780fs)
|
rs1565402473
|
|
NM_000260.4(MYO7A):c.2355del (p.Asn786fs)
|
rs1591369118
|
|
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter)
|
rs1555082145
|
|
NM_000260.4(MYO7A):c.2392C>T (p.Gln798Ter)
|
rs1555082575
|
|
NM_000260.4(MYO7A):c.2425C>T (p.Gln809Ter)
|
|
|
NM_000260.4(MYO7A):c.2441del (p.Arg814fs)
|
|
|
NM_000260.4(MYO7A):c.2455C>T (p.Gln819Ter)
|
rs1955017383
|
|
NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter)
|
rs1407246264
|
|
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser)
|
rs781790246
|
|
NM_000260.4(MYO7A):c.2576_2577del (p.Leu859fs)
|
|
|
NM_000260.4(MYO7A):c.2648del (p.Glu883fs)
|
|
|
NM_000260.4(MYO7A):c.2702_2703insAA (p.Ala902fs)
|
|
|
NM_000260.4(MYO7A):c.2743G>T (p.Glu915Ter)
|
|
|
NM_000260.4(MYO7A):c.275_278dup (p.Ile94fs)
|
|
|
NM_000260.4(MYO7A):c.2764AAG[1] (p.Lys923del)
|
rs1955175992
|
|
NM_000260.4(MYO7A):c.2779del (p.Glu927fs)
|
|
|
NM_000260.4(MYO7A):c.2782C>T (p.Gln928Ter)
|
rs1955177223
|
|
NM_000260.4(MYO7A):c.2819C>A (p.Ser940Ter)
|
rs1955180601
|
|
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg)
|
rs1296612982
|
|
NM_000260.4(MYO7A):c.2839_2840insGTATAAGAGACAG (p.Phe947fs)
|
|
|
NM_000260.4(MYO7A):c.285+2T>G
|
rs782292032
|
|
NM_000260.4(MYO7A):c.2905-1G>C
|
rs1171417339
|
|
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)
|
rs782281371
|
|
NM_000260.4(MYO7A):c.2998A>T (p.Lys1000Ter)
|
|
|
NM_000260.4(MYO7A):c.3084C>A (p.Tyr1028Ter)
|
rs1955281533
|
|
NM_000260.4(MYO7A):c.3109-2A>G
|
|
|
NM_000260.4(MYO7A):c.3136dup (p.Leu1046fs)
|
rs1955319492
|
|
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer)
|
rs1555061466
|
|
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter)
|
rs116892396
|
|
NM_000260.4(MYO7A):c.3271C>T (p.Gln1091Ter)
|
rs1955333327
|
|
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)
|
rs782468194
|
|
NM_000260.4(MYO7A):c.32G>A (p.Trp11Ter)
|
rs1307924861
|
|
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter)
|
rs1555085978
|
|
NM_000260.4(MYO7A):c.33G>A (p.Trp11Ter)
|
rs1555051419
|
|
NM_000260.4(MYO7A):c.3504-1G>A
|
|
|
NM_000260.4(MYO7A):c.3504-2A>G
|
rs1555090168
|
|
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly)
|
rs1555090196
|
|
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)
|
rs1555090294
|
|
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)
|
rs1253943370
|
|
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro)
|
rs1565430886
|
|
NM_000260.4(MYO7A):c.3612_3615del (p.Ser1205fs)
|
|
|
NM_000260.4(MYO7A):c.3631-1G>C
|
rs1555090885
|
|
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)
|
rs1057517857
|
|
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg)
|
rs750358148
|
|
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs)
|
rs397516304
|
|
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
|
rs111033347
|
|
NM_000260.4(MYO7A):c.3779T>A (p.Leu1260Ter)
|
|
|
NM_000260.4(MYO7A):c.3802_3805del (p.Thr1268fs)
|
rs1955999847
|
|
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs)
|
rs1555091636
|
|
NM_000260.4(MYO7A):c.3886del (p.Arg1296fs)
|
rs2135563245
|
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
|
NM_000260.4(MYO7A):c.3893G>A (p.Gly1298Glu)
|
|
|
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys)
|
rs373169422
|
|
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
NM_000260.4(MYO7A):c.3982C>T (p.Gln1328Ter)
|
rs1956130442
|
|
NM_000260.4(MYO7A):c.4018G>C (p.Ala1340Pro)
|
|
|
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs)
|
rs1555092993
|
|
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs)
|
rs1555093028
|
|
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs)
|
rs1480697910
|
|
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly)
|
rs869312181
|
|
NM_000260.4(MYO7A):c.4126A>T (p.Lys1376Ter)
|
rs1956149175
|
|
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His)
|
rs2135577456
|
|
NM_000260.4(MYO7A):c.4153G>T (p.Glu1385Ter)
|
rs1956480240
|
|
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)
|
rs1555095933
|
|
NM_000260.4(MYO7A):c.4219G>T (p.Glu1407Ter)
|
rs1956485578
|
|
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs)
|
rs1555096070
|
|
NM_000260.4(MYO7A):c.4321A>T (p.Lys1441Ter)
|
rs1956496669
|
|
NM_000260.4(MYO7A):c.4363A>T (p.Lys1455Ter)
|
|
|
NM_000260.4(MYO7A):c.4423G>T (p.Glu1475Ter)
|
rs1956761177
|
|
NM_000260.4(MYO7A):c.4432A>T (p.Lys1478Ter)
|
rs1956761416
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter)
|
rs1956843097
|
|
NM_000260.4(MYO7A):c.4528G>A (p.Glu1510Lys)
|
|
|
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs)
|
rs1555100200
|
|
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer)
|
rs1555100273
|
|
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs)
|
rs1555100315
|
|
NM_000260.4(MYO7A):c.471-1G>A
|
rs548172627
|
|
NM_000260.4(MYO7A):c.471-2A>C
|
|
|
NM_000260.4(MYO7A):c.4762G>T (p.Glu1588Ter)
|
rs1181067492
|
|
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter)
|
rs1052030
|
|
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter)
|
rs397516315
|
|
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs)
|
rs1555100603
|
|
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs)
|
rs1555100625
|
|
NM_000260.4(MYO7A):c.4852+2T>C
|
rs2135682219
|
|
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs)
|
rs1188637368
|
|
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs)
|
rs1555101858
|
|
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser)
|
rs1201586094
|
|
NM_000260.4(MYO7A):c.496del (p.Glu166fs)
|
rs111033448
|
|
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter)
|
rs1401619267
|
|
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs)
|
rs1591467918
|
|
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs)
|
rs1555102041
|
|
NM_000260.4(MYO7A):c.5043+1G>T
|
rs1555102147
|
|
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter)
|
rs530520654
|
|
NM_000260.4(MYO7A):c.5168+2T>C
|
rs1192104600
|
|
NM_000260.4(MYO7A):c.5179A>T (p.Lys1727Ter)
|
|
|
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter)
|
rs782347270
|
|
NM_000260.4(MYO7A):c.5209A>T (p.Lys1737Ter)
|
rs1591474980
|
|
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs)
|
rs1555103458
|
|
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs)
|
rs1555103532
|
|
NM_000260.4(MYO7A):c.5275A>T (p.Lys1759Ter)
|
|
|
NM_000260.4(MYO7A):c.5326+3A>G
|
rs1565469959
|
|
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)
|
rs751242455
|
|
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys)
|
rs377267777
|
|
NM_000260.4(MYO7A):c.5481-1G>C
|
rs1555105118
|
|
NM_000260.4(MYO7A):c.5488G>T (p.Glu1830Ter)
|
rs768418736
|
|
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs)
|
rs1555105135
|
|
NM_000260.4(MYO7A):c.548C>A (p.Ser183Ter)
|
|
|
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg)
|
rs746667217
|
|
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs)
|
rs1555105202
|
|
NM_000260.4(MYO7A):c.5552T>C (p.Leu1851Pro)
|
|
|
NM_000260.4(MYO7A):c.5610C>A (p.Cys1870Ter)
|
rs1957393464
|
|
NM_000260.4(MYO7A):c.5655C>A (p.Tyr1885Ter)
|
rs1957431273
|
|
NM_000260.4(MYO7A):c.5701C>T (p.Gln1901Ter)
|
rs1406392019
|
|
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs)
|
rs1555106609
|
|
NM_000260.4(MYO7A):c.5842A>T (p.Lys1948Ter)
|
rs1957520697
|
|
NM_000260.4(MYO7A):c.5856+5G>C
|
rs1386887007
|
|
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs)
|
rs1555107555
|
|
NM_000260.4(MYO7A):c.5967C>A (p.Tyr1989Ter)
|
rs1957642707
|
|
NM_000260.4(MYO7A):c.6013A>T (p.Lys2005Ter)
|
rs186644871
|
|
NM_000260.4(MYO7A):c.602del (p.Asn201fs)
|
|
|
NM_000260.4(MYO7A):c.6051+1G>A
|
rs1403288739
|
|
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
|
rs876657655
|
|
NM_000260.4(MYO7A):c.6071G>C (p.Arg2024Pro)
|
rs770778096
|
|
NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter)
|
rs1957842461
|
|
NM_000260.4(MYO7A):c.6184G>T (p.Glu2062Ter)
|
rs530700420
|
|
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)
|
rs1060499801
|
|
NM_000260.4(MYO7A):c.6231G>A (p.Trp2077Ter)
|
rs1957851234
|
|
NM_000260.4(MYO7A):c.6237+1G>A
|
rs1338605788
|
|
NM_000260.4(MYO7A):c.6238-1G>C
|
rs1957902751
|
|
NM_000260.4(MYO7A):c.6238-2A>C
|
rs1555109612
|
|
NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter)
|
rs1957904821
|
|
NM_000260.4(MYO7A):c.6252C>G (p.Tyr2084Ter)
|
rs1957904821
|
|
NM_000260.4(MYO7A):c.6355C>T (p.Gln2119Ter)
|
|
|
NM_000260.4(MYO7A):c.6403A>T (p.Lys2135Ter)
|
|
|
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg)
|
rs1223784415
|
|
NM_000260.4(MYO7A):c.6491del (p.Asn2164fs)
|
rs2135802675
|
|
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)
|
rs397516332
|
|
NM_000260.4(MYO7A):c.712G>T (p.Glu238Ter)
|
rs1952532000
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)
|
rs782252317
|
|
NM_000260.4(MYO7A):c.767A>G (p.Tyr256Cys)
|
rs2135244325
|
|
NM_000260.4(MYO7A):c.767del (p.Tyr256fs)
|
|
|
NM_000260.4(MYO7A):c.778G>T (p.Glu260Ter)
|
rs1555064033
|
|
NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter)
|
rs2135244869
|
|
NM_000260.4(MYO7A):c.802A>T (p.Lys268Ter)
|
|
|
NM_000260.4(MYO7A):c.83_84del (p.Val28fs)
|
|
|
NM_000260.4(MYO7A):c.842T>A (p.Leu281Ter)
|
rs1952585733
|
|
NM_000260.4(MYO7A):c.858C>A (p.Cys286Ter)
|
rs1952682554
|
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081
|
|
NM_000260.4(MYO7A):c.956C>A (p.Ser319Ter)
|
rs782747153
|
|
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
|
rs797044491
|
|
NM_000271.4(NPC1):c.[2213C>A];[3234_3237dupATTT]
|
|
|
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs)
|
rs1057516950
|
|
NM_000271.5(NPC1):c.1070C>A (p.Ser357Ter)
|
rs1555637232
|
|
NM_000271.5(NPC1):c.1092T>A (p.Cys364Ter)
|
rs2058953311
|
|
NM_000271.5(NPC1):c.1114_1115insT (p.Arg372fs)
|
rs2145457097
|
|
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs)
|
rs1555637164
|
|
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter)
|
rs794727897
|
|
NM_000271.5(NPC1):c.114_122del (p.Lys38_Tyr40del)
|
rs1599011473
|
|
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly)
|
rs1192824648
|
|
NM_000271.5(NPC1):c.1166G>T (p.Arg389Leu)
|
rs373751051
|
|
NM_000271.5(NPC1):c.1182C>A (p.Tyr394Ter)
|
|
|
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)
|
rs1298238512
|
|
NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)
|
|
|
NM_000271.5(NPC1):c.1293del (p.Phe431fs)
|
rs2145455429
|
|
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter)
|
rs750292546
|
|
NM_000271.5(NPC1):c.1327-1G>A
|
rs1057516813
|
|
NM_000271.5(NPC1):c.1327-1G>C
|
rs1057516813
|
|
NM_000271.5(NPC1):c.1327-2dup
|
rs1555636712
|
|
NM_000271.5(NPC1):c.1337T>A (p.Leu446Ter)
|
rs2058929021
|
|
NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)
|
|
|
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter)
|
rs1057517077
|
|
NM_000271.5(NPC1):c.1348dup (p.Ile450fs)
|
|
|
NM_000271.5(NPC1):c.1371T>A (p.Tyr457Ter)
|
|
|
NM_000271.5(NPC1):c.1420C>G (p.Pro474Ala)
|
|
|
NM_000271.5(NPC1):c.1433A>C (p.Asn478Thr)
|
rs2145447716
|
|
NM_000271.5(NPC1):c.1436G>C (p.Cys479Ser)
|
|
|
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter)
|
rs1555642296
|
|
NM_000271.5(NPC1):c.1454_1459del (p.Leu485_Asn486del)
|
|
|
NM_000271.5(NPC1):c.1510_1512del (p.Phe504del)
|
|
|
NM_000271.5(NPC1):c.1534C>T (p.His512Tyr)
|
|
|
NM_000271.5(NPC1):c.1550T>A (p.Val517Glu)
|
rs2145446753
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
NM_000271.5(NPC1):c.1554-1009G>A
|
rs1055204017
|
|
NM_000271.5(NPC1):c.1612G>C (p.Gly538Arg)
|
rs2145433298
|
|
NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)
|
|
|
NM_000271.5(NPC1):c.1627C>T (p.Pro543Ser)
|
rs2145433190
|
|
NM_000271.5(NPC1):c.1642G>T (p.Gly548Ter)
|
|
|
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)
|
rs201156397
|
|
NM_000271.5(NPC1):c.1711del (p.Tyr571fs)
|
rs1057517455
|
|
NM_000271.5(NPC1):c.1731_1737del (p.Gln578fs)
|
|
|
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
|
|
|
NM_000271.5(NPC1):c.1757+1G>A
|
|
|
NM_000271.5(NPC1):c.1758-3_1761del
|
|
|
NM_000271.5(NPC1):c.1761del (p.Phe587fs)
|
rs1057517197
|
|
NM_000271.5(NPC1):c.1780_1782del (p.Tyr594del)
|
|
|
NM_000271.5(NPC1):c.180+1G>C
|
rs2059231880
|
|
NM_000271.5(NPC1):c.180+1G>T
|
|
|
NM_000271.5(NPC1):c.1800del (p.Ile601fs)
|
rs483352879
|
|
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter)
|
rs2059213874
|
|
NM_000271.5(NPC1):c.1843C>A (p.Arg615Ser)
|
rs745777805
|
|
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
|
rs745777805
|
|
NM_000271.5(NPC1):c.1844G>A (p.Arg615His)
|
rs773351341
|
|
NM_000271.5(NPC1):c.187T>C (p.Cys63Arg)
|
|
|
NM_000271.5(NPC1):c.188G>A (p.Cys63Tyr)
|
rs2145544950
|
|
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
|
rs2058768195
|
|
NM_000271.5(NPC1):c.1920del (p.His641fs)
|
rs886042270
|
|
NM_000271.5(NPC1):c.1947+1G>A
|
rs1555634690
|
|
NM_000271.5(NPC1):c.1947+2T>A
|
rs764472245
|
|
NM_000271.5(NPC1):c.1947+2T>G
|
rs764472245
|
|
NM_000271.5(NPC1):c.1948-2A>T
|
rs1555634513
|
|
NM_000271.5(NPC1):c.1990G>C (p.Val664Leu)
|
rs376213990
|
|
NM_000271.5(NPC1):c.1996_1997del (p.Ser666fs)
|
|
|
NM_000271.5(NPC1):c.1A>G (p.Met1Val)
|
rs1057517005
|
|
NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)
|
|
|
NM_000271.5(NPC1):c.2035_2036delinsT (p.Gly679fs)
|
|
|
NM_000271.5(NPC1):c.2044_2045insGTCATACACATCTG (p.Leu682fs)
|
|
|
NM_000271.5(NPC1):c.2046_2047del (p.Leu682fs)
|
|
|
NM_000271.5(NPC1):c.2053A>C (p.Ile685Leu)
|
|
|
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln)
|
rs1555634422
|
|
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu)
|
rs1555634422
|
|
NM_000271.5(NPC1):c.2072dup (p.Phe692fs)
|
|
|
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
|
|
|
NM_000271.5(NPC1):c.2092G>T (p.Gly698Ter)
|
rs2058754064
|
|
NM_000271.5(NPC1):c.2108T>C (p.Phe703Ser)
|
rs2058753693
|
|
NM_000271.5(NPC1):c.2131-2_2131del
|
rs1555634236
|
|
NM_000271.5(NPC1):c.2134G>A (p.Asp712Asn)
|
|
|
NM_000271.5(NPC1):c.2134G>T (p.Asp712Tyr)
|
|
|
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_000271.5(NPC1):c.2174del (p.Gly725fs)
|
|
|
NM_000271.5(NPC1):c.2179del (p.Val727fs)
|
rs2145394955
|
|
NM_000271.5(NPC1):c.2200A>G (p.Ser734Gly)
|
rs2145394815
|
|
NM_000271.5(NPC1):c.2200A>T (p.Ser734Cys)
|
|
|
NM_000271.5(NPC1):c.2201G>C (p.Ser734Thr)
|
|
|
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs)
|
rs483352882
|
|
NM_000271.5(NPC1):c.2246-1G>A
|
|
|
NM_000271.5(NPC1):c.2290G>T (p.Ala764Ser)
|
|
|
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly)
|
rs1555633697
|
|
NM_000271.5(NPC1):c.2366G>A (p.Arg789His)
|
rs483352891
|
|
NM_000271.5(NPC1):c.2383_2384del (p.Leu795fs)
|
|
|
NM_000271.5(NPC1):c.2434del (p.Ala812fs)
|
|
|
NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs)
|
rs1555633637
|
|
NM_000271.5(NPC1):c.2489T>C (p.Leu830Pro)
|
|
|
NM_000271.5(NPC1):c.2514+1G>A
|
|
|
NM_000271.5(NPC1):c.2519C>A (p.Ala840Glu)
|
rs2145378239
|
|
NM_000271.5(NPC1):c.2522T>A (p.Ile841Lys)
|
|
|
NM_000271.5(NPC1):c.2525T>C (p.Phe842Ser)
|
|
|
NM_000271.5(NPC1):c.2531dup (p.Val845fs)
|
rs2145378067
|
|
NM_000271.5(NPC1):c.2567T>C (p.Val856Ala)
|
|
|
NM_000271.5(NPC1):c.2575G>T (p.Gly859Ter)
|
rs2058698654
|
|
NM_000271.5(NPC1):c.2579T>A (p.Leu860Ter)
|
rs2058698544
|
|
NM_000271.5(NPC1):c.2593T>A (p.Ser865Thr)
|
|
|
NM_000271.5(NPC1):c.2593T>C (p.Ser865Pro)
|
|
|
NM_000271.5(NPC1):c.2604+1G>A
|
rs1555633454
|
|
NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter)
|
rs1555633361
|
|
NM_000271.5(NPC1):c.2670C>A (p.Tyr890Ter)
|
rs780592540
|
|
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)
|
rs780592540
|
|
NM_000271.5(NPC1):c.2683dup (p.Glu895fs)
|
rs1555633326
|
|
NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)
|
|
|
NM_000271.5(NPC1):c.2712del (p.Gln905fs)
|
rs1555633309
|
|
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter)
|
rs917070773
|
|
NM_000271.5(NPC1):c.2742C>A (p.Cys914Ter)
|
rs2058687419
|
|
NM_000271.5(NPC1):c.2758G>A (p.Val920Met)
|
|
|
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)
|
rs786204512
|
|
NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter)
|
rs786204641
|
|
NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)
|
|
|
NM_000271.5(NPC1):c.2775del (p.Asn925fs)
|
rs1057516603
|
|
NM_000271.5(NPC1):c.2795+56C>T
|
rs2058685029
|
|
NM_000271.5(NPC1):c.2796-2A>T
|
|
|
NM_000271.5(NPC1):c.2818T>C (p.Ser940Pro)
|
|
|
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)
|
rs1261939149
|
|
NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)
|
|
|
NM_000271.5(NPC1):c.2871T>A (p.Cys957Ter)
|
|
|
NM_000271.5(NPC1):c.2882_2897delinsG (p.Asn961_Phe966delinsSer)
|
|
|
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter)
|
rs786204586
|
|
NM_000271.5(NPC1):c.2901C>A (p.Cys967Ter)
|
rs2058679233
|
|
NM_000271.5(NPC1):c.2907_2908dup (p.Ser970fs)
|
rs761910746
|
|
NM_000271.5(NPC1):c.2911+1del
|
rs1555633118
|
|
NM_000271.5(NPC1):c.2911+2del
|
rs2058678962
|
|
NM_000271.5(NPC1):c.2912-2A>C
|
rs1555632994
|
|
NM_000271.5(NPC1):c.2926T>C (p.Cys976Arg)
|
|
|
NM_000271.5(NPC1):c.2932C>A (p.Arg978Ser)
|
rs28942108
|
|
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs)
|
rs2145366898
|
|
NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs)
|
rs1555632977
|
|
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp)
|
rs1555632971
|
|
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)
|
rs80358254
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
|
|
|
NM_000271.5(NPC1):c.2978dup (p.Asp994fs)
|
rs775915490
|
|
NM_000271.5(NPC1):c.29_30insGTCTCTTATACACACTG (p.Leu11fs)
|
|
|
NM_000271.5(NPC1):c.3017del (p.Asn1006fs)
|
|
|
NM_000271.5(NPC1):c.3026_3027del (p.Pro1009fs)
|
|
|
NM_000271.5(NPC1):c.3035G>A (p.Gly1012Asp)
|
|
|
NM_000271.5(NPC1):c.3041+2del
|
rs2058665849
|
|
NM_000271.5(NPC1):c.3042-1G>A
|
rs771806960
|
|
NM_000271.5(NPC1):c.3042-2_3042-1del
|
|
|
NM_000271.5(NPC1):c.3042-2del
|
rs797044431
|
|
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg)
|
rs2058637844
|
|
NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)
|
|
|
NM_000271.5(NPC1):c.3106A>T (p.Thr1036Ser)
|
|
|
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)
|
rs893564568
|
|
NM_000271.5(NPC1):c.3136C>T (p.Gln1046Ter)
|
rs1446718670
|
|
NM_000271.5(NPC1):c.3141_3147delinsAG (p.Ser1048fs)
|
|
|
NM_000271.5(NPC1):c.3154_3156del (p.Ile1052del)
|
|
|
NM_000271.5(NPC1):c.315_317delinsT (p.Asn106fs)
|
|
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
|
NM_000271.5(NPC1):c.3182_3183del (p.Ile1061fs)
|
|
|
NM_000271.5(NPC1):c.3185C>T (p.Ala1062Val)
|
|
|
NM_000271.5(NPC1):c.3232del (p.Val1078fs)
|
|
|
NM_000271.5(NPC1):c.3243_3755-94del
|
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
NM_000271.5(NPC1):c.3246T>A (p.Ser1082Arg)
|
|
|
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter)
|
rs774602107
|
|
NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)
|
|
|
NM_000271.5(NPC1):c.3266A>G (p.Glu1089Gly)
|
|
|
NM_000271.5(NPC1):c.3273C>G (p.Tyr1091Ter)
|
rs1598937493
|
|
NM_000271.5(NPC1):c.3276_3277del (p.Thr1093fs)
|
|
|
NM_000271.5(NPC1):c.3279CAT[1] (p.Ile1095del)
|
|
|
NM_000271.5(NPC1):c.327T>A (p.Cys109Ter)
|
rs2059164764
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
|
NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)
|
|
|
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs)
|
rs2145351244
|
|
NM_000271.5(NPC1):c.3325del (p.Ile1109fs)
|
rs1057517149
|
|
NM_000271.5(NPC1):c.3359_3360insAC (p.Leu1121fs)
|
|
|
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg)
|
rs120074136
|
|
NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)
|
|
|
NM_000271.5(NPC1):c.339T>A (p.Cys113Ter)
|
rs2059164609
|
|
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs)
|
rs768299417
|
|
NM_000271.5(NPC1):c.3417_3423del (p.Phe1139fs)
|
rs1057516647
|
|
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)
|
rs778878523
|
|
NM_000271.5(NPC1):c.3433T>C (p.Trp1145Arg)
|
rs2145350224
|
|
NM_000271.5(NPC1):c.3435G>C (p.Trp1145Cys)
|
|
|
NM_000271.5(NPC1):c.3451G>T (p.Ala1151Ser)
|
|
|
NM_000271.5(NPC1):c.3461T>A (p.Leu1154Ter)
|
rs1555632182
|
|
NM_000271.5(NPC1):c.3467A>C (p.Asn1156Thr)
|
|
|
NM_000271.5(NPC1):c.3470_3473delinsAA (p.Leu1157fs)
|
|
|
NM_000271.5(NPC1):c.3478-1G>C
|
|
|
NM_000271.5(NPC1):c.3485G>C (p.Gly1162Ala)
|
rs1194990534
|
|
NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)
|
|
|
NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu)
|
rs748862167
|
|
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
|
|
|
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)
|
rs1555632003
|
|
NM_000271.5(NPC1):c.3502T>G (p.Cys1168Gly)
|
|
|
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)
|
rs1555631998
|
|
NM_000271.5(NPC1):c.3507C>G (p.Ser1169Arg)
|
rs2058596611
|
|
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg)
|
rs1567977251
|
|
NM_000271.5(NPC1):c.3535_3538delinsTTT (p.Met1179fs)
|
rs1555631957
|
|
NM_000271.5(NPC1):c.3553G>T (p.Glu1185Ter)
|
|
|
NM_000271.5(NPC1):c.3557G>T (p.Arg1186Leu)
|
|
|
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly)
|
rs113371321
|
|
NM_000271.5(NPC1):c.3571C>G (p.Leu1191Val)
|
|
|
NM_000271.5(NPC1):c.3572T>C (p.Leu1191Pro)
|
|
|
NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe)
|
rs1234099104
|
|
NM_000271.5(NPC1):c.3591+121C>T
|
|
|
NM_000271.5(NPC1):c.3591+2T>C
|
rs1555631888
|
|
NM_000271.5(NPC1):c.3591+2dup
|
rs2145342749
|
|
NM_000271.5(NPC1):c.3592-1G>C
|
rs1555631653
|
|
NM_000271.5(NPC1):c.3612_3613delinsG (p.Thr1205fs)
|
rs1555631642
|
|
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg)
|
rs758902805
|
|
NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)
|
|
|
NM_000271.5(NPC1):c.3634G>A (p.Val1212Met)
|
|
|
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
|
|
|
NM_000271.5(NPC1):c.3647C>T (p.Ala1216Val)
|
|
|
NM_000271.5(NPC1):c.3666_3672del (p.Gln1222fs)
|
rs1555631610
|
|
NM_000271.5(NPC1):c.3718G>A (p.Gly1240Arg)
|
|
|
NM_000271.5(NPC1):c.3731T>C (p.Leu1244Pro)
|
|
|
NM_000271.5(NPC1):c.3732_3735del (p.Pro1245fs)
|
|
|
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)
|
rs1064794009
|
|
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)
|
rs774943545
|
|
NM_000271.5(NPC1):c.3754+1G>A
|
rs1555631571
|
|
NM_000271.5(NPC1):c.3754+1G>C
|
rs1555631571
|
|
NM_000271.5(NPC1):c.3754+1G>T
|
rs1555631571
|
|
NM_000271.5(NPC1):c.3754+3A>C
|
rs1208252513
|
|
NM_000271.5(NPC1):c.378del (p.Glu127fs)
|
|
|
NM_000271.5(NPC1):c.392dup (p.Asp131fs)
|
|
|
NM_000271.5(NPC1):c.395del (p.Pro132fs)
|
rs1057516462
|
|
NM_000271.5(NPC1):c.397del (p.Val133fs)
|
rs1057517186
|
|
NM_000271.5(NPC1):c.3G>A (p.Met1Ile)
|
rs1555645630
|
|
NM_000271.5(NPC1):c.414_435dup (p.Tyr146fs)
|
rs1555641027
|
|
NM_000271.5(NPC1):c.425_428del (p.Lys142fs)
|
rs770580241
|
|
NM_000271.5(NPC1):c.433C>T (p.Gln145Ter)
|
rs1057516749
|
|
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)
|
rs749012588
|
|
NM_000271.5(NPC1):c.463+1G>A
|
|
|
NM_000271.5(NPC1):c.463+2T>G
|
rs2145526252
|
|
NM_000271.5(NPC1):c.464-2A>C
|
rs2145485704
|
|
NM_000271.5(NPC1):c.473dup (p.Asn158fs)
|
|
|
NM_000271.5(NPC1):c.497C>A (p.Pro166His)
|
|
|
NM_000271.5(NPC1):c.500C>G (p.Ser167Ter)
|
rs752409181
|
|
NM_000271.5(NPC1):c.500C>T (p.Ser167Leu)
|
|
|
NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)
|
|
|
NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)
|
|
|
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)
|
rs111256741
|
|
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
|
|
|
NM_000271.5(NPC1):c.57+4A>G
|
rs1057519229
|
|
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
|
|
|
NM_000271.5(NPC1):c.58-2A>T
|
rs1555642347
|
|
NM_000271.5(NPC1):c.586A>T (p.Lys196Ter)
|
rs754653682
|
|
NM_000271.5(NPC1):c.608_609del (p.Phe203fs)
|
|
|
NM_000271.5(NPC1):c.629del (p.Phe209_Ser210insTer)
|
rs1057516260
|
|
NM_000271.5(NPC1):c.631+1G>T
|
|
|
NM_000271.5(NPC1):c.681T>A (p.Cys227Ter)
|
rs2059021939
|
|
NM_000271.5(NPC1):c.718_719del (p.Cys240fs)
|
|
|
NM_000271.5(NPC1):c.747del (p.Lys250fs)
|
|
|
NM_000271.5(NPC1):c.75T>A (p.Cys25Ter)
|
|
|
NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)
|
|
|
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del)
|
rs1243863645
|
|
NM_000271.5(NPC1):c.839del (p.Leu280fs)
|
rs1057518711
|
|
NM_000271.5(NPC1):c.852dup (p.Gly285fs)
|
rs762124334
|
|
NM_000271.5(NPC1):c.872G>A (p.Trp291Ter)
|
rs2059018297
|
|
NM_000271.5(NPC1):c.881+1G>A
|
|
|
NM_000271.5(NPC1):c.88G>T (p.Glu30Ter)
|
rs2059233326
|
|
NM_000271.5(NPC1):c.901G>T (p.Glu301Ter)
|
rs150154006
|
|
NM_000271.5(NPC1):c.906C>A (p.Tyr302Ter)
|
|
|
NM_000271.5(NPC1):c.943del (p.Ala315fs)
|
|
|
NM_000271.5(NPC1):c.955+1G>A
|
|
|
NM_000271.5(NPC1):c.956-1G>T
|
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|
NM_000271.5(NPC1):c.99_100del (p.Ala34fs)
|
rs2059233076
|
|
NM_000271.5(NPC1):c.[2727C>T;2793C>T]
|
|
|
NM_000272.4:c.(1520+1_1521-1)_(1697+1_1698-1)del
|
|
|
NM_000277.1:c.[722delG;c.735G>A]
|
|
|
NM_000277.2(PAH):c.1200-1delG
|
rs63186960
|
|
NM_000277.2(PAH):c.169_171delGAG
|
rs199475665
|
|
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer)
|
rs281865431
|
|
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)
|
|
|
NM_000277.3(PAH):c.1004A>C (p.Lys335Thr)
|
rs281865434
|
|
NM_000277.3(PAH):c.1013A>C (p.Asp338Ala)
|
rs1169310686
|
|
NM_000277.3(PAH):c.1016C>T (p.Ser339Phe)
|
|
|
NM_000277.3(PAH):c.1023G>C (p.Lys341Asn)
|
|
|
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr)
|
rs62507282
|
|
NM_000277.3(PAH):c.1025C>A (p.Ala342Glu)
|
rs796064501
|
|
NM_000277.3(PAH):c.1027T>A (p.Tyr343Asn)
|
rs62508651
|
|
NM_000277.3(PAH):c.1027T>G (p.Tyr343Asp)
|
rs62508651
|
|
NM_000277.3(PAH):c.1030G>A (p.Gly344Ser)
|
rs62508679
|
|
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.1043T>C (p.Leu348Pro)
|
rs1874733519
|
|
NM_000277.3(PAH):c.1044_1047dup (p.Ser350fs)
|
rs62516157
|
|
NM_000277.3(PAH):c.1046C>A (p.Ser349Ter)
|
rs62507279
|
|
NM_000277.3(PAH):c.1048T>A (p.Ser350Thr)
|
rs62517183
|
|
NM_000277.3(PAH):c.1049C>G (p.Ser350Cys)
|
|
|
NM_000277.3(PAH):c.1054G>C (p.Gly352Arg)
|
rs62508686
|
|
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)
|
rs62508686
|
|
NM_000277.3(PAH):c.1057del (p.Glu353fs)
|
rs2136636774
|
|
NM_000277.3(PAH):c.1065+1G>A
|
rs62516147
|
|
NM_000277.3(PAH):c.1065+1G>T
|
rs62516147
|
|
NM_000277.3(PAH):c.1065+241C>A
|
rs2136636327
|
|
NM_000277.3(PAH):c.1065+3A>G
|
rs62508689
|
|
NM_000277.3(PAH):c.1066-10_1070del
|
rs1592947582
|
|
NM_000277.3(PAH):c.1066-13T>G
|
rs1435691439
|
|
NM_000277.3(PAH):c.1066-14C>G
|
rs62507334
|
|
NM_000277.3(PAH):c.1066-2A>T
|
rs281865447
|
|
NM_000277.3(PAH):c.1066-7C>A
|
rs1242756437
|
|
NM_000277.3(PAH):c.1069T>G (p.Cys357Gly)
|
rs62508595
|
|
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)
|
rs376480977
|
|
NM_000277.3(PAH):c.1076C>T (p.Ser359Leu)
|
rs5030854
|
|
NM_000277.3(PAH):c.1081A>C (p.Lys361Gln)
|
rs772918939
|
|
NM_000277.3(PAH):c.1081A>T (p.Lys361Ter)
|
|
|
NM_000277.3(PAH):c.1084C>T (p.Pro362Ser)
|
|
|
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg)
|
rs1592947563
|
|
NM_000277.3(PAH):c.1087A>T (p.Lys363Ter)
|
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
NM_000277.3(PAH):c.1092_1094del (p.Leu365del)
|
rs62516096
|
|
NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del)
|
rs62516097
|
|
NM_000277.3(PAH):c.1096C>T (p.Pro366Ser)
|
rs2136635839
|
|
NM_000277.3(PAH):c.1097C>A (p.Pro366His)
|
rs62516098
|
|
NM_000277.3(PAH):c.1099del (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys)
|
rs1488232864
|
|
NM_000277.3(PAH):c.1105C>G (p.Leu369Val)
|
rs2136635779
|
|
NM_000277.3(PAH):c.1108del (p.Glu370fs)
|
|
|
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)
|
rs1592947508
|
|
NM_000277.3(PAH):c.110T>C (p.Leu37Pro)
|
rs869312996
|
|
NM_000277.3(PAH):c.1111A>T (p.Lys371Ter)
|
|
|
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)
|
rs62517163
|
|
NM_000277.3(PAH):c.1115C>G (p.Thr372Arg)
|
rs2136635740
|
|
NM_000277.3(PAH):c.1117G>A (p.Ala373Thr)
|
rs62508717
|
|
NM_000277.3(PAH):c.1118C>A (p.Ala373Asp)
|
rs1874694965
|
|
NM_000277.3(PAH):c.1129T>G (p.Tyr377Asp)
|
rs1874693635
|
|
NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys)
|
rs62642942
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)
|
rs1555203681
|
|
NM_000277.3(PAH):c.1146C>G (p.Phe382Leu)
|
rs1874691554
|
|
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter)
|
rs1037293795
|
|
NM_000277.3(PAH):c.1154T>C (p.Leu385Pro)
|
|
|
NM_000277.3(PAH):c.1155_1156delinsGC (p.Tyr386His)
|
rs2136635586
|
|
NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp)
|
rs199475691
|
|
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)
|
rs62517194
|
|
NM_000277.3(PAH):c.1159T>G (p.Tyr387Asp)
|
rs62517194
|
|
NM_000277.3(PAH):c.1163T>C (p.Val388Ala)
|
rs281865435
|
|
NM_000277.3(PAH):c.1166del (p.Ala389fs)
|
rs62506949
|
|
NM_000277.3(PAH):c.1171A>G (p.Ser391Gly)
|
rs281865453
|
|
NM_000277.3(PAH):c.1171_1172del (p.Ser391fs)
|
rs1429055740
|
|
NM_000277.3(PAH):c.1172G>C (p.Ser391Thr)
|
rs869312997
|
|
NM_000277.3(PAH):c.1177_1178insT (p.Asn393fs)
|
|
|
NM_000277.3(PAH):c.1180G>C (p.Asp394His)
|
rs62516142
|
|
NM_000277.3(PAH):c.1180G>T (p.Asp394Tyr)
|
rs62516142
|
|
NM_000277.3(PAH):c.1180del (p.Asp394fs)
|
rs1555203666
|
|
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala)
|
rs62516102
|
|
NM_000277.3(PAH):c.1184C>A (p.Ala395Asp)
|
rs62508736
|
|
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)
|
rs776178623
|
|
NM_000277.3(PAH):c.1194A>G (p.Lys398=)
|
rs199475638
|
|
NM_000277.3(PAH):c.1196T>C (p.Val399Ala)
|
rs281865436
|
|
NM_000277.3(PAH):c.1196_1199del (p.Val399fs)
|
rs199475603
|
|
NM_000277.3(PAH):c.1199+1G>A
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+2T>G
|
rs62508737
|
|
NM_000277.3(PAH):c.1199+4A>G
|
rs1471682834
|
|
NM_000277.3(PAH):c.1199+5G>T
|
rs62508674
|
|
NM_000277.3(PAH):c.1200-3T>G
|
rs1874550090
|
|
NM_000277.3(PAH):c.1200-8G>A
|
rs62507261
|
|
NM_000277.3(PAH):c.1209del (p.Ala404fs)
|
rs1555203401
|
|
NM_000277.3(PAH):c.120_121del (p.Leu41fs)
|
|
|
NM_000277.3(PAH):c.1217T>C (p.Ile406Thr)
|
rs62644469
|
|
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser)
|
rs62644465
|
|
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu)
|
rs62644473
|
|
NM_000277.3(PAH):c.1228T>A (p.Phe410Ile)
|
rs1874543567
|
|
NM_000277.3(PAH):c.1229T>G (p.Phe410Cys)
|
rs62644475
|
|
NM_000277.3(PAH):c.1232C>A (p.Ser411Ter)
|
rs62644477
|
|
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)
|
rs281865437
|
|
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)
|
rs1445893088
|
|
NM_000277.3(PAH):c.1249T>G (p.Tyr417Asp)
|
rs62644471
|
|
NM_000277.3(PAH):c.124_126del (p.Lys42del)
|
rs1555209578
|
|
NM_000277.3(PAH):c.1250A>G (p.Tyr417Cys)
|
rs1371700813
|
|
NM_000277.3(PAH):c.1253C>T (p.Thr418Ile)
|
rs1874539947
|
|
NM_000277.3(PAH):c.1259G>C (p.Arg420Thr)
|
rs767075719
|
|
NM_000277.3(PAH):c.125A>T (p.Lys42Ile)
|
rs62635346
|
|
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)
|
rs199475628
|
|
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)
|
rs199475696
|
|
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)
|
rs199475696
|
|
NM_000277.3(PAH):c.127G>T (p.Glu43Ter)
|
rs1555209575
|
|
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)
|
rs567261857
|
|
NM_000277.3(PAH):c.1282del (p.Gln428fs)
|
rs2136631967
|
|
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)
|
rs764974157
|
|
NM_000277.3(PAH):c.1289T>C (p.Leu430Pro)
|
rs199475607
|
|
NM_000277.3(PAH):c.1293_1294del (p.Lys431fs)
|
rs1555203363
|
|
NM_000277.3(PAH):c.1298dup (p.Leu433fs)
|
rs1057516377
|
|
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)
|
rs199475659
|
|
NM_000277.3(PAH):c.1301C>T (p.Ala434Val)
|
rs199475659
|
|
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)
|
rs1592945394
|
|
NM_000277.3(PAH):c.1306del (p.Ser436fs)
|
rs1874535712
|
|
NM_000277.3(PAH):c.1314_1315+4del
|
rs1334974448
|
|
NM_000277.3(PAH):c.1315+1G>T
|
rs5030861
|
|
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.1316-1G>C
|
|
|
NM_000277.3(PAH):c.1318G>T (p.Glu440Ter)
|
rs1874485021
|
|
NM_000277.3(PAH):c.1334del (p.Cys445fs)
|
|
|
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)
|
rs199475641
|
|
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)
|
rs794727086
|
|
NM_000277.3(PAH):c.136G>C (p.Gly46Arg)
|
rs74603784
|
|
NM_000277.3(PAH):c.148A>T (p.Lys50Ter)
|
|
|
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)
|
rs199475630
|
|
NM_000277.3(PAH):c.157C>A (p.Arg53Ser)
|
rs199475619
|
|
NM_000277.3(PAH):c.163_165del (p.Phe55del)
|
rs199475631
|
|
NM_000277.3(PAH):c.164T>C (p.Phe55Ser)
|
rs281865438
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
NM_000277.3(PAH):c.168+1G>T
|
rs62514898
|
|
NM_000277.3(PAH):c.168+5G>A
|
rs62507288
|
|
NM_000277.3(PAH):c.168_168+1delinsAA
|
rs786204457
|
|
NM_000277.3(PAH):c.169G>T (p.Glu57Ter)
|
rs140945592
|
|
NM_000277.3(PAH):c.182A>G (p.Asn61Ser)
|
rs2136702181
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
NM_000277.3(PAH):c.185T>C (p.Leu62Pro)
|
rs1877437661
|
|
NM_000277.3(PAH):c.194T>A (p.Ile65Asn)
|
rs75193786
|
|
NM_000277.3(PAH):c.196G>A (p.Glu66Lys)
|
rs281865454
|
|
NM_000277.3(PAH):c.196G>T (p.Glu66Ter)
|
rs281865454
|
|
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)
|
rs5030842
|
|
NM_000277.3(PAH):c.200C>A (p.Ser67Tyr)
|
|
|
NM_000277.3(PAH):c.205C>T (p.Pro69Ser)
|
rs199475678
|
|
NM_000277.3(PAH):c.208T>C (p.Ser70Pro)
|
rs63048261
|
|
NM_000277.3(PAH):c.209C>T (p.Ser70Phe)
|
rs1877434368
|
|
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)
|
|
|
NM_000277.3(PAH):c.212G>C (p.Arg71Pro)
|
rs62508695
|
|
NM_000277.3(PAH):c.223G>C (p.Asp75His)
|
rs767453024
|
|
NM_000277.3(PAH):c.224A>G (p.Asp75Gly)
|
rs1565866547
|
|
NM_000277.3(PAH):c.224A>T (p.Asp75Val)
|
rs1565866547
|
|
NM_000277.3(PAH):c.226G>T (p.Glu76Ter)
|
rs762949770
|
|
NM_000277.3(PAH):c.227A>G (p.Glu76Gly)
|
rs62507347
|
|
NM_000277.3(PAH):c.232G>A (p.Glu78Lys)
|
rs62507326
|
|
NM_000277.3(PAH):c.242C>A (p.Thr81Asn)
|
rs796064502
|
|
NM_000277.3(PAH):c.256del (p.Arg86fs)
|
|
|
NM_000277.3(PAH):c.265C>A (p.Pro89Thr)
|
|
|
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
|
rs62508727
|
|
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr)
|
rs281865432
|
|
NM_000277.3(PAH):c.292T>G (p.Leu98Val)
|
rs1592978725
|
|
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)
|
rs62517167
|
|
NM_000277.3(PAH):c.301G>A (p.Asp101Asn)
|
rs1555207979
|
|
NM_000277.3(PAH):c.305T>C (p.Ile102Thr)
|
rs62508591
|
|
NM_000277.3(PAH):c.311C>T (p.Ala104Val)
|
|
|
NM_000277.3(PAH):c.320A>C (p.His107Pro)
|
rs542645236
|
|
NM_000277.3(PAH):c.329C>T (p.Ser110Leu)
|
rs199475627
|
|
NM_000277.3(PAH):c.329del (p.Ser110fs)
|
rs1057516389
|
|
NM_000277.3(PAH):c.337A>T (p.Lys113Ter)
|
|
|
NM_000277.3(PAH):c.350_351del (p.Thr117fs)
|
|
|
NM_000277.3(PAH):c.350del (p.Thr117fs)
|
rs281865428
|
|
NM_000277.3(PAH):c.352+1G>A
|
rs199475684
|
|
NM_000277.3(PAH):c.352+2dup
|
rs1057516604
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.357del (p.Trp120fs)
|
rs794727619
|
|
NM_000277.3(PAH):c.364C>T (p.Pro122Ser)
|
rs1466564208
|
|
NM_000277.3(PAH):c.365_366delinsT (p.Pro122fs)
|
|
|
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)
|
rs199475606
|
|
NM_000277.3(PAH):c.3G>C (p.Met1Ile)
|
rs62514893
|
|
NM_000277.3(PAH):c.400C>T (p.Gln134Ter)
|
rs199475680
|
|
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)
|
rs199475624
|
|
NM_000277.3(PAH):c.440C>T (p.Pro147Leu)
|
rs199475694
|
|
NM_000277.3(PAH):c.440del (p.Pro147fs)
|
|
|
NM_000277.3(PAH):c.441+1G>C
|
rs62517166
|
|
NM_000277.3(PAH):c.441+3G>C
|
rs62508642
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.441+6T>C
|
rs199475698
|
|
NM_000277.3(PAH):c.442-2A>C
|
rs281865448
|
|
NM_000277.3(PAH):c.443G>A (p.Gly148Asp)
|
rs1555205655
|
|
NM_000277.3(PAH):c.443G>T (p.Gly148Val)
|
rs1555205655
|
|
NM_000277.3(PAH):c.460T>C (p.Tyr154His)
|
rs199475587
|
|
NM_000277.3(PAH):c.461A>G (p.Tyr154Cys)
|
rs1565853526
|
|
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe)
|
rs1565853526
|
|
NM_000277.3(PAH):c.462C>A (p.Tyr154Ter)
|
rs1191473722
|
|
NM_000277.3(PAH):c.464G>C (p.Arg155Pro)
|
rs199475663
|
|
NM_000277.3(PAH):c.467C>G (p.Ala156Gly)
|
rs570748767
|
|
NM_000277.3(PAH):c.467C>T (p.Ala156Val)
|
rs570748767
|
|
NM_000277.3(PAH):c.467del (p.Ala156fs)
|
|
|
NM_000277.3(PAH):c.470G>T (p.Arg157Ile)
|
rs199475611
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.482T>C (p.Phe161Ser)
|
rs79635844
|
|
NM_000277.3(PAH):c.493G>C (p.Ala165Pro)
|
rs199475626
|
|
NM_000277.3(PAH):c.494C>A (p.Ala165Asp)
|
rs1592961381
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter)
|
rs281865455
|
|
NM_000277.3(PAH):c.506G>C (p.Arg169Pro)
|
rs199475679
|
|
NM_000277.3(PAH):c.510-2A>G
|
rs1555204750
|
|
NM_000277.3(PAH):c.510-5T>A
|
rs1875378128
|
|
NM_000277.3(PAH):c.510T>A (p.His170Gln)
|
rs199475652
|
|
NM_000277.3(PAH):c.512G>C (p.Gly171Ala)
|
rs199475596
|
|
NM_000277.3(PAH):c.515A>G (p.Gln172Arg)
|
|
|
NM_000277.3(PAH):c.516G>C (p.Gln172His)
|
rs192592111
|
|
NM_000277.3(PAH):c.523C>T (p.Pro175Ser)
|
rs199475604
|
|
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)
|
rs74486803
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
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.535T>C (p.Tyr179His)
|
rs199475671
|
|
NM_000277.3(PAH):c.535_536del (p.Tyr179fs)
|
|
|
NM_000277.3(PAH):c.540GGA[1] (p.Glu183del)
|
rs1875372846
|
|
NM_000277.3(PAH):c.547_548delinsTT (p.Glu183Leu)
|
rs281865433
|
|
NM_000277.3(PAH):c.556del (p.Thr186fs)
|
rs62507328
|
|
NM_000277.3(PAH):c.561G>C (p.Trp187Cys)
|
rs62507336
|
|
NM_000277.3(PAH):c.562G>A (p.Gly188Ser)
|
rs2136649680
|
|
NM_000277.3(PAH):c.563G>A (p.Gly188Asp)
|
rs199475689
|
|
NM_000277.3(PAH):c.563G>T (p.Gly188Val)
|
rs199475689
|
|
NM_000277.3(PAH):c.568G>A (p.Val190Met)
|
rs281865441
|
|
NM_000277.3(PAH):c.580_581del (p.Leu194fs)
|
rs62508587
|
|
NM_000277.3(PAH):c.58C>T (p.Gln20Ter)
|
rs199475585
|
|
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.60+1G>C
|
rs1555209932
|
|
NM_000277.3(PAH):c.60+4A>T
|
rs1592991145
|
|
NM_000277.3(PAH):c.60+5G>A
|
rs62514895
|
|
NM_000277.3(PAH):c.601C>T (p.His201Tyr)
|
rs62517205
|
|
NM_000277.3(PAH):c.602A>G (p.His201Arg)
|
rs62517180
|
|
NM_000277.3(PAH):c.603T>G (p.His201Gln)
|
rs751977644
|
|
NM_000277.3(PAH):c.604G>A (p.Ala202Thr)
|
|
|
NM_000277.3(PAH):c.605C>T (p.Ala202Val)
|
rs2136649533
|
|
NM_000277.3(PAH):c.608G>A (p.Cys203Tyr)
|
rs62507271
|
|
NM_000277.3(PAH):c.609C>G (p.Cys203Trp)
|
rs1801147
|
|
NM_000277.3(PAH):c.610dup (p.Tyr204fs)
|
rs1555204711
|
|
NM_000277.3(PAH):c.613G>A (p.Glu205Lys)
|
rs63083560
|
|
NM_000277.3(PAH):c.614A>G (p.Glu205Gly)
|
rs62508593
|
|
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys)
|
rs62508728
|
|
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter)
|
rs62517201
|
|
NM_000277.3(PAH):c.618_625del (p.Asn207fs)
|
|
|
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)
|
rs62508721
|
|
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)
|
rs281865443
|
|
NM_000277.3(PAH):c.635T>C (p.Leu212Pro)
|
rs62517198
|
|
NM_000277.3(PAH):c.637C>T (p.Leu213Phe)
|
rs1131691945
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
|
NM_000277.3(PAH):c.640G>T (p.Glu214Ter)
|
|
|
NM_000277.3(PAH):c.641A>G (p.Glu214Gly)
|
|
|
NM_000277.3(PAH):c.649T>C (p.Cys217Arg)
|
rs62508718
|
|
NM_000277.3(PAH):c.649T>G (p.Cys217Gly)
|
rs62508718
|
|
NM_000277.3(PAH):c.650G>T (p.Cys217Phe)
|
|
|
NM_000277.3(PAH):c.659A>C (p.His220Pro)
|
rs1592954413
|
|
NM_000277.3(PAH):c.662A>G (p.Glu221Gly)
|
rs62514934
|
|
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)
|
rs62514936
|
|
NM_000277.3(PAH):c.665A>T (p.Asp222Val)
|
rs62507319
|
|
NM_000277.3(PAH):c.666T>G (p.Asp222Glu)
|
rs1263259211
|
|
NM_000277.3(PAH):c.668A>T (p.Asn223Ile)
|
rs201245932
|
|
NM_000277.3(PAH):c.670A>C (p.Ile224Leu)
|
|
|
NM_000277.3(PAH):c.670A>G (p.Ile224Val)
|
|
|
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)
|
rs62507323
|
|
NM_000277.3(PAH):c.673C>G (p.Pro225Ala)
|
rs199475589
|
|
NM_000277.3(PAH):c.674C>T (p.Pro225Leu)
|
rs62517204
|
|
NM_000277.3(PAH):c.676C>A (p.Gln226Lys)
|
rs62508696
|
|
NM_000277.3(PAH):c.676C>T (p.Gln226Ter)
|
rs62508696
|
|
NM_000277.3(PAH):c.676del (p.Gln226fs)
|
|
|
NM_000277.3(PAH):c.679C>G (p.Leu227Val)
|
rs2136649242
|
|
NM_000277.3(PAH):c.680T>A (p.Leu227Gln)
|
rs2136649239
|
|
NM_000277.3(PAH):c.682G>A (p.Glu228Lys)
|
rs281865444
|
|
NM_000277.3(PAH):c.689T>C (p.Val230Ala)
|
rs199475673
|
|
NM_000277.3(PAH):c.693_694del (p.Gln232fs)
|
|
|
NM_000277.3(PAH):c.693del (p.Gln232fs)
|
|
|
NM_000277.3(PAH):c.694C>G (p.Gln232Glu)
|
rs62507348
|
|
NM_000277.3(PAH):c.706+368T>C
|
rs2136648640
|
|
NM_000277.3(PAH):c.706+531T>C
|
|
|
NM_000277.3(PAH):c.706+608A>C
|
|
|
NM_000277.3(PAH):c.707-12_711del
|
rs1555204492
|
|
NM_000277.3(PAH):c.712A>G (p.Thr238Ala)
|
rs199475577
|
|
NM_000277.3(PAH):c.716G>C (p.Gly239Ala)
|
rs62507283
|
|
NM_000277.3(PAH):c.719T>C (p.Phe240Ser)
|
rs62508594
|
|
NM_000277.3(PAH):c.721C>A (p.Arg241Ser)
|
rs76687508
|
|
NM_000277.3(PAH):c.722G>T (p.Arg241Leu)
|
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.728G>T (p.Arg243Leu)
|
rs62508588
|
|
NM_000277.3(PAH):c.72T>A (p.Tyr24Ter)
|
|
|
NM_000277.3(PAH):c.730C>T (p.Pro244Ser)
|
rs2136646392
|
|
NM_000277.3(PAH):c.731C>T (p.Pro244Leu)
|
rs118203923
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
NM_000277.3(PAH):c.739G>A (p.Gly247Ser)
|
rs62508731
|
|
NM_000277.3(PAH):c.739G>C (p.Gly247Arg)
|
rs62508731
|
|
NM_000277.3(PAH):c.740G>A (p.Gly247Asp)
|
rs199475579
|
|
NM_000277.3(PAH):c.740G>T (p.Gly247Val)
|
rs199475579
|
|
NM_000277.3(PAH):c.745del (p.Leu249fs)
|
rs1057516914
|
|
NM_000277.3(PAH):c.746T>A (p.Leu249His)
|
rs62507338
|
|
NM_000277.3(PAH):c.754C>G (p.Arg252Gly)
|
rs5030847
|
|
NM_000277.3(PAH):c.755G>C (p.Arg252Pro)
|
rs62644503
|
|
NM_000277.3(PAH):c.764T>C (p.Leu255Ser)
|
rs62642930
|
|
NM_000277.3(PAH):c.770G>T (p.Gly257Val)
|
rs62642908
|
|
NM_000277.3(PAH):c.773T>C (p.Leu258Pro)
|
rs1565846899
|
|
NM_000277.3(PAH):c.775G>A (p.Ala259Thr)
|
rs62642932
|
|
NM_000277.3(PAH):c.780C>G (p.Phe260Leu)
|
|
|
NM_000277.3(PAH):c.781C>G (p.Arg261Gly)
|
rs5030850
|
|
NM_000277.3(PAH):c.782G>C (p.Arg261Pro)
|
rs5030849
|
|
NM_000277.3(PAH):c.785T>G (p.Val262Gly)
|
rs281865445
|
|
NM_000277.3(PAH):c.789C>A (p.Phe263Leu)
|
rs62642944
|
|
NM_000277.3(PAH):c.790del (p.His264fs)
|
rs1057517009
|
|
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr)
|
rs62507335
|
|
NM_000277.3(PAH):c.796A>C (p.Thr266Pro)
|
rs62508752
|
|
NM_000277.3(PAH):c.797C>T (p.Thr266Ile)
|
|
|
NM_000277.3(PAH):c.800A>T (p.Gln267Leu)
|
rs778154939
|
|
NM_000277.3(PAH):c.801G>C (p.Gln267His)
|
rs199475675
|
|
NM_000277.3(PAH):c.803A>G (p.Tyr268Cys)
|
rs1565846805
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000277.3(PAH):c.805A>G (p.Ile269Val)
|
rs62508692
|
|
NM_000277.3(PAH):c.806T>A (p.Ile269Asn)
|
rs199475644
|
|
NM_000277.3(PAH):c.812A>G (p.His271Arg)
|
rs199475692
|
|
NM_000277.3(PAH):c.812A>T (p.His271Leu)
|
rs199475692
|
|
NM_000277.3(PAH):c.813T>G (p.His271Gln)
|
rs1565846764
|
|
NM_000277.3(PAH):c.823C>T (p.Pro275Ser)
|
rs62508691
|
|
NM_000277.3(PAH):c.824C>G (p.Pro275Arg)
|
rs62508715
|
|
NM_000277.3(PAH):c.824C>T (p.Pro275Leu)
|
rs62508715
|
|
NM_000277.3(PAH):c.826A>G (p.Met276Val)
|
rs62516149
|
|
NM_000277.3(PAH):c.827T>A (p.Met276Lys)
|
rs62508722
|
|
NM_000277.3(PAH):c.827T>C (p.Met276Thr)
|
|
|
NM_000277.3(PAH):c.827T>G (p.Met276Arg)
|
rs62508722
|
|
NM_000277.3(PAH):c.830_831insC (p.Thr278fs)
|
rs2136646052
|
|
NM_000277.3(PAH):c.832A>G (p.Thr278Ala)
|
rs62516156
|
|
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)
|
rs62507262
|
|
NM_000277.3(PAH):c.833C>G (p.Thr278Ser)
|
rs62507262
|
|
NM_000277.3(PAH):c.835_836delinsTG (p.Pro279Cys)
|
rs2136646020
|
|
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)
|
rs796064503
|
|
NM_000277.3(PAH):c.837del (p.Glu280fs)
|
rs281865429
|
|
NM_000277.3(PAH):c.838G>C (p.Glu280Gln)
|
rs62508698
|
|
NM_000277.3(PAH):c.841C>G (p.Pro281Ala)
|
rs199475654
|
|
NM_000277.3(PAH):c.841C>T (p.Pro281Ser)
|
rs199475654
|
|
NM_000277.3(PAH):c.842+4A>G
|
rs1555204434
|
|
NM_000277.3(PAH):c.842C>A (p.Pro281His)
|
rs5030851
|
|
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)
|
rs199475582
|
|
NM_000277.3(PAH):c.845A>G (p.Asp282Gly)
|
rs199475660
|
|
NM_000277.3(PAH):c.847A>G (p.Ile283Val)
|
rs62517168
|
|
NM_000277.3(PAH):c.850T>C (p.Cys284Arg)
|
rs199475682
|
|
NM_000277.3(PAH):c.868C>T (p.His290Tyr)
|
rs1486763160
|
|
NM_000277.3(PAH):c.869A>T (p.His290Leu)
|
rs62642919
|
|
NM_000277.3(PAH):c.870T>G (p.His290Gln)
|
rs751203209
|
|
NM_000277.3(PAH):c.878del (p.Leu293fs)
|
|
|
NM_000277.3(PAH):c.887A>G (p.Asp296Gly)
|
rs281865446
|
|
NM_000277.3(PAH):c.890G>T (p.Arg297Leu)
|
rs62642939
|
|
NM_000277.3(PAH):c.895T>C (p.Phe299Leu)
|
rs796064504
|
|
NM_000277.3(PAH):c.899C>G (p.Ala300Gly)
|
|
|
NM_000277.3(PAH):c.899C>T (p.Ala300Val)
|
rs199475609
|
|
NM_000277.3(PAH):c.903G>T (p.Gln301His)
|
rs1592952179
|
|
NM_000277.3(PAH):c.907T>C (p.Ser303Pro)
|
rs199475608
|
|
NM_000277.3(PAH):c.907T>G (p.Ser303Ala)
|
rs199475608
|
|
NM_000277.3(PAH):c.910C>A (p.Gln304Lys)
|
rs1555204295
|
|
NM_000277.3(PAH):c.910C>T (p.Gln304Ter)
|
rs1555204295
|
|
NM_000277.3(PAH):c.911A>G (p.Gln304Arg)
|
rs199475592
|
|
NM_000277.3(PAH):c.912+2T>C
|
rs281865449
|
|
NM_000277.3(PAH):c.912+3A>C
|
rs281865450
|
|
NM_000277.3(PAH):c.912G>A (p.Gln304=)
|
rs199475583
|
|
NM_000277.3(PAH):c.913-2A>C
|
rs1555203951
|
|
NM_000277.3(PAH):c.913-3C>G
|
rs281865451
|
|
NM_000277.3(PAH):c.913-8A>G
|
rs281865452
|
|
NM_000277.3(PAH):c.914_1199+1del
|
|
|
NM_000277.3(PAH):c.916del (p.Ile306fs)
|
rs281865456
|
|
NM_000277.3(PAH):c.920G>A (p.Gly307Asp)
|
rs2136639683
|
|
NM_000277.3(PAH):c.920G>T (p.Gly307Val)
|
|
|
NM_000277.3(PAH):c.925G>A (p.Ala309Thr)
|
rs1205657950
|
|
NM_000277.3(PAH):c.926C>A (p.Ala309Asp)
|
rs62642935
|
|
NM_000277.3(PAH):c.929C>G (p.Ser310Cys)
|
|
|
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)
|
rs62642913
|
|
NM_000277.3(PAH):c.931_932del (p.Leu311fs)
|
rs281865430
|
|
NM_000277.3(PAH):c.934G>T (p.Gly312Cys)
|
rs763115697
|
|
NM_000277.3(PAH):c.935G>A (p.Gly312Asp)
|
rs62642915
|
|
NM_000277.3(PAH):c.938C>A (p.Ala313Glu)
|
rs62642914
|
|
NM_000277.3(PAH):c.946G>T (p.Glu316Ter)
|
|
|
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)
|
rs199475615
|
|
NM_000277.3(PAH):c.969+1G>A
|
rs62508584
|
|
NM_000277.3(PAH):c.970-1G>C
|
rs202183605
|
|
NM_000277.3(PAH):c.970-1G>T
|
rs202183605
|
|
NM_000277.3(PAH):c.970-2A>C
|
rs62517199
|
|
NM_000277.3(PAH):c.970-2A>G
|
rs62517199
|
|
NM_000277.3(PAH):c.973_976del (p.Tyr325fs)
|
|
|
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)
|
rs62508578
|
|
NM_000277.3(PAH):c.990G>C (p.Glu330Asp)
|
rs62508580
|
|
NM_000277.3(PAH):c.992T>C (p.Phe331Ser)
|
rs199475614
|
|
NM_000277.3(PAH):c.992T>G (p.Phe331Cys)
|
rs199475614
|
|
NM_000277.3(PAH):c.994G>A (p.Gly332Arg)
|
|
|
NM_000281.4(PCBD1):c.117_121del (p.His39fs)
|
|
|
NM_000281.4(PCBD1):c.3+1G>T
|
|
|
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del)
|
rs267608184
|
|
NM_000286.3(PEX12):c.126+2T>A
|
rs1555549902
|
|
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
|
|
|
NM_000286.3(PEX12):c.190_194del (p.Thr64fs)
|
rs1214971073
|
|
NM_000286.3(PEX12):c.1_2del (p.Met1fs)
|
rs1555549923
|
|
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)
|
rs765404768
|
|
NM_000286.3(PEX12):c.223_224del (p.Leu75fs)
|
rs1555549876
|
|
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)
|
rs61752100
|
|
NM_000286.3(PEX12):c.329dup (p.Gln111fs)
|
|
|
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)
|
rs776731688
|
|
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)
|
rs751058068
|
|
NM_000286.3(PEX12):c.363del (p.Leu122fs)
|
|
|
NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)
|
|
|
NM_000286.3(PEX12):c.445_454del (p.Ser149fs)
|
rs1567730901
|
|
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter)
|
rs1555549855
|
|
NM_000286.3(PEX12):c.511del (p.Glu171fs)
|
rs945104524
|
|
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)
|
rs61752102
|
|
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
|
|
|
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
|
|
|
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)
|
rs61752106
|
|
NM_000286.3(PEX12):c.644del (p.Pro215fs)
|
rs1199283977
|
|
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter)
|
rs1555549841
|
|
NM_000286.3(PEX12):c.684_687del (p.Ser229fs)
|
rs62642859
|
|
NM_000286.3(PEX12):c.687_690del (p.Ser229fs)
|
rs1555549769
|
|
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)
|
rs1238451790
|
|
NM_000286.3(PEX12):c.771del (p.Leu258fs)
|
rs1555549754
|
|
NM_000286.3(PEX12):c.781del (p.Asp262fs)
|
rs754193088
|
|
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter)
|
rs747099919
|
|
NM_000286.3(PEX12):c.808del (p.Gln270fs)
|
|
|
NM_000286.3(PEX12):c.876_877insTT (p.Asp293fs)
|
|
|
NM_000286.3(PEX12):c.88_89del (p.Met30fs)
|
rs1555549909
|
|
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer)
|
rs398123302
|
|
NM_000286.3(PEX12):c.910_911del (p.Cys304fs)
|
rs867245161
|
|
NM_000286.3(PEX12):c.920_921del (p.Cys307fs)
|
rs2142228928
|
|
NM_000286.3(PEX12):c.961_964del (p.Gly321fs)
|
rs749650201
|
|
NM_000286.3(PEX12):c.969_970del (p.Phe324fs)
|
rs2072781707
|
|
NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter)
|
rs941358133
|
|
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)
|
rs764657253
|
|
NM_000287.4(PEX6):c.1046+1G>A
|
rs1554127968
|
|
NM_000287.4(PEX6):c.1046+1G>T
|
|
|
NM_000287.4(PEX6):c.1094del (p.Val365fs)
|
|
|
NM_000287.4(PEX6):c.1119del (p.Lys374fs)
|
|
|
NM_000287.4(PEX6):c.1127_1128del (p.Pro376fs)
|
|
|
NM_000287.4(PEX6):c.1130+1G>A
|
rs267608213
|
|
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
|
|
|
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn)
|
rs886043987
|
|
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)
|
|
|
NM_000287.4(PEX6):c.1234-2A>G
|
rs2114247797
|
|
NM_000287.4(PEX6):c.1315del (p.Glu439fs)
|
|
|
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter)
|
rs1356280167
|
|
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)
|
rs1554127491
|
|
NM_000287.4(PEX6):c.1367+1G>A
|
rs1769988075
|
|
NM_000287.4(PEX6):c.1367+2T>C
|
|
|
NM_000287.4(PEX6):c.1368-2del
|
rs1554127415
|
|
NM_000287.4(PEX6):c.1402_1403del (p.Leu468fs)
|
|
|
NM_000287.4(PEX6):c.1415del (p.Pro472fs)
|
rs267608219
|
|
NM_000287.4(PEX6):c.1479+1G>A
|
|
|
NM_000287.4(PEX6):c.1479+2del
|
rs1554127383
|
|
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)
|
rs374396138
|
|
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del)
|
rs1770436260
|
|
NM_000287.4(PEX6):c.1640_1641del (p.Val547fs)
|
|
|
NM_000287.4(PEX6):c.1689-1G>A
|
rs267608223
|
|
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro)
|
rs61752140
|
|
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)
|
rs61753224
|
|
NM_000287.4(PEX6):c.1884+1G>A
|
|
|
NM_000287.4(PEX6):c.1885-1G>A
|
|
|
NM_000287.4(PEX6):c.1963_1965delinsCT (p.Ala656fs)
|
|
|
NM_000287.4(PEX6):c.2020_2022delinsGTCTCTTATACACATCTGT (p.Leu674fs)
|
|
|
NM_000287.4(PEX6):c.2082del (p.Gly695fs)
|
rs766483138
|
|
NM_000287.4(PEX6):c.2094+1G>A
|
rs1581760572
|
|
NM_000287.4(PEX6):c.2095-2A>G
|
|
|
NM_000287.4(PEX6):c.2124_2127del (p.Gly709fs)
|
|
|
NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs)
|
|
|
NM_000287.4(PEX6):c.2165_2166del (p.Gln722fs)
|
|
|
NM_000287.4(PEX6):c.2227del (p.His743fs)
|
|
|
NM_000287.4(PEX6):c.2265_2266insCTCCCCAGCCT (p.Ala756fs)
|
|
|
NM_000287.4(PEX6):c.2289del (p.Thr764fs)
|
|
|
NM_000287.4(PEX6):c.2313_2315delinsTGCCCCTCCCT (p.Glu772fs)
|
|
|
NM_000287.4(PEX6):c.2361del (p.Val788fs)
|
|
|
NM_000287.4(PEX6):c.2363-2A>C
|
rs1769772582
|
|
NM_000287.4(PEX6):c.2363-2A>G
|
|
|
NM_000287.4(PEX6):c.2364_2365del
|
rs755716911
|
|
NM_000287.4(PEX6):c.2435_2436delinsAA (p.Arg812Gln)
|
rs2114238521
|
|
NM_000287.4(PEX6):c.2439dup (p.Arg814fs)
|
rs1554126955
|
|
NM_000287.4(PEX6):c.2462del (p.Val821fs)
|
|
|
NM_000287.4(PEX6):c.2471+1G>A
|
|
|
NM_000287.4(PEX6):c.2472-1G>A
|
|
|
NM_000287.4(PEX6):c.2472-2A>G
|
rs267608242
|
|
NM_000287.4(PEX6):c.2482C>T (p.Gln828Ter)
|
rs267608243
|
|
NM_000287.4(PEX6):c.2563del (p.Asp855fs)
|
|
|
NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)
|
|
|
NM_000287.4(PEX6):c.2589-1G>A
|
|
|
NM_000287.4(PEX6):c.2589-1G>T
|
rs2114237186
|
|
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro)
|
rs267608247
|
|
NM_000287.4(PEX6):c.2666+1G>T
|
rs2114236937
|
|
NM_000287.4(PEX6):c.2667-2A>G
|
rs267608249
|
|
NM_000287.4(PEX6):c.2692del (p.Leu898fs)
|
rs1554126798
|
|
NM_000287.4(PEX6):c.2T>G (p.Met1Arg)
|
rs1554128597
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
NM_000287.4(PEX6):c.385_388del (p.Glu129fs)
|
rs1554128501
|
|
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs)
|
rs1554128488
|
|
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs)
|
rs1554128586
|
|
NM_000287.4(PEX6):c.462del (p.Leu155fs)
|
rs1554128476
|
|
NM_000287.4(PEX6):c.506_507del (p.Glu169fs)
|
rs1554128461
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
|
NM_000287.4(PEX6):c.600del (p.Thr201fs)
|
|
|
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)
|
rs61753215
|
|
NM_000287.4(PEX6):c.872_873del (p.Leu291fs)
|
|
|
NM_000287.4(PEX6):c.883-2A>G
|
|
|
NM_000287.4(PEX6):c.883-6_887del
|
|
|
NM_000287.4(PEX6):c.890T>A (p.Leu297Ter)
|
|
|
NM_000287.4(PEX6):c.929C>T (p.Ser310Leu)
|
rs2150236110
|
|
NM_000287.4(PEX6):c.954del (p.Arg319fs)
|
|
|
NM_000288.4(PEX7):c.122_123del (p.Gly41fs)
|
|
|
NM_000288.4(PEX7):c.130+1G>C
|
rs267608253
|
|
NM_000288.4(PEX7):c.131-1G>A
|
rs2115129048
|
|
NM_000288.4(PEX7):c.131-2A>G
|
rs1554328790
|
|
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.188+2del
|
|
|
NM_000288.4(PEX7):c.189-2A>G
|
rs1554328952
|
|
NM_000288.4(PEX7):c.206del (p.Gly69fs)
|
|
|
NM_000288.4(PEX7):c.224G>A (p.Trp75Ter)
|
|
|
NM_000288.4(PEX7):c.233del (p.Asn78fs)
|
rs1582732852
|
|
NM_000288.4(PEX7):c.257G>A (p.Cys86Tyr)
|
rs61753240
|
|
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)
|
rs763514968
|
|
NM_000288.4(PEX7):c.284G>A (p.Trp95Ter)
|
|
|
NM_000288.4(PEX7):c.297del (p.Ala100fs)
|
|
|
NM_000288.4(PEX7):c.31_56del (p.Met11fs)
|
rs1057516961
|
|
NM_000288.4(PEX7):c.323_324del (p.Lys108fs)
|
|
|
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)
|
rs62653604
|
|
NM_000288.4(PEX7):c.339+2T>C
|
rs1057517059
|
|
NM_000288.4(PEX7):c.340-1G>T
|
rs780751870
|
|
NM_000288.4(PEX7):c.361C>T (p.Gln121Ter)
|
|
|
NM_000288.4(PEX7):c.363_526+230del
|
rs1582744649
|
|
NM_000288.4(PEX7):c.373G>T (p.Glu125Ter)
|
rs769137963
|
|
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter)
|
rs2115170536
|
|
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)
|
rs764346452
|
|
NM_000288.4(PEX7):c.418-1G>A
|
rs773406384
|
|
NM_000288.4(PEX7):c.418-1G>C
|
rs773406384
|
|
NM_000288.4(PEX7):c.463G>T (p.Glu155Ter)
|
|
|
NM_000288.4(PEX7):c.468_471dup (p.Ile158fs)
|
|
|
NM_000288.4(PEX7):c.46_47del (p.Gly16fs)
|
|
|
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter)
|
rs1173171051
|
|
NM_000288.4(PEX7):c.506GTT[1] (p.Cys170del)
|
|
|
NM_000288.4(PEX7):c.508del (p.Cys170fs)
|
rs1057516827
|
|
NM_000288.4(PEX7):c.513del (p.Phe171fs)
|
|
|
NM_000288.4(PEX7):c.527-2A>G
|
rs1057517339
|
|
NM_000288.4(PEX7):c.538_539del (p.Leu180fs)
|
rs1582757650
|
|
NM_000288.4(PEX7):c.545dup (p.Trp183fs)
|
rs1057516574
|
|
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
|
|
|
NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter)
|
rs1057516882
|
|
NM_000288.4(PEX7):c.622A>T (p.Lys208Ter)
|
|
|
NM_000288.4(PEX7):c.633+1G>A
|
rs1057516989
|
|
NM_000288.4(PEX7):c.634-2A>G
|
|
|
NM_000288.4(PEX7):c.638dup (p.Leu213fs)
|
|
|
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)
|
rs1554333880
|
|
NM_000288.4(PEX7):c.668T>A (p.Leu223Ter)
|
|
|
NM_000288.4(PEX7):c.682_683delinsA (p.Leu228fs)
|
|
|
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153
|
|
NM_000288.4(PEX7):c.735dup (p.Arg246Ter)
|
rs1582760004
|
|
NM_000288.4(PEX7):c.736_747+17del
|
rs1057517257
|
|
NM_000288.4(PEX7):c.747+1G>A
|
|
|
NM_000288.4(PEX7):c.747+2T>A
|
|
|
NM_000288.4(PEX7):c.747del (p.Lys249fs)
|
|
|
NM_000288.4(PEX7):c.748-2A>G
|
rs778862698
|
|
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)
|
rs61753236
|
|
NM_000288.4(PEX7):c.774_784del (p.Ala259fs)
|
rs1057516824
|
|
NM_000288.4(PEX7):c.803+1G>A
|
|
|
NM_000288.4(PEX7):c.806dup (p.Trp270fs)
|
rs1464766327
|
|
NM_000288.4(PEX7):c.817del (p.Ser273fs)
|
rs1554335926
|
|
NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter)
|
rs1057516737
|
|
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)
|
rs267608257
|
|
NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer)
|
rs1554335937
|
|
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
|
|
|
NM_000302.4(PLOD1):c.1097+1G>A
|
rs1389548210
|
|
NM_000302.4(PLOD1):c.1097+1G>C
|
|
|
NM_000302.4(PLOD1):c.1107_1114dup (p.Asp372fs)
|
|
|
NM_000302.4(PLOD1):c.1202+1G>A
|
|
|
NM_000302.4(PLOD1):c.1202+2T>C
|
|
|
NM_000302.4(PLOD1):c.1328+1G>A
|
|
|
NM_000302.4(PLOD1):c.1329-1G>T
|
rs112460511
|
|
NM_000302.4(PLOD1):c.1470+2T>C
|
rs886043927
|
|
NM_000302.4(PLOD1):c.1584+1G>A
|
rs746930362
|
|
NM_000302.4(PLOD1):c.1584+1G>T
|
|
|
NM_000302.4(PLOD1):c.1585-2A>G
|
|
|
NM_000302.4(PLOD1):c.168+1G>T
|
|
|
NM_000302.4(PLOD1):c.1756-1_1767dup
|
|
|
NM_000302.4(PLOD1):c.1839_1902+64del
|
rs2100764790
|
|
NM_000302.4(PLOD1):c.1903-2A>G
|
rs1553137486
|
|
NM_000302.4(PLOD1):c.1903-2A>T
|
|
|
NM_000302.4(PLOD1):c.1999G>A (p.Ala667Thr)
|
|
|
NM_000302.4(PLOD1):c.254T>C (p.Leu85Pro)
|
|
|
NM_000302.4(PLOD1):c.467-2A>G
|
|
|
NM_000302.4(PLOD1):c.580-2A>G
|
|
|
NM_000302.4(PLOD1):c.644-2A>G
|
|
|
NM_000302.4(PLOD1):c.975+2_975+3insTT
|
|
|
NM_000302.4(PLOD1):c.976-2A>G
|
|
|
NM_000302.4(PLOD1):c.976-2A>T
|
rs1375808651
|
|
NM_000317.3(PTS):c.-24_9del
|
rs2135407114
|
|
NM_000317.3(PTS):c.108C>A (p.Asn36Lys)
|
|
|
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)
|
rs1449216377
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
NM_000317.3(PTS):c.163+1G>T
|
rs2135408292
|
|
NM_000317.3(PTS):c.164-2A>G
|
rs1555198233
|
|
NM_000317.3(PTS):c.164-716A>T
|
rs1859903893
|
|
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.174_175del (p.Val59fs)
|
rs2135408968
|
|
NM_000317.3(PTS):c.187-2A>G
|
rs2135409169
|
|
NM_000317.3(PTS):c.208del (p.Val70fs)
|
|
|
NM_000317.3(PTS):c.227_228del (p.Leu76fs)
|
rs1555198263
|
|
NM_000317.3(PTS):c.238A>G (p.Met80Val)
|
rs1057517810
|
|
NM_000317.3(PTS):c.23_27dup (p.Cys10fs)
|
|
|
NM_000317.3(PTS):c.243+1G>T
|
|
|
NM_000317.3(PTS):c.244-1G>T
|
rs1555198451
|
|
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
|
|
|
NM_000317.3(PTS):c.256C>T (p.Gln86Ter)
|
|
|
NM_000317.3(PTS):c.271A>G (p.Lys91Glu)
|
|
|
NM_000317.3(PTS):c.281A>G (p.Asp94Gly)
|
rs1057517811
|
|
NM_000317.3(PTS):c.2T>G (p.Met1Arg)
|
rs1859865221
|
|
NM_000317.3(PTS):c.314+1G>C
|
rs1555198462
|
|
NM_000317.3(PTS):c.315-2A>G
|
rs1555198483
|
|
NM_000317.3(PTS):c.337del (p.Tyr113fs)
|
rs1555198494
|
|
NM_000317.3(PTS):c.342C>G (p.Ile114Met)
|
rs17851590
|
|
NM_000317.3(PTS):c.351C>A (p.Asn117Lys)
|
rs2135410460
|
|
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
|
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
NM_000317.3(PTS):c.399C>G (p.Tyr133Ter)
|
|
|
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)
|
rs779681799
|
|
NM_000317.3(PTS):c.407A>G (p.Asp136Gly)
|
rs1859972447
|
|
NM_000317.3(PTS):c.407A>T (p.Asp136Val)
|
rs1859972447
|
|
NM_000317.3(PTS):c.65C>G (p.Ala22Gly)
|
rs2135407190
|
|
NM_000317.3(PTS):c.73C>G (p.Arg25Gly)
|
rs1167104933
|
|
NM_000317.3(PTS):c.74G>A (p.Arg25Gln)
|
rs104894273
|
|
NM_000317.3(PTS):c.83+1G>A
|
rs927103678
|
|
NM_000317.3(PTS):c.83+1G>C
|
|
|
NM_000317.3(PTS):c.84-1G>A
|
|
|
NM_000317.3(PTS):c.84-2A>G
|
|
|
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys)
|
rs61752119
|
|
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
|
|
|
NM_000318.3(PEX2):c.188dup (p.Trp65fs)
|
|
|
NM_000318.3(PEX2):c.197_198del (p.Arg66fs)
|
|
|
NM_000318.3(PEX2):c.218del (p.Asn73fs)
|
rs1586070089
|
|
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)
|
rs1586070043
|
|
NM_000318.3(PEX2):c.233dup (p.Ser79fs)
|
|
|
NM_000318.3(PEX2):c.253dup (p.Tyr85fs)
|
|
|
NM_000318.3(PEX2):c.260del (p.Asn87fs)
|
|
|
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter)
|
rs200065382
|
|
NM_000318.3(PEX2):c.310del (p.Ile104fs)
|
|
|
NM_000318.3(PEX2):c.310dup (p.Ile104fs)
|
rs1235008965
|
|
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
|
|
|
NM_000318.3(PEX2):c.325dup (p.Cys109fs)
|
rs1052655986
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
NM_000318.3(PEX2):c.34_37del (p.Asn12fs)
|
rs1174648906
|
|
NM_000318.3(PEX2):c.352del (p.Glu118fs)
|
|
|
NM_000318.3(PEX2):c.354_355del (p.Arg119fs)
|
rs1554584505
|
|
NM_000318.3(PEX2):c.395_396del (p.Phe132fs)
|
|
|
NM_000318.3(PEX2):c.472del (p.Leu158fs)
|
rs1554584487
|
|
NM_000318.3(PEX2):c.502_503del (p.Glu168fs)
|
rs1554584474
|
|
NM_000318.3(PEX2):c.521_524del (p.His174fs)
|
|
|
NM_000318.3(PEX2):c.550delinsCC (p.Cys184fs)
|
|
|
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
|
|
|
NM_000318.3(PEX2):c.661_676dup (p.Pro226fs)
|
|
|
NM_000318.3(PEX2):c.791_795del (p.Cys264fs)
|
|
|
NM_000318.3(PEX2):c.807_808insT (p.Ser270Ter)
|
|
|
NM_000318.3(PEX2):c.831delinsGTTTCTTA (p.Tyr277Ter)
|
|
|
NM_000318.3(PEX2):c.834_838del (p.Phe278fs)
|
rs267608188
|
|
NM_000320.3(QDPR):c.105+1G>A
|
rs776171302
|
|
NM_000320.3(QDPR):c.105+2T>A
|
|
|
NM_000320.3(QDPR):c.105G>C (p.Trp35Cys)
|
|
|
NM_000320.3(QDPR):c.106-1G>C
|
rs1428018512
|
|
NM_000320.3(QDPR):c.106T>G (p.Trp36Gly)
|
|
|
NM_000320.3(QDPR):c.265G>C (p.Gly89Arg)
|
rs1184906056
|
|
NM_000320.3(QDPR):c.419C>A (p.Ala140Asp)
|
|
|
NM_000320.3(QDPR):c.445G>A (p.Gly149Arg)
|
rs1028029163
|
|
NM_000320.3(QDPR):c.445G>C (p.Gly149Arg)
|
|
|
NM_000320.3(QDPR):c.472C>T (p.His158Tyr)
|
rs750201480
|
|
NM_000320.3(QDPR):c.488G>A (p.Ser163Asn)
|
rs2108987681
|
|
NM_000320.3(QDPR):c.49G>A (p.Gly17Ser)
|
|
|
NM_000320.3(QDPR):c.515C>T (p.Pro172Leu)
|
|
|
NM_000320.3(QDPR):c.516del (p.Ala175fs)
|
|
|
NM_000320.3(QDPR):c.545C>G (p.Pro182Arg)
|
|
|
NM_000320.3(QDPR):c.546-1G>A
|
rs995264302
|
|
NM_000320.3(QDPR):c.635T>C (p.Phe212Ser)
|
|
|
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)
|
rs542296728
|
|
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val)
|
rs1571164534
|
|
NM_000329.3(RPE65):c.1004_1005del (p.Glu335fs)
|
|
|
NM_000329.3(RPE65):c.1040G>A (p.Arg347His)
|
rs562037932
|
|
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)
|
|
|
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)
|
|
|
NM_000329.3(RPE65):c.10del (p.Gln4fs)
|
rs747393487
|
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989
|
|
NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys)
|
rs62653012
|
|
NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)
|
|
|
NM_000329.3(RPE65):c.12-1G>C
|
rs1348031618
|
|
NM_000329.3(RPE65):c.12-2A>T
|
|
|
NM_000329.3(RPE65):c.1243+1G>A
|
rs1421696563
|
|
NM_000329.3(RPE65):c.1243+1G>C
|
|
|
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)
|
rs1571158755
|
|
NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)
|
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
|
rs34627040
|
|
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)
|
rs1645824187
|
|
NM_000329.3(RPE65):c.1339-1G>C
|
|
|
NM_000329.3(RPE65):c.1339-2A>G
|
|
|
NM_000329.3(RPE65):c.1345A>T (p.Lys449Ter)
|
|
|
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)
|
rs1645823028
|
|
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)
|
rs62637006
|
|
NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr)
|
rs1395763356
|
|
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)
|
rs1395763356
|
|
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs)
|
rs2100806889
|
|
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)
|
rs774211361
|
|
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)
|
rs62637007
|
|
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)
|
rs2100831413
|
|
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del)
|
rs1557595745
|
|
NM_000329.3(RPE65):c.1451-1G>A
|
rs1317871521
|
|
NM_000329.3(RPE65):c.1451-2A>C
|
rs1557595199
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)
|
rs1193631220
|
|
NM_000329.3(RPE65):c.186_191del (p.Asp62_Gln64delinsGlu)
|
rs1645945582
|
|
NM_000329.3(RPE65):c.187G>C (p.Gly63Arg)
|
rs1645945643
|
|
NM_000329.3(RPE65):c.202C>T (p.His68Tyr)
|
rs61752866
|
|
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser)
|
rs1553153597
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro)
|
rs61752873
|
|
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
|
|
|
NM_000329.3(RPE65):c.311G>T (p.Gly104Val)
|
rs61752875
|
|
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)
|
rs1260914084
|
|
NM_000329.3(RPE65):c.331C>A (p.Pro111Thr)
|
rs886042220
|
|
NM_000329.3(RPE65):c.353+1G>A
|
|
|
NM_000329.3(RPE65):c.354-1G>A
|
rs2100827985
|
|
NM_000329.3(RPE65):c.354-1G>T
|
rs2100827985
|
|
NM_000329.3(RPE65):c.354-2del
|
rs2100827990
|
|
NM_000329.3(RPE65):c.36C>G (p.Tyr12Ter)
|
|
|
NM_000329.3(RPE65):c.407T>G (p.Val136Gly)
|
rs1645928251
|
|
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
|
|
|
NM_000329.3(RPE65):c.433G>C (p.Ala145Pro)
|
rs767528365
|
|
NM_000329.3(RPE65):c.434C>A (p.Ala145Asp)
|
|
|
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)
|
rs61752882
|
|
NM_000329.3(RPE65):c.496-1G>A
|
rs2100821984
|
|
NM_000329.3(RPE65):c.536C>T (p.Ala179Val)
|
rs1645898265
|
|
NM_000329.3(RPE65):c.544C>A (p.His182Asn)
|
rs61752884
|
|
NM_000329.3(RPE65):c.549del (p.Ile183fs)
|
|
|
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn)
|
rs1553153243
|
|
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)
|
rs1189903735
|
|
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter)
|
rs777966849
|
|
NM_000329.3(RPE65):c.643+2T>A
|
rs1645896934
|
|
NM_000329.3(RPE65):c.644-2A>G
|
|
|
NM_000329.3(RPE65):c.672_673del (p.Glu224fs)
|
|
|
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)
|
rs192907397
|
|
NM_000329.3(RPE65):c.725+1G>A
|
rs1260969698
|
|
NM_000329.3(RPE65):c.770T>G (p.Val257Gly)
|
rs1645883131
|
|
NM_000329.3(RPE65):c.842_843del (p.Glu280_Ser281insTer)
|
|
|
NM_000329.3(RPE65):c.858+1dup
|
|
|
NM_000329.3(RPE65):c.859-1G>A
|
|
|
NM_000329.3(RPE65):c.859-2A>C
|
|
|
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)
|
rs281865289
|
|
NM_000329.3(RPE65):c.886del (p.Arg296fs)
|
rs746127684
|
|
NM_000329.3(RPE65):c.89dup (p.Thr31fs)
|
rs281865286
|
|
NM_000329.3(RPE65):c.90delinsGAGCTC (p.Thr31fs)
|
|
|
NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)
|
rs2100818575
|
|
NM_000329.3(RPE65):c.914G>T (p.Arg305Ile)
|
rs1645880293
|
|
NM_000329.3(RPE65):c.923C>T (p.Pro308Leu)
|
rs1645880232
|
|
NM_000329.3(RPE65):c.93A>G (p.Thr31=)
|
rs2100834154
|
|
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)
|
rs61752908
|
|
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup)
|
rs1571165140
|
|
NM_000329.3(RPE65):c.[1067dup];[1543C>T]
|
|
|
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys)
|
rs1181083611
|
|
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
|
|
|
NM_000334.4(SCN4A):c.435C>A (p.Cys145Ter)
|
|
|
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)
|
rs886041805
|
|
NM_000337.6(SGCD):c.192+1G>A
|
rs1267810339
|
|
NM_000337.6(SGCD):c.208_210delinsGT (p.Leu70fs)
|
|
|
NM_000337.6(SGCD):c.294+1G>A
|
rs727503422
|
|
NM_000337.6(SGCD):c.390del (p.Ala131fs)
|
rs397517921
|
|
NM_000337.6(SGCD):c.4-1G>C
|
|
|
NM_000337.6(SGCD):c.4-1G>T
|
rs1554094927
|
|
NM_000337.6(SGCD):c.502+2T>C
|
|
|
NM_000337.6(SGCD):c.576-1G>C
|
rs2113176852
|
|
NM_000337.6(SGCD):c.618del (p.Gly207fs)
|
rs1554137109
|
|
NM_000337.6(SGCD):c.663C>A (p.Cys221Ter)
|
rs1175344271
|
|
NM_000337.6(SGCD):c.699+1G>T
|
rs1554137130
|
|
NM_000337.6(SGCD):c.69C>A (p.Tyr23Ter)
|
rs397517923
|
|
NM_000352.6(ABCC8):c.290+2T>C
|
rs1554948310
|
|
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys)
|
rs1554904936
|
|
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)
|
rs193922408
|
|
NM_000359.3(TGM1):c.953C>G (p.Pro318Arg)
|
rs2139024935
|
|
NM_000360.4(TH):c.1002del (p.His335fs)
|
rs2133692304
|
|
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
|
|
|
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)
|
rs1590166832
|
|
NM_000360.4(TH):c.1036C>T (p.Gln346Ter)
|
|
|
NM_000360.4(TH):c.1047+1G>T
|
|
|
NM_000360.4(TH):c.1048-2A>G
|
rs2133691221
|
|
NM_000360.4(TH):c.1066dup (p.Leu356fs)
|
|
|
NM_000360.4(TH):c.1104+1G>A
|
rs1057516819
|
|
NM_000360.4(TH):c.1105-1G>A
|
|
|
NM_000360.4(TH):c.1105-1G>T
|
rs2133690469
|
|
NM_000360.4(TH):c.1118C>T (p.Thr373Met)
|
rs868563700
|
|
NM_000360.4(TH):c.1125del (p.Glu375fs)
|
rs2133690407
|
|
NM_000360.4(TH):c.1141C>T (p.Gln381Ter)
|
|
|
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
|
|
|
NM_000360.4(TH):c.1176_1180del (p.Ser394fs)
|
rs1554922593
|
|
NM_000360.4(TH):c.1200+2T>C
|
rs2133690169
|
|
NM_000360.4(TH):c.1201-1G>A
|
rs2133689319
|
|
NM_000360.4(TH):c.1201-2_1201-1delinsCC
|
rs2133689324
|
|
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)
|
rs575326605
|
|
NM_000360.4(TH):c.1229G>C (p.Arg410Pro)
|
|
|
NM_000360.4(TH):c.1266C>A (p.Tyr422Ter)
|
rs1554922441
|
|
NM_000360.4(TH):c.1267C>T (p.Gln423Ter)
|
|
|
NM_000360.4(TH):c.1273C>T (p.Gln425Ter)
|
|
|
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)
|
rs786204540
|
|
NM_000360.4(TH):c.1282del (p.Gln428fs)
|
rs1554922434
|
|
NM_000360.4(TH):c.1287_1290del (p.Val430fs)
|
|
|
NM_000360.4(TH):c.12_43del (p.Asp5fs)
|
rs1554924357
|
|
NM_000360.4(TH):c.12dup (p.Asp5fs)
|
rs1057516716
|
|
NM_000360.4(TH):c.1357C>T (p.Arg453Cys)
|
rs755922032
|
|
NM_000360.4(TH):c.1420del (p.Ala474fs)
|
|
|
NM_000360.4(TH):c.192del (p.Asp66fs)
|
|
|
NM_000360.4(TH):c.203del (p.Leu68fs)
|
rs1554923852
|
|
NM_000360.4(TH):c.278_296dup (p.Val100fs)
|
rs1554923810
|
|
NM_000360.4(TH):c.291_292del (p.Arg98fs)
|
|
|
NM_000360.4(TH):c.293_295dup (p.Arg98_Ala99insGly)
|
rs1590170978
|
|
NM_000360.4(TH):c.312+1G>A
|
rs1554923802
|
|
NM_000360.4(TH):c.328del (p.Ile110fs)
|
|
|
NM_000360.4(TH):c.354_370del (p.Gln119fs)
|
|
|
NM_000360.4(TH):c.392_395dup (p.Leu134fs)
|
|
|
NM_000360.4(TH):c.407T>A (p.Val136Glu)
|
rs1590169802
|
|
NM_000360.4(TH):c.469delinsCTCACCCTTGG (p.Ser157fs)
|
|
|
NM_000360.4(TH):c.487+1G>A
|
rs1554923513
|
|
NM_000360.4(TH):c.487+1G>C
|
rs1554923513
|
|
NM_000360.4(TH):c.487+2T>C
|
rs1057517003
|
|
NM_000360.4(TH):c.488-1G>A
|
rs1285458218
|
|
NM_000360.4(TH):c.488-1G>T
|
rs1285458218
|
|
NM_000360.4(TH):c.51del (p.Val18fs)
|
|
|
NM_000360.4(TH):c.523A>T (p.Lys175Ter)
|
|
|
NM_000360.4(TH):c.531_541del (p.His178fs)
|
|
|
NM_000360.4(TH):c.548dup (p.Asp184fs)
|
|
|
NM_000360.4(TH):c.56C>G (p.Ser19Cys)
|
|
|
NM_000360.4(TH):c.576+2T>G
|
rs2133696288
|
|
NM_000360.4(TH):c.577-2A>G
|
|
|
NM_000360.4(TH):c.577-2A>T
|
|
|
NM_000360.4(TH):c.628G>A (p.Ala210Thr)
|
rs1260455415
|
|
NM_000360.4(TH):c.634C>T (p.Gln212Ter)
|
|
|
NM_000360.4(TH):c.644+2T>A
|
rs1554923317
|
|
NM_000360.4(TH):c.644_644+15del
|
rs1554923305
|
|
NM_000360.4(TH):c.645-2A>G
|
rs1590168368
|
|
NM_000360.4(TH):c.695+1G>C
|
|
|
NM_000360.4(TH):c.696-1G>A
|
|
|
NM_000360.4(TH):c.696-2A>G
|
rs1554923121
|
|
NM_000360.4(TH):c.708del (p.Val235_Tyr236insTer)
|
|
|
NM_000360.4(TH):c.714_715del (p.Leu239fs)
|
rs1564918287
|
|
NM_000360.4(TH):c.717del (p.Lys240fs)
|
rs1057516712
|
|
NM_000360.4(TH):c.748del (p.Glu250fs)
|
|
|
NM_000360.4(TH):c.779del (p.Arg260fs)
|
|
|
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
|
|
|
NM_000360.4(TH):c.792C>G (p.Tyr264Ter)
|
|
|
NM_000360.4(TH):c.811C>T (p.Gln271Ter)
|
|
|
NM_000360.4(TH):c.815T>G (p.Leu272Arg)
|
rs775410637
|
|
NM_000360.4(TH):c.820_823del (p.Asp274fs)
|
|
|
NM_000360.4(TH):c.827C>A (p.Ser276Tyr)
|
|
|
NM_000360.4(TH):c.835dup (p.Leu279fs)
|
|
|
NM_000360.4(TH):c.839_840insCC (p.Lys280fs)
|
|
|
NM_000360.4(TH):c.841+1G>A
|
|
|
NM_000360.4(TH):c.841+1G>T
|
rs2133693369
|
|
NM_000360.4(TH):c.845dup (p.Thr283fs)
|
rs1554923004
|
|
NM_000360.4(TH):c.889C>T (p.Arg297Trp)
|
|
|
NM_000360.4(TH):c.90+13G>T
|
rs77140743
|
|
NM_000360.4(TH):c.90+14T>A
|
|
|
NM_000360.4(TH):c.90+7dup
|
rs780485650
|
|
NM_000360.4(TH):c.91-860G>T
|
|
|
NM_000360.4(TH):c.91-9_107del
|
rs1057516874
|
|
NM_000360.4(TH):c.917G>A (p.Arg306His)
|
rs28934580
|
|
NM_000360.4(TH):c.921del (p.Phe308fs)
|
rs1057516491
|
|
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
|
|
|
NM_000360.4(TH):c.977+1G>A
|
rs1057516736
|
|
NM_000360.4(TH):c.977+1del
|
|
|
NM_000360.4(TH):c.978-1G>A
|
|
|
NM_000360.4(TH):c.978-1_1019del
|
|
|
NM_000360.4(TH):c.978-2A>G
|
|
|
NM_000360.4(TH):c.983G>T (p.Cys328Phe)
|
rs121917765
|
|
NM_000360.4(TH):c.997del (p.Leu333fs)
|
rs1057517162
|
|
NM_000370.3(TTPA):c.13C>T (p.Arg5Ter)
|
rs1008240677
|
|
NM_000370.3(TTPA):c.148delinsATG (p.Ser50fs)
|
|
|
NM_000370.3(TTPA):c.172G>C (p.Ala58Pro)
|
rs982650476
|
|
NM_000370.3(TTPA):c.173C>A (p.Ala58Asp)
|
rs1805742556
|
|
NM_000370.3(TTPA):c.182del (p.Phe61fs)
|
rs1805742175
|
|
NM_000370.3(TTPA):c.19C>T (p.Gln7Ter)
|
rs1351036862
|
|
NM_000370.3(TTPA):c.19del (p.Gln7fs)
|
rs760014795
|
|
NM_000370.3(TTPA):c.1A>T (p.Met1Leu)
|
rs1408863841
|
|
NM_000370.3(TTPA):c.204+1G>T
|
|
|
NM_000370.3(TTPA):c.214_215delinsC (p.Asn72fs)
|
|
|
NM_000370.3(TTPA):c.223A>T (p.Lys75Ter)
|
|
|
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)
|
rs1554524061
|
|
NM_000370.3(TTPA):c.2T>A (p.Met1Lys)
|
rs786204758
|
|
NM_000370.3(TTPA):c.302_309del (p.His101fs)
|
|
|
NM_000370.3(TTPA):c.313A>T (p.Arg105Ter)
|
rs1057516423
|
|
NM_000370.3(TTPA):c.339del (p.Val114fs)
|
rs1563363293
|
|
NM_000370.3(TTPA):c.358+2T>C
|
|
|
NM_000370.3(TTPA):c.358+2T>G
|
|
|
NM_000370.3(TTPA):c.381dup (p.Thr128fs)
|
|
|
NM_000370.3(TTPA):c.438_439delinsCGATCACAGATGTGTA (p.Glu146fs)
|
|
|
NM_000370.3(TTPA):c.441del (p.Glu148fs)
|
rs1057517448
|
|
NM_000370.3(TTPA):c.467_469delinsT (p.Ala156fs)
|
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000370.3(TTPA):c.489del (p.Trp163fs)
|
|
|
NM_000370.3(TTPA):c.557C>A (p.Ser186Ter)
|
rs1554605498
|
|
NM_000370.3(TTPA):c.588del (p.Leu196_Ile197insTer)
|
|
|
NM_000370.3(TTPA):c.74del (p.Gln25fs)
|
|
|
NM_000370.3(TTPA):c.80del (p.Gly27fs)
|
|
|
NM_000370.3(TTPA):c.83_105del (p.Leu28fs)
|
rs1554525128
|
|
NM_000370.3(TTPA):c.84_91dup (p.Leu31fs)
|
rs1805745954
|
|
NM_000370.3(TTPA):c.88_118del (p.Ala30fs)
|
rs1554525125
|
|
NM_000372.4(TYR):c.[1276_1282delATGGTTC];[139G>A]
|
|
|
NM_000372.5(TYR):c.101A>C (p.Glu34Ala)
|
rs1555083355
|
|
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)
|
rs773970123
|
|
NM_000372.5(TYR):c.1039T>C (p.Phe347Leu)
|
rs2135281765
|
|
NM_000372.5(TYR):c.1045_1046insAT (p.Ser349fs)
|
|
|
NM_000372.5(TYR):c.1100A>G (p.His367Arg)
|
rs61754384
|
|
NM_000372.5(TYR):c.1109T>A (p.Met370Lys)
|
|
|
NM_000372.5(TYR):c.1198T>A (p.Trp400Arg)
|
rs1590902150
|
|
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala)
|
rs797046081
|
|
NM_000372.5(TYR):c.125A>G (p.Asp42Gly)
|
rs28940878
|
|
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter)
|
rs1590902378
|
|
NM_000372.5(TYR):c.1392dup (p.Lys465Ter)
|
rs1555100853
|
|
NM_000372.5(TYR):c.1493del (p.Leu498fs)
|
rs763648121
|
|
NM_000372.5(TYR):c.157G>T (p.Gly53Cys)
|
rs1591133731
|
|
NM_000372.5(TYR):c.240G>C (p.Trp80Cys)
|
|
|
NM_000372.5(TYR):c.259A>G (p.Arg87Gly)
|
|
|
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys)
|
rs797046082
|
|
NM_000372.5(TYR):c.452T>G (p.Ile151Ser)
|
rs747095957
|
|
NM_000372.5(TYR):c.529G>C (p.Val177Leu)
|
rs138487695
|
|
NM_000372.5(TYR):c.580del (p.Ile194fs)
|
rs797046132
|
|
NM_000372.5(TYR):c.616G>A (p.Ala206Thr)
|
rs28940880
|
|
NM_000372.5(TYR):c.661G>A (p.Glu221Lys)
|
rs758115945
|
|
NM_000372.5(TYR):c.739T>C (p.Cys247Arg)
|
rs367543068
|
|
NM_000372.5(TYR):c.755T>G (p.Met252Arg)
|
rs1943262190
|
|
NM_000372.5(TYR):c.757G>A (p.Gly253Arg)
|
rs61754369
|
|
NM_000372.5(TYR):c.820-3C>G
|
rs61754371
|
|
NM_000372.5(TYR):c.902C>T (p.Pro301Leu)
|
rs796051880
|
|
NM_000372.5(TYR):c.97A>G (p.Lys33Glu)
|
|
|
NM_000372.5(TYR):c.982G>A (p.Glu328Lys)
|
rs61754380
|
|
NM_000372.5(TYR):c.996G>A (p.Met332Ile)
|
rs2135253415
|
|
NM_000372.5(TYR):c.[1205G>A;575C>A]
|
|
|
NM_000382.2(ALDH3A2):c.154_155delAG
|
rs1428029642
|
|
NM_000382.3(ALDH3A2):c.1000G>T (p.Gly334Ter)
|
|
|
NM_000382.3(ALDH3A2):c.1023_1026del (p.Val342fs)
|
|
|
NM_000382.3(ALDH3A2):c.103del (p.Gln35fs)
|
|
|
NM_000382.3(ALDH3A2):c.1096del (p.His366fs)
|
|
|
NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)
|
|
|
NM_000382.3(ALDH3A2):c.1100del (p.Asn367fs)
|
|
|
NM_000382.3(ALDH3A2):c.1108-1G>A
|
|
|
NM_000382.3(ALDH3A2):c.1108-1G>T
|
rs1036733598
|
|
NM_000382.3(ALDH3A2):c.1108-2A>G
|
|
|
NM_000382.3(ALDH3A2):c.1141G>T (p.Gly381Ter)
|
|
|
NM_000382.3(ALDH3A2):c.1207+1G>A
|
|
|
NM_000382.3(ALDH3A2):c.1212del (p.Ser405fs)
|
|
|
NM_000382.3(ALDH3A2):c.1258dup (p.Ser420fs)
|
|
|
NM_000382.3(ALDH3A2):c.126del (p.Thr43fs)
|
|
|
NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)
|
|
|
NM_000382.3(ALDH3A2):c.1302dup (p.Ala435fs)
|
|
|
NM_000382.3(ALDH3A2):c.1362dup (p.Leu455fs)
|
|
|
NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)
|
|
|
NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)
|
|
|
NM_000382.3(ALDH3A2):c.1444-1G>T
|
|
|
NM_000382.3(ALDH3A2):c.151_152del (p.Lys51fs)
|
rs1057517403
|
|
NM_000382.3(ALDH3A2):c.153+2T>G
|
|
|
NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val)
|
|
|
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)
|
|
|
NM_000382.3(ALDH3A2):c.231del (p.Glu77fs)
|
|
|
NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)
|
|
|
NM_000382.3(ALDH3A2):c.253_254del (p.Lys85fs)
|
|
|
NM_000382.3(ALDH3A2):c.257_259delinsCACTCAGC (p.Lys86fs)
|
|
|
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs)
|
rs767751416
|
|
NM_000382.3(ALDH3A2):c.281dup (p.Ala95fs)
|
|
|
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
|
rs72547554
|
|
NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)
|
|
|
NM_000382.3(ALDH3A2):c.341C>T (p.Pro114Leu)
|
|
|
NM_000382.3(ALDH3A2):c.364del (p.Pro121_Leu122insTer)
|
rs2152326510
|
|
NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)
|
|
|
NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)
|
|
|
NM_000382.3(ALDH3A2):c.420_426del (p.Ser140fs)
|
|
|
NM_000382.3(ALDH3A2):c.464T>A (p.Leu155Ter)
|
|
|
NM_000382.3(ALDH3A2):c.471+1del
|
rs786204741
|
|
NM_000382.3(ALDH3A2):c.471+2T>G
|
|
|
NM_000382.3(ALDH3A2):c.472-2A>G
|
|
|
NM_000382.3(ALDH3A2):c.522_523del (p.Lys175fs)
|
|
|
NM_000382.3(ALDH3A2):c.571A>T (p.Lys191Ter)
|
|
|
NM_000382.3(ALDH3A2):c.574dup (p.Ile192fs)
|
rs772967175
|
|
NM_000382.3(ALDH3A2):c.577del (p.Val193fs)
|
|
|
NM_000382.3(ALDH3A2):c.652A>T (p.Lys218Ter)
|
|
|
NM_000382.3(ALDH3A2):c.653_654del (p.Lys218fs)
|
|
|
NM_000382.3(ALDH3A2):c.680+1G>A
|
|
|
NM_000382.3(ALDH3A2):c.681-14T>A
|
|
|
NM_000382.3(ALDH3A2):c.681-1G>A
|
|
|
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)
|
rs72547567
|
|
NM_000382.3(ALDH3A2):c.723C>A (p.Cys241Ter)
|
|
|
NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter)
|
rs2152325575
|
|
NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)
|
|
|
NM_000382.3(ALDH3A2):c.769dup (p.Ile257fs)
|
|
|
NM_000382.3(ALDH3A2):c.776G>A (p.Trp259Ter)
|
|
|
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter)
|
rs1555533754
|
|
NM_000382.3(ALDH3A2):c.784A>T (p.Lys262Ter)
|
|
|
NM_000382.3(ALDH3A2):c.798+1G>A
|
|
|
NM_000382.3(ALDH3A2):c.798+5G>A
|
|
|
NM_000382.3(ALDH3A2):c.799G>T (p.Glu267Ter)
|
|
|
NM_000382.3(ALDH3A2):c.824_825del (p.Glu275fs)
|
rs1057516788
|
|
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
|
|
|
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)
|
|
|
NM_000382.3(ALDH3A2):c.913G>T (p.Glu305Ter)
|
|
|
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)
|
rs779956047
|
|
NM_000400.4(ERCC2):c.1007dup (p.Leu337fs)
|
rs2123286013
|
|
NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter)
|
|
|
NM_000400.4(ERCC2):c.1024del (p.Trp342fs)
|
|
|
NM_000400.4(ERCC2):c.1230C>G (p.Tyr410Ter)
|
|
|
NM_000400.4(ERCC2):c.1293dup (p.Ile432fs)
|
|
|
NM_000400.4(ERCC2):c.1299_1303del (p.His434fs)
|
|
|
NM_000400.4(ERCC2):c.1307+1G>A
|
|
|
NM_000400.4(ERCC2):c.1347_1377+7del
|
|
|
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)
|
rs750123656
|
|
NM_000400.4(ERCC2):c.136dup (p.Thr46fs)
|
|
|
NM_000400.4(ERCC2):c.1377+1dup
|
|
|
NM_000400.4(ERCC2):c.1479+2T>C
|
|
|
NM_000400.4(ERCC2):c.1480-1G>C
|
|
|
NM_000400.4(ERCC2):c.1543+2_1543+33inv
|
|
|
NM_000400.4(ERCC2):c.1544-1G>T
|
|
|
NM_000400.4(ERCC2):c.1607_1613dup (p.Phe539fs)
|
|
|
NM_000400.4(ERCC2):c.1655G>A (p.Trp552Ter)
|
|
|
NM_000400.4(ERCC2):c.1663C>T (p.Gln555Ter)
|
|
|
NM_000400.4(ERCC2):c.1684C>T (p.Gln562Ter)
|
rs2123229548
|
|
NM_000400.4(ERCC2):c.1732_1741del (p.Ser578fs)
|
|
|
NM_000400.4(ERCC2):c.1752C>G (p.Tyr584Ter)
|
|
|
NM_000400.4(ERCC2):c.1759-2A>C
|
|
|
NM_000400.4(ERCC2):c.1793_1796dup (p.Ala600fs)
|
|
|
NM_000400.4(ERCC2):c.1805dup (p.Lys603fs)
|
|
|
NM_000400.4(ERCC2):c.1808_1809dup (p.Val604fs)
|
|
|
NM_000400.4(ERCC2):c.1832-1G>T
|
|
|
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)
|
rs376556895
|
|
NM_000400.4(ERCC2):c.1852_1871dup (p.Tyr625fs)
|
|
|
NM_000400.4(ERCC2):c.1865del (p.Gly622fs)
|
|
|
NM_000400.4(ERCC2):c.1934_1958dup (p.Thr653_Phe654insAspSerTer)
|
|
|
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
|
|
|
NM_000400.4(ERCC2):c.2005_2006del (p.Arg669fs)
|
|
|
NM_000400.4(ERCC2):c.2018_2019del (p.Asp673fs)
|
|
|
NM_000400.4(ERCC2):c.2023G>C (p.Gly675Arg)
|
|
|
NM_000400.4(ERCC2):c.2046+1G>T
|
rs774768228
|
|
NM_000400.4(ERCC2):c.2047-13_2048del
|
rs1327017125
|
|
NM_000400.4(ERCC2):c.2047-2A>C
|
|
|
NM_000400.4(ERCC2):c.2087G>A (p.Trp696Ter)
|
|
|
NM_000400.4(ERCC2):c.2092C>T (p.Gln698Ter)
|
rs1555775416
|
|
NM_000400.4(ERCC2):c.2145_2152del (p.Ala717fs)
|
|
|
NM_000400.4(ERCC2):c.2173G>A (p.Ala725Thr)
|
|
|
NM_000400.4(ERCC2):c.2190+1G>T
|
|
|
NM_000400.4(ERCC2):c.2191-2A>G
|
|
|
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
|
|
|
NM_000400.4(ERCC2):c.28_58dup (p.Glu20fs)
|
|
|
NM_000400.4(ERCC2):c.326_344del (p.Leu109fs)
|
|
|
NM_000400.4(ERCC2):c.402C>A (p.Cys134Ter)
|
|
|
NM_000400.4(ERCC2):c.478-2A>G
|
|
|
NM_000400.4(ERCC2):c.5+2T>A
|
rs1599753508
|
|
NM_000400.4(ERCC2):c.559C>T (p.Gln187Ter)
|
|
|
NM_000400.4(ERCC2):c.633C>G (p.Tyr211Ter)
|
|
|
NM_000400.4(ERCC2):c.79G>T (p.Glu27Ter)
|
|
|
NM_000400.4(ERCC2):c.815+1G>A
|
|
|
NM_000400.4(ERCC2):c.956dup (p.Pro320fs)
|
|
|
NM_000414.4(HSD17B4):c.1001del (p.Pro334fs)
|
|
|
NM_000414.4(HSD17B4):c.1021_1022insGTTGATT (p.Glu341delinsGlyTer)
|
|
|
NM_000414.4(HSD17B4):c.1092_1095del (p.Ile364fs)
|
|
|
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe)
|
rs1198548214
|
|
NM_000414.4(HSD17B4):c.1135_1136insACTGTCTC (p.Val379fs)
|
|
|
NM_000414.4(HSD17B4):c.1231_1232del (p.Leu411fs)
|
|
|
NM_000414.4(HSD17B4):c.1261+1G>T
|
|
|
NM_000414.4(HSD17B4):c.1262-1G>A
|
rs2126806430
|
|
NM_000414.4(HSD17B4):c.1262-1G>C
|
|
|
NM_000414.4(HSD17B4):c.1262-2A>G
|
rs1751692890
|
|
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs)
|
rs1057517045
|
|
NM_000414.4(HSD17B4):c.1328_1329del (p.Met443fs)
|
|
|
NM_000414.4(HSD17B4):c.1333+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
|
rs137853097
|
|
NM_000414.4(HSD17B4):c.1438-1G>A
|
rs1554067009
|
|
NM_000414.4(HSD17B4):c.1438-1G>C
|
|
|
NM_000414.4(HSD17B4):c.1438-2A>C
|
rs1057516273
|
|
NM_000414.4(HSD17B4):c.1449_1451delinsA (p.Ile484fs)
|
|
|
NM_000414.4(HSD17B4):c.1472_1473del (p.Ala491fs)
|
|
|
NM_000414.4(HSD17B4):c.1488del (p.Thr497fs)
|
|
|
NM_000414.4(HSD17B4):c.1496_1497del (p.Leu499fs)
|
|
|
NM_000414.4(HSD17B4):c.1503+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1504-1G>A
|
|
|
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
|
NM_000414.4(HSD17B4):c.1573+1G>T
|
|
|
NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)
|
|
|
NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)
|
|
|
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)
|
rs201009485
|
|
NM_000414.4(HSD17B4):c.1660_1661del (p.Ser554fs)
|
|
|
NM_000414.4(HSD17B4):c.167delinsCT (p.Asp56fs)
|
|
|
NM_000414.4(HSD17B4):c.1767G>A (p.Lys589=)
|
rs142527052
|
|
NM_000414.4(HSD17B4):c.179delinsTT (p.Glu60fs)
|
|
|
NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu)
|
rs1488399880
|
|
NM_000414.4(HSD17B4):c.241A>T (p.Lys81Ter)
|
|
|
NM_000414.4(HSD17B4):c.281-2A>G
|
rs1554062343
|
|
NM_000414.4(HSD17B4):c.290del (p.Val97fs)
|
|
|
NM_000414.4(HSD17B4):c.292A>G (p.Asn98Asp)
|
rs1561442127
|
|
NM_000414.4(HSD17B4):c.293A>T (p.Asn98Ile)
|
|
|
NM_000414.4(HSD17B4):c.294C>G (p.Asn98Lys)
|
|
|
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser)
|
rs1554062352
|
|
NM_000414.4(HSD17B4):c.350-1G>T
|
|
|
NM_000414.4(HSD17B4):c.358del (p.His120fs)
|
|
|
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp)
|
rs786205574
|
|
NM_000414.4(HSD17B4):c.370_376delinsGGA (p.Leu124fs)
|
|
|
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile)
|
rs1085307072
|
|
NM_000414.4(HSD17B4):c.466T>C (p.Tyr156His)
|
rs2126702600
|
|
NM_000414.4(HSD17B4):c.587C>A (p.Ala196Glu)
|
|
|
NM_000414.4(HSD17B4):c.59-1G>A
|
|
|
NM_000414.4(HSD17B4):c.625_631del (p.Leu209fs)
|
|
|
NM_000414.4(HSD17B4):c.638_639del (p.Leu213fs)
|
|
|
NM_000414.4(HSD17B4):c.639_648del (p.Lys214fs)
|
|
|
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)
|
rs1749878115
|
|
NM_000414.4(HSD17B4):c.652_656del (p.Val218fs)
|
|
|
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs)
|
rs2126740316
|
|
NM_000414.4(HSD17B4):c.714+1G>C
|
|
|
NM_000414.4(HSD17B4):c.715-1G>A
|
|
|
NM_000414.4(HSD17B4):c.739+1G>A
|
rs1561456373
|
|
NM_000414.4(HSD17B4):c.739+1G>T
|
|
|
NM_000414.4(HSD17B4):c.743G>T (p.Arg248Leu)
|
|
|
NM_000414.4(HSD17B4):c.752G>T (p.Arg251Leu)
|
|
|
NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)
|
|
|
NM_000414.4(HSD17B4):c.868+1del
|
rs749532705
|
|
NM_000414.4(HSD17B4):c.947_948del (p.Ala316fs)
|
|
|
NM_000426.4(LAMA2):c.1011del (p.Thr339fs)
|
|
|
NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter)
|
rs1778991422
|
|
NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter)
|
rs1436470033
|
|
NM_000426.4(LAMA2):c.1097T>A (p.Leu366Ter)
|
|
|
NM_000426.4(LAMA2):c.1195_1198del (p.Arg399fs)
|
|
|
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
|
|
|
NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter)
|
rs1779703136
|
|
NM_000426.4(LAMA2):c.1289_1290insT (p.Glu430fs)
|
|
|
NM_000426.4(LAMA2):c.1365del (p.Cys456fs)
|
|
|
NM_000426.4(LAMA2):c.1429A>T (p.Lys477Ter)
|
|
|
NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter)
|
rs1780700010
|
|
NM_000426.4(LAMA2):c.1467+2T>C
|
rs1554234163
|
|
NM_000426.4(LAMA2):c.1533_1534insG (p.Trp512fs)
|
|
|
NM_000426.4(LAMA2):c.1560T>A (p.Cys520Ter)
|
rs1781455687
|
|
NM_000426.4(LAMA2):c.1561_1562del (p.Ser521fs)
|
|
|
NM_000426.4(LAMA2):c.1612C>T (p.Gln538Ter)
|
rs1781592001
|
|
NM_000426.4(LAMA2):c.1629G>A (p.Trp543Ter)
|
|
|
NM_000426.4(LAMA2):c.1669del (p.Gln557fs)
|
|
|
NM_000426.4(LAMA2):c.1686_1687insA (p.Ser563fs)
|
|
|
NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter)
|
rs1781606569
|
|
NM_000426.4(LAMA2):c.1831G>T (p.Glu611Ter)
|
rs1786068382
|
|
NM_000426.4(LAMA2):c.1834G>T (p.Glu612Ter)
|
rs1786068836
|
|
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)
|
rs398123368
|
|
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)
|
rs746844753
|
|
NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter)
|
rs1231305572
|
|
NM_000426.4(LAMA2):c.1929_1931delinsT (p.His644fs)
|
|
|
NM_000426.4(LAMA2):c.1942G>T (p.Glu648Ter)
|
rs1786301728
|
|
NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter)
|
rs1042843028
|
|
NM_000426.4(LAMA2):c.2006_2012del (p.Val669fs)
|
|
|
NM_000426.4(LAMA2):c.2044A>T (p.Lys682Ter)
|
rs1786309995
|
|
NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter)
|
rs1787059737
|
|
NM_000426.4(LAMA2):c.2166dup (p.Val723fs)
|
|
|
NM_000426.4(LAMA2):c.2233dup (p.Val745fs)
|
|
|
NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter)
|
rs1787862380
|
|
NM_000426.4(LAMA2):c.2348del (p.Pro783fs)
|
|
|
NM_000426.4(LAMA2):c.2395G>T (p.Gly799Ter)
|
|
|
NM_000426.4(LAMA2):c.2400_2401insAGGAAGACATTTA (p.Ser801fs)
|
|
|
NM_000426.4(LAMA2):c.2404G>T (p.Glu802Ter)
|
|
|
NM_000426.4(LAMA2):c.2461_2476del (p.Thr821fs)
|
|
|
NM_000426.4(LAMA2):c.2471T>A (p.Leu824Ter)
|
|
|
NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter)
|
|
|
NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter)
|
rs1789386860
|
|
NM_000426.4(LAMA2):c.2587C>T (p.Gln863Ter)
|
rs897845923
|
|
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter)
|
rs1789395190
|
|
NM_000426.4(LAMA2):c.2670del (p.Lys890fs)
|
|
|
NM_000426.4(LAMA2):c.2703T>A (p.Cys901Ter)
|
rs1789398455
|
|
NM_000426.4(LAMA2):c.2710G>T (p.Gly904Ter)
|
rs1789399141
|
|
NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter)
|
rs1789399872
|
|
NM_000426.4(LAMA2):c.2749+1G>A
|
rs759555791
|
|
NM_000426.4(LAMA2):c.2776_2782del (p.Phe926fs)
|
|
|
NM_000426.4(LAMA2):c.2783_2784del (p.Glu928fs)
|
|
|
NM_000426.4(LAMA2):c.2811T>A (p.Cys937Ter)
|
|
|
NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter)
|
|
|
NM_000426.4(LAMA2):c.2877_2878dup (p.Ser960fs)
|
|
|
NM_000426.4(LAMA2):c.2879C>G (p.Ser960Ter)
|
|
|
NM_000426.4(LAMA2):c.2906G>A (p.Cys969Tyr)
|
rs2114451064
|
|
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
|
|
|
NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter)
|
rs1773282962
|
|
NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter)
|
rs1773283278
|
|
NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter)
|
rs1187391940
|
|
NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter)
|
rs1773502803
|
|
NM_000426.4(LAMA2):c.3139_3140insT (p.Asn1047fs)
|
|
|
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter)
|
rs1583447808
|
|
NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter)
|
rs944013929
|
|
NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter)
|
rs1774323015
|
|
NM_000426.4(LAMA2):c.3290_3291del (p.His1097fs)
|
|
|
NM_000426.4(LAMA2):c.3409A>T (p.Lys1137Ter)
|
|
|
NM_000426.4(LAMA2):c.3421del (p.Glu1141fs)
|
|
|
NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter)
|
rs1774465781
|
|
NM_000426.4(LAMA2):c.3626del (p.Gly1209fs)
|
|
|
NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter)
|
rs1774541313
|
|
NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)
|
|
|
NM_000426.4(LAMA2):c.3896T>A (p.Leu1299Ter)
|
|
|
NM_000426.4(LAMA2):c.389del (p.Leu130fs)
|
|
|
NM_000426.4(LAMA2):c.4106del (p.Thr1369fs)
|
|
|
NM_000426.4(LAMA2):c.4110delinsTTTTT (p.Met1370fs)
|
|
|
NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter)
|
rs1774908660
|
|
NM_000426.4(LAMA2):c.4146T>A (p.Cys1382Ter)
|
rs1774908820
|
|
NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs)
|
|
|
NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter)
|
rs1775300950
|
|
NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter)
|
|
|
NM_000426.4(LAMA2):c.4342T>C (p.Cys1448Arg)
|
|
|
NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter)
|
rs1776319116
|
|
NM_000426.4(LAMA2):c.4397_4398del (p.Cys1466fs)
|
|
|
NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter)
|
rs1776730034
|
|
NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter)
|
|
|
NM_000426.4(LAMA2):c.4561G>T (p.Gly1521Ter)
|
rs1776953529
|
|
NM_000426.4(LAMA2):c.4573C>T (p.Gln1525Ter)
|
rs1776953853
|
|
NM_000426.4(LAMA2):c.4576G>T (p.Glu1526Ter)
|
|
|
NM_000426.4(LAMA2):c.4601C>A (p.Ser1534Ter)
|
rs917205971
|
|
NM_000426.4(LAMA2):c.4752_4753del (p.Asp1585fs)
|
|
|
NM_000426.4(LAMA2):c.4819_4825del (p.Lys1607fs)
|
|
|
NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter)
|
rs1247084547
|
|
NM_000426.4(LAMA2):c.4913delinsAATAAAGAGAGACAGCA (p.Gly1638delinsGluTer)
|
|
|
NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter)
|
rs373997222
|
|
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter)
|
rs1778794887
|
|
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter)
|
rs1008335405
|
|
NM_000426.4(LAMA2):c.5062del (p.Asp1688fs)
|
|
|
NM_000426.4(LAMA2):c.507_508insCAAGAGA (p.Ala170fs)
|
|
|
NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter)
|
rs1779318396
|
|
NM_000426.4(LAMA2):c.512_513del (p.Val171fs)
|
|
|
NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter)
|
rs1779323338
|
|
NM_000426.4(LAMA2):c.5184del (p.Arg1729fs)
|
|
|
NM_000426.4(LAMA2):c.5235-1G>A
|
rs1779406142
|
|
NM_000426.4(LAMA2):c.5274del (p.Phe1758fs)
|
|
|
NM_000426.4(LAMA2):c.5284dup (p.Arg1762fs)
|
|
|
NM_000426.4(LAMA2):c.5568_5569delinsA (p.Glu1857fs)
|
|
|
NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter)
|
rs1165626901
|
|
NM_000426.4(LAMA2):c.5673_5674del (p.Gln1892fs)
|
|
|
NM_000426.4(LAMA2):c.5674C>T (p.Gln1892Ter)
|
rs1462522184
|
|
NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter)
|
rs1775311864
|
|
NM_000426.4(LAMA2):c.5836A>T (p.Lys1946Ter)
|
|
|
NM_000426.4(LAMA2):c.5851G>T (p.Glu1951Ter)
|
|
|
NM_000426.4(LAMA2):c.5866-1G>A
|
rs1064797040
|
|
NM_000426.4(LAMA2):c.5913_5914del (p.Gln1972fs)
|
|
|
NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter)
|
rs1781398399
|
|
NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter)
|
rs1775313883
|
|
NM_000426.4(LAMA2):c.6030_6031del (p.Asp2011fs)
|
|
|
NM_000426.4(LAMA2):c.6146_6147del (p.Lys2049fs)
|
|
|
NM_000426.4(LAMA2):c.6232A>T (p.Lys2078Ter)
|
|
|
NM_000426.4(LAMA2):c.6248_6249del (p.Val2083fs)
|
|
|
NM_000426.4(LAMA2):c.6262A>T (p.Lys2088Ter)
|
rs1782086229
|
|
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter)
|
rs1782333085
|
|
NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter)
|
rs1775315900
|
|
NM_000426.4(LAMA2):c.639+1del
|
|
|
NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter)
|
rs1782761474
|
|
NM_000426.4(LAMA2):c.6560del (p.Gly2187fs)
|
|
|
NM_000426.4(LAMA2):c.6643G>T (p.Gly2215Ter)
|
|
|
NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter)
|
|
|
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter)
|
rs1583790201
|
|
NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter)
|
rs1778273068
|
|
NM_000426.4(LAMA2):c.7126_7127insA (p.Leu2376fs)
|
|
|
NM_000426.4(LAMA2):c.7142delinsGT (p.Ala2381fs)
|
|
|
NM_000426.4(LAMA2):c.7215_7217delinsA (p.Ser2406fs)
|
|
|
NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter)
|
rs1783482812
|
|
NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs)
|
|
|
NM_000426.4(LAMA2):c.7296del (p.Lys2432fs)
|
|
|
NM_000426.4(LAMA2):c.731_732del (p.Arg244fs)
|
|
|
NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter)
|
rs1377818460
|
|
NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)
|
|
|
NM_000426.4(LAMA2):c.7489A>T (p.Lys2497Ter)
|
|
|
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)
|
rs1480934961
|
|
NM_000426.4(LAMA2):c.7521dup (p.Ile2508fs)
|
rs1583845651
|
|
NM_000426.4(LAMA2):c.7578_7579del (p.Tyr2527fs)
|
|
|
NM_000426.4(LAMA2):c.7583_7584del (p.Thr2528fs)
|
|
|
NM_000426.4(LAMA2):c.7621_7622insTA (p.Pro2541fs)
|
|
|
NM_000426.4(LAMA2):c.7658C>A (p.Ser2553Ter)
|
|
|
NM_000426.4(LAMA2):c.7675G>T (p.Glu2559Ter)
|
|
|
NM_000426.4(LAMA2):c.7750-2A>G
|
rs778539477
|
|
NM_000426.4(LAMA2):c.7771_7772delinsT (p.Asn2591fs)
|
|
|
NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter)
|
rs781316719
|
|
NM_000426.4(LAMA2):c.7834A>T (p.Arg2612Ter)
|
|
|
NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter)
|
rs1778283565
|
|
NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter)
|
rs1784882494
|
|
NM_000426.4(LAMA2):c.7976del (p.Lys2659fs)
|
|
|
NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter)
|
rs1784888496
|
|
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter)
|
rs1784919273
|
|
NM_000426.4(LAMA2):c.8206_8209del (p.Thr2736fs)
|
|
|
NM_000426.4(LAMA2):c.8312dup (p.Asn2771fs)
|
|
|
NM_000426.4(LAMA2):c.8377_8383del (p.Val2793fs)
|
|
|
NM_000426.4(LAMA2):c.8430_8431insAG (p.Ala2811fs)
|
|
|
NM_000426.4(LAMA2):c.8542del (p.His2848fs)
|
|
|
NM_000426.4(LAMA2):c.8597_8598insAA (p.Ser2867fs)
|
|
|
NM_000426.4(LAMA2):c.8603dup (p.Asn2868fs)
|
|
|
NM_000426.4(LAMA2):c.8712T>A (p.Tyr2904Ter)
|
|
|
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter)
|
rs1034133545
|
|
NM_000426.4(LAMA2):c.8781del (p.Ser2928fs)
|
|
|
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)
|
rs1554227092
|
|
NM_000426.4(LAMA2):c.966T>A (p.Cys322Ter)
|
|
|
NM_000441.2(SLC26A4):c.1001+1G>T
|
rs80338849
|
|
NM_000441.2(SLC26A4):c.1001+4A>G
|
rs1262298247
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
NM_000441.2(SLC26A4):c.1002-2A>G
|
|
|
NM_000441.2(SLC26A4):c.1002-4C>G
|
rs2129315781
|
|
NM_000441.2(SLC26A4):c.1002del
|
|
|
NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val)
|
rs111033212
|
|
NM_000441.2(SLC26A4):c.1015del (p.Glu339fs)
|
|
|
NM_000441.2(SLC26A4):c.103_104delinsGCTGCT (p.Gln35fs)
|
|
|
NM_000441.2(SLC26A4):c.107A>C (p.His36Pro)
|
|
|
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter)
|
rs121908361
|
|
NM_000441.2(SLC26A4):c.1150-1G>T
|
rs1791525285
|
|
NM_000441.2(SLC26A4):c.1154dup (p.Ile386fs)
|
|
|
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val)
|
rs777333979
|
|
NM_000441.2(SLC26A4):c.1172G>A (p.Ser391Asn)
|
|
|
NM_000441.2(SLC26A4):c.1173C>A (p.Ser391Arg)
|
rs1057517042
|
|
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.1191del (p.Phe398fs)
|
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)
|
rs397516414
|
|
NM_000441.2(SLC26A4):c.1216_1218delinsC (p.Ala406fs)
|
|
|
NM_000441.2(SLC26A4):c.1222del (p.Ser408fs)
|
rs886043058
|
|
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)
|
rs111033305
|
|
NM_000441.2(SLC26A4):c.1226G>T (p.Arg409Leu)
|
|
|
NM_000441.2(SLC26A4):c.1229C>A (p.Thr410Lys)
|
rs111033220
|
|
NM_000441.2(SLC26A4):c.1231G>A (p.Ala411Thr)
|
|
|
NM_000441.2(SLC26A4):c.1238del (p.Gln413fs)
|
rs1057516354
|
|
NM_000441.2(SLC26A4):c.1252G>T (p.Gly418Ter)
|
|
|
NM_000441.2(SLC26A4):c.1261C>T (p.Gln421Ter)
|
|
|
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)
|
rs201660407
|
|
NM_000441.2(SLC26A4):c.1263+1G>A
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1263+1G>T
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
NM_000441.2(SLC26A4):c.1264-3C>G
|
rs1562835391
|
|
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp)
|
rs1791675770
|
|
NM_000441.2(SLC26A4):c.1280C>A (p.Ser427Tyr)
|
rs765939287
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs)
|
rs1584292992
|
|
NM_000441.2(SLC26A4):c.1325T>C (p.Leu442Pro)
|
rs2129316904
|
|
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)
|
rs768471577
|
|
NM_000441.2(SLC26A4):c.1342-1G>T
|
rs1057517298
|
|
NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp)
|
rs747076316
|
|
NM_000441.2(SLC26A4):c.1343_1355dup (p.Val453fs)
|
rs1791686622
|
|
NM_000441.2(SLC26A4):c.1370A>T (p.Asn457Ile)
|
|
|
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)
|
rs1554359670
|
|
NM_000441.2(SLC26A4):c.1371C>G (p.Asn457Lys)
|
rs1554359670
|
|
NM_000441.2(SLC26A4):c.1375A>T (p.Lys459Ter)
|
|
|
NM_000441.2(SLC26A4):c.1377del (p.Met461fs)
|
|
|
NM_000441.2(SLC26A4):c.1411_1414del (p.Leu471fs)
|
|
|
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter)
|
rs1554359693
|
|
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)
|
rs201636911
|
|
NM_000441.2(SLC26A4):c.1437+2T>G
|
rs397516418
|
|
NM_000441.2(SLC26A4):c.1438-2A>G
|
rs1057516717
|
|
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp)
|
rs1314376649
|
|
NM_000441.2(SLC26A4):c.1449del (p.Phe484fs)
|
|
|
NM_000441.2(SLC26A4):c.1490del (p.Gly497fs)
|
|
|
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.1539_1544+6del
|
rs1057516535
|
|
NM_000441.2(SLC26A4):c.1544+1G>A
|
rs876657722
|
|
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)
|
rs786204450
|
|
NM_000441.2(SLC26A4):c.1549del (p.Ser517fs)
|
|
|
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter)
|
rs1562817529
|
|
NM_000441.2(SLC26A4):c.1552T>G (p.Trp518Gly)
|
rs2129317522
|
|
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter)
|
rs727503428
|
|
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)
|
rs1554360358
|
|
NM_000441.2(SLC26A4):c.1586T>C (p.Ile529Thr)
|
rs786204739
|
|
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)
|
rs786204739
|
|
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile)
|
rs1057516243
|
|
NM_000441.2(SLC26A4):c.1614+1G>C
|
rs111033312
|
|
NM_000441.2(SLC26A4):c.1614+1del
|
|
|
NM_000441.2(SLC26A4):c.1615-1G>T
|
|
|
NM_000441.2(SLC26A4):c.1615A>G (p.Ile539Val)
|
|
|
NM_000441.2(SLC26A4):c.1629del (p.Gly544fs)
|
|
|
NM_000441.2(SLC26A4):c.164+1del
|
rs786204504
|
|
NM_000441.2(SLC26A4):c.164+2T>A
|
rs397516420
|
|
NM_000441.2(SLC26A4):c.165-2A>G
|
rs786204458
|
|
NM_000441.2(SLC26A4):c.1656T>G (p.Ser552Arg)
|
rs2129317902
|
|
NM_000441.2(SLC26A4):c.1657C>T (p.Pro553Ser)
|
rs2129317904
|
|
NM_000441.2(SLC26A4):c.1673del (p.Asn558fs)
|
|
|
NM_000441.2(SLC26A4):c.1707+2T>C
|
rs1554360707
|
|
NM_000441.2(SLC26A4):c.1707+4_1707+7del
|
|
|
NM_000441.2(SLC26A4):c.1708-1G>T
|
rs759414956
|
|
NM_000441.2(SLC26A4):c.1708-27_1708-11del
|
rs1554360816
|
|
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter)
|
rs111033200
|
|
NM_000441.2(SLC26A4):c.1717G>C (p.Asp573His)
|
|
|
NM_000441.2(SLC26A4):c.1717G>T (p.Asp573Tyr)
|
|
|
NM_000441.2(SLC26A4):c.1730T>G (p.Val577Gly)
|
|
|
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs)
|
rs1554360841
|
|
NM_000441.2(SLC26A4):c.1765C>T (p.Gln589Ter)
|
|
|
NM_000441.2(SLC26A4):c.1790T>A (p.Leu597Ter)
|
|
|
NM_000441.2(SLC26A4):c.1802del (p.Lys601fs)
|
|
|
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
|
|
|
NM_000441.2(SLC26A4):c.1876G>T (p.Glu626Ter)
|
|
|
NM_000441.2(SLC26A4):c.1905_1906del (p.Glu635fs)
|
|
|
NM_000441.2(SLC26A4):c.1919G>A (p.Trp640Ter)
|
rs786204502
|
|
NM_000441.2(SLC26A4):c.1922del (p.Asn641fs)
|
rs1584337134
|
|
NM_000441.2(SLC26A4):c.1949T>A (p.Val650Asp)
|
rs1057517161
|
|
NM_000441.2(SLC26A4):c.1966del (p.His656fs)
|
rs1057516636
|
|
NM_000441.2(SLC26A4):c.196A>T (p.Lys66Ter)
|
|
|
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
|
rs2129318281
|
|
NM_000441.2(SLC26A4):c.2026del (p.Leu676fs)
|
rs2129318299
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2034+1G>A
|
rs759683649
|
|
NM_000441.2(SLC26A4):c.2035-2A>C
|
|
|
NM_000441.2(SLC26A4):c.2035-2A>G
|
|
|
NM_000441.2(SLC26A4):c.203T>C (p.Leu68Pro)
|
|
|
NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs)
|
|
|
NM_000441.2(SLC26A4):c.2062_2071del (p.Val688fs)
|
|
|
NM_000441.2(SLC26A4):c.2067del (p.Asn689fs)
|
rs1057516796
|
|
NM_000441.2(SLC26A4):c.2069T>A (p.Val690Glu)
|
rs2129318790
|
|
NM_000441.2(SLC26A4):c.2089+1G>T
|
|
|
NM_000441.2(SLC26A4):c.2089+2T>A
|
rs1554361624
|
|
NM_000441.2(SLC26A4):c.208C>T (p.Pro70Ser)
|
|
|
NM_000441.2(SLC26A4):c.2109_2110del (p.Glu704fs)
|
|
|
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)
|
rs786204523
|
|
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)
|
rs397516427
|
|
NM_000441.2(SLC26A4):c.2162C>A (p.Thr721Lys)
|
rs121908363
|
|
NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs)
|
rs1298217152
|
|
NM_000441.2(SLC26A4):c.2184_2187del (p.Leu729fs)
|
|
|
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter)
|
rs727503431
|
|
NM_000441.2(SLC26A4):c.2215dup (p.Gln739fs)
|
|
|
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)
|
rs111033310
|
|
NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter)
|
|
|
NM_000441.2(SLC26A4):c.2235+2T>C
|
rs1554362815
|
|
NM_000441.2(SLC26A4):c.2248C>T (p.Gln750Ter)
|
|
|
NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu)
|
rs1345175795
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_000441.2(SLC26A4):c.255del (p.Ser86fs)
|
|
|
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)
|
rs370588279
|
|
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)
|
rs1057516953
|
|
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu)
|
rs2129309208
|
|
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)
|
rs111033241
|
|
NM_000441.2(SLC26A4):c.304+2T>C
|
rs746238617
|
|
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)
|
rs1219724284
|
|
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser)
|
rs1409565648
|
|
NM_000441.2(SLC26A4):c.338del (p.Val113fs)
|
|
|
NM_000441.2(SLC26A4):c.346G>A (p.Gly116Ser)
|
|
|
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)
|
rs786204730
|
|
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)
|
rs984967571
|
|
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)
|
rs121908365
|
|
NM_000441.2(SLC26A4):c.401G>C (p.Arg134Thr)
|
rs1790889845
|
|
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)
|
rs111033199
|
|
NM_000441.2(SLC26A4):c.412_415+21delinsTGACA
|
|
|
NM_000441.2(SLC26A4):c.413T>A (p.Val138Asp)
|
rs1790890770
|
|
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala)
|
rs756272252
|
|
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
|
rs756272252
|
|
NM_000441.2(SLC26A4):c.42del (p.Glu15fs)
|
rs1562817224
|
|
NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr)
|
rs1554354787
|
|
NM_000441.2(SLC26A4):c.454del (p.Val152fs)
|
rs1554354801
|
|
NM_000441.2(SLC26A4):c.460_461del (p.Ser154fs)
|
|
|
NM_000441.2(SLC26A4):c.518dup (p.Thr174fs)
|
|
|
NM_000441.2(SLC26A4):c.555_556del (p.Arg185fs)
|
|
|
NM_000441.2(SLC26A4):c.584T>C (p.Leu195Pro)
|
|
|
NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp)
|
|
|
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)
|
rs111033380
|
|
NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter)
|
|
|
NM_000441.2(SLC26A4):c.617T>A (p.Leu206Ter)
|
rs2129311933
|
|
NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter)
|
rs1057516678
|
|
NM_000441.2(SLC26A4):c.642del (p.Leu215fs)
|
|
|
NM_000441.2(SLC26A4):c.701C>A (p.Ser234Ter)
|
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000441.2(SLC26A4):c.71G>T (p.Arg24Leu)
|
rs1349370504
|
|
NM_000441.2(SLC26A4):c.737del (p.Asn246fs)
|
rs918684449
|
|
NM_000441.2(SLC26A4):c.745_749dup (p.Leu251fs)
|
rs750365180
|
|
NM_000441.2(SLC26A4):c.765+2T>C
|
rs397516432
|
|
NM_000441.2(SLC26A4):c.765+3A>C
|
rs483353048
|
|
NM_000441.2(SLC26A4):c.765+3A>T
|
rs483353048
|
|
NM_000441.2(SLC26A4):c.765_765+3del
|
rs756076960
|
|
NM_000441.2(SLC26A4):c.78_79del (p.Tyr27fs)
|
|
|
NM_000441.2(SLC26A4):c.839del (p.Val280fs)
|
|
|
NM_000441.2(SLC26A4):c.858_865del (p.Lys286_Glu287insTer)
|
rs1057517246
|
|
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)
|
rs111033205
|
|
NM_000441.2(SLC26A4):c.87G>C (p.Glu29Asp)
|
rs1554352240
|
|
NM_000441.2(SLC26A4):c.882_883del (p.His294fs)
|
rs2129314494
|
|
NM_000441.2(SLC26A4):c.890del (p.Pro297fs)
|
rs786204600
|
|
NM_000441.2(SLC26A4):c.915del (p.Ile305fs)
|
|
|
NM_000441.2(SLC26A4):c.918+1G>T
|
rs111033245
|
|
NM_000441.2(SLC26A4):c.919-19_932del
|
rs1554357206
|
|
NM_000441.2(SLC26A4):c.[2168A>G;2326C>G]
|
|
|
NM_000466.3(PEX1):c.1074_1075del (p.Lys359fs)
|
rs1057517488
|
|
NM_000466.3(PEX1):c.1076del (p.Lys359fs)
|
rs1057517465
|
|
NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter)
|
|
|
NM_000466.3(PEX1):c.1108del (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.1131del (p.Asp378fs)
|
rs886043479
|
|
NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer)
|
rs1057517520
|
|
NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter)
|
|
|
NM_000466.3(PEX1):c.1239+1G>A
|
rs756876301
|
|
NM_000466.3(PEX1):c.129+1G>A
|
rs2116298327
|
|
NM_000466.3(PEX1):c.130-1G>C
|
rs1028247729
|
|
NM_000466.3(PEX1):c.130-2A>T
|
rs1585260993
|
|
NM_000466.3(PEX1):c.1321del (p.Ile441fs)
|
|
|
NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter)
|
rs1585248089
|
|
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs)
|
rs1792596054
|
|
NM_000466.3(PEX1):c.1359+1G>C
|
|
|
NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter)
|
|
|
NM_000466.3(PEX1):c.1374_1375delinsA (p.Ser458fs)
|
|
|
NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter)
|
rs1554373801
|
|
NM_000466.3(PEX1):c.1439del (p.Leu480fs)
|
rs1554373787
|
|
NM_000466.3(PEX1):c.1468_1469del (p.Leu490fs)
|
|
|
NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter)
|
|
|
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs)
|
rs786204743
|
|
NM_000466.3(PEX1):c.1522dup (p.Glu508fs)
|
rs1057517463
|
|
NM_000466.3(PEX1):c.1527del (p.Glu510fs)
|
rs1057517497
|
|
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)
|
rs754983126
|
|
NM_000466.3(PEX1):c.1533del (p.Asp512fs)
|
rs2116205361
|
|
NM_000466.3(PEX1):c.1552_1553delinsA (p.Leu518fs)
|
|
|
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
|
|
|
NM_000466.3(PEX1):c.1587+1G>A
|
rs1057517469
|
|
NM_000466.3(PEX1):c.1587+1G>T
|
|
|
NM_000466.3(PEX1):c.1587+2T>C
|
rs1554373578
|
|
NM_000466.3(PEX1):c.1611del (p.Glu538fs)
|
|
|
NM_000466.3(PEX1):c.1670+1G>A
|
rs1057517490
|
|
NM_000466.3(PEX1):c.1670+1G>T
|
rs1057517490
|
|
NM_000466.3(PEX1):c.1696_1697del (p.Ser566fs)
|
|
|
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)
|
rs786204606
|
|
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)
|
rs370483961
|
|
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del)
|
rs1554372756
|
|
NM_000466.3(PEX1):c.175_176del (p.Ser59fs)
|
|
|
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)
|
rs1057517489
|
|
NM_000466.3(PEX1):c.1769_1770del (p.Leu590fs)
|
|
|
NM_000466.3(PEX1):c.1793_1803+1del
|
rs2116180739
|
|
NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter)
|
|
|
NM_000466.3(PEX1):c.1815dup (p.Ser606fs)
|
|
|
NM_000466.3(PEX1):c.1817C>A (p.Ser606Ter)
|
|
|
NM_000466.3(PEX1):c.1822_1823del (p.Leu608fs)
|
|
|
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)
|
rs1554372561
|
|
NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter)
|
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter)
|
|
|
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)
|
rs1398892633
|
|
NM_000466.3(PEX1):c.1890del (p.Ala631fs)
|
rs2116175944
|
|
NM_000466.3(PEX1):c.1895del (p.Leu632fs)
|
|
|
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)
|
rs61750409
|
|
NM_000466.3(PEX1):c.1900+1G>A
|
rs770447891
|
|
NM_000466.3(PEX1):c.1900+2T>C
|
rs1562857198
|
|
NM_000466.3(PEX1):c.1901-1G>T
|
|
|
NM_000466.3(PEX1):c.1901-2A>G
|
|
|
NM_000466.3(PEX1):c.1908del (p.Arg636fs)
|
rs1057517478
|
|
NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter)
|
rs1057517464
|
|
NM_000466.3(PEX1):c.1926_1927delinsC (p.Lys642fs)
|
rs1057517529
|
|
NM_000466.3(PEX1):c.1927del (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1927dup (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1961_1962insCAGTGTGAA (p.Met654delinsIleSerValLys)
|
|
|
NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs)
|
rs1057517486
|
|
NM_000466.3(PEX1):c.1A>C (p.Met1Leu)
|
rs1057517501
|
|
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)
|
rs61750412
|
|
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
|
|
|
NM_000466.3(PEX1):c.2071+2T>C
|
rs1478905473
|
|
NM_000466.3(PEX1):c.2072-1G>A
|
|
|
NM_000466.3(PEX1):c.2072-42_2085del
|
rs1792018845
|
|
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)
|
rs1057517468
|
|
NM_000466.3(PEX1):c.2142_2143del (p.Gln715fs)
|
|
|
NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs)
|
rs1057517499
|
|
NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter)
|
|
|
NM_000466.3(PEX1):c.2212_2213del (p.Gln738fs)
|
|
|
NM_000466.3(PEX1):c.2227-1G>C
|
|
|
NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter)
|
|
|
NM_000466.3(PEX1):c.2280_2281insG (p.Ile761fs)
|
|
|
NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs)
|
|
|
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)
|
rs61750414
|
|
NM_000466.3(PEX1):c.2417-1G>T
|
|
|
NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter)
|
rs1306607552
|
|
NM_000466.3(PEX1):c.2488_2489dup (p.Asn830fs)
|
rs1554370868
|
|
NM_000466.3(PEX1):c.2489dup (p.Asn830fs)
|
rs1554370868
|
|
NM_000466.3(PEX1):c.249_250insT (p.Leu84fs)
|
rs1793076195
|
|
NM_000466.3(PEX1):c.253G>T (p.Gly85Ter)
|
|
|
NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter)
|
rs1057517470
|
|
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)
|
rs886043984
|
|
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)
|
rs1057517485
|
|
NM_000466.3(PEX1):c.2718+1G>A
|
|
|
NM_000466.3(PEX1):c.2719-2A>G
|
rs1554369234
|
|
NM_000466.3(PEX1):c.2723del (p.Pro908fs)
|
rs1057517503
|
|
NM_000466.3(PEX1):c.273+1G>A
|
rs1554376597
|
|
NM_000466.3(PEX1):c.273+2T>G
|
|
|
NM_000466.3(PEX1):c.2760del (p.Ala921fs)
|
rs1256376226
|
|
NM_000466.3(PEX1):c.2770dup (p.Asp924fs)
|
|
|
NM_000466.3(PEX1):c.2783+2T>C
|
rs1585224312
|
|
NM_000466.3(PEX1):c.2784-1G>C
|
|
|
NM_000466.3(PEX1):c.2798dup (p.Pro934fs)
|
rs1057517484
|
|
NM_000466.3(PEX1):c.2822_2823del (p.Glu941fs)
|
rs2116095487
|
|
NM_000466.3(PEX1):c.2849dup (p.His951fs)
|
|
|
NM_000466.3(PEX1):c.2852dup (p.His951fs)
|
rs767877383
|
|
NM_000466.3(PEX1):c.2859dup (p.Thr954fs)
|
rs1057517472
|
|
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)
|
rs1057517481
|
|
NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)
|
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_000466.3(PEX1):c.2922del (p.Leu974fs)
|
rs762324548
|
|
NM_000466.3(PEX1):c.2927-2A>G
|
rs1057517531
|
|
NM_000466.3(PEX1):c.2932dup (p.Tyr978fs)
|
|
|
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)
|
rs61750428
|
|
NM_000466.3(PEX1):c.2T>G (p.Met1Arg)
|
rs766020928
|
|
NM_000466.3(PEX1):c.3003del (p.Lys1001fs)
|
|
|
NM_000466.3(PEX1):c.3031-1G>A
|
|
|
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)
|
rs1484321655
|
|
NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs)
|
|
|
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)
|
rs954814470
|
|
NM_000466.3(PEX1):c.3115del (p.Thr1039fs)
|
rs1562846257
|
|
NM_000466.3(PEX1):c.3207+1G>C
|
rs267608181
|
|
NM_000466.3(PEX1):c.3207+2C>A
|
rs1554368097
|
|
NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs)
|
rs1057517509
|
|
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
|
|
|
NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs)
|
|
|
NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)
|
|
|
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)
|
rs886043558
|
|
NM_000466.3(PEX1):c.3308del (p.Gly1103fs)
|
|
|
NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)
|
|
|
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)
|
rs1585214453
|
|
NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer)
|
rs1554367358
|
|
NM_000466.3(PEX1):c.3422del (p.Gly1141fs)
|
|
|
NM_000466.3(PEX1):c.3438+1G>A
|
rs1554367284
|
|
NM_000466.3(PEX1):c.3438+1G>T
|
rs1554367284
|
|
NM_000466.3(PEX1):c.3439-2A>G
|
|
|
NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)
|
|
|
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.3455_3456dup (p.Ala1153fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.348G>A (p.Trp116Ter)
|
rs1057517487
|
|
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter)
|
rs1057517480
|
|
NM_000466.3(PEX1):c.357+1G>A
|
rs866144313
|
|
NM_000466.3(PEX1):c.357+1G>C
|
rs866144313
|
|
NM_000466.3(PEX1):c.357+1G>T
|
rs866144313
|
|
NM_000466.3(PEX1):c.357+202_1170del
|
|
|
NM_000466.3(PEX1):c.3573del (p.Glu1191fs)
|
rs1585211048
|
|
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)
|
rs1057517467
|
|
NM_000466.3(PEX1):c.358-1G>T
|
rs1057517479
|
|
NM_000466.3(PEX1):c.358-2A>C
|
rs1057517500
|
|
NM_000466.3(PEX1):c.358-2A>G
|
rs1057517500
|
|
NM_000466.3(PEX1):c.3580_3581del (p.Asp1194fs)
|
rs1160117945
|
|
NM_000466.3(PEX1):c.3622del (p.Arg1208fs)
|
rs1791174009
|
|
NM_000466.3(PEX1):c.3626del (p.Ser1209fs)
|
rs1554366766
|
|
NM_000466.3(PEX1):c.3637-1G>A
|
|
|
NM_000466.3(PEX1):c.3637-3_3637-1del
|
rs2116039871
|
|
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
|
rs769836601
|
|
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu)
|
rs1473858573
|
|
NM_000466.3(PEX1):c.3G>A (p.Met1Ile)
|
rs786204704
|
|
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)
|
rs201415996
|
|
NM_000466.3(PEX1):c.431dup (p.Val145fs)
|
rs1057517506
|
|
NM_000466.3(PEX1):c.472+1G>A
|
rs762852144
|
|
NM_000466.3(PEX1):c.473-1G>A
|
rs1554375661
|
|
NM_000466.3(PEX1):c.473-1G>C
|
rs1554375661
|
|
NM_000466.3(PEX1):c.484C>A (p.Pro162Thr)
|
|
|
NM_000466.3(PEX1):c.496del (p.Tyr166fs)
|
|
|
NM_000466.3(PEX1):c.510_511insGTTATAAAATTTAT (p.Thr171fs)
|
|
|
NM_000466.3(PEX1):c.512_513delinsTTTAAACAAGCACTTCAAA (p.Thr171delinsIleTer)
|
|
|
NM_000466.3(PEX1):c.532_533del (p.Gln178fs)
|
|
|
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)
|
rs1554375599
|
|
NM_000466.3(PEX1):c.56_80del (p.Val19fs)
|
rs1793398751
|
|
NM_000466.3(PEX1):c.573del (p.Ala192fs)
|
rs1585255490
|
|
NM_000466.3(PEX1):c.629_630delinsA (p.Met210fs)
|
|
|
NM_000466.3(PEX1):c.643_647del (p.Thr215fs)
|
rs786204544
|
|
NM_000466.3(PEX1):c.659C>A (p.Ser220Ter)
|
|
|
NM_000466.3(PEX1):c.66dup (p.Asn23fs)
|
|
|
NM_000466.3(PEX1):c.716C>G (p.Ser239Ter)
|
|
|
NM_000466.3(PEX1):c.734del (p.Leu245fs)
|
rs1057517522
|
|
NM_000466.3(PEX1):c.757_758delinsA (p.Phe253fs)
|
|
|
NM_000466.3(PEX1):c.760dup (p.Ser254fs)
|
rs1554375511
|
|
NM_000466.3(PEX1):c.805_806del (p.Glu269fs)
|
|
|
NM_000466.3(PEX1):c.892_895dup (p.Asn299delinsIleTer)
|
rs1057517505
|
|
NM_000466.3(PEX1):c.911_912del (p.Ser304fs)
|
rs786204638
|
|
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del
|
|
|
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs)
|
rs1554391033
|
|
NM_000492.3(CFTR):c.2909_2924dup
|
|
|
NM_000492.3(CFTR):c.[2816A>G;2846A>T]
|
|
|
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)
|
rs397508137
|
|
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)
|
rs397508139
|
|
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del)
|
rs397508141
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)
|
rs397508146
|
|
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro)
|
rs1562892293
|
|
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys)
|
rs76879328
|
|
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys)
|
rs75053309
|
|
NM_000492.4(CFTR):c.1116G>T (p.Gln372His)
|
rs1584789514
|
|
NM_000492.4(CFTR):c.1117-2A>G
|
rs1554381596
|
|
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter)
|
rs2115882158
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)
|
|
|
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)
|
rs1554381605
|
|
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter)
|
rs193922498
|
|
NM_000492.4(CFTR):c.1171G>T (p.Glu391Ter)
|
|
|
NM_000492.4(CFTR):c.1171_1209+6del
|
|
|
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1209+1G>T
|
rs397508176
|
|
NM_000492.4(CFTR):c.1209+2T>A
|
|
|
NM_000492.4(CFTR):c.1209G>A (p.Glu403=)
|
rs397508177
|
|
NM_000492.4(CFTR):c.1209G>T (p.Glu403Asp)
|
|
|
NM_000492.4(CFTR):c.1210-1G>C
|
rs397508178
|
|
NM_000492.4(CFTR):c.1210-2_1210-1del
|
rs1562894926
|
|
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)
|
rs766063304
|
|
NM_000492.4(CFTR):c.1244del (p.Asn415fs)
|
|
|
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs)
|
rs1562895066
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1333_1336del (p.Asn445fs)
|
rs749854099
|
|
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe)
|
rs397508195
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1368del (p.Ala457fs)
|
|
|
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)
|
rs1554382664
|
|
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val)
|
rs121909009
|
|
NM_000492.4(CFTR):c.1373del (p.Gly458fs)
|
rs397508196
|
|
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)
|
rs151020603
|
|
NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu)
|
rs1799216615
|
|
NM_000492.4(CFTR):c.1391A>C (p.Lys464Thr)
|
rs1584793633
|
|
NM_000492.4(CFTR):c.1392+1G>A
|
rs397508197
|
|
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn)
|
rs397508198
|
|
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)
|
rs121908805
|
|
NM_000492.4(CFTR):c.13C>T (p.Pro5Ser)
|
|
|
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)
|
rs397508204
|
|
NM_000492.4(CFTR):c.1415dup (p.Met472fs)
|
rs1554384343
|
|
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)
|
rs756206533
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
NM_000492.4(CFTR):c.1447A>T (p.Lys483Ter)
|
rs1799418948
|
|
NM_000492.4(CFTR):c.1469del (p.Phe490fs)
|
rs775663783
|
|
NM_000492.4(CFTR):c.1472_1482del (p.Cys491fs)
|
|
|
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
|
|
|
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
|
|
|
NM_000492.4(CFTR):c.1488G>A (p.Trp496Ter)
|
rs200626971
|
|
NM_000492.4(CFTR):c.14C>G (p.Pro5Arg)
|
|
|
NM_000492.4(CFTR):c.1502C>T (p.Thr501Ile)
|
rs1799421850
|
|
NM_000492.4(CFTR):c.1505T>A (p.Ile502Asn)
|
rs397508222
|
|
NM_000492.4(CFTR):c.1505T>G (p.Ile502Ser)
|
rs397508222
|
|
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)
|
rs1800091
|
|
NM_000492.4(CFTR):c.1517T>A (p.Ile506Asn)
|
|
|
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)
|
rs1800092
|
|
NM_000492.4(CFTR):c.1519A>T (p.Ile507Phe)
|
rs1801178
|
|
NM_000492.4(CFTR):c.1525G>C (p.Gly509Arg)
|
rs1562898465
|
|
NM_000492.4(CFTR):c.1526G>T (p.Gly509Val)
|
|
|
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)
|
rs397508225
|
|
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter)
|
rs1799425190
|
|
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly)
|
rs397508226
|
|
NM_000492.4(CFTR):c.1546_1548delinsT (p.Arg516fs)
|
rs1562898489
|
|
NM_000492.4(CFTR):c.1547_1550del (p.Arg516fs)
|
|
|
NM_000492.4(CFTR):c.1550A>G (p.Tyr517Cys)
|
rs1562898496
|
|
NM_000492.4(CFTR):c.1559T>A (p.Val520Asp)
|
rs1562898510
|
|
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)
|
rs1554384440
|
|
NM_000492.4(CFTR):c.1579G>T (p.Glu527Ter)
|
|
|
NM_000492.4(CFTR):c.1584+1G>T
|
rs397508230
|
|
NM_000492.4(CFTR):c.1584+2T>C
|
rs397508231
|
|
NM_000492.4(CFTR):c.1585-2A>G
|
rs397508233
|
|
NM_000492.4(CFTR):c.1585-2A>T
|
rs397508233
|
|
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)
|
|
|
NM_000492.4(CFTR):c.1622T>C (p.Leu541Pro)
|
|
|
NM_000492.4(CFTR):c.164+1G>C
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+1G>T
|
rs397508243
|
|
NM_000492.4(CFTR):c.164+2T>A
|
rs121908800
|
|
NM_000492.4(CFTR):c.164+2dup
|
rs1554375870
|
|
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)
|
rs121909013
|
|
NM_000492.4(CFTR):c.1652G>T (p.Gly551Val)
|
rs75527207
|
|
NM_000492.4(CFTR):c.1652del (p.Gly551fs)
|
rs397508252
|
|
NM_000492.4(CFTR):c.1654C>A (p.Gln552Lys)
|
rs76554633
|
|
NM_000492.4(CFTR):c.1663A>T (p.Arg555Ter)
|
|
|
NM_000492.4(CFTR):c.1672_1673del (p.Leu558fs)
|
|
|
NM_000492.4(CFTR):c.1673T>A (p.Leu558Ter)
|
|
|
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
|
|
|
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)
|
rs80055610
|
|
NM_000492.4(CFTR):c.1680-1G>C
|
rs121908794
|
|
NM_000492.4(CFTR):c.1680-877G>T
|
rs397508261
|
|
NM_000492.4(CFTR):c.1680-883A>G
|
rs1554388867
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
NM_000492.4(CFTR):c.1688A>G (p.Tyr563Cys)
|
|
|
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)
|
rs397508273
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)
|
rs121909025
|
|
NM_000492.4(CFTR):c.1731C>A (p.Tyr577Ter)
|
rs55928397
|
|
NM_000492.4(CFTR):c.1733T>C (p.Leu578Pro)
|
|
|
NM_000492.4(CFTR):c.1735G>C (p.Asp579His)
|
|
|
NM_000492.4(CFTR):c.1735_1736del (p.Asp579fs)
|
|
|
NM_000492.4(CFTR):c.1760T>C (p.Phe587Ser)
|
rs1562907260
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1766+1G>T
|
rs121908748
|
|
NM_000492.4(CFTR):c.1766+2T>A
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1766+2T>C
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1766+3A>C
|
rs397508298
|
|
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile)
|
rs397508300
|
|
NM_000492.4(CFTR):c.1767-1G>A
|
rs1554389241
|
|
NM_000492.4(CFTR):c.1767-2A>G
|
|
|
NM_000492.4(CFTR):c.1778_1779del (p.Lys593fs)
|
|
|
NM_000492.4(CFTR):c.179_180del (p.Glu60fs)
|
rs1584776308
|
|
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)
|
rs397508306
|
|
NM_000492.4(CFTR):c.1801del (p.Ile601fs)
|
rs1792031758
|
|
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)
|
rs397508308
|
|
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)
|
rs121908777
|
|
NM_000492.4(CFTR):c.1822del (p.Glu608fs)
|
|
|
NM_000492.4(CFTR):c.1825C>T (p.His609Tyr)
|
rs2116030305
|
|
NM_000492.4(CFTR):c.1826A>T (p.His609Leu)
|
rs397508310
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1861G>T (p.Glu621Ter)
|
rs1792033327
|
|
NM_000492.4(CFTR):c.1867_1869delinsG (p.Ser623fs)
|
|
|
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
|
|
|
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)
|
rs1554389290
|
|
NM_000492.4(CFTR):c.1893_1897del (p.Glu632fs)
|
|
|
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs)
|
rs1584812217
|
|
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter)
|
rs1792036190
|
|
NM_000492.4(CFTR):c.1970del (p.Arg657fs)
|
rs2116030992
|
|
NM_000492.4(CFTR):c.1973del (p.Arg658fs)
|
|
|
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter)
|
rs1562907896
|
|
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)
|
rs397508327
|
|
NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser)
|
rs1177201180
|
|
NM_000492.4(CFTR):c.1997T>A (p.Leu666Ter)
|
rs1792036942
|
|
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter)
|
rs397508333
|
|
NM_000492.4(CFTR):c.2044del (p.Thr682fs)
|
rs1554389346
|
|
NM_000492.4(CFTR):c.206T>G (p.Leu69Arg)
|
|
|
NM_000492.4(CFTR):c.217del (p.Leu73fs)
|
rs397508348
|
|
NM_000492.4(CFTR):c.2203del (p.Arg735fs)
|
rs397508351
|
|
NM_000492.4(CFTR):c.221G>C (p.Arg74Pro)
|
|
|
NM_000492.4(CFTR):c.2241del (p.Ile748fs)
|
|
|
NM_000492.4(CFTR):c.2283dup (p.Gln762fs)
|
|
|
NM_000492.4(CFTR):c.2379del (p.Val794fs)
|
|
|
NM_000492.4(CFTR):c.2395C>T (p.Gln799Ter)
|
rs984281283
|
|
NM_000492.4(CFTR):c.2410G>T (p.Glu804Ter)
|
rs1792049376
|
|
NM_000492.4(CFTR):c.2426C>A (p.Ser809Ter)
|
rs1457971953
|
|
NM_000492.4(CFTR):c.2429del (p.Arg810fs)
|
rs1057516236
|
|
NM_000492.4(CFTR):c.2455G>T (p.Glu819Ter)
|
rs1792051187
|
|
NM_000492.4(CFTR):c.2464G>A (p.Glu822Lys)
|
rs397508378
|
|
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs)
|
rs1554389486
|
|
NM_000492.4(CFTR):c.2483dup (p.Asp828fs)
|
rs1057517276
|
|
NM_000492.4(CFTR):c.2490+827_2620-3551del
|
|
|
NM_000492.4(CFTR):c.2491-2A>C
|
rs397508386
|
|
NM_000492.4(CFTR):c.253G>T (p.Gly85Ter)
|
rs1584776437
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2617G>T (p.Glu873Ter)
|
rs1792100143
|
|
NM_000492.4(CFTR):c.2620-2A>G
|
rs1554390859
|
|
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)
|
rs397508412
|
|
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs)
|
rs1554390864
|
|
NM_000492.4(CFTR):c.2646G>A (p.Trp882Ter)
|
rs1792246412
|
|
NM_000492.4(CFTR):c.2658-1G>C
|
rs397508416
|
|
NM_000492.4(CFTR):c.269T>A (p.Leu90Ter)
|
rs397508421
|
|
NM_000492.4(CFTR):c.273+3A>C
|
rs74467662
|
|
NM_000492.4(CFTR):c.273G>C (p.Gly91=)
|
rs773739166
|
|
NM_000492.4(CFTR):c.274-1G>C
|
rs121908792
|
|
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter)
|
rs1408746819
|
|
NM_000492.4(CFTR):c.2768C>A (p.Ala923Asp)
|
rs193922509
|
|
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)
|
rs397508432
|
|
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)
|
rs397508435
|
|
NM_000492.4(CFTR):c.2816A>G (p.His939Arg)
|
rs397508440
|
|
NM_000492.4(CFTR):c.2822del (p.Leu941fs)
|
rs762844777
|
|
NM_000492.4(CFTR):c.2824del (p.Ile942fs)
|
|
|
NM_000492.4(CFTR):c.283A>T (p.Lys95Ter)
|
|
|
NM_000492.4(CFTR):c.2854del (p.Met952fs)
|
rs1057517032
|
|
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile)
|
rs151048781
|
|
NM_000492.4(CFTR):c.2875del (p.Ala959fs)
|
rs397508447
|
|
NM_000492.4(CFTR):c.2891_2892delinsA (p.Leu964fs)
|
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
NM_000492.4(CFTR):c.2908+1G>A
|
rs1060503164
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.2909-2A>T
|
|
|
NM_000492.4(CFTR):c.2916_2952del (p.Ile972fs)
|
rs1554391454
|
|
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro)
|
rs137975784
|
|
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)
|
rs193922514
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
|
|
|
NM_000492.4(CFTR):c.2982_2988+2del
|
rs1554391489
|
|
NM_000492.4(CFTR):c.2986dup (p.Gln996fs)
|
rs1554391491
|
|
NM_000492.4(CFTR):c.2988+1G>C
|
rs75096551
|
|
NM_000492.4(CFTR):c.2989-1G>A
|
rs397508470
|
|
NM_000492.4(CFTR):c.2989-2A>T
|
rs193922515
|
|
NM_000492.4(CFTR):c.2993del (p.Leu998fs)
|
rs1057516415
|
|
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)
|
rs397508472
|
|
NM_000492.4(CFTR):c.3000_3014del (p.Val1001_Ile1005del)
|
|
|
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del)
|
rs1562914072
|
|
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)
|
rs397508479
|
|
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs)
|
rs1792366769
|
|
NM_000492.4(CFTR):c.3022del (p.Val1008fs)
|
rs397508482
|
|
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)
|
rs193922516
|
|
NM_000492.4(CFTR):c.305T>C (p.Leu102Pro)
|
rs397508490
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)
|
rs397508491
|
|
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del)
|
rs1554392027
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)
|
rs756219310
|
|
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)
|
rs397508496
|
|
NM_000492.4(CFTR):c.3106A>G (p.Thr1036Ala)
|
|
|
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)
|
rs397508498
|
|
NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)
|
|
|
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr)
|
rs1584821736
|
|
NM_000492.4(CFTR):c.3139+1del
|
rs780546355
|
|
NM_000492.4(CFTR):c.3140-11A>G
|
|
|
NM_000492.4(CFTR):c.3140-1G>A
|
rs397508506
|
|
NM_000492.4(CFTR):c.3168del (p.Thr1057fs)
|
|
|
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)
|
rs121909036
|
|
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu)
|
rs121909019
|
|
NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro)
|
rs78769542
|
|
NM_000492.4(CFTR):c.320C>G (p.Ala107Gly)
|
|
|
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)
|
rs397508520
|
|
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)
|
rs79635528
|
|
NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro)
|
rs771259493
|
|
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)
|
rs397508522
|
|
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)
|
rs397508523
|
|
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter)
|
rs150020260
|
|
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)
|
rs397508528
|
|
NM_000492.4(CFTR):c.327T>G (p.Tyr109Ter)
|
rs397508528
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)
|
rs397508531
|
|
NM_000492.4(CFTR):c.3293G>T (p.Trp1098Leu)
|
|
|
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)
|
rs397508533
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
|
|
|
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu)
|
rs1584822486
|
|
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)
|
rs397508541
|
|
NM_000492.4(CFTR):c.3324del (p.Ile1109fs)
|
rs1554392282
|
|
NM_000492.4(CFTR):c.332del (p.Pro111fs)
|
rs2116670123
|
|
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3357_3359delinsA (p.Leu1120fs)
|
|
|
NM_000492.4(CFTR):c.3367+1G>A
|
rs1470125842
|
|
NM_000492.4(CFTR):c.3367+1G>T
|
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3368-2A>T
|
rs755416052
|
|
NM_000492.4(CFTR):c.3389_3402del (p.Gly1130fs)
|
|
|
NM_000492.4(CFTR):c.3398_3399del (p.Leu1133fs)
|
|
|
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)
|
rs397508555
|
|
NM_000492.4(CFTR):c.3428T>A (p.Leu1143Ter)
|
|
|
NM_000492.4(CFTR):c.3434G>C (p.Trp1145Ser)
|
|
|
NM_000492.4(CFTR):c.3468+1G>A
|
rs1554392798
|
|
NM_000492.4(CFTR):c.3468+1G>T
|
rs1554392798
|
|
NM_000492.4(CFTR):c.3469-1G>C
|
|
|
NM_000492.4(CFTR):c.3469-2A>C
|
|
|
NM_000492.4(CFTR):c.3469-2A>G
|
rs397508570
|
|
NM_000492.4(CFTR):c.3469-52_3717+5032dup
|
|
|
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)
|
rs397508571
|
|
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)
|
rs397508573
|
|
NM_000492.4(CFTR):c.3493_3494delinsT (p.Lys1165fs)
|
|
|
NM_000492.4(CFTR):c.3495del (p.Lys1165fs)
|
rs1057516970
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3529A>T (p.Lys1177Ter)
|
rs397508578
|
|
NM_000492.4(CFTR):c.3530del (p.Lys1177fs)
|
rs397508579
|
|
NM_000492.4(CFTR):c.3533C>A (p.Ser1178Ter)
|
rs1057516609
|
|
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs)
|
rs121908782
|
|
NM_000492.4(CFTR):c.3547A>T (p.Lys1183Ter)
|
|
|
NM_000492.4(CFTR):c.3567dup (p.Val1190fs)
|
|
|
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs)
|
rs1562919371
|
|
NM_000492.4(CFTR):c.3587C>A (p.Ser1196Ter)
|
rs121908763
|
|
NM_000492.4(CFTR):c.3602del (p.Asp1201fs)
|
|
|
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)
|
rs397508588
|
|
NM_000492.4(CFTR):c.3623del (p.Gly1208fs)
|
rs35396083
|
|
NM_000492.4(CFTR):c.3661_3662del (p.Glu1221fs)
|
|
|
NM_000492.4(CFTR):c.3682G>T (p.Glu1228Ter)
|
rs759116351
|
|
NM_000492.4(CFTR):c.3691del (p.Ser1231fs)
|
rs77035409
|
|
NM_000492.4(CFTR):c.370G>C (p.Gly124Arg)
|
rs193922519
|
|
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter)
|
rs121908766
|
|
NM_000492.4(CFTR):c.3717+1G>A
|
rs750558115
|
|
NM_000492.4(CFTR):c.3717+40A>G
|
rs397508595
|
|
NM_000492.4(CFTR):c.3717+4A>G
|
rs387906362
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000492.4(CFTR):c.3718-24_3873+601del
|
rs1554395323
|
|
NM_000492.4(CFTR):c.3718-3T>G
|
rs397508596
|
|
NM_000492.4(CFTR):c.3718-5_3725del
|
rs2116166586
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val)
|
rs267606723
|
|
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg)
|
rs397508601
|
|
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)
|
rs121909041
|
|
NM_000492.4(CFTR):c.3782_3783del (p.Leu1261fs)
|
|
|
NM_000492.4(CFTR):c.3793G>A (p.Gly1265Arg)
|
|
|
NM_000492.4(CFTR):c.3793G>T (p.Gly1265Ter)
|
|
|
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter)
|
rs1584837090
|
|
NM_000492.4(CFTR):c.3809A>T (p.Asp1270Val)
|
|
|
NM_000492.4(CFTR):c.380_382dup (p.Leu127dup)
|
rs193922521
|
|
NM_000492.4(CFTR):c.3836T>A (p.Leu1279Ter)
|
|
|
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)
|
rs397508615
|
|
NM_000492.4(CFTR):c.3845G>A (p.Trp1282Ter)
|
rs1792935619
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.3851_3852dup (p.Ala1285fs)
|
rs1057517404
|
|
NM_000492.4(CFTR):c.3873+1G>T
|
rs143570767
|
|
NM_000492.4(CFTR):c.3873+2T>C
|
rs146795445
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.3874-2A>C
|
rs1554396384
|
|
NM_000492.4(CFTR):c.3874-2A>G
|
rs1554396384
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter)
|
rs397508645
|
|
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs)
|
rs754392413
|
|
NM_000492.4(CFTR):c.3949A>T (p.Lys1317Ter)
|
rs1793110279
|
|
NM_000492.4(CFTR):c.3957_3958insAGGG (p.Asp1320fs)
|
rs193922523
|
|
NM_000492.4(CFTR):c.3963+1G>C
|
rs672601314
|
|
NM_000492.4(CFTR):c.3963+1G>T
|
|
|
NM_000492.4(CFTR):c.3963+2T>G
|
rs397508650
|
|
NM_000492.4(CFTR):c.3964-1_3964delinsTT
|
|
|
NM_000492.4(CFTR):c.396del (p.Ile132fs)
|
rs1798854379
|
|
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)
|
rs1057516457
|
|
NM_000492.4(CFTR):c.3997G>T (p.Gly1333Trp)
|
rs193922524
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.4007_4010del (p.Asp1336fs)
|
|
|
NM_000492.4(CFTR):c.4023del (p.Asp1341fs)
|
|
|
NM_000492.4(CFTR):c.4032T>A (p.Cys1344Ter)
|
|
|
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs)
|
rs1554397497
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
NM_000492.4(CFTR):c.4046del (p.Gly1349fs)
|
rs1793342111
|
|
NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter)
|
rs751098333
|
|
NM_000492.4(CFTR):c.405_406dup (p.Leu136fs)
|
rs1554379846
|
|
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs)
|
rs397508668
|
|
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)
|
rs397508675
|
|
NM_000492.4(CFTR):c.4136+1G>A
|
rs1562928997
|
|
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)
|
rs397508686
|
|
NM_000492.4(CFTR):c.4143C>G (p.Tyr1381Ter)
|
rs397508683
|
|
NM_000492.4(CFTR):c.416A>T (p.His139Leu)
|
rs76371115
|
|
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer)
|
rs397508693
|
|
NM_000492.4(CFTR):c.4199del (p.Cys1400fs)
|
rs1554397593
|
|
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp)
|
rs397508700
|
|
NM_000492.4(CFTR):c.4242+1G>A
|
rs372227120
|
|
NM_000492.4(CFTR):c.4242+2T>C
|
rs193922526
|
|
NM_000492.4(CFTR):c.4242+5G>A
|
rs1562929196
|
|
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter)
|
rs397508707
|
|
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter)
|
rs1800135
|
|
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)
|
rs1800135
|
|
NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr)
|
rs193922528
|
|
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)
|
rs750559671
|
|
NM_000492.4(CFTR):c.42del (p.Lys14fs)
|
rs397508710
|
|
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)
|
rs397508709
|
|
NM_000492.4(CFTR):c.4312del (p.Arg1438fs)
|
|
|
NM_000492.4(CFTR):c.4329del (p.Ser1444fs)
|
rs1554397769
|
|
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer)
|
rs1554397772
|
|
NM_000492.4(CFTR):c.4345_*486delinsTTG (p.Phe1450_Ter1481del)
|
|
|
NM_000492.4(CFTR):c.4364C>A (p.Ser1455Ter)
|
rs121909043
|
|
NM_000492.4(CFTR):c.4389del (p.Ile1464fs)
|
rs1584850283
|
|
NM_000492.4(CFTR):c.4400_*34del (p.Leu1467_Ter1481delinsXaa)
|
rs1562929636
|
|
NM_000492.4(CFTR):c.4400del (p.Leu1467fs)
|
rs1562929633
|
|
NM_000492.4(CFTR):c.4408G>T (p.Glu1470Ter)
|
|
|
NM_000492.4(CFTR):c.441_442del (p.Ile148fs)
|
|
|
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg)
|
rs753173837
|
|
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)
|
rs35516286
|
|
NM_000492.4(CFTR):c.4443G>C (p.Ter1481Tyr)
|
|
|
NM_000492.4(CFTR):c.445G>T (p.Gly149Ter)
|
rs397508718
|
|
NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
|
NM_000492.4(CFTR):c.480_483del (p.Tyr161fs)
|
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
NM_000492.4(CFTR):c.488A>T (p.Lys163Met)
|
rs1562889435
|
|
NM_000492.4(CFTR):c.488del (p.Lys163fs)
|
rs1554379899
|
|
NM_000492.4(CFTR):c.489+2T>C
|
rs397508732
|
|
NM_000492.4(CFTR):c.489+43_580-354del
|
|
|
NM_000492.4(CFTR):c.490-1G>C
|
|
|
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)
|
rs397508736
|
|
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
|
|
|
NM_000492.4(CFTR):c.502_503del (p.Ser168fs)
|
|
|
NM_000492.4(CFTR):c.506dup (p.Ser169fs)
|
rs1554380311
|
|
NM_000492.4(CFTR):c.520_530del (p.Lys174fs)
|
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.53+1005T>G
|
|
|
NM_000492.4(CFTR):c.53+1G>T
|
rs397508746
|
|
NM_000492.4(CFTR):c.53+2T>C
|
|
|
NM_000492.4(CFTR):c.531dup (p.Gly178fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)
|
rs397508748
|
|
NM_000492.4(CFTR):c.534_538del (p.Gln179fs)
|
|
|
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)
|
rs397508753
|
|
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys)
|
rs397508755
|
|
NM_000492.4(CFTR):c.56G>A (p.Trp19Ter)
|
rs1057516232
|
|
NM_000492.4(CFTR):c.574G>T (p.Asp192Tyr)
|
|
|
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly)
|
rs397508758
|
|
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
|
rs397508759
|
|
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)
|
rs397508759
|
|
NM_000492.4(CFTR):c.578_579+5del
|
rs397508760
|
|
NM_000492.4(CFTR):c.57G>T (p.Trp19Cys)
|
rs397508762
|
|
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)
|
rs376008630
|
|
NM_000492.4(CFTR):c.598T>A (p.Phe200Ile)
|
rs397508766
|
|
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg)
|
rs397508769
|
|
NM_000492.4(CFTR):c.617T>A (p.Leu206Ter)
|
|
|
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter)
|
rs397508771
|
|
NM_000492.4(CFTR):c.657dup (p.Gln220fs)
|
rs1554380465
|
|
NM_000492.4(CFTR):c.662del (p.Ala221fs)
|
rs2116676645
|
|
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu)
|
rs397508784
|
|
NM_000492.4(CFTR):c.719T>G (p.Leu240Arg)
|
|
|
NM_000492.4(CFTR):c.71T>A (p.Leu24Ter)
|
|
|
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs)
|
rs1057517342
|
|
NM_000492.4(CFTR):c.741C>A (p.Tyr247Ter)
|
rs1800082
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.742A>T (p.Arg248Ter)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.743+1G>C
|
rs397508791
|
|
NM_000492.4(CFTR):c.743+2T>C
|
rs1584787119
|
|
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)
|
rs397508792
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
|
|
NM_000492.4(CFTR):c.744-9_744-2delinsTACG
|
|
|
NM_000492.4(CFTR):c.748C>T (p.Gln250Ter)
|
|
|
NM_000492.4(CFTR):c.751A>T (p.Arg251Ter)
|
rs1798959540
|
|
NM_000492.4(CFTR):c.772del (p.Arg258fs)
|
|
|
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)
|
rs397508796
|
|
NM_000492.4(CFTR):c.811del (p.Ser271fs)
|
rs1554380789
|
|
NM_000492.4(CFTR):c.817A>T (p.Lys273Ter)
|
rs1296578005
|
|
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)
|
rs397508799
|
|
NM_000492.4(CFTR):c.835G>T (p.Glu279Ter)
|
rs1199914684
|
|
NM_000492.4(CFTR):c.850dup (p.Met284fs)
|
rs786204693
|
|
NM_000492.4(CFTR):c.865A>T (p.Arg289Ter)
|
rs1057516619
|
|
NM_000492.4(CFTR):c.869+1G>C
|
rs1330431481
|
|
NM_000492.4(CFTR):c.869+3A>T
|
rs1554380828
|
|
NM_000492.4(CFTR):c.870-1113_870-1110del
|
rs397508809
|
|
NM_000492.4(CFTR):c.870-1G>C
|
rs1351058559
|
|
NM_000492.4(CFTR):c.888_889dup (p.Arg297fs)
|
rs1057516387
|
|
NM_000492.4(CFTR):c.915_916del (p.Phe305fs)
|
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000492.4(CFTR):c.930del (p.Phe311fs)
|
rs1584789226
|
|
NM_000492.4(CFTR):c.931T>C (p.Phe311Leu)
|
rs2116683801
|
|
NM_000492.4(CFTR):c.941G>T (p.Gly314Val)
|
rs75763344
|
|
NM_000492.4(CFTR):c.950T>A (p.Val317Glu)
|
rs1204521684
|
|
NM_000492.4(CFTR):c.962del (p.Ser321fs)
|
|
|
NM_000492.4(CFTR):c.97G>T (p.Glu33Ter)
|
|
|
NM_000492.4(CFTR):c.[1209+1988_1392+2067inv;1392+2072_1392+2074del]
|
|
|
NM_000492.4:c.(1209+1_1210-1)_(1392+1_1393-1)del
|
|
|
NM_000492.4:c.(1392+1_1393-1)_(1584+1_1585-1)del
|
|
|
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)del
|
|
|
NM_000492.4:c.(3428+1_3469-1)_(3717+1_3718-1)dup
|
|
|
NM_000492.4:c.(3468+1_3469-1)_(3873+1_3874-1)del
|
|
|
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)delins186
|
|
|
NM_000506.5(F2):c.1070A>G (p.Glu357Gly)
|
rs2134533215
|
|
NM_000506.5(F2):c.1094T>A (p.Val365Glu)
|
rs747234596
|
|
NM_000506.5(F2):c.1270G>A (p.Val424Met)
|
rs1310397756
|
|
NM_000506.5(F2):c.1496G>A (p.Gly499Glu)
|
rs2134537035
|
|
NM_000506.5(F2):c.1745G>A (p.Trp582Ter)
|
|
|
NM_000506.5(F2):c.422+1G>A
|
|
|
NM_000506.5(F2):c.995G>C (p.Gly332Ala)
|
rs2134532862
|
|
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)
|
rs33946267
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
NM_000518.5(HBB):c.205C>T (p.Leu69Phe)
|
rs33961459
|
|
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs)
|
rs1337406718
|
|
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs)
|
rs1953591118
|
|
NM_000525.4(KCNJ11):c.290dup (p.His97fs)
|
rs1554901854
|
|
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs)
|
rs1554901829
|
|
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs)
|
rs557160758
|
|
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter)
|
rs587783669
|
|
NM_000525.4(KCNJ11):c.718dup (p.Met240fs)
|
rs1554901718
|
|
NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs)
|
rs1554901690
|
|
NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter)
|
rs1564865232
|
|
NM_000543.4:c.777_778ins8
|
|
|
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter)
|
rs1470998208
|
|
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys)
|
rs281860668
|
|
NM_000543.5(SMPD1):c.1076C>T (p.Ala359Val)
|
rs797044800
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.1090A>G (p.Arg364Gly)
|
rs1242180535
|
|
NM_000543.5(SMPD1):c.1091+1G>A
|
rs1847955457
|
|
NM_000543.5(SMPD1):c.1091G>A (p.Arg364Lys)
|
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)
|
|
|
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs)
|
rs1422720020
|
|
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
|
|
|
NM_000543.5(SMPD1):c.1105T>C (p.Tyr369His)
|
rs1848014133
|
|
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs)
|
rs786204514
|
|
NM_000543.5(SMPD1):c.1112T>C (p.Leu371Pro)
|
rs2134017039
|
|
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
|
|
|
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
|
|
|
NM_000543.5(SMPD1):c.1132C>T (p.Arg378Cys)
|
rs369088417
|
|
NM_000543.5(SMPD1):c.1144C>G (p.Leu382Val)
|
|
|
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe)
|
rs281860666
|
|
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs)
|
rs1057516432
|
|
NM_000543.5(SMPD1):c.114del (p.Leu39fs)
|
rs886043098
|
|
NM_000543.5(SMPD1):c.1152del (p.Met384fs)
|
|
|
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser)
|
rs120074123
|
|
NM_000543.5(SMPD1):c.1154A>T (p.Asn385Ile)
|
|
|
NM_000543.5(SMPD1):c.1167T>G (p.Arg389=)
|
rs1162794351
|
|
NM_000543.5(SMPD1):c.122_128del (p.Leu41fs)
|
|
|
NM_000543.5(SMPD1):c.1233G>C (p.Glu411Asp)
|
rs34555120
|
|
NM_000543.5(SMPD1):c.1263+1G>A
|
rs2134018090
|
|
NM_000543.5(SMPD1):c.1264-1G>A
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.1264-1G>C
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.1264-1G>T
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.1264-2A>G
|
rs774309925
|
|
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser)
|
rs1554935136
|
|
NM_000543.5(SMPD1):c.1279C>A (p.His427Asn)
|
rs760930408
|
|
NM_000543.5(SMPD1):c.1279C>T (p.His427Tyr)
|
|
|
NM_000543.5(SMPD1):c.1280A>T (p.His427Leu)
|
rs794727629
|
|
NM_000543.5(SMPD1):c.1280_1286del (p.His427fs)
|
|
|
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu)
|
rs281860669
|
|
NM_000543.5(SMPD1):c.1288C>G (p.Pro430Ala)
|
|
|
NM_000543.5(SMPD1):c.1288C>T (p.Pro430Ser)
|
rs140688153
|
|
NM_000543.5(SMPD1):c.1289C>T (p.Pro430Leu)
|
|
|
NM_000543.5(SMPD1):c.1299_1302del (p.His432_Cys433insTer)
|
rs1057517390
|
|
NM_000543.5(SMPD1):c.1340+2T>C
|
|
|
NM_000543.5(SMPD1):c.1340+2T>G
|
rs1301641750
|
|
NM_000543.5(SMPD1):c.1340+2_1340+9del
|
|
|
NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys)
|
rs2134019797
|
|
NM_000543.5(SMPD1):c.1341-10_1429dup
|
rs1554935254
|
|
NM_000543.5(SMPD1):c.1341-1G>T
|
rs1057516854
|
|
NM_000543.5(SMPD1):c.1341-21_1341-18del
|
|
|
NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp)
|
|
|
NM_000543.5(SMPD1):c.1373del (p.Gly458fs)
|
rs1554935273
|
|
NM_000543.5(SMPD1):c.1375C>T (p.His459Tyr)
|
rs1848060631
|
|
NM_000543.5(SMPD1):c.1376A>G (p.His459Arg)
|
rs1848060729
|
|
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro)
|
rs794727705
|
|
NM_000543.5(SMPD1):c.1379del (p.Thr460fs)
|
rs1554935285
|
|
NM_000543.5(SMPD1):c.1393T>C (p.Phe465Leu)
|
rs1258231226
|
|
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser)
|
rs1319643225
|
|
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu)
|
rs1848061944
|
|
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys)
|
rs267607074
|
|
NM_000543.5(SMPD1):c.1426C>G (p.Arg476Gly)
|
rs182812968
|
|
NM_000543.5(SMPD1):c.1429C>A (p.Pro477Thr)
|
rs2134021440
|
|
NM_000543.5(SMPD1):c.1430C>A (p.Pro477Gln)
|
rs753508874
|
|
NM_000543.5(SMPD1):c.1431del (p.Leu478fs)
|
|
|
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)
|
rs267607075
|
|
NM_000543.5(SMPD1):c.1457G>A (p.Ser486Asn)
|
rs2134021618
|
|
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)
|
rs281860665
|
|
NM_000543.5(SMPD1):c.1481A>T (p.Asn494Ile)
|
|
|
NM_000543.5(SMPD1):c.1482T>A (p.Asn494Lys)
|
|
|
NM_000543.5(SMPD1):c.1486+5G>C
|
|
|
NM_000543.5(SMPD1):c.1487-1G>A
|
rs2134022652
|
|
NM_000543.5(SMPD1):c.1489T>C (p.Tyr497His)
|
rs1848079553
|
|
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)
|
rs281860676
|
|
NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter)
|
rs1554935439
|
|
NM_000543.5(SMPD1):c.1492C>A (p.Arg498Ser)
|
|
|
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)
|
rs120074117
|
|
NM_000543.5(SMPD1):c.1493G>C (p.Arg498Pro)
|
rs120074117
|
|
NM_000543.5(SMPD1):c.1497_1498del (p.Tyr500fs)
|
rs1057517200
|
|
NM_000543.5(SMPD1):c.1508A>T (p.Asp503Val)
|
|
|
NM_000543.5(SMPD1):c.1518C>A (p.Tyr506Ter)
|
rs943924098
|
|
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter)
|
rs943924098
|
|
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)
|
rs1057516949
|
|
NM_000543.5(SMPD1):c.1526G>C (p.Ser509Thr)
|
rs764772735
|
|
NM_000543.5(SMPD1):c.1543del (p.Asp515fs)
|
|
|
NM_000543.5(SMPD1):c.1546C>T (p.His516Tyr)
|
|
|
NM_000543.5(SMPD1):c.1547A>T (p.His516Leu)
|
|
|
NM_000543.5(SMPD1):c.1553C>T (p.Thr518Ile)
|
rs752679988
|
|
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys)
|
rs371837210
|
|
NM_000543.5(SMPD1):c.156_157del (p.Arg53fs)
|
|
|
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln)
|
rs199915216
|
|
NM_000543.5(SMPD1):c.1603T>C (p.Trp535Arg)
|
rs1554935555
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.1627G>T (p.Glu543Ter)
|
rs756031857
|
|
NM_000543.5(SMPD1):c.1638del (p.Leu547fs)
|
rs2134023610
|
|
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs)
|
rs1554935600
|
|
NM_000543.5(SMPD1):c.1665G>A (p.Trp555Ter)
|
rs1554935610
|
|
NM_000543.5(SMPD1):c.168G>A (p.Trp56Ter)
|
rs1057516722
|
|
NM_000543.5(SMPD1):c.168_169del (p.Trp56fs)
|
|
|
NM_000543.5(SMPD1):c.1693G>T (p.Asp565Tyr)
|
|
|
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser)
|
rs2134024060
|
|
NM_000543.5(SMPD1):c.1719G>A (p.Trp573Ter)
|
|
|
NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)
|
|
|
NM_000543.5(SMPD1):c.1748C>A (p.Ser583Ter)
|
rs373940701
|
|
NM_000543.5(SMPD1):c.175del (p.Ala59fs)
|
rs2134006179
|
|
NM_000543.5(SMPD1):c.1783C>G (p.Leu595Val)
|
rs2134024349
|
|
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.1786T>C (p.Cys596Arg)
|
rs1848099174
|
|
NM_000543.5(SMPD1):c.1804del (p.Arg602fs)
|
rs1848099900
|
|
NM_000543.5(SMPD1):c.1817del (p.Pro606fs)
|
rs1554935746
|
|
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)
|
|
|
NM_000543.5(SMPD1):c.1829G>A (p.Arg610His)
|
|
|
NM_000543.5(SMPD1):c.193del (p.Ser65fs)
|
rs1057517098
|
|
NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter)
|
rs1057516931
|
|
NM_000543.5(SMPD1):c.19_26dup (p.Gln10fs)
|
|
|
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)
|
rs1205990349
|
|
NM_000543.5(SMPD1):c.290T>C (p.Leu97Pro)
|
rs1847878243
|
|
NM_000543.5(SMPD1):c.295_296del (p.Thr99fs)
|
|
|
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)
|
rs751269562
|
|
NM_000543.5(SMPD1):c.318+2T>A
|
rs1225462507
|
|
NM_000543.5(SMPD1):c.318+2T>C
|
rs1225462507
|
|
NM_000543.5(SMPD1):c.319-2A>G
|
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro)
|
rs1554934109
|
|
NM_000543.5(SMPD1):c.390_411del (p.Ala131fs)
|
|
|
NM_000543.5(SMPD1):c.39del (p.Arg14fs)
|
rs2134004594
|
|
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)
|
rs797044797
|
|
NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer)
|
rs1057517086
|
|
NM_000543.5(SMPD1):c.436del (p.Glu146fs)
|
|
|
NM_000543.5(SMPD1):c.442_446del (p.Trp148fs)
|
|
|
NM_000543.5(SMPD1):c.448_449insTAGGAAGCCGTAAA (p.Arg150fs)
|
|
|
NM_000543.5(SMPD1):c.450_453delinsTCTCCTTT (p.Ser151fs)
|
|
|
NM_000543.5(SMPD1):c.451_452del (p.Val152fs)
|
|
|
NM_000543.5(SMPD1):c.464C>G (p.Pro155Arg)
|
rs1369175943
|
|
NM_000543.5(SMPD1):c.469G>A (p.Glu157Lys)
|
rs2134009384
|
|
NM_000543.5(SMPD1):c.476G>A (p.Cys159Tyr)
|
|
|
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)
|
rs780134410
|
|
NM_000543.5(SMPD1):c.505dup (p.His169fs)
|
rs781535659
|
|
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)
|
rs786204733
|
|
NM_000543.5(SMPD1):c.528del (p.Ser175_Trp176insTer)
|
rs1554934210
|
|
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter)
|
rs1428487333
|
|
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)
|
rs786204694
|
|
NM_000543.5(SMPD1):c.56del (p.Gln19fs)
|
rs1554933746
|
|
NM_000543.5(SMPD1):c.581del (p.Pro194fs)
|
rs748165078
|
|
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)
|
rs748165078
|
|
NM_000543.5(SMPD1):c.597del (p.Val200fs)
|
|
|
NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile)
|
|
|
NM_000543.5(SMPD1):c.611T>A (p.Leu204His)
|
rs2134010621
|
|
NM_000543.5(SMPD1):c.614_647del (p.Phe205fs)
|
rs1554934309
|
|
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)
|
rs1554933751
|
|
NM_000543.5(SMPD1):c.620C>A (p.Thr207Asn)
|
rs1847921260
|
|
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
|
|
|
NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)
|
|
|
NM_000543.5(SMPD1):c.634G>C (p.Asp212His)
|
rs772889728
|
|
NM_000543.5(SMPD1):c.647del (p.Leu216fs)
|
|
|
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly)
|
rs1847923379
|
|
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg)
|
rs1564923612
|
|
NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser)
|
|
|
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe)
|
rs1847925080
|
|
NM_000543.5(SMPD1):c.722del (p.Pro241fs)
|
|
|
NM_000543.5(SMPD1):c.725G>A (p.Gly242Asp)
|
rs1057435197
|
|
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter)
|
rs120074122
|
|
NM_000543.5(SMPD1):c.731G>A (p.Gly244Glu)
|
|
|
NM_000543.5(SMPD1):c.731G>C (p.Gly244Ala)
|
rs2134011288
|
|
NM_000543.5(SMPD1):c.740G>A (p.Gly247Asp)
|
rs1590739350
|
|
NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn)
|
|
|
NM_000543.5(SMPD1):c.750C>A (p.Ser250Arg)
|
rs1423504237
|
|
NM_000543.5(SMPD1):c.754T>C (p.Cys252Arg)
|
rs1847929817
|
|
NM_000543.5(SMPD1):c.766dup (p.Leu256fs)
|
rs1018556947
|
|
NM_000543.5(SMPD1):c.778G>T (p.Glu260Ter)
|
rs1554934406
|
|
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
|
rs794727252
|
|
NM_000543.5(SMPD1):c.797T>C (p.Leu266Pro)
|
rs1847932355
|
|
NM_000543.5(SMPD1):c.827A>G (p.Tyr276Cys)
|
rs1847934777
|
|
NM_000543.5(SMPD1):c.840C>G (p.Asp280Glu)
|
rs2134011919
|
|
NM_000543.5(SMPD1):c.867del (p.Thr290fs)
|
|
|
NM_000543.5(SMPD1):c.881A>G (p.Gln294Arg)
|
rs1847939431
|
|
NM_000543.5(SMPD1):c.893T>C (p.Leu298Pro)
|
rs1847940504
|
|
NM_000543.5(SMPD1):c.910C>G (p.Leu304Val)
|
rs2134012389
|
|
NM_000543.5(SMPD1):c.910C>T (p.Leu304Phe)
|
rs2134012389
|
|
NM_000543.5(SMPD1):c.938_939delinsTGGTGGGCCAGCATGGT (p.Pro313delinsLeuValGlyGlnHisGly)
|
rs2134012580
|
|
NM_000543.5(SMPD1):c.941T>C (p.Val314Ala)
|
|
|
NM_000543.5(SMPD1):c.955G>A (p.Gly319Ser)
|
rs757934797
|
|
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)
|
rs757934797
|
|
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter)
|
rs1554933780
|
|
NM_000543.5(SMPD1):c.961C>T (p.His321Tyr)
|
rs2134012749
|
|
NM_000543.5(SMPD1):c.963del (p.His321fs)
|
|
|
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)
|
rs786204506
|
|
NM_000543.5(SMPD1):c.973C>T (p.Pro325Ser)
|
|
|
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
|
|
|
NM_000543.5(SMPD1):c.994C>T (p.Pro332Ser)
|
|
|
NM_000543.5(SMPD1):c.994_995delinsG (p.Pro332fs)
|
rs1057517345
|
|
NM_000543.5(SMPD1):c.995C>A (p.Pro332His)
|
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu)
|
rs202081954
|
|
NM_000553.6(WRN):c.1012_1018del (p.Val338fs)
|
rs2130118911
|
|
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs)
|
rs1563338855
|
|
NM_000553.6(WRN):c.111G>C (p.Lys37Asn)
|
|
|
NM_000553.6(WRN):c.1161_1163delinsAG (p.Met387fs)
|
|
|
NM_000553.6(WRN):c.1165del (p.Arg389fs)
|
rs878854131
|
|
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)
|
|
|
NM_000553.6(WRN):c.1350+1G>A
|
rs752202315
|
|
NM_000553.6(WRN):c.1350+1G>C
|
|
|
NM_000553.6(WRN):c.1350+1G>T
|
rs752202315
|
|
NM_000553.6(WRN):c.1351-1_1351delinsTT
|
rs1813480415
|
|
NM_000553.6(WRN):c.1351-2A>G
|
rs1563341296
|
|
NM_000553.6(WRN):c.1372G>T (p.Glu458Ter)
|
|
|
NM_000553.6(WRN):c.1432-2A>G
|
|
|
NM_000553.6(WRN):c.1432-2A>T
|
rs1389423879
|
|
NM_000553.6(WRN):c.1432-2_1433del
|
|
|
NM_000553.6(WRN):c.1519G>T (p.Glu507Ter)
|
|
|
NM_000553.6(WRN):c.1576+1G>A
|
|
|
NM_000553.6(WRN):c.1576+1G>T
|
|
|
NM_000553.6(WRN):c.1576+1dup
|
rs2130157703
|
|
NM_000553.6(WRN):c.1577-2A>G
|
|
|
NM_000553.6(WRN):c.15del (p.Lys5fs)
|
rs878854133
|
|
NM_000553.6(WRN):c.1653-2A>G
|
rs1434118877
|
|
NM_000553.6(WRN):c.1653-2A>T
|
rs1434118877
|
|
NM_000553.6(WRN):c.1657C>T (p.Gln553Ter)
|
|
|
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer)
|
rs1585440064
|
|
NM_000553.6(WRN):c.1689_1695del (p.Arg564fs)
|
|
|
NM_000553.6(WRN):c.1720+1G>T
|
|
|
NM_000553.6(WRN):c.1720+5G>A
|
rs1813707238
|
|
NM_000553.6(WRN):c.1721-1G>A
|
|
|
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)
|
rs757808169
|
|
NM_000553.6(WRN):c.1754del (p.Pro585fs)
|
|
|
NM_000553.6(WRN):c.1822C>T (p.Gln608Ter)
|
rs1813725009
|
|
NM_000553.6(WRN):c.1829+2T>C
|
|
|
NM_000553.6(WRN):c.1871C>A (p.Ser624Ter)
|
|
|
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)
|
|
|
NM_000553.6(WRN):c.1898+2T>G
|
rs772319506
|
|
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter)
|
rs1585449207
|
|
NM_000553.6(WRN):c.1908C>G (p.Tyr636Ter)
|
|
|
NM_000553.6(WRN):c.1981+1G>A
|
|
|
NM_000553.6(WRN):c.1981+1G>C
|
rs1814007969
|
|
NM_000553.6(WRN):c.2017dup (p.Ile673fs)
|
|
|
NM_000553.6(WRN):c.2031_2032del (p.Gly677_His678insTer)
|
rs2130229490
|
|
NM_000553.6(WRN):c.2040del (p.Phe680fs)
|
|
|
NM_000553.6(WRN):c.2088+1G>T
|
|
|
NM_000553.6(WRN):c.2089-1G>C
|
rs2130282582
|
|
NM_000553.6(WRN):c.2245_2448+1213del
|
|
|
NM_000553.6(WRN):c.2273+1G>A
|
rs2130284894
|
|
NM_000553.6(WRN):c.2273+2T>C
|
|
|
NM_000553.6(WRN):c.2290G>T (p.Glu764Ter)
|
|
|
NM_000553.6(WRN):c.229dup (p.Asp77fs)
|
rs747587698
|
|
NM_000553.6(WRN):c.230dup (p.Asp77fs)
|
|
|
NM_000553.6(WRN):c.2448+1G>A
|
rs2130306367
|
|
NM_000553.6(WRN):c.2448+1_2448+2insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAGATGAAATTCAGG
|
rs2130306240
|
|
NM_000553.6(WRN):c.2449-2A>C
|
rs1585483030
|
|
NM_000553.6(WRN):c.2503del (p.Gln835fs)
|
rs748484883
|
|
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter)
|
rs2130322576
|
|
NM_000553.6(WRN):c.254_258dup (p.Pro87fs)
|
|
|
NM_000553.6(WRN):c.2624T>G (p.Leu875Ter)
|
|
|
NM_000553.6(WRN):c.2630+1G>A
|
rs1279240593
|
|
NM_000553.6(WRN):c.2731C>T (p.Gln911Ter)
|
|
|
NM_000553.6(WRN):c.2732+1G>A
|
rs1047229701
|
|
NM_000553.6(WRN):c.2732+1G>C
|
rs1047229701
|
|
NM_000553.6(WRN):c.2733-1G>A
|
rs754056304
|
|
NM_000553.6(WRN):c.2733-1_2733del
|
rs1801859348
|
|
NM_000553.6(WRN):c.2826-1G>C
|
rs756880457
|
|
NM_000553.6(WRN):c.2856dup (p.Glu953fs)
|
|
|
NM_000553.6(WRN):c.2922_2968-316del
|
|
|
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs)
|
rs1802222407
|
|
NM_000553.6(WRN):c.2967+1G>A
|
rs1474054365
|
|
NM_000553.6(WRN):c.2968-1G>A
|
rs1300106191
|
|
NM_000553.6(WRN):c.2968-1G>C
|
|
|
NM_000553.6(WRN):c.3233+1G>C
|
rs1563376793
|
|
NM_000553.6(WRN):c.3234-1G>A
|
rs866300270
|
|
NM_000553.6(WRN):c.3234-2A>C
|
rs1554533006
|
|
NM_000553.6(WRN):c.3244del (p.Val1082fs)
|
rs745905108
|
|
NM_000553.6(WRN):c.3309+1G>T
|
rs1281075870
|
|
NM_000553.6(WRN):c.3309+2T>G
|
|
|
NM_000553.6(WRN):c.3381_3383+76del
|
rs1585517902
|
|
NM_000553.6(WRN):c.3382dup (p.Ser1128fs)
|
rs778872619
|
|
NM_000553.6(WRN):c.3383+1G>A
|
|
|
NM_000553.6(WRN):c.3408dup (p.Ala1137fs)
|
rs1284409960
|
|
NM_000553.6(WRN):c.3459+1G>A
|
|
|
NM_000553.6(WRN):c.3459+2T>G
|
rs2130439413
|
|
NM_000553.6(WRN):c.3460-1G>C
|
|
|
NM_000553.6(WRN):c.3460-2A>G
|
rs281865159
|
|
NM_000553.6(WRN):c.3511del (p.Met1171fs)
|
|
|
NM_000553.6(WRN):c.356-2A>G
|
|
|
NM_000553.6(WRN):c.3572+1G>T
|
rs2130441377
|
|
NM_000553.6(WRN):c.3590del (p.Asn1197fs)
|
rs281865160
|
|
NM_000553.6(WRN):c.3637del (p.Ala1213fs)
|
|
|
NM_000553.6(WRN):c.3670C>T (p.Gln1224Ter)
|
|
|
NM_000553.6(WRN):c.3687+2T>C
|
|
|
NM_000553.6(WRN):c.3688-2A>G
|
rs2130469632
|
|
NM_000553.6(WRN):c.3726del (p.Lys1243fs)
|
rs2130469991
|
|
NM_000553.6(WRN):c.3819+1G>C
|
rs748618811
|
|
NM_000553.6(WRN):c.3820-1G>A
|
rs1803425342
|
|
NM_000553.6(WRN):c.3820-2A>C
|
rs759685032
|
|
NM_000553.6(WRN):c.3972del (p.Val1325fs)
|
|
|
NM_000553.6(WRN):c.3982+1G>A
|
rs1381370500
|
|
NM_000553.6(WRN):c.3982+1G>C
|
rs1381370500
|
|
NM_000553.6(WRN):c.3982+1G>T
|
rs1381370500
|
|
NM_000553.6(WRN):c.39_40dup (p.Lys14fs)
|
|
|
NM_000553.6(WRN):c.4109del (p.Asn1370fs)
|
|
|
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)
|
|
|
NM_000553.6(WRN):c.4117A>T (p.Arg1373Ter)
|
|
|
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)
|
|
|
NM_000553.6(WRN):c.487_488del (p.Asp163fs)
|
rs797045118
|
|
NM_000553.6(WRN):c.504+1G>A
|
rs1163988347
|
|
NM_000553.6(WRN):c.505-1G>A
|
|
|
NM_000553.6(WRN):c.505-2A>G
|
rs2130048793
|
|
NM_000553.6(WRN):c.539_543del (p.Leu180fs)
|
|
|
NM_000553.6(WRN):c.554T>A (p.Leu185Ter)
|
|
|
NM_000553.6(WRN):c.561A>G (p.Lys187=)
|
rs775802030
|
|
NM_000553.6(WRN):c.599G>A (p.Trp200Ter)
|
|
|
NM_000553.6(WRN):c.654+2T>C
|
|
|
NM_000553.6(WRN):c.724+513A>G
|
|
|
NM_000553.6(WRN):c.724+515A>G
|
|
|
NM_000553.6(WRN):c.724_724+3del
|
rs1554519449
|
|
NM_000553.6(WRN):c.725-1G>A
|
|
|
NM_000553.6(WRN):c.725-1G>C
|
|
|
NM_000553.6(WRN):c.725-2A>G
|
|
|
NM_000553.6(WRN):c.838del (p.Arg280fs)
|
|
|
NM_000553.6(WRN):c.839+1G>A
|
rs2130095451
|
|
NM_000553.6(WRN):c.840-1G>C
|
rs1395775047
|
|
NM_000553.6(WRN):c.840-2A>T
|
|
|
NM_000553.6(WRN):c.944T>G (p.Leu315Ter)
|
rs1813280584
|
|
NM_000553.6(WRN):c.96+1G>A
|
|
|
NM_000553.6(WRN):c.96+1G>T
|
|
|
NM_000553.6(WRN):c.96+1del
|
|
|
NM_000553.6(WRN):c.968C>G (p.Ser323Ter)
|
|
|
NM_000554.6(CRX):c.480_481del (p.Ser161fs)
|
rs1599991538
|
|
NM_000554.6(CRX):c.648del (p.Ser216fs)
|
rs869312175
|
|
NM_000760.4(CSF3R):c.1577-1G>A
|
|
|
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile)
|
rs796065343
|
|
NM_000760.4(CSF3R):c.65-1G>A
|
|
|
NM_000760.4(CSF3R):c.65-2A>C
|
|
|
NM_000760.4(CSF3R):c.843+2T>C
|
rs1650834071
|
|
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys)
|
rs606231473
|
|
NM_000760.4(CSF3R):c.998-1G>A
|
rs1248511242
|
|
NM_000760.4(CSF3R):c.998-2A>T
|
rs879253750
|
|
NM_000782.5(CYP24A1):c.233_234delinsC (p.Gly78fs)
|
|
|
NM_000782.5(CYP24A1):c.62del (p.Pro21fs)
|
rs774432244
|
|
NM_000782.5(CYP24A1):c.685A>T (p.Lys229Ter)
|
rs2146489987
|
|
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)
|
rs1575206357
|
|
NM_000784.4(CYP27A1):c.1017+1del
|
rs1559392904
|
|
NM_000784.4(CYP27A1):c.1018-1G>C
|
rs1575206658
|
|
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)
|
rs1470602732
|
|
NM_000784.4(CYP27A1):c.1061del (p.Asp354fs)
|
|
|
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)
|
rs1575206688
|
|
NM_000784.4(CYP27A1):c.108del (p.Ser37fs)
|
|
|
NM_000784.4(CYP27A1):c.1126C>T (p.Gln376Ter)
|
|
|
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
|
|
|
NM_000784.4(CYP27A1):c.1146_1151delinsAAGCT (p.His382fs)
|
|
|
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
|
|
|
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)
|
rs1178393503
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1185-2A>C
|
rs1553616457
|
|
NM_000784.4(CYP27A1):c.1185-2A>T
|
rs1553616457
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1264-2A>G
|
rs1553616478
|
|
NM_000784.4(CYP27A1):c.1333del (p.Gln445fs)
|
|
|
NM_000784.4(CYP27A1):c.1374dup (p.Arg459fs)
|
|
|
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)
|
|
|
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs)
|
rs1553616508
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)
|
rs199638075
|
|
NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro)
|
|
|
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu)
|
rs199638075
|
|
NM_000784.4(CYP27A1):c.1453G>T (p.Glu485Ter)
|
|
|
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter)
|
rs1943770060
|
|
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
|
|
|
NM_000784.4(CYP27A1):c.1472dup (p.Arg492fs)
|
|
|
NM_000784.4(CYP27A1):c.1477-1G>A
|
|
|
NM_000784.4(CYP27A1):c.1477-2A>C
|
rs111570247
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)
|
rs374507635
|
|
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter)
|
rs1553614310
|
|
NM_000784.4(CYP27A1):c.20del (p.Ala7fs)
|
|
|
NM_000784.4(CYP27A1):c.256-1G>T
|
rs886556800
|
|
NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter)
|
rs1943689487
|
|
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)
|
rs1943689766
|
|
NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter)
|
rs1943689944
|
|
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)
|
rs1943690848
|
|
NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly)
|
|
|
NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys)
|
|
|
NM_000784.4(CYP27A1):c.395del (p.Leu132fs)
|
|
|
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)
|
rs1559391480
|
|
NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)
|
|
|
NM_000784.4(CYP27A1):c.426_430del (p.Thr143fs)
|
|
|
NM_000784.4(CYP27A1):c.440_446+2del
|
rs2105978950
|
|
NM_000784.4(CYP27A1):c.447-1G>A
|
rs2105979879
|
|
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
|
|
|
NM_000784.4(CYP27A1):c.473dup (p.Gln159fs)
|
|
|
NM_000784.4(CYP27A1):c.494T>A (p.Leu165Ter)
|
|
|
NM_000784.4(CYP27A1):c.522T>A (p.Tyr174Ter)
|
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.539del (p.Glu180fs)
|
rs1553616235
|
|
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
|
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000784.4(CYP27A1):c.58del (p.Leu20fs)
|
rs2106479076
|
|
NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter)
|
rs186812403
|
|
NM_000784.4(CYP27A1):c.608_614del (p.Ser203fs)
|
|
|
NM_000784.4(CYP27A1):c.646+1G>A
|
|
|
NM_000784.4(CYP27A1):c.646+1G>C
|
rs79535262
|
|
NM_000784.4(CYP27A1):c.646+2T>C
|
rs1553616253
|
|
NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter)
|
rs1414259537
|
|
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)
|
rs755532803
|
|
NM_000784.4(CYP27A1):c.685_688del (p.Leu229fs)
|
|
|
NM_000784.4(CYP27A1):c.703G>T (p.Glu235Ter)
|
|
|
NM_000784.4(CYP27A1):c.724A>T (p.Arg242Ter)
|
|
|
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)
|
rs1943736070
|
|
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys)
|
rs1943736101
|
|
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
|
|
|
NM_000784.4(CYP27A1):c.845-1G>C
|
|
|
NM_000784.4(CYP27A1):c.845-2A>G
|
rs1553616312
|
|
NM_000784.4(CYP27A1):c.845-46_881del
|
|
|
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter)
|
rs1057519469
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_000784.4(CYP27A1):c.953del (p.Gly318fs)
|
|
|
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)
|
rs1943741125
|
|
NM_000784.4(CYP27A1):c.985_994del (p.Leu329fs)
|
|
|
NM_000899.5(KITLG):c.16-2A>G
|
|
|
NM_000899.5(KITLG):c.715-2A>G
|
|
|
NM_001005920.4(JMJD8):c.*65A>G
|
rs1555475794
|
|
NM_001006657.2(WDR35):c.1195-2A>T
|
|
|
NM_001009944.2(PKD1):c.8017-?_8161+?dup
|
|
|
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg)
|
rs1567628757
|
|
NM_001013838.3(CARMIL2):c.1334+1G>T
|
rs780608299
|
|
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr)
|
rs1567626023
|
|
NM_001013838.3(CARMIL2):c.1528C>T (p.Gln510Ter)
|
|
|
NM_001013838.3(CARMIL2):c.1753_1754del (p.Gln585fs)
|
|
|
NM_001013838.3(CARMIL2):c.2313+1G>A
|
rs765817045
|
|
NM_001013838.3(CARMIL2):c.958+1G>C
|
rs1567628294
|
|
NM_001017420.3(ESCO2):c.1013+1G>A
|
rs1225195349
|
|
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)
|
rs80359859
|
|
NM_001017420.3(ESCO2):c.1166G>A (p.Cys389Tyr)
|
rs2128955152
|
|
NM_001017420.3(ESCO2):c.116dup (p.Asn39fs)
|
rs1585389705
|
|
NM_001017420.3(ESCO2):c.845_848del (p.Lys282fs)
|
|
|
NM_001017420.3(ESCO2):c.862-2A>G
|
rs1804892169
|
|
NM_001017420.3(ESCO2):c.956-2A>G
|
rs1207909659
|
|
NM_001023570.4(IQCB1):c.100+1G>A
|
|
|
NM_001023570.4(IQCB1):c.101-1G>A
|
rs1372024420
|
|
NM_001023570.4(IQCB1):c.101-1G>T
|
|
|
NM_001023570.4(IQCB1):c.1024C>T (p.Gln342Ter)
|
|
|
NM_001023570.4(IQCB1):c.1045_1048delinsGGGGG (p.Lys349fs)
|
|
|
NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter)
|
|
|
NM_001023570.4(IQCB1):c.1056del (p.Leu352fs)
|
|
|
NM_001023570.4(IQCB1):c.150_153del (p.Gln51fs)
|
|
|
NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter)
|
|
|
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs)
|
rs587783011
|
|
NM_001023570.4(IQCB1):c.1557dup (p.Gln520fs)
|
|
|
NM_001023570.4(IQCB1):c.1602del (p.Glu534fs)
|
|
|
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter)
|
rs1553722736
|
|
NM_001023570.4(IQCB1):c.263+1G>T
|
|
|
NM_001023570.4(IQCB1):c.394-1G>A
|
|
|
NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter)
|
rs2108595322
|
|
NM_001023570.4(IQCB1):c.481C>T (p.Gln161Ter)
|
|
|
NM_001023570.4(IQCB1):c.488-2A>G
|
|
|
NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter)
|
|
|
NM_001023570.4(IQCB1):c.628dup (p.Ile210fs)
|
|
|
NM_001023570.4(IQCB1):c.758del (p.Cys253fs)
|
rs770441610
|
|
NM_001023570.4(IQCB1):c.767-2A>G
|
rs2108566215
|
|
NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys)
|
rs778777181
|
|
NM_001023570.4(IQCB1):c.781del (p.Leu260_Leu261insTer)
|
|
|
NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter)
|
rs1949225959
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_001023570.4(IQCB1):c.983dup (p.Arg329fs)
|
rs1949141890
|
|
NM_001031679.3(MSRB3):c.-147T>G
|
rs949229098
|
|
NM_001031679.3(MSRB3):c.406G>A (p.Gly136Arg)
|
rs2136722469
|
|
NM_001034852.3(SMOC1):c.1223G>A (p.Cys408Tyr)
|
rs1326644602
|
|
NM_001034852.3(SMOC1):c.812G>A (p.Cys271Tyr)
|
rs1566709825
|
|
NM_001038603.3(MARVELD2):c.1122dup (p.Arg375Ter)
|
rs2150915422
|
|
NM_001038603.3(MARVELD2):c.1138C>T (p.Gln380Ter)
|
rs1766596437
|
|
NM_001038603.3(MARVELD2):c.1208_1211del (p.Arg403fs)
|
rs772030670
|
|
NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs)
|
rs1561299289
|
|
NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter)
|
rs1569034190
|
|
NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter)
|
rs773152243
|
|
NM_001039141.3(TRIOBP):c.1855del (p.Ala619fs)
|
rs2145833313
|
|
NM_001039141.3(TRIOBP):c.3145_3146del (p.Glu1048_Ser1049insTer)
|
rs1555896285
|
|
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs)
|
rs771696726
|
|
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs)
|
rs1569042782
|
|
NM_001039141.3(TRIOBP):c.4280G>A (p.Trp1427Ter)
|
rs1329127252
|
|
NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser)
|
rs1569040134
|
|
NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]
|
|
|
NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter)
|
rs1206731716
|
|
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter)
|
rs1555439013
|
|
NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter)
|
rs538996447
|
|
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)
|
rs118204034
|
|
NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs)
|
rs1555439049
|
|
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs)
|
rs1452984345
|
|
NM_001039958.2(MESP2):c.343_344dup (p.Gly116fs)
|
rs1555439061
|
|
NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter)
|
rs1555439063
|
|
NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter)
|
rs912110093
|
|
NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter)
|
rs1555439118
|
|
NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter)
|
rs1555439152
|
|
NM_001040616.3(LINS1):c.1222+2T>C
|
|
|
NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs)
|
rs2141262985
|
|
NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)
|
|
|
NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs)
|
rs2141261531
|
|
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
|
|
|
NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter)
|
rs1383641417
|
|
NM_001040616.3(LINS1):c.431del (p.Leu144fs)
|
rs764442764
|
|
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs)
|
rs747412555
|
|
NM_001040616.3(LINS1):c.597del (p.Glu200fs)
|
rs1198074890
|
|
NM_001040616.3(LINS1):c.631+1G>A
|
|
|
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter)
|
rs1596891223
|
|
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys)
|
rs1057519019
|
|
NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del)
|
rs1555810299
|
|
NM_001042472.3(ABHD12):c.620-2A>G
|
rs1555811525
|
|
NM_001042472.3(ABHD12):c.788-1G>T
|
|
|
NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu)
|
rs886039872
|
|
NM_001042544.1:c.3885_3893del
|
|
|
NM_001042545.2(LTBP4):c.1307-2A>G
|
rs970983655
|
|
NM_001042545.2(LTBP4):c.3298C>T (p.Arg1100Ter)
|
|
|
NM_001042545.2(LTBP4):c.3850dup (p.Cys1284fs)
|
rs1599879104
|
|
NM_001042545.2(LTBP4):c.565del (p.Glu189fs)
|
rs2146020978
|
|
NM_001042545.2(LTBP4):c.608T>A (p.Leu203Ter)
|
|
|
NM_001042663.3(PLEKHG5):c.22_23insGGCC (p.Lys8fs)
|
rs2148627334
|
|
NM_001042702.5(PJVK):c.158C>G (p.Ser53Ter)
|
rs538027448
|
|
NM_001042702.5(PJVK):c.162_172del (p.Pro55fs)
|
rs1559366084
|
|
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del)
|
rs1559372512
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001044385.3(TMEM237):c.137-2A>G
|
|
|
NM_001044385.3(TMEM237):c.396-2A>G
|
|
|
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter)
|
rs972221242
|
|
NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter)
|
rs2105899200
|
|
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly)
|
rs2105899169
|
|
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
|
|
|
NM_001044385.3(TMEM237):c.80-2A>G
|
rs1445957469
|
|
NM_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
NM_001048166.1(STIL):c.1078C>T (p.Gln360Ter)
|
rs2149046665
|
|
NM_001048166.1(STIL):c.2344_2347del (p.Leu782fs)
|
rs1644859651
|
|
NM_001048166.1(STIL):c.2488_2489del (p.Asp830fs)
|
|
|
NM_001048166.1(STIL):c.3538_3541del (p.Asn1180fs)
|
|
|
NM_001048166.1(STIL):c.384dup (p.His129fs)
|
rs2149199098
|
|
NM_001048166.1(STIL):c.895T>A (p.Phe299Ile)
|
rs587784452
|
|
NM_001048174.2(MUTYH):c.-6-2A>T
|
|
|
NM_001048174.2(MUTYH):c.1016_1017del (p.Pro339fs)
|
rs768130289
|
|
NM_001048174.2(MUTYH):c.1033dup (p.Ala345fs)
|
|
|
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)
|
rs1060501335
|
|
NM_001048174.2(MUTYH):c.1087dup (p.Gln363fs)
|
|
|
NM_001048174.2(MUTYH):c.1103-32_1115del
|
rs886039606
|
|
NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs)
|
rs863224501
|
|
NM_001048174.2(MUTYH):c.1130del (p.Pro377fs)
|
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1145_1146dup (p.Pro383fs)
|
rs1553125914
|
|
NM_001048174.2(MUTYH):c.116-8_124delinsTCAGCCG
|
|
|
NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter)
|
rs1060501321
|
|
NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs)
|
rs1553125766
|
|
NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs)
|
rs1553125677
|
|
NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter)
|
rs1060501325
|
|
NM_001048174.2(MUTYH):c.1237del (p.Glu413fs)
|
rs1064795480
|
|
NM_001048174.2(MUTYH):c.1239+1G>T
|
rs1644818073
|
|
NM_001048174.2(MUTYH):c.1240-1G>A
|
rs876660837
|
|
NM_001048174.2(MUTYH):c.1240-1G>C
|
|
|
NM_001048174.2(MUTYH):c.1240-2A>G
|
|
|
NM_001048174.2(MUTYH):c.1257_1258del (p.Ile421fs)
|
rs876659414
|
|
NM_001048174.2(MUTYH):c.1258C>G (p.His420Asp)
|
rs786202133
|
|
NM_001048174.2(MUTYH):c.1269dup (p.Thr424fs)
|
|
|
NM_001048174.2(MUTYH):c.1283_1284del (p.Tyr428fs)
|
|
|
NM_001048174.2(MUTYH):c.1311dup (p.Val438fs)
|
rs1553125100
|
|
NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs)
|
rs1553125075
|
|
NM_001048174.2(MUTYH):c.1322_1323del (p.Val441fs)
|
rs2149112658
|
|
NM_001048174.2(MUTYH):c.1323_1332dup (p.Ala445fs)
|
rs2149112377
|
|
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)
|
rs376790729
|
|
NM_001048174.2(MUTYH):c.1363dup (p.Thr455fs)
|
rs1553124893
|
|
NM_001048174.2(MUTYH):c.1392_1392+6del
|
rs864621967
|
|
NM_001048174.2(MUTYH):c.1393-1G>A
|
rs1057517459
|
|
NM_001048174.2(MUTYH):c.1393-2_1393-1del
|
rs1570346782
|
|
NM_001048174.2(MUTYH):c.1405dup (p.Tyr469fs)
|
|
|
NM_001048174.2(MUTYH):c.1414C>T (p.Gln472Ter)
|
rs1644624908
|
|
NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter)
|
rs932830392
|
|
NM_001048174.2(MUTYH):c.1418del (p.Gln473fs)
|
|
|
NM_001048174.2(MUTYH):c.1434+2T>C
|
rs2149102678
|
|
NM_001048174.2(MUTYH):c.1434+2del
|
rs2149102703
|
|
NM_001048174.2(MUTYH):c.1435-2A>G
|
rs1553123105
|
|
NM_001048174.2(MUTYH):c.1446_1479del (p.Arg482fs)
|
|
|
NM_001048174.2(MUTYH):c.1446del (p.Arg482fs)
|
rs2149090006
|
|
NM_001048174.2(MUTYH):c.1457_1487del (p.Ser486fs)
|
rs2149088820
|
|
NM_001048174.2(MUTYH):c.1465_1466dup (p.Ser490fs)
|
rs1553123017
|
|
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter)
|
rs587782716
|
|
NM_001048174.2(MUTYH):c.1468del (p.Ser490fs)
|
rs878854186
|
|
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)
|
rs1645371113
|
|
NM_001048174.2(MUTYH):c.169C>G (p.His57Asp)
|
|
|
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.241C>G (p.Arg81Gly)
|
rs765123255
|
|
NM_001048174.2(MUTYH):c.247C>G (p.Leu83Val)
|
rs2149172338
|
|
NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro)
|
rs1557485553
|
|
NM_001048174.2(MUTYH):c.249dup (p.Pro84fs)
|
rs878854189
|
|
NM_001048174.2(MUTYH):c.264+1G>A
|
rs1553130042
|
|
NM_001048174.2(MUTYH):c.264+1G>T
|
rs1553130042
|
|
NM_001048174.2(MUTYH):c.304+1G>A
|
|
|
NM_001048174.2(MUTYH):c.304+2T>C
|
|
|
NM_001048174.2(MUTYH):c.304+2T>G
|
|
|
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
|
|
|
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter)
|
rs587781295
|
|
NM_001048174.2(MUTYH):c.309_322dup (p.Met108fs)
|
rs1553129652
|
|
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)
|
rs876660190
|
|
NM_001048174.2(MUTYH):c.376C>T (p.Gln126Ter)
|
|
|
NM_001048174.2(MUTYH):c.378+1G>A
|
|
|
NM_001048174.2(MUTYH):c.378+1G>T
|
rs1645259682
|
|
NM_001048174.2(MUTYH):c.378+1del
|
|
|
NM_001048174.2(MUTYH):c.378+2T>G
|
rs1553129521
|
|
NM_001048174.2(MUTYH):c.379-1G>A
|
rs1057520660
|
|
NM_001048174.2(MUTYH):c.379-4_382del
|
|
|
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)
|
rs876660787
|
|
NM_001048174.2(MUTYH):c.420+19_420+31del
|
rs781222233
|
|
NM_001048174.2(MUTYH):c.420+1_493-25del
|
rs1645164432
|
|
NM_001048174.2(MUTYH):c.420+2T>C
|
rs587782730
|
|
NM_001048174.2(MUTYH):c.420+2T>G
|
rs587782730
|
|
NM_001048174.2(MUTYH):c.421-1G>A
|
|
|
NM_001048174.2(MUTYH):c.421-2A>G
|
rs786203161
|
|
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)
|
rs1553129062
|
|
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)
|
rs1057517457
|
|
NM_001048174.2(MUTYH):c.453C>G (p.Tyr151Ter)
|
rs1645192561
|
|
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter)
|
rs1553128813
|
|
NM_001048174.2(MUTYH):c.493-1G>A
|
rs1423002555
|
|
NM_001048174.2(MUTYH):c.493-2A>G
|
rs1553128663
|
|
NM_001048174.2(MUTYH):c.606+1G>T
|
rs878854193
|
|
NM_001048174.2(MUTYH):c.607-1G>A
|
rs1557474906
|
|
NM_001048174.2(MUTYH):c.607-2A>C
|
|
|
NM_001048174.2(MUTYH):c.607-2A>T
|
rs1361763237
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001048174.2(MUTYH):c.655C>G (p.Arg219Gly)
|
rs587782885
|
|
NM_001048174.2(MUTYH):c.695_705-10del
|
rs1557472384
|
|
NM_001048174.2(MUTYH):c.704+1G>C
|
|
|
NM_001048174.2(MUTYH):c.704G>C (p.Trp235Ser)
|
rs1570406302
|
|
NM_001048174.2(MUTYH):c.705-2A>C
|
rs1645057147
|
|
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)
|
rs876659676
|
|
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)
|
rs761468459
|
|
NM_001048174.2(MUTYH):c.849+1G>A
|
|
|
NM_001048174.2(MUTYH):c.849+1G>T
|
rs2149136521
|
|
NM_001048174.2(MUTYH):c.849+2T>A
|
|
|
NM_001048174.2(MUTYH):c.849+2T>G
|
rs1060501333
|
|
NM_001048174.2(MUTYH):c.867_868del (p.Leu290fs)
|
rs2149134563
|
|
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs)
|
rs1645561773
|
|
NM_001048174.2(MUTYH):c.913+1G>A
|
rs2149133294
|
|
NM_001048174.2(MUTYH):c.91C>T (p.Gln31Ter)
|
|
|
NM_001048174.2(MUTYH):c.942_1042del (p.Leu315fs)
|
|
|
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter)
|
rs1060501324
|
|
NM_001048174.2(MUTYH):c.980dup (p.Val328fs)
|
|
|
NM_001048174.2(MUTYH):c.994del (p.Arg332fs)
|
rs1057517456
|
|
NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys)
|
rs1948104184
|
|
NM_001077365.2(POMT1):c.1272+2T>C
|
rs1564365317
|
|
NM_001077365.2(POMT1):c.1273-2A>G
|
|
|
NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)
|
|
|
NM_001077365.2(POMT1):c.1392G>C (p.Trp464Cys)
|
|
|
NM_001077365.2(POMT1):c.1585-2A>G
|
rs2131880195
|
|
NM_001077365.2(POMT1):c.1657del (p.Leu553fs)
|
rs794727190
|
|
NM_001077365.2(POMT1):c.1699-1G>A
|
rs1949874222
|
|
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)
|
rs119462986
|
|
NM_001077365.2(POMT1):c.1825+2T>C
|
|
|
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs)
|
rs1950265792
|
|
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro)
|
rs776988725
|
|
NM_001077365.2(POMT1):c.229+2T>C
|
rs1945782278
|
|
NM_001077365.2(POMT1):c.314G>A (p.Arg105His)
|
rs1554772469
|
|
NM_001077365.2(POMT1):c.428-2A>G
|
rs1554773448
|
|
NM_001077365.2(POMT1):c.539+2T>C
|
|
|
NM_001077365.2(POMT1):c.699+67G>T
|
rs776061161
|
|
NM_001077365.2(POMT1):c.856-2A>G
|
|
|
NM_001077365.2(POMT1):c.987-2A>C
|
rs1453773610
|
|
NM_001077365.2(POMT1):c.987-2A>G
|
|
|
NM_001077418.3(TMEM231):c.140-30A>C
|
rs2080806593
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
NM_001077418.3(TMEM231):c.279dup (p.Gly94fs)
|
|
|
NM_001077418.3(TMEM231):c.438+1G>C
|
rs1415483600
|
|
NM_001077418.3(TMEM231):c.439-33_538del
|
|
|
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro)
|
rs397514754
|
|
NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)
|
|
|
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)
|
rs767865405
|
|
NM_001079802.2(FKTN):c.378del (p.Trp126fs)
|
|
|
NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)
|
|
|
NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs)
|
|
|
NM_001079802.2(FKTN):c.436dup (p.Arg146fs)
|
|
|
NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)
|
|
|
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)
|
rs760731888
|
|
NM_001079802.2(FKTN):c.569_570del (p.Arg190fs)
|
|
|
NM_001079802.2(FKTN):c.587_590del (p.Asp196fs)
|
|
|
NM_001079802.2(FKTN):c.648-1243G>T
|
rs1554754182
|
|
NM_001079802.2(FKTN):c.69dup (p.Gln24fs)
|
|
|
NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)
|
|
|
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)
|
rs377417974
|
|
NM_001079802.2(FKTN):c.840dup (p.Leu281fs)
|
|
|
NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)
|
|
|
NM_001079866.2(BCS1L):c.-50+326A>G
|
|
|
NM_001079866.2(BCS1L):c.1026dup (p.Arg343fs)
|
|
|
NM_001079866.2(BCS1L):c.1070C>A (p.Ser357Ter)
|
|
|
NM_001079866.2(BCS1L):c.1076G>A (p.Trp359Ter)
|
|
|
NM_001079866.2(BCS1L):c.1156C>T (p.Arg386Ter)
|
|
|
NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys)
|
rs121908575
|
|
NM_001079866.2(BCS1L):c.268dup (p.Arg90fs)
|
|
|
NM_001079866.2(BCS1L):c.280_281del (p.Lys94fs)
|
rs1939382793
|
|
NM_001079866.2(BCS1L):c.308_309insTGCGG (p.His104fs)
|
|
|
NM_001079866.2(BCS1L):c.321-2A>G
|
|
|
NM_001079866.2(BCS1L):c.397G>T (p.Glu133Ter)
|
|
|
NM_001079866.2(BCS1L):c.402_403insTT (p.Val135fs)
|
|
|
NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter)
|
rs1443643776
|
|
NM_001079866.2(BCS1L):c.476T>A (p.Leu159Ter)
|
|
|
NM_001079866.2(BCS1L):c.478C>T (p.Gln160Ter)
|
rs373105002
|
|
NM_001079866.2(BCS1L):c.492del (p.Lys165fs)
|
|
|
NM_001079866.2(BCS1L):c.493A>T (p.Lys165Ter)
|
rs1559317208
|
|
NM_001079866.2(BCS1L):c.522_523del (p.Glu175fs)
|
|
|
NM_001079866.2(BCS1L):c.580C>T (p.Gln194Ter)
|
|
|
NM_001079866.2(BCS1L):c.604_605insC (p.Val202fs)
|
|
|
NM_001079866.2(BCS1L):c.671_675del (p.Arg224fs)
|
|
|
NM_001079866.2(BCS1L):c.702C>A (p.Cys234Ter)
|
|
|
NM_001079866.2(BCS1L):c.734_735delinsC (p.Gly245fs)
|
|
|
NM_001079866.2(BCS1L):c.793C>T (p.Arg265Ter)
|
|
|
NM_001079866.2(BCS1L):c.793_796del (p.Arg265fs)
|
|
|
NM_001079866.2(BCS1L):c.798_799insCACCGGCCTCCACC (p.Asn267fs)
|
|
|
NM_001079866.2(BCS1L):c.876del (p.Leu293fs)
|
|
|
NM_001079866.2(BCS1L):c.897_898insCC (p.Lys300fs)
|
|
|
NM_001079866.2(BCS1L):c.903C>A (p.Tyr301Ter)
|
rs1939635954
|
|
NM_001079866.2(BCS1L):c.950_953del (p.Asp317fs)
|
|
|
NM_001079866.2(BCS1L):c.993_999del (p.Asn332fs)
|
|
|
NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter)
|
rs267606855
|
|
NM_001080476.3(GRXCR1):c.655G>A (p.Glu219Lys)
|
rs1560690591
|
|
NM_001080476.3(GRXCR1):c.668T>A (p.Leu223Gln)
|
|
|
NM_001080510.5(METTL23):c.126del (p.Lys42fs)
|
rs2143866789
|
|
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs)
|
rs746453662
|
|
NM_001080510.5(METTL23):c.204_207del (p.Met68fs)
|
|
|
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
|
|
|
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
|
|
|
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)
|
rs201426128
|
|
NM_001081.4(CUBN):c.2792-1G>T
|
rs2131845016
|
|
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs)
|
rs774493547
|
|
NM_001081.4(CUBN):c.4351-1G>C
|
|
|
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer)
|
rs2131697094
|
|
NM_001081.4(CUBN):c.4973del (p.Asn1658fs)
|
rs1588511533
|
|
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
|
|
|
NM_001082538.3(TCTN1):c.1284del (p.Thr429fs)
|
rs1566003392
|
|
NM_001082538.3(TCTN1):c.1494+2T>C
|
|
|
NM_001083961.2(WDR62):c.1312C>T (p.Arg438Cys)
|
rs587784542
|
|
NM_001083961.2(WDR62):c.1526C>T (p.Ser509Leu)
|
rs1026664479
|
|
NM_001083961.2(WDR62):c.1589dup (p.Glu531fs)
|
|
|
NM_001083961.2(WDR62):c.1684C>G (p.His562Asp)
|
rs1379578836
|
|
NM_001083961.2(WDR62):c.1963dup (p.Tyr655fs)
|
|
|
NM_001083961.2(WDR62):c.2035-2A>G
|
|
|
NM_001083961.2(WDR62):c.2260C>T (p.Gln754Ter)
|
rs2145795692
|
|
NM_001083961.2(WDR62):c.2486C>T (p.Thr829Ile)
|
|
|
NM_001083961.2(WDR62):c.269+1G>T
|
|
|
NM_001083961.2(WDR62):c.270-15_287del
|
rs2145528028
|
|
NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter)
|
|
|
NM_001083961.2(WDR62):c.332G>C (p.Arg111Thr)
|
rs1970564827
|
|
NM_001083961.2(WDR62):c.3348del (p.Phe1117fs)
|
rs797046109
|
|
NM_001083961.2(WDR62):c.3412G>T (p.Gly1138Ter)
|
|
|
NM_001083961.2(WDR62):c.3711_3714del (p.Ser1237fs)
|
|
|
NM_001083961.2(WDR62):c.4234dup (p.Leu1412fs)
|
rs1599851667
|
|
NM_001083961.2(WDR62):c.4345C>T (p.Gln1449Ter)
|
rs1301404126
|
|
NM_001083961.2(WDR62):c.659A>G (p.His220Arg)
|
rs2145586826
|
|
NM_001083961.2(WDR62):c.836G>A (p.Cys279Tyr)
|
rs1971033478
|
|
NM_001083961.2(WDR62):c.883-4_890del
|
rs1568334868
|
|
NM_001083961.2(WDR62):c.897del (p.Cys300fs)
|
|
|
NM_001098484.3(SLC4A4):c.1170G>C (p.Arg390Ser)
|
|
|
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs)
|
rs1553913019
|
|
NM_001099287.2(NIPAL4):c.421del (p.Leu140_Ile141insTer)
|
|
|
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)
|
rs587777798
|
|
NM_001101426.4(CRPPA):c.258-1G>C
|
rs767978961
|
|
NM_001101426.4(CRPPA):c.377G>A (p.Arg126His)
|
|
|
NM_001101426.4(CRPPA):c.836-5T>G
|
rs1583487698
|
|
NM_001101426.4(CRPPA):c.933+1G>A
|
rs1784247205
|
|
NM_001111.5(ADAR):c.1602-2A>G
|
|
|
NM_001111.5(ADAR):c.1786-1G>C
|
|
|
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr)
|
rs398122893
|
|
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr)
|
rs398122897
|
|
NM_001111.5(ADAR):c.2675G>A (p.Arg892His)
|
rs398122892
|
|
NM_001111.5(ADAR):c.2763-1G>A
|
|
|
NM_001111.5(ADAR):c.2763-2A>G
|
rs2101579172
|
|
NM_001111.5(ADAR):c.2886-1del
|
rs1696896431
|
|
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn)
|
rs398122896
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile)
|
rs1553207540
|
|
NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs)
|
rs2101563488
|
|
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)
|
rs769148365
|
|
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe)
|
rs398122895
|
|
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His)
|
rs398122894
|
|
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter)
|
rs1571046959
|
|
NM_001111.5(ADAR):c.665_666insGGAGCCAAGGAGCCCCAAA (p.Asn222fs)
|
rs1571110158
|
|
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter)
|
rs2101642015
|
|
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs)
|
rs1286660951
|
|
NM_001122769.3(LCA5):c.550del (p.Ala184fs)
|
rs2127680021
|
|
NM_001127453.2(GSDME):c.1183+5G>A
|
rs777359423
|
|
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)
|
rs374353052
|
|
NM_001127453.2(GSDME):c.212-1G>A
|
rs1790597003
|
|
NM_001127649.3(PEX26):c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG (p.Met1_Ser6delinsSerProProGlnGlyAlaArgGly)
|
|
|
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)
|
rs61752132
|
|
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter)
|
rs1556586479
|
|
NM_001127649.3(PEX26):c.228C>T (p.Gly76=)
|
rs786205556
|
|
NM_001127649.3(PEX26):c.256T>C (p.Cys86Arg)
|
|
|
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)
|
rs28940308
|
|
NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)
|
|
|
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr)
|
rs74315506
|
|
NM_001127649.3(PEX26):c.330C>G (p.Tyr110Ter)
|
|
|
NM_001127649.3(PEX26):c.349C>A (p.Pro117Thr)
|
rs2123647622
|
|
NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)
|
|
|
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg)
|
rs61752135
|
|
NM_001127649.3(PEX26):c.354del (p.Val120fs)
|
rs1926487809
|
|
NM_001127649.3(PEX26):c.361_362del (p.Leu121fs)
|
|
|
NM_001127649.3(PEX26):c.372-2A>G
|
|
|
NM_001127649.3(PEX26):c.379_380delinsGA (p.Leu127Glu)
|
|
|
NM_001127649.3(PEX26):c.394C>T (p.Gln132Ter)
|
|
|
NM_001127649.3(PEX26):c.468T>A (p.Tyr156Ter)
|
|
|
NM_001127649.3(PEX26):c.668-2A>G
|
rs2123657331
|
|
NM_001127649.3(PEX26):c.71del (p.Pro24fs)
|
|
|
NM_001127649.3(PEX26):c.789_798del (p.Cys263fs)
|
rs1926794975
|
|
NM_001127649.3(PEX26):c.814+1G>A
|
|
|
NM_001127671.2(LIFR):c.1105dup (p.Tyr369fs)
|
|
|
NM_001127671.2(LIFR):c.1136_1137del (p.Tyr379fs)
|
|
|
NM_001127671.2(LIFR):c.1578del (p.Lys526fs)
|
rs1554020702
|
|
NM_001127671.2(LIFR):c.210del (p.Ser71fs)
|
rs2112564371
|
|
NM_001127671.2(LIFR):c.2168-1G>A
|
rs2112393633
|
|
NM_001127671.2(LIFR):c.23del (p.Cys7_Leu8insTer)
|
rs773896661
|
|
NM_001127671.2(LIFR):c.254del (p.Asn85fs)
|
rs886041545
|
|
NM_001127671.2(LIFR):c.912_915del (p.Ile304fs)
|
rs1561159768
|
|
NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs)
|
|
|
NM_001128178.3(NPHP1):c.1083+1G>A
|
|
|
NM_001128178.3(NPHP1):c.1084-2A>C
|
|
|
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)
|
|
|
NM_001128178.3(NPHP1):c.1158+1G>A
|
|
|
NM_001128178.3(NPHP1):c.1190del (p.Gly397fs)
|
|
|
NM_001128178.3(NPHP1):c.1270-2A>G
|
|
|
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)
|
|
|
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
|
|
|
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)
|
|
|
NM_001128178.3(NPHP1):c.1323del (p.Phe441fs)
|
|
|
NM_001128178.3(NPHP1):c.1352+2T>C
|
|
|
NM_001128178.3(NPHP1):c.1352+2T>G
|
|
|
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs)
|
rs2104483923
|
|
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)
|
|
|
NM_001128178.3(NPHP1):c.141_143+40del
|
|
|
NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs)
|
|
|
NM_001128178.3(NPHP1):c.144-1G>A
|
|
|
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)
|
|
|
NM_001128178.3(NPHP1):c.1643-1G>C
|
|
|
NM_001128178.3(NPHP1):c.1643-2A>G
|
|
|
NM_001128178.3(NPHP1):c.1717-1G>T
|
|
|
NM_001128178.3(NPHP1):c.1717-1dup
|
|
|
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)
|
|
|
NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs)
|
|
|
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)
|
|
|
NM_001128178.3(NPHP1):c.483del (p.Asp162fs)
|
rs1410236296
|
|
NM_001128178.3(NPHP1):c.522+1G>A
|
|
|
NM_001128178.3(NPHP1):c.522+1G>C
|
|
|
NM_001128178.3(NPHP1):c.523-2A>C
|
|
|
NM_001128178.3(NPHP1):c.69+1G>T
|
|
|
NM_001128178.3(NPHP1):c.69+1del
|
|
|
NM_001128178.3(NPHP1):c.70-1G>T
|
|
|
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)
|
|
|
NM_001128178.3(NPHP1):c.729-1G>C
|
|
|
NM_001128178.3(NPHP1):c.738_739del (p.His247fs)
|
|
|
NM_001128178.3(NPHP1):c.771+124C>T
|
|
|
NM_001128178.3(NPHP1):c.771+58C>T
|
|
|
NM_001128178.3(NPHP1):c.77_143+140del
|
|
|
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)
|
|
|
NM_001128178.3(NPHP1):c.860-2A>G
|
|
|
NM_001128178.3(NPHP1):c.865C>T (p.Gln289Ter)
|
rs2104548702
|
|
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
|
|
|
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
|
|
|
NM_001128228.3(TPRN):c.1159G>T (p.Glu387Ter)
|
rs1187168418
|
|
NM_001128425.2(MUTYH):c.158-2A>G
|
rs587782066
|
|
NM_001128425.2(MUTYH):c.200del (p.Gly67fs)
|
rs746449748
|
|
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)
|
rs1064795596
|
|
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)
|
rs767402084
|
|
NM_001128431.4(SLC39A14):c.628-2A>G
|
|
|
NM_001128431.4(SLC39A14):c.751-9C>G
|
rs1039778197
|
|
NM_001129.5(AEBP1):c.821del (p.Pro274fs)
|
|
|
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs)
|
rs756118312
|
|
NM_001130987.2(DYSF):c.1002+4A>G
|
rs905322985
|
|
NM_001130987.2(DYSF):c.1033+2T>C
|
rs886042617
|
|
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro)
|
rs2152742282
|
|
NM_001130987.2(DYSF):c.1149+5G>A
|
rs1023002894
|
|
NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter)
|
|
|
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)
|
|
|
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter)
|
rs2082829594
|
|
NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)
|
|
|
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter)
|
rs2087900330
|
|
NM_001130987.2(DYSF):c.1277-2A>C
|
rs1553531682
|
|
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter)
|
rs2089169741
|
|
NM_001130987.2(DYSF):c.1493+1G>A
|
rs1553536007
|
|
NM_001130987.2(DYSF):c.1494-1G>A
|
rs398123768
|
|
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)
|
|
|
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)
|
rs139258703
|
|
NM_001130987.2(DYSF):c.1576+1del
|
rs1553537332
|
|
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
|
|
|
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)
|
rs886042641
|
|
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter)
|
rs2090909751
|
|
NM_001130987.2(DYSF):c.1669del (p.Tyr557fs)
|
|
|
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter)
|
rs886042633
|
|
NM_001130987.2(DYSF):c.181del (p.Asp61fs)
|
|
|
NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs)
|
|
|
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg)
|
rs201049092
|
|
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)
|
rs886043900
|
|
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter)
|
rs2082945195
|
|
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)
|
|
|
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter)
|
rs2091142154
|
|
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter)
|
rs2091144091
|
|
NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs)
|
|
|
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)
|
|
|
NM_001130987.2(DYSF):c.2253del (p.Thr752fs)
|
|
|
NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs)
|
|
|
NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs)
|
|
|
NM_001130987.2(DYSF):c.240-1G>A
|
rs1553518087
|
|
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)
|
|
|
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter)
|
rs2091951931
|
|
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)
|
rs2092204417
|
|
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter)
|
rs2092205152
|
|
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter)
|
rs2092208616
|
|
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter)
|
rs2092209337
|
|
NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs)
|
|
|
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter)
|
rs2092210085
|
|
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter)
|
rs2092211777
|
|
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)
|
|
|
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)
|
|
|
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter)
|
rs2092231526
|
|
NM_001130987.2(DYSF):c.2864+1dup
|
|
|
NM_001130987.2(DYSF):c.2865-2A>C
|
rs886043964
|
|
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter)
|
rs763925689
|
|
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)
|
rs750028300
|
|
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)
|
|
|
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)
|
rs2092343409
|
|
NM_001130987.2(DYSF):c.3085+1G>T
|
rs1553555585
|
|
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)
|
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs)
|
rs753711667
|
|
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
|
|
|
NM_001130987.2(DYSF):c.316del (p.Leu106fs)
|
|
|
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)
|
rs1553556116
|
|
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)
|
rs2092369130
|
|
NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs)
|
|
|
NM_001130987.2(DYSF):c.3216del (p.Ala1073fs)
|
|
|
NM_001130987.2(DYSF):c.321_322del (p.Asp108fs)
|
|
|
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter)
|
rs1666836481
|
|
NM_001130987.2(DYSF):c.3251del (p.Gly1084fs)
|
|
|
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter)
|
rs1252415299
|
|
NM_001130987.2(DYSF):c.3369del (p.Pro1124fs)
|
|
|
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
|
rs886042379
|
|
NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs)
|
|
|
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter)
|
rs2093222376
|
|
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)
|
rs2093464314
|
|
NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs)
|
|
|
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)
|
rs143393575
|
|
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter)
|
rs773773555
|
|
NM_001130987.2(DYSF):c.3687del (p.Phe1229fs)
|
|
|
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer)
|
rs1574264671
|
|
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)
|
rs758107024
|
|
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs)
|
rs1553376558
|
|
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs)
|
rs1574277160
|
|
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)
|
rs1462064763
|
|
NM_001130987.2(DYSF):c.3897+1G>A
|
rs1553376691
|
|
NM_001130987.2(DYSF):c.3957+2T>A
|
rs1553377764
|
|
NM_001130987.2(DYSF):c.3969del (p.Asp1324fs)
|
rs1553381945
|
|
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter)
|
rs1558613592
|
|
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)
|
|
|
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)
|
|
|
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs)
|
rs1574340607
|
|
NM_001130987.2(DYSF):c.4221+5del
|
rs1574341049
|
|
NM_001130987.2(DYSF):c.431del (p.Pro144fs)
|
|
|
NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs)
|
|
|
NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs)
|
|
|
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
|
rs576130413
|
|
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)
|
|
|
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)
|
|
|
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
|
|
|
NM_001130987.2(DYSF):c.4626+1G>A
|
rs1558708492
|
|
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)
|
|
|
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs)
|
rs1553408378
|
|
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs)
|
rs1572994572
|
|
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter)
|
rs770905160
|
|
NM_001130987.2(DYSF):c.4794dup (p.Ile1599fs)
|
rs2152940961
|
|
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter)
|
rs1573009747
|
|
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter)
|
rs2094828804
|
|
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)
|
|
|
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)
|
rs2094861411
|
|
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter)
|
rs868779799
|
|
NM_001130987.2(DYSF):c.5003+1249G>T
|
rs886042110
|
|
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)
|
|
|
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)
|
rs758992291
|
|
NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs)
|
|
|
NM_001130987.2(DYSF):c.5174+2T>C
|
rs1553412826
|
|
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)
|
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro)
|
|
|
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs)
|
rs1558771348
|
|
NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs)
|
|
|
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter)
|
rs2094975129
|
|
NM_001130987.2(DYSF):c.5255del (p.Ala1752fs)
|
|
|
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)
|
|
|
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)
|
|
|
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)
|
|
|
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter)
|
rs2094975881
|
|
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)
|
rs2094976185
|
|
NM_001130987.2(DYSF):c.5317+1G>A
|
rs773386253
|
|
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter)
|
rs2094976441
|
|
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)
|
|
|
NM_001130987.2(DYSF):c.5457+1G>A
|
rs1553414413
|
|
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs)
|
rs1553415211
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)
|
rs886042584
|
|
NM_001130987.2(DYSF):c.5571G>C (p.Trp1857Cys)
|
rs1573094789
|
|
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter)
|
rs2095073059
|
|
NM_001130987.2(DYSF):c.561del (p.Gly188fs)
|
|
|
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter)
|
rs1320752132
|
|
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs)
|
rs1553416039
|
|
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu)
|
rs1233961202
|
|
NM_001130987.2(DYSF):c.5724dup (p.Arg1909fs)
|
|
|
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His)
|
rs762258343
|
|
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
|
|
|
NM_001130987.2(DYSF):c.5785-1G>C
|
rs751473506
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
|
NM_001130987.2(DYSF):c.5885-1G>A
|
|
|
NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro)
|
|
|
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)
|
rs1057521141
|
|
NM_001130987.2(DYSF):c.6061del (p.Ala2021fs)
|
|
|
NM_001130987.2(DYSF):c.6073del (p.Glu2025fs)
|
|
|
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)
|
rs2095289978
|
|
NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs)
|
|
|
NM_001130987.2(DYSF):c.6174-2A>G
|
rs1451269647
|
|
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter)
|
rs1553422709
|
|
NM_001130987.2(DYSF):c.640del (p.Ala214fs)
|
|
|
NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs)
|
|
|
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)
|
|
|
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)
|
|
|
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter)
|
rs759065714
|
|
NM_001130987.2(DYSF):c.875C>G (p.Pro292Arg)
|
rs1559053603
|
|
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)
|
rs794727851
|
|
NM_001130987.2(DYSF):c.888+1G>A
|
rs886044377
|
|
NM_001130987.2(DYSF):c.952-2A>G
|
rs1553522730
|
|
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)
|
rs398123807
|
|
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)
|
rs1553522751
|
|
NM_001130987.2(DYSF):c.982del (p.Ala328fs)
|
|
|
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)
|
rs121908963
|
|
NM_001130987.2(DYSF):c.994del (p.Glu332fs)
|
|
|
NM_001134793.2(HYLS1):c.268C>T (p.Arg90Ter)
|
|
|
NM_001134793.2(HYLS1):c.523G>T (p.Glu175Ter)
|
rs1482689330
|
|
NM_001134831.2(AHI1):c.1094dup (p.Met365fs)
|
rs2128081478
|
|
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)
|
rs1789162289
|
|
NM_001134831.2(AHI1):c.1205del (p.Pro402fs)
|
rs794729195
|
|
NM_001134831.2(AHI1):c.1270del (p.Ile424fs)
|
rs1788846426
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
NM_001134831.2(AHI1):c.1671del (p.Gly558fs)
|
rs2128056526
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs)
|
rs1163874095
|
|
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
|
rs797045223
|
|
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
|
|
|
NM_001134831.2(AHI1):c.2037-1G>C
|
rs1784918128
|
|
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)
|
rs797045224
|
|
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
|
|
|
NM_001134831.2(AHI1):c.2492+5G>A
|
rs2128012406
|
|
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
|
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)
|
rs1355690902
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
|
|
|
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
|
|
|
NM_001134831.2(AHI1):c.3426+2T>C
|
|
|
NM_001134831.2(AHI1):c.430del (p.Glu144fs)
|
rs2128098409
|
|
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs)
|
rs780910490
|
|
NM_001134831.2(AHI1):c.917del (p.Lys306fs)
|
rs1181159671
|
|
NM_001135697.3(SGCA):c.584+521del
|
rs1220674950
|
|
NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)
|
|
|
NM_001136035.4(TRMT1):c.1487G>A (p.Trp496Ter)
|
rs2145578013
|
|
NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter)
|
rs751298016
|
|
NM_001136035.4(TRMT1):c.232C>T (p.Gln78Ter)
|
rs2019344087
|
|
NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs)
|
rs750785552
|
|
NM_001136035.4(TRMT1):c.311-1G>A
|
rs2019322057
|
|
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
|
|
|
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs)
|
rs868289171
|
|
NM_001139.3(ALOX12B):c.1325G>T (p.Arg442Leu)
|
rs1028050037
|
|
NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys)
|
rs1567980596
|
|
NM_001139.3(ALOX12B):c.1799G>A (p.Arg600Gln)
|
rs1333287390
|
|
NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro)
|
rs1567985231
|
|
NM_001139.3(ALOX12B):c.527+2T>G
|
rs1555643304
|
|
NM_001139.3(ALOX12B):c.805C>T (p.Leu269Phe)
|
rs532842455
|
|
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn)
|
rs1977170764
|
|
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu)
|
rs1567985822
|
|
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro)
|
rs1977160529
|
|
NM_001142763.1:c.-189197_c.610-5166del
|
|
|
NM_001143992.2(WRAP53):c.438G>A (p.Trp146Ter)
|
|
|
NM_001145026.2(PTPRQ):c.1291C>T (p.Arg431Ter)
|
|
|
NM_001145026.2(PTPRQ):c.2621C>A (p.Ser874Ter)
|
rs948217913
|
|
NM_001145026.2(PTPRQ):c.3022A>T (p.Asn1008Tyr)
|
|
|
NM_001145026.2(PTPRQ):c.3308_3309del (p.Leu1103fs)
|
|
|
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs)
|
rs1565819402
|
|
NM_001145026.2(PTPRQ):c.6194_6453+1del
|
rs2121280782
|
|
NM_001145026.2(PTPRQ):c.6739-1G>A
|
rs1565855932
|
|
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=)
|
rs774544844
|
|
NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser)
|
rs1577876794
|
|
NM_001145809.2(MYH14):c.571G>A (p.Asp191Asn)
|
|
|
NM_001145809.2(MYH14):c.571G>C (p.Asp191His)
|
|
|
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr)
|
rs1568839335
|
|
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)
|
rs74315437
|
|
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg)
|
rs786204841
|
|
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter)
|
rs2071449158
|
|
NM_001160372.4(TRAPPC9):c.1623-1G>A
|
|
|
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
|
|
|
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
|
|
|
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)
|
|
|
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro)
|
rs2132705299
|
|
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)
|
|
|
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu)
|
rs1357591960
|
|
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
|
|
|
NM_001161403.3(LIMS2):c.238+1G>T
|
|
|
NM_001163809.2(WDR81):c.2410C>T (p.Arg804Ter)
|
|
|
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu)
|
rs730882206
|
|
NM_001171.5(ABCC6):c.1868-?_1943+?del
|
|
|
NM_001171.5(ABCC6):c.1944_1965del22
|
|
|
NM_001171.6(ABCC6):c.105del (p.Val37fs)
|
rs72664223
|
|
NM_001171.6(ABCC6):c.1064T>G (p.Leu355Arg)
|
rs72653758
|
|
NM_001171.6(ABCC6):c.1088_1120del (p.Gln363_Arg373del)
|
rs387906353
|
|
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg)
|
rs72653759
|
|
NM_001171.6(ABCC6):c.1092_1339-1949del
|
|
|
NM_001171.6(ABCC6):c.1148C>A (p.Ser383Ter)
|
|
|
NM_001171.6(ABCC6):c.1179_1338+2del
|
rs1555517253
|
|
NM_001171.6(ABCC6):c.1194C>G (p.Ser398Arg)
|
rs376518465
|
|
NM_001171.6(ABCC6):c.1288del (p.Leu430fs)
|
|
|
NM_001171.6(ABCC6):c.1519G>T (p.Glu507Ter)
|
rs368017088
|
|
NM_001171.6(ABCC6):c.1519del (p.Glu507fs)
|
rs1555514927
|
|
NM_001171.6(ABCC6):c.1575dup (p.Arg526fs)
|
rs72664217
|
|
NM_001171.6(ABCC6):c.1635+1G>T
|
rs1264741133
|
|
NM_001171.6(ABCC6):c.1674del (p.Glu559fs)
|
rs1313008538
|
|
NM_001171.6(ABCC6):c.1712_1713del (p.Leu571fs)
|
rs1555514467
|
|
NM_001171.6(ABCC6):c.1734_1742delinsG (p.Asn578fs)
|
rs1555514439
|
|
NM_001171.6(ABCC6):c.177_181del (p.Arg60fs)
|
rs1555523438
|
|
NM_001171.6(ABCC6):c.1781C>T (p.Ala594Val)
|
rs72653776
|
|
NM_001171.6(ABCC6):c.179_195del (p.Arg60fs)
|
rs1555523429
|
|
NM_001171.6(ABCC6):c.1857dup (p.Ser620fs)
|
rs72664218
|
|
NM_001171.6(ABCC6):c.1892_1943+26del
|
rs1555513581
|
|
NM_001171.6(ABCC6):c.1944-1G>C
|
rs1438851867
|
|
NM_001171.6(ABCC6):c.1967_1989del (p.Gly656fs)
|
rs74315130
|
|
NM_001171.6(ABCC6):c.1978del (p.Ala660fs)
|
rs1555513222
|
|
NM_001171.6(ABCC6):c.1999del (p.Ala667fs)
|
rs72664227
|
|
NM_001171.6(ABCC6):c.2030T>C (p.Leu677Pro)
|
rs72653782
|
|
NM_001171.6(ABCC6):c.2125G>T (p.Glu709Ter)
|
rs114303883
|
|
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter)
|
rs72650701
|
|
NM_001171.6(ABCC6):c.2170_2173del (p.Arg724fs)
|
rs1555513085
|
|
NM_001171.6(ABCC6):c.2177T>C (p.Leu726Pro)
|
rs72653785
|
|
NM_001171.6(ABCC6):c.220-1G>C
|
rs72664203
|
|
NM_001171.6(ABCC6):c.2245C>T (p.Gln749Ter)
|
rs66616070
|
|
NM_001171.6(ABCC6):c.2323del (p.Leu775fs)
|
rs72664229
|
|
NM_001171.6(ABCC6):c.2338del (p.Leu780fs)
|
rs1596649191
|
|
NM_001171.6(ABCC6):c.2383del (p.Val795fs)
|
rs1555512419
|
|
NM_001171.6(ABCC6):c.2416-1_2416del
|
rs111113625
|
|
NM_001171.6(ABCC6):c.2524C>T (p.Gln842Ter)
|
rs72653703
|
|
NM_001171.6(ABCC6):c.2784_2787del (p.Gly928_Arg929insTer)
|
rs765405352
|
|
NM_001171.6(ABCC6):c.280del (p.Ile94fs)
|
rs1555522997
|
|
NM_001171.6(ABCC6):c.2814C>G (p.Tyr938Ter)
|
rs72653704
|
|
NM_001171.6(ABCC6):c.2820_2821insC (p.Ala941fs)
|
rs72664219
|
|
NM_001171.6(ABCC6):c.2836_2851del (p.Leu946fs)
|
rs74315152
|
|
NM_001171.6(ABCC6):c.2901G>C (p.Trp967Cys)
|
rs2152235595
|
|
NM_001171.6(ABCC6):c.3168C>A (p.Asp1056Glu)
|
rs72657694
|
|
NM_001171.6(ABCC6):c.3207C>A (p.Tyr1069Ter)
|
rs60975032
|
|
NM_001171.6(ABCC6):c.333dup (p.Leu112fs)
|
rs1555522983
|
|
NM_001171.6(ABCC6):c.3343_3345del (p.Leu1115del)
|
rs72664231
|
|
NM_001171.6(ABCC6):c.3362C>G (p.Ser1121Trp)
|
rs63750987
|
|
NM_001171.6(ABCC6):c.3398G>C (p.Gly1133Ala)
|
rs63750473
|
|
NM_001171.6(ABCC6):c.3427C>T (p.Gln1143Ter)
|
rs72653743
|
|
NM_001171.6(ABCC6):c.3506+2_3506+5del
|
rs72664211
|
|
NM_001171.6(ABCC6):c.3544dup (p.Leu1182fs)
|
rs1555508630
|
|
NM_001171.6(ABCC6):c.36+1G>T
|
rs1555523841
|
|
NM_001171.6(ABCC6):c.3633+1G>A
|
rs1555508604
|
|
NM_001171.6(ABCC6):c.3668G>A (p.Trp1223Ter)
|
rs72653745
|
|
NM_001171.6(ABCC6):c.3692_3693insTT (p.Ser1232fs)
|
rs779018991
|
|
NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His)
|
rs63749796
|
|
NM_001171.6(ABCC6):c.3717T>G (p.Tyr1239Ter)
|
rs72653747
|
|
NM_001171.6(ABCC6):c.373G>T (p.Glu125Ter)
|
rs879956688
|
|
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs)
|
rs72664220
|
|
NM_001171.6(ABCC6):c.3777G>A (p.Trp1259Ter)
|
rs1555507925
|
|
NM_001171.6(ABCC6):c.3798del (p.Glu1266fs)
|
rs72664234
|
|
NM_001171.6(ABCC6):c.3816_3828dup (p.Glu1277delinsLysIleProThrTer)
|
rs1555507903
|
|
NM_001171.6(ABCC6):c.3866_3869dup (p.Ala1291fs)
|
rs1555507893
|
|
NM_001171.6(ABCC6):c.3876_3882+1del
|
rs1297171898
|
|
NM_001171.6(ABCC6):c.3912del (p.Lys1305fs)
|
rs72664236
|
|
NM_001171.6(ABCC6):c.3919T>C (p.Ser1307Pro)
|
rs63751318
|
|
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs)
|
rs1567465730
|
|
NM_001171.6(ABCC6):c.4209-2A>C
|
rs1555506740
|
|
NM_001171.6(ABCC6):c.4220_4221insGAAA (p.Gln1408fs)
|
rs72664222
|
|
NM_001171.6(ABCC6):c.4254del (p.Lys1419fs)
|
rs1448934731
|
|
NM_001171.6(ABCC6):c.4306_4312del (p.Thr1436fs)
|
rs74315109
|
|
NM_001171.6(ABCC6):c.4318del (p.Met1440fs)
|
rs72664238
|
|
NM_001171.6(ABCC6):c.4335del (p.Ser1446fs)
|
rs72664239
|
|
NM_001171.6(ABCC6):c.4341G>A (p.Trp1447Ter)
|
rs1333662666
|
|
NM_001171.6(ABCC6):c.4420A>T (p.Lys1474Ter)
|
rs72653751
|
|
NM_001171.6(ABCC6):c.4424G>A (p.Gly1475Glu)
|
rs1596578599
|
|
NM_001171.6(ABCC6):c.4434del (p.Glu1479fs)
|
rs72664280
|
|
NM_001171.6(ABCC6):c.4501G>A (p.Gly1501Ser)
|
rs63750874
|
|
NM_001171.6(ABCC6):c.46C>T (p.Gln16Ter)
|
rs1555523535
|
|
NM_001171.6(ABCC6):c.601-2A>G
|
rs1555520991
|
|
NM_001171.6(ABCC6):c.676G>A (p.Gly226Arg)
|
rs72653755
|
|
NM_001171.6(ABCC6):c.681C>G (p.Tyr227Ter)
|
rs1315925055
|
|
NM_001171.6(ABCC6):c.708_709dup (p.Trp237fs)
|
rs1343632105
|
|
NM_001171.6(ABCC6):c.713C>A (p.Ser238Ter)
|
rs763591743
|
|
NM_001171.6(ABCC6):c.938dup (p.Thr315fs)
|
rs72664216
|
|
NM_001171.6(ABCC6):c.960del (p.Ser321fs)
|
rs72664226
|
|
NM_001171.6(ABCC6):c.962del (p.Ser321fs)
|
rs1555518824
|
|
NM_001171.6(ABCC6):c.998+2_998+3del
|
rs72664204
|
|
NM_001171.6(ABCC6):c.998+2del
|
rs72664205
|
|
NM_001173976.2(TCTN1):c.1011-2_1012del
|
|
|
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
|
|
|
NM_001173990.3(TMEM216):c.137-1G>A
|
rs1554972547
|
|
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)
|
rs1554972556
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
|
|
|
NM_001173990.3(TMEM216):c.228del (p.Phe76fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.229+1G>A
|
rs2135191306
|
|
NM_001173990.3(TMEM216):c.229+1G>C
|
|
|
NM_001173990.3(TMEM216):c.230-2A>G
|
rs1211592806
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
|
|
|
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)
|
rs1554972958
|
|
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)
|
rs147267631
|
|
NM_001173990.3(TMEM216):c.34+1G>A
|
|
|
NM_001173990.3(TMEM216):c.35-13_36del
|
rs1057520085
|
|
NM_001173990.3(TMEM216):c.67del (p.Leu23fs)
|
rs1565088283
|
|
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
|
|
|
NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)
|
|
|
NM_001174150.2(ARL13B):c.59+1G>A
|
|
|
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)
|
rs121912608
|
|
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His)
|
rs764109067
|
|
NM_001174150.2(ARL13B):c.801del (p.Asn267fs)
|
|
|
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)
|
rs752472169
|
|
NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)
|
|
|
NM_001177701.3(IFT27):c.197C>A (p.Ala66Asp)
|
rs765920708
|
|
NM_001184.4(ATR):c.151+4A>G
|
rs1481733213
|
|
NM_001184.4(ATR):c.2320dup (p.Ile774fs)
|
rs757500301
|
|
NM_001184.4(ATR):c.4995G>T (p.Lys1665Asn)
|
rs1553761113
|
|
NM_001184.4(ATR):c.5196+1G>A
|
rs1553760567
|
|
NM_001184.4(ATR):c.7597C>T (p.Arg2533Ter)
|
|
|
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter)
|
rs1342429887
|
|
NM_001194998.2(CEP152):c.419del (p.Gln140fs)
|
|
|
NM_001194998.2(CEP152):c.467dup (p.Gln157fs)
|
rs1208144689
|
|
NM_001194998.2(CEP152):c.528G>A (p.Trp176Ter)
|
rs1897359016
|
|
NM_001194998.2(CEP152):c.780del (p.Asn260fs)
|
rs1567024512
|
|
NM_001194998.2(CEP152):c.833-1G>C
|
|
|
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter)
|
rs953422571
|
|
NM_001195263.2(PDZD7):c.1750-2A>G
|
|
|
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs)
|
rs1055318738
|
|
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)
|
rs397516633
|
|
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del)
|
rs397516636
|
|
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)
|
rs148695069
|
|
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)
|
rs200664140
|
|
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg)
|
rs1554835827
|
|
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)
|
rs786204428
|
|
NM_001199107.2(TBC1D24):c.1302+1G>T
|
|
|
NM_001199107.2(TBC1D24):c.1303-2A>G
|
rs2141876985
|
|
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs)
|
rs1292551263
|
|
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
|
|
|
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys)
|
rs1057524192
|
|
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser)
|
rs1489466696
|
|
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)
|
rs1057519630
|
|
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys)
|
rs763626059
|
|
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln)
|
rs756181906
|
|
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His)
|
rs1555501320
|
|
NM_001199107.2(TBC1D24):c.965+1G>T
|
|
|
NM_001199107.2(TBC1D24):c.983+1G>C
|
rs2141873582
|
|
NM_001199107.2(TBC1D24):c.983+2T>C
|
rs1596969717
|
|
NM_001199563.2(BVES):c.518dup (p.Ser174fs)
|
|
|
NM_001199563.2(BVES):c.602C>T (p.Ser201Phe)
|
rs869025337
|
|
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs)
|
rs1226171550
|
|
NM_001199799.2(ILDR1):c.1137del (p.Glu379fs)
|
rs2071390190
|
|
NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs)
|
rs1559870857
|
|
NM_001199799.2(ILDR1):c.206C>A (p.Pro69His)
|
|
|
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile)
|
rs387907016
|
|
NM_001199799.2(ILDR1):c.745del (p.Ser249fs)
|
rs571007078
|
|
NM_001205254.2(OCLN):c.1254-1G>A
|
|
|
NM_001205254.2(OCLN):c.1542del (p.Gly515fs)
|
|
|
NM_001205254.2(OCLN):c.252del (p.Ser85fs)
|
rs863225128
|
|
NM_001205254.2(OCLN):c.50+2T>C
|
rs1580547828
|
|
NM_001205254.2(OCLN):c.546G>C (p.Leu182=)
|
rs1580554633
|
|
NM_001205254.2(OCLN):c.630_645del (p.Gln211fs)
|
|
|
NM_001206999.2(CIT):c.367T>G (p.Tyr123Asp)
|
rs2138306726
|
|
NM_001218.5(CA12):c.956_957del (p.Val319fs)
|
rs757974800
|
|
NM_001242882.2(NAXD):c.441+3A>G
|
rs2139640370
|
|
NM_001242882.2(NAXD):c.442-1G>A
|
|
|
NM_001242882.2(NAXD):c.715C>T (p.Gln239Ter)
|
rs1331075407
|
|
NM_001242882.2(NAXD):c.794_798dup (p.Val267fs)
|
|
|
NM_001242908.2(RSPO1):c.254del (p.Asp85fs)
|
|
|
NM_001244189.1(KIAA0586):c.2602_2612del11
|
|
|
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg)
|
rs773780151
|
|
NM_001256317.3(TMPRSS3):c.1328T>C (p.Ile443Thr)
|
|
|
NM_001256317.3(TMPRSS3):c.188T>G (p.Leu63Arg)
|
|
|
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)
|
rs727503493
|
|
NM_001256317.3(TMPRSS3):c.297del (p.Asp100fs)
|
|
|
NM_001256317.3(TMPRSS3):c.323-6G>A
|
rs374793617
|
|
NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln)
|
rs2052560214
|
|
NM_001256317.3(TMPRSS3):c.771C>G (p.His257Gln)
|
|
|
NM_001256317.3(TMPRSS3):c.783-1G>T
|
rs1237955948
|
|
NM_001256317.3(TMPRSS3):c.818G>T (p.Gly273Val)
|
|
|
NM_001256317.3(TMPRSS3):c.917C>T (p.Ala306Val)
|
|
|
NM_001256850.1(TTN):c.86916dup (p.Val28973fs)
|
rs730880365
|
|
NM_001267550.2(TTN):c.100018_100022dup (p.Leu33341fs)
|
|
|
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs)
|
rs727503537
|
|
NM_001267550.2(TTN):c.100105C>T (p.Gln33369Ter)
|
rs1553503201
|
|
NM_001267550.2(TTN):c.100112del (p.Thr33371fs)
|
|
|
NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs)
|
rs1553503113
|
|
NM_001267550.2(TTN):c.100135G>T (p.Glu33379Ter)
|
rs1691881913
|
|
NM_001267550.2(TTN):c.100161del (p.Ser33388fs)
|
|
|
NM_001267550.2(TTN):c.100169_100170del (p.Pro33389_Phe33390insTer)
|
|
|
NM_001267550.2(TTN):c.100171+1_100171+2insAAGAGTCCATTTGGAGGCAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
NM_001267550.2(TTN):c.100172-1G>C
|
rs2154137558
|
|
NM_001267550.2(TTN):c.100201_100205del (p.Ile33401fs)
|
|
|
NM_001267550.2(TTN):c.100229_100233del (p.Val33410fs)
|
|
|
NM_001267550.2(TTN):c.100325del (p.Val33442fs)
|
rs1691525574
|
|
NM_001267550.2(TTN):c.100342C>T (p.Arg33448Ter)
|
|
|
NM_001267550.2(TTN):c.100367_100368insGA (p.Asn33456fs)
|
|
|
NM_001267550.2(TTN):c.100367_100368insT (p.Leu33457fs)
|
rs2154137420
|
|
NM_001267550.2(TTN):c.100367del (p.Asn33456fs)
|
rs2154137422
|
|
NM_001267550.2(TTN):c.100369del (p.Ile33458fs)
|
rs2154137417
|
|
NM_001267550.2(TTN):c.100390G>T (p.Glu33464Ter)
|
rs374920916
|
|
NM_001267550.2(TTN):c.100594C>T (p.Gln33532Ter)
|
|
|
NM_001267550.2(TTN):c.100641dup (p.Phe33548fs)
|
rs2154137207
|
|
NM_001267550.2(TTN):c.100701_100702dup (p.Tyr33568fs)
|
rs2154137167
|
|
NM_001267550.2(TTN):c.100723C>T (p.Gln33575Ter)
|
rs2154137150
|
|
NM_001267550.2(TTN):c.100766-1G>T
|
|
|
NM_001267550.2(TTN):c.100766-2A>T
|
rs1364779690
|
|
NM_001267550.2(TTN):c.100791_100792insGTGTACCTAAA (p.Thr33598fs)
|
rs1691180795
|
|
NM_001267550.2(TTN):c.100883_100886dup (p.Trp33629fs)
|
|
|
NM_001267550.2(TTN):c.100906dup (p.Ile33636fs)
|
|
|
NM_001267550.2(TTN):c.100924_100940del (p.Tyr33642fs)
|
|
|
NM_001267550.2(TTN):c.100942_100944delinsT (p.Arg33648fs)
|
rs1559050685
|
|
NM_001267550.2(TTN):c.100947del (p.Phe33650fs)
|
rs1691117338
|
|
NM_001267550.2(TTN):c.101027del (p.Gly33676fs)
|
rs2154136770
|
|
NM_001267550.2(TTN):c.101035C>T (p.Gln33679Ter)
|
rs561471402
|
|
NM_001267550.2(TTN):c.101094_101097del (p.Ser33699fs)
|
rs1691030502
|
|
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs)
|
rs869312122
|
|
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs)
|
rs794729367
|
|
NM_001267550.2(TTN):c.101129G>A (p.Trp33710Ter)
|
|
|
NM_001267550.2(TTN):c.101187T>A (p.Cys33729Ter)
|
|
|
NM_001267550.2(TTN):c.101207G>A (p.Trp33736Ter)
|
rs2154136654
|
|
NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter)
|
rs1559047711
|
|
NM_001267550.2(TTN):c.101230del (p.Glu33744fs)
|
rs1575293252
|
|
NM_001267550.2(TTN):c.101440del (p.Glu33814fs)
|
rs1690880184
|
|
NM_001267550.2(TTN):c.101458_101459del (p.Met33820fs)
|
|
|
NM_001267550.2(TTN):c.101494dup (p.Ile33832fs)
|
rs1559044465
|
|
NM_001267550.2(TTN):c.101567del (p.Asp33856fs)
|
rs1690814987
|
|
NM_001267550.2(TTN):c.101627dup (p.Leu33876fs)
|
rs1690787769
|
|
NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter)
|
rs2154136345
|
|
NM_001267550.2(TTN):c.101665_101668del (p.Leu33888_Val33889insTer)
|
rs2154136319
|
|
NM_001267550.2(TTN):c.101676dup (p.Glu33893Ter)
|
|
|
NM_001267550.2(TTN):c.101687C>A (p.Ser33896Ter)
|
rs376813674
|
|
NM_001267550.2(TTN):c.101694dup (p.Asp33899Ter)
|
|
|
NM_001267550.2(TTN):c.101704G>T (p.Glu33902Ter)
|
|
|
NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter)
|
rs943777958
|
|
NM_001267550.2(TTN):c.101757T>G (p.Tyr33919Ter)
|
|
|
NM_001267550.2(TTN):c.101789del (p.Leu33930fs)
|
rs1575285509
|
|
NM_001267550.2(TTN):c.101793_101794del (p.His33931fs)
|
|
|
NM_001267550.2(TTN):c.101920del (p.Leu33974fs)
|
rs1690665406
|
|
NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)
|
rs1575283255
|
|
NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter)
|
rs534613934
|
|
NM_001267550.2(TTN):c.101985dup (p.Thr33996fs)
|
|
|
NM_001267550.2(TTN):c.101992_101993del (p.Met33998fs)
|
|
|
NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter)
|
rs869312068
|
|
NM_001267550.2(TTN):c.102057del (p.Asn34020fs)
|
rs1690605753
|
|
NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter)
|
rs1060500471
|
|
NM_001267550.2(TTN):c.102176_102177del (p.Lys34059fs)
|
|
|
NM_001267550.2(TTN):c.102205C>T (p.Gln34069Ter)
|
|
|
NM_001267550.2(TTN):c.102234_102237del (p.Arg34079fs)
|
rs754731686
|
|
NM_001267550.2(TTN):c.102269_102270dup (p.Arg34091fs)
|
rs751329439
|
|
NM_001267550.2(TTN):c.102289del (p.Thr34096_Leu34097insTer)
|
rs2154135814
|
|
NM_001267550.2(TTN):c.102300del (p.Asp34101fs)
|
rs2154135804
|
|
NM_001267550.2(TTN):c.102309_102310insCCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGACCTCAAC (p.Met34104delinsProAsnAlaArgTer)
|
rs2154135797
|
|
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter)
|
rs1212204584
|
|
NM_001267550.2(TTN):c.102375del (p.Ala34126fs)
|
rs2154135741
|
|
NM_001267550.2(TTN):c.102388_102397del (p.Val34130fs)
|
|
|
NM_001267550.2(TTN):c.102526C>T (p.Gln34176Ter)
|
|
|
NM_001267550.2(TTN):c.102537_102538del (p.Asn34179fs)
|
|
|
NM_001267550.2(TTN):c.102541G>T (p.Glu34181Ter)
|
|
|
NM_001267550.2(TTN):c.102549C>A (p.Tyr34183Ter)
|
|
|
NM_001267550.2(TTN):c.102585T>A (p.Tyr34195Ter)
|
rs1690344942
|
|
NM_001267550.2(TTN):c.102630_102645dup (p.Gly34216delinsSerSerGlnTer)
|
rs2154135556
|
|
NM_001267550.2(TTN):c.102718_102719del (p.Thr34240fs)
|
rs1559031280
|
|
NM_001267550.2(TTN):c.102744del (p.Asp34249fs)
|
rs2154135500
|
|
NM_001267550.2(TTN):c.102749del (p.Thr34250fs)
|
rs2154135490
|
|
NM_001267550.2(TTN):c.102795TAA[1] (p.Asn34266del)
|
rs886044414
|
|
NM_001267550.2(TTN):c.102796_102798delinsTATA (p.Asn34266fs)
|
rs1060500589
|
|
NM_001267550.2(TTN):c.102872_102878del (p.Trp34291fs)
|
rs2154135366
|
|
NM_001267550.2(TTN):c.102916A>T (p.Lys34306Ter)
|
rs1575269011
|
|
NM_001267550.2(TTN):c.102937_102940dup (p.Gly34314fs)
|
rs2154135311
|
|
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del)
|
rs878854378
|
|
NM_001267550.2(TTN):c.103021G>T (p.Glu34341Ter)
|
|
|
NM_001267550.2(TTN):c.103043_103044insA (p.Thr34349fs)
|
rs1690115787
|
|
NM_001267550.2(TTN):c.103061del (p.Pro34354fs)
|
rs1690111134
|
|
NM_001267550.2(TTN):c.103073_103076dup (p.Ser34359delinsArgTer)
|
rs2154135223
|
|
NM_001267550.2(TTN):c.103155_103156del (p.Arg34385fs)
|
rs1575265345
|
|
NM_001267550.2(TTN):c.103172dup (p.Pro34392fs)
|
|
|
NM_001267550.2(TTN):c.103189del (p.Glu34397fs)
|
rs2154135131
|
|
NM_001267550.2(TTN):c.103317_103320del (p.Asn34440fs)
|
|
|
NM_001267550.2(TTN):c.103336del (p.Ser34446fs)
|
rs1553491793
|
|
NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter)
|
rs1060500505
|
|
NM_001267550.2(TTN):c.103453G>T (p.Glu34485Ter)
|
rs1575259969
|
|
NM_001267550.2(TTN):c.103459_103460del (p.Leu34487fs)
|
rs1689940049
|
|
NM_001267550.2(TTN):c.103489C>T (p.Gln34497Ter)
|
|
|
NM_001267550.2(TTN):c.103518del (p.Ala34507fs)
|
rs1553491220
|
|
NM_001267550.2(TTN):c.103580_103583dup (p.Glu34528fs)
|
|
|
NM_001267550.2(TTN):c.103620T>G (p.Tyr34540Ter)
|
|
|
NM_001267550.2(TTN):c.103638dup (p.Lys34547fs)
|
|
|
NM_001267550.2(TTN):c.103644T>G (p.Tyr34548Ter)
|
|
|
NM_001267550.2(TTN):c.103678A>T (p.Lys34560Ter)
|
|
|
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter)
|
rs1553490574
|
|
NM_001267550.2(TTN):c.103726_103727insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGATACGTG (p.Asp34576delinsGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysAspThrTer)
|
|
|
NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs)
|
rs1689777278
|
|
NM_001267550.2(TTN):c.103765C>T (p.Gln34589Ter)
|
rs749082693
|
|
NM_001267550.2(TTN):c.103814dup (p.Met34606fs)
|
|
|
NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter)
|
rs2154134580
|
|
NM_001267550.2(TTN):c.103846_103849dup (p.Pro34617fs)
|
rs2154134575
|
|
NM_001267550.2(TTN):c.103938_103939del (p.Phe34646fs)
|
rs1689704657
|
|
NM_001267550.2(TTN):c.103943del (p.Tyr34648fs)
|
rs1689700102
|
|
NM_001267550.2(TTN):c.104012T>G (p.Leu34671Ter)
|
|
|
NM_001267550.2(TTN):c.104069del (p.Gly34690fs)
|
rs2154134397
|
|
NM_001267550.2(TTN):c.104081C>G (p.Ser34694Ter)
|
rs886043279
|
|
NM_001267550.2(TTN):c.104170_104174del (p.Lys34724fs)
|
rs2154134297
|
|
NM_001267550.2(TTN):c.104171_104172del (p.Lys34724fs)
|
rs2154134302
|
|
NM_001267550.2(TTN):c.104242G>T (p.Glu34748Ter)
|
|
|
NM_001267550.2(TTN):c.104266A>T (p.Arg34756Ter)
|
|
|
NM_001267550.2(TTN):c.104302_104303del (p.Arg34768fs)
|
|
|
NM_001267550.2(TTN):c.104421_104425del (p.Arg34807fs)
|
rs1689427568
|
|
NM_001267550.2(TTN):c.104484_104487dup (p.Ser34830fs)
|
|
|
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter)
|
rs1553488049
|
|
NM_001267550.2(TTN):c.104609del (p.Asp34870fs)
|
|
|
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter)
|
rs1057518003
|
|
NM_001267550.2(TTN):c.104666_104667del (p.Pro34889fs)
|
rs1689304332
|
|
NM_001267550.2(TTN):c.104668dup (p.Val34890fs)
|
rs2154133906
|
|
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal)
|
rs1689265228
|
|
NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter)
|
rs1559003939
|
|
NM_001267550.2(TTN):c.104779A>T (p.Lys34927Ter)
|
|
|
NM_001267550.2(TTN):c.104861_104876del (p.Pro34954fs)
|
rs1402952523
|
|
NM_001267550.2(TTN):c.104953del (p.Ser34985fs)
|
rs2154133695
|
|
NM_001267550.2(TTN):c.105161del (p.Pro35054fs)
|
|
|
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs)
|
rs770878165
|
|
NM_001267550.2(TTN):c.105241del (p.Glu35081fs)
|
|
|
NM_001267550.2(TTN):c.105288del (p.Ser35095_Tyr35096insTer)
|
|
|
NM_001267550.2(TTN):c.105296_105297del (p.Ser35099fs)
|
|
|
NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter)
|
rs1558995457
|
|
NM_001267550.2(TTN):c.105428del (p.Gly35143fs)
|
rs886042825
|
|
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter)
|
rs886042795
|
|
NM_001267550.2(TTN):c.105486G>A (p.Trp35162Ter)
|
|
|
NM_001267550.2(TTN):c.105614del (p.Asn35205fs)
|
rs2154133153
|
|
NM_001267550.2(TTN):c.105655C>T (p.Gln35219Ter)
|
|
|
NM_001267550.2(TTN):c.105703A>T (p.Lys35235Ter)
|
|
|
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)
|
|
|
NM_001267550.2(TTN):c.105791dup (p.Ser35265fs)
|
rs1688794902
|
|
NM_001267550.2(TTN):c.105804_105805del (p.Glu35268fs)
|
|
|
NM_001267550.2(TTN):c.105810dup (p.Pro35271fs)
|
rs1553484602
|
|
NM_001267550.2(TTN):c.105832C>T (p.Gln35278Ter)
|
|
|
NM_001267550.2(TTN):c.105854dup (p.Pro35286fs)
|
|
|
NM_001267550.2(TTN):c.105898del (p.Ile35300fs)
|
|
|
NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter)
|
rs1575219172
|
|
NM_001267550.2(TTN):c.105997_105998del (p.Gln35333fs)
|
|
|
NM_001267550.2(TTN):c.106015del (p.Asp35339fs)
|
rs1558988204
|
|
NM_001267550.2(TTN):c.106019del (p.Gly35340fs)
|
rs727504482
|
|
NM_001267550.2(TTN):c.106049del (p.Thr35350fs)
|
rs1250336644
|
|
NM_001267550.2(TTN):c.106117C>T (p.Gln35373Ter)
|
rs778126842
|
|
NM_001267550.2(TTN):c.106157dup (p.Ser35387fs)
|
|
|
NM_001267550.2(TTN):c.106189C>T (p.Gln35397Ter)
|
|
|
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
|
|
|
NM_001267550.2(TTN):c.106374+1del
|
rs763404256
|
|
NM_001267550.2(TTN):c.106374G>A (p.Lys35458=)
|
rs2154132585
|
|
NM_001267550.2(TTN):c.106487dup (p.Asn35496fs)
|
rs2154132395
|
|
NM_001267550.2(TTN):c.106531+1G>A
|
rs760915007
|
|
NM_001267550.2(TTN):c.106531G>C (p.Ala35511Pro)
|
|
|
NM_001267550.2(TTN):c.106698del (p.Ala35567fs)
|
|
|
NM_001267550.2(TTN):c.106740del (p.Ala35581fs)
|
rs2154131505
|
|
NM_001267550.2(TTN):c.106768dup (p.His35590fs)
|
rs1687796533
|
|
NM_001267550.2(TTN):c.106773_106780del (p.Glu35591fs)
|
|
|
NM_001267550.2(TTN):c.106828A>T (p.Lys35610Ter)
|
rs753984036
|
|
NM_001267550.2(TTN):c.106978C>T (p.Gln35660Ter)
|
|
|
NM_001267550.2(TTN):c.106996C>T (p.Gln35666Ter)
|
rs750660824
|
|
NM_001267550.2(TTN):c.107006del (p.His35669fs)
|
|
|
NM_001267550.2(TTN):c.107033dup (p.Ser35679fs)
|
rs2154131263
|
|
NM_001267550.2(TTN):c.107065_107068del (p.Gln35689fs)
|
rs2154131227
|
|
NM_001267550.2(TTN):c.107153dup (p.Asn35718fs)
|
|
|
NM_001267550.2(TTN):c.107202_107203del (p.Trp35735fs)
|
rs1575189496
|
|
NM_001267550.2(TTN):c.107204G>A (p.Trp35735Ter)
|
|
|
NM_001267550.2(TTN):c.107223+1G>A
|
rs876658102
|
|
NM_001267550.2(TTN):c.107223+2T>C
|
|
|
NM_001267550.2(TTN):c.107224-1G>C
|
rs112720067
|
|
NM_001267550.2(TTN):c.107224-2A>G
|
rs111401822
|
|
NM_001267550.2(TTN):c.107312_107315del (p.Lys35771fs)
|
|
|
NM_001267550.2(TTN):c.107312dup (p.Tyr35772fs)
|
rs2154130897
|
|
NM_001267550.2(TTN):c.107322del (p.Lys35775fs)
|
rs2154130886
|
|
NM_001267550.2(TTN):c.107343_107346del (p.Gln35782fs)
|
|
|
NM_001267550.2(TTN):c.107344C>T (p.Gln35782Ter)
|
|
|
NM_001267550.2(TTN):c.107351C>A (p.Ser35784Ter)
|
rs1575185742
|
|
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter)
|
rs1575185742
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
NM_001267550.2(TTN):c.107460_107463dup (p.Gln35822fs)
|
rs886042246
|
|
NM_001267550.2(TTN):c.107617G>T (p.Gly35873Ter)
|
|
|
NM_001267550.2(TTN):c.107644del (p.Ser35882fs)
|
rs1179955071
|
|
NM_001267550.2(TTN):c.107789G>A (p.Trp35930Ter)
|
rs1278698690
|
|
NM_001267550.2(TTN):c.107800G>T (p.Gly35934Ter)
|
rs368277535
|
|
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)
|
rs281864928
|
|
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)
|
rs267607156
|
|
NM_001267550.2(TTN):c.107957T>C (p.Ile35986Thr)
|
rs1060500541
|
|
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter)
|
rs2082478614
|
|
NM_001267550.2(TTN):c.11880dup (p.Val3961fs)
|
|
|
NM_001267550.2(TTN):c.12218_12222dup (p.Val4075fs)
|
|
|
NM_001267550.2(TTN):c.12319del (p.Leu4107fs)
|
rs2154318463
|
|
NM_001267550.2(TTN):c.12850C>T (p.Gln4284Ter)
|
rs2082282118
|
|
NM_001267550.2(TTN):c.12887C>A (p.Ser4296Ter)
|
|
|
NM_001267550.2(TTN):c.13058del (p.Pro4353fs)
|
rs1408345511
|
|
NM_001267550.2(TTN):c.13085_13086del (p.Glu4362fs)
|
rs2154317985
|
|
NM_001267550.2(TTN):c.13117C>T (p.Gln4373Ter)
|
rs1064793411
|
|
NM_001267550.2(TTN):c.13450del (p.Glu4484fs)
|
rs2082158844
|
|
NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)
|
|
|
NM_001267550.2(TTN):c.13817_13818dup (p.Met4607fs)
|
|
|
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter)
|
rs1313233245
|
|
NM_001267550.2(TTN):c.13943_13947dup (p.Phe4650fs)
|
rs767038068
|
|
NM_001267550.2(TTN):c.1398+1G>A
|
|
|
NM_001267550.2(TTN):c.14198G>A (p.Trp4733Ter)
|
rs1574050861
|
|
NM_001267550.2(TTN):c.14245C>T (p.Arg4749Ter)
|
rs1553934752
|
|
NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter)
|
|
|
NM_001267550.2(TTN):c.14310T>A (p.Tyr4770Ter)
|
|
|
NM_001267550.2(TTN):c.14372-2A>C
|
rs747942388
|
|
NM_001267550.2(TTN):c.14372-2A>G
|
|
|
NM_001267550.2(TTN):c.15177_15181delinsAGTACT (p.Asp5059fs)
|
|
|
NM_001267550.2(TTN):c.15496+1G>T
|
rs397517481
|
|
NM_001267550.2(TTN):c.17506dup (p.Gln5836fs)
|
|
|
NM_001267550.2(TTN):c.17967C>G (p.Tyr5989Ter)
|
rs2154308240
|
|
NM_001267550.2(TTN):c.18718C>T (p.Arg6240Ter)
|
|
|
NM_001267550.2(TTN):c.19426+2T>A
|
rs727505178
|
|
NM_001267550.2(TTN):c.19709_19710del (p.Val6570fs)
|
|
|
NM_001267550.2(TTN):c.20449del (p.Ser6817fs)
|
rs2079254006
|
|
NM_001267550.2(TTN):c.20836+1G>T
|
|
|
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter)
|
rs727505277
|
|
NM_001267550.2(TTN):c.21961G>T (p.Glu7321Ter)
|
|
|
NM_001267550.2(TTN):c.22973C>A (p.Ser7658Ter)
|
|
|
NM_001267550.2(TTN):c.23099-2A>G
|
rs2154300788
|
|
NM_001267550.2(TTN):c.23998del (p.Ala8000fs)
|
rs2154300048
|
|
NM_001267550.2(TTN):c.24611G>A (p.Trp8204Ter)
|
|
|
NM_001267550.2(TTN):c.25063+1G>A
|
rs754247415
|
|
NM_001267550.2(TTN):c.25219C>T (p.Gln8407Ter)
|
|
|
NM_001267550.2(TTN):c.26067C>G (p.Tyr8689Ter)
|
rs377125716
|
|
NM_001267550.2(TTN):c.26482G>T (p.Glu8828Ter)
|
rs778206438
|
|
NM_001267550.2(TTN):c.26926del (p.Thr8975_Leu8976insTer)
|
rs2154296486
|
|
NM_001267550.2(TTN):c.27329-1del
|
|
|
NM_001267550.2(TTN):c.28049C>A (p.Ser9350Ter)
|
|
|
NM_001267550.2(TTN):c.28174+1G>T
|
rs1577824925
|
|
NM_001267550.2(TTN):c.28462+1G>T
|
rs2076520917
|
|
NM_001267550.2(TTN):c.29542C>T (p.Arg9848Ter)
|
|
|
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs)
|
rs777924443
|
|
NM_001267550.2(TTN):c.29863C>T (p.Arg9955Ter)
|
|
|
NM_001267550.2(TTN):c.29914C>T (p.Arg9972Ter)
|
|
|
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)
|
rs397517547
|
|
NM_001267550.2(TTN):c.31402C>T (p.Gln10468Ter)
|
|
|
NM_001267550.2(TTN):c.31519_31523dup (p.Gln10509fs)
|
rs2154281189
|
|
NM_001267550.2(TTN):c.31762+1G>T
|
|
|
NM_001267550.2(TTN):c.32092C>T (p.Arg10698Ter)
|
rs1396898734
|
|
NM_001267550.2(TTN):c.32274_32277del (p.Glu10759fs)
|
|
|
NM_001267550.2(TTN):c.32470+2T>C
|
|
|
NM_001267550.2(TTN):c.32700dup (p.Glu10901fs)
|
|
|
NM_001267550.2(TTN):c.32887+1G>T
|
rs546105899
|
|
NM_001267550.2(TTN):c.33418+2T>A
|
rs779749654
|
|
NM_001267550.2(TTN):c.3425dup (p.Ile1143fs)
|
|
|
NM_001267550.2(TTN):c.34379-1G>C
|
|
|
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg)
|
rs1554015228
|
|
NM_001267550.2(TTN):c.35123del (p.His11708fs)
|
|
|
NM_001267550.2(TTN):c.35321_35322del (p.Pro11774fs)
|
|
|
NM_001267550.2(TTN):c.35630-1G>C
|
rs2154262004
|
|
NM_001267550.2(TTN):c.36003del (p.Phe12001fs)
|
|
|
NM_001267550.2(TTN):c.36267_36280+16del
|
rs745871962
|
|
NM_001267550.2(TTN):c.36364+1G>C
|
|
|
NM_001267550.2(TTN):c.36365-1G>A
|
rs577672565
|
|
NM_001267550.2(TTN):c.3664C>T (p.Gln1222Ter)
|
rs1227198694
|
|
NM_001267550.2(TTN):c.3729+1G>A
|
rs781562337
|
|
NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter)
|
rs750990843
|
|
NM_001267550.2(TTN):c.39212-1G>A
|
|
|
NM_001267550.2(TTN):c.39251del (p.Val13084fs)
|
|
|
NM_001267550.2(TTN):c.39709+1G>A
|
|
|
NM_001267550.2(TTN):c.39895+1G>A
|
rs749931280
|
|
NM_001267550.2(TTN):c.40297+1G>A
|
|
|
NM_001267550.2(TTN):c.40437del (p.Lys13479fs)
|
|
|
NM_001267550.2(TTN):c.4057_4058del (p.Val1353fs)
|
|
|
NM_001267550.2(TTN):c.40652del (p.Pro13551fs)
|
|
|
NM_001267550.2(TTN):c.40940dup (p.Thr13648fs)
|
|
|
NM_001267550.2(TTN):c.41406C>A (p.Cys13802Ter)
|
|
|
NM_001267550.2(TTN):c.41483del (p.Pro13828fs)
|
rs876657664
|
|
NM_001267550.2(TTN):c.41885-3_41885del
|
rs2154229192
|
|
NM_001267550.2(TTN):c.41937del (p.Glu13980fs)
|
|
|
NM_001267550.2(TTN):c.41941dup (p.Ser13981fs)
|
|
|
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter)
|
rs2060187635
|
|
NM_001267550.2(TTN):c.42208C>T (p.Gln14070Ter)
|
rs2154227697
|
|
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)
|
rs797046064
|
|
NM_001267550.2(TTN):c.42919_42923del (p.Lys14307fs)
|
rs1060500566
|
|
NM_001267550.2(TTN):c.4293del (p.Met1432fs)
|
|
|
NM_001267550.2(TTN):c.43269del (p.Asp14423fs)
|
|
|
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter)
|
rs776970935
|
|
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs)
|
rs397517576
|
|
NM_001267550.2(TTN):c.45156T>A (p.Cys15052Ter)
|
rs1060500487
|
|
NM_001267550.2(TTN):c.45383del (p.Asn15128fs)
|
|
|
NM_001267550.2(TTN):c.45459del (p.Arg15154fs)
|
|
|
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs)
|
rs1131691910
|
|
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
|
|
|
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter)
|
rs764654357
|
|
NM_001267550.2(TTN):c.46609C>T (p.Gln15537Ter)
|
rs1131691528
|
|
NM_001267550.2(TTN):c.46816G>T (p.Glu15606Ter)
|
|
|
NM_001267550.2(TTN):c.46843dup (p.Thr15615fs)
|
rs1553712292
|
|
NM_001267550.2(TTN):c.46865del (p.Phe15622fs)
|
|
|
NM_001267550.2(TTN):c.46986dup (p.Asn15663Ter)
|
rs2154209578
|
|
NM_001267550.2(TTN):c.47040del (p.Glu15680fs)
|
rs2057734561
|
|
NM_001267550.2(TTN):c.47112G>A (p.Trp15704Ter)
|
|
|
NM_001267550.2(TTN):c.47142_47143del (p.Cys15714_Glu15715delinsTer)
|
rs869312107
|
|
NM_001267550.2(TTN):c.47143_47146dup (p.Phe15716Ter)
|
rs1422071853
|
|
NM_001267550.2(TTN):c.47195dup (p.Ser15733fs)
|
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.47269+2T>C
|
rs1060500419
|
|
NM_001267550.2(TTN):c.47285del (p.Pro15762fs)
|
|
|
NM_001267550.2(TTN):c.47379C>A (p.Tyr15793Ter)
|
|
|
NM_001267550.2(TTN):c.47379C>G (p.Tyr15793Ter)
|
|
|
NM_001267550.2(TTN):c.47384_47385insCT (p.Glu15796fs)
|
|
|
NM_001267550.2(TTN):c.47398_47402dup (p.Ser15802fs)
|
|
|
NM_001267550.2(TTN):c.47407del (p.Ile15803fs)
|
rs2154209120
|
|
NM_001267550.2(TTN):c.47414G>A (p.Trp15805Ter)
|
|
|
NM_001267550.2(TTN):c.47487C>A (p.Tyr15829Ter)
|
rs2057643696
|
|
NM_001267550.2(TTN):c.47487_47488del (p.Tyr15829_Ser15830delinsTer)
|
rs1447249014
|
|
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)
|
rs397517589
|
|
NM_001267550.2(TTN):c.47512C>T (p.Arg15838Ter)
|
rs762271078
|
|
NM_001267550.2(TTN):c.47573-1G>A
|
|
|
NM_001267550.2(TTN):c.47573-1G>C
|
|
|
NM_001267550.2(TTN):c.47576_47577delGA
|
rs1060500489
|
|
NM_001267550.2(TTN):c.47579del (p.Pro15860fs)
|
rs2154208767
|
|
NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter)
|
rs886044009
|
|
NM_001267550.2(TTN):c.47639G>A (p.Trp15880Ter)
|
|
|
NM_001267550.2(TTN):c.47660_47663del (p.Gly15887fs)
|
|
|
NM_001267550.2(TTN):c.47674_47680dup (p.Tyr15894fs)
|
|
|
NM_001267550.2(TTN):c.47688del (p.Ile15896fs)
|
|
|
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter)
|
rs775186117
|
|
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter)
|
rs373040154
|
|
NM_001267550.2(TTN):c.47701G>T (p.Glu15901Ter)
|
rs530338718
|
|
NM_001267550.2(TTN):c.47708_47709del (p.Lys15903fs)
|
|
|
NM_001267550.2(TTN):c.47760+1G>A
|
rs2154208642
|
|
NM_001267550.2(TTN):c.47761-2A>T
|
|
|
NM_001267550.2(TTN):c.47786_47789del (p.Lys15929fs)
|
rs2154208514
|
|
NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter)
|
rs2057499255
|
|
NM_001267550.2(TTN):c.47808del (p.Glu15937fs)
|
|
|
NM_001267550.2(TTN):c.47885dup (p.Met15963fs)
|
rs2057454001
|
|
NM_001267550.2(TTN):c.47894T>A (p.Leu15965Ter)
|
rs878982457
|
|
NM_001267550.2(TTN):c.47988G>A (p.Trp15996Ter)
|
|
|
NM_001267550.2(TTN):c.48002_48006dup (p.Leu16003fs)
|
rs2154208302
|
|
NM_001267550.2(TTN):c.48110T>A (p.Leu16037Ter)
|
|
|
NM_001267550.2(TTN):c.48142del (p.Ile16048fs)
|
|
|
NM_001267550.2(TTN):c.48157_48158del (p.Ile16053fs)
|
rs2154208239
|
|
NM_001267550.2(TTN):c.48167del (p.Pro16056fs)
|
rs1443466576
|
|
NM_001267550.2(TTN):c.48177del (p.Glu16061fs)
|
|
|
NM_001267550.2(TTN):c.48181G>T (p.Glu16061Ter)
|
|
|
NM_001267550.2(TTN):c.48223_48227dup (p.Trp16076Ter)
|
|
|
NM_001267550.2(TTN):c.48227_48229delinsAAA (p.Trp16076_Glu16077delinsTer)
|
rs1553706971
|
|
NM_001267550.2(TTN):c.48229del (p.Glu16077fs)
|
|
|
NM_001267550.2(TTN):c.48233del (p.Pro16078fs)
|
|
|
NM_001267550.2(TTN):c.48248_48251del (p.Gly16083fs)
|
|
|
NM_001267550.2(TTN):c.48264del (p.Gly16089fs)
|
rs2154208052
|
|
NM_001267550.2(TTN):c.48312+2T>C
|
rs2057367803
|
|
NM_001267550.2(TTN):c.48313-1G>A
|
rs2154207046
|
|
NM_001267550.2(TTN):c.48320_48323dup (p.Phe16108fs)
|
|
|
NM_001267550.2(TTN):c.48369dup (p.Glu16124fs)
|
rs1553705557
|
|
NM_001267550.2(TTN):c.48379_48382del (p.Phe16127fs)
|
rs1064796347
|
|
NM_001267550.2(TTN):c.48433G>T (p.Glu16145Ter)
|
|
|
NM_001267550.2(TTN):c.48461-1G>A
|
rs2154206288
|
|
NM_001267550.2(TTN):c.48461-2A>C
|
rs1553705079
|
|
NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter)
|
rs1312425985
|
|
NM_001267550.2(TTN):c.48502del (p.Thr16168fs)
|
|
|
NM_001267550.2(TTN):c.48521T>G (p.Leu16174Ter)
|
|
|
NM_001267550.2(TTN):c.48542dup (p.Asn16181fs)
|
rs1576472316
|
|
NM_001267550.2(TTN):c.48550_48553dup (p.Ser16185fs)
|
rs2154205990
|
|
NM_001267550.2(TTN):c.48605G>A (p.Trp16202Ter)
|
|
|
NM_001267550.2(TTN):c.48606G>A (p.Trp16202Ter)
|
|
|
NM_001267550.2(TTN):c.48629del (p.Ala16210fs)
|
rs2057135958
|
|
NM_001267550.2(TTN):c.48634del (p.Thr16212fs)
|
rs2154205763
|
|
NM_001267550.2(TTN):c.48698dup (p.Asn16233fs)
|
rs2057026455
|
|
NM_001267550.2(TTN):c.48759del (p.Glu16254fs)
|
rs2057015875
|
|
NM_001267550.2(TTN):c.48760+1G>A
|
|
|
NM_001267550.2(TTN):c.48760+1G>C
|
|
|
NM_001267550.2(TTN):c.48760+1G>T
|
|
|
NM_001267550.2(TTN):c.48760+2T>C
|
|
|
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)
|
|
|
NM_001267550.2(TTN):c.48767dup (p.Glu16257fs)
|
|
|
NM_001267550.2(TTN):c.48808_48809del (p.Val16270fs)
|
|
|
NM_001267550.2(TTN):c.48832del (p.Leu16278fs)
|
|
|
NM_001267550.2(TTN):c.48913_48916dup (p.Thr16306fs)
|
|
|
NM_001267550.2(TTN):c.49004dup (p.Asn16335fs)
|
rs1576461647
|
|
NM_001267550.2(TTN):c.49011_49012del (p.Cys16337fs)
|
|
|
NM_001267550.2(TTN):c.49048+1G>A
|
|
|
NM_001267550.2(TTN):c.49049-1G>C
|
rs868064056
|
|
NM_001267550.2(TTN):c.49049-2A>C
|
|
|
NM_001267550.2(TTN):c.49101_49102del (p.Cys16368fs)
|
rs1576457869
|
|
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)
|
rs570046043
|
|
NM_001267550.2(TTN):c.49187_49191dup (p.Trp16398fs)
|
|
|
NM_001267550.2(TTN):c.49345+1G>T
|
|
|
NM_001267550.2(TTN):c.49345+2T>C
|
rs1559805633
|
|
NM_001267550.2(TTN):c.49346-1G>A
|
rs869312070
|
|
NM_001267550.2(TTN):c.49413G>A (p.Trp16471Ter)
|
rs202094100
|
|
NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter)
|
|
|
NM_001267550.2(TTN):c.49525dup (p.Thr16509fs)
|
rs2154201255
|
|
NM_001267550.2(TTN):c.49533-1G>C
|
|
|
NM_001267550.2(TTN):c.49533-2A>G
|
|
|
NM_001267550.2(TTN):c.49648+1G>A
|
|
|
NM_001267550.2(TTN):c.49648+1G>T
|
|
|
NM_001267550.2(TTN):c.49649-2A>T
|
rs2154200803
|
|
NM_001267550.2(TTN):c.49666G>T (p.Gly16556Ter)
|
|
|
NM_001267550.2(TTN):c.49685del (p.Asp16562fs)
|
|
|
NM_001267550.2(TTN):c.49700C>A (p.Ser16567Ter)
|
|
|
NM_001267550.2(TTN):c.49749dup (p.Glu16584Ter)
|
rs2056619632
|
|
NM_001267550.2(TTN):c.49758T>G (p.Tyr16586Ter)
|
rs72677247
|
|
NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter)
|
|
|
NM_001267550.2(TTN):c.4979T>G (p.Leu1660Ter)
|
|
|
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter)
|
rs1553699454
|
|
NM_001267550.2(TTN):c.49863C>A (p.Tyr16621Ter)
|
rs1553699440
|
|
NM_001267550.2(TTN):c.49863C>G (p.Tyr16621Ter)
|
rs794729264
|
|
NM_001267550.2(TTN):c.49874_49877dup (p.Arg16626delinsSerTer)
|
rs2056596896
|
|
NM_001267550.2(TTN):c.49948+2T>G
|
|
|
NM_001267550.2(TTN):c.49948+2_49948+10del
|
rs2056581815
|
|
NM_001267550.2(TTN):c.49949-1G>T
|
|
|
NM_001267550.2(TTN):c.49964del (p.Pro16655fs)
|
|
|
NM_001267550.2(TTN):c.49970G>A (p.Trp16657Ter)
|
rs2154200456
|
|
NM_001267550.2(TTN):c.50016G>A (p.Trp16672Ter)
|
rs2154200433
|
|
NM_001267550.2(TTN):c.50074_50075del (p.Asp16692fs)
|
rs1060500513
|
|
NM_001267550.2(TTN):c.50094G>A (p.Trp16698Ter)
|
|
|
NM_001267550.2(TTN):c.50095C>T (p.Gln16699Ter)
|
rs2056504499
|
|
NM_001267550.2(TTN):c.50098dup (p.Thr16700fs)
|
|
|
NM_001267550.2(TTN):c.50163T>G (p.Tyr16721Ter)
|
|
|
NM_001267550.2(TTN):c.50281_50284del (p.Val16761fs)
|
|
|
NM_001267550.2(TTN):c.50316G>A (p.Trp16772Ter)
|
rs1433307898
|
|
NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter)
|
rs72677249
|
|
NM_001267550.2(TTN):c.50467C>T (p.Gln16823Ter)
|
|
|
NM_001267550.2(TTN):c.50467_50468del (p.Gln16823fs)
|
|
|
NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer)
|
rs1553696967
|
|
NM_001267550.2(TTN):c.50552-1G>A
|
|
|
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)
|
rs397517601
|
|
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter)
|
rs2056330918
|
|
NM_001267550.2(TTN):c.50692A>T (p.Lys16898Ter)
|
|
|
NM_001267550.2(TTN):c.50746del (p.Glu16916fs)
|
|
|
NM_001267550.2(TTN):c.50787_50788del (p.Arg16929fs)
|
|
|
NM_001267550.2(TTN):c.50857+1G>A
|
rs2154199718
|
|
NM_001267550.2(TTN):c.50859C>A (p.Cys16953Ter)
|
rs2154199623
|
|
NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter)
|
rs794729268
|
|
NM_001267550.2(TTN):c.50914_50918del (p.Leu16972fs)
|
rs2056249919
|
|
NM_001267550.2(TTN):c.50994_50997dup (p.Arg17000Ter)
|
rs1413836585
|
|
NM_001267550.2(TTN):c.51037G>T (p.Glu17013Ter)
|
rs1060500500
|
|
NM_001267550.2(TTN):c.51060dup (p.Asp17021fs)
|
rs2154199483
|
|
NM_001267550.2(TTN):c.51136+1del
|
rs2154199433
|
|
NM_001267550.2(TTN):c.51193A>T (p.Lys17065Ter)
|
|
|
NM_001267550.2(TTN):c.51203_51224dup (p.Thr17077_Pro17078insSerArgIleTerGlyThr)
|
rs2154198963
|
|
NM_001267550.2(TTN):c.51229_51230del (p.Thr17077fs)
|
rs2056008282
|
|
NM_001267550.2(TTN):c.51234_51237dup (p.Leu17080fs)
|
rs1553693444
|
|
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter)
|
rs906494713
|
|
NM_001267550.2(TTN):c.51444del (p.Asp17149fs)
|
rs1362409861
|
|
NM_001267550.2(TTN):c.51449del (p.Pro17150fs)
|
rs2055912067
|
|
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs)
|
rs886043718
|
|
NM_001267550.2(TTN):c.51524dup (p.Gly17176fs)
|
|
|
NM_001267550.2(TTN):c.51525del (p.Ser17177fs)
|
rs1553692435
|
|
NM_001267550.2(TTN):c.51544_51545del (p.Tyr17182fs)
|
|
|
NM_001267550.2(TTN):c.51574G>T (p.Glu17192Ter)
|
|
|
NM_001267550.2(TTN):c.51576_51577del (p.Arg17193fs)
|
rs2154198710
|
|
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer)
|
rs1553692107
|
|
NM_001267550.2(TTN):c.51648del (p.Glu17217fs)
|
rs1553692140
|
|
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter)
|
rs1060500503
|
|
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter)
|
rs748956593
|
|
NM_001267550.2(TTN):c.51739+1G>C
|
rs727504799
|
|
NM_001267550.2(TTN):c.51782del (p.Arg17261fs)
|
rs2154198520
|
|
NM_001267550.2(TTN):c.51833_51848del (p.Thr17278fs)
|
rs794729391
|
|
NM_001267550.2(TTN):c.51834_51838dup (p.Thr17280fs)
|
rs2154198494
|
|
NM_001267550.2(TTN):c.51843G>A (p.Trp17281Ter)
|
rs1559759828
|
|
NM_001267550.2(TTN):c.51870del (p.Glu17291fs)
|
rs1553691320
|
|
NM_001267550.2(TTN):c.51871G>T (p.Glu17291Ter)
|
|
|
NM_001267550.2(TTN):c.51913A>T (p.Lys17305Ter)
|
|
|
NM_001267550.2(TTN):c.51913_51916del (p.Lys17305fs)
|
rs747513278
|
|
NM_001267550.2(TTN):c.51919G>T (p.Glu17307Ter)
|
rs2154198436
|
|
NM_001267550.2(TTN):c.51925C>T (p.Gln17309Ter)
|
|
|
NM_001267550.2(TTN):c.51931G>T (p.Glu17311Ter)
|
rs2154198430
|
|
NM_001267550.2(TTN):c.51958C>T (p.Gln17320Ter)
|
rs2055753321
|
|
NM_001267550.2(TTN):c.51965dup (p.Leu17322fs)
|
|
|
NM_001267550.2(TTN):c.52063_52064insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATNNNNNNNNNNNNGAAAATGACC (p.Asp17354_His17355insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspXaaXaaXaaXaaGluAsnAsp)
|
rs2154198326
|
|
NM_001267550.2(TTN):c.52077A>T (p.Lys17359Asn)
|
rs1167384081
|
|
NM_001267550.2(TTN):c.52103-1G>A
|
rs2154197995
|
|
NM_001267550.2(TTN):c.52150dup (p.Thr17384fs)
|
rs2154197954
|
|
NM_001267550.2(TTN):c.52226_52227del (p.Lys17409fs)
|
rs2055549415
|
|
NM_001267550.2(TTN):c.52226_52229del (p.Lys17409fs)
|
rs727503615
|
|
NM_001267550.2(TTN):c.52233_52237del (p.Lys17413fs)
|
rs2055544893
|
|
NM_001267550.2(TTN):c.52316_52317dup (p.Glu17440fs)
|
|
|
NM_001267550.2(TTN):c.52317dup (p.Glu17440fs)
|
|
|
NM_001267550.2(TTN):c.52358del (p.Pro17453fs)
|
rs2154197774
|
|
NM_001267550.2(TTN):c.52405+1G>T
|
|
|
NM_001267550.2(TTN):c.52405+2T>C
|
|
|
NM_001267550.2(TTN):c.52473G>A (p.Trp17491Ter)
|
rs794729271
|
|
NM_001267550.2(TTN):c.52499_52504delinsAGTAA (p.Pro17500_Leu17502delinsGlnTer)
|
rs1559748217
|
|
NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter)
|
rs1559748120
|
|
NM_001267550.2(TTN):c.52546del (p.Trp17516fs)
|
|
|
NM_001267550.2(TTN):c.52551del (p.Arg17518fs)
|
|
|
NM_001267550.2(TTN):c.52567del (p.Leu17523fs)
|
|
|
NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer)
|
rs1064792915
|
|
NM_001267550.2(TTN):c.52604T>G (p.Leu17535Ter)
|
|
|
NM_001267550.2(TTN):c.52619_52620del (p.Tyr17540fs)
|
|
|
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
|
|
|
NM_001267550.2(TTN):c.52706-1G>C
|
rs2055351447
|
|
NM_001267550.2(TTN):c.52706-1G>T
|
|
|
NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs)
|
rs878854315
|
|
NM_001267550.2(TTN):c.52736del (p.Thr17579fs)
|
rs2154197312
|
|
NM_001267550.2(TTN):c.52767dup (p.Trp17590fs)
|
rs2154197298
|
|
NM_001267550.2(TTN):c.52778del (p.Pro17593fs)
|
|
|
NM_001267550.2(TTN):c.52801del (p.Ile17601fs)
|
rs2154197283
|
|
NM_001267550.2(TTN):c.52825del (p.Gln17609fs)
|
rs2055323171
|
|
NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter)
|
rs2055319182
|
|
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter)
|
rs2154197219
|
|
NM_001267550.2(TTN):c.52924_52930dup (p.Val17644fs)
|
rs2055292474
|
|
NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter)
|
rs2154197188
|
|
NM_001267550.2(TTN):c.53003-1G>C
|
rs2154197076
|
|
NM_001267550.2(TTN):c.53012_53030del (p.Ala17671fs)
|
|
|
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)
|
|
|
NM_001267550.2(TTN):c.53041G>T (p.Gly17681Ter)
|
|
|
NM_001267550.2(TTN):c.53047C>T (p.Gln17683Ter)
|
rs2154197059
|
|
NM_001267550.2(TTN):c.53068_53069del (p.Thr17689_Leu17690insTer)
|
rs2154197040
|
|
NM_001267550.2(TTN):c.53182G>T (p.Glu17728Ter)
|
|
|
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter)
|
rs571702144
|
|
NM_001267550.2(TTN):c.53259del (p.Lys17753fs)
|
rs1389777522
|
|
NM_001267550.2(TTN):c.53287+1G>A
|
rs1064794266
|
|
NM_001267550.2(TTN):c.53315_53316del (p.Lys17772fs)
|
rs2154196835
|
|
NM_001267550.2(TTN):c.53354G>A (p.Trp17785Ter)
|
|
|
NM_001267550.2(TTN):c.53359del (p.Asp17787fs)
|
rs2055103568
|
|
NM_001267550.2(TTN):c.53374G>T (p.Gly17792Ter)
|
rs2055101555
|
|
NM_001267550.2(TTN):c.53456_53457del (p.Arg17819fs)
|
|
|
NM_001267550.2(TTN):c.53526del (p.Lys17842fs)
|
rs2154196732
|
|
NM_001267550.2(TTN):c.53564_53581+6del
|
|
|
NM_001267550.2(TTN):c.53581+1del
|
|
|
NM_001267550.2(TTN):c.53582-1G>A
|
rs2054612323
|
|
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)
|
rs1131691381
|
|
NM_001267550.2(TTN):c.53602_53603del (p.Arg17868fs)
|
|
|
NM_001267550.2(TTN):c.53616del (p.Glu17873fs)
|
|
|
NM_001267550.2(TTN):c.53703dup (p.Arg17902fs)
|
rs1576340321
|
|
NM_001267550.2(TTN):c.53770del (p.Val17924fs)
|
rs1559723763
|
|
NM_001267550.2(TTN):c.53789_53790del (p.His17930fs)
|
|
|
NM_001267550.2(TTN):c.53824G>T (p.Glu17942Ter)
|
rs2054564830
|
|
NM_001267550.2(TTN):c.53831del (p.Gly17944fs)
|
|
|
NM_001267550.2(TTN):c.53848dup (p.Leu17950fs)
|
rs1553682760
|
|
NM_001267550.2(TTN):c.53914C>T (p.Arg17972Ter)
|
|
|
NM_001267550.2(TTN):c.53997dup (p.Trp18000fs)
|
|
|
NM_001267550.2(TTN):c.54000G>A (p.Trp18000Ter)
|
rs72646813
|
|
NM_001267550.2(TTN):c.54037del (p.Ala18013fs)
|
|
|
NM_001267550.2(TTN):c.54112del (p.Glu18038fs)
|
rs794729325
|
|
NM_001267550.2(TTN):c.54190+1G>A
|
rs756339648
|
|
NM_001267550.2(TTN):c.54228del (p.Asp18076fs)
|
|
|
NM_001267550.2(TTN):c.54257G>A (p.Trp18086Ter)
|
rs2154195201
|
|
NM_001267550.2(TTN):c.54314_54381+139delinsATAAGG
|
rs1576327348
|
|
NM_001267550.2(TTN):c.54320dup (p.Ser18108fs)
|
rs2054384043
|
|
NM_001267550.2(TTN):c.54378T>A (p.Tyr18126Ter)
|
rs769624146
|
|
NM_001267550.2(TTN):c.54387G>A (p.Trp18129Ter)
|
rs1576323463
|
|
NM_001267550.2(TTN):c.54427del (p.Ala18143fs)
|
|
|
NM_001267550.2(TTN):c.54481C>T (p.Gln18161Ter)
|
rs2054207747
|
|
NM_001267550.2(TTN):c.54500_54509del (p.Pro18167fs)
|
|
|
NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)
|
|
|
NM_001267550.2(TTN):c.54529del (p.Ala18177fs)
|
|
|
NM_001267550.2(TTN):c.54560G>A (p.Trp18187Ter)
|
rs794729274
|
|
NM_001267550.2(TTN):c.54588_54589del (p.Pro18197fs)
|
|
|
NM_001267550.2(TTN):c.54605G>A (p.Trp18202Ter)
|
rs2154194712
|
|
NM_001267550.2(TTN):c.54620_54624del (p.Glu18207fs)
|
rs2054170313
|
|
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter)
|
rs397517620
|
|
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)
|
rs727503602
|
|
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
|
|
|
NM_001267550.2(TTN):c.5477del (p.Gly1826fs)
|
rs2154346135
|
|
NM_001267550.2(TTN):c.54793del (p.Val18265fs)
|
rs2154194616
|
|
NM_001267550.2(TTN):c.54809dup (p.Phe18271fs)
|
rs1553679072
|
|
NM_001267550.2(TTN):c.54811+1G>A
|
rs1205836993
|
|
NM_001267550.2(TTN):c.54812-1G>C
|
|
|
NM_001267550.2(TTN):c.54812-1G>T
|
rs1416873295
|
|
NM_001267550.2(TTN):c.54856A>T (p.Lys18286Ter)
|
|
|
NM_001267550.2(TTN):c.54957G>A (p.Trp18319Ter)
|
rs2053697356
|
|
NM_001267550.2(TTN):c.54999dup (p.Cys18334fs)
|
|
|
NM_001267550.2(TTN):c.55036A>T (p.Arg18346Ter)
|
rs2053680009
|
|
NM_001267550.2(TTN):c.55117C>T (p.Gln18373Ter)
|
rs2053658622
|
|
NM_001267550.2(TTN):c.55119del (p.Glu18374fs)
|
rs2154193527
|
|
NM_001267550.2(TTN):c.55120_55120+3del
|
|
|
NM_001267550.2(TTN):c.55121-1G>A
|
rs1576297857
|
|
NM_001267550.2(TTN):c.55129_55130insC (p.Glu18377fs)
|
rs2154193431
|
|
NM_001267550.2(TTN):c.55153C>T (p.Gln18385Ter)
|
rs1559696193
|
|
NM_001267550.2(TTN):c.55156_55165del (p.Asp18386fs)
|
rs1553674975
|
|
NM_001267550.2(TTN):c.55168del (p.Cys18390fs)
|
|
|
NM_001267550.2(TTN):c.55173dup (p.Ala18392fs)
|
rs2154193411
|
|
NM_001267550.2(TTN):c.55235G>A (p.Trp18412Ter)
|
rs2053599652
|
|
NM_001267550.2(TTN):c.55269+1del
|
rs2154193352
|
|
NM_001267550.2(TTN):c.55366_55372dup (p.Ser18458fs)
|
|
|
NM_001267550.2(TTN):c.55399C>T (p.Gln18467Ter)
|
rs2154193077
|
|
NM_001267550.2(TTN):c.55403dup (p.Thr18469fs)
|
|
|
NM_001267550.2(TTN):c.55425dup (p.Val18476fs)
|
|
|
NM_001267550.2(TTN):c.55432+1G>A
|
rs2053485503
|
|
NM_001267550.2(TTN):c.55432+1G>T
|
|
|
NM_001267550.2(TTN):c.55460_55461del (p.Lys18487fs)
|
rs1064796230
|
|
NM_001267550.2(TTN):c.55639C>T (p.Gln18547Ter)
|
rs2053403381
|
|
NM_001267550.2(TTN):c.55719del (p.Arg18574fs)
|
rs2154192801
|
|
NM_001267550.2(TTN):c.55728del (p.Ile18577fs)
|
|
|
NM_001267550.2(TTN):c.55734T>A (p.Tyr18578Ter)
|
rs2154192691
|
|
NM_001267550.2(TTN):c.55755dup (p.Leu18586fs)
|
rs2154192678
|
|
NM_001267550.2(TTN):c.55796C>A (p.Ser18599Ter)
|
rs2053315643
|
|
NM_001267550.2(TTN):c.55802_55803del (p.Lys18601fs)
|
|
|
NM_001267550.2(TTN):c.55808dup (p.Lys18604fs)
|
|
|
NM_001267550.2(TTN):c.55884_55887del (p.Glu18629fs)
|
rs2154192604
|
|
NM_001267550.2(TTN):c.55885G>T (p.Glu18629Ter)
|
|
|
NM_001267550.2(TTN):c.55927C>T (p.Gln18643Ter)
|
|
|
NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter)
|
rs764985774
|
|
NM_001267550.2(TTN):c.56050+1G>A
|
|
|
NM_001267550.2(TTN):c.56052C>A (p.Cys18684Ter)
|
|
|
NM_001267550.2(TTN):c.56089G>T (p.Glu18697Ter)
|
rs1391010387
|
|
NM_001267550.2(TTN):c.56122del (p.Ile18708fs)
|
rs2154191490
|
|
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter)
|
rs1477101279
|
|
NM_001267550.2(TTN):c.56200_56215dup (p.Asn18739delinsIleTer)
|
|
|
NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter)
|
rs1559669986
|
|
NM_001267550.2(TTN):c.56275_56276dup (p.Gly18760fs)
|
|
|
NM_001267550.2(TTN):c.56286dup (p.Thr18763fs)
|
rs2154191397
|
|
NM_001267550.2(TTN):c.56287_56288dup (p.Ile18764fs)
|
|
|
NM_001267550.2(TTN):c.56347+1G>A
|
rs1576251664
|
|
NM_001267550.2(TTN):c.56347+31_56395del
|
|
|
NM_001267550.2(TTN):c.56348-1G>A
|
rs2052685102
|
|
NM_001267550.2(TTN):c.56387_56388del (p.Ser18796fs)
|
|
|
NM_001267550.2(TTN):c.56401C>T (p.Gln18801Ter)
|
|
|
NM_001267550.2(TTN):c.56417G>A (p.Trp18806Ter)
|
rs2154191239
|
|
NM_001267550.2(TTN):c.56487del (p.Lys18830fs)
|
|
|
NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter)
|
rs1576247054
|
|
NM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs)
|
rs1294679653
|
|
NM_001267550.2(TTN):c.56584C>T (p.Gln18862Ter)
|
|
|
NM_001267550.2(TTN):c.56598del (p.Ile18867fs)
|
rs1553664644
|
|
NM_001267550.2(TTN):c.56645del (p.Phe18882fs)
|
rs2052619475
|
|
NM_001267550.2(TTN):c.56647+1G>A
|
rs397517624
|
|
NM_001267550.2(TTN):c.56715G>A (p.Trp18905Ter)
|
|
|
NM_001267550.2(TTN):c.56741del (p.Ser18914fs)
|
rs1553663867
|
|
NM_001267550.2(TTN):c.56759G>A (p.Trp18920Ter)
|
rs2154190939
|
|
NM_001267550.2(TTN):c.56783C>A (p.Ser18928Ter)
|
rs1576240126
|
|
NM_001267550.2(TTN):c.56790_56792dup (p.Trp18931Ter)
|
|
|
NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter)
|
rs1060500526
|
|
NM_001267550.2(TTN):c.56794A>T (p.Lys18932Ter)
|
rs2154190918
|
|
NM_001267550.2(TTN):c.56795del (p.Lys18932fs)
|
|
|
NM_001267550.2(TTN):c.56853del (p.Gly18952fs)
|
rs794729392
|
|
NM_001267550.2(TTN):c.56900_56901del (p.Asn18967fs)
|
|
|
NM_001267550.2(TTN):c.56933C>G (p.Ser18978Ter)
|
|
|
NM_001267550.2(TTN):c.56941_56957del (p.Ala18981fs)
|
rs2154190805
|
|
NM_001267550.2(TTN):c.56949del (p.Arg18984fs)
|
|
|
NM_001267550.2(TTN):c.56962+1G>A
|
|
|
NM_001267550.2(TTN):c.56999G>A (p.Trp19000Ter)
|
|
|
NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter)
|
rs878854318
|
|
NM_001267550.2(TTN):c.57030del (p.Pro19012fs)
|
rs2154190616
|
|
NM_001267550.2(TTN):c.57035dup (p.Leu19013fs)
|
rs1553662457
|
|
NM_001267550.2(TTN):c.57041_57044del (p.Lys19014fs)
|
|
|
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer)
|
rs1553662326
|
|
NM_001267550.2(TTN):c.57069C>G (p.Tyr19023Ter)
|
|
|
NM_001267550.2(TTN):c.57111_57111+9del
|
rs1553661994
|
|
NM_001267550.2(TTN):c.57112-1G>A
|
rs2154190178
|
|
NM_001267550.2(TTN):c.57112-1G>C
|
rs2154190178
|
|
NM_001267550.2(TTN):c.57115A>T (p.Lys19039Ter)
|
|
|
NM_001267550.2(TTN):c.57230_57231del (p.Val19077fs)
|
|
|
NM_001267550.2(TTN):c.57233_57234del (p.Thr19078fs)
|
|
|
NM_001267550.2(TTN):c.57250A>T (p.Lys19084Ter)
|
rs2052181050
|
|
NM_001267550.2(TTN):c.57277C>T (p.Gln19093Ter)
|
|
|
NM_001267550.2(TTN):c.57295_57296insC (p.Arg19099fs)
|
rs2154189974
|
|
NM_001267550.2(TTN):c.57345T>A (p.Tyr19115Ter)
|
|
|
NM_001267550.2(TTN):c.57354_57364del (p.Lys19119fs)
|
|
|
NM_001267550.2(TTN):c.57363del (p.Pro19122fs)
|
rs2154189911
|
|
NM_001267550.2(TTN):c.57388G>T (p.Glu19130Ter)
|
rs1553659628
|
|
NM_001267550.2(TTN):c.57494_57495insTC (p.Lys19166fs)
|
|
|
NM_001267550.2(TTN):c.57544+1G>A
|
rs2052045274
|
|
NM_001267550.2(TTN):c.57545-2A>G
|
|
|
NM_001267550.2(TTN):c.57558del (p.Val19187fs)
|
rs1576186406
|
|
NM_001267550.2(TTN):c.57692G>A (p.Trp19231Ter)
|
rs267599044
|
|
NM_001267550.2(TTN):c.57710_57711del (p.Thr19237fs)
|
|
|
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter)
|
rs2051361827
|
|
NM_001267550.2(TTN):c.57746_57749del (p.Ile19249fs)
|
|
|
NM_001267550.2(TTN):c.57748C>T (p.Gln19250Ter)
|
|
|
NM_001267550.2(TTN):c.57854del (p.Pro19285fs)
|
|
|
NM_001267550.2(TTN):c.57897del (p.Asn19299fs)
|
rs2051003587
|
|
NM_001267550.2(TTN):c.58033del (p.Thr19345fs)
|
rs2154187247
|
|
NM_001267550.2(TTN):c.58095dup (p.Gly19366fs)
|
|
|
NM_001267550.2(TTN):c.58117dup (p.Cys19373fs)
|
|
|
NM_001267550.2(TTN):c.58151-2A>G
|
rs2154187087
|
|
NM_001267550.2(TTN):c.58176del (p.Phe19392fs)
|
|
|
NM_001267550.2(TTN):c.58208del (p.Ala19403fs)
|
rs2154187038
|
|
NM_001267550.2(TTN):c.58228del (p.Tyr19410fs)
|
|
|
NM_001267550.2(TTN):c.58244del (p.Lys19415fs)
|
|
|
NM_001267550.2(TTN):c.58252del (p.Val19418fs)
|
|
|
NM_001267550.2(TTN):c.58258del (p.Trp19420fs)
|
rs2050888713
|
|
NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter)
|
rs869025544
|
|
NM_001267550.2(TTN):c.58260G>A (p.Trp19420Ter)
|
|
|
NM_001267550.2(TTN):c.58304_58317del (p.Ile19435fs)
|
rs2154186968
|
|
NM_001267550.2(TTN):c.58327del (p.Ala19443fs)
|
|
|
NM_001267550.2(TTN):c.58388del (p.Asn19463fs)
|
rs2050854171
|
|
NM_001267550.2(TTN):c.58390del (p.Ser19464fs)
|
rs2154186900
|
|
NM_001267550.2(TTN):c.58413_58414del (p.Phe19471fs)
|
rs2154186876
|
|
NM_001267550.2(TTN):c.58417C>T (p.Gln19473Ter)
|
|
|
NM_001267550.2(TTN):c.58432+2T>C
|
rs796197320
|
|
NM_001267550.2(TTN):c.58474_58480del (p.Val19492fs)
|
|
|
NM_001267550.2(TTN):c.58545T>A (p.Tyr19515Ter)
|
rs1195475569
|
|
NM_001267550.2(TTN):c.58568del (p.Gly19523fs)
|
rs1553650442
|
|
NM_001267550.2(TTN):c.58581G>A (p.Trp19527Ter)
|
rs2154186640
|
|
NM_001267550.2(TTN):c.58620del (p.Val19541fs)
|
rs1576147786
|
|
NM_001267550.2(TTN):c.58799G>A (p.Trp19600Ter)
|
|
|
NM_001267550.2(TTN):c.58850del (p.Lys19617fs)
|
rs2050657361
|
|
NM_001267550.2(TTN):c.58858_58859del (p.Thr19620fs)
|
rs2154186303
|
|
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)
|
rs1553649171
|
|
NM_001267550.2(TTN):c.58874G>A (p.Trp19625Ter)
|
rs1553649122
|
|
NM_001267550.2(TTN):c.59109_59112dup (p.Arg19705fs)
|
rs1553648246
|
|
NM_001267550.2(TTN):c.59127del (p.Ser19710fs)
|
rs2050559188
|
|
NM_001267550.2(TTN):c.59132del (p.Lys19711fs)
|
|
|
NM_001267550.2(TTN):c.59158C>T (p.Gln19720Ter)
|
|
|
NM_001267550.2(TTN):c.59174_59175del (p.Glu19725fs)
|
|
|
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs)
|
rs752948913
|
|
NM_001267550.2(TTN):c.59201dup (p.Pro19734_Glu19735insTer)
|
rs2154185983
|
|
NM_001267550.2(TTN):c.59205del (p.Glu19735fs)
|
rs397517643
|
|
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)
|
rs886039027
|
|
NM_001267550.2(TTN):c.59397dup (p.Val19800fs)
|
|
|
NM_001267550.2(TTN):c.59402del (p.Gly19801fs)
|
rs1064793367
|
|
NM_001267550.2(TTN):c.59411dup (p.Arg19805fs)
|
rs755261062
|
|
NM_001267550.2(TTN):c.59451dup (p.Val19818fs)
|
|
|
NM_001267550.2(TTN):c.59458del (p.Trp19820fs)
|
|
|
NM_001267550.2(TTN):c.59466dup (p.Glu19823fs)
|
rs2154185712
|
|
NM_001267550.2(TTN):c.59531_59570dup (p.Leu19857delinsPheSerTer)
|
rs1064792914
|
|
NM_001267550.2(TTN):c.59535del (p.Asn19846fs)
|
rs1559602980
|
|
NM_001267550.2(TTN):c.59570_59571insTTTTTTTTTTNNNNNNNNNNCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCCGGAATTTATTCTTT (p.Leu19857fs)
|
rs2154185645
|
|
NM_001267550.2(TTN):c.59583_59599dup (p.Thr19867fs)
|
rs2154185625
|
|
NM_001267550.2(TTN):c.59598_59599dup (p.Thr19867fs)
|
rs2154185622
|
|
NM_001267550.2(TTN):c.59647_59648del (p.Asp19883fs)
|
rs878854322
|
|
NM_001267550.2(TTN):c.59730del (p.Asn19911fs)
|
|
|
NM_001267550.2(TTN):c.59763del (p.Ser19921fs)
|
rs1559599859
|
|
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)
|
|
|
NM_001267550.2(TTN):c.59802del (p.Ser19935fs)
|
|
|
NM_001267550.2(TTN):c.59841C>A (p.Tyr19947Ter)
|
rs1413760246
|
|
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)
|
rs1559598775
|
|
NM_001267550.2(TTN):c.59903del (p.Pro19968fs)
|
rs2154185335
|
|
NM_001267550.2(TTN):c.59906_59924delinsAA (p.Ile19969fs)
|
rs2050313754
|
|
NM_001267550.2(TTN):c.59917del (p.Asp19973fs)
|
rs2050315855
|
|
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter)
|
rs1085307825
|
|
NM_001267550.2(TTN):c.59994G>A (p.Trp19998Ter)
|
rs2154185221
|
|
NM_001267550.2(TTN):c.59997del (p.Asn19999fs)
|
rs2154185219
|
|
NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter)
|
|
|
NM_001267550.2(TTN):c.60121C>T (p.Gln20041Ter)
|
rs794729277
|
|
NM_001267550.2(TTN):c.60258del (p.Gly20087fs)
|
rs2154184977
|
|
NM_001267550.2(TTN):c.60263_60264del (p.Leu20088fs)
|
rs1559592415
|
|
NM_001267550.2(TTN):c.60284_60285del (p.Thr20095fs)
|
rs1553644362
|
|
NM_001267550.2(TTN):c.60348del (p.Ser20117fs)
|
|
|
NM_001267550.2(TTN):c.60433_60434dup (p.Asp20145fs)
|
|
|
NM_001267550.2(TTN):c.60447T>G (p.Tyr20149Ter)
|
rs1553644047
|
|
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs)
|
rs2154184873
|
|
NM_001267550.2(TTN):c.60493dup (p.His20165fs)
|
|
|
NM_001267550.2(TTN):c.60565_60566del (p.Met20189fs)
|
|
|
NM_001267550.2(TTN):c.60581del (p.Gln20194fs)
|
rs1559589139
|
|
NM_001267550.2(TTN):c.60621del (p.Asn20206_Tyr20207insTer)
|
rs1060500442
|
|
NM_001267550.2(TTN):c.60760del (p.Val20254fs)
|
rs2050086519
|
|
NM_001267550.2(TTN):c.60801_60802insTAAA (p.Lys20268Ter)
|
|
|
NM_001267550.2(TTN):c.60831del (p.Lys20277fs)
|
rs2050068938
|
|
NM_001267550.2(TTN):c.60853dup (p.Glu20285fs)
|
rs2154184643
|
|
NM_001267550.2(TTN):c.60865dup (p.Thr20289fs)
|
rs1553643260
|
|
NM_001267550.2(TTN):c.60918C>G (p.Tyr20306Ter)
|
|
|
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)
|
rs869312055
|
|
NM_001267550.2(TTN):c.60961_60962dup (p.Asn20321fs)
|
|
|
NM_001267550.2(TTN):c.60993_60994del (p.Arg20331fs)
|
rs2154184570
|
|
NM_001267550.2(TTN):c.61012G>T (p.Gly20338Ter)
|
|
|
NM_001267550.2(TTN):c.61024_61028del (p.Tyr20341_Glu20342insTer)
|
|
|
NM_001267550.2(TTN):c.61079del (p.Ser20360fs)
|
|
|
NM_001267550.2(TTN):c.61269del (p.Asp20424fs)
|
rs1060500420
|
|
NM_001267550.2(TTN):c.61290T>A (p.Cys20430Ter)
|
|
|
NM_001267550.2(TTN):c.61297del (p.Arg20433fs)
|
rs2154184377
|
|
NM_001267550.2(TTN):c.61323dup (p.Glu20442Ter)
|
|
|
NM_001267550.2(TTN):c.61324G>T (p.Glu20442Ter)
|
rs751412533
|
|
NM_001267550.2(TTN):c.61367del (p.Gly20456fs)
|
rs2154184341
|
|
NM_001267550.2(TTN):c.61369G>T (p.Glu20457Ter)
|
rs2049944547
|
|
NM_001267550.2(TTN):c.61394_61395del (p.Val20465fs)
|
rs2154184320
|
|
NM_001267550.2(TTN):c.61515del (p.Glu20505fs)
|
rs2154184240
|
|
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)
|
rs794729278
|
|
NM_001267550.2(TTN):c.61614del (p.Ala20539fs)
|
|
|
NM_001267550.2(TTN):c.61655del (p.Lys20552fs)
|
|
|
NM_001267550.2(TTN):c.61675C>T (p.Gln20559Ter)
|
|
|
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter)
|
rs1114167324
|
|
NM_001267550.2(TTN):c.61757_61758del (p.Cys20586fs)
|
rs1264036094
|
|
NM_001267550.2(TTN):c.61765dup (p.Ser20589fs)
|
|
|
NM_001267550.2(TTN):c.61830dup (p.Pro20611fs)
|
rs2154184083
|
|
NM_001267550.2(TTN):c.61847G>A (p.Trp20616Ter)
|
rs1576077909
|
|
NM_001267550.2(TTN):c.61850C>G (p.Ser20617Ter)
|
rs2154184066
|
|
NM_001267550.2(TTN):c.61977del (p.Ile20660fs)
|
rs2154183984
|
|
NM_001267550.2(TTN):c.62075del (p.Pro20692fs)
|
rs2154183927
|
|
NM_001267550.2(TTN):c.62109T>A (p.Tyr20703Ter)
|
rs2154183898
|
|
NM_001267550.2(TTN):c.62128_63102delinsGA (p.Lys20710fs)
|
rs2049572412
|
|
NM_001267550.2(TTN):c.62129dup (p.Ser20712fs)
|
rs886039913
|
|
NM_001267550.2(TTN):c.62131_62135dup (p.Asp20713fs)
|
|
|
NM_001267550.2(TTN):c.62184C>A (p.Tyr20728Ter)
|
|
|
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter)
|
rs727503586
|
|
NM_001267550.2(TTN):c.62251dup (p.Glu20751fs)
|
|
|
NM_001267550.2(TTN):c.62302A>T (p.Lys20768Ter)
|
|
|
NM_001267550.2(TTN):c.62337_62340del (p.Thr20780fs)
|
rs2154183737
|
|
NM_001267550.2(TTN):c.62374_62378del (p.Ala20791_Gly20792insTer)
|
|
|
NM_001267550.2(TTN):c.62408G>A (p.Trp20803Ter)
|
|
|
NM_001267550.2(TTN):c.62409G>A (p.Trp20803Ter)
|
|
|
NM_001267550.2(TTN):c.62477C>G (p.Ser20826Ter)
|
|
|
NM_001267550.2(TTN):c.62493dup (p.Thr20832fs)
|
|
|
NM_001267550.2(TTN):c.62519dup (p.Gly20840_Lys20841insTer)
|
|
|
NM_001267550.2(TTN):c.62525_62526del (p.Tyr20842fs)
|
|
|
NM_001267550.2(TTN):c.62526T>G (p.Tyr20842Ter)
|
rs2049710031
|
|
NM_001267550.2(TTN):c.62530_62531del (p.Val20844fs)
|
|
|
NM_001267550.2(TTN):c.62533_62534insGTTGGAAGTTA (p.Thr20845fs)
|
|
|
NM_001267550.2(TTN):c.62597del (p.Gly20866fs)
|
rs1576066084
|
|
NM_001267550.2(TTN):c.62642_62648del (p.Cys20881fs)
|
|
|
NM_001267550.2(TTN):c.62655G>A (p.Trp20885Ter)
|
rs2049677875
|
|
NM_001267550.2(TTN):c.62708_62709insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAA (p.Lys20903_Cys20904insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)
|
rs543860009
|
|
NM_001267550.2(TTN):c.62742T>G (p.Tyr20914Ter)
|
|
|
NM_001267550.2(TTN):c.62854del (p.Ser20952fs)
|
rs2154183406
|
|
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)
|
rs876657666
|
|
NM_001267550.2(TTN):c.62911G>T (p.Glu20971Ter)
|
|
|
NM_001267550.2(TTN):c.62922del (p.Lys20974_Val20975insTer)
|
rs2154183349
|
|
NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter)
|
rs1306891128
|
|
NM_001267550.2(TTN):c.62966del (p.Tyr20989fs)
|
|
|
NM_001267550.2(TTN):c.62978dup (p.Ser20994fs)
|
rs2154183322
|
|
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter)
|
rs368452607
|
|
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs)
|
rs1559561666
|
|
NM_001267550.2(TTN):c.63081dup (p.Leu21028fs)
|
|
|
NM_001267550.2(TTN):c.63094del (p.His21032fs)
|
|
|
NM_001267550.2(TTN):c.63096del (p.His21032fs)
|
|
|
NM_001267550.2(TTN):c.63234del (p.Lys21078fs)
|
|
|
NM_001267550.2(TTN):c.63255G>A (p.Trp21085Ter)
|
rs1553638539
|
|
NM_001267550.2(TTN):c.63270T>G (p.Tyr21090Ter)
|
rs878991431
|
|
NM_001267550.2(TTN):c.63303_63304delinsTT (p.Glu21102Ter)
|
|
|
NM_001267550.2(TTN):c.63367dup (p.Ala21123fs)
|
rs2154182688
|
|
NM_001267550.2(TTN):c.63413_63420dup (p.Tyr21141fs)
|
|
|
NM_001267550.2(TTN):c.63422_63423dup (p.Glu21142fs)
|
|
|
NM_001267550.2(TTN):c.63504del (p.Ile21168_Leu21169insTer)
|
rs2154182600
|
|
NM_001267550.2(TTN):c.63526_63527del (p.Leu21176fs)
|
rs2154182483
|
|
NM_001267550.2(TTN):c.63546dup (p.Leu21183fs)
|
|
|
NM_001267550.2(TTN):c.63577dup (p.Arg21193fs)
|
rs2154182439
|
|
NM_001267550.2(TTN):c.63578del (p.Arg21193fs)
|
rs2154182432
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter)
|
rs794729279
|
|
NM_001267550.2(TTN):c.63675del (p.Asp21226fs)
|
rs2154182357
|
|
NM_001267550.2(TTN):c.63722delinsAA (p.Ser21241Ter)
|
rs2049307995
|
|
NM_001267550.2(TTN):c.63747del (p.Asn21250fs)
|
|
|
NM_001267550.2(TTN):c.63754del (p.Ala21252fs)
|
rs2154182312
|
|
NM_001267550.2(TTN):c.63793+1G>A
|
rs2154182296
|
|
NM_001267550.2(TTN):c.63794-1G>A
|
rs2049262622
|
|
NM_001267550.2(TTN):c.63845C>G (p.Ser21282Ter)
|
|
|
NM_001267550.2(TTN):c.63851_63864del (p.His21284fs)
|
|
|
NM_001267550.2(TTN):c.63879del (p.Asp21293fs)
|
rs2154182119
|
|
NM_001267550.2(TTN):c.63982del (p.Thr21328fs)
|
|
|
NM_001267550.2(TTN):c.64033G>T (p.Glu21345Ter)
|
|
|
NM_001267550.2(TTN):c.64082C>A (p.Ser21361Ter)
|
|
|
NM_001267550.2(TTN):c.64093+1G>A
|
|
|
NM_001267550.2(TTN):c.64094-1G>C
|
rs2154181635
|
|
NM_001267550.2(TTN):c.64094-2A>G
|
rs876657667
|
|
NM_001267550.2(TTN):c.64216A>T (p.Arg21406Ter)
|
rs2049052530
|
|
NM_001267550.2(TTN):c.64222G>T (p.Glu21408Ter)
|
rs1576015923
|
|
NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter)
|
|
|
NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter)
|
rs794729329
|
|
NM_001267550.2(TTN):c.64287del (p.Gly21430fs)
|
rs2049038862
|
|
NM_001267550.2(TTN):c.64297del (p.Glu21433fs)
|
rs1576014780
|
|
NM_001267550.2(TTN):c.64314del (p.Lys21438fs)
|
rs2154181503
|
|
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter)
|
rs1576014673
|
|
NM_001267550.2(TTN):c.64352T>A (p.Leu21451Ter)
|
rs777425925
|
|
NM_001267550.2(TTN):c.64396+2T>C
|
rs2154181458
|
|
NM_001267550.2(TTN):c.64423C>T (p.Gln21475Ter)
|
|
|
NM_001267550.2(TTN):c.64427_64428dup (p.Thr21477Ter)
|
rs1559536156
|
|
NM_001267550.2(TTN):c.64443dup (p.Lys21482fs)
|
|
|
NM_001267550.2(TTN):c.64506dup (p.Gly21503fs)
|
|
|
NM_001267550.2(TTN):c.64516G>T (p.Glu21506Ter)
|
|
|
NM_001267550.2(TTN):c.64518del (p.Val21507fs)
|
rs2154180376
|
|
NM_001267550.2(TTN):c.64577dup (p.Asp21528fs)
|
rs2048654277
|
|
NM_001267550.2(TTN):c.64583_64592dup (p.Arg21531_Lys21532insCysAspTer)
|
rs2154180338
|
|
NM_001267550.2(TTN):c.64594_64601del (p.Lys21532fs)
|
|
|
NM_001267550.2(TTN):c.64655_64659dup (p.Val21554fs)
|
|
|
NM_001267550.2(TTN):c.64672+1G>A
|
rs2048635392
|
|
NM_001267550.2(TTN):c.64672+2T>A
|
|
|
NM_001267550.2(TTN):c.64672+2T>C
|
rs2154180290
|
|
NM_001267550.2(TTN):c.64672+2dup
|
|
|
NM_001267550.2(TTN):c.64673-1G>A
|
rs2154180190
|
|
NM_001267550.2(TTN):c.64673-2A>G
|
rs2154180194
|
|
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs)
|
rs794729330
|
|
NM_001267550.2(TTN):c.64688_64689insA (p.Gln21564fs)
|
rs2154180169
|
|
NM_001267550.2(TTN):c.64688del (p.Pro21563fs)
|
rs774395395
|
|
NM_001267550.2(TTN):c.64688dup (p.Gln21564fs)
|
rs774395395
|
|
NM_001267550.2(TTN):c.64708del (p.Ser21570fs)
|
rs2048590205
|
|
NM_001267550.2(TTN):c.64742G>A (p.Trp21581Ter)
|
rs1057523344
|
|
NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)
|
|
|
NM_001267550.2(TTN):c.64843dup (p.Thr21615fs)
|
rs2048567077
|
|
NM_001267550.2(TTN):c.64890C>A (p.Tyr21630Ter)
|
|
|
NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter)
|
rs1432889079
|
|
NM_001267550.2(TTN):c.64973-1G>C
|
rs2154179915
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
NM_001267550.2(TTN):c.65087_65100del (p.Ile21696fs)
|
|
|
NM_001267550.2(TTN):c.6514C>T (p.Gln2172Ter)
|
|
|
NM_001267550.2(TTN):c.65212_65213del (p.Asn21738fs)
|
|
|
NM_001267550.2(TTN):c.65437C>T (p.Gln21813Ter)
|
rs1575960580
|
|
NM_001267550.2(TTN):c.65505del (p.Ile21835fs)
|
rs1559521007
|
|
NM_001267550.2(TTN):c.65531del (p.Pro21844fs)
|
rs794729331
|
|
NM_001267550.2(TTN):c.65573dup (p.Asn21858fs)
|
|
|
NM_001267550.2(TTN):c.65575+1del
|
rs2154179114
|
|
NM_001267550.2(TTN):c.65595del (p.Ser21866fs)
|
|
|
NM_001267550.2(TTN):c.65657_65658del (p.Thr21886fs)
|
rs2048154655
|
|
NM_001267550.2(TTN):c.65661_65677del (p.Phe21888fs)
|
rs2048149402
|
|
NM_001267550.2(TTN):c.65755_65756del (p.Cys21919fs)
|
rs1553629143
|
|
NM_001267550.2(TTN):c.65758_65759del (p.Thr21920fs)
|
rs1553629105
|
|
NM_001267550.2(TTN):c.65792C>G (p.Ser21931Ter)
|
|
|
NM_001267550.2(TTN):c.65863+2T>A
|
|
|
NM_001267550.2(TTN):c.66008G>A (p.Trp22003Ter)
|
rs1229556495
|
|
NM_001267550.2(TTN):c.66039del (p.Ser22014fs)
|
rs1553628052
|
|
NM_001267550.2(TTN):c.66059_66060insAT (p.Ile22021fs)
|
rs2047981524
|
|
NM_001267550.2(TTN):c.66062_66063del (p.Ile22021fs)
|
|
|
NM_001267550.2(TTN):c.66079C>T (p.Gln22027Ter)
|
rs2047976018
|
|
NM_001267550.2(TTN):c.66160+1G>T
|
rs2047961752
|
|
NM_001267550.2(TTN):c.66161-1G>C
|
rs1553627403
|
|
NM_001267550.2(TTN):c.66239_66242dup (p.Asp22082fs)
|
rs2047913995
|
|
NM_001267550.2(TTN):c.66254C>A (p.Ser22085Ter)
|
|
|
NM_001267550.2(TTN):c.66306G>A (p.Trp22102Ter)
|
|
|
NM_001267550.2(TTN):c.66319del (p.Arg22107fs)
|
rs2047900528
|
|
NM_001267550.2(TTN):c.66361C>T (p.Gln22121Ter)
|
|
|
NM_001267550.2(TTN):c.66378dup (p.Glu22127Ter)
|
|
|
NM_001267550.2(TTN):c.66460C>T (p.Gln22154Ter)
|
|
|
NM_001267550.2(TTN):c.66464-2A>G
|
rs1575921187
|
|
NM_001267550.2(TTN):c.66492del (p.Val22165fs)
|
|
|
NM_001267550.2(TTN):c.66524dup (p.Ser22176fs)
|
|
|
NM_001267550.2(TTN):c.66576dup (p.Val22193fs)
|
rs2154177519
|
|
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter)
|
rs397517664
|
|
NM_001267550.2(TTN):c.66628C>T (p.Gln22210Ter)
|
rs757047748
|
|
NM_001267550.2(TTN):c.66637C>T (p.Gln22213Ter)
|
|
|
NM_001267550.2(TTN):c.66682dup (p.Tyr22228fs)
|
rs2154177424
|
|
NM_001267550.2(TTN):c.66710del (p.Lys22237fs)
|
rs1060500479
|
|
NM_001267550.2(TTN):c.66770-2A>C
|
rs1553624468
|
|
NM_001267550.2(TTN):c.66776del (p.Pro22259fs)
|
|
|
NM_001267550.2(TTN):c.66793dup (p.Ala22265fs)
|
rs2047469522
|
|
NM_001267550.2(TTN):c.66800T>A (p.Leu22267Ter)
|
|
|
NM_001267550.2(TTN):c.66816_66817del (p.Leu22273fs)
|
rs2154176484
|
|
NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter)
|
|
|
NM_001267550.2(TTN):c.66858dup (p.Gly22287fs)
|
|
|
NM_001267550.2(TTN):c.66885G>A (p.Trp22295Ter)
|
|
|
NM_001267550.2(TTN):c.66910_66911del (p.Asp22304fs)
|
|
|
NM_001267550.2(TTN):c.66931_66932del (p.Lys22311fs)
|
rs2154176398
|
|
NM_001267550.2(TTN):c.66937del (p.Thr22313fs)
|
|
|
NM_001267550.2(TTN):c.66941_66944dup (p.Phe22315fs)
|
rs2047435382
|
|
NM_001267550.2(TTN):c.66968del (p.Asn22323fs)
|
rs2154176360
|
|
NM_001267550.2(TTN):c.66981T>G (p.Tyr22327Ter)
|
rs2047426908
|
|
NM_001267550.2(TTN):c.66985dup (p.Ala22329fs)
|
|
|
NM_001267550.2(TTN):c.67057+1G>A
|
|
|
NM_001267550.2(TTN):c.67058-1G>A
|
|
|
NM_001267550.2(TTN):c.67070_67071insTGTGACTGTATCCAGATAC (p.Pro22358fs)
|
rs2047381754
|
|
NM_001267550.2(TTN):c.67070del (p.Pro22357fs)
|
|
|
NM_001267550.2(TTN):c.67081dup (p.Val22361fs)
|
rs2047380262
|
|
NM_001267550.2(TTN):c.67109_67110del (p.Ser22370fs)
|
|
|
NM_001267550.2(TTN):c.67115_67116del (p.Tyr22372fs)
|
rs2154176111
|
|
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs)
|
rs1476017129
|
|
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter)
|
rs2154176072
|
|
NM_001267550.2(TTN):c.67191del (p.Arg22398fs)
|
|
|
NM_001267550.2(TTN):c.67266dup (p.Ser22423fs)
|
rs2154175989
|
|
NM_001267550.2(TTN):c.67279del (p.Arg22427fs)
|
rs2154175979
|
|
NM_001267550.2(TTN):c.67297G>T (p.Glu22433Ter)
|
|
|
NM_001267550.2(TTN):c.67397C>A (p.Ser22466Ter)
|
rs2047280731
|
|
NM_001267550.2(TTN):c.67421del (p.Lys22474fs)
|
rs794729332
|
|
NM_001267550.2(TTN):c.67446del (p.Ile22483fs)
|
rs2154175760
|
|
NM_001267550.2(TTN):c.67490G>A (p.Trp22497Ter)
|
|
|
NM_001267550.2(TTN):c.67555del (p.Tyr22519fs)
|
rs2154175699
|
|
NM_001267550.2(TTN):c.67556_67559dup (p.Phe22521fs)
|
rs2154175692
|
|
NM_001267550.2(TTN):c.67576G>T (p.Glu22526Ter)
|
rs2047236705
|
|
NM_001267550.2(TTN):c.67590_67591insCTCCATGGGCTCTTCTCTTGCTTTGAAAACTCCCCCTTTTCCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTACCCCTCCCCCTCCCCCTCTCCCTCTNNNNNNNNNNAAAAACAAAAAAAAAAAAAAGAATGAAAATGGA (p.Glu22531fs)
|
rs2154175675
|
|
NM_001267550.2(TTN):c.67655T>G (p.Leu22552Ter)
|
|
|
NM_001267550.2(TTN):c.67705_67706insLINE1
|
|
|
NM_001267550.2(TTN):c.67750del (p.Trp22584fs)
|
|
|
NM_001267550.2(TTN):c.67762del (p.Glu22588fs)
|
rs2154175340
|
|
NM_001267550.2(TTN):c.67794del (p.Ser22598fs)
|
|
|
NM_001267550.2(TTN):c.67833C>G (p.Tyr22611Ter)
|
|
|
NM_001267550.2(TTN):c.67840C>T (p.Gln22614Ter)
|
rs2154175288
|
|
NM_001267550.2(TTN):c.67897G>T (p.Glu22633Ter)
|
rs1553621179
|
|
NM_001267550.2(TTN):c.67900_67901del (p.Gly22634fs)
|
|
|
NM_001267550.2(TTN):c.67901_67904dup (p.Ile22636fs)
|
|
|
NM_001267550.2(TTN):c.67906_67909dup (p.Ser22637fs)
|
|
|
NM_001267550.2(TTN):c.67994G>A (p.Trp22665Ter)
|
|
|
NM_001267550.2(TTN):c.68022dup (p.Glu22675Ter)
|
|
|
NM_001267550.2(TTN):c.68108_68109del (p.Thr22702_Phe22703insTer)
|
rs2154175051
|
|
NM_001267550.2(TTN):c.68197G>T (p.Glu22733Ter)
|
|
|
NM_001267550.2(TTN):c.68224+1G>A
|
rs754250350
|
|
NM_001267550.2(TTN):c.68225-1G>A
|
|
|
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs)
|
rs1085307600
|
|
NM_001267550.2(TTN):c.68262_68266del (p.Asp22754fs)
|
|
|
NM_001267550.2(TTN):c.68269del (p.His22757fs)
|
rs2154174822
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
NM_001267550.2(TTN):c.68325dup (p.Thr22776fs)
|
rs1575853060
|
|
NM_001267550.2(TTN):c.68336_68340dup (p.Glu22781fs)
|
|
|
NM_001267550.2(TTN):c.68349_68356del (p.Glu22784fs)
|
rs2154174313
|
|
NM_001267550.2(TTN):c.68410_68411insTCGGTTA (p.Lys22804delinsIleGlyTer)
|
rs2154174273
|
|
NM_001267550.2(TTN):c.68427del (p.Glu22810fs)
|
|
|
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter)
|
rs200797552
|
|
NM_001267550.2(TTN):c.6846T>A (p.Tyr2282Ter)
|
|
|
NM_001267550.2(TTN):c.68508dup (p.Val22837fs)
|
rs1064793845
|
|
NM_001267550.2(TTN):c.68575_68576dup (p.Ile22861fs)
|
|
|
NM_001267550.2(TTN):c.68606del (p.Gly22869fs)
|
|
|
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter)
|
rs1213930919
|
|
NM_001267550.2(TTN):c.68654dup (p.Lys22886fs)
|
rs2154174012
|
|
NM_001267550.2(TTN):c.68663G>A (p.Trp22888Ter)
|
rs2154174003
|
|
NM_001267550.2(TTN):c.68664G>A (p.Trp22888Ter)
|
rs2046761831
|
|
NM_001267550.2(TTN):c.68759del (p.Asn22920fs)
|
|
|
NM_001267550.2(TTN):c.68768del (p.Gly22923fs)
|
|
|
NM_001267550.2(TTN):c.68800del (p.Thr22934fs)
|
|
|
NM_001267550.2(TTN):c.68807_68810dup (p.Lys22938fs)
|
rs2046739414
|
|
NM_001267550.2(TTN):c.68824+1del
|
|
|
NM_001267550.2(TTN):c.68854del (p.Thr22951_Ile22952insTer)
|
|
|
NM_001267550.2(TTN):c.68859_68862dup (p.Gly22955fs)
|
rs2154173774
|
|
NM_001267550.2(TTN):c.68875A>T (p.Lys22959Ter)
|
rs2154173767
|
|
NM_001267550.2(TTN):c.68876_68883del (p.Lys22959fs)
|
rs1575832346
|
|
NM_001267550.2(TTN):c.68934dup (p.Ser22979fs)
|
|
|
NM_001267550.2(TTN):c.68936C>A (p.Ser22979Ter)
|
rs2154173745
|
|
NM_001267550.2(TTN):c.68941del (p.Trp22981fs)
|
rs1575831755
|
|
NM_001267550.2(TTN):c.68943G>A (p.Trp22981Ter)
|
rs1553617378
|
|
NM_001267550.2(TTN):c.68992del (p.Ser22998fs)
|
|
|
NM_001267550.2(TTN):c.68995del (p.Thr22999fs)
|
rs1064796389
|
|
NM_001267550.2(TTN):c.69104dup (p.Thr23036fs)
|
rs1559469421
|
|
NM_001267550.2(TTN):c.69105_69108dup (p.Val23037fs)
|
|
|
NM_001267550.2(TTN):c.69131del (p.Pro23044fs)
|
rs2154173603
|
|
NM_001267550.2(TTN):c.69186_69187del (p.Pro23063fs)
|
|
|
NM_001267550.2(TTN):c.69214del (p.Ile23072fs)
|
|
|
NM_001267550.2(TTN):c.69234_69238del (p.Lys23079fs)
|
rs2046600751
|
|
NM_001267550.2(TTN):c.69241_69242del (p.Glu23081fs)
|
rs1575826940
|
|
NM_001267550.2(TTN):c.69250C>T (p.Arg23084Ter)
|
rs794729281
|
|
NM_001267550.2(TTN):c.69256_69257dup (p.Leu23086fs)
|
rs1553616622
|
|
NM_001267550.2(TTN):c.69257del (p.Leu23086fs)
|
|
|
NM_001267550.2(TTN):c.69325G>T (p.Glu23109Ter)
|
|
|
NM_001267550.2(TTN):c.69340del (p.Val23114fs)
|
rs2046581341
|
|
NM_001267550.2(TTN):c.69379C>T (p.Gln23127Ter)
|
|
|
NM_001267550.2(TTN):c.69387del (p.Glu23129fs)
|
rs2154173437
|
|
NM_001267550.2(TTN):c.69412+1G>A
|
rs869312074
|
|
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs)
|
rs1247353236
|
|
NM_001267550.2(TTN):c.69422_69426delinsAAAAGGACCC (p.Gly23141fs)
|
rs2046539116
|
|
NM_001267550.2(TTN):c.69479G>A (p.Trp23160Ter)
|
rs2154173285
|
|
NM_001267550.2(TTN):c.69491_69492del (p.Val23164fs)
|
rs869312113
|
|
NM_001267550.2(TTN):c.69497dup (p.Asp23166fs)
|
|
|
NM_001267550.2(TTN):c.69513del (p.Thr23172fs)
|
|
|
NM_001267550.2(TTN):c.69521_69525dup (p.Val23176fs)
|
rs2154173232
|
|
NM_001267550.2(TTN):c.69558G>A (p.Trp23186Ter)
|
rs1575821175
|
|
NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs)
|
rs2046499843
|
|
NM_001267550.2(TTN):c.69584_69585insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACACCAGTTTC (p.Ser23195_Asp23196insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_001267550.2(TTN):c.69613C>T (p.Gln23205Ter)
|
|
|
NM_001267550.2(TTN):c.69613_69616dup (p.Glu23206fs)
|
rs2154173163
|
|
NM_001267550.2(TTN):c.69759del (p.Lys23254fs)
|
|
|
NM_001267550.2(TTN):c.69811G>T (p.Glu23271Ter)
|
rs1213132001
|
|
NM_001267550.2(TTN):c.69860G>A (p.Trp23287Ter)
|
rs869067204
|
|
NM_001267550.2(TTN):c.69861G>A (p.Trp23287Ter)
|
|
|
NM_001267550.2(TTN):c.69866_69869dup (p.Asp23290fs)
|
rs2154172862
|
|
NM_001267550.2(TTN):c.69871del (p.Thr23291fs)
|
|
|
NM_001267550.2(TTN):c.6989_6998del (p.Lys2330fs)
|
|
|
NM_001267550.2(TTN):c.69923_69926dup (p.Lys23309delinsAsnTer)
|
rs2154172827
|
|
NM_001267550.2(TTN):c.69937_69938insGAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Asn23313delinsArgLysIleGlnAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_001267550.2(TTN):c.69937_69938insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAAATACA (p.Tyr23312_Asn23313insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluLysTyr)
|
|
|
NM_001267550.2(TTN):c.69968del (p.Gly23323fs)
|
|
|
NM_001267550.2(TTN):c.69972del (p.Glu23326fs)
|
|
|
NM_001267550.2(TTN):c.69999del (p.Glu23334fs)
|
|
|
NM_001267550.2(TTN):c.70025del (p.Pro23342fs)
|
|
|
NM_001267550.2(TTN):c.70032dup (p.Glu23345Ter)
|
|
|
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)
|
rs1060500575
|
|
NM_001267550.2(TTN):c.70115del (p.Pro23372fs)
|
|
|
NM_001267550.2(TTN):c.70133G>A (p.Trp23378Ter)
|
|
|
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs)
|
rs1553614347
|
|
NM_001267550.2(TTN):c.70215dup (p.Asn23406Ter)
|
rs1553614378
|
|
NM_001267550.2(TTN):c.70222del (p.Tyr23408fs)
|
rs2154172616
|
|
NM_001267550.2(TTN):c.70224T>A (p.Tyr23408Ter)
|
rs908321623
|
|
NM_001267550.2(TTN):c.70270A>T (p.Lys23424Ter)
|
|
|
NM_001267550.2(TTN):c.70346del (p.Lys23449fs)
|
rs2154172536
|
|
NM_001267550.2(TTN):c.70379_70382dup (p.Gly23463fs)
|
rs2154172514
|
|
NM_001267550.2(TTN):c.70388del (p.Gly23463fs)
|
rs2154172507
|
|
NM_001267550.2(TTN):c.70401_70402dup (p.Thr23468fs)
|
|
|
NM_001267550.2(TTN):c.70437del (p.Lys23480fs)
|
rs2154172462
|
|
NM_001267550.2(TTN):c.70467C>A (p.Cys23489Ter)
|
rs2154172442
|
|
NM_001267550.2(TTN):c.70482_70483del (p.Tyr23494_Lys23495delinsTer)
|
|
|
NM_001267550.2(TTN):c.70491del (p.Gly23498fs)
|
rs2154172422
|
|
NM_001267550.2(TTN):c.70501G>T (p.Glu23501Ter)
|
rs1709809170
|
|
NM_001267550.2(TTN):c.70524_70525del (p.Arg23508fs)
|
|
|
NM_001267550.2(TTN):c.7057+2T>C
|
rs2154345049
|
|
NM_001267550.2(TTN):c.70571_70572dup (p.Glu23525fs)
|
rs1709775754
|
|
NM_001267550.2(TTN):c.70629_70632dup (p.Thr23545fs)
|
rs2154172318
|
|
NM_001267550.2(TTN):c.70701T>A (p.Tyr23567Ter)
|
|
|
NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter)
|
rs1559449398
|
|
NM_001267550.2(TTN):c.70745dup (p.Thr23583fs)
|
rs1559448864
|
|
NM_001267550.2(TTN):c.70785_70788dup (p.Glu23597delinsAsnTer)
|
rs2154172210
|
|
NM_001267550.2(TTN):c.70814_70815insTT (p.Val23605_Met23606insTer)
|
rs1709673176
|
|
NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter)
|
rs1575799625
|
|
NM_001267550.2(TTN):c.70897dup (p.Leu23633fs)
|
rs1709631095
|
|
NM_001267550.2(TTN):c.70917T>A (p.Tyr23639Ter)
|
|
|
NM_001267550.2(TTN):c.70918C>T (p.Gln23640Ter)
|
|
|
NM_001267550.2(TTN):c.70920_70923dup (p.Leu23642fs)
|
|
|
NM_001267550.2(TTN):c.70922_70923delinsG (p.Lys23641fs)
|
rs1709617800
|
|
NM_001267550.2(TTN):c.70936A>T (p.Lys23646Ter)
|
rs2154172066
|
|
NM_001267550.2(TTN):c.70957del (p.Val23653fs)
|
rs2154172050
|
|
NM_001267550.2(TTN):c.71002A>T (p.Lys23668Ter)
|
rs1553612321
|
|
NM_001267550.2(TTN):c.71024_71027del (p.Lys23675fs)
|
rs1709577304
|
|
NM_001267550.2(TTN):c.71035_71038del (p.Arg23679fs)
|
rs1575797171
|
|
NM_001267550.2(TTN):c.71045_71046del (p.Asn23681_Phe23682insTer)
|
rs2154171990
|
|
NM_001267550.2(TTN):c.71126_71127delinsA (p.Arg23709fs)
|
rs1709548356
|
|
NM_001267550.2(TTN):c.71146_71156del (p.Gly23716fs)
|
rs2154171911
|
|
NM_001267550.2(TTN):c.71201_71204del (p.Ile23734fs)
|
rs2154171881
|
|
NM_001267550.2(TTN):c.71237del (p.Phe23746fs)
|
|
|
NM_001267550.2(TTN):c.71242del (p.Trp23748fs)
|
rs1060500514
|
|
NM_001267550.2(TTN):c.71244G>A (p.Trp23748Ter)
|
|
|
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter)
|
rs727503567
|
|
NM_001267550.2(TTN):c.71351_71352insGGTA (p.Thr23785fs)
|
rs2154171770
|
|
NM_001267550.2(TTN):c.71356dup (p.Tyr23786fs)
|
rs2154171765
|
|
NM_001267550.2(TTN):c.71365dup (p.Thr23789fs)
|
|
|
NM_001267550.2(TTN):c.71378_71385del (p.Thr23793fs)
|
rs1709461632
|
|
NM_001267550.2(TTN):c.71407del (p.Ala23803fs)
|
|
|
NM_001267550.2(TTN):c.71476del (p.Val23826fs)
|
|
|
NM_001267550.2(TTN):c.71525C>G (p.Ser23842Ter)
|
|
|
NM_001267550.2(TTN):c.71542_71564dup (p.Ser23856fs)
|
rs2154171645
|
|
NM_001267550.2(TTN):c.71550del (p.Leu23851fs)
|
|
|
NM_001267550.2(TTN):c.71563G>T (p.Gly23855Ter)
|
rs794729381
|
|
NM_001267550.2(TTN):c.71619G>A (p.Trp23873Ter)
|
|
|
NM_001267550.2(TTN):c.71634del (p.Ala23879fs)
|
rs727503565
|
|
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer)
|
rs1709360511
|
|
NM_001267550.2(TTN):c.71690_71691dup (p.Glu23898fs)
|
rs2154171550
|
|
NM_001267550.2(TTN):c.71835G>A (p.Trp23945Ter)
|
rs1217858818
|
|
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs)
|
rs1254650118
|
|
NM_001267550.2(TTN):c.71869del (p.Thr23957fs)
|
|
|
NM_001267550.2(TTN):c.71912G>A (p.Trp23971Ter)
|
|
|
NM_001267550.2(TTN):c.71990del (p.Phe23997fs)
|
|
|
NM_001267550.2(TTN):c.72025_72035del (p.Ile24008_Ser24009insTer)
|
|
|
NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter)
|
rs1709195189
|
|
NM_001267550.2(TTN):c.72130_72133del (p.Gly24044fs)
|
rs2154171220
|
|
NM_001267550.2(TTN):c.72226_72229dup (p.Glu24077fs)
|
|
|
NM_001267550.2(TTN):c.72339_72340del (p.Ile24114fs)
|
rs1559429489
|
|
NM_001267550.2(TTN):c.72356_72371dup (p.Gly24124_Pro24125insSerTer)
|
|
|
NM_001267550.2(TTN):c.72397del (p.Thr24133fs)
|
rs2154171047
|
|
NM_001267550.2(TTN):c.72410C>A (p.Ser24137Ter)
|
|
|
NM_001267550.2(TTN):c.72433_72434insGA (p.Phe24145Ter)
|
rs1709055431
|
|
NM_001267550.2(TTN):c.72441_72442del (p.Leu24148fs)
|
|
|
NM_001267550.2(TTN):c.72509G>A (p.Trp24170Ter)
|
rs2154170981
|
|
NM_001267550.2(TTN):c.72542dup (p.Leu24182fs)
|
rs1709014153
|
|
NM_001267550.2(TTN):c.72574G>T (p.Glu24192Ter)
|
rs2154170941
|
|
NM_001267550.2(TTN):c.72612_72616del (p.Val24205fs)
|
rs2154170904
|
|
NM_001267550.2(TTN):c.72613del (p.Val24205fs)
|
rs1708996209
|
|
NM_001267550.2(TTN):c.72630dup (p.Ser24211fs)
|
|
|
NM_001267550.2(TTN):c.72661G>T (p.Gly24221Ter)
|
|
|
NM_001267550.2(TTN):c.72668dup (p.Pro24223_Asp24224insTer)
|
|
|
NM_001267550.2(TTN):c.72688G>T (p.Glu24230Ter)
|
rs2154170836
|
|
NM_001267550.2(TTN):c.72730G>T (p.Gly24244Ter)
|
rs1708937897
|
|
NM_001267550.2(TTN):c.72756del (p.Ser24252fs)
|
|
|
NM_001267550.2(TTN):c.72767dup (p.Asn24256fs)
|
|
|
NM_001267550.2(TTN):c.72771dup (p.Ile24258fs)
|
|
|
NM_001267550.2(TTN):c.72816C>A (p.Cys24272Ter)
|
|
|
NM_001267550.2(TTN):c.72826del (p.Thr24276fs)
|
rs971618751
|
|
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs)
|
rs971618751
|
|
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs)
|
rs751319893
|
|
NM_001267550.2(TTN):c.72839T>G (p.Leu24280Ter)
|
|
|
NM_001267550.2(TTN):c.72867del (p.Gly24290fs)
|
rs2154170719
|
|
NM_001267550.2(TTN):c.72873del (p.His24291fs)
|
rs1575772360
|
|
NM_001267550.2(TTN):c.72935_72939del (p.Ser24312fs)
|
rs2154170669
|
|
NM_001267550.2(TTN):c.72945C>G (p.Tyr24315Ter)
|
rs879087983
|
|
NM_001267550.2(TTN):c.72956_72963del (p.Asp24319fs)
|
rs1064793876
|
|
NM_001267550.2(TTN):c.72963_72964del (p.Val24321_Phe24322insTer)
|
rs1708864326
|
|
NM_001267550.2(TTN):c.73044_73047dup (p.Asp24350delinsLeuTer)
|
|
|
NM_001267550.2(TTN):c.73046_73047del (p.Ile24348_Tyr24349insTer)
|
rs1708834541
|
|
NM_001267550.2(TTN):c.73047T>G (p.Tyr24349Ter)
|
rs2154170589
|
|
NM_001267550.2(TTN):c.73075_73076dup (p.Met24359fs)
|
rs1575769723
|
|
NM_001267550.2(TTN):c.73105_73115del (p.Glu24369fs)
|
rs2154170535
|
|
NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter)
|
rs869312115
|
|
NM_001267550.2(TTN):c.73110G>A (p.Trp24370Ter)
|
|
|
NM_001267550.2(TTN):c.73148C>A (p.Ser24383Ter)
|
|
|
NM_001267550.2(TTN):c.73156_73159dup (p.Thr24387fs)
|
rs2154170500
|
|
NM_001267550.2(TTN):c.73175_73178dup (p.Glu24394fs)
|
rs2154170480
|
|
NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter)
|
|
|
NM_001267550.2(TTN):c.73218_73222dup (p.Gly24408fs)
|
|
|
NM_001267550.2(TTN):c.73244del (p.Gly24415fs)
|
rs1708759700
|
|
NM_001267550.2(TTN):c.73285G>T (p.Glu24429Ter)
|
rs373773552
|
|
NM_001267550.2(TTN):c.73324_73328delinsC (p.Ala24442fs)
|
rs1553607562
|
|
NM_001267550.2(TTN):c.7332dup (p.Val2445fs)
|
|
|
NM_001267550.2(TTN):c.73346_73347del (p.Phe24449fs)
|
rs2154170352
|
|
NM_001267550.2(TTN):c.73347del (p.Phe24449fs)
|
rs2154170352
|
|
NM_001267550.2(TTN):c.73348del (p.Val24450fs)
|
|
|
NM_001267550.2(TTN):c.73387del (p.Ala24463fs)
|
rs1553607425
|
|
NM_001267550.2(TTN):c.73411_73414del (p.Asp24471fs)
|
rs1708673550
|
|
NM_001267550.2(TTN):c.73426G>T (p.Glu24476Ter)
|
rs760487688
|
|
NM_001267550.2(TTN):c.73508del (p.Asn24503fs)
|
rs886038839
|
|
NM_001267550.2(TTN):c.73522A>T (p.Lys24508Ter)
|
|
|
NM_001267550.2(TTN):c.73543dup (p.Arg24515fs)
|
rs2154170227
|
|
NM_001267550.2(TTN):c.73557_73558dup (p.Pro24520fs)
|
rs1559415816
|
|
NM_001267550.2(TTN):c.73568del (p.Pro24523fs)
|
rs1559415567
|
|
NM_001267550.2(TTN):c.73568dup (p.Gln24524fs)
|
|
|
NM_001267550.2(TTN):c.73581_73585del (p.Val24528fs)
|
rs1708609129
|
|
NM_001267550.2(TTN):c.73619G>A (p.Trp24540Ter)
|
|
|
NM_001267550.2(TTN):c.73620G>A (p.Trp24540Ter)
|
rs2154170160
|
|
NM_001267550.2(TTN):c.73646C>G (p.Ser24549Ter)
|
|
|
NM_001267550.2(TTN):c.73687A>T (p.Arg24563Ter)
|
|
|
NM_001267550.2(TTN):c.73734G>A (p.Trp24578Ter)
|
rs753105114
|
|
NM_001267550.2(TTN):c.73735_73738del (p.Trp24578_Lys24579insTer)
|
|
|
NM_001267550.2(TTN):c.73750C>T (p.Gln24584Ter)
|
|
|
NM_001267550.2(TTN):c.73792G>T (p.Glu24598Ter)
|
rs1708526179
|
|
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs)
|
rs1708504899
|
|
NM_001267550.2(TTN):c.73845del (p.Glu24615fs)
|
rs397517696
|
|
NM_001267550.2(TTN):c.73911G>A (p.Trp24637Ter)
|
rs1708468046
|
|
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter)
|
rs2154169928
|
|
NM_001267550.2(TTN):c.73974_73978del (p.Lys24658_Gly24659insTer)
|
rs2154169901
|
|
NM_001267550.2(TTN):c.73975_74029del (p.Gly24659fs)
|
|
|
NM_001267550.2(TTN):c.73998T>A (p.Cys24666Ter)
|
|
|
NM_001267550.2(TTN):c.74015del (p.Thr24672fs)
|
|
|
NM_001267550.2(TTN):c.74033_74036del (p.Gly24678fs)
|
rs2154169838
|
|
NM_001267550.2(TTN):c.74041C>T (p.Gln24681Ter)
|
rs1575756767
|
|
NM_001267550.2(TTN):c.74074C>T (p.Gln24692Ter)
|
|
|
NM_001267550.2(TTN):c.74099_74124del (p.Pro24700fs)
|
rs1708368133
|
|
NM_001267550.2(TTN):c.74202dup (p.Val24735fs)
|
rs2154169694
|
|
NM_001267550.2(TTN):c.74258del (p.Asn24753fs)
|
rs2154169665
|
|
NM_001267550.2(TTN):c.74358del (p.His24785_Tyr24786insTer)
|
rs1708277443
|
|
NM_001267550.2(TTN):c.74367del (p.Lys24789fs)
|
rs2154169575
|
|
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer)
|
rs1064796390
|
|
NM_001267550.2(TTN):c.74374_74377dup (p.Ser24793Ter)
|
|
|
NM_001267550.2(TTN):c.74452dup (p.Met24818fs)
|
rs2154169509
|
|
NM_001267550.2(TTN):c.74490G>A (p.Trp24830Ter)
|
rs1708235406
|
|
NM_001267550.2(TTN):c.74532del (p.Asn24843_Tyr24844insTer)
|
rs2154169439
|
|
NM_001267550.2(TTN):c.74536del (p.Val24846fs)
|
rs1553605154
|
|
NM_001267550.2(TTN):c.74569C>T (p.Gln24857Ter)
|
|
|
NM_001267550.2(TTN):c.74585del (p.Thr24862fs)
|
|
|
NM_001267550.2(TTN):c.74608del (p.Ala24870fs)
|
rs878854332
|
|
NM_001267550.2(TTN):c.74638C>T (p.Gln24880Ter)
|
rs1553604869
|
|
NM_001267550.2(TTN):c.74677_74678dup (p.Tyr24894fs)
|
rs2154169318
|
|
NM_001267550.2(TTN):c.74716_74719del (p.Phe24906fs)
|
rs2154169290
|
|
NM_001267550.2(TTN):c.74848del (p.Arg24950fs)
|
rs2154169198
|
|
NM_001267550.2(TTN):c.74852del (p.Asn24951fs)
|
|
|
NM_001267550.2(TTN):c.74987_74991dup (p.Ser24998fs)
|
rs1553604316
|
|
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter)
|
rs1561253718
|
|
NM_001267550.2(TTN):c.74995_74996del (p.Glu24999fs)
|
rs1708041287
|
|
NM_001267550.2(TTN):c.75080G>A (p.Trp25027Ter)
|
|
|
NM_001267550.2(TTN):c.75106_75110del (p.Ser25036fs)
|
rs2154169014
|
|
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs)
|
rs794729340
|
|
NM_001267550.2(TTN):c.75139G>T (p.Glu25047Ter)
|
|
|
NM_001267550.2(TTN):c.75148G>T (p.Glu25050Ter)
|
rs770754919
|
|
NM_001267550.2(TTN):c.75231T>A (p.Tyr25077Ter)
|
rs750699540
|
|
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter)
|
rs794729286
|
|
NM_001267550.2(TTN):c.75268_75274del (p.Phe25090fs)
|
rs2154168865
|
|
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter)
|
rs794729382
|
|
NM_001267550.2(TTN):c.75333_75334dup (p.Ser25112fs)
|
rs2154168819
|
|
NM_001267550.2(TTN):c.75354del (p.Asp25119fs)
|
rs1559394355
|
|
NM_001267550.2(TTN):c.75386dup (p.Lys25130fs)
|
rs1707893646
|
|
NM_001267550.2(TTN):c.75448C>T (p.Gln25150Ter)
|
|
|
NM_001267550.2(TTN):c.75458_75459dup (p.Asn25154fs)
|
|
|
NM_001267550.2(TTN):c.75482dup (p.Ser25162fs)
|
|
|
NM_001267550.2(TTN):c.75589del (p.Thr25196_Val25197insTer)
|
|
|
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)
|
rs1553603036
|
|
NM_001267550.2(TTN):c.75663del (p.Lys25221fs)
|
rs1131691542
|
|
NM_001267550.2(TTN):c.75663dup (p.Cys25222fs)
|
|
|
NM_001267550.2(TTN):c.75741del (p.Ser25248fs)
|
|
|
NM_001267550.2(TTN):c.75865G>T (p.Glu25289Ter)
|
|
|
NM_001267550.2(TTN):c.75895A>T (p.Lys25299Ter)
|
|
|
NM_001267550.2(TTN):c.75898_75901dup (p.Pro25301fs)
|
|
|
NM_001267550.2(TTN):c.75900del (p.Pro25301fs)
|
|
|
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter)
|
rs1553602546
|
|
NM_001267550.2(TTN):c.75984_75985insTACCA (p.Ala25329fs)
|
rs1707618662
|
|
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs)
|
rs774604740
|
|
NM_001267550.2(TTN):c.76134_76135del (p.Arg25378fs)
|
rs2154168209
|
|
NM_001267550.2(TTN):c.76155_76158dup (p.Leu25387fs)
|
|
|
NM_001267550.2(TTN):c.76210del (p.Tyr25404fs)
|
|
|
NM_001267550.2(TTN):c.76226del (p.Pro25409fs)
|
rs2154168142
|
|
NM_001267550.2(TTN):c.76240dup (p.Val25414fs)
|
rs1707514832
|
|
NM_001267550.2(TTN):c.76262C>A (p.Ser25421Ter)
|
rs1707503235
|
|
NM_001267550.2(TTN):c.76278G>A (p.Trp25426Ter)
|
rs1064794060
|
|
NM_001267550.2(TTN):c.76332dup (p.Cys25445fs)
|
rs1707471794
|
|
NM_001267550.2(TTN):c.76342_76345del (p.Ser25448fs)
|
|
|
NM_001267550.2(TTN):c.76342_76345dup (p.Val25449fs)
|
rs2154168044
|
|
NM_001267550.2(TTN):c.76355G>A (p.Trp25452Ter)
|
|
|
NM_001267550.2(TTN):c.76356G>A (p.Trp25452Ter)
|
rs2154168035
|
|
NM_001267550.2(TTN):c.76393_76396del (p.Thr25464_Asn25465insTer)
|
rs727504483
|
|
NM_001267550.2(TTN):c.76446_76447del (p.Ala25483fs)
|
rs1707425522
|
|
NM_001267550.2(TTN):c.76507del (p.Glu25503fs)
|
rs2154167928
|
|
NM_001267550.2(TTN):c.76513_76514dup (p.Leu25505fs)
|
|
|
NM_001267550.2(TTN):c.76540del (p.Asp25513_Leu25514insTer)
|
rs1559382080
|
|
NM_001267550.2(TTN):c.76721dup (p.Tyr25574Ter)
|
|
|
NM_001267550.2(TTN):c.76722T>A (p.Tyr25574Ter)
|
rs55696153
|
|
NM_001267550.2(TTN):c.76724_76727dup (p.Ser25576delinsArgTer)
|
rs2154167762
|
|
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter)
|
rs1707280155
|
|
NM_001267550.2(TTN):c.76743dup (p.Thr25582fs)
|
rs2154167743
|
|
NM_001267550.2(TTN):c.76748del (p.Thr25582_Leu25583insTer)
|
|
|
NM_001267550.2(TTN):c.76807dup (p.Ser25603fs)
|
rs2154167705
|
|
NM_001267550.2(TTN):c.76846_76847del (p.Asp25616fs)
|
rs1559378965
|
|
NM_001267550.2(TTN):c.76865G>A (p.Trp25622Ter)
|
rs756552975
|
|
NM_001267550.2(TTN):c.76945del (p.Ala25649fs)
|
rs1707205123
|
|
NM_001267550.2(TTN):c.76970del (p.Lys25657fs)
|
|
|
NM_001267550.2(TTN):c.76970dup (p.Asn25658fs)
|
|
|
NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter)
|
|
|
NM_001267550.2(TTN):c.77014dup (p.Tyr25672fs)
|
rs2154167532
|
|
NM_001267550.2(TTN):c.77026del (p.Thr25676fs)
|
rs2154167529
|
|
NM_001267550.2(TTN):c.77046dup (p.Ile25683fs)
|
|
|
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs)
|
rs794729343
|
|
NM_001267550.2(TTN):c.77147_77150del (p.Val25715_Ser25716insTer)
|
rs1466647934
|
|
NM_001267550.2(TTN):c.77157G>A (p.Trp25719Ter)
|
rs1707088255
|
|
NM_001267550.2(TTN):c.77177del (p.Gly25726fs)
|
rs794729344
|
|
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter)
|
rs765997807
|
|
NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter)
|
rs1575714442
|
|
NM_001267550.2(TTN):c.77263C>T (p.Gln25755Ter)
|
rs2154167332
|
|
NM_001267550.2(TTN):c.77299dup (p.Tyr25767fs)
|
|
|
NM_001267550.2(TTN):c.77326G>T (p.Glu25776Ter)
|
rs1553600058
|
|
NM_001267550.2(TTN):c.77404_77405insA (p.Pro25802fs)
|
|
|
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter)
|
rs794729287
|
|
NM_001267550.2(TTN):c.77452del (p.Glu25818fs)
|
|
|
NM_001267550.2(TTN):c.77510del (p.Pro25837fs)
|
|
|
NM_001267550.2(TTN):c.77546C>G (p.Ser25849Ter)
|
|
|
NM_001267550.2(TTN):c.77605G>T (p.Gly25869Ter)
|
|
|
NM_001267550.2(TTN):c.77610del (p.Thr25871fs)
|
rs1706840484
|
|
NM_001267550.2(TTN):c.77751T>A (p.Tyr25917Ter)
|
|
|
NM_001267550.2(TTN):c.77785C>T (p.Gln25929Ter)
|
|
|
NM_001267550.2(TTN):c.77843del (p.Thr25948fs)
|
|
|
NM_001267550.2(TTN):c.77853del (p.Lys25951_Val25952insTer)
|
|
|
NM_001267550.2(TTN):c.77884del (p.Gln25962fs)
|
|
|
NM_001267550.2(TTN):c.77902G>T (p.Glu25968Ter)
|
|
|
NM_001267550.2(TTN):c.77906dup (p.Asn25969fs)
|
rs1559368995
|
|
NM_001267550.2(TTN):c.77907_77908del (p.Asn25969fs)
|
rs2154166826
|
|
NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs)
|
rs1553597801
|
|
NM_001267550.2(TTN):c.78075C>A (p.Tyr26025Ter)
|
rs1553597198
|
|
NM_001267550.2(TTN):c.78097_78098del (p.Asn26033fs)
|
|
|
NM_001267550.2(TTN):c.78110G>A (p.Trp26037Ter)
|
|
|
NM_001267550.2(TTN):c.78153del (p.Ala26052fs)
|
rs2154166670
|
|
NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter)
|
rs869312057
|
|
NM_001267550.2(TTN):c.78192_78193del (p.Arg26064fs)
|
|
|
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter)
|
rs1553596594
|
|
NM_001267550.2(TTN):c.78231_78234del (p.Ser26077fs)
|
|
|
NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter)
|
rs747203787
|
|
NM_001267550.2(TTN):c.78278_78279del (p.Gly26093fs)
|
|
|
NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter)
|
rs1559364892
|
|
NM_001267550.2(TTN):c.78342T>G (p.Tyr26114Ter)
|
rs2154166540
|
|
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
|
|
|
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter)
|
rs1064793668
|
|
NM_001267550.2(TTN):c.78634A>T (p.Arg26212Ter)
|
rs1559362000
|
|
NM_001267550.2(TTN):c.78656del (p.Gly26219fs)
|
rs1706331057
|
|
NM_001267550.2(TTN):c.78689del (p.Gly26230fs)
|
rs2154166282
|
|
NM_001267550.2(TTN):c.78697G>T (p.Glu26233Ter)
|
rs267599036
|
|
NM_001267550.2(TTN):c.78749del (p.Leu26250fs)
|
rs1064793285
|
|
NM_001267550.2(TTN):c.78861_78864del (p.Gly26288fs)
|
|
|
NM_001267550.2(TTN):c.78924G>A (p.Trp26308Ter)
|
|
|
NM_001267550.2(TTN):c.79006dup (p.Val26336fs)
|
|
|
NM_001267550.2(TTN):c.79016C>A (p.Ser26339Ter)
|
|
|
NM_001267550.2(TTN):c.79041del (p.Val26348fs)
|
rs1706189208
|
|
NM_001267550.2(TTN):c.79137_79138dup (p.Met26380fs)
|
rs2154165980
|
|
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter)
|
rs1131691944
|
|
NM_001267550.2(TTN):c.79175del (p.Ser26392fs)
|
rs1706104379
|
|
NM_001267550.2(TTN):c.79185_79186insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGCTTGGAAGTC (p.Val26395_Thr26396insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysSerLeuGluVal)
|
|
|
NM_001267550.2(TTN):c.79199_79200del (p.Lys26400fs)
|
rs2154165935
|
|
NM_001267550.2(TTN):c.79273A>T (p.Lys26425Ter)
|
rs1706063163
|
|
NM_001267550.2(TTN):c.79278del (p.Asp26427fs)
|
rs1064796574
|
|
NM_001267550.2(TTN):c.79298G>A (p.Trp26433Ter)
|
rs1559355268
|
|
NM_001267550.2(TTN):c.79305del (p.Lys26435fs)
|
rs2154165874
|
|
NM_001267550.2(TTN):c.79368_79369del (p.Glu26456_Tyr26457insTer)
|
|
|
NM_001267550.2(TTN):c.79371T>A (p.Tyr26457Ter)
|
rs1706021639
|
|
NM_001267550.2(TTN):c.79427_79428dup (p.Val26477fs)
|
|
|
NM_001267550.2(TTN):c.79523G>A (p.Trp26508Ter)
|
|
|
NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter)
|
rs1575685597
|
|
NM_001267550.2(TTN):c.79602G>A (p.Trp26534Ter)
|
|
|
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter)
|
rs1064793911
|
|
NM_001267550.2(TTN):c.79639C>T (p.Arg26547Ter)
|
|
|
NM_001267550.2(TTN):c.79687dup (p.Val26563fs)
|
|
|
NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter)
|
rs1705879851
|
|
NM_001267550.2(TTN):c.79793T>G (p.Leu26598Ter)
|
rs1064794023
|
|
NM_001267550.2(TTN):c.79797_79822dup (p.Gly26608delinsGluLysGluLeuLeuTer)
|
rs2154165475
|
|
NM_001267550.2(TTN):c.79801G>T (p.Gly26601Ter)
|
rs773632027
|
|
NM_001267550.2(TTN):c.79806_79809del (p.Ile26602fs)
|
rs794729347
|
|
NM_001267550.2(TTN):c.79844_79848del (p.Pro26615fs)
|
|
|
NM_001267550.2(TTN):c.79878G>A (p.Trp26626Ter)
|
rs1705798888
|
|
NM_001267550.2(TTN):c.79912C>T (p.Gln26638Ter)
|
rs1705781269
|
|
NM_001267550.2(TTN):c.79917del (p.Ile26639fs)
|
rs1705777731
|
|
NM_001267550.2(TTN):c.79924G>T (p.Gly26642Ter)
|
|
|
NM_001267550.2(TTN):c.80000del (p.Asn26667fs)
|
|
|
NM_001267550.2(TTN):c.80044_80047dup (p.Thr26683fs)
|
rs1553586069
|
|
NM_001267550.2(TTN):c.80082_80086del (p.Val26695fs)
|
rs2154165293
|
|
NM_001267550.2(TTN):c.80125_80126dup (p.Asp26710fs)
|
rs1705700724
|
|
NM_001267550.2(TTN):c.80169dup (p.Glu26724Ter)
|
rs1705682545
|
|
NM_001267550.2(TTN):c.80174_80202dup (p.Ser26735delinsGlnProGluLysArgMetLeuMetTer)
|
rs2154165199
|
|
NM_001267550.2(TTN):c.80218del (p.Thr26740fs)
|
|
|
NM_001267550.2(TTN):c.80259T>G (p.Tyr26753Ter)
|
rs895018646
|
|
NM_001267550.2(TTN):c.80268_80269del (p.Arg26756fs)
|
rs2154165154
|
|
NM_001267550.2(TTN):c.80361del (p.Thr26788fs)
|
|
|
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter)
|
rs2154165062
|
|
NM_001267550.2(TTN):c.80386del (p.Ser26796fs)
|
rs1651641615
|
|
NM_001267550.2(TTN):c.80445C>A (p.Tyr26815Ter)
|
rs759414143
|
|
NM_001267550.2(TTN):c.80458C>T (p.Gln26820Ter)
|
rs2154164995
|
|
NM_001267550.2(TTN):c.80466dup (p.Gly26823fs)
|
|
|
NM_001267550.2(TTN):c.80478dup (p.Trp26827fs)
|
|
|
NM_001267550.2(TTN):c.80539C>T (p.Gln26847Ter)
|
|
|
NM_001267550.2(TTN):c.80547T>A (p.Tyr26849Ter)
|
rs1575673206
|
|
NM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter)
|
rs1575673206
|
|
NM_001267550.2(TTN):c.80568T>A (p.Tyr26856Ter)
|
rs769878576
|
|
NM_001267550.2(TTN):c.80578G>T (p.Gly26860Ter)
|
|
|
NM_001267550.2(TTN):c.80584del (p.Ser26862fs)
|
rs794729348
|
|
NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter)
|
rs79926414
|
|
NM_001267550.2(TTN):c.80666del (p.Tyr26889fs)
|
rs2154164836
|
|
NM_001267550.2(TTN):c.80736_80742del (p.Trp26913fs)
|
rs1575670635
|
|
NM_001267550.2(TTN):c.80740dup (p.Val26914fs)
|
rs2154164758
|
|
NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs)
|
rs2154164725
|
|
NM_001267550.2(TTN):c.80772_80773del (p.Arg26925fs)
|
|
|
NM_001267550.2(TTN):c.80792dup (p.Ala26932fs)
|
rs2154164664
|
|
NM_001267550.2(TTN):c.80801C>G (p.Ser26934Ter)
|
|
|
NM_001267550.2(TTN):c.80850C>A (p.Tyr26950Ter)
|
rs794729291
|
|
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter)
|
rs794729291
|
|
NM_001267550.2(TTN):c.80927_80928del (p.Pro26976fs)
|
rs2154164271
|
|
NM_001267550.2(TTN):c.80927del (p.Pro26976fs)
|
rs2154164277
|
|
NM_001267550.2(TTN):c.80943dup (p.Phe26982fs)
|
|
|
NM_001267550.2(TTN):c.80950_80951del (p.Glu26984fs)
|
|
|
NM_001267550.2(TTN):c.80975dup (p.Ser26993fs)
|
|
|
NM_001267550.2(TTN):c.80997T>A (p.Tyr26999Ter)
|
|
|
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)
|
rs869038795
|
|
NM_001267550.2(TTN):c.81059G>A (p.Trp27020Ter)
|
|
|
NM_001267550.2(TTN):c.81096del (p.Lys27033_Ile27034insTer)
|
rs2154163856
|
|
NM_001267550.2(TTN):c.81100_81103dup (p.Thr27035fs)
|
rs1060500593
|
|
NM_001267550.2(TTN):c.81126del (p.Glu27042fs)
|
rs1553579429
|
|
NM_001267550.2(TTN):c.81199C>T (p.Gln27067Ter)
|
|
|
NM_001267550.2(TTN):c.81202del (p.Tyr27068fs)
|
rs794729394
|
|
NM_001267550.2(TTN):c.81227_81233del (p.Pro27076fs)
|
|
|
NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs)
|
rs749610641
|
|
NM_001267550.2(TTN):c.81254C>G (p.Ser27085Ter)
|
rs1705109191
|
|
NM_001267550.2(TTN):c.81259del (p.Asp27087fs)
|
rs2154163570
|
|
NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs)
|
rs869312059
|
|
NM_001267550.2(TTN):c.81281dup (p.His27094fs)
|
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
NM_001267550.2(TTN):c.81323del (p.His27108fs)
|
rs1575663530
|
|
NM_001267550.2(TTN):c.81337G>T (p.Glu27113Ter)
|
rs794729292
|
|
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs)
|
rs886038928
|
|
NM_001267550.2(TTN):c.81341del (p.Lys27114fs)
|
|
|
NM_001267550.2(TTN):c.81357G>A (p.Trp27119Ter)
|
|
|
NM_001267550.2(TTN):c.81372_81373del (p.Lys27124fs)
|
rs2154163297
|
|
NM_001267550.2(TTN):c.81379del (p.Ile27127fs)
|
rs2154163264
|
|
NM_001267550.2(TTN):c.81411del (p.Asp27138fs)
|
rs2154163173
|
|
NM_001267550.2(TTN):c.81455_81456del (p.Ile27152fs)
|
|
|
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)
|
rs397517721
|
|
NM_001267550.2(TTN):c.81557_81564del (p.Asn27186fs)
|
rs2154162877
|
|
NM_001267550.2(TTN):c.81561_81562insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAACAATGTC (p.Val27187_Thr27188insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysArgAsnAsnVal)
|
rs2154162886
|
|
NM_001267550.2(TTN):c.81573del (p.Lys27190_Trp27191insTer)
|
rs2154162859
|
|
NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)
|
|
|
NM_001267550.2(TTN):c.81629_81632del (p.Lys27210fs)
|
|
|
NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter)
|
rs1559330805
|
|
NM_001267550.2(TTN):c.81718del (p.Arg27240fs)
|
rs1575658959
|
|
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)
|
rs769821404
|
|
NM_001267550.2(TTN):c.81758del (p.Asn27253fs)
|
rs2154162603
|
|
NM_001267550.2(TTN):c.81802del (p.Asp27268fs)
|
rs2154162514
|
|
NM_001267550.2(TTN):c.81805G>T (p.Glu27269Ter)
|
|
|
NM_001267550.2(TTN):c.81847_81850del (p.Asp27283fs)
|
|
|
NM_001267550.2(TTN):c.81886del (p.Glu27296fs)
|
rs727503557
|
|
NM_001267550.2(TTN):c.81912_81919dup (p.Val27307fs)
|
|
|
NM_001267550.2(TTN):c.81943G>T (p.Glu27315Ter)
|
rs373533040
|
|
NM_001267550.2(TTN):c.82001_82002del (p.Leu27334fs)
|
rs1704746759
|
|
NM_001267550.2(TTN):c.82044del (p.Ile27348_Leu27349insTer)
|
|
|
NM_001267550.2(TTN):c.82113_82132dup (p.Lys27378delinsSerLeuLeuLysGlyLeuTer)
|
rs2154161823
|
|
NM_001267550.2(TTN):c.82172G>A (p.Trp27391Ter)
|
rs2154161781
|
|
NM_001267550.2(TTN):c.82186dup (p.Gln27396fs)
|
|
|
NM_001267550.2(TTN):c.82193del (p.Gly27398fs)
|
rs1064795346
|
|
NM_001267550.2(TTN):c.82208C>G (p.Ser27403Ter)
|
rs1704654934
|
|
NM_001267550.2(TTN):c.82226del (p.Lys27409fs)
|
rs1575653015
|
|
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter)
|
rs2154161716
|
|
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter)
|
rs371332011
|
|
NM_001267550.2(TTN):c.82299del (p.Lys27433fs)
|
rs2154161694
|
|
NM_001267550.2(TTN):c.82350T>G (p.Tyr27450Ter)
|
rs1060503941
|
|
NM_001267550.2(TTN):c.82409del (p.Pro27470fs)
|
|
|
NM_001267550.2(TTN):c.82415_82419dup (p.Ser27474fs)
|
|
|
NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter)
|
|
|
NM_001267550.2(TTN):c.82512C>A (p.Tyr27504Ter)
|
rs1181684993
|
|
NM_001267550.2(TTN):c.82529del (p.Asp27510fs)
|
|
|
NM_001267550.2(TTN):c.82535_82538del (p.Glu27512fs)
|
|
|
NM_001267550.2(TTN):c.82536del (p.Gly27513fs)
|
rs2154161517
|
|
NM_001267550.2(TTN):c.82547G>A (p.Trp27516Ter)
|
rs2154161494
|
|
NM_001267550.2(TTN):c.82576del (p.Asp27526fs)
|
|
|
NM_001267550.2(TTN):c.82592_82593del (p.Val27531fs)
|
rs1704477893
|
|
NM_001267550.2(TTN):c.82594dup (p.Thr27532fs)
|
rs1064795407
|
|
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)
|
rs779874042
|
|
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)
|
rs869178171
|
|
NM_001267550.2(TTN):c.82673dup (p.Ser27559fs)
|
rs1704426915
|
|
NM_001267550.2(TTN):c.82684_82685insSVAelement
|
|
|
NM_001267550.2(TTN):c.82727del (p.Asn27576fs)
|
|
|
NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter)
|
rs368850871
|
|
NM_001267550.2(TTN):c.82786del (p.Tyr27596fs)
|
rs1704380780
|
|
NM_001267550.2(TTN):c.82822G>T (p.Glu27608Ter)
|
rs1704361187
|
|
NM_001267550.2(TTN):c.82843del (p.Asp27615fs)
|
|
|
NM_001267550.2(TTN):c.82847_82850del (p.Glu27616fs)
|
rs2154161251
|
|
NM_001267550.2(TTN):c.82879C>T (p.Gln27627Ter)
|
rs747365357
|
|
NM_001267550.2(TTN):c.82895_82896del (p.Thr27632fs)
|
rs796267411
|
|
NM_001267550.2(TTN):c.82909A>T (p.Lys27637Ter)
|
|
|
NM_001267550.2(TTN):c.82999C>T (p.Gln27667Ter)
|
rs2154161170
|
|
NM_001267550.2(TTN):c.83048del (p.Lys27683fs)
|
rs1060500572
|
|
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs)
|
rs869312037
|
|
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)
|
rs1559314812
|
|
NM_001267550.2(TTN):c.83125_83131del (p.Trp27709fs)
|
|
|
NM_001267550.2(TTN):c.83126G>A (p.Trp27709Ter)
|
rs2154161090
|
|
NM_001267550.2(TTN):c.83232T>A (p.Tyr27744Ter)
|
|
|
NM_001267550.2(TTN):c.83297C>A (p.Ser27766Ter)
|
|
|
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs)
|
rs2154160971
|
|
NM_001267550.2(TTN):c.83335A>T (p.Lys27779Ter)
|
rs2154160959
|
|
NM_001267550.2(TTN):c.83345C>G (p.Ser27782Ter)
|
rs769862471
|
|
NM_001267550.2(TTN):c.83384del (p.Gly27795fs)
|
rs1704151765
|
|
NM_001267550.2(TTN):c.83504_83505del (p.Ser27835fs)
|
|
|
NM_001267550.2(TTN):c.83609dup (p.Thr27871fs)
|
|
|
NM_001267550.2(TTN):c.83635del (p.Thr27879fs)
|
|
|
NM_001267550.2(TTN):c.83653G>T (p.Glu27885Ter)
|
rs794729295
|
|
NM_001267550.2(TTN):c.83730G>A (p.Trp27910Ter)
|
|
|
NM_001267550.2(TTN):c.83739C>A (p.Cys27913Ter)
|
|
|
NM_001267550.2(TTN):c.83747_83751del (p.Val27916fs)
|
|
|
NM_001267550.2(TTN):c.83788_83789del (p.Glu27930fs)
|
rs1553567622
|
|
NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs)
|
rs1575633082
|
|
NM_001267550.2(TTN):c.83971C>T (p.Gln27991Ter)
|
rs1703920233
|
|
NM_001267550.2(TTN):c.84024_84025del (p.Arg28008fs)
|
rs1575630957
|
|
NM_001267550.2(TTN):c.84062_84065del (p.Ser28021fs)
|
rs1703876192
|
|
NM_001267550.2(TTN):c.84063_84066del (p.Ile28022fs)
|
rs796692860
|
|
NM_001267550.2(TTN):c.84070_84073del (p.Glu28024fs)
|
rs2154160472
|
|
NM_001267550.2(TTN):c.84099T>A (p.Tyr28033Ter)
|
rs762450131
|
|
NM_001267550.2(TTN):c.84109_84110del (p.Val28037fs)
|
rs2154160413
|
|
NM_001267550.2(TTN):c.84202_84205del (p.Ser28068fs)
|
|
|
NM_001267550.2(TTN):c.84228del (p.Ser28075_Trp28076insTer)
|
rs1703813514
|
|
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs)
|
rs1553565463
|
|
NM_001267550.2(TTN):c.84353del (p.Arg28118fs)
|
|
|
NM_001267550.2(TTN):c.84365del (p.Gly28122fs)
|
rs750146750
|
|
NM_001267550.2(TTN):c.84370_84373del (p.Glu28124fs)
|
rs1559301344
|
|
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter)
|
rs869312119
|
|
NM_001267550.2(TTN):c.84405T>G (p.Tyr28135Ter)
|
rs756176112
|
|
NM_001267550.2(TTN):c.84464del (p.Pro28155fs)
|
|
|
NM_001267550.2(TTN):c.84482del (p.Pro28161fs)
|
rs1060500556
|
|
NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter)
|
rs2154159874
|
|
NM_001267550.2(TTN):c.84537_84540dup (p.Asp28181Ter)
|
|
|
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs)
|
rs1703664543
|
|
NM_001267550.2(TTN):c.84602G>A (p.Trp28201Ter)
|
rs2154159779
|
|
NM_001267550.2(TTN):c.84607A>T (p.Lys28203Ter)
|
|
|
NM_001267550.2(TTN):c.84619del (p.Ile28207fs)
|
rs2154159753
|
|
NM_001267550.2(TTN):c.84631del (p.Asp28211fs)
|
rs1703651493
|
|
NM_001267550.2(TTN):c.84641_84645del (p.Met28214fs)
|
|
|
NM_001267550.2(TTN):c.84642del (p.Met28214fs)
|
|
|
NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter)
|
rs2154159715
|
|
NM_001267550.2(TTN):c.84819del (p.Trp28273fs)
|
rs2154159514
|
|
NM_001267550.2(TTN):c.84820dup (p.Ser28274fs)
|
rs2154159502
|
|
NM_001267550.2(TTN):c.84897G>A (p.Trp28299Ter)
|
rs794729296
|
|
NM_001267550.2(TTN):c.84922del (p.Gln28308fs)
|
rs2154159416
|
|
NM_001267550.2(TTN):c.84958_84959delinsT (p.Asp28320fs)
|
rs1703522059
|
|
NM_001267550.2(TTN):c.84984del (p.Phe28328fs)
|
|
|
NM_001267550.2(TTN):c.84984dup (p.Ala28329fs)
|
rs2154159353
|
|
NM_001267550.2(TTN):c.85005dup (p.Val28336fs)
|
|
|
NM_001267550.2(TTN):c.85013_85014del (p.Glu28338fs)
|
rs2154159323
|
|
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter)
|
rs1703437679
|
|
NM_001267550.2(TTN):c.85180dup (p.Asp28394fs)
|
|
|
NM_001267550.2(TTN):c.85254del (p.Asp28419fs)
|
|
|
NM_001267550.2(TTN):c.85262dup (p.Arg28422fs)
|
|
|
NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter)
|
rs769664554
|
|
NM_001267550.2(TTN):c.85359del (p.Pro28454fs)
|
|
|
NM_001267550.2(TTN):c.85408_85409del (p.Leu28470fs)
|
rs2154159007
|
|
NM_001267550.2(TTN):c.85431del (p.Asp28478fs)
|
rs1703325248
|
|
NM_001267550.2(TTN):c.85458del (p.Tyr28485_Tyr28486insTer)
|
rs2154158972
|
|
NM_001267550.2(TTN):c.85486del (p.Ala28497fs)
|
rs2154158948
|
|
NM_001267550.2(TTN):c.85493G>A (p.Trp28498Ter)
|
|
|
NM_001267550.2(TTN):c.85494G>A (p.Trp28498Ter)
|
|
|
NM_001267550.2(TTN):c.85514T>G (p.Leu28505Ter)
|
rs1057520803
|
|
NM_001267550.2(TTN):c.85519dup (p.Met28507fs)
|
rs1575614351
|
|
NM_001267550.2(TTN):c.85525dup (p.Ser28509fs)
|
rs2154158897
|
|
NM_001267550.2(TTN):c.85544T>G (p.Leu28515Ter)
|
rs886041441
|
|
NM_001267550.2(TTN):c.85546del (p.Leu28516fs)
|
rs2154158876
|
|
NM_001267550.2(TTN):c.85589_85592del (p.Lys28530fs)
|
rs1553562793
|
|
NM_001267550.2(TTN):c.85612_85619del (p.Glu28538fs)
|
rs794729353
|
|
NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs)
|
rs762286447
|
|
NM_001267550.2(TTN):c.85707_85708del (p.Cys28570fs)
|
rs1219440385
|
|
NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter)
|
rs1575612435
|
|
NM_001267550.2(TTN):c.85755T>A (p.Tyr28585Ter)
|
rs1553562490
|
|
NM_001267550.2(TTN):c.85790G>A (p.Trp28597Ter)
|
|
|
NM_001267550.2(TTN):c.85811del (p.Pro28604fs)
|
|
|
NM_001267550.2(TTN):c.85860del (p.Glu28620fs)
|
rs1575611108
|
|
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter)
|
rs72648224
|
|
NM_001267550.2(TTN):c.86003dup (p.Thr28669fs)
|
rs1559284676
|
|
NM_001267550.2(TTN):c.86015G>A (p.Trp28672Ter)
|
rs1559284497
|
|
NM_001267550.2(TTN):c.86016G>A (p.Trp28672Ter)
|
rs1553562022
|
|
NM_001267550.2(TTN):c.86036dup (p.Gly28680fs)
|
rs2154158408
|
|
NM_001267550.2(TTN):c.86076del (p.Lys28692fs)
|
rs1285329277
|
|
NM_001267550.2(TTN):c.86162_86163del (p.Tyr28721fs)
|
rs2154158304
|
|
NM_001267550.2(TTN):c.86219_86220del (p.Ser28739_Ser28740insTer)
|
|
|
NM_001267550.2(TTN):c.86251G>T (p.Glu28751Ter)
|
rs772058084
|
|
NM_001267550.2(TTN):c.86290_86299del (p.Leu28764fs)
|
rs2154158204
|
|
NM_001267550.2(TTN):c.86290_86302del (p.Ile28765fs)
|
rs2154158200
|
|
NM_001267550.2(TTN):c.86290_86303delinsA (p.Leu28764fs)
|
rs1064792916
|
|
NM_001267550.2(TTN):c.86333del (p.Phe28778fs)
|
|
|
NM_001267550.2(TTN):c.86354_86821+291del
|
rs1559272130
|
|
NM_001267550.2(TTN):c.86392A>T (p.Arg28798Ter)
|
|
|
NM_001267550.2(TTN):c.86399_86403del (p.Ala28799_Tyr28800insTer)
|
|
|
NM_001267550.2(TTN):c.86407_86408dup (p.Thr28804fs)
|
rs2154158109
|
|
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter)
|
rs1553560951
|
|
NM_001267550.2(TTN):c.86441del (p.Asn28814fs)
|
|
|
NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter)
|
rs794729297
|
|
NM_001267550.2(TTN):c.86570dup (p.Thr28858fs)
|
rs2154157942
|
|
NM_001267550.2(TTN):c.86597G>A (p.Trp28866Ter)
|
|
|
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter)
|
rs794729298
|
|
NM_001267550.2(TTN):c.86640C>G (p.Tyr28880Ter)
|
rs794729298
|
|
NM_001267550.2(TTN):c.86670del (p.Ala28891fs)
|
rs1702795017
|
|
NM_001267550.2(TTN):c.86675G>A (p.Trp28892Ter)
|
rs745896785
|
|
NM_001267550.2(TTN):c.86676G>A (p.Trp28892Ter)
|
|
|
NM_001267550.2(TTN):c.86699del (p.Asn28900fs)
|
rs2154157834
|
|
NM_001267550.2(TTN):c.86742_86745del (p.Tyr28915fs)
|
rs1415420768
|
|
NM_001267550.2(TTN):c.86754_86755del (p.Arg28918fs)
|
|
|
NM_001267550.2(TTN):c.86822-1del
|
|
|
NM_001267550.2(TTN):c.86889G>A (p.Trp28963Ter)
|
rs1702376984
|
|
NM_001267550.2(TTN):c.86889del (p.Trp28963fs)
|
rs1559268818
|
|
NM_001267550.2(TTN):c.86905del (p.Asp28969fs)
|
|
|
NM_001267550.2(TTN):c.86911G>T (p.Gly28971Ter)
|
|
|
NM_001267550.2(TTN):c.86966G>A (p.Trp28989Ter)
|
rs1702355636
|
|
NM_001267550.2(TTN):c.86975del (p.Cys28992fs)
|
|
|
NM_001267550.2(TTN):c.87004_87005del (p.Val29002fs)
|
|
|
NM_001267550.2(TTN):c.87019_87022del (p.Glu29007fs)
|
rs1559267059
|
|
NM_001267550.2(TTN):c.87028del (p.Glu29010fs)
|
rs1702337235
|
|
NM_001267550.2(TTN):c.87046_87049del (p.Phe29016fs)
|
rs1575592653
|
|
NM_001267550.2(TTN):c.87077dup (p.Arg29027fs)
|
|
|
NM_001267550.2(TTN):c.87106A>T (p.Lys29036Ter)
|
|
|
NM_001267550.2(TTN):c.87116_87117dup (p.Glu29040Ter)
|
rs2154156468
|
|
NM_001267550.2(TTN):c.87118+1G>A
|
|
|
NM_001267550.2(TTN):c.87137_87138del (p.Met29046fs)
|
rs1702243883
|
|
NM_001267550.2(TTN):c.87179C>G (p.Ser29060Ter)
|
|
|
NM_001267550.2(TTN):c.87233T>G (p.Leu29078Ter)
|
rs2154156172
|
|
NM_001267550.2(TTN):c.87238del (p.Arg29080fs)
|
|
|
NM_001267550.2(TTN):c.87253del (p.Lys29086fs)
|
rs2154156150
|
|
NM_001267550.2(TTN):c.87253delinsTTA (p.Lys29086fs)
|
rs1702209747
|
|
NM_001267550.2(TTN):c.87273dup (p.Asn29092Ter)
|
|
|
NM_001267550.2(TTN):c.87295_87296insT (p.Asn29099fs)
|
|
|
NM_001267550.2(TTN):c.87340A>T (p.Arg29114Ter)
|
|
|
NM_001267550.2(TTN):c.87346_87368dup (p.Ser29123fs)
|
|
|
NM_001267550.2(TTN):c.87366del (p.Ser29123fs)
|
rs2154156075
|
|
NM_001267550.2(TTN):c.87376_87383dup (p.Phe29129fs)
|
rs1702151195
|
|
NM_001267550.2(TTN):c.87451del (p.Thr29151fs)
|
rs2154156000
|
|
NM_001267550.2(TTN):c.87470_87471del (p.Leu29157fs)
|
rs2154155985
|
|
NM_001267550.2(TTN):c.87505C>T (p.Gln29169Ter)
|
|
|
NM_001267550.2(TTN):c.87515dup (p.Asn29172fs)
|
|
|
NM_001267550.2(TTN):c.87532_87538del (p.Arg29178fs)
|
rs2154155943
|
|
NM_001267550.2(TTN):c.87554G>A (p.Trp29185Ter)
|
rs1057518275
|
|
NM_001267550.2(TTN):c.87566_87567del (p.Ser29189fs)
|
rs2154155928
|
|
NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter)
|
rs772121356
|
|
NM_001267550.2(TTN):c.87664dup (p.Asp29222fs)
|
rs2154155844
|
|
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter)
|
rs1575584918
|
|
NM_001267550.2(TTN):c.87707dup (p.Thr29237fs)
|
rs1575583160
|
|
NM_001267550.2(TTN):c.87716del (p.Gly29239fs)
|
rs869312028
|
|
NM_001267550.2(TTN):c.87733dup (p.Trp29245fs)
|
rs1553553671
|
|
NM_001267550.2(TTN):c.87734G>A (p.Trp29245Ter)
|
rs1701973330
|
|
NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter)
|
rs794729299
|
|
NM_001267550.2(TTN):c.87764del (p.Thr29255fs)
|
rs2154155659
|
|
NM_001267550.2(TTN):c.87816T>A (p.Tyr29272Ter)
|
|
|
NM_001267550.2(TTN):c.87834_87835del (p.Asp29278fs)
|
rs2154155619
|
|
NM_001267550.2(TTN):c.87834_87837del (p.Asp29278fs)
|
|
|
NM_001267550.2(TTN):c.87835del (p.Arg29279fs)
|
rs2154155616
|
|
NM_001267550.2(TTN):c.87836_87837del (p.Arg29279fs)
|
rs2154155607
|
|
NM_001267550.2(TTN):c.87848T>G (p.Leu29283Ter)
|
|
|
NM_001267550.2(TTN):c.87852G>A (p.Trp29284Ter)
|
rs1701925645
|
|
NM_001267550.2(TTN):c.87888del (p.Phe29297fs)
|
rs1060500399
|
|
NM_001267550.2(TTN):c.87931_87935dup (p.Tyr29313fs)
|
rs2154155550
|
|
NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter)
|
rs200314496
|
|
NM_001267550.2(TTN):c.87947del (p.Asn29316fs)
|
|
|
NM_001267550.2(TTN):c.87954del (p.Gly29319fs)
|
rs2154155537
|
|
NM_001267550.2(TTN):c.87977del (p.Pro29326fs)
|
|
|
NM_001267550.2(TTN):c.88009+2T>G
|
rs1701869111
|
|
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)
|
rs878854428
|
|
NM_001267550.2(TTN):c.88091_88094del (p.Gly29364fs)
|
rs2154155280
|
|
NM_001267550.2(TTN):c.88092dup (p.Ser29365Ter)
|
|
|
NM_001267550.2(TTN):c.88177del (p.Thr29393fs)
|
rs1575576927
|
|
NM_001267550.2(TTN):c.88204C>T (p.Gln29402Ter)
|
rs1701741963
|
|
NM_001267550.2(TTN):c.88306+1G>C
|
rs727503550
|
|
NM_001267550.2(TTN):c.88307-1G>A
|
|
|
NM_001267550.2(TTN):c.88313dup (p.Val29439fs)
|
rs2154153508
|
|
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter)
|
rs1553547657
|
|
NM_001267550.2(TTN):c.88437dup (p.Glu29480fs)
|
rs2154153430
|
|
NM_001267550.2(TTN):c.88521_88522del (p.Asn29507fs)
|
|
|
NM_001267550.2(TTN):c.88562C>A (p.Ser29521Ter)
|
rs1436663696
|
|
NM_001267550.2(TTN):c.88594+2T>G
|
rs1057520744
|
|
NM_001267550.2(TTN):c.88594_88595insGTAGGTGCTGAATACAGACCACTGTCATATTACATTTGCCTAAAGCTTAGTAATTTTGAACAAGTAGGCTTTAAAGAAGTACTAACATCGTGTTTTGTCCTTTCACTGATAGACAAACCAGGCCCACCTGGTGGACCAATTGAATTTAAGACTGTAACTGCTGAGAAGATCACCCTTCTCTGGCGGCCTCCAGCTGATGATGGTGGTGAAACCTGCGCCTACTATTGAGTGGTATAAAGATGATAAAGAATTACAAACCAATGCACTGGTGTGTGTTGAAAATACCACGGACCTCGCATCTATACTCATCAAAGATGCCGATCGCCTTAATAGTGGATGCTATGAATTAAAACTAAGGAATGCCATGGGCTCAGCCTCAGCCACCATCAGAGTACAGATCCTTGGTAGGTGCTGAATACAGACCACTGTCATATTACATTTGCCTAAAGCTTAGTAATTTTGAACAAGTAGGCTTTAAAGAAGTACTAACATCGTGTTTTGTCCTTTCACTGATAG (p.Asp29532delinsGlyArgCysTer)
|
|
|
NM_001267550.2(TTN):c.88703_88704del (p.His29568fs)
|
rs794729360
|
|
NM_001267550.2(TTN):c.88721del (p.Arg29574fs)
|
rs1575547155
|
|
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)
|
rs766450773
|
|
NM_001267550.2(TTN):c.88852_88855del (p.Glu29618fs)
|
rs2154152955
|
|
NM_001267550.2(TTN):c.88895-1G>A
|
rs1575540533
|
|
NM_001267550.2(TTN):c.88954_88955del (p.Val29652fs)
|
|
|
NM_001267550.2(TTN):c.88979_88985del (p.Asp29660fs)
|
rs794727468
|
|
NM_001267550.2(TTN):c.89006del (p.Phe29669fs)
|
rs794729361
|
|
NM_001267550.2(TTN):c.89006dup (p.Leu29670fs)
|
rs794729361
|
|
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)
|
rs886038916
|
|
NM_001267550.2(TTN):c.89053A>T (p.Lys29685Ter)
|
|
|
NM_001267550.2(TTN):c.89075_89078del (p.Arg29692fs)
|
|
|
NM_001267550.2(TTN):c.89077C>T (p.Gln29693Ter)
|
|
|
NM_001267550.2(TTN):c.89083del (p.Lys29694_Val29695insTer)
|
rs2154152514
|
|
NM_001267550.2(TTN):c.89118C>A (p.Tyr29706Ter)
|
rs1700331549
|
|
NM_001267550.2(TTN):c.89121_89122del (p.Arg29707fs)
|
rs2154152480
|
|
NM_001267550.2(TTN):c.89144dup (p.Gln29716fs)
|
|
|
NM_001267550.2(TTN):c.89150del (p.Gly29717fs)
|
rs2154152449
|
|
NM_001267550.2(TTN):c.89178C>G (p.Tyr29726Ter)
|
|
|
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)
|
rs1553543413
|
|
NM_001267550.2(TTN):c.89222_89226del (p.Ile29741fs)
|
rs1575534947
|
|
NM_001267550.2(TTN):c.89270del (p.Lys29757fs)
|
rs794729362
|
|
NM_001267550.2(TTN):c.89275_89278del (p.Val29759fs)
|
|
|
NM_001267550.2(TTN):c.89280T>A (p.Tyr29760Ter)
|
rs794729385
|
|
NM_001267550.2(TTN):c.89306_89307del (p.Tyr29769fs)
|
|
|
NM_001267550.2(TTN):c.89307T>A (p.Tyr29769Ter)
|
|
|
NM_001267550.2(TTN):c.89307T>G (p.Tyr29769Ter)
|
|
|
NM_001267550.2(TTN):c.89322_89326del (p.Gln29775fs)
|
|
|
NM_001267550.2(TTN):c.89332del (p.Glu29778fs)
|
|
|
NM_001267550.2(TTN):c.89335G>T (p.Glu29779Ter)
|
rs2154152175
|
|
NM_001267550.2(TTN):c.89342G>A (p.Trp29781Ter)
|
|
|
NM_001267550.2(TTN):c.8938_8939insTTGG (p.Ala2980fs)
|
|
|
NM_001267550.2(TTN):c.8938del (p.Ala2980fs)
|
|
|
NM_001267550.2(TTN):c.89425del (p.Arg29809fs)
|
|
|
NM_001267550.2(TTN):c.89445_89446del (p.Ala29816fs)
|
|
|
NM_001267550.2(TTN):c.89475_89478del (p.Glu29826fs)
|
|
|
NM_001267550.2(TTN):c.89503+1G>C
|
rs1559218619
|
|
NM_001267550.2(TTN):c.89504-2_89509del
|
|
|
NM_001267550.2(TTN):c.89553del (p.Ala29853fs)
|
rs1575529262
|
|
NM_001267550.2(TTN):c.89619dup (p.Arg29874fs)
|
|
|
NM_001267550.2(TTN):c.89625del (p.Asp29876fs)
|
rs1559216544
|
|
NM_001267550.2(TTN):c.89658C>A (p.Tyr29886Ter)
|
rs1700085960
|
|
NM_001267550.2(TTN):c.89684C>G (p.Ser29895Ter)
|
|
|
NM_001267550.2(TTN):c.89786_89787dup (p.Val29930fs)
|
|
|
NM_001267550.2(TTN):c.89827A>T (p.Lys29943Ter)
|
rs2154151737
|
|
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter)
|
rs727505224
|
|
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter)
|
rs1060500457
|
|
NM_001267550.2(TTN):c.89882_89885del (p.Gly29961fs)
|
rs2154151697
|
|
NM_001267550.2(TTN):c.89884G>T (p.Gly29962Ter)
|
rs2154151700
|
|
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)
|
rs869312081
|
|
NM_001267550.2(TTN):c.89940del (p.Trp29980fs)
|
|
|
NM_001267550.2(TTN):c.89979del (p.Lys29993fs)
|
|
|
NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter)
|
rs376543931
|
|
NM_001267550.2(TTN):c.90058G>T (p.Glu30020Ter)
|
rs1699956677
|
|
NM_001267550.2(TTN):c.90085G>T (p.Glu30029Ter)
|
rs1699948037
|
|
NM_001267550.2(TTN):c.90113C>G (p.Ser30038Ter)
|
|
|
NM_001267550.2(TTN):c.90135dup (p.Ser30046fs)
|
|
|
NM_001267550.2(TTN):c.90152G>A (p.Trp30051Ter)
|
|
|
NM_001267550.2(TTN):c.90195T>A (p.Tyr30065Ter)
|
rs920201335
|
|
NM_001267550.2(TTN):c.90208_90209insSVAelement
|
|
|
NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter)
|
rs786205538
|
|
NM_001267550.2(TTN):c.90231G>A (p.Trp30077Ter)
|
rs2154151450
|
|
NM_001267550.2(TTN):c.90249del (p.Ser30083fs)
|
rs2154151435
|
|
NM_001267550.2(TTN):c.90306_90307del (p.Arg30102fs)
|
rs2154151379
|
|
NM_001267550.2(TTN):c.90358del (p.Ile30120fs)
|
rs1699849996
|
|
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)
|
rs1553539995
|
|
NM_001267550.2(TTN):c.90388G>T (p.Glu30130Ter)
|
rs2154151318
|
|
NM_001267550.2(TTN):c.90415_90421dup (p.Val30141fs)
|
rs1699828609
|
|
NM_001267550.2(TTN):c.90418C>T (p.Gln30140Ter)
|
rs2154151302
|
|
NM_001267550.2(TTN):c.90486_90489del (p.Ile30163fs)
|
rs2154151260
|
|
NM_001267550.2(TTN):c.90495G>A (p.Trp30165Ter)
|
|
|
NM_001267550.2(TTN):c.90587del (p.Lys30196fs)
|
rs397517749
|
|
NM_001267550.2(TTN):c.90587dup (p.Glu30197fs)
|
|
|
NM_001267550.2(TTN):c.90594dup (p.Gly30199fs)
|
rs1553539686
|
|
NM_001267550.2(TTN):c.90605dup (p.Tyr30202Ter)
|
rs2154151177
|
|
NM_001267550.2(TTN):c.90623dup (p.Asn30208fs)
|
rs1553539620
|
|
NM_001267550.2(TTN):c.90628del (p.Val30210fs)
|
rs2154151163
|
|
NM_001267550.2(TTN):c.90653_90654del (p.Thr30218fs)
|
rs794729363
|
|
NM_001267550.2(TTN):c.90657del (p.Ile30220fs)
|
|
|
NM_001267550.2(TTN):c.90696del (p.Arg30233fs)
|
rs1699711208
|
|
NM_001267550.2(TTN):c.90699del (p.Phe30234fs)
|
rs2154151080
|
|
NM_001267550.2(TTN):c.90702del (p.Phe30234fs)
|
|
|
NM_001267550.2(TTN):c.90737G>A (p.Trp30246Ter)
|
rs2154151058
|
|
NM_001267550.2(TTN):c.90739del (p.Asp30247fs)
|
|
|
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter)
|
rs1060500495
|
|
NM_001267550.2(TTN):c.90841A>T (p.Arg30281Ter)
|
|
|
NM_001267550.2(TTN):c.90844del (p.Thr30282fs)
|
rs2154150991
|
|
NM_001267550.2(TTN):c.90883dup (p.Tyr30295fs)
|
rs1699641688
|
|
NM_001267550.2(TTN):c.90910A>T (p.Arg30304Ter)
|
rs773538148
|
|
NM_001267550.2(TTN):c.90914dup (p.Tyr30305Ter)
|
|
|
NM_001267550.2(TTN):c.90915C>G (p.Tyr30305Ter)
|
|
|
NM_001267550.2(TTN):c.90994_90997dup (p.Ile30333fs)
|
rs1559200975
|
|
NM_001267550.2(TTN):c.91025C>A (p.Ser30342Ter)
|
rs2154150847
|
|
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs)
|
rs769422187
|
|
NM_001267550.2(TTN):c.91101_91102dup (p.Ser30368fs)
|
|
|
NM_001267550.2(TTN):c.91192del (p.Arg30398fs)
|
|
|
NM_001267550.2(TTN):c.91270+1G>A
|
rs2154150675
|
|
NM_001267550.2(TTN):c.91312del (p.Thr30438fs)
|
|
|
NM_001267550.2(TTN):c.91343_91344insA (p.Arg30448_Asp30449insTer)
|
rs2154150232
|
|
NM_001267550.2(TTN):c.91445_91446del (p.Thr30482fs)
|
rs1699247877
|
|
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter)
|
rs727504646
|
|
NM_001267550.2(TTN):c.91551_91552del (p.Arg30518_Asp30519insTer)
|
|
|
NM_001267550.2(TTN):c.91564+2T>C
|
rs1699208458
|
|
NM_001267550.2(TTN):c.91589del (p.Pro30530fs)
|
|
|
NM_001267550.2(TTN):c.91655del (p.Gly30552fs)
|
rs1698781465
|
|
NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter)
|
rs1553536305
|
|
NM_001267550.2(TTN):c.91678_91685dup (p.Lys30562fs)
|
rs2154148938
|
|
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)
|
rs779129892
|
|
NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600fs)
|
rs886042502
|
|
NM_001267550.2(TTN):c.9189_9190del (p.His3063_Ile3064insTer)
|
|
|
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)
|
rs1698600051
|
|
NM_001267550.2(TTN):c.91965C>A (p.Tyr30655Ter)
|
rs1060500402
|
|
NM_001267550.2(TTN):c.91977del (p.Lys30659fs)
|
|
|
NM_001267550.2(TTN):c.91993del (p.Ala30666fs)
|
|
|
NM_001267550.2(TTN):c.92017A>T (p.Lys30673Ter)
|
rs2154148429
|
|
NM_001267550.2(TTN):c.92049del (p.Lys30683fs)
|
|
|
NM_001267550.2(TTN):c.92063del (p.Asn30688fs)
|
|
|
NM_001267550.2(TTN):c.92079dup (p.Val30694fs)
|
rs2154148371
|
|
NM_001267550.2(TTN):c.92146C>T (p.Gln30716Ter)
|
|
|
NM_001267550.2(TTN):c.92152+1G>C
|
|
|
NM_001267550.2(TTN):c.92169del (p.Gly30724fs)
|
|
|
NM_001267550.2(TTN):c.92236_92237del (p.Asp30746fs)
|
rs2154148134
|
|
NM_001267550.2(TTN):c.92284_92288del (p.Lys30762fs)
|
rs756367933
|
|
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs)
|
rs756367933
|
|
NM_001267550.2(TTN):c.92294del (p.Arg30765fs)
|
|
|
NM_001267550.2(TTN):c.92298G>A (p.Trp30766Ter)
|
|
|
NM_001267550.2(TTN):c.92498del (p.Thr30833fs)
|
rs2154147918
|
|
NM_001267550.2(TTN):c.92504del (p.Lys30835fs)
|
rs2154147910
|
|
NM_001267550.2(TTN):c.92519T>G (p.Leu30840Ter)
|
|
|
NM_001267550.2(TTN):c.92526G>A (p.Trp30842Ter)
|
rs2154147893
|
|
NM_001267550.2(TTN):c.92569_92570del (p.Ile30857fs)
|
rs2154147864
|
|
NM_001267550.2(TTN):c.92603G>A (p.Trp30868Ter)
|
rs2154147843
|
|
NM_001267550.2(TTN):c.92604G>A (p.Trp30868Ter)
|
|
|
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs)
|
rs886039145
|
|
NM_001267550.2(TTN):c.92652_92659del (p.Asp30885fs)
|
rs1559175090
|
|
NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter)
|
rs1305222903
|
|
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)
|
rs869312065
|
|
NM_001267550.2(TTN):c.92688_92691dup (p.Ala30898Ter)
|
|
|
NM_001267550.2(TTN):c.92795_92798del (p.Lys30932fs)
|
|
|
NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter)
|
rs1553532356
|
|
NM_001267550.2(TTN):c.92884_92887del (p.Pro30962fs)
|
rs1698201730
|
|
NM_001267550.2(TTN):c.92962A>T (p.Arg30988Ter)
|
rs1698169393
|
|
NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter)
|
rs2154147529
|
|
NM_001267550.2(TTN):c.93050del (p.Pro31017fs)
|
|
|
NM_001267550.2(TTN):c.93091G>T (p.Gly31031Ter)
|
rs907669905
|
|
NM_001267550.2(TTN):c.93106dup (p.Met31036fs)
|
rs2154147449
|
|
NM_001267550.2(TTN):c.93119dup (p.Leu31041fs)
|
|
|
NM_001267550.2(TTN):c.93145_93146del (p.His31049fs)
|
|
|
NM_001267550.2(TTN):c.93153T>G (p.Tyr31051Ter)
|
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
NM_001267550.2(TTN):c.93181del (p.Arg31061fs)
|
rs2154147379
|
|
NM_001267550.2(TTN):c.93288T>A (p.Tyr31096Ter)
|
|
|
NM_001267550.2(TTN):c.93337C>T (p.Gln31113Ter)
|
rs1454572839
|
|
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)
|
rs886044536
|
|
NM_001267550.2(TTN):c.93541G>T (p.Glu31181Ter)
|
rs1243301263
|
|
NM_001267550.2(TTN):c.93592del (p.Arg31198fs)
|
|
|
NM_001267550.2(TTN):c.93641del (p.Thr31214fs)
|
|
|
NM_001267550.2(TTN):c.93735del (p.Lys31246_Val31247insTer)
|
|
|
NM_001267550.2(TTN):c.93735dup (p.Lys31246fs)
|
|
|
NM_001267550.2(TTN):c.93754del (p.Glu31252fs)
|
|
|
NM_001267550.2(TTN):c.93764_93765del (p.Arg31255fs)
|
|
|
NM_001267550.2(TTN):c.93766del (p.Glu31258fs)
|
|
|
NM_001267550.2(TTN):c.93772G>T (p.Glu31258Ter)
|
|
|
NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter)
|
rs1553528016
|
|
NM_001267550.2(TTN):c.93784_93785insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGACAGATCGAG (p.Arg31261_Val31262insAlaProSerProValSerLeuSerLeuSerArgLeuProLeuProLeuProSerProSerProSerProValSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluThrAspArg)
|
rs2154146971
|
|
NM_001267550.2(TTN):c.93853A>T (p.Arg31285Ter)
|
|
|
NM_001267550.2(TTN):c.93897del (p.Phe31299fs)
|
rs397517758
|
|
NM_001267550.2(TTN):c.93956C>A (p.Ser31319Ter)
|
rs2154146843
|
|
NM_001267550.2(TTN):c.94032C>A (p.Tyr31344Ter)
|
|
|
NM_001267550.2(TTN):c.94067G>A (p.Trp31356Ter)
|
|
|
NM_001267550.2(TTN):c.94128del (p.Lys31375_Tyr31376insTer)
|
rs2154146720
|
|
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)
|
rs727503547
|
|
NM_001267550.2(TTN):c.94220-1G>A
|
rs1553525592
|
|
NM_001267550.2(TTN):c.94220-2A>G
|
|
|
NM_001267550.2(TTN):c.94263del (p.Ala31422fs)
|
|
|
NM_001267550.2(TTN):c.94266dup (p.Asn31423fs)
|
|
|
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)
|
rs1697595705
|
|
NM_001267550.2(TTN):c.94331G>A (p.Trp31444Ter)
|
rs1429264347
|
|
NM_001267550.2(TTN):c.94332G>A (p.Trp31444Ter)
|
rs1697578690
|
|
NM_001267550.2(TTN):c.94365G>A (p.Trp31455Ter)
|
|
|
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter)
|
rs1553524697
|
|
NM_001267550.2(TTN):c.94407del (p.Lys31469_Val31470insTer)
|
|
|
NM_001267550.2(TTN):c.94418T>A (p.Leu31473Ter)
|
|
|
NM_001267550.2(TTN):c.94437T>G (p.Tyr31479Ter)
|
|
|
NM_001267550.2(TTN):c.94448del (p.Thr31483fs)
|
rs2154146389
|
|
NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter)
|
|
|
NM_001267550.2(TTN):c.94581G>A (p.Trp31527Ter)
|
|
|
NM_001267550.2(TTN):c.94747_94748del (p.Arg31583fs)
|
rs1697311515
|
|
NM_001267550.2(TTN):c.94752_94753dup (p.Leu31585fs)
|
|
|
NM_001267550.2(TTN):c.94788del (p.Ser31597fs)
|
|
|
NM_001267550.2(TTN):c.94805_94806del (p.Pro31602fs)
|
|
|
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter)
|
rs1060500435
|
|
NM_001267550.2(TTN):c.94827C>G (p.Tyr31609Ter)
|
|
|
NM_001267550.2(TTN):c.94903_94904del (p.Leu31635fs)
|
|
|
NM_001267550.2(TTN):c.94939del (p.Ile31647fs)
|
rs1553521978
|
|
NM_001267550.2(TTN):c.94991T>A (p.Leu31664Ter)
|
rs2154145831
|
|
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)
|
rs1322596650
|
|
NM_001267550.2(TTN):c.95023_95024del (p.Ile31675fs)
|
rs1697105934
|
|
NM_001267550.2(TTN):c.95051_95070del (p.Gly31684fs)
|
rs2154145769
|
|
NM_001267550.2(TTN):c.95055del (p.Lys31685fs)
|
rs1174834630
|
|
NM_001267550.2(TTN):c.95062_95063del (p.Leu31688fs)
|
rs2154145784
|
|
NM_001267550.2(TTN):c.95063T>A (p.Leu31688Ter)
|
rs794729538
|
|
NM_001267550.2(TTN):c.95063T>G (p.Leu31688Ter)
|
rs794729538
|
|
NM_001267550.2(TTN):c.95075dup (p.Asn31692fs)
|
rs1697077852
|
|
NM_001267550.2(TTN):c.95119+1G>C
|
|
|
NM_001267550.2(TTN):c.95120-2A>G
|
rs2154145628
|
|
NM_001267550.2(TTN):c.95163_95176del (p.Gln31722fs)
|
|
|
NM_001267550.2(TTN):c.95164C>T (p.Gln31722Ter)
|
rs2154145603
|
|
NM_001267550.2(TTN):c.95200del (p.Glu31734fs)
|
|
|
NM_001267550.2(TTN):c.95246del (p.Glu31749fs)
|
rs1696922090
|
|
NM_001267550.2(TTN):c.95264G>A (p.Trp31755Ter)
|
rs1696912764
|
|
NM_001267550.2(TTN):c.95266del (p.Trp31755_Val31756insTer)
|
rs2154145523
|
|
NM_001267550.2(TTN):c.95289_95298del (p.Thr31764fs)
|
rs1575442120
|
|
NM_001267550.2(TTN):c.95370dup (p.Gly31791fs)
|
rs2154145442
|
|
NM_001267550.2(TTN):c.95415_95416+2del
|
rs769407533
|
|
NM_001267550.2(TTN):c.95446G>T (p.Glu31816Ter)
|
|
|
NM_001267550.2(TTN):c.95469dup (p.Ile31824fs)
|
rs1553520581
|
|
NM_001267550.2(TTN):c.95490dup (p.Pro31831fs)
|
rs2154145209
|
|
NM_001267550.2(TTN):c.9553G>T (p.Glu3185Ter)
|
|
|
NM_001267550.2(TTN):c.95576_95577del (p.Lys31859fs)
|
|
|
NM_001267550.2(TTN):c.95669del (p.Gly31890fs)
|
rs2154145062
|
|
NM_001267550.2(TTN):c.95722+1G>C
|
|
|
NM_001267550.2(TTN):c.95723-2A>C
|
rs2154144335
|
|
NM_001267550.2(TTN):c.95735del (p.Pro31912fs)
|
rs1553519454
|
|
NM_001267550.2(TTN):c.95770del (p.His31924fs)
|
rs794729364
|
|
NM_001267550.2(TTN):c.95772_95773del (p.His31924fs)
|
rs1060500544
|
|
NM_001267550.2(TTN):c.95802del (p.Met31934fs)
|
|
|
NM_001267550.2(TTN):c.95805C>A (p.Tyr31935Ter)
|
rs375076970
|
|
NM_001267550.2(TTN):c.95806del (p.Asp31936fs)
|
|
|
NM_001267550.2(TTN):c.95829_95830insG (p.Tyr31944fs)
|
|
|
NM_001267550.2(TTN):c.95845C>T (p.Gln31949Ter)
|
rs2154144237
|
|
NM_001267550.2(TTN):c.95848G>T (p.Glu31950Ter)
|
|
|
NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter)
|
rs2154144218
|
|
NM_001267550.2(TTN):c.95992G>T (p.Glu31998Ter)
|
rs775585263
|
|
NM_001267550.2(TTN):c.95992del (p.Glu31998fs)
|
rs2154144138
|
|
NM_001267550.2(TTN):c.96069dup (p.Val32024fs)
|
rs878854432
|
|
NM_001267550.2(TTN):c.96105_96106insACAGGAG (p.Val32036fs)
|
rs1695870572
|
|
NM_001267550.2(TTN):c.96110_96113del (p.Ser32037fs)
|
|
|
NM_001267550.2(TTN):c.96158_96177dup (p.Ile32060fs)
|
|
|
NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs)
|
rs1553518529
|
|
NM_001267550.2(TTN):c.96260_96279dup (p.Lys32094fs)
|
rs2154143867
|
|
NM_001267550.2(TTN):c.96303dup (p.Val32102fs)
|
rs1695788718
|
|
NM_001267550.2(TTN):c.9630del (p.Arg3211fs)
|
|
|
NM_001267550.2(TTN):c.96377G>A (p.Trp32126Ter)
|
rs1695634838
|
|
NM_001267550.2(TTN):c.96420C>A (p.Tyr32140Ter)
|
rs1009407656
|
|
NM_001267550.2(TTN):c.96525C>G (p.Tyr32175Ter)
|
|
|
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)
|
rs2154143423
|
|
NM_001267550.2(TTN):c.96679del (p.Leu32227fs)
|
rs2154143419
|
|
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs)
|
rs2154143418
|
|
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter)
|
rs781171206
|
|
NM_001267550.2(TTN):c.96731del (p.Ala32244fs)
|
rs2154143380
|
|
NM_001267550.2(TTN):c.96742A>T (p.Arg32248Ter)
|
|
|
NM_001267550.2(TTN):c.96746G>A (p.Trp32249Ter)
|
rs2154143363
|
|
NM_001267550.2(TTN):c.96824_96831del (p.Leu32274_Phe32275insTer)
|
rs2154143307
|
|
NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)
|
|
|
NM_001267550.2(TTN):c.96849del (p.Gly32284fs)
|
rs2154143293
|
|
NM_001267550.2(TTN):c.96870_96871del (p.Glu32290fs)
|
rs1695435412
|
|
NM_001267550.2(TTN):c.96904+1G>A
|
rs1553517092
|
|
NM_001267550.2(TTN):c.96905-1G>A
|
|
|
NM_001267550.2(TTN):c.96909dup (p.Pro32304fs)
|
rs1553516759
|
|
NM_001267550.2(TTN):c.96937C>T (p.Gln32313Ter)
|
rs1695289576
|
|
NM_001267550.2(TTN):c.96944_96945dup (p.Ile32316fs)
|
|
|
NM_001267550.2(TTN):c.96997del (p.Arg32333fs)
|
rs1695259740
|
|
NM_001267550.2(TTN):c.97006_97021del (p.Pro32336fs)
|
rs2154142958
|
|
NM_001267550.2(TTN):c.97011del (p.Ala32338fs)
|
|
|
NM_001267550.2(TTN):c.97025_97035del (p.Phe32341_Phe32342insTer)
|
|
|
NM_001267550.2(TTN):c.9703+1G>A
|
|
|
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs)
|
rs1064793419
|
|
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs)
|
rs748382770
|
|
NM_001267550.2(TTN):c.97134del (p.Glu32380fs)
|
|
|
NM_001267550.2(TTN):c.97179_97183del (p.Lys32393fs)
|
|
|
NM_001267550.2(TTN):c.97192+1G>C
|
|
|
NM_001267550.2(TTN):c.97193-2A>C
|
|
|
NM_001267550.2(TTN):c.97263G>A (p.Trp32421Ter)
|
rs2154142586
|
|
NM_001267550.2(TTN):c.97294_97295del (p.Leu32432fs)
|
rs2154142563
|
|
NM_001267550.2(TTN):c.97312G>T (p.Glu32438Ter)
|
|
|
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter)
|
rs767837705
|
|
NM_001267550.2(TTN):c.97358C>G (p.Ser32453Ter)
|
|
|
NM_001267550.2(TTN):c.97395del (p.Glu32466fs)
|
rs1553515473
|
|
NM_001267550.2(TTN):c.97405_97408dup (p.Tyr32470Ter)
|
|
|
NM_001267550.2(TTN):c.97451_97452del (p.Ser32484fs)
|
rs878854433
|
|
NM_001267550.2(TTN):c.97470_97492+248del
|
rs1559108136
|
|
NM_001267550.2(TTN):c.97475_97476del (p.Glu32492fs)
|
rs2154142418
|
|
NM_001267550.2(TTN):c.97506_97507insTT (p.Pro32503fs)
|
rs1694530382
|
|
NM_001267550.2(TTN):c.97520del (p.Gln32507fs)
|
rs1694523513
|
|
NM_001267550.2(TTN):c.97523_97527del (p.Ile32508fs)
|
rs794729395
|
|
NM_001267550.2(TTN):c.97555dup (p.Thr32519fs)
|
|
|
NM_001267550.2(TTN):c.97588dup (p.Gln32530fs)
|
rs2154141656
|
|
NM_001267550.2(TTN):c.97629del (p.Asp32544fs)
|
|
|
NM_001267550.2(TTN):c.97633C>T (p.Arg32545Ter)
|
rs780653613
|
|
NM_001267550.2(TTN):c.97637G>A (p.Trp32546Ter)
|
|
|
NM_001267550.2(TTN):c.97647_97663dup (p.Thr32555delinsLysIleLysTyrLeuTer)
|
rs2154141588
|
|
NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter)
|
rs1301441435
|
|
NM_001267550.2(TTN):c.97855_97871dup (p.Glu32625fs)
|
|
|
NM_001267550.2(TTN):c.97927del (p.Asp32643fs)
|
|
|
NM_001267550.2(TTN):c.97950dup (p.Asn32651Ter)
|
rs2154140546
|
|
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
|
|
|
NM_001267550.2(TTN):c.98019_98031dup (p.Cys32678fs)
|
|
|
NM_001267550.2(TTN):c.98072del (p.Gly32691fs)
|
|
|
NM_001267550.2(TTN):c.98077_98080del (p.Val32693fs)
|
|
|
NM_001267550.2(TTN):c.98098+1G>T
|
|
|
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)
|
rs727504679
|
|
NM_001267550.2(TTN):c.98136del (p.Gly32713fs)
|
rs2154140292
|
|
NM_001267550.2(TTN):c.98164del (p.Ile32722fs)
|
|
|
NM_001267550.2(TTN):c.98168_98169del (p.Arg32723fs)
|
rs2154140269
|
|
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs)
|
rs1275153634
|
|
NM_001267550.2(TTN):c.98299del (p.Arg32767fs)
|
rs772061676
|
|
NM_001267550.2(TTN):c.98324del (p.Leu32775fs)
|
rs2154140145
|
|
NM_001267550.2(TTN):c.98421_98422insGG (p.Ile32808fs)
|
rs2154140080
|
|
NM_001267550.2(TTN):c.98432_98433dup (p.Ser32812fs)
|
|
|
NM_001267550.2(TTN):c.98450G>A (p.Trp32817Ter)
|
rs2154140054
|
|
NM_001267550.2(TTN):c.98500del (p.Glu32834fs)
|
rs2154140017
|
|
NM_001267550.2(TTN):c.98515_98568del (p.Pro32839_Val32856del)
|
rs1693333622
|
|
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter)
|
rs727504550
|
|
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter)
|
rs553821887
|
|
NM_001267550.2(TTN):c.98623C>T (p.Gln32875Ter)
|
rs1693309648
|
|
NM_001267550.2(TTN):c.98625_98634del (p.Phe32876fs)
|
rs2154139897
|
|
NM_001267550.2(TTN):c.98627_98628del (p.Phe32876fs)
|
|
|
NM_001267550.2(TTN):c.98637del (p.Ser32879fs)
|
|
|
NM_001267550.2(TTN):c.98660del (p.Pro32887fs)
|
rs1553509300
|
|
NM_001267550.2(TTN):c.98774del (p.Gly32925fs)
|
rs2154139656
|
|
NM_001267550.2(TTN):c.98803G>T (p.Glu32935Ter)
|
rs1407053984
|
|
NM_001267550.2(TTN):c.98810_98811del (p.Lys32937fs)
|
|
|
NM_001267550.2(TTN):c.98989+1G>A
|
rs112240298
|
|
NM_001267550.2(TTN):c.98990-2A>C
|
rs2154139399
|
|
NM_001267550.2(TTN):c.98992A>T (p.Lys32998Ter)
|
|
|
NM_001267550.2(TTN):c.99033del (p.Asp33013fs)
|
|
|
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter)
|
rs771511344
|
|
NM_001267550.2(TTN):c.99038_99041dup (p.Ser33014delinsArgTer)
|
|
|
NM_001267550.2(TTN):c.99041del (p.Ser33014fs)
|
rs2154139357
|
|
NM_001267550.2(TTN):c.99063del (p.Lys33021fs)
|
rs1445687820
|
|
NM_001267550.2(TTN):c.99113_99114del (p.Arg33038fs)
|
rs2154139316
|
|
NM_001267550.2(TTN):c.99156dup (p.Ile33053fs)
|
rs2154139263
|
|
NM_001267550.2(TTN):c.99181G>T (p.Gly33061Ter)
|
|
|
NM_001267550.2(TTN):c.99184_99185dup (p.Leu33063fs)
|
rs794729396
|
|
NM_001267550.2(TTN):c.99256A>T (p.Arg33086Ter)
|
|
|
NM_001267550.2(TTN):c.99289+1G>C
|
rs2154139165
|
|
NM_001267550.2(TTN):c.99315del (p.Glu33106fs)
|
|
|
NM_001267550.2(TTN):c.99362C>G (p.Ser33121Ter)
|
|
|
NM_001267550.2(TTN):c.99366C>A (p.Cys33122Ter)
|
|
|
NM_001267550.2(TTN):c.99405_99406del (p.Tyr33135_Arg33136delinsTer)
|
|
|
NM_001267550.2(TTN):c.99463dup (p.Thr33155fs)
|
|
|
NM_001267550.2(TTN):c.99487G>T (p.Glu33163Ter)
|
|
|
NM_001267550.2(TTN):c.99493C>T (p.Gln33165Ter)
|
|
|
NM_001267550.2(TTN):c.99498del (p.Asp33167fs)
|
|
|
NM_001267550.2(TTN):c.99583C>T (p.Gln33195Ter)
|
|
|
NM_001267550.2(TTN):c.99588_99595del (p.Phe33196fs)
|
rs1553504889
|
|
NM_001267550.2(TTN):c.99610G>T (p.Glu33204Ter)
|
rs1490008675
|
|
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter)
|
rs794727539
|
|
NM_001267550.2(TTN):c.99783dup (p.Lys33262Ter)
|
rs1575324979
|
|
NM_001267550.2(TTN):c.99786_99790del (p.Thr33263fs)
|
rs2154138232
|
|
NM_001267550.2(TTN):c.99797_99800dup (p.Tyr33268fs)
|
|
|
NM_001267550.2(TTN):c.99853_99854insGGGAAATACAAATTCCAGCTCAGCAATGTTTTTGGAACAGTTGATGCCATCCTTGATG (p.Val33285delinsGlyGluIleGlnIleProAlaGlnGlnCysPheTrpAsnSerTer)
|
|
|
NM_001267550.2(TTN):c.99865+1G>T
|
|
|
NM_001267550.2(TTN):c.99874del (p.Asp33292fs)
|
|
|
NM_001267550.2(TTN):c.9988+2T>C
|
rs1298389127
|
|
NM_001267550.2(TTN):c.99906_99916del (p.Leu33304fs)
|
|
|
NM_001267550.2(TTN):c.99935G>A (p.Trp33312Ter)
|
rs2154138051
|
|
NM_001267550.2(TTN):c.[32471-1G>A];[55732+5G>C]
|
|
|
NM_001267550.2(TTN):c.[62674G>A];[68984A>C]
|
|
|
NM_001267727.2(ARSG):c.982+1G>C
|
|
|
NM_001271838.2(RSRC1):c.332del (p.Arg111fs)
|
|
|
NM_001277269.2(OTOG):c.7517-5_7518dup
|
rs1295062471
|
|
NM_001278116.2(L1CAM):c.215A>C (p.Asp72Ala)
|
|
|
NM_001278293.3(ARL6):c.123+1G>A
|
|
|
NM_001278293.3(ARL6):c.254+1G>A
|
|
|
NM_001278293.3(ARL6):c.255-1_256del
|
|
|
NM_001278293.3(ARL6):c.350-13_350-2del
|
rs1576465252
|
|
NM_001278293.3(ARL6):c.350-2A>C
|
|
|
NM_001278293.3(ARL6):c.479+1G>A
|
rs1324418374
|
|
NM_001283009.2(RTEL1):c.1038-2A>G
|
|
|
NM_001283009.2(RTEL1):c.1135+1G>A
|
rs1555903332
|
|
NM_001283009.2(RTEL1):c.1191+1G>A
|
rs2090461817
|
|
NM_001283009.2(RTEL1):c.1191+1G>C
|
rs2090461817
|
|
NM_001283009.2(RTEL1):c.1192-2A>G
|
rs2145411185
|
|
NM_001283009.2(RTEL1):c.1228_1266+39del
|
rs2090573767
|
|
NM_001283009.2(RTEL1):c.1236_1266+47del
|
rs1568703403
|
|
NM_001283009.2(RTEL1):c.1249dup (p.Ala417fs)
|
|
|
NM_001283009.2(RTEL1):c.1255del (p.Gln419fs)
|
|
|
NM_001283009.2(RTEL1):c.1264A>T (p.Lys422Ter)
|
|
|
NM_001283009.2(RTEL1):c.1266+3_1266+80del
|
rs2090574236
|
|
NM_001283009.2(RTEL1):c.1348+1G>T
|
rs2145412626
|
|
NM_001283009.2(RTEL1):c.1458del (p.Ser487fs)
|
rs2090629495
|
|
NM_001283009.2(RTEL1):c.1482-1G>A
|
rs863225129
|
|
NM_001283009.2(RTEL1):c.1595+1G>A
|
rs2145421181
|
|
NM_001283009.2(RTEL1):c.1595_1595+8del
|
|
|
NM_001283009.2(RTEL1):c.1596-1G>A
|
rs1555811386
|
|
NM_001283009.2(RTEL1):c.1596-1_1596delinsAA
|
rs1601163764
|
|
NM_001283009.2(RTEL1):c.1637-24_1637del
|
|
|
NM_001283009.2(RTEL1):c.1921G>A (p.Val641Met)
|
|
|
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs)
|
rs1555811742
|
|
NM_001283009.2(RTEL1):c.2021dup (p.Gln675fs)
|
rs1263776141
|
|
NM_001283009.2(RTEL1):c.2026-2A>G
|
|
|
NM_001283009.2(RTEL1):c.2057dup (p.Ala687fs)
|
|
|
NM_001283009.2(RTEL1):c.2141+1G>T
|
|
|
NM_001283009.2(RTEL1):c.2141+5G>A
|
rs398123050
|
|
NM_001283009.2(RTEL1):c.2142-1G>C
|
|
|
NM_001283009.2(RTEL1):c.2142-1G>T
|
|
|
NM_001283009.2(RTEL1):c.2180G>A (p.Trp727Ter)
|
|
|
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter)
|
rs2145430878
|
|
NM_001283009.2(RTEL1):c.2239_2251del (p.Gln747fs)
|
|
|
NM_001283009.2(RTEL1):c.2248del (p.Arg750fs)
|
|
|
NM_001283009.2(RTEL1):c.2265+1G>T
|
rs2145431062
|
|
NM_001283009.2(RTEL1):c.2265+2T>A
|
rs1555811966
|
|
NM_001283009.2(RTEL1):c.2266-2A>G
|
|
|
NM_001283009.2(RTEL1):c.2364dup (p.Ala789fs)
|
|
|
NM_001283009.2(RTEL1):c.2413+1G>A
|
|
|
NM_001283009.2(RTEL1):c.2413+1G>C
|
rs776744306
|
|
NM_001283009.2(RTEL1):c.2413+1G>T
|
|
|
NM_001283009.2(RTEL1):c.2414-2A>G
|
rs1555812178
|
|
NM_001283009.2(RTEL1):c.2527C>T (p.Gln843Ter)
|
|
|
NM_001283009.2(RTEL1):c.2533del (p.Ala845fs)
|
rs1555812228
|
|
NM_001283009.2(RTEL1):c.2557-1G>A
|
|
|
NM_001283009.2(RTEL1):c.2557-2A>G
|
|
|
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs)
|
rs752833281
|
|
NM_001283009.2(RTEL1):c.2608G>T (p.Glu870Ter)
|
|
|
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs)
|
rs1555812480
|
|
NM_001283009.2(RTEL1):c.2653-1G>A
|
|
|
NM_001283009.2(RTEL1):c.2653-2A>C
|
rs1555812834
|
|
NM_001283009.2(RTEL1):c.2653-3_2653-1del
|
|
|
NM_001283009.2(RTEL1):c.2674C>T (p.Gln892Ter)
|
|
|
NM_001283009.2(RTEL1):c.2680del (p.Asp894fs)
|
|
|
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter)
|
rs866637461
|
|
NM_001283009.2(RTEL1):c.2733del (p.Phe912fs)
|
|
|
NM_001283009.2(RTEL1):c.276del (p.Ala93fs)
|
|
|
NM_001283009.2(RTEL1):c.2782_2992+170del
|
rs2090789401
|
|
NM_001283009.2(RTEL1):c.2807_2808delinsA (p.Gly936fs)
|
|
|
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs)
|
rs1449687529
|
|
NM_001283009.2(RTEL1):c.2817_2821dup (p.Glu941fs)
|
|
|
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter)
|
rs906116592
|
|
NM_001283009.2(RTEL1):c.2851+1G>A
|
rs1421904176
|
|
NM_001283009.2(RTEL1):c.2851+1G>T
|
rs1421904176
|
|
NM_001283009.2(RTEL1):c.2852-1G>C
|
rs2145448526
|
|
NM_001283009.2(RTEL1):c.2858del (p.Tyr953fs)
|
rs1555813123
|
|
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter)
|
rs1555813144
|
|
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu)
|
rs1470145133
|
|
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs)
|
rs1285014916
|
|
NM_001283009.2(RTEL1):c.2992+1G>A
|
rs1370553261
|
|
NM_001283009.2(RTEL1):c.2992+1G>C
|
|
|
NM_001283009.2(RTEL1):c.2992+2T>A
|
|
|
NM_001283009.2(RTEL1):c.2992+492_3068del
|
|
|
NM_001283009.2(RTEL1):c.301+1G>A
|
rs2146149228
|
|
NM_001283009.2(RTEL1):c.302-2A>G
|
|
|
NM_001283009.2(RTEL1):c.302-8_303del
|
rs2090026700
|
|
NM_001283009.2(RTEL1):c.3104dup (p.Thr1036fs)
|
rs1555814044
|
|
NM_001283009.2(RTEL1):c.3109+1G>T
|
|
|
NM_001283009.2(RTEL1):c.3109+2T>C
|
|
|
NM_001283009.2(RTEL1):c.3109+2T>G
|
|
|
NM_001283009.2(RTEL1):c.3110-2A>C
|
rs377461417
|
|
NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter)
|
rs1415449695
|
|
NM_001283009.2(RTEL1):c.3130del (p.Gln1044fs)
|
|
|
NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs)
|
rs1555814207
|
|
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter)
|
rs2090929102
|
|
NM_001283009.2(RTEL1):c.3265GAC[2] (p.Asp1091del)
|
rs1568724567
|
|
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs)
|
rs1555814334
|
|
NM_001283009.2(RTEL1):c.3343+1G>C
|
rs2145476311
|
|
NM_001283009.2(RTEL1):c.3343+1G>T
|
rs2145476311
|
|
NM_001283009.2(RTEL1):c.3344-2A>G
|
rs980695424
|
|
NM_001283009.2(RTEL1):c.3499+1G>A
|
|
|
NM_001283009.2(RTEL1):c.3499+2T>C
|
|
|
NM_001283009.2(RTEL1):c.3500-1G>A
|
rs1205986855
|
|
NM_001283009.2(RTEL1):c.3578del (p.Val1193fs)
|
rs2145479688
|
|
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs)
|
rs1363658406
|
|
NM_001283009.2(RTEL1):c.3787del (p.Gln1263fs)
|
rs2145480981
|
|
NM_001283009.2(RTEL1):c.395+1G>T
|
|
|
NM_001283009.2(RTEL1):c.396-2A>G
|
|
|
NM_001283009.2(RTEL1):c.396-59del
|
|
|
NM_001283009.2(RTEL1):c.396-74A>C
|
rs1555899773
|
|
NM_001283009.2(RTEL1):c.477+1G>A
|
|
|
NM_001283009.2(RTEL1):c.478-2A>G
|
|
|
NM_001283009.2(RTEL1):c.525C>A (p.Tyr175Ter)
|
rs1161373315
|
|
NM_001283009.2(RTEL1):c.614+1G>C
|
|
|
NM_001283009.2(RTEL1):c.630C>A (p.Tyr210Ter)
|
rs1555901000
|
|
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)
|
rs780546933
|
|
NM_001283009.2(RTEL1):c.820_827del (p.Ser274fs)
|
|
|
NM_001283009.2(RTEL1):c.897del (p.Phe299fs)
|
rs1555901832
|
|
NM_001283009.2(RTEL1):c.919+1G>T
|
|
|
NM_001283009.2(RTEL1):c.919+2T>C
|
|
|
NM_001283009.2(RTEL1):c.984del (p.Ile329fs)
|
rs2146211234
|
|
NM_001286445.3(RIPOR2):c.1498C>T (p.Arg500Ter)
|
|
|
NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys)
|
rs2142378398
|
|
NM_001287.6(CLCN7):c.1125C>G (p.Ile375Met)
|
rs1410701535
|
|
NM_001287.6(CLCN7):c.1304C>T (p.Ser435Leu)
|
|
|
NM_001287.6(CLCN7):c.1448-2A>G
|
|
|
NM_001287.6(CLCN7):c.1638del (p.Lys546fs)
|
rs2142368980
|
|
NM_001287.6(CLCN7):c.1682G>A (p.Arg561Gln)
|
rs757788894
|
|
NM_001287.6(CLCN7):c.1714del (p.Glu572fs)
|
|
|
NM_001287.6(CLCN7):c.2332G>T (p.Val778Phe)
|
rs1172932679
|
|
NM_001287.6(CLCN7):c.839G>A (p.Arg280His)
|
rs1163577336
|
|
NM_001292063.2(OTOG):c.2561+1del
|
rs1852533572
|
|
NM_001292063.2(OTOG):c.5281_5284dup (p.Ser1762Ter)
|
rs2134090994
|
|
NM_001292063.2(OTOG):c.5438T>G (p.Val1813Gly)
|
rs1853512469
|
|
NM_001292063.2(OTOG):c.5926del (p.Gln1976fs)
|
|
|
NM_001292063.2(OTOG):c.7199del (p.Cys2400fs)
|
rs1565127413
|
|
NM_001292063.2(OTOG):c.7860G>A (p.Trp2620Ter)
|
rs1565129771
|
|
NM_001292063.2(OTOG):c.8632C>T (p.Arg2878Cys)
|
|
|
NM_001292063.2(OTOG):c.880del (p.Asp294fs)
|
|
|
NM_001329943.3(KIAA0586):c.-29A>C
|
rs752709426
|
|
NM_001329943.3(KIAA0586):c.1129+1G>A
|
rs2140707466
|
|
NM_001329943.3(KIAA0586):c.1130-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.1253+1G>A
|
|
|
NM_001329943.3(KIAA0586):c.1362+2T>C
|
rs901508284
|
|
NM_001329943.3(KIAA0586):c.1884+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.200-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.2254+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.2634+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.271-1G>A
|
|
|
NM_001329943.3(KIAA0586):c.2825+1G>A
|
rs2141025675
|
|
NM_001329943.3(KIAA0586):c.2945-1G>C
|
|
|
NM_001329943.3(KIAA0586):c.3142_3144+5del
|
rs771240219
|
|
NM_001329943.3(KIAA0586):c.3144+1G>A
|
|
|
NM_001329943.3(KIAA0586):c.3144+2T>C
|
|
|
NM_001329943.3(KIAA0586):c.341-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.3859-3_3865del
|
|
|
NM_001329943.3(KIAA0586):c.3991-1G>A
|
|
|
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
|
|
|
NM_001329943.3(KIAA0586):c.807+1G>T
|
|
|
NM_001331036.3(ELF2):c.10G>A (p.Ala4Thr)
|
rs747574524
|
|
NM_001351132.2(PEX5):c.135_147+32del
|
|
|
NM_001351132.2(PEX5):c.135_147+33delinsC
|
rs2135880243
|
|
NM_001351132.2(PEX5):c.138del (p.Ser47fs)
|
|
|
NM_001351132.2(PEX5):c.147+2T>G
|
|
|
NM_001351132.2(PEX5):c.147+4A>G
|
|
|
NM_001351132.2(PEX5):c.1561-2A>G
|
rs2136254229
|
|
NM_001351132.2(PEX5):c.317-2A>G
|
rs2135903939
|
|
NM_001351132.2(PEX5):c.552-1G>A
|
rs1064793563
|
|
NM_001351132.2(PEX5):c.753+1G>A
|
|
|
NM_001351132.2(PEX5):c.753+2T>C
|
|
|
NM_001351132.2(PEX5):c.754-2A>C
|
|
|
NM_001351132.2(PEX5):c.846+1G>A
|
|
|
NM_001351132.2(PEX5):c.847-2A>G
|
|
|
NM_001351132.2(PEX5):c.847-7_861del
|
|
|
NM_001351132.2(PEX5):c.966+1G>C
|
rs2136176386
|
|
NM_001351132.2(PEX5):c.967-1G>A
|
|
|
NM_001351132.2(PEX5):c.967-1_971del
|
|
|
NM_001353108.3(CEP63):c.1835del (p.Ser611_Leu612insTer)
|
|
|
NM_001353108.3(CEP63):c.595del (p.Glu199fs)
|
rs2109591981
|
|
NM_001353108.3(CEP63):c.790-2A>G
|
|
|
NM_001354304.2(PAH):c.-95-4071_-95-313del
|
|
|
NM_001366722.1(GRIP1):c.10_13del (p.Val4fs)
|
|
|
NM_001367624.2(ZNF469):c.10332del (p.Arg3445fs)
|
rs764470052
|
|
NM_001367624.2(ZNF469):c.1081del (p.Ala361fs)
|
rs1905872842
|
|
NM_001367624.2(ZNF469):c.1586del (p.Gly529fs)
|
rs1905923050
|
|
NM_001367624.2(ZNF469):c.4112dup (p.Pro1373fs)
|
|
|
NM_001367624.2(ZNF469):c.5402del (p.Val1801fs)
|
|
|
NM_001367624.2(ZNF469):c.5613_5622del (p.Arg1871fs)
|
|
|
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs)
|
rs886044697
|
|
NM_001367624.2(ZNF469):c.7874_7877dup (p.His2626fs)
|
|
|
NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter)
|
rs1172315984
|
|
NM_001367624.2(ZNF469):c.8428del (p.Ala2810fs)
|
rs2142312393
|
|
NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter)
|
rs764139968
|
|
NM_001367624.2(ZNF469):c.9876dup (p.Ala3293fs)
|
rs1906662179
|
|
NM_001374623.1(PNPLA1):c.100G>C (p.Ala34Pro)
|
rs1182312612
|
|
NM_001374623.1(PNPLA1):c.149C>A (p.Ala50Glu)
|
rs533584507
|
|
NM_001374623.1(PNPLA1):c.158C>G (p.Ser53Trp)
|
rs1207879599
|
|
NM_001374623.1(PNPLA1):c.178G>A (p.Ala60Thr)
|
|
|
NM_001374623.1(PNPLA1):c.266C>T (p.Pro89Leu)
|
rs922934422
|
|
NM_001374623.1(PNPLA1):c.56C>G (p.Ser19Trp)
|
rs1373230987
|
|
NM_001374623.1(PNPLA1):c.737G>C (p.Arg246Pro)
|
rs746575171
|
|
NM_001374623.1(PNPLA1):c.820del (p.Arg274fs)
|
rs1170446813
|
|
NM_001378183.1(PIEZO2):c.64+1G>A
|
rs2040867555
|
|
NM_001378454.1(ALMS1):c.1000A>T (p.Lys334Ter)
|
|
|
NM_001378454.1(ALMS1):c.10043del (p.Pro3348fs)
|
rs1553416233
|
|
NM_001378454.1(ALMS1):c.10079-1G>C
|
rs1361885101
|
|
NM_001378454.1(ALMS1):c.10079-2A>G
|
|
|
NM_001378454.1(ALMS1):c.10121C>A (p.Ser3374Ter)
|
|
|
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs)
|
rs1553416867
|
|
NM_001378454.1(ALMS1):c.10213+1G>A
|
rs374681570
|
|
NM_001378454.1(ALMS1):c.10213+1G>T
|
|
|
NM_001378454.1(ALMS1):c.10213_10213+2del
|
|
|
NM_001378454.1(ALMS1):c.10214-2A>G
|
rs2104063527
|
|
NM_001378454.1(ALMS1):c.10287_10288del (p.Lys3430fs)
|
rs1553417044
|
|
NM_001378454.1(ALMS1):c.10288A>T (p.Lys3430Ter)
|
|
|
NM_001378454.1(ALMS1):c.10321A>T (p.Lys3441Ter)
|
|
|
NM_001378454.1(ALMS1):c.10346G>A (p.Trp3449Ter)
|
|
|
NM_001378454.1(ALMS1):c.10384+1G>A
|
rs766366221
|
|
NM_001378454.1(ALMS1):c.10402G>T (p.Glu3468Ter)
|
|
|
NM_001378454.1(ALMS1):c.10436_10439del (p.Arg3478_Ser3479insTer)
|
|
|
NM_001378454.1(ALMS1):c.1045A>T (p.Lys349Ter)
|
|
|
NM_001378454.1(ALMS1):c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512fs)
|
rs1220975714
|
|
NM_001378454.1(ALMS1):c.10544_10545insCA (p.Gln3516fs)
|
rs1553418449
|
|
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter)
|
rs375019820
|
|
NM_001378454.1(ALMS1):c.10571_10572insCACATAGAGA (p.Glu3524delinsAspThrTer)
|
rs1553418457
|
|
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs)
|
rs1553418500
|
|
NM_001378454.1(ALMS1):c.10798G>T (p.Glu3600Ter)
|
|
|
NM_001378454.1(ALMS1):c.10813dup (p.Tyr3605fs)
|
rs1553418505
|
|
NM_001378454.1(ALMS1):c.10836dup (p.Arg3613fs)
|
rs1553418512
|
|
NM_001378454.1(ALMS1):c.10844del (p.Pro3615fs)
|
rs1553418513
|
|
NM_001378454.1(ALMS1):c.10874T>A (p.Leu3625Ter)
|
|
|
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)
|
rs1473611414
|
|
NM_001378454.1(ALMS1):c.10984G>T (p.Glu3662Ter)
|
|
|
NM_001378454.1(ALMS1):c.10G>T (p.Glu4Ter)
|
rs1553396092
|
|
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs)
|
rs1412574975
|
|
NM_001378454.1(ALMS1):c.1150del (p.Arg384fs)
|
|
|
NM_001378454.1(ALMS1):c.11547+1G>A
|
rs1553418638
|
|
NM_001378454.1(ALMS1):c.11547+2T>C
|
|
|
NM_001378454.1(ALMS1):c.11547+3A>T
|
rs1271250182
|
|
NM_001378454.1(ALMS1):c.11548-2A>G
|
|
|
NM_001378454.1(ALMS1):c.11548-4_11549del
|
|
|
NM_001378454.1(ALMS1):c.11616dup (p.Thr3873fs)
|
rs1553421488
|
|
NM_001378454.1(ALMS1):c.11632C>T (p.Gln3878Ter)
|
rs1675625092
|
|
NM_001378454.1(ALMS1):c.11638_11639del (p.Val3880fs)
|
rs2104189157
|
|
NM_001378454.1(ALMS1):c.11668+1G>T
|
rs1181992959
|
|
NM_001378454.1(ALMS1):c.11669-22_11686del
|
|
|
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs)
|
rs1553421626
|
|
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs)
|
rs932538480
|
|
NM_001378454.1(ALMS1):c.11718del (p.Gly3906_Ile3907insTer)
|
rs1573053394
|
|
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs)
|
rs1247974278
|
|
NM_001378454.1(ALMS1):c.1178C>A (p.Ser393Ter)
|
|
|
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs)
|
rs757722767
|
|
NM_001378454.1(ALMS1):c.11872+2T>A
|
rs1553421657
|
|
NM_001378454.1(ALMS1):c.1192dup (p.Trp398fs)
|
rs1553400778
|
|
NM_001378454.1(ALMS1):c.11943T>A (p.Cys3981Ter)
|
|
|
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)
|
rs761292021
|
|
NM_001378454.1(ALMS1):c.12075del (p.Arg4026fs)
|
rs1553421739
|
|
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs)
|
rs1553421741
|
|
NM_001378454.1(ALMS1):c.12104_12105del (p.Ala4035fs)
|
rs1553421752
|
|
NM_001378454.1(ALMS1):c.12114+1G>A
|
|
|
NM_001378454.1(ALMS1):c.12114+1G>T
|
rs376719320
|
|
NM_001378454.1(ALMS1):c.12115-1G>T
|
rs769160407
|
|
NM_001378454.1(ALMS1):c.12115-2A>T
|
rs1394193524
|
|
NM_001378454.1(ALMS1):c.12175_12177delinsTT (p.Lys4060fs)
|
rs1553421886
|
|
NM_001378454.1(ALMS1):c.12193G>T (p.Glu4065Ter)
|
|
|
NM_001378454.1(ALMS1):c.12299-1G>A
|
rs1313101326
|
|
NM_001378454.1(ALMS1):c.12299-1G>C
|
|
|
NM_001378454.1(ALMS1):c.12299-1del
|
|
|
NM_001378454.1(ALMS1):c.1229_1230del (p.Tyr410fs)
|
rs764503373
|
|
NM_001378454.1(ALMS1):c.12302_12305del (p.Phe4101fs)
|
rs1553422035
|
|
NM_001378454.1(ALMS1):c.12362+1G>A
|
rs2104203068
|
|
NM_001378454.1(ALMS1):c.12363-2A>C
|
rs2104216032
|
|
NM_001378454.1(ALMS1):c.1237+2T>C
|
rs916056435
|
|
NM_001378454.1(ALMS1):c.1237+2T>G
|
rs916056435
|
|
NM_001378454.1(ALMS1):c.12462+1del
|
rs750907119
|
|
NM_001378454.1(ALMS1):c.1247del (p.Gln416fs)
|
rs1553400956
|
|
NM_001378454.1(ALMS1):c.1324G>T (p.Glu442Ter)
|
|
|
NM_001378454.1(ALMS1):c.1336A>T (p.Lys446Ter)
|
|
|
NM_001378454.1(ALMS1):c.1432+1G>T
|
rs1553401634
|
|
NM_001378454.1(ALMS1):c.1432+2T>A
|
rs2103734661
|
|
NM_001378454.1(ALMS1):c.1432+2T>C
|
|
|
NM_001378454.1(ALMS1):c.1432+2_1432+15del
|
rs1203193062
|
|
NM_001378454.1(ALMS1):c.1433-2A>G
|
rs2103770992
|
|
NM_001378454.1(ALMS1):c.1437_1450del (p.Asp479fs)
|
rs1572931120
|
|
NM_001378454.1(ALMS1):c.1557del (p.Gln519fs)
|
rs1553403262
|
|
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs)
|
rs1553403282
|
|
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter)
|
rs1347176614
|
|
NM_001378454.1(ALMS1):c.1645G>T (p.Glu549Ter)
|
|
|
NM_001378454.1(ALMS1):c.1658_1659del (p.Lys553fs)
|
rs2103771766
|
|
NM_001378454.1(ALMS1):c.188_189delinsC (p.Gln63fs)
|
rs1553396238
|
|
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)
|
rs780843883
|
|
NM_001378454.1(ALMS1):c.1941del (p.Val648fs)
|
rs1671852270
|
|
NM_001378454.1(ALMS1):c.1966G>T (p.Glu656Ter)
|
rs773971557
|
|
NM_001378454.1(ALMS1):c.1_9del (p.Met1_Pro3del)
|
rs1553396088
|
|
NM_001378454.1(ALMS1):c.20del (p.Pro7fs)
|
rs1340135231
|
|
NM_001378454.1(ALMS1):c.2130_2134del (p.Val711fs)
|
rs1553403401
|
|
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)
|
rs771459937
|
|
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs)
|
rs769291842
|
|
NM_001378454.1(ALMS1):c.2293_2296del (p.Ser765fs)
|
rs1457500348
|
|
NM_001378454.1(ALMS1):c.2333T>A (p.Leu778Ter)
|
|
|
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs)
|
rs765764128
|
|
NM_001378454.1(ALMS1):c.2590G>T (p.Gly864Ter)
|
|
|
NM_001378454.1(ALMS1):c.2686C>T (p.Gln896Ter)
|
|
|
NM_001378454.1(ALMS1):c.2689A>T (p.Lys897Ter)
|
|
|
NM_001378454.1(ALMS1):c.2728_2731del (p.His910fs)
|
rs1558648189
|
|
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs)
|
rs1230351650
|
|
NM_001378454.1(ALMS1):c.2790dup (p.Ala931fs)
|
rs1553403560
|
|
NM_001378454.1(ALMS1):c.281del (p.Pro94fs)
|
rs2104060044
|
|
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs)
|
rs2104060044
|
|
NM_001378454.1(ALMS1):c.284dup (p.His96fs)
|
rs1553396293
|
|
NM_001378454.1(ALMS1):c.296C>A (p.Ser99Ter)
|
rs1553396296
|
|
NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg)
|
rs1553396091
|
|
NM_001378454.1(ALMS1):c.3041_3042delinsT (p.Gln1014fs)
|
rs1553403598
|
|
NM_001378454.1(ALMS1):c.3176T>A (p.Leu1059Ter)
|
|
|
NM_001378454.1(ALMS1):c.325-1G>A
|
rs764337753
|
|
NM_001378454.1(ALMS1):c.32dup (p.Leu12fs)
|
rs1553396098
|
|
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs)
|
rs1553403656
|
|
NM_001378454.1(ALMS1):c.3345dup (p.Leu1116fs)
|
rs2103778571
|
|
NM_001378454.1(ALMS1):c.3463C>T (p.His1155Tyr)
|
rs2103779035
|
|
NM_001378454.1(ALMS1):c.3489_3498del (p.His1163fs)
|
rs1553403685
|
|
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs)
|
rs1558648759
|
|
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs)
|
rs1553398842
|
|
NM_001378454.1(ALMS1):c.3712_3715del (p.Ser1238fs)
|
|
|
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs)
|
rs868776324
|
|
NM_001378454.1(ALMS1):c.3778G>T (p.Glu1260Ter)
|
|
|
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter)
|
rs1085307054
|
|
NM_001378454.1(ALMS1):c.3868A>T (p.Arg1290Ter)
|
|
|
NM_001378454.1(ALMS1):c.3873_3874del (p.Lys1292fs)
|
rs1553403762
|
|
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter)
|
rs2103780557
|
|
NM_001378454.1(ALMS1):c.3952G>T (p.Gly1318Ter)
|
|
|
NM_001378454.1(ALMS1):c.4002C>G (p.Tyr1334Ter)
|
rs2103780942
|
|
NM_001378454.1(ALMS1):c.4149dup (p.His1384fs)
|
rs1671915447
|
|
NM_001378454.1(ALMS1):c.4244del (p.Gly1415fs)
|
rs2103781993
|
|
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs)
|
rs1553403851
|
|
NM_001378454.1(ALMS1):c.4300A>T (p.Lys1434Ter)
|
|
|
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)
|
rs1208636696
|
|
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
|
|
|
NM_001378454.1(ALMS1):c.4331del (p.Pro1444fs)
|
rs1553403864
|
|
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter)
|
rs778728424
|
|
NM_001378454.1(ALMS1):c.4351G>T (p.Glu1451Ter)
|
|
|
NM_001378454.1(ALMS1):c.4375C>T (p.Pro1459Ser)
|
|
|
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter)
|
rs904289501
|
|
NM_001378454.1(ALMS1):c.4425del (p.Ser1476fs)
|
rs1553403882
|
|
NM_001378454.1(ALMS1):c.450+1G>A
|
rs1302255267
|
|
NM_001378454.1(ALMS1):c.450+2T>C
|
rs1671019928
|
|
NM_001378454.1(ALMS1):c.451-2A>G
|
|
|
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter)
|
rs1572935708
|
|
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)
|
|
|
NM_001378454.1(ALMS1):c.4838del (p.Gly1613fs)
|
|
|
NM_001378454.1(ALMS1):c.4960A>T (p.Lys1654Ter)
|
|
|
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs)
|
rs1572936092
|
|
NM_001378454.1(ALMS1):c.5010_5032del (p.Lys1670fs)
|
rs1553403989
|
|
NM_001378454.1(ALMS1):c.5143A>T (p.Arg1715Ter)
|
rs773513360
|
|
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs)
|
rs1553404020
|
|
NM_001378454.1(ALMS1):c.5196_5197del (p.Gln1733fs)
|
rs1553404028
|
|
NM_001378454.1(ALMS1):c.5239C>T (p.Gln1747Ter)
|
|
|
NM_001378454.1(ALMS1):c.5240A>T (p.Gln1747Leu)
|
rs1572936360
|
|
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs)
|
rs2103785778
|
|
NM_001378454.1(ALMS1):c.5415del (p.Tyr1806fs)
|
rs1553404066
|
|
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs)
|
rs770264966
|
|
NM_001378454.1(ALMS1):c.5553C>A (p.Tyr1851Ter)
|
|
|
NM_001378454.1(ALMS1):c.5560A>T (p.Arg1854Ter)
|
|
|
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)
|
|
|
NM_001378454.1(ALMS1):c.5622del (p.Ala1875fs)
|
rs1057517445
|
|
NM_001378454.1(ALMS1):c.5653A>T (p.Lys1885Ter)
|
|
|
NM_001378454.1(ALMS1):c.5684C>G (p.Ser1895Cys)
|
rs2103787360
|
|
NM_001378454.1(ALMS1):c.5726del (p.Glu1909fs)
|
rs1572936972
|
|
NM_001378454.1(ALMS1):c.5830A>T (p.Arg1944Ter)
|
|
|
NM_001378454.1(ALMS1):c.5860del (p.Glu1954fs)
|
rs1553404150
|
|
NM_001378454.1(ALMS1):c.5886del (p.Glu1963fs)
|
rs1553404156
|
|
NM_001378454.1(ALMS1):c.5903C>A (p.Ser1968Ter)
|
|
|
NM_001378454.1(ALMS1):c.5929A>T (p.Lys1977Ter)
|
|
|
NM_001378454.1(ALMS1):c.5964C>A (p.Tyr1988Ter)
|
|
|
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter)
|
rs777080769
|
|
NM_001378454.1(ALMS1):c.5977A>T (p.Lys1993Ter)
|
|
|
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs)
|
rs1553404180
|
|
NM_001378454.1(ALMS1):c.6070A>T (p.Lys2024Ter)
|
|
|
NM_001378454.1(ALMS1):c.6175C>T (p.Gln2059Ter)
|
|
|
NM_001378454.1(ALMS1):c.6205A>T (p.Lys2069Ter)
|
|
|
NM_001378454.1(ALMS1):c.6269del (p.Ser2090fs)
|
rs1572937636
|
|
NM_001378454.1(ALMS1):c.646+2T>A
|
rs1572911143
|
|
NM_001378454.1(ALMS1):c.646+2T>C
|
rs1572911143
|
|
NM_001378454.1(ALMS1):c.647-2A>T
|
rs1671310097
|
|
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs)
|
rs1553404252
|
|
NM_001378454.1(ALMS1):c.6487G>T (p.Glu2163Ter)
|
|
|
NM_001378454.1(ALMS1):c.6570_6573dup (p.Gly2192fs)
|
rs1553404277
|
|
NM_001378454.1(ALMS1):c.6690del (p.Val2231fs)
|
rs1553404305
|
|
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)
|
rs1553404310
|
|
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs)
|
rs1553404337
|
|
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs)
|
rs1553404358
|
|
NM_001378454.1(ALMS1):c.6910A>T (p.Lys2304Ter)
|
|
|
NM_001378454.1(ALMS1):c.6925dup (p.Thr2309fs)
|
rs1553404368
|
|
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs)
|
rs1553404377
|
|
NM_001378454.1(ALMS1):c.695dup (p.Leu232fs)
|
rs1553400437
|
|
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs)
|
rs1553404423
|
|
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs)
|
rs1553404426
|
|
NM_001378454.1(ALMS1):c.7330_7331delinsATA (p.Leu2444fs)
|
rs1553404457
|
|
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs)
|
rs1370417967
|
|
NM_001378454.1(ALMS1):c.7388_7392dup (p.Val2465fs)
|
rs1553404473
|
|
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)
|
rs2103794046
|
|
NM_001378454.1(ALMS1):c.7454del (p.Asn2485fs)
|
rs1217507627
|
|
NM_001378454.1(ALMS1):c.7540+1G>A
|
|
|
NM_001378454.1(ALMS1):c.7540+1G>T
|
|
|
NM_001378454.1(ALMS1):c.7540+2T>C
|
rs1672009270
|
|
NM_001378454.1(ALMS1):c.7544G>A (p.Trp2515Ter)
|
|
|
NM_001378454.1(ALMS1):c.7580dup (p.Tyr2527Ter)
|
rs1672034468
|
|
NM_001378454.1(ALMS1):c.765-1G>C
|
|
|
NM_001378454.1(ALMS1):c.769del (p.Ile257fs)
|
rs1553400675
|
|
NM_001378454.1(ALMS1):c.7777G>T (p.Glu2593Ter)
|
|
|
NM_001378454.1(ALMS1):c.7806T>A (p.Cys2602Ter)
|
|
|
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs)
|
rs1553409617
|
|
NM_001378454.1(ALMS1):c.7879_7880insACAG (p.Val2627fs)
|
rs2103889898
|
|
NM_001378454.1(ALMS1):c.7898T>A (p.Leu2633Ter)
|
|
|
NM_001378454.1(ALMS1):c.7969_7975del (p.Phe2657fs)
|
|
|
NM_001378454.1(ALMS1):c.7998_8013dup (p.Phe2672fs)
|
rs1553409656
|
|
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer)
|
rs758952057
|
|
NM_001378454.1(ALMS1):c.8077G>T (p.Glu2693Ter)
|
|
|
NM_001378454.1(ALMS1):c.8117_8118delinsG (p.Glu2706fs)
|
rs1182262187
|
|
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs)
|
rs1553409683
|
|
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs)
|
rs1553409686
|
|
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs)
|
rs1553409691
|
|
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer)
|
rs1553409710
|
|
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
|
|
|
NM_001378454.1(ALMS1):c.8435T>A (p.Leu2812Ter)
|
|
|
NM_001378454.1(ALMS1):c.8490T>A (p.Cys2830Ter)
|
|
|
NM_001378454.1(ALMS1):c.8529_8530insA (p.Leu2844fs)
|
rs2103892164
|
|
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs)
|
rs1553409764
|
|
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs)
|
rs1553409774
|
|
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter)
|
rs1553409778
|
|
NM_001378454.1(ALMS1):c.9064C>T (p.Gln3022Ter)
|
|
|
NM_001378454.1(ALMS1):c.9121A>T (p.Arg3041Ter)
|
|
|
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs)
|
rs1553409851
|
|
NM_001378454.1(ALMS1):c.9226A>T (p.Lys3076Ter)
|
|
|
NM_001378454.1(ALMS1):c.925_926insT (p.Gln309fs)
|
rs1553400709
|
|
NM_001378454.1(ALMS1):c.9427A>T (p.Lys3143Ter)
|
|
|
NM_001378454.1(ALMS1):c.9539+1G>T
|
rs1553409901
|
|
NM_001378454.1(ALMS1):c.9760_9761dup (p.Phe3255fs)
|
rs1553412797
|
|
NM_001378454.1(ALMS1):c.9781+1G>C
|
|
|
NM_001378454.1(ALMS1):c.9782-1269_9859del
|
|
|
NM_001378454.1(ALMS1):c.9782-1271_9845del
|
|
|
NM_001378454.1(ALMS1):c.9782-1G>A
|
rs1673992163
|
|
NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter)
|
rs368412850
|
|
NM_001378454.1(ALMS1):c.9815_9828del (p.Gly3272fs)
|
rs1553414071
|
|
NM_001378454.1(ALMS1):c.9823A>T (p.Lys3275Ter)
|
|
|
NM_001378454.1(ALMS1):c.9850C>T (p.Gln3284Ter)
|
|
|
NM_001378454.1(ALMS1):c.985G>T (p.Glu329Ter)
|
|
|
NM_001378454.1(ALMS1):c.985_986del (p.Glu329fs)
|
|
|
NM_001378454.1(ALMS1):c.9907+1G>A
|
|
|
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
|
|
|
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)
|
rs754690894
|
|
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val)
|
rs1277996676
|
|
NM_001378609.3(OTOGL):c.4279+1G>A
|
rs2137876491
|
|
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs)
|
rs763898293
|
|
NM_001378609.3(OTOGL):c.4600+1G>T
|
|
|
NM_001378609.3(OTOGL):c.5027C>G (p.Ser1676Ter)
|
rs1477766714
|
|
NM_001378609.3(OTOGL):c.5211C>A (p.Cys1737Ter)
|
rs2137943672
|
|
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
|
|
|
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs)
|
rs876657658
|
|
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)
|
rs1560166511
|
|
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)
|
rs763596840
|
|
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs)
|
rs1560184664
|
|
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs)
|
rs2109070129
|
|
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs)
|
rs1719933188
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.3976-3C>A
|
rs576298659
|
|
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)
|
rs863225176
|
|
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
|
|
|
NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs)
|
rs1392635342
|
|
NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)
|
|
|
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)
|
rs386833765
|
|
NM_001378789.1(CERS3):c.46del (p.Leu16fs)
|
rs1596772428
|
|
NM_001379180.1(ESRRB):c.*1451C>G
|
rs1485778712
|
|
NM_001379180.1(ESRRB):c.583C>T (p.Arg195Cys)
|
rs138510486
|
|
NM_001379286.1(ZNF423):c.2555G>A (p.Gly852Glu)
|
rs1596759273
|
|
NM_001382391.1(CSPP1):c.-10-1G>T
|
|
|
NM_001382391.1(CSPP1):c.-54_-51del
|
|
|
NM_001382391.1(CSPP1):c.100-2A>C
|
|
|
NM_001382391.1(CSPP1):c.1022+1G>C
|
|
|
NM_001382391.1(CSPP1):c.1022+1G>T
|
rs2129547115
|
|
NM_001382391.1(CSPP1):c.1187+1G>A
|
|
|
NM_001382391.1(CSPP1):c.1188-2A>G
|
|
|
NM_001382391.1(CSPP1):c.1828-1G>C
|
|
|
NM_001382391.1(CSPP1):c.2129-2A>G
|
rs2129559034
|
|
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)
|
rs1402669959
|
|
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs)
|
rs1827118960
|
|
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs)
|
rs2129561783
|
|
NM_001382391.1(CSPP1):c.3110-1G>A
|
rs1064795687
|
|
NM_001382391.1(CSPP1):c.3221-1G>A
|
|
|
NM_001382391.1(CSPP1):c.3330+1G>C
|
rs1045070965
|
|
NM_001382391.1(CSPP1):c.3330+2T>C
|
|
|
NM_001382391.1(CSPP1):c.3331-2A>G
|
rs1836992042
|
|
NM_001382391.1(CSPP1):c.483+2T>A
|
|
|
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)
|
rs766020802
|
|
NM_001384140.1(PCDH15):c.1013dup (p.His339fs)
|
|
|
NM_001384140.1(PCDH15):c.1073_1074del (p.His358fs)
|
|
|
NM_001384140.1(PCDH15):c.1075C>T (p.Gln359Ter)
|
rs2051720336
|
|
NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)
|
|
|
NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)
|
|
|
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs)
|
rs1591095476
|
|
NM_001384140.1(PCDH15):c.1178C>T (p.Pro393Leu)
|
|
|
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter)
|
rs759187261
|
|
NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)
|
|
|
NM_001384140.1(PCDH15):c.1299del (p.Ile433fs)
|
|
|
NM_001384140.1(PCDH15):c.1305+1G>A
|
rs758947077
|
|
NM_001384140.1(PCDH15):c.1305+1G>C
|
rs758947077
|
|
NM_001384140.1(PCDH15):c.1305+1del
|
rs1554833699
|
|
NM_001384140.1(PCDH15):c.1306-1G>T
|
rs1299990309
|
|
NM_001384140.1(PCDH15):c.1316del (p.Pro439fs)
|
|
|
NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)
|
|
|
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)
|
rs2133817680
|
|
NM_001384140.1(PCDH15):c.139del (p.Asp47fs)
|
rs1555032952
|
|
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)
|
rs1193650682
|
|
NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)
|
|
|
NM_001384140.1(PCDH15):c.1430dup (p.Tyr477Ter)
|
|
|
NM_001384140.1(PCDH15):c.1431C>A (p.Tyr477Ter)
|
|
|
NM_001384140.1(PCDH15):c.1440+2T>C
|
rs1363688830
|
|
NM_001384140.1(PCDH15):c.1441-2A>C
|
rs758482449
|
|
NM_001384140.1(PCDH15):c.1454_1455del (p.Asp485fs)
|
|
|
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter)
|
rs1168400018
|
|
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter)
|
rs2133801342
|
|
NM_001384140.1(PCDH15):c.1495_1496insA (p.Val499fs)
|
|
|
NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)
|
|
|
NM_001384140.1(PCDH15):c.157+1G>C
|
rs1057516770
|
|
NM_001384140.1(PCDH15):c.158-2A>T
|
rs1304228309
|
|
NM_001384140.1(PCDH15):c.1591-2A>C
|
|
|
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs)
|
rs1057516892
|
|
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer)
|
rs1554816541
|
|
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs)
|
rs397517451
|
|
NM_001384140.1(PCDH15):c.1717_1729del (p.Met573fs)
|
|
|
NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)
|
|
|
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter)
|
rs1264383341
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1738_1739del (p.Ala580fs)
|
|
|
NM_001384140.1(PCDH15):c.1738del (p.Ala580fs)
|
|
|
NM_001384140.1(PCDH15):c.1770_1771del (p.Pro591fs)
|
rs1057517150
|
|
NM_001384140.1(PCDH15):c.1778_1784dup (p.Asn596fs)
|
|
|
NM_001384140.1(PCDH15):c.1784+1G>T
|
|
|
NM_001384140.1(PCDH15):c.1785-2A>C
|
rs1057516474
|
|
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter)
|
rs1057517443
|
|
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)
|
rs1057517261
|
|
NM_001384140.1(PCDH15):c.1841del (p.Pro614fs)
|
|
|
NM_001384140.1(PCDH15):c.1917+1G>A
|
|
|
NM_001384140.1(PCDH15):c.1917+2T>C
|
rs1554806149
|
|
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs)
|
rs2136049616
|
|
NM_001384140.1(PCDH15):c.1997+1G>T
|
rs763797356
|
|
NM_001384140.1(PCDH15):c.1998-2A>G
|
rs397517452
|
|
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val)
|
rs1040514625
|
|
NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer)
|
rs765906921
|
|
NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter)
|
rs1554956088
|
|
NM_001384140.1(PCDH15):c.2091+2T>C
|
rs1554956023
|
|
NM_001384140.1(PCDH15):c.2092-2A>G
|
|
|
NM_001384140.1(PCDH15):c.2097_2098insG (p.Thr700fs)
|
|
|
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
|
|
|
NM_001384140.1(PCDH15):c.2118_2119insA (p.Val707fs)
|
|
|
NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)
|
|
|
NM_001384140.1(PCDH15):c.2176_2188del (p.Ser726fs)
|
|
|
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter)
|
rs2094144044
|
|
NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)
|
|
|
NM_001384140.1(PCDH15):c.2208_2211del (p.Gly737fs)
|
|
|
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs)
|
rs2135322143
|
|
NM_001384140.1(PCDH15):c.2356G>T (p.Glu786Ter)
|
|
|
NM_001384140.1(PCDH15):c.2388dup (p.His797fs)
|
|
|
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)
|
rs757027638
|
|
NM_001384140.1(PCDH15):c.2518_2519del (p.Gln840fs)
|
|
|
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
|
|
|
NM_001384140.1(PCDH15):c.2544del (p.Gly849fs)
|
|
|
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter)
|
rs201328768
|
|
NM_001384140.1(PCDH15):c.2662C>T (p.Gln888Ter)
|
|
|
NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs)
|
|
|
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)
|
rs143842048
|
|
NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter)
|
rs2091805733
|
|
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
|
|
|
NM_001384140.1(PCDH15):c.2825_2828dup (p.Pro944fs)
|
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
NM_001384140.1(PCDH15):c.2869-1G>T
|
rs1554883705
|
|
NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)
|
|
|
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs)
|
rs2134302083
|
|
NM_001384140.1(PCDH15):c.2922C>G (p.Tyr974Ter)
|
|
|
NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)
|
|
|
NM_001384140.1(PCDH15):c.299del (p.Gly100fs)
|
rs1554940316
|
|
NM_001384140.1(PCDH15):c.29del (p.Cys10fs)
|
rs1555135419
|
|
NM_001384140.1(PCDH15):c.3009+1G>C
|
|
|
NM_001384140.1(PCDH15):c.3009+1G>T
|
|
|
NM_001384140.1(PCDH15):c.3010-1G>C
|
rs2134277047
|
|
NM_001384140.1(PCDH15):c.3023del (p.Ala1008fs)
|
rs1057517284
|
|
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly)
|
rs776416750
|
|
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
|
|
|
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)
|
rs1554882652
|
|
NM_001384140.1(PCDH15):c.3082del (p.His1028fs)
|
rs1057517325
|
|
NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)
|
|
|
NM_001384140.1(PCDH15):c.3122+1G>A
|
rs982893820
|
|
NM_001384140.1(PCDH15):c.3122+2T>A
|
rs1554882546
|
|
NM_001384140.1(PCDH15):c.3123-1G>A
|
rs1554873550
|
|
NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)
|
|
|
NM_001384140.1(PCDH15):c.3152_3153insC (p.Lys1051fs)
|
|
|
NM_001384140.1(PCDH15):c.3204_3205del (p.Tyr1069fs)
|
|
|
NM_001384140.1(PCDH15):c.3211del (p.Ile1071fs)
|
rs1057516974
|
|
NM_001384140.1(PCDH15):c.3232+1G>A
|
|
|
NM_001384140.1(PCDH15):c.3233-2A>G
|
rs1554872194
|
|
NM_001384140.1(PCDH15):c.323del (p.Pro108fs)
|
rs1554934073
|
|
NM_001384140.1(PCDH15):c.3300_3319dup (p.Val1107fs)
|
|
|
NM_001384140.1(PCDH15):c.333dup (p.His112fs)
|
rs1057516992
|
|
NM_001384140.1(PCDH15):c.3341del (p.Val1114fs)
|
rs1057516656
|
|
NM_001384140.1(PCDH15):c.3373+2T>C
|
|
|
NM_001384140.1(PCDH15):c.3374-1G>T
|
rs1554852472
|
|
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)
|
rs770832663
|
|
NM_001384140.1(PCDH15):c.3462_3463del (p.Glu1155fs)
|
|
|
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs)
|
rs746865307
|
|
NM_001384140.1(PCDH15):c.3488del (p.Val1163fs)
|
|
|
NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs)
|
rs2133664431
|
|
NM_001384140.1(PCDH15):c.3499A>T (p.Lys1167Ter)
|
|
|
NM_001384140.1(PCDH15):c.3501+1G>T
|
rs1402893508
|
|
NM_001384140.1(PCDH15):c.3502-2A>G
|
rs1554836566
|
|
NM_001384140.1(PCDH15):c.355del (p.Gln119fs)
|
|
|
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)
|
rs1057517264
|
|
NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)
|
|
|
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
|
|
|
NM_001384140.1(PCDH15):c.3612del (p.Thr1206fs)
|
|
|
NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)
|
|
|
NM_001384140.1(PCDH15):c.3653del (p.Phe1218fs)
|
rs1057516268
|
|
NM_001384140.1(PCDH15):c.366del (p.Asn122fs)
|
rs1589072933
|
|
NM_001384140.1(PCDH15):c.3717+1G>A
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3717+1G>C
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3717+1G>T
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.371_372delinsT (p.Lys124fs)
|
|
|
NM_001384140.1(PCDH15):c.3731_3734del (p.Asn1244fs)
|
rs1554833314
|
|
NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)
|
|
|
NM_001384140.1(PCDH15):c.3751del (p.Ile1251fs)
|
|
|
NM_001384140.1(PCDH15):c.3788del (p.Lys1263fs)
|
|
|
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs)
|
rs1554833249
|
|
NM_001384140.1(PCDH15):c.3792_3798dup (p.Leu1267fs)
|
rs1554833242
|
|
NM_001384140.1(PCDH15):c.3806+1G>C
|
rs1554833227
|
|
NM_001384140.1(PCDH15):c.3885_3889dup (p.Ala1297fs)
|
rs1057516780
|
|
NM_001384140.1(PCDH15):c.3907del (p.Tyr1303fs)
|
|
|
NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)
|
|
|
NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)
|
|
|
NM_001384140.1(PCDH15):c.3982dup (p.Phe1329fs)
|
|
|
NM_001384140.1(PCDH15):c.3984-1G>C
|
rs1057520709
|
|
NM_001384140.1(PCDH15):c.3984-2A>C
|
|
|
NM_001384140.1(PCDH15):c.3984-2A>G
|
rs1554824185
|
|
NM_001384140.1(PCDH15):c.3989del (p.Leu1330fs)
|
|
|
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)
|
rs137853003
|
|
NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)
|
|
|
NM_001384140.1(PCDH15):c.4034_4035del (p.Tyr1345fs)
|
|
|
NM_001384140.1(PCDH15):c.4094dup (p.Arg1366fs)
|
|
|
NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)
|
|
|
NM_001384140.1(PCDH15):c.4126del (p.Ala1376fs)
|
|
|
NM_001384140.1(PCDH15):c.416_444del (p.Asp139fs)
|
rs1057517182
|
|
NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu)
|
rs2134714388
|
|
NM_001384140.1(PCDH15):c.4197_4198insGTAG (p.Arg1400fs)
|
rs1057516821
|
|
NM_001384140.1(PCDH15):c.4211+1G>A
|
rs1554823229
|
|
NM_001384140.1(PCDH15):c.4211+1del
|
rs1554823231
|
|
NM_001384140.1(PCDH15):c.4211+2dup
|
rs1057517419
|
|
NM_001384140.1(PCDH15):c.4223_4226dup (p.Cys1409Ter)
|
|
|
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)
|
rs1057516472
|
|
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs)
|
rs1554822897
|
|
NM_001384140.1(PCDH15):c.4237_4238del (p.Ala1413fs)
|
rs1554822891
|
|
NM_001384140.1(PCDH15):c.42del (p.Ile15fs)
|
|
|
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4313del (p.Pro1438fs)
|
rs1057516351
|
|
NM_001384140.1(PCDH15):c.4367+1G>A
|
rs1057516613
|
|
NM_001384140.1(PCDH15):c.4367+2251G>A
|
|
|
NM_001384140.1(PCDH15):c.4367+2T>C
|
rs1554822703
|
|
NM_001384140.1(PCDH15):c.4367+2dup
|
|
|
NM_001384140.1(PCDH15):c.457dup (p.Tyr153fs)
|
|
|
NM_001384140.1(PCDH15):c.475-2204_594+1766del
|
|
|
NM_001384140.1(PCDH15):c.475-2A>G
|
|
|
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
|
rs766484375
|
|
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter)
|
rs1943288780
|
|
NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter)
|
rs1943286459
|
|
NM_001384140.1(PCDH15):c.594+1G>T
|
rs1057516470
|
|
NM_001384140.1(PCDH15):c.60_63del (p.Phe21fs)
|
|
|
NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter)
|
rs1554903979
|
|
NM_001384140.1(PCDH15):c.705+1G>A
|
rs1554903842
|
|
NM_001384140.1(PCDH15):c.705+5G>A
|
|
|
NM_001384140.1(PCDH15):c.706-3_717del
|
rs769348776
|
|
NM_001384140.1(PCDH15):c.738_739insT (p.Thr247fs)
|
|
|
NM_001384140.1(PCDH15):c.754_755insAA (p.Thr252fs)
|
rs2133652254
|
|
NM_001384140.1(PCDH15):c.788C>A (p.Pro263Gln)
|
rs1564949059
|
|
NM_001384140.1(PCDH15):c.811dup (p.Val271fs)
|
|
|
NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)
|
|
|
NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter)
|
rs903145299
|
|
NM_001384140.1(PCDH15):c.876+1G>C
|
rs2133646979
|
|
NM_001384140.1(PCDH15):c.876+2T>C
|
|
|
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs)
|
rs1057517048
|
|
NM_001384140.1(PCDH15):c.91+1G>A
|
rs1565887701
|
|
NM_001384140.1(PCDH15):c.915dup (p.Ala306fs)
|
|
|
NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs)
|
rs2144243196
|
|
NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter)
|
|
|
NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2598+1G>A
|
|
|
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter)
|
rs2037495535
|
|
NM_001384474.1(LOXHD1):c.2842del (p.Glu948fs)
|
rs2144013371
|
|
NM_001384474.1(LOXHD1):c.3061+1G>T
|
rs537227442
|
|
NM_001384474.1(LOXHD1):c.3350+1G>A
|
rs1301706601
|
|
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs)
|
rs2143824066
|
|
NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3663del (p.Phe1221fs)
|
rs2144371589
|
|
NM_001384474.1(LOXHD1):c.3727C>T (p.Arg1243Trp)
|
|
|
NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3999C>A (p.Cys1333Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4095+1G>A
|
rs1280052681
|
|
NM_001384474.1(LOXHD1):c.4096-1G>C
|
rs749861944
|
|
NM_001384474.1(LOXHD1):c.4375+1G>T
|
rs2036150181
|
|
NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter)
|
|
|
NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)
|
rs75949023
|
|
NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4740+1G>A
|
rs2144167172
|
|
NM_001384474.1(LOXHD1):c.4877-1G>A
|
rs1598909650
|
|
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp)
|
|
|
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs)
|
rs776345911
|
|
NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs)
|
|
|
NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs)
|
|
|
NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs)
|
|
|
NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs)
|
|
|
NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs)
|
|
|
NM_001384474.1(LOXHD1):c.6071del (p.Thr2024fs)
|
rs2032939837
|
|
NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs)
|
|
|
NM_001384474.1(LOXHD1):c.6182+1G>T
|
rs200375658
|
|
NM_001384474.1(LOXHD1):c.6342-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter)
|
rs1434725624
|
|
NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter)
|
|
|
NM_001384732.1(CPLANE1):c.1122-2A>G
|
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)
|
|
|
NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs)
|
rs926409425
|
|
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
|
|
|
NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)
|
|
|
NM_001384732.1(CPLANE1):c.7234-2_7234del
|
|
|
NM_001384732.1(CPLANE1):c.8471del (p.Phe2823_Leu2824insTer)
|
|
|
NM_001386140.1(MTTP):c.1067T>G (p.Leu356Ter)
|
rs1725580386
|
|
NM_001386140.1(MTTP):c.1106C>A (p.Ser369Ter)
|
|
|
NM_001386140.1(MTTP):c.1117G>T (p.Glu373Ter)
|
rs1725671165
|
|
NM_001386140.1(MTTP):c.114C>A (p.Tyr38Ter)
|
|
|
NM_001386140.1(MTTP):c.1168del (p.Gln390fs)
|
|
|
NM_001386140.1(MTTP):c.1266_1267del (p.Ser422fs)
|
|
|
NM_001386140.1(MTTP):c.1321C>T (p.Gln441Ter)
|
rs1486643983
|
|
NM_001386140.1(MTTP):c.1327G>T (p.Glu443Ter)
|
rs1725702758
|
|
NM_001386140.1(MTTP):c.1367T>A (p.Leu456Ter)
|
rs1725826321
|
|
NM_001386140.1(MTTP):c.141del (p.Gly49fs)
|
rs1228389182
|
|
NM_001386140.1(MTTP):c.1428_1429insGAAAAATCATA (p.Leu477fs)
|
|
|
NM_001386140.1(MTTP):c.1558-2A>G
|
rs1553927840
|
|
NM_001386140.1(MTTP):c.1573_1574del (p.Asn525fs)
|
|
|
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs)
|
rs2110230146
|
|
NM_001386140.1(MTTP):c.1646del (p.Asn549fs)
|
|
|
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter)
|
rs1725885571
|
|
NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter)
|
rs1725886004
|
|
NM_001386140.1(MTTP):c.1756G>T (p.Glu586Ter)
|
|
|
NM_001386140.1(MTTP):c.1933A>T (p.Arg645Ter)
|
|
|
NM_001386140.1(MTTP):c.1940del (p.Asn647fs)
|
|
|
NM_001386140.1(MTTP):c.1953_1954del (p.Phe651fs)
|
|
|
NM_001386140.1(MTTP):c.1959C>A (p.Tyr653Ter)
|
rs1725953201
|
|
NM_001386140.1(MTTP):c.1964_1965del (p.Gly655fs)
|
|
|
NM_001386140.1(MTTP):c.2021T>A (p.Leu674Ter)
|
rs1725996321
|
|
NM_001386140.1(MTTP):c.2055delinsAGGCA (p.Asn685fs)
|
|
|
NM_001386140.1(MTTP):c.2097_2098del (p.Gln700fs)
|
|
|
NM_001386140.1(MTTP):c.2113_2114del (p.Thr705fs)
|
|
|
NM_001386140.1(MTTP):c.2125G>T (p.Gly709Ter)
|
rs1726001209
|
|
NM_001386140.1(MTTP):c.2183_2184del (p.Val728fs)
|
|
|
NM_001386140.1(MTTP):c.2228T>A (p.Leu743Ter)
|
|
|
NM_001386140.1(MTTP):c.2260C>T (p.Gln754Ter)
|
rs1726166189
|
|
NM_001386140.1(MTTP):c.2299_2300delinsA (p.Phe767fs)
|
|
|
NM_001386140.1(MTTP):c.22_23insCTGAA (p.Phe8fs)
|
|
|
NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter)
|
rs777548973
|
|
NM_001386140.1(MTTP):c.275_276del (p.Val92fs)
|
|
|
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter)
|
rs1560614646
|
|
NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter)
|
|
|
NM_001386140.1(MTTP):c.358C>T (p.Gln120Ter)
|
rs1725178752
|
|
NM_001386140.1(MTTP):c.363_369del (p.Arg121fs)
|
|
|
NM_001386140.1(MTTP):c.486_488delinsA (p.Gly163fs)
|
|
|
NM_001386140.1(MTTP):c.502-2A>G
|
rs1725410386
|
|
NM_001386140.1(MTTP):c.546del (p.Asp183fs)
|
|
|
NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter)
|
rs1725413862
|
|
NM_001386140.1(MTTP):c.674_675insATGTAGCTTTTGAA (p.Ser225delinsArgCysSerPheTer)
|
|
|
NM_001386140.1(MTTP):c.696_697del (p.Glu233fs)
|
|
|
NM_001386140.1(MTTP):c.710_711delinsGATGTGTATAAGAGACAG (p.Asn237delinsArgCysValTer)
|
|
|
NM_001386140.1(MTTP):c.734_742delinsAAGA (p.Thr245fs)
|
|
|
NM_001386140.1(MTTP):c.75dup (p.Leu26fs)
|
|
|
NM_001386140.1(MTTP):c.775A>T (p.Lys259Ter)
|
rs1283854712
|
|
NM_001386140.1(MTTP):c.807_813del (p.Gly270fs)
|
|
|
NM_001386140.1(MTTP):c.808G>T (p.Gly270Ter)
|
|
|
NM_001386140.1(MTTP):c.903T>A (p.Cys301Ter)
|
rs1725516307
|
|
NM_001386140.1(MTTP):c.957_963del (p.Asn319fs)
|
|
|
NM_001393500.2(TOMT):c.285_286insCTCG (p.Glu96fs)
|
rs1565331646
|
|
NM_001393500.2(TOMT):c.467del (p.Ile156fs)
|
|
|
NM_001395413.1(POR):c.1320dup (p.Ile441fs)
|
rs786205875
|
|
NM_001395413.1(POR):c.1477T>C (p.Trp493Arg)
|
rs2116630442
|
|
NM_001510.4(GRID2):c.910C>T (p.Arg304Ter)
|
rs1579319300
|
|
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu)
|
rs606231458
|
|
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)
|
rs1568060200
|
|
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp)
|
rs1192977984
|
|
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val)
|
rs782217473
|
|
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
|
|
|
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
|
|
|
NM_001614.5(ACTG1):c.20C>T (p.Ala7Val)
|
|
|
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val)
|
rs11549190
|
|
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)
|
|
|
NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe)
|
rs2143779274
|
|
NM_001614.5(ACTG1):c.440G>A (p.Arg147His)
|
rs2143779222
|
|
NM_001614.5(ACTG1):c.457A>G (p.Met153Val)
|
rs1555666789
|
|
NM_001614.5(ACTG1):c.493A>G (p.Ile165Val)
|
rs2031770749
|
|
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val)
|
rs797044730
|
|
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp)
|
rs1362994447
|
|
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met)
|
rs281875327
|
|
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln)
|
rs1555666715
|
|
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)
|
|
|
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)
|
rs267606631
|
|
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)
|
rs281875328
|
|
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)
|
rs281875329
|
|
NM_001614.5(ACTG1):c.826G>A (p.Glu276Lys)
|
rs2143775790
|
|
NM_001614.5(ACTG1):c.848T>C (p.Met283Thr)
|
rs2143775617
|
|
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser)
|
rs1598551290
|
|
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
|
|
|
NM_001690.4(ATP6V1A):c.299A>T (p.Asp100Val)
|
|
|
NM_001692.4(ATP6V1B1):c.1002_1004delinsTG (p.Val335fs)
|
|
|
NM_001692.4(ATP6V1B1):c.1004del (p.Val335fs)
|
rs1680634325
|
|
NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs)
|
rs1553416787
|
|
NM_001692.4(ATP6V1B1):c.1449G>T (p.Lys483Asn)
|
rs2104834809
|
|
NM_001692.4(ATP6V1B1):c.273+2T>A
|
rs1680488861
|
|
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs)
|
rs1679840658
|
|
NM_001692.4(ATP6V1B1):c.285del (p.Thr96fs)
|
|
|
NM_001692.4(ATP6V1B1):c.403A>T (p.Lys135Ter)
|
|
|
NM_001692.4(ATP6V1B1):c.448C>T (p.Gln150Ter)
|
|
|
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter)
|
rs1553419751
|
|
NM_001692.4(ATP6V1B1):c.541C>T (p.Gln181Ter)
|
|
|
NM_001813.3(CENPE):c.2132-1G>C
|
rs1754377539
|
|
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn)
|
rs144716013
|
|
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
|
|
|
NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
|
|
|
NM_001814.6(CTSC):c.173-2A>C
|
|
|
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)
|
rs199474831
|
|
NM_001814.6(CTSC):c.360_362dup (p.Thr121dup)
|
|
|
NM_001814.6(CTSC):c.485+1G>A
|
|
|
NM_001814.6(CTSC):c.486-25_492del
|
|
|
NM_001814.6(CTSC):c.641+1G>A
|
|
|
NM_001814.6(CTSC):c.642-2A>G
|
|
|
NM_001814.6(CTSC):c.757+1G>T
|
|
|
NM_001814.6(CTSC):c.855dup (p.Gln286fs)
|
|
|
NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn)
|
|
|
NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter)
|
rs150584960
|
|
NM_001983.4(ERCC1):c.231del (p.Thr78fs)
|
rs2123520960
|
|
NM_002109.6(HARS1):c.1329GAA[1] (p.Lys444del)
|
rs756193571
|
|
NM_002109.6(HARS1):c.90+1G>C
|
rs1554109203
|
|
NM_002180.2(IGHMBP2):c.[660A>C];[92G>A]
|
|
|
NM_002180.3(IGHMBP2):c.1060+1G>T
|
rs1366461184
|
|
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys)
|
rs1178427226
|
|
NM_002180.3(IGHMBP2):c.1193C>A (p.Ala398Glu)
|
rs35193202
|
|
NM_002180.3(IGHMBP2):c.1235+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.1235+894C>A
|
rs1202430946
|
|
NM_002180.3(IGHMBP2):c.1236-1G>T
|
rs1124336
|
|
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)
|
|
|
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)
|
rs1566443170
|
|
NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro)
|
rs571142182
|
|
NM_002180.3(IGHMBP2):c.1418+1G>C
|
rs1160978570
|
|
NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro)
|
rs2154008646
|
|
NM_002180.3(IGHMBP2):c.1493T>C (p.Leu498Pro)
|
rs2154008654
|
|
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)
|
rs754465226
|
|
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr)
|
rs756985703
|
|
NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu)
|
rs879253887
|
|
NM_002180.3(IGHMBP2):c.1632+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.1632+3del
|
rs2154008712
|
|
NM_002180.3(IGHMBP2):c.1633-2A>G
|
rs1566445029
|
|
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)
|
rs368775789
|
|
NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His)
|
rs1240319744
|
|
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)
|
rs1057518943
|
|
NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu)
|
|
|
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
|
rs1225532037
|
|
NM_002180.3(IGHMBP2):c.256+5G>C
|
|
|
NM_002180.3(IGHMBP2):c.257-2A>G
|
rs1566424655
|
|
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)
|
rs886037759
|
|
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)
|
rs972425138
|
|
NM_002180.3(IGHMBP2):c.449+2T>A
|
|
|
NM_002180.3(IGHMBP2):c.449+2del
|
|
|
NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro)
|
|
|
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)
|
rs137852666
|
|
NM_002180.3(IGHMBP2):c.688C>G (p.Gln230Glu)
|
rs1555243325
|
|
NM_002180.3(IGHMBP2):c.729del (p.Ser244fs)
|
rs1594427410
|
|
NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu)
|
rs777575504
|
|
NM_002180.3(IGHMBP2):c.86+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)
|
rs557416644
|
|
NM_002180.3(IGHMBP2):c.905_912+85del
|
|
|
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)
|
rs746581714
|
|
NM_002226.5(JAG2):c.841G>T (p.Gly281Cys)
|
rs1377648342
|
|
NM_002230.4(JUP):c.1158+1G>T
|
rs2143591648
|
|
NM_002230.4(JUP):c.1654-2A>G
|
|
|
NM_002230.4(JUP):c.1924+1G>A
|
rs1597781765
|
|
NM_002230.4(JUP):c.468G>A (p.Pro156=)
|
rs886037753
|
|
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)
|
rs137853071
|
|
NM_002292.4(LAMB2):c.130del (p.Arg44fs)
|
rs2107645768
|
|
NM_002292.4(LAMB2):c.1488del (p.Leu496_Val497insTer)
|
rs2107643014
|
|
NM_002292.4(LAMB2):c.1599-1G>T
|
rs1330915067
|
|
NM_002292.4(LAMB2):c.2700_2701del (p.Gly901_Gly902insTer)
|
|
|
NM_002292.4(LAMB2):c.3109+1G>T
|
rs888830612
|
|
NM_002292.4(LAMB2):c.386-11_393del
|
|
|
NM_002292.4(LAMB2):c.4276dup (p.Ala1426fs)
|
rs2045366127
|
|
NM_002292.4(LAMB2):c.4882dup (p.Ala1628fs)
|
|
|
NM_002292.4(LAMB2):c.4923+2T>G
|
|
|
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)
|
rs2045472442
|
|
NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln)
|
rs2153153067
|
|
NM_002335.4(LRP5):c.1067C>T (p.Ser356Leu)
|
rs1158745675
|
|
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly)
|
rs886040977
|
|
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)
|
rs121908664
|
|
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr)
|
rs1057519574
|
|
NM_002335.4(LRP5):c.2371A>G (p.Met791Val)
|
|
|
NM_002335.4(LRP5):c.3028-1G>A
|
|
|
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp)
|
rs141178995
|
|
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr)
|
rs1326459816
|
|
NM_002335.4(LRP5):c.4489-2A>G
|
rs1057519575
|
|
NM_002454.3(MTRR):c.1146+1G>C
|
rs772608494
|
|
NM_002454.3(MTRR):c.130-1G>A
|
|
|
NM_002454.3(MTRR):c.1327+1G>A
|
|
|
NM_002454.3(MTRR):c.1371-1G>A
|
rs1219605974
|
|
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg)
|
rs137853061
|
|
NM_002454.3(MTRR):c.1676+2T>C
|
|
|
NM_002454.3(MTRR):c.1677-1G>A
|
|
|
NM_002454.3(MTRR):c.1A>G (p.Met1Val)
|
rs1747827267
|
|
NM_002454.3(MTRR):c.283+1G>A
|
|
|
NM_002454.3(MTRR):c.283+1_283+20del
|
rs1748371268
|
|
NM_002454.3(MTRR):c.401+2_401+7del
|
rs2126676051
|
|
NM_002454.3(MTRR):c.402-1G>C
|
|
|
NM_002454.3(MTRR):c.402-1G>T
|
rs1734858651
|
|
NM_002454.3(MTRR):c.402-2A>G
|
rs2126692827
|
|
NM_002454.3(MTRR):c.781-2A>C
|
|
|
NM_002454.3(MTRR):c.781-2A>T
|
|
|
NM_002454.3(MTRR):c.903+1G>A
|
|
|
NM_002454.3(MTRR):c.904-1G>T
|
|
|
NM_002454.3(MTRR):c.904-2A>G
|
|
|
NM_002454.3(MTRR):c.916del (p.Ser306fs)
|
rs1212701617
|
|
NM_002454.3(MTRR):c.973_1146+462del
|
|
|
NM_002470.4(MYH3):c.4111C>T (p.Gln1371Ter)
|
|
|
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)
|
rs1184544985
|
|
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
|
rs80338831
|
|
NM_002485.4(NBN):c.2185-?_*(1_?)del
|
|
|
NM_002485.5(NBN):c.105_135del (p.Ile35fs)
|
rs730881840
|
|
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)
|
rs2129744741
|
|
NM_002485.5(NBN):c.1124+1G>A
|
rs1057517209
|
|
NM_002485.5(NBN):c.1124+1G>C
|
rs1057517209
|
|
NM_002485.5(NBN):c.1124+2T>G
|
rs1554560352
|
|
NM_002485.5(NBN):c.1125-1G>A
|
rs1057517102
|
|
NM_002485.5(NBN):c.1125-1G>C
|
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter)
|
rs1554559308
|
|
NM_002485.5(NBN):c.1307T>A (p.Leu436Ter)
|
|
|
NM_002485.5(NBN):c.1396del (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1397+1G>A
|
|
|
NM_002485.5(NBN):c.1397+1_1397+3delinsACA
|
|
|
NM_002485.5(NBN):c.1397+1_1397+9del
|
rs2129716262
|
|
NM_002485.5(NBN):c.1397+2T>A
|
rs730881850
|
|
NM_002485.5(NBN):c.1398-2A>G
|
rs2129704501
|
|
NM_002485.5(NBN):c.144_145del (p.Leu48fs)
|
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs)
|
rs1554558449
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1581_1597del (p.Asp527fs)
|
|
|
NM_002485.5(NBN):c.1587dup (p.Ser530fs)
|
rs1057516332
|
|
NM_002485.5(NBN):c.1622_1634del (p.Ala541fs)
|
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
NM_002485.5(NBN):c.1640C>A (p.Ser547Ter)
|
|
|
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer)
|
rs776417262
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1689_1690del (p.Glu564fs)
|
|
|
NM_002485.5(NBN):c.171+1G>A
|
rs931715719
|
|
NM_002485.5(NBN):c.171+1G>C
|
rs931715719
|
|
NM_002485.5(NBN):c.171+1G>T
|
rs931715719
|
|
NM_002485.5(NBN):c.172-1G>A
|
rs1391598284
|
|
NM_002485.5(NBN):c.172-1G>T
|
rs1391598284
|
|
NM_002485.5(NBN):c.172-2A>T
|
rs2129916685
|
|
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)
|
rs786201745
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.1767del (p.Arg590fs)
|
|
|
NM_002485.5(NBN):c.178dup (p.Thr60fs)
|
rs1057516392
|
|
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
NM_002485.5(NBN):c.1845+1G>A
|
rs2129695663
|
|
NM_002485.5(NBN):c.1845+2T>C
|
rs1586052622
|
|
NM_002485.5(NBN):c.1845+2T>G
|
|
|
NM_002485.5(NBN):c.1846-1G>A
|
rs61753717
|
|
NM_002485.5(NBN):c.1846-1G>T
|
rs61753717
|
|
NM_002485.5(NBN):c.1846-726_1895del
|
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
NM_002485.5(NBN):c.1896del (p.Trp632fs)
|
|
|
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)
|
rs1563516254
|
|
NM_002485.5(NBN):c.1911_1914+1del
|
rs1554556880
|
|
NM_002485.5(NBN):c.1914+1G>T
|
|
|
NM_002485.5(NBN):c.1914+2T>G
|
rs2129659522
|
|
NM_002485.5(NBN):c.1914+2_1914+3del
|
rs1586043528
|
|
NM_002485.5(NBN):c.1923del (p.Asp641fs)
|
|
|
NM_002485.5(NBN):c.1968_1969del (p.Leu656fs)
|
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs)
|
rs1057516852
|
|
NM_002485.5(NBN):c.2047A>T (p.Lys683Ter)
|
|
|
NM_002485.5(NBN):c.2049_2050delinsT (p.Lys683fs)
|
rs1057516869
|
|
NM_002485.5(NBN):c.2051dup (p.Asn684fs)
|
rs1586040200
|
|
NM_002485.5(NBN):c.2070+1G>A
|
rs1554556454
|
|
NM_002485.5(NBN):c.2070+1G>T
|
rs1554556454
|
|
NM_002485.5(NBN):c.2070+2T>A
|
rs786203223
|
|
NM_002485.5(NBN):c.2070+2T>G
|
rs786203223
|
|
NM_002485.5(NBN):c.2071-1175_2184+2del
|
|
|
NM_002485.5(NBN):c.2071-1G>A
|
rs786201965
|
|
NM_002485.5(NBN):c.2071-1G>C
|
rs786201965
|
|
NM_002485.5(NBN):c.2071-1G>T
|
|
|
NM_002485.5(NBN):c.2071-2A>C
|
rs775397477
|
|
NM_002485.5(NBN):c.2071-2A>G
|
rs775397477
|
|
NM_002485.5(NBN):c.2071-2A>T
|
|
|
NM_002485.5(NBN):c.2119_2141del (p.Asp707fs)
|
rs1554555782
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
NM_002485.5(NBN):c.2127dup (p.Ala710fs)
|
|
|
NM_002485.5(NBN):c.2128_2132del (p.Ala710fs)
|
rs2130755743
|
|
NM_002485.5(NBN):c.2132_2133del (p.His711fs)
|
rs2130755717
|
|
NM_002485.5(NBN):c.2141_2142del (p.Arg714fs)
|
rs2130755572
|
|
NM_002485.5(NBN):c.2144dup (p.Asn716fs)
|
rs1810033982
|
|
NM_002485.5(NBN):c.2150_2157del (p.Thr717fs)
|
rs2130755422
|
|
NM_002485.5(NBN):c.2154_2155insGGAA (p.Leu719fs)
|
rs2130755457
|
|
NM_002485.5(NBN):c.2155_2156del (p.Leu719fs)
|
|
|
NM_002485.5(NBN):c.2160dup (p.Glu721fs)
|
|
|
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs)
|
rs1554568348
|
|
NM_002485.5(NBN):c.2173del (p.Gln725fs)
|
rs2130755261
|
|
NM_002485.5(NBN):c.2184+1G>A
|
rs756363734
|
|
NM_002485.5(NBN):c.2184+2T>A
|
rs75823099
|
|
NM_002485.5(NBN):c.2184+2T>G
|
rs75823099
|
|
NM_002485.5(NBN):c.2185-1G>A
|
rs1057517262
|
|
NM_002485.5(NBN):c.2187dup (p.Gln730fs)
|
rs2130739402
|
|
NM_002485.5(NBN):c.2194C>T (p.Gln732Ter)
|
rs1554554265
|
|
NM_002485.5(NBN):c.2226_2234+4del
|
rs1563497529
|
|
NM_002485.5(NBN):c.2234+1G>A
|
rs1586024147
|
|
NM_002485.5(NBN):c.2234+1G>T
|
rs1586024147
|
|
NM_002485.5(NBN):c.2235-2A>G
|
rs767094704
|
|
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)
|
rs751570713
|
|
NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter)
|
rs751570713
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.307G>T (p.Gly103Ter)
|
|
|
NM_002485.5(NBN):c.313A>T (p.Lys105Ter)
|
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
NM_002485.5(NBN):c.320+1G>A
|
rs1364533250
|
|
NM_002485.5(NBN):c.321-1G>A
|
|
|
NM_002485.5(NBN):c.321-2A>G
|
rs587777931
|
|
NM_002485.5(NBN):c.35_37+10del
|
rs781710700
|
|
NM_002485.5(NBN):c.38-2A>G
|
rs771475965
|
|
NM_002485.5(NBN):c.380_383delinsAC (p.Ala127fs)
|
rs1554567960
|
|
NM_002485.5(NBN):c.432del (p.Glu145fs)
|
rs1554567902
|
|
NM_002485.5(NBN):c.47_51del (p.Tyr16fs)
|
|
|
NM_002485.5(NBN):c.480+2T>G
|
|
|
NM_002485.5(NBN):c.530_531del (p.Phe177fs)
|
|
|
NM_002485.5(NBN):c.531del (p.Phe177fs)
|
rs1057516787
|
|
NM_002485.5(NBN):c.584+1G>A
|
rs1811862598
|
|
NM_002485.5(NBN):c.584+1G>T
|
|
|
NM_002485.5(NBN):c.584+2T>C
|
rs1586101154
|
|
NM_002485.5(NBN):c.585-1G>A
|
rs1394578008
|
|
NM_002485.5(NBN):c.585-1_585delinsC
|
rs786203662
|
|
NM_002485.5(NBN):c.585-2A>G
|
rs772005832
|
|
NM_002485.5(NBN):c.589del (p.Tyr197fs)
|
rs1586088924
|
|
NM_002485.5(NBN):c.590dup (p.Tyr197Ter)
|
rs1554564309
|
|
NM_002485.5(NBN):c.702+1G>A
|
rs1057517104
|
|
NM_002485.5(NBN):c.702+1G>C
|
rs1057517104
|
|
NM_002485.5(NBN):c.702+1G>T
|
rs1057517104
|
|
NM_002485.5(NBN):c.702+1del
|
rs1586088347
|
|
NM_002485.5(NBN):c.702+2T>A
|
rs1811497703
|
|
NM_002485.5(NBN):c.702+2T>C
|
rs1811497703
|
|
NM_002485.5(NBN):c.702+2del
|
|
|
NM_002485.5(NBN):c.737del (p.Gly246fs)
|
rs1811464751
|
|
NM_002485.5(NBN):c.769G>T (p.Glu257Ter)
|
|
|
NM_002485.5(NBN):c.803del (p.Thr268fs)
|
|
|
NM_002485.5(NBN):c.848del (p.Pro283fs)
|
rs2129827996
|
|
NM_002485.5(NBN):c.88_89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.896+1G>A
|
rs778306619
|
|
NM_002485.5(NBN):c.896+1G>T
|
rs778306619
|
|
NM_002485.5(NBN):c.896+2T>C
|
rs754659423
|
|
NM_002485.5(NBN):c.897-1G>A
|
rs1586076299
|
|
NM_002485.5(NBN):c.897-2A>G
|
rs864622090
|
|
NM_002485.5(NBN):c.89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)
|
rs371480039
|
|
NM_002485.5(NBN):c.962del (p.Asn321fs)
|
rs1586075907
|
|
NM_002485.5(NBN):c.962dup (p.Asn321fs)
|
|
|
NM_002485.5(NBN):c.994+1G>T
|
rs1554562083
|
|
NM_002485.5(NBN):c.994+2T>C
|
rs1586075690
|
|
NM_002485.5(NBN):c.995-1G>C
|
rs1554560523
|
|
NM_002485.5(NBN):c.995-1G>T
|
rs1554560523
|
|
NM_002485.5(NBN):c.995-23_998inv
|
|
|
NM_002485.5(NBN):c.995-2A>C
|
rs876659521
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|
NM_002485.5(NBN):c.995G>A (p.Gly332Glu)
|
rs2129747182
|
|
NM_002617.4(PEX10):c.113-1G>C
|
|
|
NM_002617.4(PEX10):c.125G>A (p.Trp42Ter)
|
|
|
NM_002617.4(PEX10):c.135G>A (p.Trp45Ter)
|
|
|
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
|
|
|
NM_002617.4(PEX10):c.142dup (p.Glu48fs)
|
|
|
NM_002617.4(PEX10):c.157_158del (p.Ser53fs)
|
rs1384671249
|
|
NM_002617.4(PEX10):c.200A>G (p.Gln67Arg)
|
|
|
NM_002617.4(PEX10):c.20del (p.Ser7fs)
|
rs1553232926
|
|
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)
|
rs531987102
|
|
NM_002617.4(PEX10):c.222_223del (p.Ser75fs)
|
|
|
NM_002617.4(PEX10):c.247_251del (p.Arg83fs)
|
|
|
NM_002617.4(PEX10):c.26del (p.Pro9fs)
|
rs1553232917
|
|
NM_002617.4(PEX10):c.295del (p.His99fs)
|
rs1557910651
|
|
NM_002617.4(PEX10):c.335_338del (p.Pro112fs)
|
rs2100429450
|
|
NM_002617.4(PEX10):c.338del (p.Leu113fs)
|
rs878853044
|
|
NM_002617.4(PEX10):c.346_363delinsTGGGCCCCTG (p.Glu116fs)
|
|
|
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)
|
rs369965266
|
|
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs)
|
rs2100429011
|
|
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
|
|
|
NM_002617.4(PEX10):c.424_425dup (p.Arg143fs)
|
|
|
NM_002617.4(PEX10):c.445_452del (p.Thr149fs)
|
|
|
NM_002617.4(PEX10):c.4del (p.Ala2fs)
|
rs62636524
|
|
NM_002617.4(PEX10):c.522_523del (p.Gln175fs)
|
|
|
NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)
|
|
|
NM_002617.4(PEX10):c.551del (p.Ile184fs)
|
rs1557910202
|
|
NM_002617.4(PEX10):c.587del (p.Thr196fs)
|
|
|
NM_002617.4(PEX10):c.592del (p.Ile198fs)
|
|
|
NM_002617.4(PEX10):c.600+1del
|
rs1553232077
|
|
NM_002617.4(PEX10):c.600C>G (p.Tyr200Ter)
|
|
|
NM_002617.4(PEX10):c.601-18dup
|
|
|
NM_002617.4(PEX10):c.601-24_601-23del
|
rs1553231875
|
|
NM_002617.4(PEX10):c.601-26_601-25delinsCTC
|
rs1553231888
|
|
NM_002617.4(PEX10):c.601-38_601-37del
|
rs1553231896
|
|
NM_002617.4(PEX10):c.601-61G>A
|
|
|
NM_002617.4(PEX10):c.618del (p.Gly208fs)
|
|
|
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer)
|
rs768893724
|
|
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter)
|
rs1295555837
|
|
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
|
|
|
NM_002617.4(PEX10):c.755_756del (p.His252fs)
|
rs1325771720
|
|
NM_002617.4(PEX10):c.761del (p.Gly254fs)
|
rs1553231820
|
|
NM_002617.4(PEX10):c.773_776+17del
|
|
|
NM_002617.4(PEX10):c.776+1G>A
|
|
|
NM_002617.4(PEX10):c.776+1G>C
|
rs869312935
|
|
NM_002617.4(PEX10):c.776+2T>A
|
rs1335685844
|
|
NM_002617.4(PEX10):c.777-1G>A
|
|
|
NM_002617.4(PEX10):c.790G>T (p.Glu264Ter)
|
rs769251149
|
|
NM_002617.4(PEX10):c.795_796del (p.Arg265fs)
|
rs1553231787
|
|
NM_002617.4(PEX10):c.813_814del (p.Leu272fs)
|
|
|
NM_002617.4(PEX10):c.815del (p.Leu272fs)
|
rs1553231783
|
|
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)
|
rs724160000
|
|
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)
|
rs62641225
|
|
NM_002617.4(PEX10):c.844_848del (p.His282fs)
|
|
|
NM_002617.4(PEX10):c.868dup (p.His290fs)
|
|
|
NM_002617.4(PEX10):c.8del (p.Pro3fs)
|
|
|
NM_002617.4(PEX10):c.912+1G>A
|
rs1553231739
|
|
NM_002617.4(PEX10):c.912+1G>C
|
rs1553231739
|
|
NM_002617.4(PEX10):c.916del (p.Glu306fs)
|
rs2100419143
|
|
NM_002618.4(PEX13):c.787+1G>A
|
rs2104803776
|
|
NM_002618.4(PEX13):c.92+1G>A
|
|
|
NM_002618.4(PEX13):c.93-1G>A
|
|
|
NM_002693.2(POLG):c.[2554C>T];[32G>A]
|
|
|
NM_002693.3(POLG):c.67_88del (p.Gly23fs)
|
rs2055630470
|
|
NM_002700.3(POU4F3):c.374C>T (p.Pro125Leu)
|
rs1561590396
|
|
NM_002700.3(POU4F3):c.479del (p.Gly160fs)
|
|
|
NM_002700.3(POU4F3):c.494_497del (p.His165fs)
|
|
|
NM_002700.3(POU4F3):c.635T>C (p.Leu212Pro)
|
rs1760430376
|
|
NM_002700.3(POU4F3):c.696G>T (p.Glu232Asp)
|
rs1760431636
|
|
NM_002700.3(POU4F3):c.743T>C (p.Leu248Pro)
|
|
|
NM_002700.3(POU4F3):c.879C>G (p.Phe293Leu)
|
|
|
NM_002700.3(POU4F3):c.952G>A (p.Val318Met)
|
rs2126962041
|
|
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)
|
rs1064794609
|
|
NM_002855.5(NECTIN1):c.226C>T (p.Gln76Ter)
|
|
|
NM_002855.5(NECTIN1):c.472C>T (p.Arg158Ter)
|
rs2135551778
|
|
NM_002857.4(PEX19):c.180+1G>T
|
rs1320716582
|
|
NM_002857.4(PEX19):c.181-2A>G
|
rs2101804905
|
|
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)
|
|
|
NM_002857.4(PEX19):c.346+2T>C
|
rs1657837348
|
|
NM_002857.4(PEX19):c.594+1G>C
|
|
|
NM_002857.4(PEX19):c.70+2T>G
|
|
|
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs)
|
rs1555264243
|
|
NM_002860.4(ALDH18A1):c.2344T>C (p.Tyr782His)
|
|
|
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser)
|
rs774047299
|
|
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter)
|
rs2045882525
|
|
NM_002906.4(RDX):c.-64-1215_12+348del
|
|
|
NM_002906.4(RDX):c.1076_1079del (p.Ile359fs)
|
|
|
NM_002906.4(RDX):c.1141C>T (p.Arg381Ter)
|
rs1308348441
|
|
NM_002906.4(RDX):c.295C>T (p.Gln99Ter)
|
|
|
NM_002906.4(RDX):c.513_514del (p.Arg171fs)
|
rs2134364635
|
|
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
|
|
|
NM_003047.5(SLC9A1):c.1048_1052dup (p.Gly352fs)
|
rs1221107969
|
|
NM_003052.5(SLC34A1):c.1175-3C>A
|
rs2127355139
|
|
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)
|
rs876661296
|
|
NM_003052.5(SLC34A1):c.454_480dup (p.Val152_Val160dup)
|
rs777543926
|
|
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val)
|
rs769409705
|
|
NM_003052.5(SLC34A1):c.527_528del (p.Ser176fs)
|
|
|
NM_003052.5(SLC34A1):c.532+2T>C
|
rs1762582225
|
|
NM_003052.5(SLC34A1):c.713A>C (p.Glu238Ala)
|
rs1554095500
|
|
NM_003104.6(SORD):c.361G>C (p.Ala121Pro)
|
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)
|
rs767004810
|
|
NM_003193.5(TBCE):c.355_356del (p.Ile119fs)
|
rs1572391840
|
|
NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer)
|
rs727503559
|
|
NM_003322.6(TULP1):c.241_249delinsC (p.Ala81fs)
|
|
|
NM_003322.6(TULP1):c.855dup (p.Val286fs)
|
rs1554125752
|
|
NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn)
|
rs386833839
|
|
NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg)
|
rs386833841
|
|
NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter)
|
rs386833842
|
|
NM_003383.5(VLDLR):c.1962+1G>A
|
rs2130801524
|
|
NM_003383.5(VLDLR):c.1962+2T>C
|
rs1563764078
|
|
NM_003383.5(VLDLR):c.2144G>A (p.Cys715Tyr)
|
|
|
NM_003383.5(VLDLR):c.2252-2A>C
|
|
|
NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter)
|
rs2130810631
|
|
NM_003383.5(VLDLR):c.262dup (p.Arg88fs)
|
rs2130785730
|
|
NM_003383.5(VLDLR):c.2T>C (p.Met1Thr)
|
rs797046092
|
|
NM_003383.5(VLDLR):c.325+1G>A
|
|
|
NM_003383.5(VLDLR):c.325+1del
|
|
|
NM_003383.5(VLDLR):c.376C>T (p.Gln126Ter)
|
|
|
NM_003384.2(VRK1):c.318_889+1945del
|
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.1069-2A>G
|
|
|
NM_003384.3(VRK1):c.1094del (p.Ser365fs)
|
rs2139845854
|
|
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs)
|
rs2139845924
|
|
NM_003384.3(VRK1):c.156_160+3del
|
rs1566696845
|
|
NM_003384.3(VRK1):c.160+1G>T
|
rs2139749072
|
|
NM_003384.3(VRK1):c.161-2A>G
|
|
|
NM_003384.3(VRK1):c.216+1G>A
|
|
|
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu)
|
rs2139779062
|
|
NM_003384.3(VRK1):c.287-2A>C
|
|
|
NM_003384.3(VRK1):c.374+1G>T
|
|
|
NM_003384.3(VRK1):c.402_890-895del
|
|
|
NM_003384.3(VRK1):c.483+1G>A
|
|
|
NM_003384.3(VRK1):c.576+1G>A
|
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.710-1G>A
|
|
|
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)
|
rs1428656431
|
|
NM_003384.3(VRK1):c.812T>C (p.Val271Ala)
|
rs2139804166
|
|
NM_003384.3(VRK1):c.830+1G>C
|
|
|
NM_003384.3(VRK1):c.889+1G>A
|
rs1482696609
|
|
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)
|
rs1566713184
|
|
NM_003494.3(DYSF):c.[2643+1G>A];[3113G>A]
|
|
|
NM_003494.3(DYSF):c.[2643+1G>A];[4577A>C]
|
|
|
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
|
|
|
NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs)
|
rs1553541329
|
|
NM_003494.4(DYSF):c.1A>G (p.Met1Val)
|
rs1259378167
|
|
NM_003494.4(DYSF):c.2T>C (p.Met1Thr)
|
rs1459713589
|
|
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs)
|
rs1553495983
|
|
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]
|
|
|
NM_003504.5(CDC45):c.203A>G (p.Gln68Arg)
|
rs879255633
|
|
NM_003504.5(CDC45):c.226A>C (p.Asn76His)
|
rs879255632
|
|
NM_003504.5(CDC45):c.893C>T (p.Ala298Val)
|
rs146559223
|
|
NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter)
|
|
|
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs)
|
rs760638778
|
|
NM_003630.3(PEX3):c.144C>A (p.Tyr48Ter)
|
|
|
NM_003630.3(PEX3):c.331+1G>C
|
|
|
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg)
|
rs1562654527
|
|
NM_003630.3(PEX3):c.685G>T (p.Gly229Ter)
|
|
|
NM_003630.3(PEX3):c.844A>C (p.Thr282Pro)
|
rs1473197986
|
|
NM_003672.4(CDC14A):c.50-1G>T
|
rs2100872719
|
|
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly)
|
rs148737918
|
|
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln)
|
rs369245990
|
|
NM_003672.4(CDC14A):c.959A>C (p.Gln320Pro)
|
rs1339709390
|
|
NM_003673.4(TCAP):c.110+1G>A
|
rs113187448
|
|
NM_003673.4(TCAP):c.25_31dup (p.Ser11Ter)
|
rs863224933
|
|
NM_003673.4(TCAP):c.32C>A (p.Ser11Ter)
|
rs45495192
|
|
NM_003673.4(TCAP):c.34dup (p.Glu12fs)
|
rs1555606959
|
|
NM_003701.4(TNFSF11):c.667C>T (p.Arg223Ter)
|
rs267603829
|
|
NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu)
|
rs1185010700
|
|
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro)
|
rs782768127
|
|
NM_003801.4(GPAA1):c.152C>T (p.Ser51Leu)
|
rs1554763770
|
|
NM_003801.4(GPAA1):c.367-1G>A
|
|
|
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro)
|
rs1554764058
|
|
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro)
|
rs1010907740
|
|
NM_003839.4(TNFRSF11A):c.147A>C (p.Lys49Asn)
|
rs2145289462
|
|
NM_003839.4(TNFRSF11A):c.328dup (p.Arg110fs)
|
|
|
NM_003839.4(TNFRSF11A):c.380G>A (p.Cys127Tyr)
|
rs2145309285
|
|
NM_003839.4(TNFRSF11A):c.443A>T (p.Asp148Val)
|
|
|
NM_003846.3(PEX11B):c.124C>T (p.Gln42Ter)
|
|
|
NM_003846.3(PEX11B):c.275del (p.Asn92fs)
|
|
|
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser)
|
rs367638648
|
|
NM_003896.4(ST3GAL5):c.207-2A>C
|
rs2104059095
|
|
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs)
|
rs754643632
|
|
NM_003896.4(ST3GAL5):c.662+2T>C
|
|
|
NM_003896.4(ST3GAL5):c.663-1G>A
|
|
|
NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp)
|
rs1573589807
|
|
NM_003896.4(ST3GAL5):c.83-4119G>A
|
|
|
NM_003896.4(ST3GAL5):c.850-1G>A
|
rs2103936382
|
|
NM_004004.6(GJB2):c.-23G>T
|
rs786204734
|
|
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly)
|
rs111033296
|
|
NM_004004.6(GJB2):c.11del (p.Gly4fs)
|
rs1555342014
|
|
NM_004004.6(GJB2):c.130_131del (p.Trp44fs)
|
rs1555341993
|
|
NM_004004.6(GJB2):c.134del (p.Gly45fs)
|
rs1057517491
|
|
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe)
|
rs587783645
|
|
NM_004004.6(GJB2):c.172C>T (p.Pro58Ser)
|
rs1064797090
|
|
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)
|
rs750188782
|
|
NM_004004.6(GJB2):c.1A>T (p.Met1Leu)
|
rs111033293
|
|
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)
|
rs104894402
|
|
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)
|
rs104894395
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004004.6(GJB2):c.232G>A (p.Ala78Thr)
|
rs1959060696
|
|
NM_004004.6(GJB2):c.232dup (p.Ala78fs)
|
rs1555341960
|
|
NM_004004.6(GJB2):c.239dup (p.Leu81fs)
|
rs1555341954
|
|
NM_004004.6(GJB2):c.247_249del (p.Phe83del)
|
rs2137308192
|
|
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)
|
rs1291519904
|
|
NM_004004.6(GJB2):c.257del (p.Thr86fs)
|
rs1555341949
|
|
NM_004004.6(GJB2):c.2T>G (p.Met1Arg)
|
rs371086981
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
NM_004004.6(GJB2):c.338_341dup (p.Glu114_Phe115insTer)
|
rs1555341926
|
|
NM_004004.6(GJB2):c.355G>T (p.Glu119Ter)
|
rs150529554
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.35dup (p.Val13fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)
|
rs397516875
|
|
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)
|
rs779018464
|
|
NM_004004.6(GJB2):c.409A>C (p.Thr137Pro)
|
rs2137307658
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
|
rs111033225
|
|
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)
|
rs111033420
|
|
NM_004004.6(GJB2):c.458_475dup (p.Tyr158_Asp159insValPheTyrValMetTyr)
|
|
|
NM_004004.6(GJB2):c.49_50del (p.Ser17fs)
|
rs1555342007
|
|
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg)
|
rs760489970
|
|
NM_004004.6(GJB2):c.514del (p.Trp172fs)
|
rs1057517508
|
|
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)
|
rs1302739538
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)
|
rs1566528185
|
|
NM_004004.6(GJB2):c.564_565del (p.Lys188fs)
|
rs770116143
|
|
NM_004004.6(GJB2):c.575_576del (p.Thr192fs)
|
rs1057517521
|
|
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)
|
rs111033335
|
|
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)
|
rs786204597
|
|
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)
|
rs1057517519
|
|
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)
|
rs587783646
|
|
NM_004004.6(GJB2):c.645del (p.Arg216fs)
|
rs1555341794
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004004.6(GJB2):c.668_671del (p.Lys223fs)
|
rs1555341783
|
|
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)
|
rs371024165
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004056.6(CA8):c.100+1G>A
|
rs1563390893
|
|
NM_004056.6(CA8):c.475A>T (p.Lys159Ter)
|
rs79267946
|
|
NM_004056.6(CA8):c.730dup (p.Gln244fs)
|
rs1807291595
|
|
NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val)
|
rs1557458426
|
|
NM_004086.3(COCH):c.1053C>A (p.Cys351Ter)
|
rs1895773215
|
|
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)
|
rs121908932
|
|
NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter)
|
rs1562505728
|
|
NM_004100.5(EYA4):c.1468G>T (p.Glu490Ter)
|
rs1305000119
|
|
NM_004100.5(EYA4):c.472C>T (p.Gln158Ter)
|
rs1794473050
|
|
NM_004153.4(ORC1):c.313C>T (p.Arg105Trp)
|
rs778980446
|
|
NM_004153.4(ORC1):c.688dup (p.Thr230fs)
|
|
|
NM_004153.4(ORC1):c.[2483C>T;2484del]
|
|
|
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs)
|
rs1586821679
|
|
NM_004260.4(RECQL4):c.1390+1G>T
|
rs1085307090
|
|
NM_004260.4(RECQL4):c.1885_1888del (p.Arg629fs)
|
rs386833846
|
|
NM_004260.4(RECQL4):c.1887_1890del (p.Glu630fs)
|
rs386833847
|
|
NM_004260.4(RECQL4):c.2091T>G (p.Phe697Leu)
|
rs386833850
|
|
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del)
|
rs766312203
|
|
NM_004260.4(RECQL4):c.3214A>T (p.Arg1072Ter)
|
rs386833853
|
|
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter)
|
rs137853230
|
|
NM_004260.4(RECQL4):c.3561C>G (p.Tyr1187Ter)
|
|
|
NM_004260.4(RECQL4):c.3599_3600del (p.Thr1200fs)
|
rs386833854
|
|
NM_004260.4(RECQL4):c.644_645del (p.Glu215fs)
|
rs1586824938
|
|
NM_004287.5(GOSR2):c.1A>C (p.Met1Leu)
|
|
|
NM_004373.4(COX6A1):c.247-7_247-3del
|
rs587777783
|
|
NM_004393.6(DAG1):c.454_467del (p.Phe152fs)
|
rs1553652513
|
|
NM_004393.6(DAG1):c.721_722del (p.Phe241fs)
|
|
|
NM_004393.6(DAG1):c.751del (p.Val251fs)
|
rs1575410881
|
|
NM_004415.4(DSP):c.170+1G>A
|
rs1309931610
|
|
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)
|
rs1561698362
|
|
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)
|
rs1554108410
|
|
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)
|
rs1554108431
|
|
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
|
rs1561702640
|
|
NM_004415.4(DSP):c.928dup (p.Glu310fs)
|
rs794728137
|
|
NM_004447.6(EPS8):c.1435-2A>T
|
rs1945336251
|
|
NM_004525.3(LRP2):c.11323C>T (p.Arg3775Ter)
|
rs372938477
|
|
NM_004525.3(LRP2):c.11868del (p.Trp3956fs)
|
|
|
NM_004525.3(LRP2):c.12623C>A (p.Pro4208His)
|
rs2105348670
|
|
NM_004525.3(LRP2):c.13139del (p.Pro4380fs)
|
rs80338754
|
|
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs)
|
rs80338754
|
|
NM_004525.3(LRP2):c.13568del (p.Asn4523fs)
|
rs1685554004
|
|
NM_004525.3(LRP2):c.2006del (p.Gly669fs)
|
|
|
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)
|
rs80338747
|
|
NM_004525.3(LRP2):c.7840A>T (p.Arg2614Ter)
|
rs2105329431
|
|
NM_004525.3(LRP2):c.8095C>T (p.Arg2699Ter)
|
rs1236195196
|
|
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter)
|
rs1358532875
|
|
NM_004525.3(LRP2):c.857G>T (p.Cys286Phe)
|
rs2105467271
|
|
NM_004526.4(MCM2):c.388C>T (p.Arg130Cys)
|
rs770528099
|
|
NM_004539.4(NARS1):c.179A>C (p.Lys60Thr)
|
rs1908005677
|
|
NM_004539.4(NARS1):c.616G>A (p.Glu206Lys)
|
|
|
NM_004539.4(NARS1):c.676G>C (p.Val226Leu)
|
rs778244918
|
|
NM_004539.4(NARS1):c.713G>A (p.Arg238Gln)
|
rs2122431077
|
|
NM_004539.4(NARS1):c.965G>T (p.Arg322Leu)
|
rs2122429938
|
|
NM_004539.4(NARS1):c.986G>A (p.Arg329Gln)
|
rs976688001
|
|
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp)
|
rs2118683688
|
|
NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile)
|
rs2118683614
|
|
NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe)
|
rs2118626297
|
|
NM_004560.4(ROR2):c.1565_1569delinsTGTA (p.Arg522fs)
|
rs1587655016
|
|
NM_004560.4(ROR2):c.1582C>T (p.Arg528Ter)
|
rs1448877786
|
|
NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser)
|
rs1489361512
|
|
NM_004560.4(ROR2):c.1856G>A (p.Arg619His)
|
|
|
NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr)
|
rs2118616453
|
|
NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln)
|
rs980417569
|
|
NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu)
|
rs767802430
|
|
NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr)
|
rs1434209233
|
|
NM_004560.4(ROR2):c.323G>A (p.Arg108Gln)
|
rs1587690611
|
|
NM_004560.4(ROR2):c.494+4_494+7del
|
rs2118839436
|
|
NM_004560.4(ROR2):c.623-11G>A
|
rs1350375399
|
|
NM_004560.4(ROR2):c.640G>C (p.Gly214Arg)
|
|
|
NM_004560.4(ROR2):c.717C>A (p.Cys239Ter)
|
rs56302651
|
|
NM_004560.4(ROR2):c.854A>G (p.Lys285Arg)
|
|
|
NM_004560.4(ROR2):c.899G>T (p.Cys300Phe)
|
rs2118699409
|
|
NM_004565.3(PEX14):c.204_298+125delinsTATTCCTT
|
|
|
NM_004565.3(PEX14):c.298+1G>C
|
|
|
NM_004565.3(PEX14):c.299-5_306del
|
|
|
NM_004565.3(PEX14):c.36+1G>T
|
rs1641167602
|
|
NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile)
|
rs1225963332
|
|
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter)
|
rs1648636515
|
|
NM_004700.4(KCNQ4):c.364C>T (p.Gln122Ter)
|
|
|
NM_004700.4(KCNQ4):c.826T>C (p.Trp276Arg)
|
rs2148319465
|
|
NM_004700.4(KCNQ4):c.857A>C (p.Tyr286Ser)
|
rs876657841
|
|
NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser)
|
rs137853969
|
|
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu)
|
rs1578860322
|
|
NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu)
|
|
|
NM_004813.4(PEX16):c.112+2T>G
|
rs1590798080
|
|
NM_004813.4(PEX16):c.149-2A>G
|
|
|
NM_004813.4(PEX16):c.226-2A>C
|
|
|
NM_004813.4(PEX16):c.359+1G>A
|
|
|
NM_004813.4(PEX16):c.460+5G>A
|
rs2134695257
|
|
NM_004813.4(PEX16):c.679C>G (p.Arg227Gly)
|
|
|
NM_004813.4(PEX16):c.694+1G>A
|
rs2134692847
|
|
NM_004813.4(PEX16):c.887+2T>G
|
rs2134691627
|
|
NM_004813.4(PEX16):c.888-1G>C
|
|
|
NM_004813.4(PEX16):c.888-2A>C
|
rs2086772786
|
|
NM_004813.4(PEX16):c.995_997del (p.Phe332del)
|
rs797045062
|
|
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu)
|
rs1775982467
|
|
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs)
|
rs760262127
|
|
NM_004830.4(MED23):c.479T>C (p.Leu160Pro)
|
rs786205583
|
|
NM_004836.7(EIF2AK3):c.1002+1G>C
|
|
|
NM_004836.7(EIF2AK3):c.1002+2T>C
|
|
|
NM_004836.7(EIF2AK3):c.1306+1G>A
|
|
|
NM_004836.7(EIF2AK3):c.1306+1G>C
|
|
|
NM_004836.7(EIF2AK3):c.1538del (p.Lys513fs)
|
rs1674719462
|
|
NM_004836.7(EIF2AK3):c.1578dup (p.Ala527fs)
|
|
|
NM_004836.7(EIF2AK3):c.1764-2A>G
|
rs1674549393
|
|
NM_004836.7(EIF2AK3):c.1886+2T>C
|
|
|
NM_004836.7(EIF2AK3):c.2125del (p.Ile709fs)
|
|
|
NM_004836.7(EIF2AK3):c.2128G>T (p.Glu710Ter)
|
|
|
NM_004836.7(EIF2AK3):c.2588del (p.Thr862_Leu863insTer)
|
|
|
NM_004836.7(EIF2AK3):c.2890C>T (p.Gln964Ter)
|
|
|
NM_004836.7(EIF2AK3):c.2969A>G (p.Tyr990Cys)
|
|
|
NM_004836.7(EIF2AK3):c.3051dup (p.Leu1018fs)
|
rs2104387177
|
|
NM_004836.7(EIF2AK3):c.3088-1G>C
|
|
|
NM_004836.7(EIF2AK3):c.439del
|
|
|
NM_004836.7(EIF2AK3):c.598_599del (p.Leu200fs)
|
|
|
NM_004836.7(EIF2AK3):c.641A>G (p.Tyr214Cys)
|
rs1327996297
|
|
NM_004836.7(EIF2AK3):c.672G>A (p.Trp224Ter)
|
|
|
NM_004937.3(CTNS):c.-19-1G>A
|
rs1555558034
|
|
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
|
|
|
NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln)
|
rs1057517330
|
|
NM_004937.3(CTNS):c.120dup (p.Asn41fs)
|
|
|
NM_004937.3(CTNS):c.140+1G>C
|
|
|
NM_004937.3(CTNS):c.140+1_140+20del
|
|
|
NM_004937.3(CTNS):c.140+2T>C
|
rs2075872773
|
|
NM_004937.3(CTNS):c.141-1G>A
|
rs2075906916
|
|
NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del)
|
rs786204550
|
|
NM_004937.3(CTNS):c.20del (p.Thr7fs)
|
rs1555558078
|
|
NM_004937.3(CTNS):c.225+1G>A
|
rs1555561049
|
|
NM_004937.3(CTNS):c.225+3A>T
|
|
|
NM_004937.3(CTNS):c.225+5G>A
|
|
|
NM_004937.3(CTNS):c.225+5_225+6delinsCC
|
rs786204541
|
|
NM_004937.3(CTNS):c.225+5_225+8del
|
rs1555561048
|
|
NM_004937.3(CTNS):c.226-1G>A
|
|
|
NM_004937.3(CTNS):c.226-1G>C
|
|
|
NM_004937.3(CTNS):c.236del (p.Pro79fs)
|
|
|
NM_004937.3(CTNS):c.251del (p.Asn84fs)
|
rs1057516296
|
|
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
|
|
|
NM_004937.3(CTNS):c.292dup (p.Thr98fs)
|
rs786204434
|
|
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)
|
rs376042415
|
|
NM_004937.3(CTNS):c.320_323del (p.Asn107fs)
|
rs1555562830
|
|
NM_004937.3(CTNS):c.323del (p.Gln108fs)
|
rs879255615
|
|
NM_004937.3(CTNS):c.329+2T>C
|
rs955833453
|
|
NM_004937.3(CTNS):c.395G>A (p.Trp132Ter)
|
|
|
NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter)
|
rs2076100759
|
|
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)
|
rs1555558099
|
|
NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)
|
|
|
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)
|
rs1436441738
|
|
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)
|
rs1597647930
|
|
NM_004937.3(CTNS):c.451A>G (p.Arg151Gly)
|
rs1555563010
|
|
NM_004937.3(CTNS):c.462-1G>A
|
|
|
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)
|
rs121908126
|
|
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)
|
|
|
NM_004937.3(CTNS):c.530A>G (p.Asn177Ser)
|
|
|
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)
|
rs764168489
|
|
NM_004937.3(CTNS):c.546G>A (p.Trp182Ter)
|
|
|
NM_004937.3(CTNS):c.546G>T (p.Trp182Cys)
|
rs2150922764
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.562-1G>C
|
|
|
NM_004937.3(CTNS):c.562-2A>G
|
|
|
NM_004937.3(CTNS):c.562-2_562-1del
|
rs1555563521
|
|
NM_004937.3(CTNS):c.587dup (p.Asn196fs)
|
rs1597654857
|
|
NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer)
|
rs1555563568
|
|
NM_004937.3(CTNS):c.600del (p.Pro200_Val201insTer)
|
|
|
NM_004937.3(CTNS):c.61+1G>A
|
rs1555558116
|
|
NM_004937.3(CTNS):c.61+1G>T
|
rs1555558116
|
|
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)
|
rs760256854
|
|
NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)
|
rs2150889009
|
|
NM_004937.3(CTNS):c.62-2A>G
|
rs1555560637
|
|
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
|
|
|
NM_004937.3(CTNS):c.672C>A (p.Cys224Ter)
|
|
|
NM_004937.3(CTNS):c.681+1del
|
rs1555563658
|
|
NM_004937.3(CTNS):c.681+2T>C
|
rs1057516723
|
|
NM_004937.3(CTNS):c.682-1G>A
|
rs1057516771
|
|
NM_004937.3(CTNS):c.682-1G>T
|
rs1057516771
|
|
NM_004937.3(CTNS):c.691C>T (p.Gln231Ter)
|
rs1463026342
|
|
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)
|
rs1555563982
|
|
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)
|
rs763089013
|
|
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)
|
rs777367316
|
|
NM_004937.3(CTNS):c.768dup (p.Val257fs)
|
rs1567713938
|
|
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)
|
rs759623796
|
|
NM_004937.3(CTNS):c.809C>T (p.Ser270Phe)
|
rs2150925336
|
|
NM_004937.3(CTNS):c.809_811del (p.Ser270del)
|
rs786204632
|
|
NM_004937.3(CTNS):c.814_818delinsT (p.Ile272fs)
|
|
|
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)
|
rs2150925451
|
|
NM_004937.3(CTNS):c.852+1G>A
|
rs2150925483
|
|
NM_004937.3(CTNS):c.853-1G>A
|
rs1555564588
|
|
NM_004937.3(CTNS):c.853-2A>G
|
rs1475322504
|
|
NM_004937.3(CTNS):c.864C>A (p.Asn288Lys)
|
|
|
NM_004937.3(CTNS):c.869dup (p.Tyr290Ter)
|
rs1555564600
|
|
NM_004937.3(CTNS):c.877dup (p.Ser293fs)
|
|
|
NM_004937.3(CTNS):c.926dup (p.Ser310fs)
|
rs786204420
|
|
NM_004937.3(CTNS):c.955C>T (p.Gln319Ter)
|
|
|
NM_004937.3(CTNS):c.963del (p.Ser320_Tyr321insTer)
|
|
|
NM_004937.3(CTNS):c.971-1G>C
|
rs2142982540
|
|
NM_004937.3(CTNS):c.971-1dup
|
rs1555564823
|
|
NM_004937.3(CTNS):c.971-2dup
|
|
|
NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)
|
|
|
NM_004999.4(MYO6):c.2416+2T>C
|
|
|
NM_004999.4(MYO6):c.2777T>A (p.Leu926Gln)
|
rs2149367858
|
|
NM_004999.4(MYO6):c.897G>T (p.Glu299Asp)
|
rs1060499799
|
|
NM_005199.5(CHRNG):c.1366_1367del (p.His457fs)
|
rs1309599304
|
|
NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)
|
|
|
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly)
|
rs267606726
|
|
NM_005199.5(CHRNG):c.351-2A>G
|
|
|
NM_005199.5(CHRNG):c.351-9T>C
|
rs764382582
|
|
NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter)
|
rs2106221597
|
|
NM_005199.5(CHRNG):c.895T>A (p.Ser299Thr)
|
rs2106221995
|
|
NM_005219.5(DIAPH1):c.1280+2T>G
|
rs2154596416
|
|
NM_005219.5(DIAPH1):c.144+2T>G
|
|
|
NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs)
|
rs2154596304
|
|
NM_005219.5(DIAPH1):c.2676+2T>G
|
|
|
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg)
|
rs1596339533
|
|
NM_005219.5(DIAPH1):c.402+2T>C
|
rs2154596613
|
|
NM_005219.5(DIAPH1):c.621-2A>G
|
rs2099896905
|
|
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)
|
rs149364215
|
|
NM_005236.3(ERCC4):c.388+1164_792+795del
|
|
|
NM_005236.3(ERCC4):c.580_584+1del
|
rs776329282
|
|
NM_005422.4(TECTA):c.102del (p.Asn34fs)
|
rs2135050168
|
|
NM_005422.4(TECTA):c.1247_1248del (p.Gly416fs)
|
rs773573968
|
|
NM_005422.4(TECTA):c.1774G>A (p.Val592Met)
|
rs1565522273
|
|
NM_005422.4(TECTA):c.2458A>T (p.Lys820Ter)
|
|
|
NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter)
|
rs368050948
|
|
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)
|
rs121909059
|
|
NM_005422.4(TECTA):c.5510G>A (p.Cys1837Tyr)
|
rs1947056659
|
|
NM_005422.4(TECTA):c.5539T>C (p.Ser1847Pro)
|
rs1947057220
|
|
NM_005422.4(TECTA):c.569C>T (p.Thr190Met)
|
|
|
NM_005422.4(TECTA):c.6162+5G>A
|
rs1565541888
|
|
NM_005422.4(TECTA):c.840_841insT (p.Val281fs)
|
rs1565519673
|
|
NM_005522.5(HOXA1):c.669C>A (p.Tyr223Ter)
|
rs769512832
|
|
NM_005529.7(HSPG2):c.1030T>C (p.Cys344Arg)
|
|
|
NM_005529.7(HSPG2):c.11208-7G>A
|
rs1336552092
|
|
NM_005529.7(HSPG2):c.1125C>G (p.Cys375Trp)
|
rs543805444
|
|
NM_005529.7(HSPG2):c.11730C>A (p.Cys3910Ter)
|
rs1215934207
|
|
NM_005529.7(HSPG2):c.1219del (p.Gln407fs)
|
|
|
NM_005529.7(HSPG2):c.12900-2A>G
|
|
|
NM_005529.7(HSPG2):c.13163_13164del (p.Pro4388fs)
|
|
|
NM_005529.7(HSPG2):c.1654+5G>A
|
rs1572356343
|
|
NM_005529.7(HSPG2):c.4740+5G>A
|
rs886039909
|
|
NM_005529.7(HSPG2):c.4955+1G>C
|
rs139944523
|
|
NM_005529.7(HSPG2):c.5296G>A (p.Ala1766Thr)
|
|
|
NM_005529.7(HSPG2):c.9958T>C (p.Cys3320Arg)
|
rs2098038156
|
|
NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)
|
rs1294413650
|
|
NM_005536.4(IMPA1):c.817C>T (p.Arg273Ter)
|
rs1308325707
|
|
NM_005645.4(TAF13):c.204+1G>T
|
rs2102105455
|
|
NM_005687.5(FARSB):c.848+1G>A
|
rs777071414
|
|
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys)
|
rs767956337
|
|
NM_005797.4(MPZL2):c.226-1G>A
|
rs1949708829
|
|
NM_005797.4(MPZL2):c.280C>T (p.Arg94Trp)
|
|
|
NM_005797.4(MPZL2):c.319_320dup (p.Ile108fs)
|
rs2134734280
|
|
NM_005797.4(MPZL2):c.3G>T (p.Met1Ile)
|
|
|
NM_005797.4(MPZL2):c.68del (p.Pro23fs)
|
|
|
NM_005807.6(PRG4):c.2247del (p.Ala750fs)
|
rs1656851989
|
|
NM_005807.6(PRG4):c.23_26dup (p.Leu11fs)
|
|
|
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs)
|
rs769917456
|
|
NM_005807.6(PRG4):c.3462_3465del (p.Thr1155fs)
|
rs768053349
|
|
NM_005807.6(PRG4):c.3735_3736insAG (p.Ala1246fs)
|
rs1657235121
|
|
NM_005807.6(PRG4):c.4029G>A (p.Trp1343Ter)
|
|
|
NM_005807.6(PRG4):c.962T>A (p.Leu321Ter)
|
rs2102020754
|
|
NM_005861.4(STUB1):c.207C>G (p.Cys69Trp)
|
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
NM_005861.4(STUB1):c.469C>T (p.Gln157Ter)
|
rs776620952
|
|
NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del)
|
rs1555475375
|
|
NM_005861.4(STUB1):c.721C>G (p.Arg241Gly)
|
rs760424025
|
|
NM_005861.4(STUB1):c.779A>C (p.His260Pro)
|
rs2151506687
|
|
NM_005866.4(SIGMAR1):c.152-2A>T
|
rs2132329744
|
|
NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys)
|
rs757260058
|
|
NM_005876.5(SPEG):c.2183del (p.Leu728fs)
|
rs1575065895
|
|
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter)
|
rs587777672
|
|
NM_005876.5(SPEG):c.7262_7280dup (p.Ala2428fs)
|
|
|
NM_005876.5(SPEG):c.7795G>T (p.Glu2599Ter)
|
|
|
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs)
|
rs1575201712
|
|
NM_005881.4(BCKDK):c.453C>G (p.Tyr151Ter)
|
rs369521689
|
|
NM_005881.4(BCKDK):c.979C>T (p.Arg327Trp)
|
|
|
NM_005982.4(SIX1):c.316G>T (p.Val106Leu)
|
rs2140241235
|
|
NM_005982.4(SIX1):c.329G>T (p.Arg110Leu)
|
rs1064794308
|
|
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)
|
rs797044960
|
|
NM_005982.4(SIX1):c.397_399del (p.Glu133del)
|
rs80356460
|
|
NM_005982.4(SIX1):c.460A>T (p.Lys154Ter)
|
rs1060499595
|
|
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del)
|
rs781262017
|
|
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del)
|
rs777904670
|
|
NM_006005.3(WFS1):c.1544_1545insA (p.Phe515fs)
|
|
|
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer)
|
rs1560419631
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_006005.3(WFS1):c.2411T>C (p.Leu804Pro)
|
rs1131691778
|
|
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)
|
rs1560422383
|
|
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter)
|
rs764993824
|
|
NM_006012.4(CLPP):c.173T>G (p.Leu58Arg)
|
rs980193170
|
|
NM_006012.4(CLPP):c.233G>C (p.Arg78Pro)
|
rs1599193093
|
|
NM_006012.4(CLPP):c.299T>C (p.Ile100Thr)
|
rs2145048931
|
|
NM_006012.4(CLPP):c.439T>A (p.Cys147Ser)
|
rs2091852209
|
|
NM_006012.4(CLPP):c.484G>A (p.Gly162Ser)
|
|
|
NM_006016.6(CD164):c.574C>T (p.Arg192Ter)
|
rs876661402
|
|
NM_006019.4(TCIRG1):c.1019C>A (p.Ser340Ter)
|
|
|
NM_006019.4(TCIRG1):c.1020+1G>T
|
|
|
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter)
|
rs1159666762
|
|
NM_006019.4(TCIRG1):c.1080_1081del (p.Leu361fs)
|
|
|
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs)
|
rs1269558164
|
|
NM_006019.4(TCIRG1):c.1128del (p.Asp376fs)
|
|
|
NM_006019.4(TCIRG1):c.1158_1159del (p.Asn387fs)
|
|
|
NM_006019.4(TCIRG1):c.117+4A>C
|
rs751881962
|
|
NM_006019.4(TCIRG1):c.117+4A>T
|
rs751881962
|
|
NM_006019.4(TCIRG1):c.117+5G>A
|
rs2134430922
|
|
NM_006019.4(TCIRG1):c.1211del (p.Phe404fs)
|
|
|
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg)
|
rs137853150
|
|
NM_006019.4(TCIRG1):c.1305+2T>C
|
rs1554997818
|
|
NM_006019.4(TCIRG1):c.1306-1G>A
|
rs1554997884
|
|
NM_006019.4(TCIRG1):c.1306-2A>T
|
rs1855570841
|
|
NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs)
|
|
|
NM_006019.4(TCIRG1):c.1346_1351del (p.Leu449_Gly451delinsArg)
|
rs2134455141
|
|
NM_006019.4(TCIRG1):c.1378del (p.Ile460fs)
|
|
|
NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs)
|
rs1554997997
|
|
NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter)
|
|
|
NM_006019.4(TCIRG1):c.1419del (p.Ser474fs)
|
|
|
NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs)
|
rs1554998061
|
|
NM_006019.4(TCIRG1):c.1459del (p.Trp487fs)
|
rs2134455711
|
|
NM_006019.4(TCIRG1):c.1460G>A (p.Trp487Ter)
|
|
|
NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_006019.4(TCIRG1):c.1554+1G>A
|
|
|
NM_006019.4(TCIRG1):c.1554+1G>T
|
rs1439348400
|
|
NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter)
|
rs1057517365
|
|
NM_006019.4(TCIRG1):c.1567del (p.Ala523fs)
|
|
|
NM_006019.4(TCIRG1):c.1664_1667dup (p.His557fs)
|
|
|
NM_006019.4(TCIRG1):c.1673+2T>C
|
|
|
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)
|
rs1855655612
|
|
NM_006019.4(TCIRG1):c.16del (p.Arg6fs)
|
|
|
NM_006019.4(TCIRG1):c.1722del (p.Thr575fs)
|
|
|
NM_006019.4(TCIRG1):c.1782T>A (p.Cys594Ter)
|
|
|
NM_006019.4(TCIRG1):c.1812del (p.Ser605fs)
|
|
|
NM_006019.4(TCIRG1):c.1884del (p.Gln629fs)
|
|
|
NM_006019.4(TCIRG1):c.1887+1G>A
|
|
|
NM_006019.4(TCIRG1):c.1887+1G>C
|
rs1554999205
|
|
NM_006019.4(TCIRG1):c.1888-1G>T
|
rs2134462513
|
|
NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs)
|
rs1554999516
|
|
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)
|
rs1300297240
|
|
NM_006019.4(TCIRG1):c.196+1G>T
|
rs2134432498
|
|
NM_006019.4(TCIRG1):c.1967del (p.Leu656fs)
|
|
|
NM_006019.4(TCIRG1):c.1978del (p.Arg660fs)
|
rs2134462969
|
|
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter)
|
rs1554995009
|
|
NM_006019.4(TCIRG1):c.2088dup (p.Gly697fs)
|
|
|
NM_006019.4(TCIRG1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del)
|
rs780311417
|
|
NM_006019.4(TCIRG1):c.2196del (p.Ser733fs)
|
|
|
NM_006019.4(TCIRG1):c.2321del (p.Val774fs)
|
|
|
NM_006019.4(TCIRG1):c.2324C>G (p.Pro775Arg)
|
|
|
NM_006019.4(TCIRG1):c.2329_2387dup (p.Ala796_Phe797insLeuProProLeuProTer)
|
|
|
NM_006019.4(TCIRG1):c.2377G>C (p.Gly793Arg)
|
|
|
NM_006019.4(TCIRG1):c.2414+1G>T
|
|
|
NM_006019.4(TCIRG1):c.2415-1G>C
|
rs1590819770
|
|
NM_006019.4(TCIRG1):c.2415-2A>G
|
rs1555000376
|
|
NM_006019.4(TCIRG1):c.242del (p.Pro81fs)
|
rs1208311085
|
|
NM_006019.4(TCIRG1):c.2450dup (p.Tyr818fs)
|
rs1590819834
|
|
NM_006019.4(TCIRG1):c.245del (p.Pro82fs)
|
|
|
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs)
|
rs886048594
|
|
NM_006019.4(TCIRG1):c.304del (p.Glu102fs)
|
|
|
NM_006019.4(TCIRG1):c.361C>T (p.Gln121Ter)
|
|
|
NM_006019.4(TCIRG1):c.376C>T (p.Gln126Ter)
|
rs903939170
|
|
NM_006019.4(TCIRG1):c.390del (p.Val131fs)
|
|
|
NM_006019.4(TCIRG1):c.418-1G>C
|
|
|
NM_006019.4(TCIRG1):c.418-21A>G
|
rs1855249165
|
|
NM_006019.4(TCIRG1):c.446C>G (p.Ser149Ter)
|
|
|
NM_006019.4(TCIRG1):c.455_457delinsGG (p.Thr152fs)
|
|
|
NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter)
|
rs1554995330
|
|
NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs)
|
rs1554995350
|
|
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)
|
rs1554995341
|
|
NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter)
|
rs1385741705
|
|
NM_006019.4(TCIRG1):c.503+1G>A
|
rs1554995381
|
|
NM_006019.4(TCIRG1):c.503+5G>A
|
|
|
NM_006019.4(TCIRG1):c.507_513del (p.Phe169fs)
|
|
|
NM_006019.4(TCIRG1):c.523G>T (p.Glu175Ter)
|
rs2134437954
|
|
NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs)
|
rs1554995522
|
|
NM_006019.4(TCIRG1):c.630+1G>T
|
rs1554995582
|
|
NM_006019.4(TCIRG1):c.674del (p.Gly225fs)
|
rs1590804397
|
|
NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs)
|
rs1554995706
|
|
NM_006019.4(TCIRG1):c.702del (p.Ile235fs)
|
|
|
NM_006019.4(TCIRG1):c.713+1G>C
|
rs774308815
|
|
NM_006019.4(TCIRG1):c.713+1G>T
|
rs774308815
|
|
NM_006019.4(TCIRG1):c.723C>A (p.Cys241Ter)
|
|
|
NM_006019.4(TCIRG1):c.745C>T (p.Gln249Ter)
|
|
|
NM_006019.4(TCIRG1):c.751_752insGTATGGGG (p.Glu251fs)
|
|
|
NM_006019.4(TCIRG1):c.766del (p.Ala256fs)
|
|
|
NM_006019.4(TCIRG1):c.772C>T (p.Gln258Ter)
|
|
|
NM_006019.4(TCIRG1):c.807+1G>A
|
|
|
NM_006019.4(TCIRG1):c.807+1G>T
|
rs1458295257
|
|
NM_006019.4(TCIRG1):c.808-2A>C
|
|
|
NM_006019.4(TCIRG1):c.824_825del (p.Glu275fs)
|
rs1182235762
|
|
NM_006019.4(TCIRG1):c.862_866delinsG (p.Leu288fs)
|
rs1855343916
|
|
NM_006019.4(TCIRG1):c.898A>T (p.Lys300Ter)
|
|
|
NM_006019.4(TCIRG1):c.907dup (p.Tyr303fs)
|
rs1855347940
|
|
NM_006019.4(TCIRG1):c.968G>A (p.Trp323Ter)
|
|
|
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs)
|
rs1565156743
|
|
NM_006118.4(HAX1):c.463dup (p.Gln155fs)
|
rs1572018886
|
|
NM_006118.4(HAX1):c.504+1G>A
|
rs2149140065
|
|
NM_006118.4(HAX1):c.54-2A>T
|
rs764765550
|
|
NM_006118.4(HAX1):c.556+1G>A
|
|
|
NM_006118.4(HAX1):c.556+1G>C
|
rs1684901295
|
|
NM_006118.4(HAX1):c.557-1G>A
|
|
|
NM_006118.4(HAX1):c.557-1G>C
|
rs1684904805
|
|
NM_006118.4(HAX1):c.664-1G>T
|
rs2149140690
|
|
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe)
|
rs763922486
|
|
NM_006297.3(XRCC1):c.1015C>T (p.Arg339Ter)
|
|
|
NM_006383.4(CIB2):c.199-1G>A
|
|
|
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp)
|
rs370965183
|
|
NM_006397.3(RNASEH2A):c.127+1G>C
|
|
|
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro)
|
rs373301983
|
|
NM_006397.3(RNASEH2A):c.199+1G>C
|
|
|
NM_006397.3(RNASEH2A):c.200-1G>T
|
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006397.3(RNASEH2A):c.320G>A (p.Gly107Glu)
|
rs2145824951
|
|
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp)
|
rs76436818
|
|
NM_006397.3(RNASEH2A):c.323+1G>A
|
rs1388246689
|
|
NM_006397.3(RNASEH2A):c.549+1G>A
|
|
|
NM_006397.3(RNASEH2A):c.549+1G>T
|
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006397.3(RNASEH2A):c.638-2A>G
|
rs2145830162
|
|
NM_006397.3(RNASEH2A):c.717del (p.Thr240fs)
|
rs1403542725
|
|
NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter)
|
|
|
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)
|
rs80358262
|
|
NM_006432.5(NPC2):c.142C>T (p.Gln48Ter)
|
rs2086712538
|
|
NM_006432.5(NPC2):c.148_149del (p.Ser50fs)
|
|
|
NM_006432.5(NPC2):c.154G>T (p.Gly52Ter)
|
|
|
NM_006432.5(NPC2):c.184_185del (p.Thr62fs)
|
|
|
NM_006432.5(NPC2):c.190+1G>C
|
|
|
NM_006432.5(NPC2):c.191-1G>A
|
|
|
NM_006432.5(NPC2):c.191-1_193del
|
rs1555345873
|
|
NM_006432.5(NPC2):c.1A>G (p.Met1Val)
|
rs1555346369
|
|
NM_006432.5(NPC2):c.218del (p.Val73fs)
|
|
|
NM_006432.5(NPC2):c.249_250insAATTCCA (p.Pro84fs)
|
|
|
NM_006432.5(NPC2):c.279dup (p.Lys94Ter)
|
rs1376058648
|
|
NM_006432.5(NPC2):c.297C>A (p.Cys99Ter)
|
rs2086687936
|
|
NM_006432.5(NPC2):c.297C>G (p.Cys99Trp)
|
rs2086687936
|
|
NM_006432.5(NPC2):c.2T>C (p.Met1Thr)
|
rs1555346368
|
|
NM_006432.5(NPC2):c.304C>T (p.Gln102Ter)
|
rs2086687862
|
|
NM_006432.5(NPC2):c.334A>T (p.Lys112Ter)
|
rs2086687425
|
|
NM_006432.5(NPC2):c.336_339delinsCTT (p.Lys112fs)
|
|
|
NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter)
|
rs2086687086
|
|
NM_006432.5(NPC2):c.358C>A (p.Pro120Thr)
|
|
|
NM_006432.5(NPC2):c.363+1G>A
|
|
|
NM_006432.5(NPC2):c.364-2A>G
|
rs777654308
|
|
NM_006432.5(NPC2):c.3G>A (p.Met1Ile)
|
rs483352893
|
|
NM_006432.5(NPC2):c.3G>C (p.Met1Ile)
|
rs483352893
|
|
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter)
|
rs1555345616
|
|
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter)
|
rs104894457
|
|
NM_006432.5(NPC2):c.64_65delinsCTCACC (p.Val22fs)
|
|
|
NM_006432.5(NPC2):c.67C>T (p.Gln23Ter)
|
|
|
NM_006432.5(NPC2):c.91del (p.Asp31fs)
|
|
|
NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)
|
|
|
NM_006618.5(KDM5B):c.2945+1G>A
|
rs2102232815
|
|
NM_006618.5(KDM5B):c.3224del (p.Asn1075fs)
|
|
|
NM_006618.5(KDM5B):c.3309_3312del (p.Arg1103fs)
|
|
|
NM_006618.5(KDM5B):c.3635del (p.Gly1212fs)
|
|
|
NM_006618.5(KDM5B):c.3652dup (p.Cys1218fs)
|
rs1572705473
|
|
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter)
|
rs1558478047
|
|
NM_006618.5(KDM5B):c.418G>T (p.Glu140Ter)
|
|
|
NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)
|
|
|
NM_006642.3:c.1069_1356del
|
|
|
NM_006642.5(SDCCAG8):c.1068+1G>A
|
|
|
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter)
|
rs770084716
|
|
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)
|
rs964673995
|
|
NM_006642.5(SDCCAG8):c.1356+1G>C
|
rs2147782314
|
|
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)
|
rs397515335
|
|
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs)
|
rs1390963789
|
|
NM_006642.5(SDCCAG8):c.1617-1G>A
|
|
|
NM_006642.5(SDCCAG8):c.1748del (p.Asn583fs)
|
|
|
NM_006642.5(SDCCAG8):c.1853+1G>A
|
rs1573930690
|
|
NM_006642.5(SDCCAG8):c.1853+2T>A
|
|
|
NM_006642.5(SDCCAG8):c.1853+2T>C
|
|
|
NM_006642.5(SDCCAG8):c.221-1G>A
|
rs2068036602
|
|
NM_006642.5(SDCCAG8):c.420+1G>C
|
|
|
NM_006642.5(SDCCAG8):c.547-1G>A
|
rs2070433656
|
|
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)
|
rs797045948
|
|
NM_006642.5(SDCCAG8):c.865_872dup (p.Val292fs)
|
|
|
NM_006721.4(ADK):c.1031C>T (p.Ala344Val)
|
rs1589387419
|
|
NM_006721.4(ADK):c.642_645del (p.Ser215fs)
|
|
|
NM_006721.4(ADK):c.813dup (p.Asn272fs)
|
rs1589286482
|
|
NM_006721.4(ADK):c.916C>T (p.Gln306Ter)
|
|
|
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)
|
rs730882140
|
|
NM_006736.6(DNAJB2):c.310del (p.Arg104fs)
|
rs879253868
|
|
NM_006736.6(DNAJB2):c.353-1G>C
|
|
|
NM_006736.6(DNAJB2):c.445+1G>A
|
|
|
NM_006736.6(DNAJB2):c.446-1G>A
|
rs2125082935
|
|
NM_006736.6(DNAJB2):c.446-2A>G
|
rs758322672
|
|
NM_006736.6(DNAJB2):c.65+1G>A
|
|
|
NM_006736.6(DNAJB2):c.757G>A (p.Glu253Lys)
|
rs1018405924
|
|
NM_006765.4(TUSC3):c.119dup (p.Gly41fs)
|
|
|
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
|
|
|
NM_006765.4(TUSC3):c.568-2A>G
|
rs2129179995
|
|
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)
|
rs1131692154
|
|
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter)
|
rs140609531
|
|
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)
|
|
|
NM_006796.3(AFG3L2):c.1951A>G (p.Arg651Gly)
|
rs764254189
|
|
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
|
rs151344514
|
|
NM_006846.4(SPINK5):c.1280del (p.Ser427fs)
|
rs1753640069
|
|
NM_006846.4(SPINK5):c.1430+1G>T
|
rs1309309448
|
|
NM_006846.4(SPINK5):c.1431-12G>A
|
rs368134354
|
|
NM_006846.4(SPINK5):c.1480-2A>G
|
rs773865874
|
|
NM_006846.4(SPINK5):c.2015+1G>T
|
|
|
NM_006846.4(SPINK5):c.209+1G>A
|
rs1752708600
|
|
NM_006846.4(SPINK5):c.210-2A>C
|
|
|
NM_006846.4(SPINK5):c.2113-2A>G
|
|
|
NM_006846.4(SPINK5):c.2264del (p.Asn755fs)
|
|
|
NM_006846.4(SPINK5):c.2441+3_2441+6del
|
rs1221030255
|
|
NM_006846.4(SPINK5):c.2739+1G>T
|
|
|
NM_006846.4(SPINK5):c.2965-1G>A
|
|
|
NM_006846.4(SPINK5):c.3095+2T>C
|
|
|
NM_006846.4(SPINK5):c.602+1G>T
|
|
|
NM_006846.4(SPINK5):c.715dup (p.Cys239fs)
|
|
|
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs)
|
rs761490126
|
|
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser)
|
rs150736372
|
|
NM_006892.4(DNMT3B):c.1996+2T>A
|
|
|
NM_006892.4(DNMT3B):c.2009G>A (p.Arg670Gln)
|
|
|
NM_006892.4(DNMT3B):c.2146-1G>C
|
|
|
NM_006892.4(DNMT3B):c.2296G>C (p.Ala766Pro)
|
|
|
NM_006892.4(DNMT3B):c.2441A>G (p.His814Arg)
|
|
|
NM_006892.4(DNMT3B):c.2467C>G (p.Arg823Gly)
|
rs2146098171
|
|
NM_006892.4(DNMT3B):c.433-2A>G
|
|
|
NM_006892.4(DNMT3B):c.654+1G>C
|
|
|
NM_006895.3(HNMT):c.475del (p.His159fs)
|
rs765863580
|
|
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro)
|
rs745756308
|
|
NM_006907.4(PYCR1):c.219_220dup (p.Ile74fs)
|
rs2041157497
|
|
NM_006907.4(PYCR1):c.386_387insCGCA (p.Glu130fs)
|
|
|
NM_006907.4(PYCR1):c.540+1G>T
|
rs752297179
|
|
NM_006907.4(PYCR1):c.556G>T (p.Asp186Tyr)
|
rs2143872369
|
|
NM_006915.3(RP2):c.102G>A (p.Lys34=)
|
rs1556313552
|
|
NM_006946.4(SPTBN2):c.2330dup (p.His777fs)
|
|
|
NM_006946.4(SPTBN2):c.3475C>T (p.Arg1159Ter)
|
|
|
NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val)
|
rs1940755126
|
|
NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)
|
|
|
NM_006984.5(CLDN10):c.653del (p.Pro218fs)
|
rs2043960821
|
|
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu)
|
|
|
NM_006996.3(SLC19A2):c.807+2T>G
|
rs1234256852
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
|
|
NM_007248.3(TREX1):c.1033_1050del
|
rs1575295176
|
|
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter)
|
rs982113263
|
|
NM_012205.3(HAAO):c.243+1G>A
|
rs1232096291
|
|
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu)
|
rs376177973
|
|
NM_012208.4(HARS2):c.1273C>T (p.Arg425Trp)
|
|
|
NM_012208.4(HARS2):c.137T>A (p.Leu46Gln)
|
rs1562047621
|
|
NM_012208.4(HARS2):c.1403G>C (p.Gly468Ala)
|
rs748402163
|
|
NM_012208.4(HARS2):c.399+1G>A
|
rs2149852789
|
|
NM_012208.4(HARS2):c.980G>A (p.Arg327Gln)
|
rs778499309
|
|
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs)
|
rs1564217246
|
|
NM_012210.4(TRIM32):c.1560del (p.Cys521fs)
|
rs1588218453
|
|
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)
|
rs749696299
|
|
NM_012210.4(TRIM32):c.722A>G (p.Tyr241Cys)
|
|
|
NM_012210.4(TRIM32):c.73G>T (p.Glu25Ter)
|
|
|
NM_012210.4(TRIM32):c.865_866insG (p.Leu289fs)
|
|
|
NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter)
|
rs2104943498
|
|
NM_012233.3(RAB3GAP1):c.2290-17_2290del
|
|
|
NM_012233.3(RAB3GAP1):c.2393_2394del (p.Leu798fs)
|
|
|
NM_012233.3(RAB3GAP1):c.297del (p.Gln99fs)
|
rs2104879312
|
|
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter)
|
rs1553444644
|
|
NM_012233.3(RAB3GAP1):c.540dup (p.Cys181fs)
|
|
|
NM_012414.4(RAB3GAP2):c.1040+1G>T
|
|
|
NM_012414.4(RAB3GAP2):c.1201del (p.Ala400_Val401insTer)
|
|
|
NM_012414.4(RAB3GAP2):c.1715-1G>A
|
|
|
NM_012448.4(STAT5B):c.1102del (p.Gln368fs)
|
rs761761205
|
|
NM_012448.4(STAT5B):c.1681-2A>G
|
|
|
NM_012448.4(STAT5B):c.1906+1G>A
|
rs750399917
|
|
NM_012463.4(ATP6V0A2):c.16_19del (p.Arg6fs)
|
|
|
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs)
|
rs80356756
|
|
NM_012478.4(WBP2):c.161C>G (p.Pro54Arg)
|
rs770968991
|
|
NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu)
|
rs755804651
|
|
NM_013322.3(SNX10):c.302del (p.Phe101fs)
|
|
|
NM_013335.4(GMPPA):c.382G>T (p.Glu128Ter)
|
rs2125629897
|
|
NM_013382.5(POMT2):c.[1170_1171delTA];[1261C>T]
|
|
|
NM_013382.7(POMT2):c.1254-2A>G
|
|
|
NM_013382.7(POMT2):c.1329_1332+5del
|
rs1566648219
|
|
NM_013382.7(POMT2):c.1484+1G>A
|
|
|
NM_013382.7(POMT2):c.1654-2A>T
|
|
|
NM_013382.7(POMT2):c.1726-1dup
|
rs1229291913
|
|
NM_013382.7(POMT2):c.1738T>C (p.Ser580Pro)
|
rs370529777
|
|
NM_013382.7(POMT2):c.1891+1G>C
|
|
|
NM_013382.7(POMT2):c.1891+2T>C
|
rs1594884932
|
|
NM_013382.7(POMT2):c.1892-1G>C
|
|
|
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu)
|
rs794727228
|
|
NM_013382.7(POMT2):c.2032+1G>A
|
rs2140161850
|
|
NM_013382.7(POMT2):c.2159del (p.Phe720fs)
|
rs1890013661
|
|
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg)
|
rs267606964
|
|
NM_013382.7(POMT2):c.333+1G>T
|
|
|
NM_013382.7(POMT2):c.548-2A>G
|
|
|
NM_013382.7(POMT2):c.656+1G>A
|
|
|
NM_013382.7(POMT2):c.785G>A (p.Trp262Ter)
|
|
|
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
|
|
|
NM_014009.4(FOXP3):c.648-2A>G
|
rs2147947553
|
|
NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)
|
|
|
NM_014053.4(FLVCR1):c.375G>A (p.Trp125Ter)
|
|
|
NM_014053.4(FLVCR1):c.755del (p.Gly252fs)
|
rs773064101
|
|
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC
|
|
|
NM_014168.4(METTL5):c.541+1G>C
|
rs1467526653
|
|
NM_014264.5(PLK4):c.1177_1181del (p.Thr393fs)
|
|
|
NM_014264.5(PLK4):c.2562+1G>C
|
rs1473460404
|
|
NM_014321.4(ORC6):c.360-1G>T
|
|
|
NM_014336.4:c.(?_-1)_(276+1_277-1)del
|
|
|
NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter)
|
rs1208703297
|
|
NM_014363.5(SACS):c.[11624G>A];[7276C>T]
|
|
|
NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs)
|
rs1555250395
|
|
NM_014363.6(SACS):c.10050del (p.His3351fs)
|
rs1555250383
|
|
NM_014363.6(SACS):c.10055_10056del (p.Thr3352fs)
|
|
|
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter)
|
rs1555250359
|
|
NM_014363.6(SACS):c.10090del (p.Ala3364fs)
|
rs1057517383
|
|
NM_014363.6(SACS):c.10103_10104insTATAGATT (p.Met3368fs)
|
rs2137577962
|
|
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs)
|
rs1555250255
|
|
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)
|
rs786204416
|
|
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)
|
rs755186798
|
|
NM_014363.6(SACS):c.10501_10505del (p.Leu3500_Lys3501insTer)
|
rs1555250191
|
|
NM_014363.6(SACS):c.10536_10537del (p.Glu3512fs)
|
|
|
NM_014363.6(SACS):c.10536del (p.Ile3513fs)
|
rs1555250183
|
|
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter)
|
rs1593123432
|
|
NM_014363.6(SACS):c.10645G>T (p.Glu3549Ter)
|
|
|
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)
|
rs779338945
|
|
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)
|
rs1057517002
|
|
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs)
|
rs1555250082
|
|
NM_014363.6(SACS):c.10854del (p.Glu3619fs)
|
rs1057516773
|
|
NM_014363.6(SACS):c.1085del (p.Lys362fs)
|
rs1057517242
|
|
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter)
|
rs1057516578
|
|
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
|
|
|
NM_014363.6(SACS):c.10944_10947dup (p.Leu3650fs)
|
|
|
NM_014363.6(SACS):c.10993_11002dup (p.Pro3668fs)
|
rs1555250022
|
|
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs)
|
rs1555250016
|
|
NM_014363.6(SACS):c.11042dup (p.Phe3682fs)
|
rs756597098
|
|
NM_014363.6(SACS):c.1105_1106del (p.Thr369fs)
|
|
|
NM_014363.6(SACS):c.11081dup (p.Cys3694fs)
|
rs1057516856
|
|
NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter)
|
rs1883571494
|
|
NM_014363.6(SACS):c.11100dup (p.Trp3701fs)
|
rs1883571351
|
|
NM_014363.6(SACS):c.11109del (p.Cys3704fs)
|
rs2137569412
|
|
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer)
|
rs2137569225
|
|
NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs)
|
rs1555249977
|
|
NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter)
|
rs1555249966
|
|
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter)
|
rs1057516398
|
|
NM_014363.6(SACS):c.11191del (p.Glu3731fs)
|
|
|
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs)
|
rs753205260
|
|
NM_014363.6(SACS):c.11261del (p.Asn3754fs)
|
|
|
NM_014363.6(SACS):c.1126_1127del (p.Asn376fs)
|
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
|
|
NM_014363.6(SACS):c.11282del (p.Leu3761fs)
|
rs2137567996
|
|
NM_014363.6(SACS):c.11286_11287del (p.Asp3762fs)
|
|
|
NM_014363.6(SACS):c.11302del (p.Thr3768fs)
|
|
|
NM_014363.6(SACS):c.11361dup (p.Arg3788fs)
|
|
|
NM_014363.6(SACS):c.11373dup (p.Arg3792fs)
|
rs1555249904
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.1137dup (p.Glu380fs)
|
rs1057516987
|
|
NM_014363.6(SACS):c.11406_11409del (p.Trp3803fs)
|
|
|
NM_014363.6(SACS):c.11428dup (p.Glu3810fs)
|
rs1555249894
|
|
NM_014363.6(SACS):c.11506_11521del (p.His3836fs)
|
rs1555249878
|
|
NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter)
|
rs1555249881
|
|
NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs)
|
rs1555249826
|
|
NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)
|
|
|
NM_014363.6(SACS):c.11713del (p.Ala3906fs)
|
rs1555249797
|
|
NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter)
|
rs745740932
|
|
NM_014363.6(SACS):c.11731del (p.Ser3911fs)
|
rs1057517232
|
|
NM_014363.6(SACS):c.11772dup (p.Asp3925Ter)
|
rs1555249789
|
|
NM_014363.6(SACS):c.1178T>A (p.Leu393Ter)
|
|
|
NM_014363.6(SACS):c.11877dup (p.Lys3960Ter)
|
rs1555249766
|
|
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)
|
rs781491486
|
|
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter)
|
rs1555249745
|
|
NM_014363.6(SACS):c.11946del (p.Asp3983fs)
|
|
|
NM_014363.6(SACS):c.12011_12019del (p.Leu4004_Leu4006del)
|
rs2137561854
|
|
NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer)
|
rs1555249695
|
|
NM_014363.6(SACS):c.12147C>A (p.Cys4049Ter)
|
|
|
NM_014363.6(SACS):c.12150del (p.Phe4050fs)
|
rs1555249662
|
|
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs)
|
rs1555249648
|
|
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.1229T>A (p.Leu410Ter)
|
|
|
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter)
|
rs1555249633
|
|
NM_014363.6(SACS):c.12373G>T (p.Gly4125Ter)
|
|
|
NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter)
|
|
|
NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs)
|
rs1555249607
|
|
NM_014363.6(SACS):c.12434_12435del (p.Ser4145fs)
|
rs1555249599
|
|
NM_014363.6(SACS):c.12471dup (p.Thr4158fs)
|
|
|
NM_014363.6(SACS):c.12523_12541del (p.Val4175fs)
|
|
|
NM_014363.6(SACS):c.12540del (p.Glu4180fs)
|
rs1057516347
|
|
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)
|
rs1555249555
|
|
NM_014363.6(SACS):c.12707_12708del (p.Ile4236fs)
|
|
|
NM_014363.6(SACS):c.12766del (p.Asp4256fs)
|
rs1555249479
|
|
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs)
|
rs1057516406
|
|
NM_014363.6(SACS):c.12770_12917del (p.Ser4257fs)
|
|
|
NM_014363.6(SACS):c.12779del (p.Ser4260fs)
|
rs1555249460
|
|
NM_014363.6(SACS):c.12795_12798del (p.Thr4266fs)
|
|
|
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)
|
rs1555249425
|
|
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)
|
rs786204628
|
|
NM_014363.6(SACS):c.12860del (p.Lys4287fs)
|
|
|
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)
|
rs1057517294
|
|
NM_014363.6(SACS):c.12980del (p.Lys4327fs)
|
rs1555249371
|
|
NM_014363.6(SACS):c.13112dup (p.Asn4371fs)
|
|
|
NM_014363.6(SACS):c.13120_13121del (p.Arg4374fs)
|
rs1555249338
|
|
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)
|
rs747868017
|
|
NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs)
|
rs1555249326
|
|
NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs)
|
rs1883405453
|
|
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter)
|
rs1555249276
|
|
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)
|
rs1057517123
|
|
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter)
|
rs753277514
|
|
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
|
|
|
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro)
|
rs745961541
|
|
NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter)
|
|
|
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)
|
rs927804920
|
|
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)
|
rs1555249106
|
|
NM_014363.6(SACS):c.1437G>A (p.Trp479Ter)
|
|
|
NM_014363.6(SACS):c.1455G>A (p.Trp485Ter)
|
|
|
NM_014363.6(SACS):c.155G>A (p.Trp52Ter)
|
|
|
NM_014363.6(SACS):c.1569_1570delinsCTGTCTCTTATACACA (p.Phe524fs)
|
|
|
NM_014363.6(SACS):c.1596T>A (p.Tyr532Ter)
|
rs2137720760
|
|
NM_014363.6(SACS):c.1636C>T (p.Gln546Ter)
|
|
|
NM_014363.6(SACS):c.1681del (p.Ala560_Val561insTer)
|
rs1057516543
|
|
NM_014363.6(SACS):c.171+1G>A
|
|
|
NM_014363.6(SACS):c.1716_1717del (p.Glu573fs)
|
|
|
NM_014363.6(SACS):c.172-2A>G
|
|
|
NM_014363.6(SACS):c.1807A>T (p.Lys603Ter)
|
|
|
NM_014363.6(SACS):c.1814C>T (p.Pro605Leu)
|
rs2137718533
|
|
NM_014363.6(SACS):c.1839_1840insGCGTCACCTTC (p.Leu614fs)
|
|
|
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
|
|
|
NM_014363.6(SACS):c.1929T>A (p.Cys643Ter)
|
|
|
NM_014363.6(SACS):c.192_193delinsA (p.Gly65fs)
|
|
|
NM_014363.6(SACS):c.1965_1966del (p.Leu655_Ser656insTer)
|
|
|
NM_014363.6(SACS):c.1968_1969del (p.Asp657fs)
|
|
|
NM_014363.6(SACS):c.2076del (p.Ser693fs)
|
rs1057516224
|
|
NM_014363.6(SACS):c.2176C>T (p.Gln726Ter)
|
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.2185+1G>T
|
|
|
NM_014363.6(SACS):c.2186-2A>G
|
rs1057516554
|
|
NM_014363.6(SACS):c.2189_2190delinsT (p.Arg730fs)
|
|
|
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter)
|
rs1057517285
|
|
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter)
|
rs1555252953
|
|
NM_014363.6(SACS):c.2291G>A (p.Trp764Ter)
|
|
|
NM_014363.6(SACS):c.2329dup (p.Ser777fs)
|
rs1555252944
|
|
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter)
|
rs1057517437
|
|
NM_014363.6(SACS):c.2396_2399dup (p.Met800fs)
|
|
|
NM_014363.6(SACS):c.239C>G (p.Ser80Ter)
|
|
|
NM_014363.6(SACS):c.23G>A (p.Trp8Ter)
|
rs1871684539
|
|
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter)
|
rs1555252929
|
|
NM_014363.6(SACS):c.2438_2439del (p.Thr813fs)
|
rs1555252928
|
|
NM_014363.6(SACS):c.2451_2452insT (p.Ile818fs)
|
rs1555252926
|
|
NM_014363.6(SACS):c.2503C>T (p.Gln835Ter)
|
|
|
NM_014363.6(SACS):c.2533C>T (p.Gln845Ter)
|
rs1555252876
|
|
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter)
|
rs142037771
|
|
NM_014363.6(SACS):c.257del (p.Gly86fs)
|
|
|
NM_014363.6(SACS):c.25_27delinsTT (p.Val9fs)
|
|
|
NM_014363.6(SACS):c.2620del (p.Ser874fs)
|
|
|
NM_014363.6(SACS):c.2627_2631del (p.Val876fs)
|
rs1555252844
|
|
NM_014363.6(SACS):c.2629_2630dup (p.Leu877fs)
|
rs1057516829
|
|
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)
|
rs1555255676
|
|
NM_014363.6(SACS):c.2630T>A (p.Leu877Ter)
|
|
|
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs)
|
rs1167474602
|
|
NM_014363.6(SACS):c.2829dup (p.Leu944fs)
|
rs1869162207
|
|
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter)
|
rs1555252786
|
|
NM_014363.6(SACS):c.2870del (p.Pro957fs)
|
rs1057516624
|
|
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs)
|
rs1326359185
|
|
NM_014363.6(SACS):c.2913_2914dup (p.Glu972fs)
|
rs1057517034
|
|
NM_014363.6(SACS):c.2987T>G (p.Leu996Ter)
|
rs1450257625
|
|
NM_014363.6(SACS):c.29del (p.Pro10fs)
|
rs1057516837
|
|
NM_014363.6(SACS):c.2T>C (p.Met1Thr)
|
rs1417057515
|
|
NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)
|
|
|
NM_014363.6(SACS):c.3159_3160del (p.Leu1053_Phe1054insTer)
|
rs2137637877
|
|
NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs)
|
rs1057516551
|
|
NM_014363.6(SACS):c.3218dup (p.Pro1075fs)
|
|
|
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)
|
rs770866403
|
|
NM_014363.6(SACS):c.3356del (p.Pro1119fs)
|
rs1057517039
|
|
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)
|
rs144267558
|
|
NM_014363.6(SACS):c.343A>T (p.Lys115Ter)
|
|
|
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter)
|
rs1555252634
|
|
NM_014363.6(SACS):c.351_354del (p.Leu117fs)
|
|
|
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs)
|
rs1555252623
|
|
NM_014363.6(SACS):c.3556dup (p.Met1186fs)
|
rs1555252611
|
|
NM_014363.6(SACS):c.3557del (p.Met1186fs)
|
|
|
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro)
|
rs727503785
|
|
NM_014363.6(SACS):c.3633del (p.Ala1212fs)
|
rs1555252587
|
|
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter)
|
rs959856535
|
|
NM_014363.6(SACS):c.3684dup (p.Lys1229Ter)
|
|
|
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
|
rs757179309
|
|
NM_014363.6(SACS):c.3831_3832dup (p.Val1278fs)
|
rs1555252545
|
|
NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter)
|
rs756963289
|
|
NM_014363.6(SACS):c.388A>T (p.Lys130Ter)
|
|
|
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter)
|
rs1555252531
|
|
NM_014363.6(SACS):c.3946C>T (p.Gln1316Ter)
|
|
|
NM_014363.6(SACS):c.3978_3982del (p.Glu1326fs)
|
rs1555252518
|
|
NM_014363.6(SACS):c.4039del (p.Leu1347fs)
|
rs1057516222
|
|
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter)
|
rs1057516779
|
|
NM_014363.6(SACS):c.4168del (p.Ile1391fs)
|
rs1555252465
|
|
NM_014363.6(SACS):c.4199_4200insAACATTAATGTTTAATG (p.Tyr1400Ter)
|
rs1555252458
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
NM_014363.6(SACS):c.4233dup (p.Leu1412fs)
|
rs1555252448
|
|
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter)
|
rs1057516930
|
|
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)
|
rs768209419
|
|
NM_014363.6(SACS):c.4385dup (p.Arg1463fs)
|
rs1555252388
|
|
NM_014363.6(SACS):c.4424C>A (p.Ser1475Ter)
|
|
|
NM_014363.6(SACS):c.4438G>T (p.Glu1480Ter)
|
|
|
NM_014363.6(SACS):c.4465_4471del (p.Asn1489fs)
|
rs1057516294
|
|
NM_014363.6(SACS):c.4495dup (p.Met1499fs)
|
rs1555252359
|
|
NM_014363.6(SACS):c.4521_4522del (p.Asn1508fs)
|
|
|
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs)
|
rs1555252349
|
|
NM_014363.6(SACS):c.4593dup (p.Asp1532fs)
|
rs780197970
|
|
NM_014363.6(SACS):c.4684del (p.Ser1562fs)
|
rs1275667662
|
|
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs)
|
rs1057516820
|
|
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)
|
rs1444216187
|
|
NM_014363.6(SACS):c.4716del (p.Ile1572_Met1573insTer)
|
|
|
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
|
|
|
NM_014363.6(SACS):c.4730dup (p.Met1578fs)
|
|
|
NM_014363.6(SACS):c.475T>G (p.Tyr159Asp)
|
rs1305721973
|
|
NM_014363.6(SACS):c.4760A>G (p.His1587Arg)
|
|
|
NM_014363.6(SACS):c.4760del (p.His1587fs)
|
rs1057516285
|
|
NM_014363.6(SACS):c.4762_4763del (p.Ile1588fs)
|
|
|
NM_014363.6(SACS):c.4783_4787del (p.Lys1595fs)
|
|
|
NM_014363.6(SACS):c.4811G>A (p.Trp1604Ter)
|
|
|
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs)
|
rs757872635
|
|
NM_014363.6(SACS):c.4884del (p.Gln1628fs)
|
|
|
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer)
|
rs1057516580
|
|
NM_014363.6(SACS):c.4934G>C (p.Arg1645Pro)
|
|
|
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)
|
|
|
NM_014363.6(SACS):c.497del (p.Pro166fs)
|
|
|
NM_014363.6(SACS):c.5008_5010delinsGTAGATGAATATCTACAATTGTGGATTGTATTTAG (p.Tyr1670fs)
|
|
|
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter)
|
rs1459899547
|
|
NM_014363.6(SACS):c.5037_5038del (p.Cys1679fs)
|
rs1868917066
|
|
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs)
|
rs1372213267
|
|
NM_014363.6(SACS):c.5073_5074dup (p.Ser1692fs)
|
rs1057517305
|
|
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter)
|
rs1555252184
|
|
NM_014363.6(SACS):c.5195del (p.Val1731_Leu1732insTer)
|
|
|
NM_014363.6(SACS):c.520G>T (p.Glu174Ter)
|
rs2137742889
|
|
NM_014363.6(SACS):c.5238dup (p.Lys1747Ter)
|
rs1555252148
|
|
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter)
|
rs1555252142
|
|
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
|
|
|
NM_014363.6(SACS):c.529A>T (p.Arg177Ter)
|
|
|
NM_014363.6(SACS):c.5379del (p.Phe1793fs)
|
rs1057517297
|
|
NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter)
|
|
|
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
|
|
|
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter)
|
rs1555252113
|
|
NM_014363.6(SACS):c.542del (p.Lys181fs)
|
|
|
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)
|
rs1566067485
|
|
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter)
|
rs1057517172
|
|
NM_014363.6(SACS):c.5492del (p.Lys1831fs)
|
rs1868862742
|
|
NM_014363.6(SACS):c.5515A>T (p.Arg1839Ter)
|
|
|
NM_014363.6(SACS):c.554_555del (p.Leu185fs)
|
|
|
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs)
|
rs1555252086
|
|
NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs)
|
rs1188844823
|
|
NM_014363.6(SACS):c.563_564del (p.Gly188fs)
|
|
|
NM_014363.6(SACS):c.5692G>T (p.Glu1898Ter)
|
rs2137616679
|
|
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs)
|
rs1593129673
|
|
NM_014363.6(SACS):c.5719del (p.Arg1907fs)
|
rs1555252055
|
|
NM_014363.6(SACS):c.5744_5745del (p.His1915fs)
|
rs1057517138
|
|
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs)
|
rs759166250
|
|
NM_014363.6(SACS):c.5784dup (p.Arg1929fs)
|
rs1057517099
|
|
NM_014363.6(SACS):c.579del (p.Phe194fs)
|
|
|
NM_014363.6(SACS):c.5809dup (p.Leu1937fs)
|
|
|
NM_014363.6(SACS):c.5919del (p.Glu1974fs)
|
rs1555251990
|
|
NM_014363.6(SACS):c.5972dup (p.Arg1992fs)
|
rs2137613912
|
|
NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs)
|
rs1555251963
|
|
NM_014363.6(SACS):c.6001dup (p.Arg2001fs)
|
rs1555251960
|
|
NM_014363.6(SACS):c.604+1G>A
|
rs1555254734
|
|
NM_014363.6(SACS):c.604+1_604+4del
|
|
|
NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)
|
|
|
NM_014363.6(SACS):c.605-1G>A
|
rs1555254489
|
|
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter)
|
rs1555251944
|
|
NM_014363.6(SACS):c.6068del (p.Asn2023fs)
|
rs1555251935
|
|
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter)
|
rs1408290451
|
|
NM_014363.6(SACS):c.6163del (p.Gln2055fs)
|
rs1555251905
|
|
NM_014363.6(SACS):c.6172del (p.Ser2058fs)
|
rs1214399996
|
|
NM_014363.6(SACS):c.6186dup (p.Pro2063fs)
|
rs2137611917
|
|
NM_014363.6(SACS):c.6221del (p.Asp2074fs)
|
rs1057517366
|
|
NM_014363.6(SACS):c.622_640del (p.Ser208fs)
|
|
|
NM_014363.6(SACS):c.6282del (p.Thr2095fs)
|
rs1555251853
|
|
NM_014363.6(SACS):c.6290del (p.Cys2097fs)
|
rs1868755540
|
|
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs)
|
rs1555251840
|
|
NM_014363.6(SACS):c.6320del (p.Leu2107fs)
|
rs1057516295
|
|
NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs)
|
rs1555251818
|
|
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter)
|
rs201690040
|
|
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs)
|
rs1057516635
|
|
NM_014363.6(SACS):c.654del (p.Gln219fs)
|
|
|
NM_014363.6(SACS):c.6663del (p.Lys2221fs)
|
rs1555251699
|
|
NM_014363.6(SACS):c.6757dup (p.Ile2253fs)
|
rs1057516932
|
|
NM_014363.6(SACS):c.6767_6794del (p.Leu2256fs)
|
rs2137606577
|
|
NM_014363.6(SACS):c.6804del (p.Phe2268fs)
|
rs1057517301
|
|
NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)
|
|
|
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter)
|
rs1555251615
|
|
NM_014363.6(SACS):c.699del (p.Asp235fs)
|
rs1415870785
|
|
NM_014363.6(SACS):c.7080_7084del (p.His2362fs)
|
rs1294102415
|
|
NM_014363.6(SACS):c.708del (p.Asp236fs)
|
|
|
NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter)
|
rs1555251553
|
|
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs)
|
rs1057517222
|
|
NM_014363.6(SACS):c.7139del (p.Asn2380fs)
|
rs1057516689
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.7221_7224dup (p.Gln2409Ter)
|
rs1555251514
|
|
NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter)
|
rs2137602382
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter)
|
rs747676277
|
|
NM_014363.6(SACS):c.7418_7419delinsTTT (p.Trp2473fs)
|
rs1555251428
|
|
NM_014363.6(SACS):c.742_743del (p.Ala248fs)
|
|
|
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer)
|
rs1555251421
|
|
NM_014363.6(SACS):c.7494_7504del (p.Val2499fs)
|
rs1057517451
|
|
NM_014363.6(SACS):c.7499dup (p.Arg2502fs)
|
|
|
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs)
|
rs1057516438
|
|
NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter)
|
rs140034972
|
|
NM_014363.6(SACS):c.7576_7579del (p.Glu2526fs)
|
rs2137599071
|
|
NM_014363.6(SACS):c.7634del (p.Met2545fs)
|
|
|
NM_014363.6(SACS):c.7788del (p.Phe2596fs)
|
rs1057516959
|
|
NM_014363.6(SACS):c.7844del (p.Asn2615fs)
|
rs758572409
|
|
NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter)
|
rs1057517014
|
|
NM_014363.6(SACS):c.7868del (p.Gly2623fs)
|
rs1555251301
|
|
NM_014363.6(SACS):c.7903del (p.Cys2635fs)
|
rs1028098148
|
|
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val)
|
rs1060499656
|
|
NM_014363.6(SACS):c.8009del (p.Leu2670fs)
|
rs1555251254
|
|
NM_014363.6(SACS):c.8009dup (p.Leu2670fs)
|
|
|
NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter)
|
rs1555251241
|
|
NM_014363.6(SACS):c.8070del (p.Phe2690fs)
|
|
|
NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)
|
|
|
NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys)
|
rs780332615
|
|
NM_014363.6(SACS):c.8148del (p.Pro2717fs)
|
|
|
NM_014363.6(SACS):c.815G>A (p.Arg272His)
|
rs745907077
|
|
NM_014363.6(SACS):c.8221del (p.Asn2742fs)
|
rs1555251151
|
|
NM_014363.6(SACS):c.8305dup (p.Ile2769fs)
|
rs1279988199
|
|
NM_014363.6(SACS):c.832C>T (p.Gln278Ter)
|
rs1555254439
|
|
NM_014363.6(SACS):c.8340del (p.His2781fs)
|
rs753958013
|
|
NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs)
|
|
|
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter)
|
rs1240368715
|
|
NM_014363.6(SACS):c.8404_8407del (p.Ile2802fs)
|
|
|
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter)
|
rs1555251015
|
|
NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs)
|
rs1555251007
|
|
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs)
|
rs876657721
|
|
NM_014363.6(SACS):c.8574_8577del (p.His2859fs)
|
rs1555250991
|
|
NM_014363.6(SACS):c.8589dup (p.Pro2864fs)
|
rs1555250987
|
|
NM_014363.6(SACS):c.8612dup (p.Leu2871fs)
|
rs1057517212
|
|
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)
|
rs753012964
|
|
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter)
|
rs1555250949
|
|
NM_014363.6(SACS):c.8733_8734del (p.Asn2911fs)
|
rs1057517020
|
|
NM_014363.6(SACS):c.8765_8766del (p.Tyr2922fs)
|
|
|
NM_014363.6(SACS):c.8790_8793del (p.Lys2930fs)
|
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8807del (p.Gly2936fs)
|
|
|
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs)
|
rs797044608
|
|
NM_014363.6(SACS):c.884T>A (p.Leu295Ter)
|
|
|
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter)
|
rs1057516853
|
|
NM_014363.6(SACS):c.8873del (p.Lys2958fs)
|
rs765992922
|
|
NM_014363.6(SACS):c.8888del (p.Phe2963fs)
|
rs1555250872
|
|
NM_014363.6(SACS):c.892_895delinsAC (p.Ser298fs)
|
|
|
NM_014363.6(SACS):c.896_898delinsCT (p.Phe299fs)
|
|
|
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs)
|
rs1057517060
|
|
NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)
|
|
|
NM_014363.6(SACS):c.9119del (p.Asn3040fs)
|
|
|
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
|
|
|
NM_014363.6(SACS):c.9266del (p.Pro3089fs)
|
|
|
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup)
|
rs2137584629
|
|
NM_014363.6(SACS):c.9375_9379del (p.Asn3125fs)
|
rs1555250684
|
|
NM_014363.6(SACS):c.9376del (p.Asn3125_Leu3126insTer)
|
|
|
NM_014363.6(SACS):c.9377dup (p.Leu3128fs)
|
rs1057516875
|
|
NM_014363.6(SACS):c.9390_9391del (p.His3130fs)
|
rs1057517349
|
|
NM_014363.6(SACS):c.9447del (p.Val3150fs)
|
rs1555250653
|
|
NM_014363.6(SACS):c.9498del (p.Phe3166fs)
|
rs1555250642
|
|
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)
|
rs1060503431
|
|
NM_014363.6(SACS):c.9580_9587delinsC (p.Lys3195fs)
|
|
|
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs)
|
rs1555250557
|
|
NM_014363.6(SACS):c.964G>T (p.Glu322Ter)
|
rs1593145590
|
|
NM_014363.6(SACS):c.9653T>G (p.Leu3218Ter)
|
rs2137582138
|
|
NM_014363.6(SACS):c.9659_9660del (p.Ser3220fs)
|
rs2137582027
|
|
NM_014363.6(SACS):c.9660dup (p.Val3221fs)
|
|
|
NM_014363.6(SACS):c.9663_9664del (p.Leu3222fs)
|
|
|
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter)
|
rs751568153
|
|
NM_014363.6(SACS):c.9762del (p.Ser3254_Val3255insTer)
|
|
|
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs)
|
rs1555250508
|
|
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs)
|
rs1057516464
|
|
NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter)
|
|
|
NM_014363.6(SACS):c.9851del (p.Thr3284fs)
|
|
|
NM_014363.6(SACS):c.9879del (p.Val3294fs)
|
rs2137580025
|
|
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)
|
rs772704931
|
|
NM_014363.6(SACS):c.998_999del (p.Val333fs)
|
|
|
NM_014363.6(SACS):c.[7504C>T;8132C>T]
|
|
|
NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter)
|
|
|
NM_014425.5(INVS):c.107-1G>A
|
|
|
NM_014425.5(INVS):c.1234+2T>G
|
|
|
NM_014425.5(INVS):c.1464+1G>A
|
rs375753623
|
|
NM_014425.5(INVS):c.1464+1G>T
|
rs375753623
|
|
NM_014425.5(INVS):c.2069-1G>T
|
|
|
NM_014425.5(INVS):c.2371C>T (p.Gln791Ter)
|
|
|
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs)
|
rs777723411
|
|
NM_014425.5(INVS):c.273+1G>A
|
|
|
NM_014425.5(INVS):c.274-2A>G
|
|
|
NM_014425.5(INVS):c.2786+2T>C
|
rs1322951938
|
|
NM_014425.5(INVS):c.2949dup (p.Lys984fs)
|
rs1588153872
|
|
NM_014425.5(INVS):c.3062_3063del (p.Lys1021fs)
|
|
|
NM_014425.5(INVS):c.3104del (p.Gln1035fs)
|
rs2118799345
|
|
NM_014425.5(INVS):c.448-2A>G
|
|
|
NM_014425.5(INVS):c.497_512dup (p.His171fs)
|
rs779545419
|
|
NM_014425.5(INVS):c.615+1G>A
|
rs955421639
|
|
NM_014425.5(INVS):c.778C>T (p.His260Tyr)
|
|
|
NM_014425.5(INVS):c.875C>T (p.Pro292Leu)
|
rs1831916010
|
|
NM_014425.5(INVS):c.906+1G>A
|
|
|
NM_014425.5(INVS):c.907-1G>A
|
|
|
NM_014672.4(PRORP):c.1454C>T (p.Ala485Val)
|
rs1169927428
|
|
NM_014687.4(RUBCN):c.1847+2T>G
|
|
|
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs)
|
rs749829859
|
|
NM_014704.4(CEP104):c.1485+1G>A
|
|
|
NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)
|
|
|
NM_014704.4(CEP104):c.182del (p.Leu61fs)
|
|
|
NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs)
|
rs1189678912
|
|
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
|
|
|
NM_014704.4(CEP104):c.928dup (p.Ala310fs)
|
|
|
NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter)
|
rs1561892336
|
|
NM_014780.5(CUL7):c.1563_1569+5del
|
|
|
NM_014780.5(CUL7):c.1838del (p.Pro613fs)
|
|
|
NM_014780.5(CUL7):c.206dup (p.Met69fs)
|
rs1561898352
|
|
NM_014780.5(CUL7):c.2398-2A>G
|
|
|
NM_014780.5(CUL7):c.2761_2765del (p.Asn921fs)
|
|
|
NM_014780.5(CUL7):c.2862+1G>A
|
|
|
NM_014780.5(CUL7):c.2862+2T>G
|
rs2150321832
|
|
NM_014780.5(CUL7):c.2863-1G>C
|
|
|
NM_014780.5(CUL7):c.3061G>A (p.Glu1021Lys)
|
rs2150320060
|
|
NM_014780.5(CUL7):c.3089del (p.Pro1030fs)
|
rs1561881909
|
|
NM_014780.5(CUL7):c.3247del (p.Gln1083fs)
|
rs1763636120
|
|
NM_014780.5(CUL7):c.3295del (p.Leu1099fs)
|
rs2150317151
|
|
NM_014780.5(CUL7):c.3368_3369del (p.Arg1123fs)
|
|
|
NM_014780.5(CUL7):c.3645+1G>A
|
|
|
NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter)
|
rs1561875767
|
|
NM_014780.5(CUL7):c.3722_3749dup (p.Val1252fs)
|
rs766471384
|
|
NM_014780.5(CUL7):c.4115del (p.Glu1372fs)
|
rs1561873941
|
|
NM_014780.5(CUL7):c.649_654del (p.Ser217_Arg218del)
|
rs1340929933
|
|
NM_014797.3(ZBTB24):c.1120+1G>A
|
|
|
NM_014797.3(ZBTB24):c.1121-2A>G
|
|
|
NM_014797.3(ZBTB24):c.1204+1G>A
|
|
|
NM_014797.3(ZBTB24):c.1204+1G>C
|
|
|
NM_014797.3(ZBTB24):c.1289-2A>T
|
|
|
NM_014797.3(ZBTB24):c.437_952+408del
|
|
|
NM_014797.3(ZBTB24):c.747_754dup (p.Arg252fs)
|
|
|
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter)
|
rs765514069
|
|
NM_014865.4(NCAPD2):c.2508del (p.Phe837fs)
|
rs772347389
|
|
NM_014875.3(KIF14):c.14G>T (p.Ser5Ile)
|
rs1256629719
|
|
NM_014875.3(KIF14):c.1921dup (p.Ser641fs)
|
|
|
NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)
|
|
|
NM_014875.3(KIF14):c.2765_2766del (p.Lys922fs)
|
|
|
NM_014875.3(KIF14):c.2813+2dup
|
|
|
NM_014875.3(KIF14):c.4071G>A (p.Gln1357=)
|
rs1553254322
|
|
NM_014875.3(KIF14):c.8dup (p.Leu3fs)
|
|
|
NM_014956.5(CEP164):c.1233+1G>A
|
|
|
NM_014956.5(CEP164):c.1234-2A>T
|
|
|
NM_014956.5(CEP164):c.1318-13_1319del
|
|
|
NM_014956.5(CEP164):c.1409+2T>C
|
|
|
NM_014956.5(CEP164):c.1934+1G>A
|
rs951827564
|
|
NM_014956.5(CEP164):c.194+2T>C
|
|
|
NM_014956.5(CEP164):c.2283+1G>C
|
|
|
NM_014956.5(CEP164):c.2283+2T>C
|
rs1459158279
|
|
NM_014956.5(CEP164):c.2284-1G>A
|
rs1391874809
|
|
NM_014956.5(CEP164):c.2361+1G>A
|
|
|
NM_014956.5(CEP164):c.2362-1G>T
|
|
|
NM_014956.5(CEP164):c.2562del (p.Met854fs)
|
rs1565582604
|
|
NM_014956.5(CEP164):c.2616+1G>A
|
rs2136378484
|
|
NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter)
|
rs373403222
|
|
NM_014956.5(CEP164):c.2914-1G>C
|
|
|
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)
|
rs1323529877
|
|
NM_014956.5(CEP164):c.3216+1del
|
|
|
NM_014956.5(CEP164):c.3437del (p.Gln1146fs)
|
|
|
NM_014956.5(CEP164):c.347del (p.Lys116fs)
|
rs751277203
|
|
NM_014956.5(CEP164):c.347dup (p.Glu117fs)
|
|
|
NM_014956.5(CEP164):c.3502-2A>G
|
|
|
NM_014956.5(CEP164):c.3609+1G>T
|
|
|
NM_014956.5(CEP164):c.3748+2T>C
|
|
|
NM_014956.5(CEP164):c.3749-2A>G
|
rs1482717760
|
|
NM_014956.5(CEP164):c.381dup (p.Lys128fs)
|
rs747914869
|
|
NM_014956.5(CEP164):c.4096+1G>C
|
|
|
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs)
|
rs756288878
|
|
NM_014956.5(CEP164):c.552+1G>C
|
rs2041038603
|
|
NM_014956.5(CEP164):c.553-1G>A
|
rs2041099865
|
|
NM_014956.5(CEP164):c.687+1G>A
|
|
|
NM_014956.5(CEP164):c.688-2A>C
|
rs370034077
|
|
NM_014956.5(CEP164):c.765+1G>A
|
rs2041251614
|
|
NM_014956.5(CEP164):c.766-2A>G
|
rs2135912935
|
|
NM_014994.3(MAPKBP1):c.934C>T (p.Arg312Ter)
|
rs1596088812
|
|
NM_015046.5(SETX):c.[6106G>A];[7149_7151delTTGinsAT]
|
|
|
NM_015046.6(SETX):c.6848_6851delCAGA
|
|
|
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter)
|
rs747501465
|
|
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)
|
rs1589734405
|
|
NM_015046.7(SETX):c.5276del (p.Val1759fs)
|
|
|
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)
|
rs750959420
|
|
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)
|
rs797045067
|
|
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr)
|
rs200154603
|
|
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly)
|
rs797045068
|
|
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg)
|
rs863224919
|
|
NM_015046.7(SETX):c.6208+2dup
|
|
|
NM_015046.7(SETX):c.6694C>T (p.Arg2232Cys)
|
rs759299299
|
|
NM_015046.7(SETX):c.6729_6730del (p.His2243fs)
|
rs752122764
|
|
NM_015046.7(SETX):c.6842+1G>T
|
rs1038776365
|
|
NM_015046.7(SETX):c.6843-3_6843-1del
|
rs1186690391
|
|
NM_015046.7(SETX):c.6859C>T (p.Arg2287Ter)
|
rs1339011741
|
|
NM_015046.7(SETX):c.7100+2T>C
|
|
|
NM_015046.7(SETX):c.718+3G>C
|
rs2131504173
|
|
NM_015102.5(NPHP4):c.1042_1043dup (p.Met348fs)
|
rs1647148516
|
|
NM_015102.5(NPHP4):c.1124_1125insCC (p.Ser376fs)
|
rs1570504754
|
|
NM_015102.5(NPHP4):c.135_135+14del
|
rs1557895715
|
|
NM_015102.5(NPHP4):c.135_135+8del
|
rs2102455183
|
|
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs)
|
rs1553178047
|
|
NM_015102.5(NPHP4):c.1503+1G>T
|
|
|
NM_015102.5(NPHP4):c.1788_1791del (p.Ser597fs)
|
rs747699128
|
|
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs)
|
rs1553200990
|
|
NM_015102.5(NPHP4):c.2007del (p.Phe670fs)
|
rs1235304713
|
|
NM_015102.5(NPHP4):c.2327del (p.Pro776fs)
|
rs1643882944
|
|
NM_015102.5(NPHP4):c.2611+1G>C
|
rs374141736
|
|
NM_015102.5(NPHP4):c.2611+2_2611+3del
|
rs2100733763
|
|
NM_015102.5(NPHP4):c.2686del (p.Arg896fs)
|
|
|
NM_015102.5(NPHP4):c.279+1G>A
|
|
|
NM_015102.5(NPHP4):c.280-1G>C
|
rs1652115764
|
|
NM_015102.5(NPHP4):c.2817+1G>A
|
|
|
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs)
|
rs1168286961
|
|
NM_015102.5(NPHP4):c.3044+1G>T
|
|
|
NM_015102.5(NPHP4):c.3083del (p.Gly1028fs)
|
rs1557616007
|
|
NM_015102.5(NPHP4):c.3231+1G>A
|
rs1642345798
|
|
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs)
|
rs762371581
|
|
NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter)
|
rs2100466824
|
|
NM_015102.5(NPHP4):c.3473-1G>T
|
rs564232197
|
|
NM_015102.5(NPHP4):c.3490_3491delinsA (p.Leu1164fs)
|
rs1641316046
|
|
NM_015102.5(NPHP4):c.3644+1G>T
|
rs756111113
|
|
NM_015102.5(NPHP4):c.3812T>C (p.Leu1271Pro)
|
|
|
NM_015102.5(NPHP4):c.4115T>C (p.Leu1372Pro)
|
rs765043646
|
|
NM_015102.5(NPHP4):c.452+1G>A
|
|
|
NM_015102.5(NPHP4):c.452+1G>T
|
rs1195128294
|
|
NM_015102.5(NPHP4):c.674-2A>G
|
|
|
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs)
|
rs781558715
|
|
NM_015102.5(NPHP4):c.992+1G>T
|
|
|
NM_015160.3(PMPCA):c.1204C>T (p.Arg402Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)
|
rs797045918
|
|
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs)
|
rs749987648
|
|
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)
|
rs1966902456
|
|
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)
|
rs1037406858
|
|
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)
|
rs767686118
|
|
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter)
|
rs145807002
|
|
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)
|
rs770291169
|
|
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs)
|
rs1966218490
|
|
NM_015272.5(RPGRIP1L):c.2891del (p.Pro964fs)
|
|
|
NM_015272.5(RPGRIP1L):c.2958+1G>T
|
rs2151056579
|
|
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)
|
rs1567800920
|
|
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.46G>A (p.Asp16Asn)
|
|
|
NM_015272.5(RPGRIP1L):c.529+1688_609del
|
|
|
NM_015272.5(RPGRIP1L):c.530-1G>C
|
rs2151325787
|
|
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)
|
rs564992297
|
|
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.872A>G (p.Gln291Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs)
|
rs757594906
|
|
NM_015275.3(WASHC4):c.1038+1G>T
|
rs1881282106
|
|
NM_015275.3(WASHC4):c.1374del (p.Met458fs)
|
|
|
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)
|
|
|
NM_015294.6(TRIM37):c.1019+2dup
|
|
|
NM_015294.6(TRIM37):c.1020-1G>C
|
|
|
NM_015294.6(TRIM37):c.1037_1040dup (p.Met347fs)
|
rs386833999
|
|
NM_015294.6(TRIM37):c.1048C>T (p.Gln350Ter)
|
|
|
NM_015294.6(TRIM37):c.1081C>T (p.Arg361Ter)
|
|
|
NM_015294.6(TRIM37):c.1153_1154insGACTTACTCGC (p.Ala385fs)
|
rs1599230814
|
|
NM_015294.6(TRIM37):c.123+1G>A
|
|
|
NM_015294.6(TRIM37):c.1243C>T (p.Gln415Ter)
|
rs757148418
|
|
NM_015294.6(TRIM37):c.1289dup (p.Gln431fs)
|
|
|
NM_015294.6(TRIM37):c.1291C>T (p.Gln431Ter)
|
|
|
NM_015294.6(TRIM37):c.1320_1323del (p.Thr441fs)
|
|
|
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs)
|
rs386834000
|
|
NM_015294.6(TRIM37):c.13_14del (p.Ser5fs)
|
|
|
NM_015294.6(TRIM37):c.165-2A>G
|
|
|
NM_015294.6(TRIM37):c.1668-1G>C
|
|
|
NM_015294.6(TRIM37):c.1808T>A (p.Leu603Ter)
|
|
|
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs)
|
rs386834002
|
|
NM_015294.6(TRIM37):c.1948+2T>C
|
rs2145613542
|
|
NM_015294.6(TRIM37):c.1987C>T (p.Gln663Ter)
|
|
|
NM_015294.6(TRIM37):c.2015dup (p.Leu672fs)
|
|
|
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter)
|
rs386834003
|
|
NM_015294.6(TRIM37):c.2237_2243del (p.Ala746fs)
|
|
|
NM_015294.6(TRIM37):c.2246dup (p.Tyr749Ter)
|
|
|
NM_015294.6(TRIM37):c.2293C>T (p.Arg765Ter)
|
|
|
NM_015294.6(TRIM37):c.2380_2383del (p.Ser794fs)
|
|
|
NM_015294.6(TRIM37):c.265G>T (p.Glu89Ter)
|
|
|
NM_015294.6(TRIM37):c.2804del (p.Pro935fs)
|
|
|
NM_015294.6(TRIM37):c.370-1G>A
|
|
|
NM_015294.6(TRIM37):c.40C>T (p.Arg14Ter)
|
|
|
NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter)
|
rs1568191596
|
|
NM_015294.6(TRIM37):c.609_610del (p.Leu204fs)
|
|
|
NM_015294.6(TRIM37):c.637C>T (p.Gln213Ter)
|
|
|
NM_015294.6(TRIM37):c.640G>T (p.Glu214Ter)
|
|
|
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter)
|
rs386834005
|
|
NM_015294.6(TRIM37):c.810-1G>A
|
rs386834006
|
|
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs)
|
rs386834007
|
|
NM_015294.6(TRIM37):c.937del (p.Tyr313fs)
|
|
|
NM_015294.6(TRIM37):c.961C>T (p.Arg321Ter)
|
|
|
NM_015294.6(TRIM37):c.965G>T (p.Gly322Val)
|
rs386834009
|
|
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter)
|
rs1559155954
|
|
NM_015311.3(OBSL1):c.1187G>A (p.Arg396His)
|
rs1559155800
|
|
NM_015311.3(OBSL1):c.1277_1282+5del
|
rs760929207
|
|
NM_015311.3(OBSL1):c.1534+5G>C
|
rs775172922
|
|
NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter)
|
|
|
NM_015311.3(OBSL1):c.2292_2320dup (p.Ile774delinsArgArgTrpMetGlyAlaAsnThrValTer)
|
|
|
NM_015311.3(OBSL1):c.2635del (p.Cys879fs)
|
rs1696644780
|
|
NM_015311.3(OBSL1):c.3603_3618del (p.Pro1203fs)
|
|
|
NM_015311.3(OBSL1):c.4085del (p.Leu1362fs)
|
rs2106028466
|
|
NM_015311.3(OBSL1):c.427dup (p.Ala143fs)
|
|
|
NM_015311.3(OBSL1):c.5556_5557insTC (p.Lys1853fs)
|
|
|
NM_015311.3(OBSL1):c.921delinsCC (p.Tyr308fs)
|
|
|
NM_015340.4(LARS2):c.1079T>C (p.Ile360Thr)
|
|
|
NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter)
|
rs1559484149
|
|
NM_015340.4(LARS2):c.1607C>T (p.Pro536Leu)
|
rs1575292827
|
|
NM_015340.4(LARS2):c.2072G>A (p.Trp691Ter)
|
|
|
NM_015340.4(LARS2):c.440A>C (p.Gln147Pro)
|
rs536853368
|
|
NM_015340.4(LARS2):c.457A>C (p.Asn153His)
|
rs786205560
|
|
NM_015378.4(VPS13D):c.10270C>T (p.Gln3424Ter)
|
rs2101615505
|
|
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser)
|
rs1557737087
|
|
NM_015378.4(VPS13D):c.1183C>T (p.Arg395Ter)
|
rs752359125
|
|
NM_015378.4(VPS13D):c.12242T>C (p.Val4081Ala)
|
|
|
NM_015378.4(VPS13D):c.12416C>T (p.Ala4139Val)
|
rs868354311
|
|
NM_015378.4(VPS13D):c.12530G>A (p.Gly4177Asp)
|
rs1645392057
|
|
NM_015378.4(VPS13D):c.12743C>A (p.Ala4248Glu)
|
rs779850187
|
|
NM_015378.4(VPS13D):c.5087dup (p.Pro1697fs)
|
|
|
NM_015378.4(VPS13D):c.8983C>T (p.Arg2995Ter)
|
rs202180923
|
|
NM_015404.4(WHRN):c.2140C>T (p.Gln714Ter)
|
|
|
NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs)
|
rs1564113368
|
|
NM_015404.4(WHRN):c.375del (p.Ala126fs)
|
rs751838091
|
|
NM_015474.4(SAMHD1):c.1271-1G>C
|
|
|
NM_015474.4(SAMHD1):c.1271-2A>C
|
|
|
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
|
|
|
NM_015474.4(SAMHD1):c.1410+1G>A
|
|
|
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
|
|
|
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)
|
rs768409471
|
|
NM_015474.4(SAMHD1):c.1608+1G>A
|
rs373731440
|
|
NM_015474.4(SAMHD1):c.1608G>A (p.Gln536=)
|
rs1990238054
|
|
NM_015474.4(SAMHD1):c.1609-2A>G
|
rs1700306908
|
|
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)
|
rs149846637
|
|
NM_015474.4(SAMHD1):c.349-1G>A
|
rs1251155562
|
|
NM_015474.4(SAMHD1):c.349-2A>T
|
rs2146137671
|
|
NM_015474.4(SAMHD1):c.625+1G>A
|
rs1601141002
|
|
NM_015474.4(SAMHD1):c.626-1G>C
|
rs2146127849
|
|
NM_015474.4(SAMHD1):c.696+2T>C
|
|
|
NM_015474.4(SAMHD1):c.697-1G>T
|
rs2146119643
|
|
NM_015474.4(SAMHD1):c.697-2A>G
|
|
|
NM_015474.4(SAMHD1):c.852+1G>A
|
|
|
NM_015474.4(SAMHD1):c.852+1G>T
|
rs780504624
|
|
NM_015474.4(SAMHD1):c.853-1G>C
|
|
|
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
|
|
|
NM_015474.4(SAMHD1):c.953+1G>A
|
rs2146117027
|
|
NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)
|
|
|
NM_015602.4(TOR1AIP1):c.553+1G>A
|
rs1180978840
|
|
NM_015602.4(TOR1AIP1):c.553+1_553+10del
|
rs750028739
|
|
NM_015602.4(TOR1AIP1):c.554-4_554-1delinsAC
|
rs1647993845
|
|
NM_015602.4(TOR1AIP1):c.739+1G>A
|
rs900977276
|
|
NM_015602.4(TOR1AIP1):c.797-2A>T
|
rs756798409
|
|
NM_015602.4(TOR1AIP1):c.838+2T>A
|
|
|
NM_015602.4(TOR1AIP1):c.906_907+5del
|
rs1571735403
|
|
NM_015602.4(TOR1AIP1):c.907+1G>A
|
|
|
NM_015602.4(TOR1AIP1):c.961C>T (p.Arg321Ter)
|
rs11581962
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
NM_015662.3(IFT172):c.296G>A (p.Trp99Ter)
|
rs1668654133
|
|
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)
|
rs543062539
|
|
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)
|
rs1329856696
|
|
NM_015665.5(AAAS):c.936_937delAG
|
rs1592513048
|
|
NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr)
|
rs765757844
|
|
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs)
|
rs770214071
|
|
NM_015665.6(AAAS):c.301G>T (p.Glu101Ter)
|
|
|
NM_015665.6(AAAS):c.762del (p.Ser255fs)
|
rs746057093
|
|
NM_015665.6(AAAS):c.781_782del (p.Ala262fs)
|
rs2121089586
|
|
NM_015665.6(AAAS):c.810+1G>A
|
|
|
NM_015665.6(AAAS):c.901A>T (p.Lys301Ter)
|
rs774817639
|
|
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr)
|
rs886039811
|
|
NM_015702.3(MMADHC):c.10-1G>A
|
|
|
NM_015702.3(MMADHC):c.10-2A>G
|
|
|
NM_015702.3(MMADHC):c.128_129del (p.His43fs)
|
rs1162948308
|
|
NM_015702.3(MMADHC):c.154+1G>C
|
rs1385597423
|
|
NM_015702.3(MMADHC):c.155-2A>G
|
|
|
NM_015702.3(MMADHC):c.373-1G>A
|
rs764179800
|
|
NM_015702.3(MMADHC):c.373-2A>G
|
|
|
NM_015702.3(MMADHC):c.478+1G>C
|
|
|
NM_015702.3(MMADHC):c.479-2A>G
|
|
|
NM_015702.3(MMADHC):c.563_566del (p.Val188fs)
|
|
|
NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)
|
|
|
NM_015702.3(MMADHC):c.610-1G>A
|
|
|
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)
|
rs2105042238
|
|
NM_015702.3(MMADHC):c.664del (p.Ala222fs)
|
|
|
NM_015702.3(MMADHC):c.702dup (p.Gly235fs)
|
rs1682617973
|
|
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)
|
|
|
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)
|
rs1408840913
|
|
NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter)
|
|
|
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)
|
rs118204048
|
|
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)
|
|
|
NM_015702.3(MMADHC):c.9+1G>A
|
|
|
NM_015895.5(GMNN):c.50A>G (p.Lys17Arg)
|
rs864309488
|
|
NM_015910.7(WDPCP):c.1436-1G>C
|
rs959923850
|
|
NM_015910.7(WDPCP):c.161-1G>C
|
|
|
NM_015910.7(WDPCP):c.1813-2A>T
|
rs2104772718
|
|
NM_015910.7(WDPCP):c.1915+2del
|
|
|
NM_015910.7(WDPCP):c.1916-2A>G
|
rs763299856
|
|
NM_015910.7(WDPCP):c.253+1G>A
|
|
|
NM_015910.7(WDPCP):c.253+2T>C
|
rs1700584499
|
|
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter)
|
rs2105500878
|
|
NM_015910.7(WDPCP):c.633+2T>C
|
rs765356177
|
|
NM_015910.7(WDPCP):c.75+1G>T
|
rs1486299333
|
|
NM_015910.7(WDPCP):c.825+1G>A
|
|
|
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
|
|
|
NM_016038.4(SBDS):c.167T>C (p.Val56Ala)
|
rs1584437592
|
|
NM_016038.4(SBDS):c.305_308del (p.Thr102fs)
|
rs745661722
|
|
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs)
|
rs1411636529
|
|
NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)
|
|
|
NM_016038.4(SBDS):c.629G>A (p.Cys210Tyr)
|
rs2129231218
|
|
NM_016038.4(SBDS):c.653G>A (p.Arg218Gln)
|
rs757497272
|
|
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
|
|
|
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
|
|
|
NM_016042.4(EXOSC3):c.325-1G>T
|
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)
|
rs2118977758
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
|
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
NM_016098.4(MPC1):c.109C>T (p.Pro37Ser)
|
rs2114943862
|
|
NM_016098.4(MPC1):c.208G>A (p.Ala70Thr)
|
rs867958037
|
|
NM_016098.4(MPC1):c.214A>G (p.Lys72Glu)
|
rs1554264977
|
|
NM_016100.5(NAA20):c.160A>G (p.Met54Val)
|
rs2146464332
|
|
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter)
|
rs749597091
|
|
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
|
|
|
NM_016219.5(MAN1B1):c.219+1G>A
|
rs2130983856
|
|
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
|
|
|
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)
|
rs797045688
|
|
NM_016219.5(MAN1B1):c.917-2_921del
|
|
|
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs)
|
rs750130520
|
|
NM_016239.4(MYO15A):c.10129dup (p.Ala3377fs)
|
rs2142428987
|
|
NM_016239.4(MYO15A):c.10209delinsCCAGGCCCGTGCAGCTC (p.Gln3403fs)
|
rs1057519601
|
|
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del)
|
rs760069953
|
|
NM_016239.4(MYO15A):c.10294_10308del (p.Pro3432_Ala3436del)
|
rs2142430892
|
|
NM_016239.4(MYO15A):c.10351-15T>G
|
|
|
NM_016239.4(MYO15A):c.10360_10362del (p.Val3454del)
|
rs2142436001
|
|
NM_016239.4(MYO15A):c.1101del (p.Tyr368fs)
|
rs2142243946
|
|
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)
|
rs769260536
|
|
NM_016239.4(MYO15A):c.1205_1224del (p.Pro402fs)
|
rs2142244867
|
|
NM_016239.4(MYO15A):c.1858G>T (p.Glu620Ter)
|
rs1445431722
|
|
NM_016239.4(MYO15A):c.1971G>A (p.Trp657Ter)
|
rs1567623176
|
|
NM_016239.4(MYO15A):c.2456C>A (p.Ser819Ter)
|
rs767378045
|
|
NM_016239.4(MYO15A):c.2873del (p.Pro958fs)
|
rs1217492313
|
|
NM_016239.4(MYO15A):c.3233G>A (p.Trp1078Ter)
|
rs866595552
|
|
NM_016239.4(MYO15A):c.346_376del (p.Gly116fs)
|
rs1597747826
|
|
NM_016239.4(MYO15A):c.3576G>A (p.Trp1192Ter)
|
|
|
NM_016239.4(MYO15A):c.3904del (p.Met1302fs)
|
rs2142282007
|
|
NM_016239.4(MYO15A):c.3932T>C (p.Ile1311Thr)
|
rs1057519603
|
|
NM_016239.4(MYO15A):c.4030C>T (p.Gln1344Ter)
|
rs2142283941
|
|
NM_016239.4(MYO15A):c.4454T>C (p.Leu1485Pro)
|
rs751973078
|
|
NM_016239.4(MYO15A):c.4482+2T>C
|
rs2142307505
|
|
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter)
|
rs779077039
|
|
NM_016239.4(MYO15A):c.4538C>T (p.Ala1513Val)
|
rs2142315607
|
|
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter)
|
rs1209665716
|
|
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter)
|
rs1567641234
|
|
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs)
|
rs1555543836
|
|
NM_016239.4(MYO15A):c.5362T>G (p.Cys1788Gly)
|
rs2142335605
|
|
NM_016239.4(MYO15A):c.5461del (p.Val1821fs)
|
rs764867438
|
|
NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu)
|
rs752816535
|
|
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter)
|
rs2142343642
|
|
NM_016239.4(MYO15A):c.5886C>A (p.Tyr1962Ter)
|
|
|
NM_016239.4(MYO15A):c.5941G>T (p.Gly1981Trp)
|
rs1240409145
|
|
NM_016239.4(MYO15A):c.6045A>T (p.Ala2015=)
|
rs2142347739
|
|
NM_016239.4(MYO15A):c.6177+1G>T
|
rs751142446
|
|
NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg)
|
rs2142355107
|
|
NM_016239.4(MYO15A):c.6510-1G>T
|
rs2142360420
|
|
NM_016239.4(MYO15A):c.6551_6552del (p.Cys2184fs)
|
rs2142360575
|
|
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His)
|
rs2046512154
|
|
NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu)
|
|
|
NM_016239.4(MYO15A):c.6764+1G>T
|
rs2046521710
|
|
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs)
|
rs2142363190
|
|
NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter)
|
rs1330406146
|
|
NM_016239.4(MYO15A):c.707A>G (p.Tyr236Cys)
|
rs2045862543
|
|
NM_016239.4(MYO15A):c.7313dup (p.Glu2439fs)
|
|
|
NM_016239.4(MYO15A):c.7711_7712dup (p.Gln2571fs)
|
rs1267868260
|
|
NM_016239.4(MYO15A):c.7771del (p.Arg2591fs)
|
rs2142370684
|
|
NM_016239.4(MYO15A):c.8088+1G>A
|
rs773461233
|
|
NM_016239.4(MYO15A):c.8162C>A (p.Thr2721Lys)
|
rs1288328459
|
|
NM_016239.4(MYO15A):c.8224+3A>G
|
rs1057519605
|
|
NM_016239.4(MYO15A):c.8245_8246del (p.Gln2749fs)
|
rs2142381103
|
|
NM_016239.4(MYO15A):c.8285_8308del (p.Val2762_Trp2769del)
|
rs2142381306
|
|
NM_016239.4(MYO15A):c.8458A>C (p.Ser2820Arg)
|
rs2142382400
|
|
NM_016239.4(MYO15A):c.8601+2T>G
|
|
|
NM_016239.4(MYO15A):c.8789-2A>G
|
|
|
NM_016239.4(MYO15A):c.8791del (p.Trp2931fs)
|
rs2142388348
|
|
NM_016239.4(MYO15A):c.8828T>C (p.Phe2943Ser)
|
rs2142388547
|
|
NM_016239.4(MYO15A):c.8910del (p.Val2971fs)
|
|
|
NM_016239.4(MYO15A):c.8944C>T (p.Gln2982Ter)
|
rs774312110
|
|
NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter)
|
rs1567658710
|
|
NM_016239.4(MYO15A):c.9084-1G>T
|
rs1567658906
|
|
NM_016239.4(MYO15A):c.9341dup (p.Tyr3114Ter)
|
|
|
NM_016239.4(MYO15A):c.9371dup (p.Asn3124fs)
|
rs2046752611
|
|
NM_016239.4(MYO15A):c.9443G>A (p.Cys3148Tyr)
|
|
|
NM_016239.4(MYO15A):c.[5192T>C;823G>C]
|
|
|
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg)
|
rs797045036
|
|
NM_016302.4(CRBN):c.641C>G (p.Ser214Ter)
|
rs1575094649
|
|
NM_016356.5(DCDC2):c.223_293del (p.Arg75fs)
|
rs1760494153
|
|
NM_016356.5(DCDC2):c.426-2A>G
|
rs2113838226
|
|
NM_016356.5(DCDC2):c.549dup (p.Val184fs)
|
rs1581640646
|
|
NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter)
|
|
|
NM_016356.5(DCDC2):c.970dup (p.Ala324fs)
|
rs774115675
|
|
NM_016366.3(CABP2):c.482del (p.Phe161fs)
|
rs368437370
|
|
NM_016366.3(CABP2):c.490-8C>A
|
rs776117741
|
|
NM_016366.3(CABP2):c.60C>A (p.Leu20=)
|
|
|
NM_016373.4(WWOX):c.107+1G>A
|
rs1300924648
|
|
NM_016373.4(WWOX):c.108-2A>T
|
rs1597207802
|
|
NM_016373.4(WWOX):c.511G>T (p.Glu171Ter)
|
rs751181600
|
|
NM_016373.4(WWOX):c.605+1_605+2delinsAA
|
rs2151934194
|
|
NM_016373.4(WWOX):c.605+2T>C
|
|
|
NM_016373.4(WWOX):c.605_605+3del
|
rs767732033
|
|
NM_016373.4(WWOX):c.791+1G>T
|
rs1164465811
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_016529.6(ATP8A2):c.1322dup (p.Lys442fs)
|
|
|
NM_016529.6(ATP8A2):c.1474-2del
|
rs2138177530
|
|
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs)
|
rs1156904586
|
|
NM_016529.6(ATP8A2):c.1868-2A>G
|
rs2039720333
|
|
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter)
|
rs1593576872
|
|
NM_016529.6(ATP8A2):c.210del (p.Asp70fs)
|
rs2035763126
|
|
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)
|
rs1566306570
|
|
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp)
|
rs1593410369
|
|
NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)
|
|
|
NM_016529.6(ATP8A2):c.3469+1G>C
|
rs763272441
|
|
NM_016529.6(ATP8A2):c.518del (p.Gly173fs)
|
rs2038343394
|
|
NM_016614.3(TDP2):c.635_636+2del
|
rs2127617300
|
|
NM_016929.5(CLIC5):c.644G>A (p.Trp215Ter)
|
rs1043716893
|
|
NM_016938.5(EFEMP2):c.-7-1_-7delinsAT
|
|
|
NM_016938.5(EFEMP2):c.109_111+3del
|
rs1859976995
|
|
NM_016938.5(EFEMP2):c.1110dup (p.Gly371fs)
|
rs1555042727
|
|
NM_016938.5(EFEMP2):c.247C>T (p.Arg83Cys)
|
|
|
NM_016938.5(EFEMP2):c.368-2A>G
|
|
|
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys)
|
rs761656636
|
|
NM_016938.5(EFEMP2):c.608-1G>C
|
rs888015688
|
|
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)
|
rs119489102
|
|
NM_016938.5(EFEMP2):c.848-1_850del
|
|
|
NM_017414.4(USP18):c.1073+1G>A
|
rs1602534094
|
|
NM_017414.4(USP18):c.652C>T (p.Gln218Ter)
|
rs1085307118
|
|
NM_017414.4(USP18):c.891+1G>T
|
|
|
NM_017433.5(MYO3A):c.2636-1G>T
|
rs1564602202
|
|
NM_017433.5(MYO3A):c.3093G>A (p.Trp1031Ter)
|
rs2131991331
|
|
NM_017433.5(MYO3A):c.3383del (p.Asn1128fs)
|
|
|
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs)
|
rs752046945
|
|
NM_017613.4(DONSON):c.48del (p.Glu17fs)
|
rs2145910302
|
|
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]
|
|
|
NM_017721.5(CC2D1A):c.1620_1623dup (p.Pro542fs)
|
rs1971392241
|
|
NM_017721.5(CC2D1A):c.2711-2A>G
|
|
|
NM_017721.5(CC2D1A):c.61-2A>G
|
|
|
NM_017739.4(POMGNT1):c.1027-2_1027-1del
|
rs1057516536
|
|
NM_017739.4(POMGNT1):c.1110+1G>T
|
|
|
NM_017739.4(POMGNT1):c.1111-1G>A
|
|
|
NM_017739.4(POMGNT1):c.1111-8_1119del
|
|
|
NM_017739.4(POMGNT1):c.1152+1G>A
|
rs1474858292
|
|
NM_017739.4(POMGNT1):c.1153-1G>C
|
rs1657900739
|
|
NM_017739.4(POMGNT1):c.1153-4_1153-1del
|
|
|
NM_017739.4(POMGNT1):c.120+1G>A
|
|
|
NM_017739.4(POMGNT1):c.120+2T>A
|
rs1658353874
|
|
NM_017739.4(POMGNT1):c.121-67_265del
|
rs1658278935
|
|
NM_017739.4(POMGNT1):c.121-67_265delinsTAG
|
|
|
NM_017739.4(POMGNT1):c.1212-1G>A
|
rs1553163254
|
|
NM_017739.4(POMGNT1):c.1212-3_1212-2del
|
rs1064797111
|
|
NM_017739.4(POMGNT1):c.1284+2_1284+19del
|
rs1057516409
|
|
NM_017739.4(POMGNT1):c.1343G>A (p.Gly448Glu)
|
|
|
NM_017739.4(POMGNT1):c.1413+1G>T
|
rs587777821
|
|
NM_017739.4(POMGNT1):c.1468T>G (p.Cys490Gly)
|
|
|
NM_017739.4(POMGNT1):c.1539+1del
|
rs1553163077
|
|
NM_017739.4(POMGNT1):c.1604+1G>A
|
rs1553162873
|
|
NM_017739.4(POMGNT1):c.1605-1G>T
|
rs770219373
|
|
NM_017739.4(POMGNT1):c.1605-2A>T
|
rs2148172518
|
|
NM_017739.4(POMGNT1):c.1649+2T>G
|
rs1268759044
|
|
NM_017739.4(POMGNT1):c.1650-97_1728del
|
rs2148166991
|
|
NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)
|
|
|
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)
|
rs1057516903
|
|
NM_017739.4(POMGNT1):c.1785+1G>A
|
rs2148166435
|
|
NM_017739.4(POMGNT1):c.1786-1G>A
|
rs1457667479
|
|
NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser)
|
rs886044567
|
|
NM_017739.4(POMGNT1):c.1814G>T (p.Arg605Leu)
|
rs267606962
|
|
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)
|
rs386834022
|
|
NM_017739.4(POMGNT1):c.235+2T>C
|
rs2148218654
|
|
NM_017739.4(POMGNT1):c.235+2T>G
|
rs2148218654
|
|
NM_017739.4(POMGNT1):c.236-1G>C
|
|
|
NM_017739.4(POMGNT1):c.421-29_452del
|
rs2148212111
|
|
NM_017739.4(POMGNT1):c.653-2A>C
|
rs1553163721
|
|
NM_017739.4(POMGNT1):c.751+2T>G
|
|
|
NM_017739.4(POMGNT1):c.752-2A>G
|
rs1236287516
|
|
NM_017739.4(POMGNT1):c.880-1G>A
|
rs1317832573
|
|
NM_017739.4(POMGNT1):c.880-1G>C
|
rs1317832573
|
|
NM_017739.4(POMGNT1):c.931C>G (p.Arg311Gly)
|
|
|
NM_017739.4(POMGNT1):c.932G>C (p.Arg311Pro)
|
|
|
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)
|
rs1377452635
|
|
NM_017755.6(NSUN2):c.1198_1201dup (p.Leu401fs)
|
|
|
NM_017755.6(NSUN2):c.1566del (p.Phe522fs)
|
|
|
NM_017755.6(NSUN2):c.1725_1728del (p.Ser575fs)
|
rs762288077
|
|
NM_017755.6(NSUN2):c.1903A>G (p.Asn635Asp)
|
rs1403893283
|
|
NM_017755.6(NSUN2):c.430_431del (p.Lys144fs)
|
rs1579377990
|
|
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter)
|
rs868442196
|
|
NM_017755.6(NSUN2):c.839dup (p.Asn280fs)
|
rs1579370234
|
|
NM_017755.6(NSUN2):c.962_964delinsTTA (p.Cys321_Ser322delinsPheThr)
|
|
|
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
|
|
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
|
|
|
NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)
|
|
|
NM_017777.4(MKS1):c.1071del (p.Cys358fs)
|
rs762377424
|
|
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)
|
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1165+2T>C
|
|
|
NM_017777.4(MKS1):c.1166-2A>G
|
rs1488635637
|
|
NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)
|
|
|
NM_017777.4(MKS1):c.1203_1209delinsTCTCT (p.Leu404fs)
|
|
|
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
|
rs781423785
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
NM_017777.4(MKS1):c.1274-2A>C
|
|
|
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
|
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1408-1dup
|
rs762668200
|
|
NM_017777.4(MKS1):c.1408-2A>G
|
rs1555596943
|
|
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
|
|
|
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs)
|
rs1555596845
|
|
NM_017777.4(MKS1):c.1447_1490+22del
|
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter)
|
rs2143737457
|
|
NM_017777.4(MKS1):c.1490+1G>A
|
rs2143737350
|
|
NM_017777.4(MKS1):c.1501G>T (p.Glu501Ter)
|
|
|
NM_017777.4(MKS1):c.171del (p.Phe57fs)
|
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.190+1G>A
|
|
|
NM_017777.4(MKS1):c.1A>G (p.Met1Val)
|
rs1555601787
|
|
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
|
|
|
NM_017777.4(MKS1):c.259C>T (p.Gln87Ter)
|
|
|
NM_017777.4(MKS1):c.367dup (p.Arg123fs)
|
rs775043799
|
|
NM_017777.4(MKS1):c.435del (p.Thr146fs)
|
|
|
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter)
|
rs903778224
|
|
NM_017777.4(MKS1):c.515+2T>G
|
rs1376664664
|
|
NM_017777.4(MKS1):c.516-2A>G
|
rs2143805609
|
|
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
|
|
|
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
|
|
|
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)
|
rs2143800757
|
|
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
|
|
|
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
|
|
|
NM_017777.4(MKS1):c.766del (p.Glu256fs)
|
|
|
NM_017777.4(MKS1):c.766dup (p.Glu256fs)
|
|
|
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
|
|
|
NM_017777.4(MKS1):c.80+2T>C
|
rs386834052
|
|
NM_017777.4(MKS1):c.805dup (p.Ser269fs)
|
rs1320893771
|
|
NM_017777.4(MKS1):c.81_82del
|
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
|
|
|
NM_017777.4(MKS1):c.858+1G>A
|
rs756102768
|
|
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
|
|
|
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
|
|
|
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
|
|
|
NM_017777.4(MKS1):c.[1115_1117del;1476T>G]
|
|
|
NM_017807.4(OSGEP):c.118T>C (p.Phe40Leu)
|
|
|
NM_017807.4(OSGEP):c.365G>T (p.Gly122Val)
|
rs1166790792
|
|
NM_017807.4(OSGEP):c.560G>T (p.Gly187Val)
|
rs1417690595
|
|
NM_017807.4(OSGEP):c.695C>A (p.Ser232Tyr)
|
rs2139289899
|
|
NM_017807.4(OSGEP):c.81C>G (p.Asn27Lys)
|
rs1881216647
|
|
NM_017807.4(OSGEP):c.839G>T (p.Arg280Leu)
|
rs144732839
|
|
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter)
|
rs531916765
|
|
NM_017825.3(ADPRS):c.166C>T (p.Gln56Ter)
|
|
|
NM_017825.3(ADPRS):c.169_170del (p.Leu58fs)
|
rs1570008399
|
|
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro)
|
rs1557733311
|
|
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter)
|
rs368433666
|
|
NM_017825.3(ADPRS):c.485T>C (p.Leu162Pro)
|
rs1570012058
|
|
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu)
|
rs200626873
|
|
NM_017825.3(ADPRS):c.564C>A (p.Tyr188Ter)
|
rs2124055267
|
|
NM_017825.3(ADPRS):c.744_746del (p.Lys248_Ile249delinsAsn)
|
rs1570013257
|
|
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)
|
rs121918331
|
|
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His)
|
rs146864395
|
|
NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs)
|
rs1575247302
|
|
NM_017875.4(SLC25A38):c.793-1G>C
|
|
|
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val)
|
rs1227163239
|
|
NM_018075.5(ANO10):c.101G>A (p.Trp34Ter)
|
|
|
NM_018075.5(ANO10):c.1056dup (p.Glu353Ter)
|
|
|
NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg)
|
rs1575415900
|
|
NM_018075.5(ANO10):c.1A>G (p.Met1Val)
|
|
|
NM_018131.5(CEP55):c.190C>T (p.Arg64Ter)
|
rs146596670
|
|
NM_018136.5(ASPM):c.1485dup (p.Thr496fs)
|
|
|
NM_018136.5(ASPM):c.1498del (p.Arg500fs)
|
|
|
NM_018136.5(ASPM):c.1619dup (p.Asp540fs)
|
|
|
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter)
|
rs933106143
|
|
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs)
|
rs199422146
|
|
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)
|
rs199422147
|
|
NM_018136.5(ASPM):c.250_252delinsCG (p.Ala84fs)
|
|
|
NM_018136.5(ASPM):c.2551A>T (p.Ile851Phe)
|
rs2125107877
|
|
NM_018136.5(ASPM):c.2783del (p.Ala928fs)
|
|
|
NM_018136.5(ASPM):c.3082+1G>C
|
rs886041709
|
|
NM_018136.5(ASPM):c.326dup (p.Asn109fs)
|
|
|
NM_018136.5(ASPM):c.3282_3285del (p.Asn1095fs)
|
rs1240081512
|
|
NM_018136.5(ASPM):c.3742-1G>C
|
|
|
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs)
|
rs587783239
|
|
NM_018136.5(ASPM):c.3879_3880del (p.Lys1294fs)
|
|
|
NM_018136.5(ASPM):c.4039C>T (p.Gln1347Ter)
|
|
|
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)
|
rs1057520873
|
|
NM_018136.5(ASPM):c.4515del (p.Lys1505fs)
|
|
|
NM_018136.5(ASPM):c.4720C>T (p.Gln1574Ter)
|
rs776034810
|
|
NM_018136.5(ASPM):c.4938dup (p.Gln1647fs)
|
|
|
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter)
|
rs2125096196
|
|
NM_018136.5(ASPM):c.532del (p.Thr178fs)
|
|
|
NM_018136.5(ASPM):c.5532T>G (p.Tyr1844Ter)
|
rs797045314
|
|
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter)
|
rs199422134
|
|
NM_018136.5(ASPM):c.6115_6118del (p.Lys2038_Arg2039insTer)
|
rs2125095313
|
|
NM_018136.5(ASPM):c.6548dup (p.Arg2184fs)
|
|
|
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer)
|
rs1334301723
|
|
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs)
|
rs770540184
|
|
NM_018136.5(ASPM):c.6808C>T (p.Gln2270Ter)
|
|
|
NM_018136.5(ASPM):c.6811_6812del (p.Arg2271fs)
|
|
|
NM_018136.5(ASPM):c.6854_6855del (p.Leu2285fs)
|
rs587783259
|
|
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs)
|
rs1064795945
|
|
NM_018136.5(ASPM):c.6928C>T (p.Gln2310Ter)
|
rs745997770
|
|
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)
|
rs587783263
|
|
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs)
|
rs587783265
|
|
NM_018136.5(ASPM):c.804del (p.Val269fs)
|
|
|
NM_018136.5(ASPM):c.8365del (p.Ser2789fs)
|
rs1353421249
|
|
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)
|
rs587783280
|
|
NM_018136.5(ASPM):c.8794del (p.Ile2932fs)
|
rs1160186494
|
|
NM_018136.5(ASPM):c.9109del (p.Gln3037fs)
|
rs2125089566
|
|
NM_018136.5(ASPM):c.9324del (p.Leu3109fs)
|
rs1163303148
|
|
NM_018136.5(ASPM):c.972_973del (p.Asn324fs)
|
rs765275884
|
|
NM_018136.5(ASPM):c.9923G>T (p.Arg3308Leu)
|
rs201362977
|
|
NM_018161.5(NADSYN1):c.1088C>T (p.Ala363Val)
|
|
|
NM_018161.5(NADSYN1):c.1759G>A (p.Asp587Asn)
|
|
|
NM_018161.5(NADSYN1):c.1765-7T>A
|
|
|
NM_018161.5(NADSYN1):c.271del (p.Met91fs)
|
rs1376159616
|
|
NM_018161.5(NADSYN1):c.379C>T (p.Arg127Cys)
|
|
|
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr)
|
rs764123669
|
|
NM_018230.3(NUP133):c.2992dup (p.Gln998fs)
|
rs1660478193
|
|
NM_018249.6(CDK5RAP2):c.1092+1G>A
|
|
|
NM_018249.6(CDK5RAP2):c.3610C>T (p.Gln1204Ter)
|
|
|
NM_018249.6(CDK5RAP2):c.3723-2A>C
|
|
|
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter)
|
rs754282058
|
|
NM_018249.6(CDK5RAP2):c.4414+1G>A
|
|
|
NM_018249.6(CDK5RAP2):c.5152del (p.Leu1718fs)
|
rs2033156861
|
|
NM_018249.6(CDK5RAP2):c.5579T>A (p.Leu1860Ter)
|
|
|
NM_018249.6(CDK5RAP2):c.968del (p.Gly322_Leu323insTer)
|
|
|
NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)
|
|
|
NM_018255.4(ELP2):c.2237del (p.Cys746fs)
|
|
|
NM_018255.4(ELP2):c.293dup (p.Leu98fs)
|
rs529659464
|
|
NM_018294.6(CWF19L1):c.1045-2A>C
|
|
|
NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter)
|
rs1554902760
|
|
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs)
|
rs1589611043
|
|
NM_018294.6(CWF19L1):c.187+1G>T
|
rs1330992740
|
|
NM_018294.6(CWF19L1):c.452T>G (p.Ile151Ser)
|
|
|
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter)
|
rs1589625941
|
|
NM_018294.6(CWF19L1):c.820dup (p.Ser274fs)
|
|
|
NM_018294.6(CWF19L1):c.942del (p.Pro315fs)
|
rs749679347
|
|
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys)
|
rs28939087
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_018389.5(SLC35C1):c.887A>G (p.His296Arg)
|
rs2134598287
|
|
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs)
|
rs777069665
|
|
NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)
|
|
|
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)
|
|
|
NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)
|
|
|
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile)
|
rs200244203
|
|
NM_018418.5(SPATA7):c.3G>T (p.Met1Ile)
|
|
|
NM_018418.5(SPATA7):c.[388C>T];[657del]
|
|
|
NM_018451.5(CENPJ):c.1426C>T (p.Gln476Ter)
|
|
|
NM_018451.5(CENPJ):c.265_266del (p.Gln89fs)
|
rs2138660627
|
|
NM_018451.5(CENPJ):c.2863G>T (p.Glu955Ter)
|
rs1053431940
|
|
NM_018451.5(CENPJ):c.3495_3497dup (p.Lys1165dup)
|
rs776528706
|
|
NM_018451.5(CENPJ):c.505_506del (p.Gln169fs)
|
|
|
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs)
|
rs797045454
|
|
NM_018669.6(WDR4):c.454-2A>C
|
rs779449710
|
|
NM_018669.6(WDR4):c.509_510delinsTT (p.Arg170Leu)
|
|
|
NM_018699.4(PRDM5):c.1513dup (p.Arg505fs)
|
|
|
NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter)
|
rs755802156
|
|
NM_018699.4(PRDM5):c.1785_1786del (p.His595fs)
|
rs1734381962
|
|
NM_018699.4(PRDM5):c.17T>G (p.Val6Gly)
|
rs1725107158
|
|
NM_018699.4(PRDM5):c.1858del (p.His620fs)
|
rs1734373037
|
|
NM_018699.4(PRDM5):c.475+2T>C
|
|
|
NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)
|
|
|
NM_018718.3(CEP41):c.757+2T>A
|
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
|
|
NM_018718.3(CEP41):c.98-2A>G
|
|
|
NM_018965.4(TREM2):c.269del (p.Gly90fs)
|
rs386834140
|
|
NM_018965.4(TREM2):c.40+4_40+6del
|
rs386834142
|
|
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter)
|
rs386834143
|
|
NM_018972.4(GDAP1):c.117+1G>A
|
rs1808804404
|
|
NM_018972.4(GDAP1):c.118-1G>A
|
|
|
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg)
|
rs863224774
|
|
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)
|
rs1808862287
|
|
NM_018972.4(GDAP1):c.196C>T (p.Pro66Ser)
|
rs773136934
|
|
NM_018972.4(GDAP1):c.246_256del (p.Gly83fs)
|
|
|
NM_018972.4(GDAP1):c.311-1790_408del
|
|
|
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu)
|
rs1174933176
|
|
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe)
|
rs1586803187
|
|
NM_018972.4(GDAP1):c.457C>T (p.Pro153Ser)
|
rs2131512957
|
|
NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser)
|
rs1809302381
|
|
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)
|
rs104894076
|
|
NM_018972.4(GDAP1):c.485-2del
|
|
|
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser)
|
rs1586804849
|
|
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)
|
rs1554547986
|
|
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg)
|
rs556827873
|
|
NM_018972.4(GDAP1):c.760dup (p.Thr254fs)
|
|
|
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln)
|
rs879254192
|
|
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)
|
rs397515432
|
|
NM_019892.6(INPP5E):c.1224del (p.Ile409fs)
|
rs2131608743
|
|
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter)
|
rs2131605715
|
|
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
|
|
|
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
|
|
|
NM_020066.5(FMN2):c.1861C>T (p.Arg621Ter)
|
rs1426355851
|
|
NM_020066.5(FMN2):c.547A>T (p.Ile183Phe)
|
rs757511770
|
|
NM_020066.5(FMN2):c.874C>T (p.Gln292Ter)
|
|
|
NM_020247.5(COQ8A):c.1007del (p.Phe336fs)
|
rs1085307053
|
|
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val)
|
rs767406263
|
|
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr)
|
rs755933881
|
|
NM_020247.5(COQ8A):c.1081-1_1082dup
|
rs1057519344
|
|
NM_020247.5(COQ8A):c.1088dup (p.Val364fs)
|
|
|
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln)
|
rs763311061
|
|
NM_020247.5(COQ8A):c.1376T>C (p.Leu459Pro)
|
rs1433323183
|
|
NM_020247.5(COQ8A):c.1467dup (p.Asn490fs)
|
|
|
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs)
|
rs751637699
|
|
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)
|
rs1553281318
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter)
|
rs201618750
|
|
NM_020247.5(COQ8A):c.1838_1851del (p.Met613fs)
|
|
|
NM_020247.5(COQ8A):c.32del (p.Val11fs)
|
|
|
NM_020247.5(COQ8A):c.836A>C (p.Gln279Pro)
|
rs1659738028
|
|
NM_020247.5(COQ8A):c.902G>A (p.Arg301Gln)
|
|
|
NM_020347.4(LZTFL1):c.457-1G>T
|
rs2125680264
|
|
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs)
|
rs776880045
|
|
NM_020366.4(RPGRIP1):c.1152-1749_1763-1241del
|
|
|
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)
|
rs1420750126
|
|
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys)
|
rs751521888
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
|
NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter)
|
rs1555303320
|
|
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)
|
|
|
NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs)
|
|
|
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs)
|
rs1943353362
|
|
NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA
|
|
|
NM_020458.4(TTC7A):c.1287+1del
|
rs2104457522
|
|
NM_020458.4(TTC7A):c.1510+2T>C
|
|
|
NM_020458.4(TTC7A):c.1641+1G>A
|
|
|
NM_020458.4(TTC7A):c.1919+1G>C
|
rs751311194
|
|
NM_020458.4(TTC7A):c.2368_2369insCGCC (p.Ser790fs)
|
rs2103674254
|
|
NM_020458.4(TTC7A):c.2384dup (p.Ser796fs)
|
rs1684975294
|
|
NM_020458.4(TTC7A):c.517+1G>C
|
rs2104019844
|
|
NM_020458.4(TTC7A):c.518-914_588del
|
rs1673619175
|
|
NM_020458.4(TTC7A):c.764+1G>T
|
rs756396993
|
|
NM_020458.4(TTC7A):c.764+5G>A
|
rs1180479579
|
|
NM_020631.6(PLEKHG5):c.1132-1G>T
|
rs2148585199
|
|
NM_020631.6(PLEKHG5):c.1393-2A>C
|
|
|
NM_020631.6(PLEKHG5):c.1438A>C (p.Met480Leu)
|
rs1441260635
|
|
NM_020631.6(PLEKHG5):c.1542+1G>C
|
|
|
NM_020631.6(PLEKHG5):c.1543-2A>G
|
|
|
NM_020631.6(PLEKHG5):c.1680+1G>T
|
|
|
NM_020631.6(PLEKHG5):c.1801-2A>G
|
|
|
NM_020631.6(PLEKHG5):c.1933+1del
|
|
|
NM_020631.6(PLEKHG5):c.1934-2A>C
|
|
|
NM_020631.6(PLEKHG5):c.2249+1G>A
|
|
|
NM_020631.6(PLEKHG5):c.2250-2A>C
|
|
|
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs)
|
rs753593088
|
|
NM_020631.6(PLEKHG5):c.2503_2510del (p.Pro835fs)
|
|
|
NM_020631.6(PLEKHG5):c.985-2A>G
|
rs1553174566
|
|
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter)
|
rs1584907924
|
|
NM_020632.3(ATP6V0A4):c.2011-2A>T
|
|
|
NM_020632.3(ATP6V0A4):c.2139+1G>T
|
|
|
NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu)
|
rs934266733
|
|
NM_020632.3(ATP6V0A4):c.292-1G>A
|
rs776867749
|
|
NM_020661.4(AICDA):c.169G>A (p.Val57Met)
|
rs786205474
|
|
NM_020661.4(AICDA):c.274C>T (p.Arg92Ter)
|
rs1227905250
|
|
NM_020661.4(AICDA):c.293T>G (p.Leu98Arg)
|
|
|
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)
|
rs2136431608
|
|
NM_020661.4(AICDA):c.417G>T (p.Met139Ile)
|
rs1591744217
|
|
NM_020661.4(AICDA):c.427+1G>A
|
|
|
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu)
|
rs2136433359
|
|
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)
|
rs769399833
|
|
NM_020661.4(AICDA):c.8+1G>C
|
|
|
NM_020680.4(SCYL1):c.1386+1G>T
|
rs201581270
|
|
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val)
|
rs1554969894
|
|
NM_020680.4(SCYL1):c.1591_1610del (p.Arg531fs)
|
|
|
NM_020779.4(WDR35):c.1255+1G>C
|
rs371669862
|
|
NM_020779.4(WDR35):c.1525-2A>T
|
|
|
NM_020779.4(WDR35):c.1846-30_1848del
|
rs1553317813
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg)
|
rs397515536
|
|
NM_020779.4(WDR35):c.570+2T>G
|
|
|
NM_020921.4(NIN):c.1966C>T (p.Gln656Ter)
|
|
|
NM_020964.3(EPG5):c.1389+2T>G
|
|
|
NM_020964.3(EPG5):c.1497+1G>T
|
rs886043244
|
|
NM_020964.3(EPG5):c.2695_2718+32del
|
|
|
NM_020964.3(EPG5):c.2719-1G>C
|
|
|
NM_020964.3(EPG5):c.2839-1G>T
|
|
|
NM_020964.3(EPG5):c.3098+2T>C
|
rs1599578081
|
|
NM_020964.3(EPG5):c.3477G>A (p.Trp1159Ter)
|
rs2145713137
|
|
NM_020964.3(EPG5):c.3693+2_3693+5del
|
rs2050008898
|
|
NM_020964.3(EPG5):c.3817-2A>G
|
|
|
NM_020964.3(EPG5):c.4184_4205+5del
|
|
|
NM_020964.3(EPG5):c.4387_4388del (p.Val1463fs)
|
rs1599536432
|
|
NM_020964.3(EPG5):c.4475-1G>A
|
|
|
NM_020964.3(EPG5):c.4475-2A>C
|
|
|
NM_020964.3(EPG5):c.4665del (p.Glu1555fs)
|
rs1057519318
|
|
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter)
|
rs1568133760
|
|
NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter)
|
rs1568133724
|
|
NM_020964.3(EPG5):c.4809+1G>A
|
|
|
NM_020964.3(EPG5):c.4952+1G>A
|
rs2049301523
|
|
NM_020964.3(EPG5):c.5110-2A>G
|
|
|
NM_020964.3(EPG5):c.5304+1G>A
|
|
|
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala)
|
rs1568118775
|
|
NM_020964.3(EPG5):c.5943-2A>G
|
|
|
NM_020964.3(EPG5):c.5943-9_5943-5del
|
rs773330060
|
|
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter)
|
rs1568112543
|
|
NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter)
|
rs1568112516
|
|
NM_020964.3(EPG5):c.6049+2T>C
|
|
|
NM_020964.3(EPG5):c.6049+5G>A
|
rs2048968935
|
|
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)
|
rs1568107449
|
|
NM_020964.3(EPG5):c.6225+2T>C
|
|
|
NM_020964.3(EPG5):c.63+1G>T
|
|
|
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter)
|
rs372940918
|
|
NM_020982.4(CLDN9):c.500dup (p.Trp168fs)
|
rs1567404609
|
|
NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg)
|
rs1296095311
|
|
NM_021628.3(ALOXE3):c.1525C>T (p.Arg509Ter)
|
rs754701941
|
|
NM_021628.3(ALOXE3):c.1685-2A>G
|
|
|
NM_021628.3(ALOXE3):c.352+1G>T
|
|
|
NM_021800.3(DNAJC12):c.410_413del (p.Lys137fs)
|
rs1443792358
|
|
NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu)
|
rs781016340
|
|
NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys)
|
rs1366090807
|
|
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val)
|
rs386834145
|
|
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)
|
rs111033574
|
|
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val)
|
rs1590020571
|
|
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln)
|
rs753386843
|
|
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser)
|
rs386834147
|
|
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)
|
rs764669712
|
|
NM_021942.6(TRAPPC11):c.1113+2T>G
|
rs2111348918
|
|
NM_021942.6(TRAPPC11):c.1207+1G>C
|
rs1735767573
|
|
NM_021942.6(TRAPPC11):c.1366+1G>A
|
|
|
NM_021942.6(TRAPPC11):c.1568-1G>A
|
rs1180079162
|
|
NM_021942.6(TRAPPC11):c.204+1G>C
|
rs1734714805
|
|
NM_021942.6(TRAPPC11):c.2436_2440del (p.Glu813fs)
|
rs2111068286
|
|
NM_021942.6(TRAPPC11):c.2694+1G>T
|
rs1186858080
|
|
NM_021942.6(TRAPPC11):c.2753dup (p.Leu918fs)
|
|
|
NM_021942.6(TRAPPC11):c.2852-1G>T
|
|
|
NM_021942.6(TRAPPC11):c.3379_3380insT (p.Asp1127fs)
|
|
|
NM_021942.6(TRAPPC11):c.374+1G>A
|
|
|
NM_021942.6(TRAPPC11):c.464C>T (p.Ser155Leu)
|
rs868721699
|
|
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs)
|
rs759415592
|
|
NM_021942.6(TRAPPC11):c.735-2A>G
|
rs1554007706
|
|
NM_021942.6(TRAPPC11):c.964C>T (p.Gln322Ter)
|
rs1483190866
|
|
NM_021942.6(TRAPPC11):c.965+1G>A
|
|
|
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)
|
rs397509422
|
|
NM_021971.4(GMPPB):c.129+1G>T
|
rs2108213393
|
|
NM_021971.4(GMPPB):c.130-2A>C
|
|
|
NM_021971.4(GMPPB):c.65C>T (p.Pro22Leu)
|
|
|
NM_021971.4(GMPPB):c.684dup (p.Met229fs)
|
rs2080427976
|
|
NM_021971.4(GMPPB):c.769-2A>G
|
rs2080423660
|
|
NM_021971.4(GMPPB):c.827C>T (p.Pro276Leu)
|
rs766298888
|
|
NM_021971.4(GMPPB):c.862C>T (p.Arg288Trp)
|
|
|
NM_022089.4(ATP13A2):c.1353_1353+1del
|
|
|
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)
|
rs121918227
|
|
NM_022089.4(ATP13A2):c.1837C>T (p.Gln613Ter)
|
rs2100785804
|
|
NM_022089.4(ATP13A2):c.1846-2A>G
|
rs2100783138
|
|
NM_022089.4(ATP13A2):c.2006-1G>C
|
|
|
NM_022089.4(ATP13A2):c.2127-2_2127-1delinsCC
|
|
|
NM_022089.4(ATP13A2):c.2135_2136del (p.Val712fs)
|
rs2076942520
|
|
NM_022089.4(ATP13A2):c.2413-1G>C
|
|
|
NM_022089.4(ATP13A2):c.2763-4_2763-1del
|
|
|
NM_022089.4(ATP13A2):c.3083+2T>C
|
rs771581490
|
|
NM_022089.4(ATP13A2):c.3151_3152del (p.Phe1051fs)
|
rs2076751251
|
|
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter)
|
rs1057519289
|
|
NM_022089.4(ATP13A2):c.348-9_351del
|
rs749798211
|
|
NM_022089.4(ATP13A2):c.557+1G>T
|
|
|
NM_022089.4(ATP13A2):c.558-1G>T
|
rs2077392348
|
|
NM_022095.4(ZNF335):c.2515_2518dup (p.Thr840fs)
|
rs797046124
|
|
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs)
|
rs753460205
|
|
NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu)
|
rs768092083
|
|
NM_022098.4(XPNPEP3):c.1055+2T>G
|
rs769010051
|
|
NM_022098.4(XPNPEP3):c.1194_1200del (p.Asp398fs)
|
|
|
NM_022098.4(XPNPEP3):c.658C>T (p.Gln220Ter)
|
|
|
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser)
|
rs1060499791
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys)
|
|
|
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser)
|
rs1060499792
|
|
NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu)
|
|
|
NM_022124.6(CDH23):c.1986+3A>T
|
rs2132682822
|
|
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn)
|
rs1554857840
|
|
NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly)
|
rs2132740263
|
|
NM_022124.6(CDH23):c.2956del (p.Leu986fs)
|
rs2132745856
|
|
NM_022124.6(CDH23):c.3211G>A (p.Glu1071Lys)
|
rs2132751512
|
|
NM_022124.6(CDH23):c.3220+1G>A
|
rs1487026359
|
|
NM_022124.6(CDH23):c.3431-1G>A
|
rs2132804878
|
|
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter)
|
rs397517323
|
|
NM_022124.6(CDH23):c.3579+2T>C
|
rs1385831846
|
|
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met)
|
rs377358096
|
|
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)
|
rs876657754
|
|
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del)
|
rs796051860
|
|
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)
|
rs121908350
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
|
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT
|
rs1589384283
|
|
NM_022124.6(CDH23):c.478del (p.Asp160fs)
|
rs2132358279
|
|
NM_022124.6(CDH23):c.5067+1G>A
|
|
|
NM_022124.6(CDH23):c.5149T>C (p.Cys1717Arg)
|
rs552998089
|
|
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs)
|
rs2132929769
|
|
NM_022124.6(CDH23):c.5369-1G>A
|
rs1564791773
|
|
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)
|
rs1060499789
|
|
NM_022124.6(CDH23):c.5924-1G>A
|
rs1841212177
|
|
NM_022124.6(CDH23):c.6049+1G>A
|
rs111033247
|
|
NM_022124.6(CDH23):c.6067_6070dup (p.Gly2024fs)
|
rs1564795354
|
|
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)
|
rs762226905
|
|
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn)
|
rs121908348
|
|
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro)
|
rs762118583
|
|
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs)
|
rs2132953243
|
|
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs)
|
rs2132953252
|
|
NM_022124.6(CDH23):c.6379G>T (p.Val2127Phe)
|
rs765026901
|
|
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp)
|
rs2132954257
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
NM_022124.6(CDH23):c.6831del (p.Lys2278fs)
|
rs1200012430
|
|
NM_022124.6(CDH23):c.683A>T (p.Asp228Val)
|
rs1060499788
|
|
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)
|
rs876657756
|
|
NM_022124.6(CDH23):c.6965A>T (p.Asp2322Val)
|
|
|
NM_022124.6(CDH23):c.6992T>C (p.Val2331Ala)
|
rs2132965891
|
|
NM_022124.6(CDH23):c.7225-1G>A
|
rs1064795722
|
|
NM_022124.6(CDH23):c.7826C>T (p.Pro2609Leu)
|
|
|
NM_022124.6(CDH23):c.7978del (p.Asp2660fs)
|
rs2132983724
|
|
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)
|
rs774559018
|
|
NM_022124.6(CDH23):c.8061C>G (p.Tyr2687Ter)
|
rs1564803868
|
|
NM_022124.6(CDH23):c.8064+1G>A
|
rs1474524543
|
|
NM_022124.6(CDH23):c.8140G>T (p.Asp2714Tyr)
|
rs2132985083
|
|
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro)
|
rs1060499790
|
|
NM_022124.6(CDH23):c.8208_8209del (p.Val2737fs)
|
|
|
NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser)
|
rs397517356
|
|
NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs)
|
rs1564805114
|
|
NM_022124.6(CDH23):c.8377C>T (p.Arg2793Trp)
|
|
|
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg)
|
rs767343063
|
|
NM_022124.6(CDH23):c.9121C>G (p.Leu3041Val)
|
|
|
NM_022124.6(CDH23):c.913del (p.Leu305fs)
|
rs1393567447
|
|
NM_022124.6(CDH23):c.9278+2T>A
|
|
|
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)
|
rs587777449
|
|
NM_022168.4(IFIH1):c.1246A>C (p.Ile416Leu)
|
|
|
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn)
|
rs1320095792
|
|
NM_022168.4(IFIH1):c.2304+1G>T
|
rs762865950
|
|
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu)
|
rs587777446
|
|
NM_022168.4(IFIH1):c.454-1G>A
|
|
|
NM_022168.4(IFIH1):c.716dup (p.Met240fs)
|
rs1558875029
|
|
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)
|
rs923064561
|
|
NM_022336.4(EDAR):c.1135G>A (p.Glu379Lys)
|
|
|
NM_022336.4(EDAR):c.1205G>A (p.Ser402Asn)
|
|
|
NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg)
|
|
|
NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg)
|
rs1696610650
|
|
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)
|
rs121908453
|
|
NM_022336.4(EDAR):c.1293A>G (p.Ile431Met)
|
rs1696608635
|
|
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)
|
rs557166582
|
|
NM_022336.4(EDAR):c.442T>C (p.Cys148Arg)
|
rs1181378221
|
|
NM_022336.4(EDAR):c.719_722del (p.Lys240fs)
|
rs797044436
|
|
NM_022336.4(EDAR):c.985A>T (p.Ile329Phe)
|
rs1553444917
|
|
NM_022336.4(EDAR):c.986T>G (p.Ile329Ser)
|
rs1696805635
|
|
NM_022464.5(SIL1):c.1038del (p.Glu347fs)
|
|
|
NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)
|
|
|
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
|
|
|
NM_022464.5(SIL1):c.353+1G>T
|
|
|
NM_022464.5(SIL1):c.643_645+21del
|
|
|
NM_022464.5(SIL1):c.645+2T>C
|
|
|
NM_022482.5(GZF1):c.1216_1219dup (p.His407fs)
|
rs1227208547
|
|
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln)
|
rs747653875
|
|
NM_022834.5(VWA1):c.1169_1217del (p.Leu390fs)
|
|
|
NM_022834.5(VWA1):c.558C>T (p.Ala186=)
|
|
|
NM_023077.3(COA7):c.97del (p.Asp33fs)
|
|
|
NM_024057.4(NUP37):c.916C>T (p.Arg306Ter)
|
rs746341112
|
|
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter)
|
rs2076017638
|
|
NM_024298.5(MBOAT7):c.1135del (p.Leu379fs)
|
rs2076013475
|
|
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs)
|
rs886041058
|
|
NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)
|
|
|
NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter)
|
rs2076508722
|
|
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter)
|
rs2076453599
|
|
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)
|
rs1264222654
|
|
NM_024298.5(MBOAT7):c.757G>A (p.Glu253Lys)
|
rs868498080
|
|
NM_024298.5(MBOAT7):c.811dup (p.Arg271fs)
|
rs2146989146
|
|
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)
|
rs587780334
|
|
NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro)
|
rs753811189
|
|
NM_024301.5(FKRP):c.1119del (p.Asn374fs)
|
rs1555739041
|
|
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)
|
rs754403441
|
|
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)
|
rs1599939853
|
|
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
|
|
|
NM_024301.5(FKRP):c.1364C>T (p.Ala455Val)
|
rs28937903
|
|
NM_024301.5(FKRP):c.1415del (p.Lys472fs)
|
rs1555739280
|
|
NM_024301.5(FKRP):c.1475del (p.Thr492fs)
|
rs1555739333
|
|
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)
|
rs28937905
|
|
NM_024301.5(FKRP):c.170_186dup (p.Val63fs)
|
rs1555738149
|
|
NM_024301.5(FKRP):c.19C>T (p.Gln7Ter)
|
|
|
NM_024301.5(FKRP):c.206_208del (p.Ser69del)
|
rs2054893955
|
|
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)
|
rs1555738201
|
|
NM_024301.5(FKRP):c.230_234dup (p.Val79fs)
|
rs1555738204
|
|
NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs)
|
rs1555738245
|
|
NM_024301.5(FKRP):c.345_349del (p.Arg116fs)
|
rs1555738311
|
|
NM_024301.5(FKRP):c.464del (p.Leu155fs)
|
rs1555738456
|
|
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)
|
rs727502842
|
|
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)
|
rs554813030
|
|
NM_024301.5(FKRP):c.526C>G (p.Arg176Gly)
|
|
|
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)
|
rs1555738502
|
|
NM_024301.5(FKRP):c.558dup (p.Ala187fs)
|
rs1191737604
|
|
NM_024301.5(FKRP):c.566_570dup (p.Cys191fs)
|
rs1555738568
|
|
NM_024301.5(FKRP):c.656del (p.Gly219fs)
|
rs1555738651
|
|
NM_024301.5(FKRP):c.675del (p.Thr226fs)
|
rs886043706
|
|
NM_024301.5(FKRP):c.686del (p.Arg229fs)
|
rs1555738686
|
|
NM_024301.5(FKRP):c.688_722del (p.Gly230fs)
|
rs1555738675
|
|
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)
|
rs1555738753
|
|
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter)
|
rs752731569
|
|
NM_024301.5(FKRP):c.796del (p.Ala266fs)
|
rs1555738764
|
|
NM_024301.5(FKRP):c.859_869del (p.Phe287fs)
|
rs1555738823
|
|
NM_024301.5(FKRP):c.931G>T (p.Glu311Ter)
|
rs1483781400
|
|
NM_024301.5(FKRP):c.963_964del (p.Leu322fs)
|
rs1555738883
|
|
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)
|
rs886044183
|
|
NM_024417.5(FDXR):c.1309G>A (p.Gly437Ser)
|
rs766147142
|
|
NM_024417.5(FDXR):c.1A>G (p.Met1Val)
|
rs1323016653
|
|
NM_024417.5(FDXR):c.368del (p.Gln123fs)
|
rs2144662023
|
|
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)
|
rs752675360
|
|
NM_024417.5(FDXR):c.619A>T (p.Ile207Phe)
|
rs1598518754
|
|
NM_024570.4(RNASEH2B):c.136+1del
|
rs75186889
|
|
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg)
|
rs75325951
|
|
NM_024570.4(RNASEH2B):c.245-2A>C
|
|
|
NM_024570.4(RNASEH2B):c.245-2A>G
|
|
|
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr)
|
rs1457494794
|
|
NM_024570.4(RNASEH2B):c.322-2A>T
|
|
|
NM_024570.4(RNASEH2B):c.322-3C>G
|
|
|
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)
|
rs786205483
|
|
NM_024570.4(RNASEH2B):c.436+1G>A
|
rs80087649
|
|
NM_024570.4(RNASEH2B):c.510+1del
|
rs1593470515
|
|
NM_024570.4(RNASEH2B):c.511-1G>A
|
|
|
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)
|
rs74555752
|
|
NM_024570.4(RNASEH2B):c.617-2A>G
|
|
|
NM_024570.4(RNASEH2B):c.64+2_64+6del
|
|
|
NM_024570.4(RNASEH2B):c.65-1G>A
|
|
|
NM_024570.4(RNASEH2B):c.698+1G>C
|
|
|
NM_024570.4(RNASEH2B):c.742-1_742delinsAC
|
|
|
NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter)
|
rs1578209906
|
|
NM_024596.5(MCPH1):c.143C>T (p.Thr48Ile)
|
rs745702205
|
|
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
|
rs572671721
|
|
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs)
|
rs1554496609
|
|
NM_024596.5(MCPH1):c.1978C>T (p.Gln660Ter)
|
|
|
NM_024596.5(MCPH1):c.2002del (p.Asp668fs)
|
rs1809112398
|
|
NM_024596.5(MCPH1):c.2127_2128del (p.Ser709_Tyr710insTer)
|
rs2129559817
|
|
NM_024596.5(MCPH1):c.2136+1G>T
|
|
|
NM_024596.5(MCPH1):c.2214+1G>A
|
|
|
NM_024596.5(MCPH1):c.23-1G>C
|
rs1269068071
|
|
NM_024596.5(MCPH1):c.2410A>T (p.Lys804Ter)
|
rs2129580766
|
|
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu)
|
rs587783741
|
|
NM_024596.5(MCPH1):c.625_626del (p.Leu209fs)
|
|
|
NM_024596.5(MCPH1):c.64G>A (p.Glu22Lys)
|
rs774692658
|
|
NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter)
|
rs1856358703
|
|
NM_024649.5(BBS1):c.1009del (p.Glu337fs)
|
|
|
NM_024649.5(BBS1):c.1021delinsGG (p.Arg341fs)
|
|
|
NM_024649.5(BBS1):c.1072del (p.Tyr358fs)
|
rs1057516533
|
|
NM_024649.5(BBS1):c.1076G>C (p.Arg359Pro)
|
|
|
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
|
|
|
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn)
|
rs1565286202
|
|
NM_024649.5(BBS1):c.1110+1G>C
|
rs2134797993
|
|
NM_024649.5(BBS1):c.1110+2T>C
|
|
|
NM_024649.5(BBS1):c.1110+2T>G
|
rs1565286223
|
|
NM_024649.5(BBS1):c.1110+3G>C
|
rs762276925
|
|
NM_024649.5(BBS1):c.1125C>A (p.Ser375Arg)
|
|
|
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)
|
rs786204701
|
|
NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter)
|
rs1021331909
|
|
NM_024649.5(BBS1):c.1180+1G>T
|
|
|
NM_024649.5(BBS1):c.1181-1G>C
|
|
|
NM_024649.5(BBS1):c.1181_1191del
|
|
|
NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter)
|
rs1421044140
|
|
NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs)
|
|
|
NM_024649.5(BBS1):c.124+1G>C
|
rs1057516449
|
|
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)
|
rs1060503690
|
|
NM_024649.5(BBS1):c.1253del (p.Pro418fs)
|
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.130del (p.Ala44fs)
|
rs2134765690
|
|
NM_024649.5(BBS1):c.1339+1G>A
|
|
|
NM_024649.5(BBS1):c.1340-1G>T
|
rs1555049893
|
|
NM_024649.5(BBS1):c.1340-2A>G
|
rs113994180
|
|
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs)
|
rs1555049933
|
|
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer)
|
rs1057516901
|
|
NM_024649.5(BBS1):c.1474-1G>A
|
rs2134836650
|
|
NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter)
|
|
|
NM_024649.5(BBS1):c.1564del (p.Leu522fs)
|
rs2134837160
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
NM_024649.5(BBS1):c.1585dup (p.Ser529fs)
|
rs1555050268
|
|
NM_024649.5(BBS1):c.158dup (p.Leu54fs)
|
rs1313590454
|
|
NM_024649.5(BBS1):c.159+1G>A
|
|
|
NM_024649.5(BBS1):c.159+2T>A
|
rs1057516507
|
|
NM_024649.5(BBS1):c.159+2del
|
rs1348187150
|
|
NM_024649.5(BBS1):c.160-1G>A
|
|
|
NM_024649.5(BBS1):c.1608+1G>A
|
rs1856758582
|
|
NM_024649.5(BBS1):c.1609-2A>T
|
rs1555050394
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
|
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter)
|
rs1856790811
|
|
NM_024649.5(BBS1):c.1695G>A (p.Lys565=)
|
rs1555050427
|
|
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)
|
rs1434577015
|
|
NM_024649.5(BBS1):c.17dup (p.Ser7fs)
|
rs1166022838
|
|
NM_024649.5(BBS1):c.182del (p.Pro61fs)
|
rs1057517007
|
|
NM_024649.5(BBS1):c.1A>C (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.1A>T (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.214A>T (p.Lys72Ter)
|
rs1856007963
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
NM_024649.5(BBS1):c.319dup (p.Ala107fs)
|
rs1856010064
|
|
NM_024649.5(BBS1):c.345dup (p.Lys116Ter)
|
rs1555046611
|
|
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter)
|
rs1856011738
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
NM_024649.5(BBS1):c.433-2A>G
|
rs1555046748
|
|
NM_024649.5(BBS1):c.434dup (p.Asp145fs)
|
|
|
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys)
|
rs772917364
|
|
NM_024649.5(BBS1):c.46dup (p.Ser16fs)
|
|
|
NM_024649.5(BBS1):c.47+2T>C
|
rs1182864166
|
|
NM_024649.5(BBS1):c.47+2T>G
|
|
|
NM_024649.5(BBS1):c.48-1G>T
|
rs751753112
|
|
NM_024649.5(BBS1):c.480-1G>C
|
rs1057516933
|
|
NM_024649.5(BBS1):c.480-2A>C
|
rs1856035426
|
|
NM_024649.5(BBS1):c.519-2A>G
|
rs1057516502
|
|
NM_024649.5(BBS1):c.579dup (p.Ile194fs)
|
|
|
NM_024649.5(BBS1):c.591+1G>A
|
|
|
NM_024649.5(BBS1):c.700G>T (p.Glu234Ter)
|
rs35520756
|
|
NM_024649.5(BBS1):c.70_73del (p.Leu24fs)
|
|
|
NM_024649.5(BBS1):c.71T>A (p.Leu24Ter)
|
rs1855932058
|
|
NM_024649.5(BBS1):c.723+1G>A
|
|
|
NM_024649.5(BBS1):c.723+2T>C
|
|
|
NM_024649.5(BBS1):c.723+2T>G
|
|
|
NM_024649.5(BBS1):c.734_735del (p.Pro245fs)
|
|
|
NM_024649.5(BBS1):c.777del (p.Glu260fs)
|
rs1555047786
|
|
NM_024649.5(BBS1):c.786del (p.Ala264fs)
|
rs1057516330
|
|
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu)
|
rs372939761
|
|
NM_024649.5(BBS1):c.830+1G>T
|
|
|
NM_024649.5(BBS1):c.830+2T>A
|
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332
|
|
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)
|
rs1057516427
|
|
NM_024649.5(BBS1):c.855dup (p.Ile286fs)
|
|
|
NM_024649.5(BBS1):c.913G>A (p.Gly305Ser)
|
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+2T>G
|
|
|
NM_024649.5(BBS1):c.965G>A (p.Trp322Ter)
|
rs1856354695
|
|
NM_024649.5(BBS1):c.966G>A (p.Trp322Ter)
|
|
|
NM_024649.5(BBS1):c.981del (p.Ala328fs)
|
rs1057516371
|
|
NM_024678.6(NARS2):c.637G>T (p.Val213Phe)
|
rs756725793
|
|
NM_024678.6(NARS2):c.727C>T (p.Arg243Ter)
|
rs952741388
|
|
NM_024685.4(BBS10):c.1007C>G (p.Ser336Ter)
|
rs1555202656
|
|
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del)
|
rs750611000
|
|
NM_024685.4(BBS10):c.1012_1013del (p.Glu338fs)
|
rs1057516998
|
|
NM_024685.4(BBS10):c.1024del (p.Ile342fs)
|
rs765561672
|
|
NM_024685.4(BBS10):c.1056del (p.Pro353fs)
|
rs1057516623
|
|
NM_024685.4(BBS10):c.1064del (p.Gln355fs)
|
rs1555202654
|
|
NM_024685.4(BBS10):c.1076del (p.Gln359fs)
|
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1122dup (p.Ile375fs)
|
rs753604828
|
|
NM_024685.4(BBS10):c.1143_1147dup (p.His383fs)
|
rs1555202642
|
|
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
|
rs1368733646
|
|
NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs)
|
rs1555202636
|
|
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
|
|
|
NM_024685.4(BBS10):c.1190_1191del (p.Ile397fs)
|
rs1057517206
|
|
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu)
|
rs199474722
|
|
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)
|
rs1057517156
|
|
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val)
|
rs537219462
|
|
NM_024685.4(BBS10):c.130G>T (p.Glu44Ter)
|
rs1310735399
|
|
NM_024685.4(BBS10):c.1315del (p.Gln439fs)
|
rs1592491950
|
|
NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs)
|
rs1389599028
|
|
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs)
|
rs1389599028
|
|
NM_024685.4(BBS10):c.1338del (p.Phe446fs)
|
rs1389599028
|
|
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)
|
rs759682922
|
|
NM_024685.4(BBS10):c.1408del (p.Gln470fs)
|
rs1555202614
|
|
NM_024685.4(BBS10):c.1447dup (p.Thr483fs)
|
rs759185809
|
|
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs)
|
rs786204705
|
|
NM_024685.4(BBS10):c.1491delinsGA (p.Asp497fs)
|
rs1555202607
|
|
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)
|
rs886043841
|
|
NM_024685.4(BBS10):c.1526_1527dup (p.Thr510fs)
|
|
|
NM_024685.4(BBS10):c.1533del (p.Thr512fs)
|
rs773864735
|
|
NM_024685.4(BBS10):c.1538dup (p.Thr514fs)
|
rs1555202599
|
|
NM_024685.4(BBS10):c.1542del (p.Asp515fs)
|
rs1057517031
|
|
NM_024685.4(BBS10):c.1554_1557del (p.Thr519fs)
|
|
|
NM_024685.4(BBS10):c.157_170dup (p.Leu58fs)
|
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1606del (p.Tyr536fs)
|
|
|
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
|
|
|
NM_024685.4(BBS10):c.1654_1655del (p.Gly552fs)
|
|
|
NM_024685.4(BBS10):c.1664_1668del (p.Ile555fs)
|
rs1057516669
|
|
NM_024685.4(BBS10):c.1676del (p.Tyr559fs)
|
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter)
|
rs1555202583
|
|
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
|
|
|
NM_024685.4(BBS10):c.171_174dup (p.His59fs)
|
|
|
NM_024685.4(BBS10):c.1724del (p.Pro575fs)
|
rs1057516754
|
|
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)
|
rs1565809409
|
|
NM_024685.4(BBS10):c.179T>G (p.Leu60Ter)
|
rs2136091512
|
|
NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter)
|
rs1555202572
|
|
NM_024685.4(BBS10):c.1860dup (p.Cys621fs)
|
|
|
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)
|
rs768385647
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.1952del (p.Lys651fs)
|
rs1555202562
|
|
NM_024685.4(BBS10):c.1959del (p.Pro655fs)
|
rs1057516628
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
NM_024685.4(BBS10):c.197G>A (p.Arg66Lys)
|
|
|
NM_024685.4(BBS10):c.2024dup (p.Thr676fs)
|
|
|
NM_024685.4(BBS10):c.2030del (p.Gly677fs)
|
rs1064796315
|
|
NM_024685.4(BBS10):c.2052del (p.Lys684fs)
|
rs1951753726
|
|
NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter)
|
rs1555202546
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs)
|
rs1951753208
|
|
NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs)
|
rs1555202538
|
|
NM_024685.4(BBS10):c.214_215del (p.Val72fs)
|
rs1057516861
|
|
NM_024685.4(BBS10):c.214_215dup (p.Ser73fs)
|
rs1057516861
|
|
NM_024685.4(BBS10):c.22_35delinsTCAG (p.Ala8fs)
|
|
|
NM_024685.4(BBS10):c.235del (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.251_257dup (p.Phe86fs)
|
rs1555202737
|
|
NM_024685.4(BBS10):c.253del (p.Thr85fs)
|
|
|
NM_024685.4(BBS10):c.254_255insG (p.Phe86fs)
|
|
|
NM_024685.4(BBS10):c.27_37del (p.Ser10fs)
|
rs1278460471
|
|
NM_024685.4(BBS10):c.299_305del (p.Ile100fs)
|
rs1057516701
|
|
NM_024685.4(BBS10):c.310_311del (p.Glu104fs)
|
rs2136091244
|
|
NM_024685.4(BBS10):c.320del (p.Pro107fs)
|
rs1555202731
|
|
NM_024685.4(BBS10):c.330_331del (p.Cys110_Glu111delinsTer)
|
|
|
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter)
|
rs1951771573
|
|
NM_024685.4(BBS10):c.361A>T (p.Lys121Ter)
|
rs1057516240
|
|
NM_024685.4(BBS10):c.365dup (p.Asn122fs)
|
rs774095109
|
|
NM_024685.4(BBS10):c.378G>A (p.Trp126Ter)
|
rs1057516753
|
|
NM_024685.4(BBS10):c.414del (p.Gln139fs)
|
rs1555202717
|
|
NM_024685.4(BBS10):c.445dup (p.Leu149fs)
|
rs770053320
|
|
NM_024685.4(BBS10):c.461del (p.Leu154fs)
|
|
|
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
|
rs553291328
|
|
NM_024685.4(BBS10):c.484G>T (p.Glu162Ter)
|
|
|
NM_024685.4(BBS10):c.488_489del (p.Arg163fs)
|
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
NM_024685.4(BBS10):c.534_535del (p.Phe178fs)
|
rs1555202698
|
|
NM_024685.4(BBS10):c.537T>A (p.Cys179Ter)
|
rs574032499
|
|
NM_024685.4(BBS10):c.568_571del (p.Ile190fs)
|
rs1057516266
|
|
NM_024685.4(BBS10):c.569T>C (p.Ile190Thr)
|
|
|
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter)
|
rs1057517184
|
|
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)
|
rs756632517
|
|
NM_024685.4(BBS10):c.641T>A (p.Val214Glu)
|
|
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs)
|
rs1555202687
|
|
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter)
|
rs1156913215
|
|
NM_024685.4(BBS10):c.784_785del (p.Glu262fs)
|
rs1555202681
|
|
NM_024685.4(BBS10):c.793C>T (p.Gln265Ter)
|
rs775090151
|
|
NM_024685.4(BBS10):c.804_805del (p.Ser269fs)
|
rs1472533012
|
|
NM_024685.4(BBS10):c.807dup (p.Thr270fs)
|
|
|
NM_024685.4(BBS10):c.83_84delinsAG (p.Cys28Ter)
|
rs1555202801
|
|
NM_024685.4(BBS10):c.844_845del (p.Gln282fs)
|
|
|
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)
|
rs1476664656
|
|
NM_024685.4(BBS10):c.858_859dup (p.Gln287fs)
|
rs1057516836
|
|
NM_024685.4(BBS10):c.859C>T (p.Gln287Ter)
|
|
|
NM_024685.4(BBS10):c.899A>C (p.His300Pro)
|
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_024685.4(BBS10):c.923T>C (p.Leu308Ser)
|
|
|
NM_024685.4(BBS10):c.924G>T (p.Leu308Phe)
|
|
|
NM_024685.4(BBS10):c.943C>T (p.Gln315Ter)
|
rs1592492255
|
|
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)
|
rs758522600
|
|
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys)
|
rs771325212
|
|
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter)
|
rs1555202662
|
|
NM_024685.4(BBS10):c.968C>T (p.Ala323Val)
|
|
|
NM_024685.4(BBS10):c.992T>C (p.Val331Ala)
|
|
|
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
|
|
|
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter)
|
rs2105344578
|
|
NM_024753.5(TTC21B):c.1516+1G>A
|
|
|
NM_024753.5(TTC21B):c.1516+2T>G
|
rs748598334
|
|
NM_024753.5(TTC21B):c.152-1G>A
|
rs371396651
|
|
NM_024753.5(TTC21B):c.152-2A>G
|
rs760214276
|
|
NM_024753.5(TTC21B):c.1900-1G>T
|
|
|
NM_024753.5(TTC21B):c.1900-2A>G
|
|
|
NM_024753.5(TTC21B):c.1999C>T (p.Gln667Ter)
|
rs1559056633
|
|
NM_024753.5(TTC21B):c.2138+1G>T
|
|
|
NM_024753.5(TTC21B):c.2461+1G>A
|
|
|
NM_024753.5(TTC21B):c.2868+1G>T
|
rs1685487857
|
|
NM_024753.5(TTC21B):c.2869-2A>G
|
rs1553508246
|
|
NM_024753.5(TTC21B):c.3263+1G>A
|
rs1574070787
|
|
NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter)
|
rs1685080096
|
|
NM_024753.5(TTC21B):c.3684+1G>A
|
|
|
NM_024753.5(TTC21B):c.711-2A>C
|
rs1686972152
|
|
NM_024753.5(TTC21B):c.895-1G>A
|
rs773008707
|
|
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val)
|
rs746459698
|
|
NM_024753.5(TTC21B):c.992G>A (p.Gly331Glu)
|
|
|
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter)
|
rs1576164991
|
|
NM_024989.4(PGAP1):c.1272G>A (p.Lys424=)
|
|
|
NM_024989.4(PGAP1):c.1351-2A>G
|
|
|
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)
|
rs1576086299
|
|
NM_024989.4(PGAP1):c.2287-1G>A
|
|
|
NM_024989.4(PGAP1):c.2338-2A>C
|
rs1559328283
|
|
NM_024989.4(PGAP1):c.2393C>G (p.Ser798Ter)
|
|
|
NM_024989.4(PGAP1):c.289del (p.Ser97fs)
|
|
|
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del)
|
rs587777378
|
|
NM_025009.5(CEP135):c.1980_1984del (p.His661fs)
|
|
|
NM_025009.5(CEP135):c.3102del (p.Glu1034fs)
|
rs1560425301
|
|
NM_025009.5(CEP135):c.3129_3132del (p.Lys1043fs)
|
|
|
NM_025009.5(CEP135):c.3211A>T (p.Lys1071Ter)
|
|
|
NM_025009.5(CEP135):c.3215+2T>C
|
|
|
NM_025074.7(FRAS1):c.10540+3A>G
|
|
|
NM_025074.7(FRAS1):c.11445+5_11445+11delinsC
|
rs1721982733
|
|
NM_025074.7(FRAS1):c.1226dup (p.Gln411fs)
|
rs1727403682
|
|
NM_025074.7(FRAS1):c.13A>T (p.Lys5Ter)
|
|
|
NM_025074.7(FRAS1):c.1931del (p.Gly644fs)
|
rs794727195
|
|
NM_025074.7(FRAS1):c.2811T>A (p.Cys937Ter)
|
rs936338537
|
|
NM_025074.7(FRAS1):c.2869+1G>A
|
rs1731436153
|
|
NM_025074.7(FRAS1):c.2894G>T (p.Cys965Phe)
|
rs1325190118
|
|
NM_025074.7(FRAS1):c.3152-2A>G
|
|
|
NM_025074.7(FRAS1):c.3631C>T (p.Gln1211Ter)
|
rs2110325478
|
|
NM_025074.7(FRAS1):c.382C>T (p.Gln128Ter)
|
|
|
NM_025074.7(FRAS1):c.3975+1G>C
|
|
|
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter)
|
rs1733155852
|
|
NM_025074.7(FRAS1):c.4623C>A (p.Tyr1541Ter)
|
|
|
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)
|
rs775517752
|
|
NM_025074.7(FRAS1):c.5218-1G>T
|
|
|
NM_025074.7(FRAS1):c.5857-5A>G
|
rs1718842724
|
|
NM_025074.7(FRAS1):c.604-1G>C
|
|
|
NM_025074.7(FRAS1):c.6342del (p.Met2115fs)
|
rs2109834757
|
|
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter)
|
rs756005814
|
|
NM_025074.7(FRAS1):c.7258-2A>G
|
|
|
NM_025074.7(FRAS1):c.9123_9124del (p.Thr3041_Ile3042insTer)
|
rs1263546070
|
|
NM_025074.7(FRAS1):c.9575del (p.Pro3192fs)
|
|
|
NM_025114.4(CEP290):c.102+2T>A
|
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)
|
|
|
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)
|
rs2138021345
|
|
NM_025114.4(CEP290):c.1065+1G>A
|
|
|
NM_025114.4(CEP290):c.1065+1G>C
|
rs2138021203
|
|
NM_025114.4(CEP290):c.1169dup (p.Asn390fs)
|
|
|
NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter)
|
|
|
NM_025114.4(CEP290):c.1225del (p.Ile409fs)
|
rs1287628446
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
NM_025114.4(CEP290):c.1258dup (p.Thr420fs)
|
rs868650061
|
|
NM_025114.4(CEP290):c.1310del (p.Lys437fs)
|
rs2137917381
|
|
NM_025114.4(CEP290):c.1347dup (p.Asp450fs)
|
rs774490795
|
|
NM_025114.4(CEP290):c.1359+1G>A
|
rs935130451
|
|
NM_025114.4(CEP290):c.1360-1G>C
|
|
|
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)
|
rs1437841365
|
|
NM_025114.4(CEP290):c.1397_1400del (p.Lys466fs)
|
|
|
NM_025114.4(CEP290):c.1439_1450delinsG (p.Glu480fs)
|
|
|
NM_025114.4(CEP290):c.1453dup (p.Glu485fs)
|
|
|
NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)
|
|
|
NM_025114.4(CEP290):c.1471_1475del (p.Leu491fs)
|
|
|
NM_025114.4(CEP290):c.148C>T (p.His50Tyr)
|
rs878853363
|
|
NM_025114.4(CEP290):c.1495G>T (p.Glu499Ter)
|
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1516del (p.Arg506fs)
|
|
|
NM_025114.4(CEP290):c.1523-1G>T
|
rs1192112844
|
|
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)
|
rs1465414886
|
|
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer)
|
|
|
NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter)
|
|
|
NM_025114.4(CEP290):c.1668del (p.Arg557fs)
|
rs2039204524
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.1824+1G>A
|
|
|
NM_025114.4(CEP290):c.1835_1838del (p.Leu612fs)
|
|
|
NM_025114.4(CEP290):c.1909+1G>T
|
|
|
NM_025114.4(CEP290):c.1910-1G>A
|
|
|
NM_025114.4(CEP290):c.1914del (p.Glu639fs)
|
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.2041_2052+23del
|
rs2137779120
|
|
NM_025114.4(CEP290):c.2052+1G>A
|
|
|
NM_025114.4(CEP290):c.2052+4A>T
|
|
|
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter)
|
rs1440259390
|
|
NM_025114.4(CEP290):c.2176del (p.Ala726fs)
|
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
NM_025114.4(CEP290):c.2217+1G>T
|
|
|
NM_025114.4(CEP290):c.2217+2T>C
|
rs2038702746
|
|
NM_025114.4(CEP290):c.2217+2T>G
|
|
|
NM_025114.4(CEP290):c.2218-2A>G
|
|
|
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer)
|
rs2137710225
|
|
NM_025114.4(CEP290):c.2304del (p.Gly768_Ile769insTer)
|
|
|
NM_025114.4(CEP290):c.2355dup (p.His786fs)
|
|
|
NM_025114.4(CEP290):c.2367+2T>C
|
rs2137707354
|
|
NM_025114.4(CEP290):c.2389_2390del (p.Lys797fs)
|
|
|
NM_025114.4(CEP290):c.2404_2433delinsAC (p.Glu802fs)
|
|
|
NM_025114.4(CEP290):c.2433del (p.Lys811fs)
|
rs2137663442
|
|
NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter)
|
|
|
NM_025114.4(CEP290):c.2483+1G>A
|
rs2137661795
|
|
NM_025114.4(CEP290):c.250+1G>A
|
|
|
NM_025114.4(CEP290):c.251-1G>C
|
rs2138259162
|
|
NM_025114.4(CEP290):c.251-2A>G
|
rs951979448
|
|
NM_025114.4(CEP290):c.2510del (p.Ser837fs)
|
|
|
NM_025114.4(CEP290):c.2586+1G>A
|
|
|
NM_025114.4(CEP290):c.2586_2586+4del
|
|
|
NM_025114.4(CEP290):c.2587-1G>T
|
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.2632dup (p.Ile878fs)
|
|
|
NM_025114.4(CEP290):c.2794dup (p.Ile932fs)
|
|
|
NM_025114.4(CEP290):c.2817+1G>T
|
|
|
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs)
|
rs2040497202
|
|
NM_025114.4(CEP290):c.2933del (p.Asp978fs)
|
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
NM_025114.4(CEP290):c.2991+1G>A
|
|
|
NM_025114.4(CEP290):c.2992-1G>A
|
|
|
NM_025114.4(CEP290):c.2992-2A>C
|
|
|
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)
|
rs2137423759
|
|
NM_025114.4(CEP290):c.3103+1G>A
|
|
|
NM_025114.4(CEP290):c.3104-2A>G
|
rs773386777
|
|
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter)
|
rs1555212271
|
|
NM_025114.4(CEP290):c.3187G>T (p.Glu1063Ter)
|
|
|
NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter)
|
|
|
NM_025114.4(CEP290):c.3234_3235del (p.Lys1078fs)
|
|
|
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
|
rs886042467
|
|
NM_025114.4(CEP290):c.3285del (p.Phe1095fs)
|
rs1017496924
|
|
NM_025114.4(CEP290):c.3461+1G>A
|
rs766952056
|
|
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs)
|
rs2036977719
|
|
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter)
|
rs2036977924
|
|
NM_025114.4(CEP290):c.3573+1G>A
|
|
|
NM_025114.4(CEP290):c.3574-1G>A
|
|
|
NM_025114.4(CEP290):c.3574-2A>G
|
|
|
NM_025114.4(CEP290):c.3596del (p.Leu1199fs)
|
|
|
NM_025114.4(CEP290):c.3606_3615del (p.Lys1202fs)
|
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)
|
|
|
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)
|
|
|
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs)
|
rs2137276301
|
|
NM_025114.4(CEP290):c.3750_3753delinsA (p.Tyr1250_Tyr1251delinsTer)
|
|
|
NM_025114.4(CEP290):c.3783del (p.Lys1261fs)
|
rs2036833257
|
|
NM_025114.4(CEP290):c.3799del (p.Ile1267fs)
|
|
|
NM_025114.4(CEP290):c.3825_3829del (p.Gly1276fs)
|
|
|
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
|
rs761907569
|
|
NM_025114.4(CEP290):c.3897_3901del (p.Lys1299fs)
|
|
|
NM_025114.4(CEP290):c.3917del (p.Asn1306fs)
|
|
|
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter)
|
rs2036816455
|
|
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)
|
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4030-2A>G
|
rs2036722229
|
|
NM_025114.4(CEP290):c.4033del (p.Ile1345fs)
|
|
|
NM_025114.4(CEP290):c.4081_4084del (p.Leu1361fs)
|
|
|
NM_025114.4(CEP290):c.4194+1G>C
|
|
|
NM_025114.4(CEP290):c.4194+2T>A
|
rs2137247685
|
|
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)
|
rs797044604
|
|
NM_025114.4(CEP290):c.4348_4356delinsTC (p.Pro1450fs)
|
|
|
NM_025114.4(CEP290):c.441+1G>A
|
|
|
NM_025114.4(CEP290):c.441+1G>C
|
|
|
NM_025114.4(CEP290):c.442-1G>A
|
|
|
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)
|
rs587779733
|
|
NM_025114.4(CEP290):c.4704+1G>A
|
|
|
NM_025114.4(CEP290):c.4704+1G>T
|
rs1565835538
|
|
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)
|
rs1292516576
|
|
NM_025114.4(CEP290):c.476del (p.Asn159fs)
|
|
|
NM_025114.4(CEP290):c.4771del (p.Gln1591fs)
|
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.4812+1G>A
|
rs2137167420
|
|
NM_025114.4(CEP290):c.4812+1G>T
|
|
|
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
|
|
|
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)
|
|
|
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)
|
|
|
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs)
|
rs756302731
|
|
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs)
|
rs2036306894
|
|
NM_025114.4(CEP290):c.5012+1G>A
|
|
|
NM_025114.4(CEP290):c.5012+2T>G
|
|
|
NM_025114.4(CEP290):c.5013-1G>A
|
|
|
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)
|
|
|
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs)
|
rs766259648
|
|
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs)
|
rs995093343
|
|
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)
|
|
|
NM_025114.4(CEP290):c.516+1G>A
|
|
|
NM_025114.4(CEP290):c.5192dup (p.Ser1732fs)
|
|
|
NM_025114.4(CEP290):c.5223_5224del (p.Lys1742fs)
|
|
|
NM_025114.4(CEP290):c.5227-2A>G
|
|
|
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs)
|
rs775969711
|
|
NM_025114.4(CEP290):c.5242del (p.Leu1748fs)
|
|
|
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)
|
rs748471942
|
|
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter)
|
rs2039993548
|
|
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
|
|
|
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)
|
rs1592807018
|
|
NM_025114.4(CEP290):c.5586+1G>C
|
rs2035880971
|
|
NM_025114.4(CEP290):c.5586+1G>T
|
rs2035880971
|
|
NM_025114.4(CEP290):c.5587-14_5588del
|
|
|
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)
|
rs267606719
|
|
NM_025114.4(CEP290):c.5709+1G>A
|
rs759850328
|
|
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs)
|
rs754728136
|
|
NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
|
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs)
|
rs2136964385
|
|
NM_025114.4(CEP290):c.5794A>T (p.Lys1932Ter)
|
|
|
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
|
|
|
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)
|
rs886042360
|
|
NM_025114.4(CEP290):c.5822del (p.Lys1941fs)
|
|
|
NM_025114.4(CEP290):c.583_584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.584T>G (p.Leu195Ter)
|
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.5855+1G>A
|
|
|
NM_025114.4(CEP290):c.5855+2T>G
|
|
|
NM_025114.4(CEP290):c.5856-1_5856delinsTT
|
rs2136958216
|
|
NM_025114.4(CEP290):c.5856-2A>C
|
|
|
NM_025114.4(CEP290):c.5953del (p.Glu1985fs)
|
|
|
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter)
|
rs2035358840
|
|
NM_025114.4(CEP290):c.5972del (p.Lys1991fs)
|
rs1468269366
|
|
NM_025114.4(CEP290):c.6011+2T>G
|
|
|
NM_025114.4(CEP290):c.6138_6139delinsC (p.Ser2047fs)
|
|
|
NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter)
|
|
|
NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)
|
|
|
NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter)
|
|
|
NM_025114.4(CEP290):c.626del (p.Ser209fs)
|
|
|
NM_025114.4(CEP290):c.6270+1G>T
|
|
|
NM_025114.4(CEP290):c.6270+2T>C
|
|
|
NM_025114.4(CEP290):c.6271-6_6274del
|
rs2034579427
|
|
NM_025114.4(CEP290):c.6276_6280dup (p.Arg2094fs)
|
|
|
NM_025114.4(CEP290):c.6325G>T (p.Glu2109Ter)
|
|
|
NM_025114.4(CEP290):c.6357+1G>A
|
rs1196938557
|
|
NM_025114.4(CEP290):c.635dup (p.Asn212fs)
|
rs769091629
|
|
NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter)
|
rs1555197766
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.6487dup (p.Met2163fs)
|
rs2136748724
|
|
NM_025114.4(CEP290):c.6490del (p.Ala2164fs)
|
|
|
NM_025114.4(CEP290):c.6516del (p.Lys2172fs)
|
rs1057519165
|
|
NM_025114.4(CEP290):c.6624del (p.Arg2208fs)
|
rs2136725569
|
|
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)
|
rs2034232539
|
|
NM_025114.4(CEP290):c.6818+2T>C
|
|
|
NM_025114.4(CEP290):c.6818_6818+1dup
|
rs1060499781
|
|
NM_025114.4(CEP290):c.6831del (p.Lys2278fs)
|
|
|
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
|
|
|
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)
|
rs1592726020
|
|
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)
|
rs2033937635
|
|
NM_025114.4(CEP290):c.6917_6920del (p.Arg2306fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6927del (p.Val2310fs)
|
|
|
NM_025114.4(CEP290):c.6928dup (p.Val2310fs)
|
|
|
NM_025114.4(CEP290):c.6933del (p.Asn2311fs)
|
|
|
NM_025114.4(CEP290):c.6961-1G>T
|
rs2136637204
|
|
NM_025114.4(CEP290):c.6961-3_6965del
|
|
|
NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)
|
|
|
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
|
|
|
NM_025114.4(CEP290):c.7130-1G>A
|
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.7157_7158del (p.Lys2386fs)
|
|
|
NM_025114.4(CEP290):c.7162_7163del (p.Leu2388fs)
|
|
|
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)
|
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7209+1G>A
|
|
|
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)
|
rs763762899
|
|
NM_025114.4(CEP290):c.7233del (p.Glu2412fs)
|
rs2033254449
|
|
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)
|
rs2033254449
|
|
NM_025114.4(CEP290):c.7248del (p.Phe2416fs)
|
|
|
NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)
|
|
|
NM_025114.4(CEP290):c.7256_7259del (p.Ser2419fs)
|
|
|
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)
|
rs1219184437
|
|
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)
|
rs773642187
|
|
NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs)
|
rs1482471100
|
|
NM_025114.4(CEP290):c.7311del (p.Asn2438fs)
|
|
|
NM_025114.4(CEP290):c.7327_7330delinsTATT (p.Glu2443_Lys2444delinsTyrTer)
|
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7341del (p.Lys2447fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.734_735del (p.Glu245fs)
|
rs1592671672
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_025114.4(CEP290):c.832_852+19del
|
rs2138082472
|
|
NM_025114.4(CEP290):c.833del (p.Asn278fs)
|
|
|
NM_025114.4(CEP290):c.853-2A>G
|
|
|
NM_025114.4(CEP290):c.853-2A>T
|
|
|
NM_025114.4(CEP290):c.942+1G>A
|
rs2039897317
|
|
NM_025114.4(CEP290):c.942+1G>C
|
rs2039897317
|
|
NM_025114.4(CEP290):c.943-1G>A
|
rs2138025029
|
|
NM_025114.4(CEP290):c.943-1G>C
|
rs2138025029
|
|
NM_025114.4(CEP290):c.[3904C>T];[4655AAG[2]]
|
|
|
NM_025114.4(CEP290):c.[4655AAG[2]];[6012-12T>A]
|
|
|
NM_025132.4(WDR19):c.1015C>T (p.Gln339Ter)
|
|
|
NM_025132.4(WDR19):c.1357-2A>T
|
rs1221444922
|
|
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)
|
rs886039814
|
|
NM_025132.4(WDR19):c.1442A>G (p.His481Arg)
|
rs1729264976
|
|
NM_025132.4(WDR19):c.1479+2T>C
|
rs756329385
|
|
NM_025132.4(WDR19):c.1559T>C (p.Ile520Thr)
|
rs1730093487
|
|
NM_025132.4(WDR19):c.1778-1G>A
|
rs1730515128
|
|
NM_025132.4(WDR19):c.1778-2A>C
|
rs1730514795
|
|
NM_025132.4(WDR19):c.1983-2A>C
|
|
|
NM_025132.4(WDR19):c.2363+3_2363+6del
|
|
|
NM_025132.4(WDR19):c.2364-2A>G
|
|
|
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)
|
rs775181779
|
|
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs)
|
rs1421636172
|
|
NM_025132.4(WDR19):c.2646-2A>G
|
rs890152763
|
|
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp)
|
rs766616967
|
|
NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter)
|
|
|
NM_025132.4(WDR19):c.3184-2A>G
|
rs1020915921
|
|
NM_025132.4(WDR19):c.3304_3358+36del
|
|
|
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)
|
rs1401145684
|
|
NM_025132.4(WDR19):c.3483+1G>A
|
|
|
NM_025132.4(WDR19):c.3483+1G>C
|
rs2109497413
|
|
NM_025132.4(WDR19):c.3484-2A>C
|
rs1553918403
|
|
NM_025132.4(WDR19):c.716+1G>C
|
|
|
NM_025132.4(WDR19):c.716+2del
|
rs1727827349
|
|
NM_025132.4(WDR19):c.717-1G>C
|
rs2109300967
|
|
NM_025132.4(WDR19):c.891-1_891delinsAT
|
rs2109322692
|
|
NM_025132.4(WDR19):c.961+2T>C
|
rs1728876351
|
|
NM_025216.3(WNT10A):c.-17_13del (p.Met1_His5del)
|
rs746813123
|
|
NM_025216.3(WNT10A):c.1066G>A (p.Gly356Ser)
|
|
|
NM_025216.3(WNT10A):c.1079G>C (p.Arg360Pro)
|
rs893127185
|
|
NM_025216.3(WNT10A):c.113+1G>A
|
|
|
NM_025216.3(WNT10A):c.274G>A (p.Ala92Thr)
|
|
|
NM_025216.3(WNT10A):c.318C>G (p.Asn106Lys)
|
rs1283426045
|
|
NM_025216.3(WNT10A):c.322T>C (p.Ser108Pro)
|
rs1249944381
|
|
NM_025216.3(WNT10A):c.3G>A (p.Met1Ile)
|
|
|
NM_025216.3(WNT10A):c.433G>A (p.Val145Met)
|
rs543063101
|
|
NM_025216.3(WNT10A):c.521T>C (p.Leu174Pro)
|
|
|
NM_025216.3(WNT10A):c.616C>T (p.Gln206Ter)
|
rs1060499588
|
|
NM_025216.3(WNT10A):c.662G>T (p.Gly221Val)
|
|
|
NM_025216.3(WNT10A):c.694del (p.Arg232fs)
|
rs1575233692
|
|
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter)
|
rs773036759
|
|
NM_025216.3(WNT10A):c.949del (p.Ala317fs)
|
rs775990266
|
|
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)
|
rs863225150
|
|
NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)
|
|
|
NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)
|
|
|
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)
|
rs750436680
|
|
NM_030805.4(LMAN2L):c.740G>A (p.Arg247His)
|
rs773649192
|
|
NM_030928.4(CDT1):c.652A>T (p.Lys218Ter)
|
|
|
NM_030928.4(CDT1):c.802C>T (p.Gln268Ter)
|
rs776483689
|
|
NM_030943.4(AMN):c.208-1G>C
|
rs386834169
|
|
NM_030943.4(AMN):c.760+1G>A
|
rs1555381485
|
|
NM_031466.7(TRAPPC9):c.[2415_2416insC];[3349+1G>A]
|
|
|
NM_031471.6(FERMT3):c.1671-4_1671del
|
|
|
NM_031471.6(FERMT3):c.684-1G>A
|
|
|
NM_031471.6(FERMT3):c.786+1G>T
|
|
|
NM_031475.3(ESPN):c.1972G>A (p.Glu658Lys)
|
|
|
NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter)
|
rs1485674839
|
|
NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer)
|
rs754472294
|
|
NM_031475.3(ESPN):c.2539AAG[1] (p.Lys848del)
|
rs1569771486
|
|
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
|
rs193922710
|
|
NM_031885.5(BBS2):c.1027C>T (p.Gln343Ter)
|
|
|
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys)
|
rs1567576202
|
|
NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter)
|
rs1192804794
|
|
NM_031885.5(BBS2):c.1081-1G>A
|
rs1555522000
|
|
NM_031885.5(BBS2):c.1081-1G>T
|
rs1555522000
|
|
NM_031885.5(BBS2):c.1088T>A (p.Leu363Ter)
|
|
|
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs)
|
rs1964269329
|
|
NM_031885.5(BBS2):c.118-1G>T
|
|
|
NM_031885.5(BBS2):c.118-2A>C
|
|
|
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
|
rs1964267396
|
|
NM_031885.5(BBS2):c.1225+2T>C
|
|
|
NM_031885.5(BBS2):c.1225+2dup
|
|
|
NM_031885.5(BBS2):c.1245_1261del (p.Leu416fs)
|
|
|
NM_031885.5(BBS2):c.1260_1262delinsTGTGTAT (p.Glu420fs)
|
|
|
NM_031885.5(BBS2):c.1273_1274insAACTGGAGAGGTT (p.Gly425fs)
|
|
|
NM_031885.5(BBS2):c.1290dup (p.His431fs)
|
rs777420525
|
|
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
|
|
|
NM_031885.5(BBS2):c.1313_1314insT (p.Ser439fs)
|
|
|
NM_031885.5(BBS2):c.1353_1354insTCAGTTTTGTCATCTTT (p.Pro452fs)
|
|
|
NM_031885.5(BBS2):c.1355del (p.Pro452fs)
|
|
|
NM_031885.5(BBS2):c.1371del (p.Lys458fs)
|
rs2144143132
|
|
NM_031885.5(BBS2):c.1397+1G>A
|
rs1225299095
|
|
NM_031885.5(BBS2):c.1397+2T>C
|
|
|
NM_031885.5(BBS2):c.1402C>T (p.Gln468Ter)
|
rs1791390525
|
|
NM_031885.5(BBS2):c.1453_1456dup (p.Leu486fs)
|
|
|
NM_031885.5(BBS2):c.1461del (p.Ser488fs)
|
|
|
NM_031885.5(BBS2):c.1502_1503del (p.Phe501fs)
|
|
|
NM_031885.5(BBS2):c.1527+1G>A
|
rs2144138948
|
|
NM_031885.5(BBS2):c.1527+2T>G
|
|
|
NM_031885.5(BBS2):c.1528-1G>C
|
rs2144135065
|
|
NM_031885.5(BBS2):c.1528G>T (p.Val510Phe)
|
|
|
NM_031885.5(BBS2):c.1544del (p.Gly515fs)
|
rs2144134987
|
|
NM_031885.5(BBS2):c.157del (p.Ser53fs)
|
|
|
NM_031885.5(BBS2):c.1594C>T (p.Gln532Ter)
|
|
|
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs)
|
rs750146549
|
|
NM_031885.5(BBS2):c.1654_1655insCT (p.Gly552fs)
|
|
|
NM_031885.5(BBS2):c.1700del (p.Ile567fs)
|
|
|
NM_031885.5(BBS2):c.1725del (p.Phe575fs)
|
rs2144132609
|
|
NM_031885.5(BBS2):c.1725dup (p.Ala576fs)
|
|
|
NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter)
|
|
|
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs)
|
rs1964155109
|
|
NM_031885.5(BBS2):c.1770del (p.Phe590fs)
|
rs193922711
|
|
NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter)
|
rs1964154734
|
|
NM_031885.5(BBS2):c.1794dup (p.Lys599Ter)
|
|
|
NM_031885.5(BBS2):c.1795_1796del (p.Lys599fs)
|
|
|
NM_031885.5(BBS2):c.1797+1G>A
|
rs1555521489
|
|
NM_031885.5(BBS2):c.1797G>A (p.Lys599=)
|
rs1177431007
|
|
NM_031885.5(BBS2):c.1798-2A>G
|
rs2144130282
|
|
NM_031885.5(BBS2):c.1843dup (p.Ala615fs)
|
rs1199538371
|
|
NM_031885.5(BBS2):c.184dup (p.Leu62fs)
|
|
|
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)
|
rs1555521379
|
|
NM_031885.5(BBS2):c.1911-1G>A
|
rs1555520256
|
|
NM_031885.5(BBS2):c.1911-1G>C
|
|
|
NM_031885.5(BBS2):c.1911-986_1914del
|
|
|
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)
|
rs1963758780
|
|
NM_031885.5(BBS2):c.1944T>A (p.Tyr648Ter)
|
|
|
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter)
|
rs1166717771
|
|
NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter)
|
rs1555520220
|
|
NM_031885.5(BBS2):c.2059+1del
|
|
|
NM_031885.5(BBS2):c.2060-1G>T
|
rs1555520142
|
|
NM_031885.5(BBS2):c.217C>T (p.Gln73Ter)
|
rs199940492
|
|
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)
|
rs121908174
|
|
NM_031885.5(BBS2):c.255del (p.Glu86fs)
|
rs2144193104
|
|
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly)
|
rs1228731722
|
|
NM_031885.5(BBS2):c.278T>A (p.Leu93Ter)
|
|
|
NM_031885.5(BBS2):c.284_285del (p.Gly95fs)
|
|
|
NM_031885.5(BBS2):c.289C>T (p.Gln97Ter)
|
rs1964676925
|
|
NM_031885.5(BBS2):c.302T>A (p.Leu101Ter)
|
rs1964676419
|
|
NM_031885.5(BBS2):c.309_310insCACA (p.Asp104fs)
|
|
|
NM_031885.5(BBS2):c.324_343del (p.Asn108fs)
|
rs1555523964
|
|
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter)
|
rs181736797
|
|
NM_031885.5(BBS2):c.343G>T (p.Glu115Ter)
|
rs1964674209
|
|
NM_031885.5(BBS2):c.345+1G>A
|
|
|
NM_031885.5(BBS2):c.346-1G>C
|
|
|
NM_031885.5(BBS2):c.361_367delinsTTATGCAG (p.Asn121fs)
|
|
|
NM_031885.5(BBS2):c.365del (p.Ala122fs)
|
rs1964569500
|
|
NM_031885.5(BBS2):c.402del (p.Ala136fs)
|
rs1368647604
|
|
NM_031885.5(BBS2):c.406dup (p.Ala136fs)
|
|
|
NM_031885.5(BBS2):c.421_423del (p.Asn141del)
|
|
|
NM_031885.5(BBS2):c.437del (p.Gly146fs)
|
rs1170844318
|
|
NM_031885.5(BBS2):c.440del (p.Phe147fs)
|
rs1433422530
|
|
NM_031885.5(BBS2):c.471+1G>A
|
rs1555523584
|
|
NM_031885.5(BBS2):c.472del
|
rs587777826
|
|
NM_031885.5(BBS2):c.491_501del (p.Asn164fs)
|
|
|
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter)
|
rs1964558577
|
|
NM_031885.5(BBS2):c.534+2T>C
|
|
|
NM_031885.5(BBS2):c.535-1G>A
|
|
|
NM_031885.5(BBS2):c.535-2A>G
|
rs1555523398
|
|
NM_031885.5(BBS2):c.559dup (p.Asp187fs)
|
|
|
NM_031885.5(BBS2):c.55del (p.Val19fs)
|
rs1555524593
|
|
NM_031885.5(BBS2):c.583G>T (p.Glu195Ter)
|
rs1964531867
|
|
NM_031885.5(BBS2):c.619_620del (p.Thr207fs)
|
|
|
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
|
rs773417074
|
|
NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)
|
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_031885.5(BBS2):c.691A>T (p.Lys231Ter)
|
|
|
NM_031885.5(BBS2):c.717+2T>G
|
rs1555522893
|
|
NM_031885.5(BBS2):c.718-2A>C
|
rs1964413705
|
|
NM_031885.5(BBS2):c.721A>T (p.Lys241Ter)
|
rs1964413369
|
|
NM_031885.5(BBS2):c.766G>T (p.Gly256Ter)
|
|
|
NM_031885.5(BBS2):c.774del (p.Asn258fs)
|
rs777218224
|
|
NM_031885.5(BBS2):c.784dup (p.Thr262fs)
|
|
|
NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)
|
|
|
NM_031885.5(BBS2):c.802A>T (p.Lys268Ter)
|
|
|
NM_031885.5(BBS2):c.804+1G>T
|
rs2144162056
|
|
NM_031885.5(BBS2):c.804+1_804+14del
|
rs1202682571
|
|
NM_031885.5(BBS2):c.806T>G (p.Val269Gly)
|
rs886039797
|
|
NM_031885.5(BBS2):c.918_919dup (p.Cys307fs)
|
rs1555522252
|
|
NM_031885.5(BBS2):c.940+1G>A
|
|
|
NM_031885.5(BBS2):c.941-1G>A
|
|
|
NM_031885.5(BBS2):c.941-1G>T
|
rs777234811
|
|
NM_031885.5(BBS2):c.941-2A>C
|
rs878962682
|
|
NM_031885.5(BBS2):c.941-2A>G
|
|
|
NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter)
|
rs559473497
|
|
NM_032040.5(CCDC8):c.203_204del (p.Gln68fs)
|
rs1973248576
|
|
NM_032040.5(CCDC8):c.3G>A (p.Met1Ile)
|
|
|
NM_032040.5(CCDC8):c.4_22dup (p.Val8fs)
|
|
|
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs)
|
rs1973237748
|
|
NM_032040.5(CCDC8):c.817_829del (p.Ser273fs)
|
rs774464372
|
|
NM_032040.5(CCDC8):c.860del (p.Gln287fs)
|
rs778999067
|
|
NM_032040.5(CCDC8):c.976del (p.Asp326fs)
|
|
|
NM_032119.3:c.16079-1455_c.16196+155del
|
|
|
NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter)
|
|
|
NM_032119.4(ADGRV1):c.10198C>T (p.Gln3400Ter)
|
|
|
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)
|
rs1060499795
|
|
NM_032119.4(ADGRV1):c.10974+1G>A
|
rs1754560628
|
|
NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs)
|
rs2150063224
|
|
NM_032119.4(ADGRV1):c.1239-8C>G
|
rs869312178
|
|
NM_032119.4(ADGRV1):c.12403+1G>T
|
rs527236132
|
|
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)
|
rs1758488956
|
|
NM_032119.4(ADGRV1):c.13156del (p.Val4386fs)
|
|
|
NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs)
|
|
|
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr)
|
rs1057519383
|
|
NM_032119.4(ADGRV1):c.14315C>A (p.Ser4772Ter)
|
rs1561740143
|
|
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His)
|
rs1554117973
|
|
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter)
|
rs527236131
|
|
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)
|
rs1561790371
|
|
NM_032119.4(ADGRV1):c.16196+1G>T
|
rs1326895760
|
|
NM_032119.4(ADGRV1):c.16197-1G>T
|
rs1561805689
|
|
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs)
|
rs1764301206
|
|
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs)
|
rs1766797963
|
|
NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs)
|
|
|
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs)
|
rs1580567084
|
|
NM_032119.4(ADGRV1):c.2898+2T>C
|
|
|
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)
|
rs1060499796
|
|
NM_032119.4(ADGRV1):c.3941T>A (p.Leu1314Ter)
|
|
|
NM_032119.4(ADGRV1):c.4271G>A (p.Trp1424Ter)
|
rs2149468550
|
|
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg)
|
rs1580624630
|
|
NM_032119.4(ADGRV1):c.4752+2T>G
|
rs774386059
|
|
NM_032119.4(ADGRV1):c.5665-231C>T
|
|
|
NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs)
|
rs1554081619
|
|
NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs)
|
|
|
NM_032119.4(ADGRV1):c.6610C>T (p.Gln2204Ter)
|
rs1053590019
|
|
NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter)
|
|
|
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter)
|
rs527236133
|
|
NM_032119.4(ADGRV1):c.7610del (p.Ser2537fs)
|
rs2149642220
|
|
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter)
|
rs1554090072
|
|
NM_032119.4(ADGRV1):c.8838dup (p.Thr2947fs)
|
rs2149715612
|
|
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)
|
rs1580845586
|
|
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs)
|
rs772940104
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met)
|
rs772757667
|
|
NM_032193.4(RNASEH2C):c.412C>T (p.Pro138Ser)
|
rs77834781
|
|
NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys)
|
rs1064793942
|
|
NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His)
|
rs571640983
|
|
NM_032856.5(WDR73):c.1096_1097del (p.Leu366fs)
|
rs768820873
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
NM_032856.5(WDR73):c.293T>C (p.Leu98Pro)
|
rs863223396
|
|
NM_032856.5(WDR73):c.41+1G>C
|
|
|
NM_032856.5(WDR73):c.525_565dup (p.Asp189delinsValThrValArgSerTer)
|
rs2141837067
|
|
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
|
|
|
NM_032856.5(WDR73):c.710dup (p.Gly238fs)
|
rs1282630153
|
|
NM_032856.5(WDR73):c.766dup (p.Arg256fs)
|
rs727502864
|
|
NM_032856.5(WDR73):c.767G>A (p.Arg256Gln)
|
rs866551482
|
|
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp)
|
rs1596048227
|
|
NM_032957.4(RTEL1):c.[1346T>C];[3028C>T]
|
|
|
NM_033028.5(BBS4):c.101del (p.Lys34fs)
|
|
|
NM_033028.5(BBS4):c.1036+1G>A
|
rs2151048301
|
|
NM_033028.5(BBS4):c.1037-1G>A
|
|
|
NM_033028.5(BBS4):c.1037-2A>G
|
|
|
NM_033028.5(BBS4):c.103C>T (p.Gln35Ter)
|
|
|
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
|
|
|
NM_033028.5(BBS4):c.1106+1G>A
|
|
|
NM_033028.5(BBS4):c.1106+2T>A
|
rs886041464
|
|
NM_033028.5(BBS4):c.1106+2T>C
|
|
|
NM_033028.5(BBS4):c.1106del (p.Lys369fs)
|
|
|
NM_033028.5(BBS4):c.1118T>A (p.Leu373Ter)
|
|
|
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
|
|
|
NM_033028.5(BBS4):c.1185T>A (p.Tyr395Ter)
|
|
|
NM_033028.5(BBS4):c.1202_1203dup (p.Val402fs)
|
|
|
NM_033028.5(BBS4):c.1205_1208del (p.Val402fs)
|
|
|
NM_033028.5(BBS4):c.1234_1248+5del
|
|
|
NM_033028.5(BBS4):c.1248+1G>A
|
|
|
NM_033028.5(BBS4):c.1248+2T>C
|
rs2151055229
|
|
NM_033028.5(BBS4):c.1248+2dup
|
|
|
NM_033028.5(BBS4):c.1249-3_1259del
|
|
|
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
|
|
|
NM_033028.5(BBS4):c.1288G>T (p.Val430Phe)
|
|
|
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
|
|
|
NM_033028.5(BBS4):c.1308G>A (p.Trp436Ter)
|
|
|
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)
|
rs1281334523
|
|
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
|
|
|
NM_033028.5(BBS4):c.1398del (p.Ala467fs)
|
|
|
NM_033028.5(BBS4):c.1450+2T>C
|
|
|
NM_033028.5(BBS4):c.150del (p.Cys51fs)
|
|
|
NM_033028.5(BBS4):c.210_213del (p.Ile70fs)
|
rs775928735
|
|
NM_033028.5(BBS4):c.220+1G>A
|
|
|
NM_033028.5(BBS4):c.24+1G>A
|
rs759520211
|
|
NM_033028.5(BBS4):c.24+1G>T
|
rs759520211
|
|
NM_033028.5(BBS4):c.24+2T>G
|
|
|
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
|
|
|
NM_033028.5(BBS4):c.289_291delinsTG (p.Ser97fs)
|
rs2065449579
|
|
NM_033028.5(BBS4):c.295C>T (p.Gln99Ter)
|
|
|
NM_033028.5(BBS4):c.332+1G>T
|
|
|
NM_033028.5(BBS4):c.333-1G>C
|
rs2065474809
|
|
NM_033028.5(BBS4):c.333-2A>C
|
|
|
NM_033028.5(BBS4):c.341del (p.Leu114fs)
|
rs750258633
|
|
NM_033028.5(BBS4):c.405G>A (p.Trp135Ter)
|
|
|
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
|
|
|
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg)
|
rs1595935759
|
|
NM_033028.5(BBS4):c.511dup (p.Tyr171fs)
|
|
|
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
|
|
|
NM_033028.5(BBS4):c.584_585dup (p.Glu196fs)
|
|
|
NM_033028.5(BBS4):c.608_609del (p.Glu203fs)
|
|
|
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
|
|
|
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter)
|
rs1060503692
|
|
NM_033028.5(BBS4):c.642+1G>A
|
|
|
NM_033028.5(BBS4):c.642+1G>T
|
|
|
NM_033028.5(BBS4):c.642+2T>G
|
|
|
NM_033028.5(BBS4):c.711+1G>A
|
rs2151044091
|
|
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)
|
rs1459736027
|
|
NM_033028.5(BBS4):c.791G>T (p.Cys264Phe)
|
rs200113494
|
|
NM_033028.5(BBS4):c.819del (p.Leu272_Trp273insTer)
|
|
|
NM_033028.5(BBS4):c.830G>T (p.Gly277Val)
|
rs749017489
|
|
NM_033028.5(BBS4):c.864+1G>A
|
|
|
NM_033028.5(BBS4):c.864+1G>C
|
rs2151047618
|
|
NM_033028.5(BBS4):c.865-3_865-2del
|
|
|
NM_033028.5(BBS4):c.87del (p.Pro30fs)
|
|
|
NM_033028.5(BBS4):c.929del (p.Leu310fs)
|
rs889012564
|
|
NM_033028.5(BBS4):c.95T>A (p.Leu32Ter)
|
|
|
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter)
|
rs770891152
|
|
NM_033056.4(PCDH15):c.4368-15_4368-2del
|
rs1057516560
|
|
NM_033056.4(PCDH15):c.4368-2A>T
|
rs989521806
|
|
NM_033056.4(PCDH15):c.4389del (p.Gln1464fs)
|
rs35296328
|
|
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer)
|
rs1233449433
|
|
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del)
|
rs767526540
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
NM_033056.4(PCDH15):c.5671G>A (p.Glu1891Lys)
|
|
|
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)
|
rs1287068204
|
|
NM_033071.3(SYNE1):c.[20050C>T];[7938G>A]
|
|
|
NM_033071.3(SYNE1):c.[4482+1G>T];[9646A>T]
|
|
|
NM_033109.5(PNPT1):c.137C>G (p.Ala46Gly)
|
rs540498342
|
|
NM_033402.5(LRRCC1):c.105-1G>C
|
rs886039794
|
|
NM_033550.4(TP53RK):c.193A>C (p.Lys65Gln)
|
rs1568972559
|
|
NM_033550.4(TP53RK):c.309dup (p.Val104fs)
|
rs2122963096
|
|
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter)
|
rs1354160835
|
|
NM_033629.6(TREX1):c.143_144del (p.Pro48fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.144dup (p.Thr49fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)
|
rs777034646
|
|
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs)
|
rs74689946
|
|
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)
|
rs1331920811
|
|
NM_033629.6(TREX1):c.23dup (p.Pro10fs)
|
rs781731683
|
|
NM_033629.6(TREX1):c.341G>T (p.Arg114Leu)
|
|
|
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn)
|
rs781051771
|
|
NM_033629.6(TREX1):c.397del (p.Leu133fs)
|
rs78762691
|
|
NM_033629.6(TREX1):c.461A>C (p.Asp154Ala)
|
|
|
NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)
|
|
|
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup)
|
rs74556809
|
|
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter)
|
rs757478752
|
|
NM_033629.6(TREX1):c.79_96del (p.Ser27_Thr32del)
|
rs2107255387
|
|
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter)
|
rs1553820518
|
|
NM_033629.6(TREX1):c.858dup (p.Leu287fs)
|
rs2107265977
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro)
|
rs2108328020
|
|
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg)
|
rs2074912574
|
|
NM_052989.3(IFT122):c.273-281_273-271del
|
rs1559868433
|
|
NM_052989.3(IFT122):c.349+1G>A
|
rs1559869525
|
|
NM_052989.3(IFT122):c.416+2T>G
|
rs2108101855
|
|
NM_052989.3(IFT122):c.896G>A (p.Gly299Asp)
|
rs2077955754
|
|
NM_079420.3(MYL1):c.488T>G (p.Met163Arg)
|
rs1259220084
|
|
NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs)
|
rs1583335192
|
|
NM_080680.3(COL11A2):c.2754del (p.Gly919fs)
|
rs1562336726
|
|
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg)
|
rs550153707
|
|
NM_080680.3(COL11A2):c.3852+1G>T
|
|
|
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)
|
rs121912950
|
|
NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter)
|
rs1404134749
|
|
NM_080680.3(COL11A2):c.968dup (p.Ala324fs)
|
rs1583366400
|
|
NM_130837.3(OPA1):c.2489G>A (p.Trp830Ter)
|
rs1287548904
|
|
NM_130837.3(OPA1):c.2885_2983+8del
|
|
|
NM_130837.3(OPA1):c.2937_2938del (p.Lys979fs)
|
|
|
NM_133261.3(GIPC3):c.3_594del (p.Met1fs)
|
|
|
NM_133261.3(GIPC3):c.937T>C (p.Ter313Gln)
|
rs1466835034
|
|
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs)
|
rs727504825
|
|
NM_133378.4(TTN):c.[98049dupA];[99250C>T]
|
|
|
NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter)
|
rs1194477276
|
|
NM_138387.4(G6PC3):c.325+2T>G
|
|
|
NM_138387.4(G6PC3):c.325G>A (p.Gly109Ser)
|
|
|
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg)
|
rs2144147052
|
|
NM_138387.4(G6PC3):c.416+1G>A
|
|
|
NM_138387.4(G6PC3):c.417-1G>A
|
|
|
NM_138387.4(G6PC3):c.536-2A>G
|
|
|
NM_138425.3(C12orf57):c.-277A>G
|
rs781842057
|
|
NM_138425.3(C12orf57):c.-279C>G
|
rs180837208
|
|
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter)
|
rs757327146
|
|
NM_138691.3(TMC1):c.1209G>A (p.Trp403Ter)
|
rs773851192
|
|
NM_138691.3(TMC1):c.1224+2T>C
|
rs1564555240
|
|
NM_138691.3(TMC1):c.1259G>A (p.Cys420Tyr)
|
rs1564556995
|
|
NM_138691.3(TMC1):c.1363T>C (p.Tyr455His)
|
rs1828278868
|
|
NM_138691.3(TMC1):c.1532C>A (p.Pro511His)
|
rs727503483
|
|
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg)
|
rs121908076
|
|
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn)
|
rs121908072
|
|
NM_138691.3(TMC1):c.1728C>G (p.Asn576Lys)
|
rs761261855
|
|
NM_138691.3(TMC1):c.1750C>T (p.Gln584Ter)
|
|
|
NM_138691.3(TMC1):c.1753_1754insA (p.Gly585fs)
|
rs1828785763
|
|
NM_138691.3(TMC1):c.1763+1G>T
|
rs2118284330
|
|
NM_138691.3(TMC1):c.1788C>A (p.Ser596Arg)
|
rs1290684098
|
|
NM_138691.3(TMC1):c.2002A>G (p.Ser668Gly)
|
rs1828864557
|
|
NM_138691.3(TMC1):c.2035G>A (p.Glu679Lys)
|
rs1828965654
|
|
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile)
|
rs756960425
|
|
NM_138691.3(TMC1):c.64+2T>A
|
|
|
NM_138691.3(TMC1):c.945G>A (p.Trp315Ter)
|
rs1564554255
|
|
NM_138694.4(PKHD1):c.1001T>A (p.Val334Asp)
|
rs1384539153
|
|
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)
|
rs398124475
|
|
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs)
|
rs1554216571
|
|
NM_138694.4(PKHD1):c.10058T>A (p.Leu3353His)
|
|
|
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs)
|
rs1554216538
|
|
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)
|
rs1057517071
|
|
NM_138694.4(PKHD1):c.10124_10125del (p.Glu3375fs)
|
|
|
NM_138694.4(PKHD1):c.10137_10152del (p.Ala3380fs)
|
|
|
NM_138694.4(PKHD1):c.10157-1G>T
|
rs2150418842
|
|
NM_138694.4(PKHD1):c.10157-2A>G
|
rs2150418852
|
|
NM_138694.4(PKHD1):c.10168G>T (p.Glu3390Ter)
|
|
|
NM_138694.4(PKHD1):c.10180T>C (p.Cys3394Arg)
|
|
|
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr)
|
rs1772559884
|
|
NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs)
|
rs760260903
|
|
NM_138694.4(PKHD1):c.10194del (p.Phe3398_Leu3399insTer)
|
rs1554183763
|
|
NM_138694.4(PKHD1):c.10199dup (p.Met3400fs)
|
rs1057517249
|
|
NM_138694.4(PKHD1):c.10265G>A (p.Trp3422Ter)
|
|
|
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
|
|
|
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs)
|
rs1446729264
|
|
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)
|
rs765652131
|
|
NM_138694.4(PKHD1):c.10384_10385del (p.Ile3462fs)
|
|
|
NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter)
|
|
|
NM_138694.4(PKHD1):c.10399C>T (p.Gln3467Ter)
|
|
|
NM_138694.4(PKHD1):c.10411del (p.Val3471fs)
|
rs1554183588
|
|
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly)
|
rs1772510920
|
|
NM_138694.4(PKHD1):c.10418del (p.Phe3473fs)
|
rs1057516835
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs)
|
rs1057517326
|
|
NM_138694.4(PKHD1):c.1048_1049dup (p.Arg351fs)
|
|
|
NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs)
|
rs1554183480
|
|
NM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs)
|
rs1554183446
|
|
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
|
rs752889346
|
|
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs)
|
|
|
NM_138694.4(PKHD1):c.10688T>A (p.Leu3563Ter)
|
|
|
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)
|
rs1057516345
|
|
NM_138694.4(PKHD1):c.10722dup (p.Gly3575fs)
|
|
|
NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter)
|
rs2150413999
|
|
NM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer)
|
rs1554183320
|
|
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)
|
rs148300854
|
|
NM_138694.4(PKHD1):c.10826del (p.Lys3609fs)
|
rs1057516652
|
|
NM_138694.4(PKHD1):c.10845_10846dup (p.Ala3616fs)
|
|
|
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs)
|
rs1554183240
|
|
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
|
rs1562040783
|
|
NM_138694.4(PKHD1):c.10893_10894del (p.Tyr3631_Arg3632delinsTer)
|
rs1554183204
|
|
NM_138694.4(PKHD1):c.10957_10958insG (p.Met3653fs)
|
rs1772389754
|
|
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter)
|
rs1554219429
|
|
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs)
|
rs1057517047
|
|
NM_138694.4(PKHD1):c.10978A>T (p.Lys3660Ter)
|
|
|
NM_138694.4(PKHD1):c.11059C>T (p.Gln3687Ter)
|
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
NM_138694.4(PKHD1):c.11092C>T (p.Gln3698Ter)
|
|
|
NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs)
|
rs1554183012
|
|
NM_138694.4(PKHD1):c.11174+2T>C
|
rs2150410774
|
|
NM_138694.4(PKHD1):c.11174_11175-4798del
|
|
|
NM_138694.4(PKHD1):c.11175-2A>G
|
|
|
NM_138694.4(PKHD1):c.1118+1G>T
|
rs1808826795
|
|
NM_138694.4(PKHD1):c.1119-2A>G
|
|
|
NM_138694.4(PKHD1):c.11212_11213del (p.Ile3738fs)
|
rs1554176517
|
|
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro)
|
rs1320401077
|
|
NM_138694.4(PKHD1):c.11276del (p.Pro3759fs)
|
rs1554176343
|
|
NM_138694.4(PKHD1):c.11281C>T (p.Gln3761Ter)
|
rs1020902474
|
|
NM_138694.4(PKHD1):c.11285C>T (p.Pro3762Leu)
|
|
|
NM_138694.4(PKHD1):c.11310+1G>C
|
rs1365407882
|
|
NM_138694.4(PKHD1):c.11311-2A>G
|
rs1554174903
|
|
NM_138694.4(PKHD1):c.11312_11324del (p.Asn3771fs)
|
|
|
NM_138694.4(PKHD1):c.11330del (p.Leu3777fs)
|
rs1554174796
|
|
NM_138694.4(PKHD1):c.11352G>A (p.Trp3784Ter)
|
|
|
NM_138694.4(PKHD1):c.11387C>A (p.Ser3796Ter)
|
|
|
NM_138694.4(PKHD1):c.11395A>T (p.Lys3799Ter)
|
|
|
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter)
|
rs1215290114
|
|
NM_138694.4(PKHD1):c.11438del (p.Phe3813fs)
|
rs1554169567
|
|
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
|
rs1385935333
|
|
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)
|
|
|
NM_138694.4(PKHD1):c.11507-1G>A
|
rs2150304734
|
|
NM_138694.4(PKHD1):c.11507-2A>T
|
|
|
NM_138694.4(PKHD1):c.1160A>T (p.Asn387Ile)
|
|
|
NM_138694.4(PKHD1):c.11666-2A>G
|
|
|
NM_138694.4(PKHD1):c.11666-593_11752del
|
rs2150277532
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|
NM_138694.4(PKHD1):c.11770_11771dup (p.Val3925fs)
|
|
|
NM_138694.4(PKHD1):c.11770del (p.Thr3924fs)
|
|
|
NM_138694.4(PKHD1):c.11776del (p.Val3926fs)
|
rs1057517324
|
|
NM_138694.4(PKHD1):c.11785+1G>T
|
rs1488844530
|
|
NM_138694.4(PKHD1):c.11785+1_11785+35del
|
rs761547193
|
|
NM_138694.4(PKHD1):c.1189C>T (p.Gln397Ter)
|
|
|
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser)
|
|
|
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)
|
rs1554229312
|
|
NM_138694.4(PKHD1):c.1205del (p.Phe402fs)
|
rs1057517178
|
|
NM_138694.4(PKHD1):c.1216del (p.Glu406fs)
|
|
|
NM_138694.4(PKHD1):c.1227del (p.Thr410fs)
|
rs1808421350
|
|
NM_138694.4(PKHD1):c.1233+1G>A
|
rs886061623
|
|
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)
|
rs1554217913
|
|
NM_138694.4(PKHD1):c.126del (p.Phe42fs)
|
rs760586271
|
|
NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter)
|
|
|
NM_138694.4(PKHD1):c.131-2A>T
|
|
|
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)
|
rs1582013246
|
|
NM_138694.4(PKHD1):c.1396G>A (p.Gly466Arg)
|
|
|
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1409del (p.Gly470fs)
|
rs1057516975
|
|
NM_138694.4(PKHD1):c.1418T>G (p.Ile473Ser)
|
|
|
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro)
|
rs886039888
|
|
NM_138694.4(PKHD1):c.1474C>T (p.Gln492Ter)
|
|
|
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
|
|
|
NM_138694.4(PKHD1):c.1497del (p.Arg499fs)
|
|
|
NM_138694.4(PKHD1):c.1513-1G>A
|
|
|
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter)
|
rs1582002018
|
|
NM_138694.4(PKHD1):c.156dup (p.Asn53fs)
|
rs773991918
|
|
NM_138694.4(PKHD1):c.1597_1598insG (p.His533fs)
|
|
|
NM_138694.4(PKHD1):c.1602+1G>A
|
rs398124476
|
|
NM_138694.4(PKHD1):c.1602+2T>C
|
|
|
NM_138694.4(PKHD1):c.1616T>C (p.Ile539Thr)
|
|
|
NM_138694.4(PKHD1):c.1617del (p.Ile539fs)
|
|
|
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs)
|
rs1554216499
|
|
NM_138694.4(PKHD1):c.1625T>A (p.Leu542Ter)
|
|
|
NM_138694.4(PKHD1):c.1626del (p.Leu542fs)
|
|
|
NM_138694.4(PKHD1):c.1660_1661insA (p.Ser554fs)
|
|
|
NM_138694.4(PKHD1):c.1693+1G>T
|
rs2128209217
|
|
NM_138694.4(PKHD1):c.1693+2T>C
|
|
|
NM_138694.4(PKHD1):c.1694-1G>C
|
rs398124477
|
|
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter)
|
rs1581992845
|
|
NM_138694.4(PKHD1):c.1700_1704dup (p.Ser569fs)
|
|
|
NM_138694.4(PKHD1):c.1728del (p.Ser577fs)
|
|
|
NM_138694.4(PKHD1):c.179_182delinsGACGT (p.Ile60fs)
|
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.1836+1G>A
|
rs780898021
|
|
NM_138694.4(PKHD1):c.1846G>A (p.Ala616Thr)
|
|
|
NM_138694.4(PKHD1):c.1846_1848delinsT (p.Ala616fs)
|
|
|
NM_138694.4(PKHD1):c.1856del (p.Gly619fs)
|
rs1807328375
|
|
NM_138694.4(PKHD1):c.1867A>T (p.Lys623Ter)
|
|
|
NM_138694.4(PKHD1):c.1910del (p.Asn637fs)
|
|
|
NM_138694.4(PKHD1):c.1954_1957dup (p.Pro653fs)
|
|
|
NM_138694.4(PKHD1):c.1964+2T>C
|
|
|
NM_138694.4(PKHD1):c.1965-1G>T
|
|
|
NM_138694.4(PKHD1):c.1965-2A>T
|
rs2128203974
|
|
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp)
|
rs1554214097
|
|
NM_138694.4(PKHD1):c.2017del (p.Asp673fs)
|
rs1581974348
|
|
NM_138694.4(PKHD1):c.2140+1G>C
|
rs1554213853
|
|
NM_138694.4(PKHD1):c.2140+1G>T
|
rs1554213853
|
|
NM_138694.4(PKHD1):c.2141-1G>A
|
rs2128197058
|
|
NM_138694.4(PKHD1):c.2141-2A>C
|
rs1554212403
|
|
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser)
|
rs1806602099
|
|
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg)
|
|
|
NM_138694.4(PKHD1):c.2172del (p.Gly726fs)
|
rs1806601043
|
|
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs)
|
rs2128196889
|
|
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)
|
rs1554212326
|
|
NM_138694.4(PKHD1):c.2188delinsTA (p.Glu730Ter)
|
rs2128196788
|
|
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter)
|
rs1057516608
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2280-2A>G
|
rs780675990
|
|
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs)
|
rs1064796287
|
|
NM_138694.4(PKHD1):c.2346_2352del (p.Arg783fs)
|
rs1554211308
|
|
NM_138694.4(PKHD1):c.2408-2A>G
|
rs1554210085
|
|
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)
|
rs398124480
|
|
NM_138694.4(PKHD1):c.2474_2475insTGGC (p.Ser826fs)
|
|
|
NM_138694.4(PKHD1):c.2503_2504del (p.Thr835fs)
|
|
|
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro)
|
rs1203260419
|
|
NM_138694.4(PKHD1):c.2532C>G (p.Tyr844Ter)
|
|
|
NM_138694.4(PKHD1):c.2542T>A (p.Trp848Arg)
|
|
|
NM_138694.4(PKHD1):c.257del (p.Leu86fs)
|
|
|
NM_138694.4(PKHD1):c.2590del (p.Arg864fs)
|
rs1057516709
|
|
NM_138694.4(PKHD1):c.2592+1G>C
|
rs758812102
|
|
NM_138694.4(PKHD1):c.2592+1G>T
|
|
|
NM_138694.4(PKHD1):c.2639G>C (p.Arg880Pro)
|
|
|
NM_138694.4(PKHD1):c.2648_2649del (p.Val882_Tyr883insTer)
|
|
|
NM_138694.4(PKHD1):c.2664del (p.Gly890fs)
|
rs2128186439
|
|
NM_138694.4(PKHD1):c.2681del (p.Gly894fs)
|
|
|
NM_138694.4(PKHD1):c.2715+1G>A
|
|
|
NM_138694.4(PKHD1):c.2715+1G>C
|
rs1554209188
|
|
NM_138694.4(PKHD1):c.2715+1G>T
|
|
|
NM_138694.4(PKHD1):c.2715+2_2715+14del
|
rs1057516562
|
|
NM_138694.4(PKHD1):c.2747A>C (p.His916Pro)
|
rs1805300035
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.2799_2809del (p.His934fs)
|
|
|
NM_138694.4(PKHD1):c.281+1G>A
|
rs1582154630
|
|
NM_138694.4(PKHD1):c.281+1G>T
|
|
|
NM_138694.4(PKHD1):c.281+2T>G
|
|
|
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)
|
rs786204707
|
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
|
NM_138694.4(PKHD1):c.282-1G>T
|
|
|
NM_138694.4(PKHD1):c.282-2A>T
|
rs1554227278
|
|
NM_138694.4(PKHD1):c.2822-1G>C
|
rs1554208257
|
|
NM_138694.4(PKHD1):c.2850del (p.Thr951fs)
|
|
|
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg)
|
rs773136605
|
|
NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter)
|
rs773136605
|
|
NM_138694.4(PKHD1):c.2855G>A (p.Gly952Glu)
|
|
|
NM_138694.4(PKHD1):c.2887C>T (p.Gln963Ter)
|
|
|
NM_138694.4(PKHD1):c.2916_2917insTGCCGTCTTCTGC (p.Val973fs)
|
|
|
NM_138694.4(PKHD1):c.2941_2943delinsCT (p.Val981fs)
|
|
|
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)
|
rs1581910835
|
|
NM_138694.4(PKHD1):c.2998A>T (p.Arg1000Ter)
|
|
|
NM_138694.4(PKHD1):c.304G>T (p.Glu102Ter)
|
|
|
NM_138694.4(PKHD1):c.3062del (p.Leu1021fs)
|
|
|
NM_138694.4(PKHD1):c.3079del (p.Ser1027fs)
|
|
|
NM_138694.4(PKHD1):c.3082A>T (p.Arg1028Ter)
|
|
|
NM_138694.4(PKHD1):c.3097+2T>C
|
rs1554207834
|
|
NM_138694.4(PKHD1):c.3098-1G>A
|
rs2128169165
|
|
NM_138694.4(PKHD1):c.3098-2A>T
|
|
|
NM_138694.4(PKHD1):c.3118del (p.Arg1040fs)
|
rs1803834984
|
|
NM_138694.4(PKHD1):c.3140_3141del (p.Val1047fs)
|
|
|
NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg)
|
|
|
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs)
|
rs1554204054
|
|
NM_138694.4(PKHD1):c.3165C>G (p.Tyr1055Ter)
|
|
|
NM_138694.4(PKHD1):c.3228+1G>C
|
rs868673401
|
|
NM_138694.4(PKHD1):c.3228+1G>T
|
rs868673401
|
|
NM_138694.4(PKHD1):c.3229-1G>A
|
|
|
NM_138694.4(PKHD1):c.3229-2A>C
|
rs1057516872
|
|
NM_138694.4(PKHD1):c.3287T>C (p.Leu1096Pro)
|
rs1803322601
|
|
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs)
|
rs774250209
|
|
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs)
|
rs1057516922
|
|
NM_138694.4(PKHD1):c.3363_3364insATATA (p.Gly1122delinsIleTer)
|
|
|
NM_138694.4(PKHD1):c.3364+1G>T
|
|
|
NM_138694.4(PKHD1):c.3365-3C>T
|
rs2128153381
|
|
NM_138694.4(PKHD1):c.3369_3370del (p.Glu1124fs)
|
|
|
NM_138694.4(PKHD1):c.3404_3413del (p.Asn1135fs)
|
|
|
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter)
|
rs1554227215
|
|
NM_138694.4(PKHD1):c.3421del (p.Val1141fs)
|
|
|
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs)
|
rs1554200778
|
|
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter)
|
rs886061619
|
|
NM_138694.4(PKHD1):c.3497del (p.Pro1166fs)
|
|
|
NM_138694.4(PKHD1):c.349del (p.Ser117fs)
|
|
|
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs)
|
rs2128152615
|
|
NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu)
|
rs1581827172
|
|
NM_138694.4(PKHD1):c.3548_3557del (p.Ile1183fs)
|
|
|
NM_138694.4(PKHD1):c.3560+1G>T
|
|
|
NM_138694.4(PKHD1):c.3561-1G>A
|
rs1802457333
|
|
NM_138694.4(PKHD1):c.3561-2A>G
|
rs1057516982
|
|
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
|
|
|
NM_138694.4(PKHD1):c.3582C>A (p.Tyr1194Ter)
|
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.3726_3727del (p.Leu1242fs)
|
|
|
NM_138694.4(PKHD1):c.3743G>A (p.Trp1248Ter)
|
|
|
NM_138694.4(PKHD1):c.3752_3753insTT (p.Leu1252fs)
|
|
|
NM_138694.4(PKHD1):c.3762_3763insG (p.Pro1255fs)
|
rs1802132538
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.3814_3844del (p.Trp1272fs)
|
rs1554199349
|
|
NM_138694.4(PKHD1):c.3830_3843dup (p.Pro1282fs)
|
|
|
NM_138694.4(PKHD1):c.3864dup (p.Lys1289fs)
|
|
|
NM_138694.4(PKHD1):c.3886_3887del (p.Glu1296fs)
|
|
|
NM_138694.4(PKHD1):c.390+1G>A
|
rs752327566
|
|
NM_138694.4(PKHD1):c.390+1del
|
rs1554227162
|
|
NM_138694.4(PKHD1):c.3932_3933del (p.Thr1311fs)
|
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.3943del (p.Ser1314_Leu1315insTer)
|
rs1554199226
|
|
NM_138694.4(PKHD1):c.3946_3947del (p.Ser1316fs)
|
|
|
NM_138694.4(PKHD1):c.4002_4003del (p.Asn1335fs)
|
|
|
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs)
|
rs1802073525
|
|
NM_138694.4(PKHD1):c.4005delinsGGA (p.Asn1335fs)
|
|
|
NM_138694.4(PKHD1):c.4017_4018del (p.Glu1339fs)
|
|
|
NM_138694.4(PKHD1):c.407dup (p.Pro137fs)
|
|
|
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)
|
rs752305132
|
|
NM_138694.4(PKHD1):c.4121del (p.Gly1374fs)
|
rs1057516594
|
|
NM_138694.4(PKHD1):c.4141del (p.Val1381fs)
|
rs778537772
|
|
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter)
|
rs1226122841
|
|
NM_138694.4(PKHD1):c.4155del (p.Phe1385fs)
|
|
|
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr)
|
rs2128144732
|
|
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
|
rs1581809655
|
|
NM_138694.4(PKHD1):c.4209_4232del (p.Gly1404_Gly1411del)
|
rs1802029655
|
|
NM_138694.4(PKHD1):c.421del (p.Gln141fs)
|
|
|
NM_138694.4(PKHD1):c.4220T>C (p.Leu1407Pro)
|
|
|
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)
|
rs1464962854
|
|
NM_138694.4(PKHD1):c.4274T>G (p.Leu1425Arg)
|
|
|
NM_138694.4(PKHD1):c.4292G>T (p.Cys1431Phe)
|
rs753307105
|
|
NM_138694.4(PKHD1):c.4293T>A (p.Cys1431Ter)
|
|
|
NM_138694.4(PKHD1):c.4293T>G (p.Cys1431Trp)
|
|
|
NM_138694.4(PKHD1):c.429T>G (p.Tyr143Ter)
|
rs1811318008
|
|
NM_138694.4(PKHD1):c.4322_4323dup (p.Leu1442fs)
|
rs1802018167
|
|
NM_138694.4(PKHD1):c.4347_4348del (p.Asp1450fs)
|
|
|
NM_138694.4(PKHD1):c.4361del (p.Gly1454fs)
|
|
|
NM_138694.4(PKHD1):c.4414_4418del (p.Cys1472fs)
|
|
|
NM_138694.4(PKHD1):c.4428C>A (p.Cys1476Ter)
|
|
|
NM_138694.4(PKHD1):c.448+2T>C
|
rs1057517270
|
|
NM_138694.4(PKHD1):c.449-1G>A
|
|
|
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)
|
rs1581806935
|
|
NM_138694.4(PKHD1):c.4537_4563delinsA (p.Ala1513fs)
|
|
|
NM_138694.4(PKHD1):c.453del (p.Lys151fs)
|
|
|
NM_138694.4(PKHD1):c.4557del (p.Phe1519fs)
|
rs1057516382
|
|
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs)
|
rs1057516691
|
|
NM_138694.4(PKHD1):c.458T>C (p.Ile153Thr)
|
rs1810936262
|
|
NM_138694.4(PKHD1):c.4593del (p.Phe1531fs)
|
|
|
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter)
|
rs1057516263
|
|
NM_138694.4(PKHD1):c.4643_4644del (p.His1548fs)
|
|
|
NM_138694.4(PKHD1):c.4644_4653del (p.His1548fs)
|
|
|
NM_138694.4(PKHD1):c.4649del (p.Leu1550fs)
|
|
|
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs)
|
rs1801949246
|
|
NM_138694.4(PKHD1):c.4677T>A (p.Tyr1559Ter)
|
|
|
NM_138694.4(PKHD1):c.4682G>A (p.Cys1561Tyr)
|
|
|
NM_138694.4(PKHD1):c.468del (p.Val155_Tyr156insTer)
|
rs1554224707
|
|
NM_138694.4(PKHD1):c.4698del (p.Arg1567fs)
|
|
|
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs)
|
rs727504087
|
|
NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer)
|
rs1057516626
|
|
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs)
|
rs2128142414
|
|
NM_138694.4(PKHD1):c.4838G>T (p.Cys1613Phe)
|
|
|
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)
|
rs267601070
|
|
NM_138694.4(PKHD1):c.4890del (p.Asn1631fs)
|
rs1057516885
|
|
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs)
|
rs2128142132
|
|
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs)
|
rs1057517220
|
|
NM_138694.4(PKHD1):c.5060T>G (p.Ile1687Arg)
|
|
|
NM_138694.4(PKHD1):c.5065del (p.Met1689fs)
|
rs1554198072
|
|
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter)
|
rs1801882752
|
|
NM_138694.4(PKHD1):c.5081_5094del (p.Gly1694fs)
|
|
|
NM_138694.4(PKHD1):c.5115_5116insTATAAGAGACA (p.Val1706fs)
|
|
|
NM_138694.4(PKHD1):c.5116_5117insCATTTCTTATT (p.Val1706fs)
|
|
|
NM_138694.4(PKHD1):c.514_515delinsT (p.Glu172fs)
|
|
|
NM_138694.4(PKHD1):c.5151del (p.Gly1718fs)
|
|
|
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
|
|
|
NM_138694.4(PKHD1):c.519C>A (p.Tyr173Ter)
|
|
|
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
|
|
|
NM_138694.4(PKHD1):c.5204delinsTGTCTT (p.Arg1735fs)
|
|
|
NM_138694.4(PKHD1):c.5230A>C (p.Asn1744His)
|
rs2128141336
|
|
NM_138694.4(PKHD1):c.5236+1G>A
|
rs398124487
|
|
NM_138694.4(PKHD1):c.5236+1G>C
|
|
|
NM_138694.4(PKHD1):c.5236+2T>C
|
|
|
NM_138694.4(PKHD1):c.5237-2A>C
|
rs1554197152
|
|
NM_138694.4(PKHD1):c.5249del (p.Gly1750fs)
|
|
|
NM_138694.4(PKHD1):c.527+1del
|
rs1057516697
|
|
NM_138694.4(PKHD1):c.53-2A>G
|
rs1554228601
|
|
NM_138694.4(PKHD1):c.53-3C>A
|
|
|
NM_138694.4(PKHD1):c.5336A>G (p.Asn1779Ser)
|
|
|
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)
|
|
|
NM_138694.4(PKHD1):c.5355_5356del (p.Phe1785fs)
|
|
|
NM_138694.4(PKHD1):c.5380+1G>C
|
|
|
NM_138694.4(PKHD1):c.5380+2T>G
|
rs1801591463
|
|
NM_138694.4(PKHD1):c.5381-7_5385del
|
rs2128130561
|
|
NM_138694.4(PKHD1):c.538_542delinsC (p.Leu180fs)
|
|
|
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs)
|
rs1554194574
|
|
NM_138694.4(PKHD1):c.5416G>T (p.Glu1806Ter)
|
|
|
NM_138694.4(PKHD1):c.5441dup (p.His1814fs)
|
rs908880474
|
|
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)
|
rs1554194511
|
|
NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter)
|
rs1057516692
|
|
NM_138694.4(PKHD1):c.5457_5458del (p.Cys1819_Asp1820delinsTer)
|
rs1554194504
|
|
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs)
|
rs1562140771
|
|
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)
|
rs913487671
|
|
NM_138694.4(PKHD1):c.5600+1G>A
|
rs1581763359
|
|
NM_138694.4(PKHD1):c.5609T>A (p.Leu1870Ter)
|
|
|
NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter)
|
rs1810710453
|
|
NM_138694.4(PKHD1):c.5611G>T (p.Glu1871Ter)
|
|
|
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
|
|
|
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly)
|
|
|
NM_138694.4(PKHD1):c.5663_5666del (p.Thr1888fs)
|
|
|
NM_138694.4(PKHD1):c.5688_5691dup (p.Asn1898fs)
|
rs1554191298
|
|
NM_138694.4(PKHD1):c.5699_5706del (p.Pro1900fs)
|
|
|
NM_138694.4(PKHD1):c.5738del (p.Gly1913fs)
|
|
|
NM_138694.4(PKHD1):c.573C>A (p.Cys191Ter)
|
|
|
NM_138694.4(PKHD1):c.5751+1G>A
|
rs775638588
|
|
NM_138694.4(PKHD1):c.5751+2T>G
|
|
|
NM_138694.4(PKHD1):c.5752-1G>C
|
|
|
NM_138694.4(PKHD1):c.5752-2A>G
|
rs1057516407
|
|
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs)
|
rs1791765505
|
|
NM_138694.4(PKHD1):c.5776del (p.Arg1926fs)
|
rs1791763088
|
|
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)
|
|
|
NM_138694.4(PKHD1):c.5792del (p.Thr1931fs)
|
|
|
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs)
|
|
|
NM_138694.4(PKHD1):c.5808_5809del (p.Glu1937fs)
|
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn)
|
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs)
|
rs1554162725
|
|
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser)
|
rs1791737049
|
|
NM_138694.4(PKHD1):c.5909-2del
|
rs1334913120
|
|
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)
|
rs1583446897
|
|
NM_138694.4(PKHD1):c.5965dup (p.Leu1989fs)
|
|
|
NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly)
|
rs1554144359
|
|
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr)
|
rs1210348558
|
|
NM_138694.4(PKHD1):c.6007_6008insGTGTGATCTG (p.Lys2003delinsSerValIleTer)
|
|
|
NM_138694.4(PKHD1):c.602+1G>A
|
rs1554223950
|
|
NM_138694.4(PKHD1):c.602+2T>A
|
rs2128231798
|
|
NM_138694.4(PKHD1):c.602+5G>A
|
|
|
NM_138694.4(PKHD1):c.603-1G>A
|
rs1554223403
|
|
NM_138694.4(PKHD1):c.6054C>G (p.Tyr2018Ter)
|
|
|
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys)
|
rs1554144226
|
|
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)
|
rs1057516804
|
|
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs)
|
rs2127768101
|
|
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
|
|
|
NM_138694.4(PKHD1):c.6121+1G>T
|
rs2127767937
|
|
NM_138694.4(PKHD1):c.6122-3_6122-1delinsA
|
rs1057517378
|
|
NM_138694.4(PKHD1):c.6125C>A (p.Ser2042Ter)
|
|
|
NM_138694.4(PKHD1):c.6125del (p.Ser2042fs)
|
|
|
NM_138694.4(PKHD1):c.6147delinsAGATGTGTATAAGAGCAG (p.Cys2050fs)
|
|
|
NM_138694.4(PKHD1):c.6187del (p.Ala2063fs)
|
|
|
NM_138694.4(PKHD1):c.6273_6285delinsGAG (p.Glu2092fs)
|
|
|
NM_138694.4(PKHD1):c.6284_6285insAGATG (p.Val2096fs)
|
|
|
NM_138694.4(PKHD1):c.6285del (p.Val2096fs)
|
|
|
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs)
|
rs910497248
|
|
NM_138694.4(PKHD1):c.6300_6316del (p.Gln2100fs)
|
rs1554134080
|
|
NM_138694.4(PKHD1):c.6312_6313del (p.Tyr2105fs)
|
|
|
NM_138694.4(PKHD1):c.6319_6321delinsT (p.Lys2107fs)
|
|
|
NM_138694.4(PKHD1):c.6332+1G>A
|
|
|
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter)
|
rs1783006864
|
|
NM_138694.4(PKHD1):c.6390del (p.Thr2131fs)
|
rs1783005266
|
|
NM_138694.4(PKHD1):c.6395_6396del (p.Val2132fs)
|
|
|
NM_138694.4(PKHD1):c.6410_6423del (p.Arg2137fs)
|
rs2127663896
|
|
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter)
|
rs557437764
|
|
NM_138694.4(PKHD1):c.6490+1G>A
|
rs1554133736
|
|
NM_138694.4(PKHD1):c.6491-1G>A
|
rs1554132790
|
|
NM_138694.4(PKHD1):c.6491-2A>G
|
rs2127653183
|
|
NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter)
|
rs1057516706
|
|
NM_138694.4(PKHD1):c.6603del (p.Lys2202fs)
|
|
|
NM_138694.4(PKHD1):c.6617_6620delinsATAAAGACAGT (p.Phe2206fs)
|
|
|
NM_138694.4(PKHD1):c.6619_6620del (p.Gln2207fs)
|
|
|
NM_138694.4(PKHD1):c.661del (p.Tyr221fs)
|
|
|
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)
|
rs1554223332
|
|
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu)
|
rs369925690
|
|
NM_138694.4(PKHD1):c.6667_6668delinsTGA (p.Val2223Ter)
|
|
|
NM_138694.4(PKHD1):c.6683-2A>C
|
rs2127637373
|
|
NM_138694.4(PKHD1):c.6683-2A>G
|
|
|
NM_138694.4(PKHD1):c.6702C>A (p.Cys2234Ter)
|
|
|
NM_138694.4(PKHD1):c.6761T>G (p.Val2254Gly)
|
|
|
NM_138694.4(PKHD1):c.6776del (p.Phe2259fs)
|
|
|
NM_138694.4(PKHD1):c.6793C>T (p.His2265Tyr)
|
|
|
NM_138694.4(PKHD1):c.6809-2A>G
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6809-2A>T
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs)
|
rs760921148
|
|
NM_138694.4(PKHD1):c.6865+1G>A
|
|
|
NM_138694.4(PKHD1):c.6865+2T>C
|
|
|
NM_138694.4(PKHD1):c.6866-16_6866del
|
rs1554299291
|
|
NM_138694.4(PKHD1):c.6866-1G>C
|
rs1781631365
|
|
NM_138694.4(PKHD1):c.6866-1G>T
|
|
|
NM_138694.4(PKHD1):c.6866-2A>T
|
|
|
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA
|
rs1562581286
|
|
NM_138694.4(PKHD1):c.6870G>A (p.Trp2290Ter)
|
|
|
NM_138694.4(PKHD1):c.6893G>T (p.Arg2298Ile)
|
rs1781623229
|
|
NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter)
|
rs1057516441
|
|
NM_138694.4(PKHD1):c.6952A>C (p.Thr2318Pro)
|
rs2127622153
|
|
NM_138694.4(PKHD1):c.6996+2del
|
rs2127621751
|
|
NM_138694.4(PKHD1):c.6996+4A>T
|
|
|
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
|
|
|
NM_138694.4(PKHD1):c.700A>T (p.Lys234Ter)
|
|
|
NM_138694.4(PKHD1):c.703_704insATAAA (p.Gly235fs)
|
|
|
NM_138694.4(PKHD1):c.7060_7061del (p.Gln2354fs)
|
|
|
NM_138694.4(PKHD1):c.707+2T>C
|
rs1554222939
|
|
NM_138694.4(PKHD1):c.708-1G>A
|
rs1554222508
|
|
NM_138694.4(PKHD1):c.708-2A>C
|
rs753492974
|
|
NM_138694.4(PKHD1):c.7081_7082del (p.Thr2361fs)
|
|
|
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter)
|
rs1057516221
|
|
NM_138694.4(PKHD1):c.7108del (p.Arg2370fs)
|
|
|
NM_138694.4(PKHD1):c.7109+2T>A
|
|
|
NM_138694.4(PKHD1):c.7109+3A>C
|
rs1583202788
|
|
NM_138694.4(PKHD1):c.7128C>G (p.Tyr2376Ter)
|
|
|
NM_138694.4(PKHD1):c.7159_7160del (p.Thr2387fs)
|
|
|
NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs)
|
rs2127551949
|
|
NM_138694.4(PKHD1):c.7215+1G>T
|
|
|
NM_138694.4(PKHD1):c.7218delinsGTGTATAAGAGACAG (p.Ile2406fs)
|
|
|
NM_138694.4(PKHD1):c.7251_7252delinsT (p.Val2419fs)
|
|
|
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7270del (p.Asp2424fs)
|
rs1057516596
|
|
NM_138694.4(PKHD1):c.7300del (p.Ala2434fs)
|
|
|
NM_138694.4(PKHD1):c.7310C>A (p.Ser2437Ter)
|
|
|
NM_138694.4(PKHD1):c.7311delinsTT (p.Val2438fs)
|
|
|
NM_138694.4(PKHD1):c.7325T>A (p.Leu2442Ter)
|
|
|
NM_138694.4(PKHD1):c.7328T>A (p.Leu2443Ter)
|
|
|
NM_138694.4(PKHD1):c.7348A>T (p.Lys2450Ter)
|
|
|
NM_138694.4(PKHD1):c.7350+1G>T
|
rs1057516588
|
|
NM_138694.4(PKHD1):c.7350+2T>A
|
|
|
NM_138694.4(PKHD1):c.7378A>T (p.Lys2460Ter)
|
|
|
NM_138694.4(PKHD1):c.7393_7404delinsGACA (p.Trp2465fs)
|
|
|
NM_138694.4(PKHD1):c.7394G>A (p.Trp2465Ter)
|
rs2151778258
|
|
NM_138694.4(PKHD1):c.7466C>G (p.Ser2489Ter)
|
|
|
NM_138694.4(PKHD1):c.7486+1G>T
|
rs1554282419
|
|
NM_138694.4(PKHD1):c.7486G>A (p.Gly2496Ser)
|
|
|
NM_138694.4(PKHD1):c.7487-1G>C
|
|
|
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter)
|
rs1057516768
|
|
NM_138694.4(PKHD1):c.7512_7522del (p.Gln2504fs)
|
|
|
NM_138694.4(PKHD1):c.7531_7532del (p.Ser2511fs)
|
|
|
NM_138694.4(PKHD1):c.7591_7592del (p.Leu2531fs)
|
|
|
NM_138694.4(PKHD1):c.7592T>C (p.Leu2531Pro)
|
rs1775360219
|
|
NM_138694.4(PKHD1):c.7608_7609insGACCCATCCA (p.Ser2537fs)
|
|
|
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs)
|
rs1775351921
|
|
NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys)
|
rs886042259
|
|
NM_138694.4(PKHD1):c.7661C>A (p.Ser2554Ter)
|
rs1775347142
|
|
NM_138694.4(PKHD1):c.7680_7681del (p.His2561fs)
|
|
|
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter)
|
rs1057516751
|
|
NM_138694.4(PKHD1):c.7713del (p.His2572fs)
|
rs1057517078
|
|
NM_138694.4(PKHD1):c.7721T>G (p.Met2574Arg)
|
rs768265052
|
|
NM_138694.4(PKHD1):c.7721dup (p.Met2574fs)
|
|
|
NM_138694.4(PKHD1):c.7733+1G>C
|
|
|
NM_138694.4(PKHD1):c.7758T>A (p.Tyr2586Ter)
|
|
|
NM_138694.4(PKHD1):c.776C>G (p.Ser259Ter)
|
|
|
NM_138694.4(PKHD1):c.778+1G>C
|
rs753471298
|
|
NM_138694.4(PKHD1):c.779-1G>A
|
|
|
NM_138694.4(PKHD1):c.779-2A>G
|
rs2128224166
|
|
NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs)
|
rs1057516690
|
|
NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer)
|
rs1057516607
|
|
NM_138694.4(PKHD1):c.7893dup (p.Ile2632fs)
|
|
|
NM_138694.4(PKHD1):c.790G>A (p.Val264Met)
|
rs1809647915
|
|
NM_138694.4(PKHD1):c.7912-1G>A
|
rs1160209891
|
|
NM_138694.4(PKHD1):c.7912-2A>G
|
rs1554271235
|
|
NM_138694.4(PKHD1):c.7929del (p.Asp2643fs)
|
|
|
NM_138694.4(PKHD1):c.792_793del (p.Phe265fs)
|
|
|
NM_138694.4(PKHD1):c.7963C>A (p.His2655Asn)
|
|
|
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs)
|
rs1583013487
|
|
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro)
|
rs778592523
|
|
NM_138694.4(PKHD1):c.8020_8021del (p.Leu2674fs)
|
rs1771488619
|
|
NM_138694.4(PKHD1):c.8028del (p.Pro2677fs)
|
|
|
NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter)
|
rs1057516490
|
|
NM_138694.4(PKHD1):c.8068T>G (p.Trp2690Gly)
|
|
|
NM_138694.4(PKHD1):c.8069G>C (p.Trp2690Ser)
|
|
|
NM_138694.4(PKHD1):c.8069G>T (p.Trp2690Leu)
|
rs768660365
|
|
NM_138694.4(PKHD1):c.8089_8090del (p.Arg2697fs)
|
|
|
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro)
|
rs1771471295
|
|
NM_138694.4(PKHD1):c.8102_8107+8del
|
rs2151627285
|
|
NM_138694.4(PKHD1):c.8107+1G>C
|
rs1554270880
|
|
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs)
|
rs1769233531
|
|
NM_138694.4(PKHD1):c.8162del (p.Pro2721fs)
|
rs1057516775
|
|
NM_138694.4(PKHD1):c.8162dup (p.Thr2722fs)
|
|
|
NM_138694.4(PKHD1):c.8173+2T>G
|
rs2151549200
|
|
NM_138694.4(PKHD1):c.8174-2A>G
|
|
|
NM_138694.4(PKHD1):c.8174-2A>T
|
rs1582925274
|
|
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs)
|
rs886042676
|
|
NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter)
|
rs2151512212
|
|
NM_138694.4(PKHD1):c.8206T>A (p.Trp2736Arg)
|
|
|
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)
|
rs794727756
|
|
NM_138694.4(PKHD1):c.8241del (p.Gly2748fs)
|
|
|
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val)
|
rs1554263076
|
|
NM_138694.4(PKHD1):c.8303-2A>G
|
rs1554243821
|
|
NM_138694.4(PKHD1):c.8312T>C (p.Val2771Ala)
|
rs1793719203
|
|
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)
|
|
|
NM_138694.4(PKHD1):c.8426G>A (p.Gly2809Glu)
|
rs2151261317
|
|
NM_138694.4(PKHD1):c.842G>A (p.Gly281Glu)
|
rs1809634616
|
|
NM_138694.4(PKHD1):c.8440+1G>A
|
rs1793689014
|
|
NM_138694.4(PKHD1):c.8441-1G>A
|
|
|
NM_138694.4(PKHD1):c.847T>A (p.Phe283Ile)
|
|
|
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)
|
rs375145340
|
|
NM_138694.4(PKHD1):c.8497T>C (p.Ser2833Pro)
|
rs1790936941
|
|
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly)
|
rs200432861
|
|
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter)
|
rs2128223990
|
|
NM_138694.4(PKHD1):c.8543del (p.Pro2848fs)
|
rs746625317
|
|
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
|
rs1554232224
|
|
NM_138694.4(PKHD1):c.8555-1G>A
|
|
|
NM_138694.4(PKHD1):c.8555-2A>G
|
rs1020621286
|
|
NM_138694.4(PKHD1):c.8578del (p.Tyr2860fs)
|
|
|
NM_138694.4(PKHD1):c.8589T>A (p.Tyr2863Ter)
|
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.8604del (p.Ser2867_Trp2868insTer)
|
|
|
NM_138694.4(PKHD1):c.8641A>T (p.Arg2881Ter)
|
|
|
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del)
|
rs1554221478
|
|
NM_138694.4(PKHD1):c.8677dup (p.His2893fs)
|
rs1554221465
|
|
NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs)
|
rs1582479341
|
|
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs)
|
rs749768205
|
|
NM_138694.4(PKHD1):c.8785_8786insCTT (p.His2929delinsProTyr)
|
|
|
NM_138694.4(PKHD1):c.8797+1G>A
|
rs2151020151
|
|
NM_138694.4(PKHD1):c.880+1G>A
|
rs1582064292
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
|
NM_138694.4(PKHD1):c.8832del (p.Arg2945fs)
|
rs1057517244
|
|
NM_138694.4(PKHD1):c.8846_8847del (p.Glu2949fs)
|
|
|
NM_138694.4(PKHD1):c.8856del (p.Leu2952_Leu2953insTer)
|
|
|
NM_138694.4(PKHD1):c.8864G>A (p.Arg2955Gln)
|
|
|
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)
|
rs1582469538
|
|
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met)
|
|
|
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)
|
rs770068023
|
|
NM_138694.4(PKHD1):c.8926A>T (p.Lys2976Ter)
|
|
|
NM_138694.4(PKHD1):c.8932del (p.Ser2978fs)
|
|
|
NM_138694.4(PKHD1):c.8948C>A (p.Ser2983Ter)
|
|
|
NM_138694.4(PKHD1):c.8950+1G>A
|
|
|
NM_138694.4(PKHD1):c.8950+1G>T
|
rs1351918391
|
|
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala)
|
rs1057516201
|
|
NM_138694.4(PKHD1):c.8958del (p.Gln2987fs)
|
rs1057517387
|
|
NM_138694.4(PKHD1):c.8963T>A (p.Leu2988His)
|
|
|
NM_138694.4(PKHD1):c.8987dup (p.Gly2997fs)
|
|
|
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)
|
rs1582053820
|
|
NM_138694.4(PKHD1):c.9003C>A (p.Tyr3001Ter)
|
|
|
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)
|
rs775628123
|
|
NM_138694.4(PKHD1):c.9005C>A (p.Ser3002Ter)
|
|
|
NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer)
|
rs1554218926
|
|
NM_138694.4(PKHD1):c.9166C>T (p.Gln3056Ter)
|
|
|
NM_138694.4(PKHD1):c.9169del (p.Ala3057fs)
|
|
|
NM_138694.4(PKHD1):c.9171del (p.Tyr3058fs)
|
|
|
NM_138694.4(PKHD1):c.9187A>T (p.Asn3063Tyr)
|
|
|
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)
|
rs1288017883
|
|
NM_138694.4(PKHD1):c.9230G>A (p.Trp3077Ter)
|
rs1250269841
|
|
NM_138694.4(PKHD1):c.9288_9290del (p.Ala3097del)
|
rs2150985143
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.932C>T (p.Thr311Ile)
|
|
|
NM_138694.4(PKHD1):c.9345del (p.Glu3115fs)
|
|
|
NM_138694.4(PKHD1):c.9353G>A (p.Trp3118Ter)
|
|
|
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)
|
rs1554218666
|
|
NM_138694.4(PKHD1):c.9460G>A (p.Asp3154Asn)
|
rs2150983772
|
|
NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs)
|
rs1057516413
|
|
NM_138694.4(PKHD1):c.9473T>C (p.Met3158Thr)
|
|
|
NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs)
|
rs1554218519
|
|
NM_138694.4(PKHD1):c.9532G>T (p.Gly3178Cys)
|
|
|
NM_138694.4(PKHD1):c.9540_9543delinsTTT (p.Leu3180fs)
|
|
|
NM_138694.4(PKHD1):c.954del (p.Arg319fs)
|
rs1809305398
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_138694.4(PKHD1):c.9584_9585del (p.Lys3195fs)
|
|
|
NM_138694.4(PKHD1):c.9600del (p.Arg3201fs)
|
|
|
NM_138694.4(PKHD1):c.9627C>G (p.Ser3209Arg)
|
|
|
NM_138694.4(PKHD1):c.9653_9654del (p.Lys3218fs)
|
|
|
NM_138694.4(PKHD1):c.9656_9657del (p.Val3219fs)
|
|
|
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)
|
rs1057516445
|
|
NM_138694.4(PKHD1):c.9715G>A (p.Gly3239Ser)
|
|
|
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
|
rs146649803
|
|
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)
|
rs146649803
|
|
NM_138694.4(PKHD1):c.9743del (p.Phe3248fs)
|
rs751754608
|
|
NM_138694.4(PKHD1):c.977-2A>G
|
|
|
NM_138694.4(PKHD1):c.9829+1G>A
|
rs1273202231
|
|
NM_138694.4(PKHD1):c.9829+1dup
|
|
|
NM_138694.4(PKHD1):c.9830-18_9842del
|
|
|
NM_138694.4(PKHD1):c.9830-1G>A
|
|
|
NM_138694.4(PKHD1):c.9830-2A>C
|
rs890681861
|
|
NM_138694.4(PKHD1):c.9830-2A>G
|
rs890681861
|
|
NM_138694.4(PKHD1):c.9834del (p.Thr3279fs)
|
|
|
NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter)
|
rs1057517357
|
|
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn)
|
rs1060501356
|
|
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)
|
rs757099749
|
|
NM_138694.4(PKHD1):c.9913dup (p.Ile3305fs)
|
rs1785246943
|
|
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)
|
|
|
NM_138694.4(PKHD1):c.9969del (p.Asn3323fs)
|
|
|
NM_138694.4(PKHD1):c.9974del (p.Phe3325fs)
|
|
|
NM_138694.4(PKHD1):c.9998+1G>A
|
|
|
NM_138694.4(PKHD1):c.9998+1G>T
|
rs1554217691
|
|
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)
|
rs1057524563
|
|
NM_138694.4(PKHD1):c.9999-1G>A
|
rs2150963039
|
|
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)
|
rs375189195
|
|
NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)
|
|
|
NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr)
|
rs1952754017
|
|
NM_139343.3(BIN1):c.1002+2T>C
|
rs1553458019
|
|
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter)
|
rs121909275
|
|
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys)
|
rs1249621033
|
|
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)
|
rs267606681
|
|
NM_144508.5(KNL1):c.197_197+4del
|
|
|
NM_144508.5(KNL1):c.2044_2047del (p.Lys681_Gln682insTer)
|
rs2141721054
|
|
NM_144508.5(KNL1):c.4745_4746delinsC (p.Leu1582fs)
|
rs1555420891
|
|
NM_144508.5(KNL1):c.6349G>T (p.Asp2117Tyr)
|
rs758157294
|
|
NM_144508.5(KNL1):c.694del (p.Asp232fs)
|
rs797045430
|
|
NM_144596.4(TTC8):c.114+2T>C
|
rs1273244823
|
|
NM_144596.4(TTC8):c.1387del (p.His463fs)
|
rs2141044380
|
|
NM_144596.4(TTC8):c.265+1_265+2del
|
rs1595939517
|
|
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)
|
rs376035653
|
|
NM_144596.4(TTC8):c.579+5G>A
|
rs2140977987
|
|
NM_144596.4(TTC8):c.69del (p.Cys23fs)
|
rs2094690718
|
|
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr)
|
rs1595959305
|
|
NM_144596.4(TTC8):c.710+1G>A
|
rs2140999630
|
|
NM_144596.4(TTC8):c.799-1G>T
|
|
|
NM_144596.4(TTC8):c.799-2A>G
|
rs771218088
|
|
NM_144596.4(TTC8):c.910-1G>A
|
rs2141033061
|
|
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu)
|
rs727504599
|
|
NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs)
|
rs2141700836
|
|
NM_144672.4(OTOA):c.1633_1634del (p.Leu545fs)
|
|
|
NM_144672.4(OTOA):c.1881-2A>G
|
rs2141716542
|
|
NM_144672.4(OTOA):c.1912C>T (p.Gln638Ter)
|
rs1898923522
|
|
NM_144672.4(OTOA):c.2295del (p.Thr766fs)
|
rs774366025
|
|
NM_144672.4(OTOA):c.2301+1G>T
|
rs1567396832
|
|
NM_144672.4(OTOA):c.2352del (p.Thr785fs)
|
|
|
NM_144672.4(OTOA):c.2991A>C (p.Glu997Asp)
|
|
|
NM_144672.4(OTOA):c.562_569dup (p.Phe191fs)
|
|
|
NM_144672.4(OTOA):c.828del (p.Ser277fs)
|
rs751447996
|
|
NM_144672.4(OTOA):c.875A>G (p.Lys292Arg)
|
|
|
NM_144772.3(NAXE):c.611T>C (p.Leu204Pro)
|
rs2102491191
|
|
NM_144772.3(NAXE):c.668G>A (p.Trp223Ter)
|
rs1205686109
|
|
NM_144992.5(VWA3B):c.1191T>G (p.Tyr397Ter)
|
rs546662496
|
|
NM_145178.4(ATOH7):c.154C>G (p.Arg52Gly)
|
|
|
NM_145200.5(CABP4):c.626G>T (p.Arg209Leu)
|
rs552701854
|
|
NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn)
|
rs879255629
|
|
NM_147127.5(EVC2):c.1005+1G>A
|
|
|
NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter)
|
|
|
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs)
|
rs1553855127
|
|
NM_147127.5(EVC2):c.1145+2del
|
|
|
NM_147127.5(EVC2):c.1146-2A>T
|
|
|
NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs)
|
rs1553840713
|
|
NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter)
|
|
|
NM_147127.5(EVC2):c.1261_1262insTATACACATCTGTGATC (p.Ser421fs)
|
|
|
NM_147127.5(EVC2):c.1292_1296del (p.Val431fs)
|
|
|
NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter)
|
|
|
NM_147127.5(EVC2):c.1313del (p.Leu438fs)
|
|
|
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)
|
rs1477102573
|
|
NM_147127.5(EVC2):c.142_151del (p.Asp49fs)
|
rs1221185345
|
|
NM_147127.5(EVC2):c.1463del (p.Gly488fs)
|
|
|
NM_147127.5(EVC2):c.1470+1G>C
|
rs1577194652
|
|
NM_147127.5(EVC2):c.1470+2T>C
|
|
|
NM_147127.5(EVC2):c.1471-1G>C
|
rs1553837446
|
|
NM_147127.5(EVC2):c.1471-2168_1835del
|
|
|
NM_147127.5(EVC2):c.1511del (p.Gly504fs)
|
|
|
NM_147127.5(EVC2):c.1551_1552insTTTCT (p.Gln518fs)
|
|
|
NM_147127.5(EVC2):c.1552delinsGAGACAGT (p.Gln518fs)
|
|
|
NM_147127.5(EVC2):c.1680_1681del (p.Lys560fs)
|
|
|
NM_147127.5(EVC2):c.1710+1G>A
|
rs2108851279
|
|
NM_147127.5(EVC2):c.1710+2T>C
|
rs2108851273
|
|
NM_147127.5(EVC2):c.1711-1G>A
|
rs1553836169
|
|
NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs)
|
|
|
NM_147127.5(EVC2):c.1872_1873delinsA (p.Gln625fs)
|
|
|
NM_147127.5(EVC2):c.1887-1G>A
|
rs1490912913
|
|
NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter)
|
|
|
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)
|
rs992326794
|
|
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)
|
rs1367694162
|
|
NM_147127.5(EVC2):c.1997dup (p.Leu667fs)
|
|
|
NM_147127.5(EVC2):c.199_208del (p.Ser67fs)
|
rs1420414097
|
|
NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter)
|
|
|
NM_147127.5(EVC2):c.202_211dup (p.Pro71fs)
|
rs1553855074
|
|
NM_147127.5(EVC2):c.2046+1G>A
|
rs762947212
|
|
NM_147127.5(EVC2):c.2046+1G>C
|
rs762947212
|
|
NM_147127.5(EVC2):c.2046+1G>T
|
rs762947212
|
|
NM_147127.5(EVC2):c.2047-2A>G
|
rs1553833239
|
|
NM_147127.5(EVC2):c.204_210dup (p.Pro71fs)
|
|
|
NM_147127.5(EVC2):c.2053del (p.Glu685fs)
|
|
|
NM_147127.5(EVC2):c.2122_2125delinsAGA (p.His708fs)
|
|
|
NM_147127.5(EVC2):c.2219delinsTTTCT (p.Thr740fs)
|
|
|
NM_147127.5(EVC2):c.222_228+21del
|
rs1484464278
|
|
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)
|
rs1577170055
|
|
NM_147127.5(EVC2):c.2394_2395del (p.Asp799fs)
|
|
|
NM_147127.5(EVC2):c.2501+1G>T
|
|
|
NM_147127.5(EVC2):c.257_260del (p.Val86fs)
|
|
|
NM_147127.5(EVC2):c.2706+1G>A
|
rs2108833043
|
|
NM_147127.5(EVC2):c.2707-1G>A
|
|
|
NM_147127.5(EVC2):c.2707-1G>T
|
rs749251178
|
|
NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter)
|
|
|
NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter)
|
|
|
NM_147127.5(EVC2):c.2829+2T>C
|
|
|
NM_147127.5(EVC2):c.2829+2T>G
|
|
|
NM_147127.5(EVC2):c.2830-1G>A
|
rs1553818428
|
|
NM_147127.5(EVC2):c.2830-1G>T
|
rs1553818428
|
|
NM_147127.5(EVC2):c.2842_2848del (p.Leu948fs)
|
|
|
NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter)
|
|
|
NM_147127.5(EVC2):c.2855_2858delinsCACTCA (p.Arg952fs)
|
|
|
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
|
|
|
NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter)
|
|
|
NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter)
|
|
|
NM_147127.5(EVC2):c.3057+1G>A
|
rs1307502841
|
|
NM_147127.5(EVC2):c.3058-1G>C
|
|
|
NM_147127.5(EVC2):c.3058-1G>T
|
|
|
NM_147127.5(EVC2):c.3058-2A>G
|
rs760066386
|
|
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)
|
rs886037764
|
|
NM_147127.5(EVC2):c.3169_3182del (p.Ile1057fs)
|
|
|
NM_147127.5(EVC2):c.316A>T (p.Lys106Ter)
|
|
|
NM_147127.5(EVC2):c.3272+1G>T
|
|
|
NM_147127.5(EVC2):c.3273-2A>C
|
rs2108777040
|
|
NM_147127.5(EVC2):c.3273-2del
|
rs768380281
|
|
NM_147127.5(EVC2):c.3279_3282del (p.Glu1094fs)
|
|
|
NM_147127.5(EVC2):c.3360+1G>A
|
rs1553815019
|
|
NM_147127.5(EVC2):c.3411del (p.Thr1138fs)
|
|
|
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs)
|
rs778793911
|
|
NM_147127.5(EVC2):c.3459_3460del (p.Gln1154fs)
|
|
|
NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter)
|
|
|
NM_147127.5(EVC2):c.3558-2A>G
|
|
|
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter)
|
rs1305301849
|
|
NM_147127.5(EVC2):c.3660-2A>G
|
rs1553811863
|
|
NM_147127.5(EVC2):c.380T>A (p.Leu127Ter)
|
rs2151736638
|
|
NM_147127.5(EVC2):c.437_438del (p.Ile146fs)
|
|
|
NM_147127.5(EVC2):c.450+1G>A
|
rs1447633595
|
|
NM_147127.5(EVC2):c.450+1G>C
|
|
|
NM_147127.5(EVC2):c.450+1del
|
rs1553852469
|
|
NM_147127.5(EVC2):c.450+2T>G
|
|
|
NM_147127.5(EVC2):c.451-1_452del
|
rs1721107398
|
|
NM_147127.5(EVC2):c.451-2A>G
|
rs1553851870
|
|
NM_147127.5(EVC2):c.466del (p.Arg156fs)
|
|
|
NM_147127.5(EVC2):c.50dup (p.Leu18fs)
|
rs1553855151
|
|
NM_147127.5(EVC2):c.520-2A>T
|
|
|
NM_147127.5(EVC2):c.534dup (p.Glu179Ter)
|
rs1553851462
|
|
NM_147127.5(EVC2):c.636_637delinsT (p.Thr213fs)
|
|
|
NM_147127.5(EVC2):c.711_717del (p.Asp238fs)
|
|
|
NM_147127.5(EVC2):c.750_751delinsA (p.Gly251fs)
|
|
|
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter)
|
rs1553850677
|
|
NM_147127.5(EVC2):c.775_781del (p.Leu259fs)
|
|
|
NM_147127.5(EVC2):c.816+2T>A
|
rs1294715119
|
|
NM_147127.5(EVC2):c.816+2T>C
|
rs1294715119
|
|
NM_147127.5(EVC2):c.817-1G>T
|
|
|
NM_147127.5(EVC2):c.817-2A>G
|
rs1553849894
|
|
NM_147127.5(EVC2):c.821_824del (p.Arg274fs)
|
rs1368193719
|
|
NM_147127.5(EVC2):c.870+1G>A
|
rs2151724043
|
|
NM_147127.5(EVC2):c.871-2_894del
|
rs755789146
|
|
NM_147127.5(EVC2):c.916delinsGACGA (p.Phe306fs)
|
|
|
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)
|
rs763363403
|
|
NM_147127.5(EVC2):c.961del (p.Val321fs)
|
|
|
NM_147196.3(TMIE):c.122_125dup (p.Pro43fs)
|
rs876661301
|
|
NM_147196.3(TMIE):c.92A>G (p.Glu31Gly)
|
rs1057517839
|
|
NM_148919.4(PSMB8):c.69_147+42del
|
|
|
NM_152384.3(BBS5):c.142+1G>T
|
rs2105291750
|
|
NM_152384.3(BBS5):c.142+1del
|
|
|
NM_152384.3(BBS5):c.1A>T (p.Met1Leu)
|
|
|
NM_152384.3(BBS5):c.259-1G>A
|
|
|
NM_152384.3(BBS5):c.259-3C>G
|
rs564412855
|
|
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)
|
rs1683515617
|
|
NM_152384.3(BBS5):c.386+1G>T
|
rs1559122277
|
|
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg)
|
rs786205636
|
|
NM_152384.3(BBS5):c.59+5G>T
|
|
|
NM_152384.3(BBS5):c.60-2A>C
|
|
|
NM_152384.3(BBS5):c.681+1G>T
|
|
|
NM_152384.3(BBS5):c.817-1G>A
|
rs1466289570
|
|
NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)
|
|
|
NM_152384.3(BBS5):c.898del (p.Val300fs)
|
rs2105303591
|
|
NM_152384.3(BBS5):c.966dup (p.Ala323fs)
|
rs1553529427
|
|
NM_152443.3(RDH12):c.188-1G>A
|
rs2140142183
|
|
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)
|
rs368489658
|
|
NM_152443.3(RDH12):c.580dup (p.Tyr194fs)
|
rs2140145502
|
|
NM_152443.3(RDH12):c.667G>T (p.Val223Phe)
|
rs370015375
|
|
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)
|
rs1239043055
|
|
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter)
|
rs2038317129
|
|
NM_152522.7(ARL6IP6):c.373C>T (p.Leu125Phe)
|
|
|
NM_152617.4(RNF168):c.559-1_560del
|
|
|
NM_152617.4(RNF168):c.659_662del (p.Arg220fs)
|
rs755314562
|
|
NM_152618.3(BBS12):c.1007del (p.Thr336fs)
|
|
|
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)
|
rs1553941369
|
|
NM_152618.3(BBS12):c.1073_1074del (p.Leu358fs)
|
|
|
NM_152618.3(BBS12):c.1082del (p.Gly361fs)
|
rs1057517193
|
|
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs)
|
rs1800908907
|
|
NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs)
|
rs2150736865
|
|
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)
|
rs1553941391
|
|
NM_152618.3(BBS12):c.1145T>A (p.Leu382Ter)
|
|
|
NM_152618.3(BBS12):c.1151del (p.Ser384fs)
|
rs1553941404
|
|
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter)
|
rs747159816
|
|
NM_152618.3(BBS12):c.1225G>A (p.Val409Met)
|
rs1578491070
|
|
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)
|
rs766741204
|
|
NM_152618.3(BBS12):c.1289dup (p.Arg431fs)
|
|
|
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp)
|
rs756955366
|
|
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs)
|
rs1553941433
|
|
NM_152618.3(BBS12):c.1339G>T (p.Glu447Ter)
|
|
|
NM_152618.3(BBS12):c.1372dup (p.Thr458fs)
|
rs1195341481
|
|
NM_152618.3(BBS12):c.1482_1485del (p.Gly496fs)
|
|
|
NM_152618.3(BBS12):c.1531C>T (p.Gln511Ter)
|
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152618.3(BBS12):c.1537C>T (p.Gln513Ter)
|
|
|
NM_152618.3(BBS12):c.1560G>A (p.Trp520Ter)
|
|
|
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)
|
rs755314355
|
|
NM_152618.3(BBS12):c.1654_1655dup (p.Leu553fs)
|
|
|
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)
|
rs2150737598
|
|
NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)
|
|
|
NM_152618.3(BBS12):c.1795del (p.Leu599fs)
|
rs1553941540
|
|
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)
|
|
|
NM_152618.3(BBS12):c.1886_1887del (p.Ser629fs)
|
|
|
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)
|
rs1560708847
|
|
NM_152618.3(BBS12):c.1910T>A (p.Leu637Ter)
|
|
|
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)
|
rs1553941580
|
|
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer)
|
rs1444062882
|
|
NM_152618.3(BBS12):c.1972C>T (p.Gln658Ter)
|
rs2150737953
|
|
NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)
|
|
|
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter)
|
rs746020725
|
|
NM_152618.3(BBS12):c.250G>A (p.Gly84Arg)
|
rs1578489760
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
NM_152618.3(BBS12):c.270del (p.Val92fs)
|
rs1173504533
|
|
NM_152618.3(BBS12):c.2T>C (p.Met1Thr)
|
rs1553941150
|
|
NM_152618.3(BBS12):c.416_419del (p.Asp139fs)
|
rs1553941255
|
|
NM_152618.3(BBS12):c.424dup (p.Asp142fs)
|
rs1553941258
|
|
NM_152618.3(BBS12):c.494C>G (p.Ser165Ter)
|
|
|
NM_152618.3(BBS12):c.49dup (p.Gln17fs)
|
rs756061536
|
|
NM_152618.3(BBS12):c.568dup (p.Ser190fs)
|
rs1553941279
|
|
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)
|
rs769588983
|
|
NM_152618.3(BBS12):c.694dup (p.Ile232fs)
|
rs2150736431
|
|
NM_152618.3(BBS12):c.719_720del (p.Thr240fs)
|
|
|
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)
|
rs1553941304
|
|
NM_152618.3(BBS12):c.780_781del (p.His260fs)
|
rs865920726
|
|
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)
|
rs974173261
|
|
NM_152618.3(BBS12):c.869_873del (p.Val290fs)
|
rs1283655166
|
|
NM_152618.3(BBS12):c.880T>G (p.Tyr294Asp)
|
|
|
NM_152618.3(BBS12):c.911_912del (p.Cys304fs)
|
rs2150736648
|
|
NM_152618.3(BBS12):c.948_952del (p.Phe316fs)
|
|
|
NM_153002.3(GPR156):c.1863dup (p.His622fs)
|
|
|
NM_153002.3(GPR156):c.600G>A (p.Thr200=)
|
|
|
NM_153240.4(NPHP3):c.[2108A>C];[3373C>T]
|
|
|
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
|
rs1456714047
|
|
NM_153240.5(NPHP3):c.1525-2A>G
|
|
|
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
|
|
|
NM_153240.5(NPHP3):c.1628+2T>A
|
rs1277862520
|
|
NM_153240.5(NPHP3):c.187_194del (p.Gly63fs)
|
rs2108007892
|
|
NM_153240.5(NPHP3):c.1888-7_1893del
|
rs1553773296
|
|
NM_153240.5(NPHP3):c.1985+1G>A
|
rs1553773271
|
|
NM_153240.5(NPHP3):c.2172-2A>C
|
|
|
NM_153240.5(NPHP3):c.2172-2A>G
|
rs547310372
|
|
NM_153240.5(NPHP3):c.3201+2T>G
|
|
|
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del)
|
rs753616848
|
|
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter)
|
rs1576660495
|
|
NM_153240.5(NPHP3):c.3419dup (p.Asn1140fs)
|
rs1939111919
|
|
NM_153240.5(NPHP3):c.3696_3696+3del
|
|
|
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val)
|
rs775281384
|
|
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del)
|
rs119456959
|
|
NM_153240.5(NPHP3):c.52del (p.Asp18fs)
|
rs2108008280
|
|
NM_153240.5(NPHP3):c.634dup (p.Glu212fs)
|
rs747052534
|
|
NM_153676.4(USH1C):c.1000C>T (p.Gln334Ter)
|
|
|
NM_153676.4(USH1C):c.1018C>T (p.Gln340Ter)
|
|
|
NM_153676.4(USH1C):c.1020-2A>C
|
rs147956944
|
|
NM_153676.4(USH1C):c.1039del (p.Gln347fs)
|
|
|
NM_153676.4(USH1C):c.104+2T>C
|
|
|
NM_153676.4(USH1C):c.104+5G>C
|
rs2133927984
|
|
NM_153676.4(USH1C):c.105-2A>G
|
|
|
NM_153676.4(USH1C):c.1086-1G>T
|
|
|
NM_153676.4(USH1C):c.1094_1101dup (p.Glu368fs)
|
|
|
NM_153676.4(USH1C):c.1096del (p.Glu366fs)
|
|
|
NM_153676.4(USH1C):c.110_113del (p.Met37fs)
|
|
|
NM_153676.4(USH1C):c.1121G>A (p.Trp374Ter)
|
|
|
NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter)
|
rs1591999307
|
|
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)
|
rs1554960390
|
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388
|
|
NM_153676.4(USH1C):c.1A>G (p.Met1Val)
|
rs1554965967
|
|
NM_153676.4(USH1C):c.2185-1G>A
|
|
|
NM_153676.4(USH1C):c.2185-2A>G
|
rs1358056232
|
|
NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter)
|
|
|
NM_153676.4(USH1C):c.2280+2T>C
|
rs1554954681
|
|
NM_153676.4(USH1C):c.2281-1G>A
|
rs1554954574
|
|
NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer)
|
rs1591961566
|
|
NM_153676.4(USH1C):c.2359del (p.Arg787fs)
|
|
|
NM_153676.4(USH1C):c.2381-2A>G
|
rs1465352266
|
|
NM_153676.4(USH1C):c.2381-7_2381del
|
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs)
|
|
|
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter)
|
rs371257969
|
|
NM_153676.4(USH1C):c.2420del (p.Gly807fs)
|
|
|
NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs)
|
|
|
NM_153676.4(USH1C):c.249-1G>A
|
|
|
NM_153676.4(USH1C):c.2490+1G>T
|
rs1554953746
|
|
NM_153676.4(USH1C):c.2490+1del
|
rs1366154374
|
|
NM_153676.4(USH1C):c.2490+2T>C
|
rs1554953745
|
|
NM_153676.4(USH1C):c.2520C>A (p.Cys840Ter)
|
|
|
NM_153676.4(USH1C):c.2535T>A (p.Tyr845Ter)
|
|
|
NM_153676.4(USH1C):c.2546+1G>A
|
|
|
NM_153676.4(USH1C):c.2546+1G>T
|
rs1554953350
|
|
NM_153676.4(USH1C):c.301_311del (p.Ser101fs)
|
|
|
NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs)
|
|
|
NM_153676.4(USH1C):c.356_365del (p.Lys119fs)
|
|
|
NM_153676.4(USH1C):c.36+1G>A
|
rs1403777293
|
|
NM_153676.4(USH1C):c.37-1G>C
|
|
|
NM_153676.4(USH1C):c.387+1G>A
|
|
|
NM_153676.4(USH1C):c.388-1G>A
|
rs1364331716
|
|
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys)
|
rs1565058763
|
|
NM_153676.4(USH1C):c.541del (p.Thr181fs)
|
|
|
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)
|
|
|
NM_153676.4(USH1C):c.579+1G>A
|
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
NM_153676.4(USH1C):c.674+1G>A
|
rs775496999
|
|
NM_153676.4(USH1C):c.674+1del
|
rs1554961872
|
|
NM_153676.4(USH1C):c.674+2T>G
|
rs1298596518
|
|
NM_153676.4(USH1C):c.70del (p.Asp24fs)
|
|
|
NM_153676.4(USH1C):c.748_759+5del
|
rs1355262412
|
|
NM_153676.4(USH1C):c.769C>T (p.Gln257Ter)
|
|
|
NM_153676.4(USH1C):c.819+1G>A
|
rs1554961152
|
|
NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)
|
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs)
|
|
|
NM_153676.4(USH1C):c.84_85insC (p.Val29fs)
|
|
|
NM_153676.4(USH1C):c.877-2A>G
|
|
|
NM_153676.4(USH1C):c.891_892del (p.Met298fs)
|
|
|
NM_153676.4(USH1C):c.913_925del (p.Ala305fs)
|
|
|
NM_153676.4(USH1C):c.916G>T (p.Glu306Ter)
|
|
|
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)
|
|
|
NM_153676.4(USH1C):c.917_939dup (p.Gln315fs)
|
rs761465345
|
|
NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs)
|
|
|
NM_153700.2(STRC):c.1469T>C (p.Leu490Pro)
|
|
|
NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs)
|
|
|
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)
|
rs376104748
|
|
NM_153700.2(STRC):c.4564G>T (p.Gly1522Ter)
|
rs763904943
|
|
NM_153700.2(STRC):c.4701+1G>A
|
rs199839039
|
|
NM_153700.2(STRC):c.64+1_3138+1del
|
|
|
NM_153704.6(TMEM67):c.1132-2A>G
|
|
|
NM_153704.6(TMEM67):c.114del (p.Phe39fs)
|
|
|
NM_153704.6(TMEM67):c.1847C>A (p.Ala616Asp)
|
|
|
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
|
|
|
NM_153704.6(TMEM67):c.223+1G>C
|
|
|
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)
|
rs1815059174
|
|
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln)
|
rs886039810
|
|
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)
|
rs868404889
|
|
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg)
|
rs138783896
|
|
NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr)
|
rs1813039419
|
|
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del)
|
rs1445771901
|
|
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)
|
rs779915989
|
|
NM_153717.3(EVC):c.1068_1069del (p.Leu357fs)
|
|
|
NM_153717.3(EVC):c.1081_1083delinsA (p.Gln361fs)
|
|
|
NM_153717.3(EVC):c.1098+1G>A
|
|
|
NM_153717.3(EVC):c.1099-1G>A
|
|
|
NM_153717.3(EVC):c.1099-2A>C
|
|
|
NM_153717.3(EVC):c.1113del (p.Thr372fs)
|
rs2152076090
|
|
NM_153717.3(EVC):c.1128_1132del (p.His377fs)
|
|
|
NM_153717.3(EVC):c.1136_1563+515del
|
|
|
NM_153717.3(EVC):c.1148_1152del (p.Glu383fs)
|
|
|
NM_153717.3(EVC):c.1158_1159insACTGTCTCTTATA (p.Leu387fs)
|
|
|
NM_153717.3(EVC):c.1212_1216del (p.Glu405fs)
|
|
|
NM_153717.3(EVC):c.1284_1287del (p.Phe429fs)
|
|
|
NM_153717.3(EVC):c.1290G>A (p.Trp430Ter)
|
|
|
NM_153717.3(EVC):c.1304_1307dup (p.Phe436fs)
|
|
|
NM_153717.3(EVC):c.134G>A (p.Trp45Ter)
|
rs1553857995
|
|
NM_153717.3(EVC):c.1361_1362delinsT (p.His454fs)
|
|
|
NM_153717.3(EVC):c.1373del (p.Gly458fs)
|
rs760607210
|
|
NM_153717.3(EVC):c.13_14insCTCA (p.Gly5fs)
|
|
|
NM_153717.3(EVC):c.1409del (p.Gln470fs)
|
|
|
NM_153717.3(EVC):c.1465-3_1472del
|
rs1300178432
|
|
NM_153717.3(EVC):c.1473dup (p.Glu492Ter)
|
rs1553876813
|
|
NM_153717.3(EVC):c.1539del (p.Glu514fs)
|
rs759106605
|
|
NM_153717.3(EVC):c.153_174+42del
|
rs1723019796
|
|
NM_153717.3(EVC):c.1572del (p.Phe525fs)
|
|
|
NM_153717.3(EVC):c.1620_1621del (p.Gln541fs)
|
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.1750del (p.Gln584fs)
|
rs1736000365
|
|
NM_153717.3(EVC):c.1765del (p.Gln589fs)
|
|
|
NM_153717.3(EVC):c.1776+2T>C
|
|
|
NM_153717.3(EVC):c.1803del (p.Ser602fs)
|
|
|
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)
|
rs1553889992
|
|
NM_153717.3(EVC):c.1880_1881insGA (p.Glu628fs)
|
|
|
NM_153717.3(EVC):c.1886+1G>C
|
rs753679094
|
|
NM_153717.3(EVC):c.1886+2T>G
|
rs1713228964
|
|
NM_153717.3(EVC):c.1887-2A>T
|
|
|
NM_153717.3(EVC):c.1887-5_1904del
|
rs779275317
|
|
NM_153717.3(EVC):c.1A>G (p.Met1Val)
|
|
|
NM_153717.3(EVC):c.2026G>T (p.Glu676Ter)
|
|
|
NM_153717.3(EVC):c.2041G>T (p.Glu681Ter)
|
|
|
NM_153717.3(EVC):c.2097+1G>A
|
|
|
NM_153717.3(EVC):c.2097+1G>T
|
rs1553891368
|
|
NM_153717.3(EVC):c.2097+2del
|
rs2152340942
|
|
NM_153717.3(EVC):c.2098-1G>C
|
rs773019082
|
|
NM_153717.3(EVC):c.2098-2A>G
|
rs1714398710
|
|
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)
|
rs1553891936
|
|
NM_153717.3(EVC):c.2176dup (p.Leu726fs)
|
rs146475474
|
|
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
|
|
|
NM_153717.3(EVC):c.228_234del (p.Ser77fs)
|
|
|
NM_153717.3(EVC):c.2304+2T>C
|
rs1553892090
|
|
NM_153717.3(EVC):c.2436_2437del (p.Lys813fs)
|
|
|
NM_153717.3(EVC):c.2449+1G>A
|
rs1553893423
|
|
NM_153717.3(EVC):c.2449+2T>C
|
|
|
NM_153717.3(EVC):c.2450-1G>A
|
rs1715585498
|
|
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)
|
rs1553857828
|
|
NM_153717.3(EVC):c.2561+1G>A
|
rs1553894457
|
|
NM_153717.3(EVC):c.2562-3_2584del
|
rs1577663625
|
|
NM_153717.3(EVC):c.2668del (p.Gln890fs)
|
rs1553895755
|
|
NM_153717.3(EVC):c.2677_2688+7del
|
rs2152387946
|
|
NM_153717.3(EVC):c.2688+1G>C
|
rs1553895776
|
|
NM_153717.3(EVC):c.2688+2T>G
|
|
|
NM_153717.3(EVC):c.26_36del (p.Lys9fs)
|
|
|
NM_153717.3(EVC):c.26del (p.Lys9fs)
|
|
|
NM_153717.3(EVC):c.2782+1del
|
rs1169539647
|
|
NM_153717.3(EVC):c.29_30insA (p.Ser10fs)
|
|
|
NM_153717.3(EVC):c.2T>A (p.Met1Lys)
|
rs1553857801
|
|
NM_153717.3(EVC):c.2T>C (p.Met1Thr)
|
|
|
NM_153717.3(EVC):c.300+1G>T
|
|
|
NM_153717.3(EVC):c.301-1G>A
|
rs1363547577
|
|
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193
|
|
NM_153717.3(EVC):c.37_40del (p.Arg13fs)
|
|
|
NM_153717.3(EVC):c.37del (p.Arg13fs)
|
|
|
NM_153717.3(EVC):c.384G>T (p.Arg128=)
|
rs1553865346
|
|
NM_153717.3(EVC):c.385-1G>A
|
|
|
NM_153717.3(EVC):c.393del (p.Asp132fs)
|
rs1437174284
|
|
NM_153717.3(EVC):c.39_40del (p.Leu14fs)
|
|
|
NM_153717.3(EVC):c.3_4insTATAAGAGACA (p.Ala2fs)
|
|
|
NM_153717.3(EVC):c.40_41insACTGTCTCTTA (p.Leu14fs)
|
|
|
NM_153717.3(EVC):c.43_44insGTATAAGAGACAG (p.Leu15fs)
|
|
|
NM_153717.3(EVC):c.48_55del (p.Gly17fs)
|
|
|
NM_153717.3(EVC):c.54_61del (p.Asp19fs)
|
|
|
NM_153717.3(EVC):c.56_174+42del
|
|
|
NM_153717.3(EVC):c.59_60insA (p.Leu21fs)
|
|
|
NM_153717.3(EVC):c.60_61insACTGTCTCTTATA (p.Leu21fs)
|
|
|
NM_153717.3(EVC):c.617+1G>A
|
rs1726841476
|
|
NM_153717.3(EVC):c.617+2T>A
|
|
|
NM_153717.3(EVC):c.636T>A (p.Cys212Ter)
|
|
|
NM_153717.3(EVC):c.64_79del (p.Arg22fs)
|
|
|
NM_153717.3(EVC):c.650_651del (p.His217fs)
|
|
|
NM_153717.3(EVC):c.698dup (p.His233fs)
|
rs1553867117
|
|
NM_153717.3(EVC):c.703-1G>A
|
rs1485152854
|
|
NM_153717.3(EVC):c.703-1G>C
|
rs1485152854
|
|
NM_153717.3(EVC):c.708del (p.Phe236fs)
|
|
|
NM_153717.3(EVC):c.720del (p.Phe240fs)
|
rs1553871764
|
|
NM_153717.3(EVC):c.752dup (p.Lys252fs)
|
rs1553871792
|
|
NM_153717.3(EVC):c.787_788delinsA (p.Ser263fs)
|
|
|
NM_153717.3(EVC):c.801+1G>T
|
|
|
NM_153717.3(EVC):c.801+2T>C
|
|
|
NM_153717.3(EVC):c.801+2T>G
|
rs1553871866
|
|
NM_153717.3(EVC):c.802-1G>C
|
rs150814290
|
|
NM_153717.3(EVC):c.802-2A>G
|
|
|
NM_153717.3(EVC):c.840_846del (p.Ser281fs)
|
|
|
NM_153717.3(EVC):c.857C>A (p.Ser286Ter)
|
|
|
NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs)
|
|
|
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)
|
rs755381180
|
|
NM_153717.3(EVC):c.910del (p.Arg304fs)
|
|
|
NM_153717.3(EVC):c.939+1G>A
|
rs1553873138
|
|
NM_153717.3(EVC):c.939+1G>C
|
rs1553873138
|
|
NM_153717.3(EVC):c.940-150T>G
|
rs576076928
|
|
NM_153717.3(EVC):c.985_986insATCTT (p.Val329fs)
|
|
|
NM_153717.3(EVC):c.999_1000insAACATTC (p.Cys334fs)
|
|
|
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)
|
|
|
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp)
|
rs1553259614
|
|
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter)
|
rs1784370895
|
|
NM_153816.6(SNX14):c.1725del (p.Phe575fs)
|
rs1311909367
|
|
NM_153816.6(SNX14):c.2746-2A>G
|
|
|
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter)
|
rs1562374476
|
|
NM_153816.6(SNX14):c.44_45del (p.Arg15fs)
|
|
|
NM_153816.6(SNX14):c.462-589A>G
|
|
|
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys)
|
rs1281896947
|
|
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)
|
rs57629361
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)
|
rs2102898301
|
|
NM_170707.4(LMNA):c.164A>G (p.Glu55Gly)
|
rs2102817930
|
|
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)
|
rs2102817952
|
|
NM_170707.4(LMNA):c.331G>A (p.Glu111Lys)
|
|
|
NM_170707.4(LMNA):c.784G>A (p.Glu262Lys)
|
rs397517909
|
|
NM_170707.4(LMNA):c.822del (p.Arg275fs)
|
rs2102883169
|
|
NM_170707.4(LMNA):c.936+2T>C
|
rs797045011
|
|
NM_170784.3(MKKS):c.1235G>T (p.Cys412Phe)
|
rs1396840386
|
|
NM_170784.3(MKKS):c.1353del (p.Phe450_Cys451insTer)
|
|
|
NM_170784.3(MKKS):c.1362_1369dup (p.Val457fs)
|
rs2122220042
|
|
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
|
|
|
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
|
|
|
NM_170784.3(MKKS):c.1486C>T (p.Gln496Ter)
|
|
|
NM_170784.3(MKKS):c.1530G>A (p.Trp510Ter)
|
|
|
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter)
|
rs1334961999
|
|
NM_170784.3(MKKS):c.182C>G (p.Ser61Ter)
|
|
|
NM_170784.3(MKKS):c.187_188dup (p.Leu64fs)
|
|
|
NM_170784.3(MKKS):c.221T>G (p.Leu74Ter)
|
|
|
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg)
|
rs1297985227
|
|
NM_170784.3(MKKS):c.383_391delinsG (p.Ile128fs)
|
|
|
NM_170784.3(MKKS):c.40_41del (p.Lys13_Ser14insTer)
|
|
|
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)
|
rs2122235362
|
|
NM_170784.3(MKKS):c.432del (p.Phe144fs)
|
|
|
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
|
|
|
NM_170784.3(MKKS):c.515_516del (p.Glu172fs)
|
rs2064904675
|
|
NM_170784.3(MKKS):c.611del (p.Pro203_Leu204insTer)
|
|
|
NM_170784.3(MKKS):c.619C>T (p.Gln207Ter)
|
|
|
NM_170784.3(MKKS):c.61A>T (p.Arg21Ter)
|
|
|
NM_170784.3(MKKS):c.63_64del (p.Arg21fs)
|
rs754066841
|
|
NM_170784.3(MKKS):c.668C>A (p.Ser223Ter)
|
|
|
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
|
|
|
NM_170784.3(MKKS):c.845dup (p.Leu283fs)
|
rs1555801973
|
|
NM_170784.3(MKKS):c.871G>T (p.Val291Phe)
|
|
|
NM_170784.3(MKKS):c.886del (p.Val296fs)
|
|
|
NM_170784.3(MKKS):c.940_941del (p.Asp314fs)
|
rs2064897670
|
|
NM_170784.3(MKKS):c.942_945del (p.Asp314fs)
|
|
|
NM_170784.3(MKKS):c.950_960del (p.Gly317fs)
|
|
|
NM_170784.3(MKKS):c.966del (p.Glu322fs)
|
|
|
NM_173477.5(USH1G):c.1004dup (p.Leu336fs)
|
rs1359109336
|
|
NM_173477.5(USH1G):c.1311del (p.Lys438fs)
|
rs886043626
|
|
NM_173477.5(USH1G):c.1382+2_1382+3del
|
|
|
NM_173477.5(USH1G):c.164+5G>A
|
rs1337840598
|
|
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter)
|
rs928656346
|
|
NM_173477.5(USH1G):c.502G>T (p.Glu168Ter)
|
rs1226851798
|
|
NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)
|
|
|
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)
|
rs544952984
|
|
NM_173477.5(USH1G):c.812del (p.Pro271fs)
|
rs1567939793
|
|
NM_173543.3(DZIP1L):c.727C>T (p.Gln243Ter)
|
rs747165958
|
|
NM_173551.5(ANKS6):c.2142G>T (p.Lys714Asn)
|
|
|
NM_173551.5(ANKS6):c.2420dup (p.Thr808fs)
|
rs2131933650
|
|
NM_173551.5(ANKS6):c.934G>C (p.Ala312Pro)
|
rs1834431706
|
|
NM_173551.5(ANKS6):c.938A>C (p.Asp313Ala)
|
rs1834431047
|
|
NM_174878.3(CLRN1):c.128G>T (p.Gly43Val)
|
rs933370216
|
|
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter)
|
rs1057517224
|
|
NM_174878.3(CLRN1):c.151_154del (p.Gly51fs)
|
rs1553776061
|
|
NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter)
|
rs1553776052
|
|
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser)
|
rs1715589813
|
|
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr)
|
rs1553776135
|
|
NM_174878.3(CLRN1):c.301_305del (p.Val101fs)
|
rs397517932
|
|
NM_174878.3(CLRN1):c.372del (p.Phe124fs)
|
rs1553772595
|
|
NM_174878.3(CLRN1):c.3G>A (p.Met1Ile)
|
rs1553776132
|
|
NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter)
|
rs1553776112
|
|
NM_174878.3(CLRN1):c.433+2dup
|
rs1057516687
|
|
NM_174878.3(CLRN1):c.434G>T (p.Gly145Val)
|
rs765085056
|
|
NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr)
|
rs201625237
|
|
NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp)
|
rs775098953
|
|
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)
|
rs746523071
|
|
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)
|
rs376155416
|
|
NM_174878.3(CLRN1):c.697T>C (p.Ter233Arg)
|
rs2107927490
|
|
NM_174916.3(UBR1):c.1539+2T>G
|
rs2033511910
|
|
NM_174916.3(UBR1):c.1912-6T>G
|
rs1131691523
|
|
NM_174916.3(UBR1):c.4745del (p.Asn1582fs)
|
|
|
NM_174916.3(UBR1):c.529-13G>A
|
rs1265375100
|
|
NM_176824.3(BBS7):c.102+1G>T
|
|
|
NM_176824.3(BBS7):c.103-268_112del
|
|
|
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)
|
rs773139166
|
|
NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)
|
|
|
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs)
|
rs577434138
|
|
NM_176824.3(BBS7):c.115_116del (p.Asp39fs)
|
|
|
NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)
|
|
|
NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)
|
|
|
NM_176824.3(BBS7):c.1305+1G>A
|
|
|
NM_176824.3(BBS7):c.1305+2T>A
|
|
|
NM_176824.3(BBS7):c.1306-1_1308del
|
|
|
NM_176824.3(BBS7):c.1371+1G>A
|
rs1578537379
|
|
NM_176824.3(BBS7):c.1489del (p.Thr497fs)
|
|
|
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
|
|
|
NM_176824.3(BBS7):c.1512-1G>A
|
rs2149054421
|
|
NM_176824.3(BBS7):c.1551del (p.Phe517fs)
|
|
|
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)
|
rs587777836
|
|
NM_176824.3(BBS7):c.166-2A>G
|
|
|
NM_176824.3(BBS7):c.1677-2A>G
|
|
|
NM_176824.3(BBS7):c.1677-490_1804del
|
rs1578522416
|
|
NM_176824.3(BBS7):c.1685_1686del (p.Glu562fs)
|
|
|
NM_176824.3(BBS7):c.1685del (p.Glu562fs)
|
|
|
NM_176824.3(BBS7):c.1786+1G>T
|
rs1560638613
|
|
NM_176824.3(BBS7):c.1786+2T>C
|
|
|
NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)
|
|
|
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
|
|
|
NM_176824.3(BBS7):c.1891-2A>C
|
rs1057519027
|
|
NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)
|
|
|
NM_176824.3(BBS7):c.293_294del (p.Lys98fs)
|
|
|
NM_176824.3(BBS7):c.328del (p.Ser110fs)
|
|
|
NM_176824.3(BBS7):c.341+2T>C
|
|
|
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)
|
rs863224530
|
|
NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)
|
|
|
NM_176824.3(BBS7):c.517dup (p.Arg173fs)
|
|
|
NM_176824.3(BBS7):c.526C>T (p.Gln176Ter)
|
rs2149084783
|
|
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
|
|
|
NM_176824.3(BBS7):c.649dup (p.Ala217fs)
|
rs886044668
|
|
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)
|
rs1727380420
|
|
NM_176824.3(BBS7):c.718+1G>C
|
|
|
NM_176824.3(BBS7):c.719-2A>G
|
|
|
NM_176824.3(BBS7):c.725dup (p.Leu242fs)
|
|
|
NM_176824.3(BBS7):c.72del (p.Pro25fs)
|
|
|
NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)
|
|
|
NM_176824.3(BBS7):c.849+1G>A
|
|
|
NM_176824.3(BBS7):c.87_88del (p.His29fs)
|
rs1578577361
|
|
NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)
|
|
|
NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)
|
|
|
NM_177398.4(LMX1A):c.331del (p.Gln111fs)
|
rs2102637875
|
|
NM_177398.4(LMX1A):c.937C>T (p.Arg313Ter)
|
|
|
NM_177400.3(NKX6-2):c.196del (p.Arg66fs)
|
rs1554961118
|
|
NM_177400.3(NKX6-2):c.234del (p.Leu79fs)
|
rs765650727
|
|
NM_177400.3(NKX6-2):c.287_288dup (p.Ala97fs)
|
|
|
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)
|
rs1131692048
|
|
NM_177400.3(NKX6-2):c.592A>G (p.Asn198Asp)
|
rs2134706153
|
|
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)
|
rs1008088032
|
|
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter)
|
rs1565019928
|
|
NM_177965.4(CFAP418):c.177del (p.Glu60fs)
|
rs1811931460
|
|
NM_177965.4(CFAP418):c.240del (p.Ser81fs)
|
rs1587357327
|
|
NM_178170.3(NEK8):c.1359_1360del (p.His454fs)
|
rs1282492342
|
|
NM_178170.3(NEK8):c.1418-2A>C
|
|
|
NM_178170.3(NEK8):c.889+2del
|
rs1555564214
|
|
NM_178172.6(GPIHBP1):c.230G>A (p.Cys77Tyr)
|
rs780340378
|
|
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg)
|
rs752728823
|
|
NM_178172.6(GPIHBP1):c.397del (p.Ser133fs)
|
|
|
NM_178172.6(GPIHBP1):c.422G>A (p.Trp141Ter)
|
rs1284611659
|
|
NM_178172.6(GPIHBP1):c.433C>T (p.Arg145Ter)
|
rs759883512
|
|
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
|
rs145844329
|
|
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs)
|
rs773616244
|
|
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)
|
rs764339075
|
|
NM_181741.4(ORC4):c.956A>G (p.His319Arg)
|
rs2105259429
|
|
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val)
|
rs1060499810
|
|
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer)
|
rs779841884
|
|
NM_182920.2(ADAMTS9):c.4575_4576del (p.Gln1525fs)
|
rs2106648140
|
|
NM_182961.4(SYNE1):c.10145+1G>A
|
rs1563391747
|
|
NM_182961.4(SYNE1):c.10608+1G>C
|
rs1590998146
|
|
NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)
|
|
|
NM_182961.4(SYNE1):c.11894_11895del (p.His3965fs)
|
|
|
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs)
|
rs2096651533
|
|
NM_182961.4(SYNE1):c.12079-2A>T
|
rs2154019221
|
|
NM_182961.4(SYNE1):c.12351+2T>C
|
rs2154000325
|
|
NM_182961.4(SYNE1):c.12605del (p.Lys4202fs)
|
rs2096322248
|
|
NM_182961.4(SYNE1):c.13325dup (p.Gln4443fs)
|
rs1064794555
|
|
NM_182961.4(SYNE1):c.15837_15917+69del
|
rs2153937126
|
|
NM_182961.4(SYNE1):c.16237-2A>G
|
rs2153903647
|
|
NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16849C>T (p.Arg5617Ter)
|
rs758379604
|
|
NM_182961.4(SYNE1):c.16896+1G>T
|
|
|
NM_182961.4(SYNE1):c.18157C>T (p.Arg6053Ter)
|
|
|
NM_182961.4(SYNE1):c.18208-1G>A
|
rs2153725036
|
|
NM_182961.4(SYNE1):c.18866C>A (p.Ser6289Ter)
|
|
|
NM_182961.4(SYNE1):c.19260+1G>C
|
|
|
NM_182961.4(SYNE1):c.19260+1G>T
|
|
|
NM_182961.4(SYNE1):c.19260+2T>C
|
rs1588855714
|
|
NM_182961.4(SYNE1):c.1933-2A>G
|
rs1554753528
|
|
NM_182961.4(SYNE1):c.19450C>T (p.Gln6484Ter)
|
rs2090447154
|
|
NM_182961.4(SYNE1):c.19839del (p.Ile6615fs)
|
|
|
NM_182961.4(SYNE1):c.20527del (p.Leu6843fs)
|
rs2083582255
|
|
NM_182961.4(SYNE1):c.22590-1G>A
|
rs2153409815
|
|
NM_182961.4(SYNE1):c.22824+2T>A
|
|
|
NM_182961.4(SYNE1):c.23790+1G>A
|
rs2153025020
|
|
NM_182961.4(SYNE1):c.2394+1G>A
|
|
|
NM_182961.4(SYNE1):c.2568+1G>A
|
rs2154261629
|
|
NM_182961.4(SYNE1):c.3396-10_3396delinsC
|
rs863224929
|
|
NM_182961.4(SYNE1):c.3595G>T (p.Glu1199Ter)
|
rs2098603169
|
|
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs)
|
rs797045109
|
|
NM_182961.4(SYNE1):c.4310+1G>A
|
|
|
NM_182961.4(SYNE1):c.434T>A (p.Leu145His)
|
rs755531859
|
|
NM_182961.4(SYNE1):c.5267G>A (p.Arg1756Lys)
|
|
|
NM_182961.4(SYNE1):c.67+2T>A
|
rs762743107
|
|
NM_182961.4(SYNE1):c.888+2T>A
|
rs754518742
|
|
NM_182961.4(SYNE1):c.888+2T>C
|
|
|
NM_183065.4(TMEM107):c.*609G>A
|
rs200531412
|
|
NM_183065.4(TMEM107):c.*696A>G
|
rs779456932
|
|
NM_183065.4(TMEM107):c.*745C>G
|
rs746503581
|
|
NM_194248.2(OTOF):c.[3928_3930dupAAG];[5098G>C]
|
|
|
NM_194248.3(OTOF):c.1172del (p.Lys391fs)
|
rs483353050
|
|
NM_194248.3(OTOF):c.1432T>C (p.Trp478Arg)
|
|
|
NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro)
|
rs1558490542
|
|
NM_194248.3(OTOF):c.1804-2A>G
|
rs2148056311
|
|
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp)
|
rs1558488902
|
|
NM_194248.3(OTOF):c.1912+5G>C
|
rs2148056188
|
|
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)
|
rs80356590
|
|
NM_194248.3(OTOF):c.2214+5G>C
|
|
|
NM_194248.3(OTOF):c.2215-1G>C
|
|
|
NM_194248.3(OTOF):c.2610_2615dup (p.Leu870_Leu871dup)
|
rs2148050495
|
|
NM_194248.3(OTOF):c.2656del (p.Val886fs)
|
|
|
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del)
|
rs1423777622
|
|
NM_194248.3(OTOF):c.3179_3183dup (p.Glu1062fs)
|
rs773708510
|
|
NM_194248.3(OTOF):c.3376dup (p.Ile1126fs)
|
rs1558480402
|
|
NM_194248.3(OTOF):c.3409-2A>C
|
rs201613240
|
|
NM_194248.3(OTOF):c.3674C>G (p.Ser1225Cys)
|
|
|
NM_194248.3(OTOF):c.4490_4491del (p.Tyr1497fs)
|
rs1558472243
|
|
NM_194248.3(OTOF):c.4493T>A (p.Val1498Glu)
|
|
|
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
|
|
|
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter)
|
rs143939430
|
|
NM_194248.3(OTOF):c.4903A>T (p.Arg1635Ter)
|
|
|
NM_194248.3(OTOF):c.5104-1G>T
|
rs2148023761
|
|
NM_194248.3(OTOF):c.5108_5114delinsTCTTCCTGGG (p.Arg1703_Glu1705delinsLeuPheLeuGly)
|
rs2148023717
|
|
NM_194248.3(OTOF):c.5169_5170del (p.Ile1724fs)
|
|
|
NM_194248.3(OTOF):c.5179del (p.Arg1727fs)
|
rs1664580718
|
|
NM_194248.3(OTOF):c.5360G>A (p.Gly1787Asp)
|
rs2148020419
|
|
NM_194248.3(OTOF):c.5534-2A>G
|
rs1664440809
|
|
NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp)
|
rs2148018483
|
|
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val)
|
rs1558464965
|
|
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)
|
rs397515609
|
|
NM_194248.3(OTOF):c.669del (p.Ala224fs)
|
rs2148078546
|
|
NM_194248.3(OTOF):c.764A>C (p.Gln255Pro)
|
|
|
NM_194248.3(OTOF):c.897+1G>T
|
rs483353049
|
|
NM_194292.3(SASS6):c.1057-6_1057-2del
|
|
|
NM_194292.3(SASS6):c.170del (p.Leu57fs)
|
rs763290832
|
|
NM_194292.3(SASS6):c.497C>A (p.Ser166Ter)
|
|
|
NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)
|
|
|
NM_198428.2:c.2115+21712_2521+234del
|
|
|
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
|
|
|
NM_198428.3(BBS9):c.118del (p.Lys39_Ile40insTer)
|
|
|
NM_198428.3(BBS9):c.1193C>G (p.Ser398Ter)
|
|
|
NM_198428.3(BBS9):c.1275+1G>A
|
|
|
NM_198428.3(BBS9):c.1277_1280del
|
rs2128646927
|
|
NM_198428.3(BBS9):c.1329+1738C>T
|
|
|
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter)
|
rs863224534
|
|
NM_198428.3(BBS9):c.1432+2T>G
|
|
|
NM_198428.3(BBS9):c.1433-2A>G
|
|
|
NM_198428.3(BBS9):c.1468del (p.Tyr490fs)
|
rs1454474832
|
|
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter)
|
rs2128667543
|
|
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter)
|
rs1401715737
|
|
NM_198428.3(BBS9):c.1552+2T>A
|
rs1563049863
|
|
NM_198428.3(BBS9):c.1553-1G>A
|
|
|
NM_198428.3(BBS9):c.1694-2A>G
|
|
|
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)
|
rs746797123
|
|
NM_198428.3(BBS9):c.1760_1764del (p.Arg587fs)
|
|
|
NM_198428.3(BBS9):c.1812del (p.Glu604fs)
|
rs1229015450
|
|
NM_198428.3(BBS9):c.1869T>G (p.Tyr623Ter)
|
|
|
NM_198428.3(BBS9):c.1927C>T (p.Gln643Ter)
|
|
|
NM_198428.3(BBS9):c.1960G>T (p.Glu654Ter)
|
|
|
NM_198428.3(BBS9):c.1963-1G>T
|
|
|
NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)
|
|
|
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs)
|
rs1266192229
|
|
NM_198428.3(BBS9):c.2113C>T (p.Gln705Ter)
|
|
|
NM_198428.3(BBS9):c.2115+1G>A
|
rs886039801
|
|
NM_198428.3(BBS9):c.2116-2A>T
|
|
|
NM_198428.3(BBS9):c.2299-2A>C
|
|
|
NM_198428.3(BBS9):c.2412_2415dup (p.Ser806fs)
|
|
|
NM_198428.3(BBS9):c.2521+1G>T
|
|
|
NM_198428.3(BBS9):c.292_328+3delinsAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
NM_198428.3(BBS9):c.360del (p.Gln120fs)
|
|
|
NM_198428.3(BBS9):c.434del (p.Gly145fs)
|
|
|
NM_198428.3(BBS9):c.496C>T (p.Gln166Ter)
|
|
|
NM_198428.3(BBS9):c.702+1G>T
|
|
|
NM_198428.3(BBS9):c.703-1G>C
|
|
|
NM_198428.3(BBS9):c.703-2A>G
|
|
|
NM_198428.3(BBS9):c.785T>C (p.Val262Ala)
|
rs886039875
|
|
NM_198428.3(BBS9):c.793G>T (p.Glu265Ter)
|
|
|
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
|
|
|
NM_198428.3(BBS9):c.998_999insTT (p.Val333_Arg334insTer)
|
|
|
NM_198999.3(SLC26A5):c.2146del (p.Arg716fs)
|
|
|
NM_199280.4(TOGARAM2):c.1543C>T (p.Gln515Ter)
|
|
|
NM_199292.2(TH):c.-70G>A
|
rs1372180906
|
|
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)
|
rs369775002
|
|
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)
|
rs1571524102
|
|
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)
|
rs1266363944
|
|
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser)
|
rs1571525145
|
|
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)
|
rs62636266
|
|
NM_201253.3(CRB1):c.2220dup (p.Met741fs)
|
rs1553261468
|
|
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)
|
rs1085307972
|
|
NM_201253.3(CRB1):c.2843-1G>T
|
rs878853368
|
|
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
|
rs62635649
|
|
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)
|
rs1571848744
|
|
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe)
|
rs1571848855
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201253.3(CRB1):c.71-2A>G
|
rs1383691293
|
|
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter)
|
rs2132991341
|
|
NM_201378.4(PLEC):c.70+2T>C
|
rs2132991287
|
|
NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter)
|
rs1060499581
|
|
NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter)
|
rs1554675388
|
|
NM_201384.3(PLEC):c.1738-2A>C
|
|
|
NM_201384.3(PLEC):c.1973_1977+2del
|
|
|
NM_201384.3(PLEC):c.2178+2T>G
|
|
|
NM_201384.3(PLEC):c.2457+1G>A
|
|
|
NM_201384.3(PLEC):c.3261-1G>A
|
rs111730406
|
|
NM_201384.3(PLEC):c.7318C>T (p.Gln2440Ter)
|
rs2131266696
|
|
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter)
|
rs1554686620
|
|
NM_201384.3(PLEC):c.826-1G>A
|
|
|
NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter)
|
rs1554683108
|
|
NM_203486.3(DLL3):c.1272dup (p.Asp425fs)
|
|
|
NM_203486.3(DLL3):c.1312T>A (p.Cys438Ser)
|
|
|
NM_203486.3(DLL3):c.366_378del (p.Ile123fs)
|
rs2079604821
|
|
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter)
|
rs1447189148
|
|
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
|
|
|
NM_206933.2(USH2A):c.1644+10004_1972-12164del
|
|
|
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)
|
rs774573692
|
|
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
|
|
|
NM_206933.2:c.6326-3582_6658-1028del
|
|
|
NM_206933.3(USH2A):c.12295-?_14133+?del
|
|
|
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter)
|
rs1403618793
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.1014_1015insTATT (p.Ala339fs)
|
|
|
NM_206933.4(USH2A):c.10179del (p.Met3393fs)
|
rs1553262411
|
|
NM_206933.4(USH2A):c.10183-1375_10387+1389del
|
|
|
NM_206933.4(USH2A):c.10317_10318delinsT (p.Ile3440fs)
|
rs1553261898
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter)
|
|
|
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter)
|
rs944675223
|
|
NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter)
|
|
|
NM_206933.4(USH2A):c.10585+1G>A
|
rs2102763351
|
|
NM_206933.4(USH2A):c.10596_10597insAT (p.Tyr3533fs)
|
rs1553261387
|
|
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)
|
rs1553261372
|
|
NM_206933.4(USH2A):c.10724G>T (p.Cys3575Phe)
|
|
|
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)
|
rs111033418
|
|
NM_206933.4(USH2A):c.10842_10845del (p.Glu3614fs)
|
rs1553261118
|
|
NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter)
|
|
|
NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter)
|
|
|
NM_206933.4(USH2A):c.11100_11104del (p.Tyr3701fs)
|
rs1553259179
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.11231+1G>A
|
rs111033382
|
|
NM_206933.4(USH2A):c.11231+1G>T
|
rs111033382
|
|
NM_206933.4(USH2A):c.11290dup (p.Ile3764fs)
|
rs1553259060
|
|
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)
|
rs749726310
|
|
NM_206933.4(USH2A):c.11389+1del
|
rs1414935620
|
|
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs)
|
rs1553257707
|
|
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs)
|
rs1553257705
|
|
NM_206933.4(USH2A):c.11549del
|
rs1660304704
|
|
NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter)
|
|
|
NM_206933.4(USH2A):c.11694del (p.Asn3899fs)
|
rs1553257502
|
|
NM_206933.4(USH2A):c.11703del (p.Phe3901fs)
|
rs1553257497
|
|
NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs)
|
|
|
NM_206933.4(USH2A):c.11712-2A>C
|
rs753505333
|
|
NM_206933.4(USH2A):c.11712-2A>G
|
rs753505333
|
|
NM_206933.4(USH2A):c.11734dup (p.Glu3912fs)
|
rs1553256587
|
|
NM_206933.4(USH2A):c.11815dup (p.Glu3939fs)
|
rs1553256576
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.12067-1G>C
|
rs397517977
|
|
NM_206933.4(USH2A):c.12079C>T (p.Gln4027Ter)
|
rs527236138
|
|
NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs)
|
|
|
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)
|
rs988693758
|
|
NM_206933.4(USH2A):c.12294+1G>C
|
rs111033526
|
|
NM_206933.4(USH2A):c.12309del (p.Phe4103fs)
|
rs1553252528
|
|
NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter)
|
|
|
NM_206933.4(USH2A):c.12602del (p.Gly4201fs)
|
rs1553252499
|
|
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)
|
rs764917754
|
|
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)
|
rs577938494
|
|
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His)
|
rs1571949388
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs)
|
rs1553252469
|
|
NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter)
|
|
|
NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter)
|
|
|
NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter)
|
rs1163061829
|
|
NM_206933.4(USH2A):c.13172_13175del (p.Val4391fs)
|
rs1553252409
|
|
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)
|
rs1057517533
|
|
NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter)
|
|
|
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
|
rs775556188
|
|
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
NM_206933.4(USH2A):c.13337delinsGTC (p.Asn4446fs)
|
rs1553252389
|
|
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter)
|
|
|
NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter)
|
|
|
NM_206933.4(USH2A):c.13556del (p.Ile4518_Leu4519insTer)
|
rs1553252363
|
|
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)
|
rs1657920193
|
|
NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter)
|
|
|
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)
|
rs553956503
|
|
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs)
|
rs1571947757
|
|
NM_206933.4(USH2A):c.13811+2T>C
|
rs766515318
|
|
NM_206933.4(USH2A):c.13812-1G>A
|
rs199782530
|
|
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026
|
|
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer)
|
rs1553252052
|
|
NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs)
|
|
|
NM_206933.4(USH2A):c.13985del (p.Gln4662fs)
|
rs1553252041
|
|
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs)
|
rs2102661317
|
|
NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs)
|
rs1553250416
|
|
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)
|
rs397517989
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs)
|
|
|
NM_206933.4(USH2A):c.14344-1G>A
|
rs919142559
|
|
NM_206933.4(USH2A):c.1435_1439del (p.Phe479fs)
|
|
|
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)
|
rs1553250192
|
|
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)
|
rs1553250184
|
|
NM_206933.4(USH2A):c.14582+1G>C
|
rs1553250150
|
|
NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter)
|
|
|
NM_206933.4(USH2A):c.14679del (p.Ala4894fs)
|
rs1553250077
|
|
NM_206933.4(USH2A):c.14747del (p.Gly4916fs)
|
rs2102642087
|
|
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
|
rs754834155
|
|
NM_206933.4(USH2A):c.14791+2T>A
|
rs1553250050
|
|
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)
|
rs2102636006
|
|
NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs)
|
rs1553249452
|
|
NM_206933.4(USH2A):c.14965_14968dup (p.Thr4990fs)
|
rs781625683
|
|
NM_206933.4(USH2A):c.14969-1G>A
|
rs1553249311
|
|
NM_206933.4(USH2A):c.14969-2A>G
|
rs2102634730
|
|
NM_206933.4(USH2A):c.14990G>A (p.Cys4997Tyr)
|
|
|
NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs)
|
|
|
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs)
|
rs1553249294
|
|
NM_206933.4(USH2A):c.15052+1G>A
|
rs1553249290
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter)
|
rs1571701072
|
|
NM_206933.4(USH2A):c.15322del (p.Arg5108fs)
|
rs1553248234
|
|
NM_206933.4(USH2A):c.15371del (p.Leu5124fs)
|
rs1656163649
|
|
NM_206933.4(USH2A):c.15380del (p.Pro5127fs)
|
rs1553248216
|
|
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter)
|
rs763463859
|
|
NM_206933.4(USH2A):c.1558del (p.Cys520fs)
|
rs878853410
|
|
NM_206933.4(USH2A):c.1659del (p.Leu553fs)
|
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro)
|
rs777701725
|
|
NM_206933.4(USH2A):c.1888del (p.Ala630fs)
|
rs2102606427
|
|
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser)
|
rs1487450999
|
|
NM_206933.4(USH2A):c.1994del (p.Lys665fs)
|
|
|
NM_206933.4(USH2A):c.199T>G (p.Cys67Gly)
|
rs2102788868
|
|
NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu)
|
rs45555435
|
|
NM_206933.4(USH2A):c.2168-1G>T
|
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)
|
|
|
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
|
|
|
NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter)
|
|
|
NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter)
|
|
|
NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs)
|
|
|
NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs)
|
|
|
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs)
|
rs2102545818
|
|
NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter)
|
|
|
NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs)
|
|
|
NM_206933.4(USH2A):c.2525del (p.Phe842fs)
|
|
|
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer)
|
rs1553320451
|
|
NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter)
|
|
|
NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs)
|
|
|
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)
|
rs1438734382
|
|
NM_206933.4(USH2A):c.2809+1G>C
|
rs759433119
|
|
NM_206933.4(USH2A):c.2809+2T>A
|
rs1553320397
|
|
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val)
|
rs1572074313
|
|
NM_206933.4(USH2A):c.2846_2849del (p.Leu949fs)
|
|
|
NM_206933.4(USH2A):c.2876_2877del (p.Val959fs)
|
|
|
NM_206933.4(USH2A):c.2962_2964delinsAA (p.His988fs)
|
|
|
NM_206933.4(USH2A):c.2994-2A>G
|
rs1553316430
|
|
NM_206933.4(USH2A):c.2996G>T (p.Cys999Phe)
|
rs2102496508
|
|
NM_206933.4(USH2A):c.302del (p.Phe101fs)
|
rs1553258076
|
|
NM_206933.4(USH2A):c.3072_3075del (p.Lys1024fs)
|
|
|
NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs)
|
|
|
NM_206933.4(USH2A):c.3082_3083del (p.Thr1028fs)
|
|
|
NM_206933.4(USH2A):c.3158-1G>T
|
|
|
NM_206933.4(USH2A):c.3158-6A>G
|
rs397518010
|
|
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)
|
rs1064797138
|
|
NM_206933.4(USH2A):c.3317-1G>A
|
rs1553313909
|
|
NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter)
|
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs)
|
|
|
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs)
|
rs1553313844
|
|
NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs)
|
|
|
NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs)
|
|
|
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)
|
rs762167370
|
|
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)
|
rs397518013
|
|
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)
|
rs397518014
|
|
NM_206933.4(USH2A):c.3589del (p.Ser1197fs)
|
rs1553313810
|
|
NM_206933.4(USH2A):c.3623G>A (p.Trp1208Ter)
|
|
|
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)
|
rs767797828
|
|
NM_206933.4(USH2A):c.3680dup (p.Cys1228fs)
|
rs1553313793
|
|
NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs)
|
|
|
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
|
rs2034938852
|
|
NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter)
|
|
|
NM_206933.4(USH2A):c.3812-3_3837dup
|
rs780071028
|
|
NM_206933.4(USH2A):c.3831_3834delinsG (p.Leu1278del)
|
rs1215540106
|
|
NM_206933.4(USH2A):c.387del (p.Phe129fs)
|
rs1484339054
|
|
NM_206933.4(USH2A):c.3891del (p.Gln1298fs)
|
rs1553313551
|
|
NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs)
|
|
|
NM_206933.4(USH2A):c.3967del (p.Thr1322_Met1323insTer)
|
rs527236136
|
|
NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter)
|
|
|
NM_206933.4(USH2A):c.4081+2T>C
|
rs1553313505
|
|
NM_206933.4(USH2A):c.4082-2A>G
|
rs1553313340
|
|
NM_206933.4(USH2A):c.4087del (p.Val1363fs)
|
rs2102460761
|
|
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729
|
|
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308
|
|
NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs)
|
|
|
NM_206933.4(USH2A):c.4251+1del
|
rs2102460236
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
NM_206933.4(USH2A):c.4409del (p.Leu1470fs)
|
|
|
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)
|
rs1553258037
|
|
NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter)
|
|
|
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs)
|
rs1553300558
|
|
NM_206933.4(USH2A):c.4858C>T (p.Gln1620Ter)
|
rs746900872
|
|
NM_206933.4(USH2A):c.486-2A>C
|
|
|
NM_206933.4(USH2A):c.4886-1G>A
|
rs1553300340
|
|
NM_206933.4(USH2A):c.4988-2A>G
|
rs143521854
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5083del (p.Ser1695fs)
|
rs1553300016
|
|
NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)
|
|
|
NM_206933.4(USH2A):c.5167+1G>T
|
rs794727408
|
|
NM_206933.4(USH2A):c.5288A>T (p.Asp1763Val)
|
|
|
NM_206933.4(USH2A):c.5294T>C (p.Leu1765Pro)
|
rs2102559645
|
|
NM_206933.4(USH2A):c.5499_5511del (p.Asn1834fs)
|
rs1553299046
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs)
|
rs1553299022
|
|
NM_206933.4(USH2A):c.5550T>A (p.Tyr1850Ter)
|
rs763831329
|
|
NM_206933.4(USH2A):c.5588dup (p.Met1863fs)
|
|
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.5777-2A>C
|
rs1064797136
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter)
|
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.5883_5884del (p.Arg1962fs)
|
rs1553297684
|
|
NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter)
|
|
|
NM_206933.4(USH2A):c.6050-2A>G
|
rs772124060
|
|
NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter)
|
|
|
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter)
|
rs1209837469
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6163+1G>A
|
rs2030617696
|
|
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs)
|
rs1553294144
|
|
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)
|
rs111033268
|
|
NM_206933.4(USH2A):c.6326-10882_6326-10769del
|
rs2102492616
|
|
NM_206933.4(USH2A):c.6326-2A>G
|
rs1553287118
|
|
NM_206933.4(USH2A):c.6326-3_6332del
|
rs1553287116
|
|
NM_206933.4(USH2A):c.6354del (p.Leu2119fs)
|
rs2102483305
|
|
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)
|
rs727503725
|
|
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
|
rs869312182
|
|
NM_206933.4(USH2A):c.647T>G (p.Val216Gly)
|
rs1571801514
|
|
NM_206933.4(USH2A):c.6485+1G>A
|
rs1553287070
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
NM_206933.4(USH2A):c.658C>T (p.Gln220Ter)
|
|
|
NM_206933.4(USH2A):c.6675dup (p.Cys2226fs)
|
rs1553285970
|
|
NM_206933.4(USH2A):c.6708_6717del (p.Asp2237fs)
|
rs1553285944
|
|
NM_206933.4(USH2A):c.6722C>A (p.Pro2241His)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.675_678del (p.Phe225fs)
|
rs2102708663
|
|
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)
|
rs727503723
|
|
NM_206933.4(USH2A):c.6805+1G>T
|
rs1553285919
|
|
NM_206933.4(USH2A):c.6810del (p.Ile2271fs)
|
rs1553282707
|
|
NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter)
|
|
|
NM_206933.4(USH2A):c.6868dup (p.Ser2290fs)
|
rs1553282698
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.6957+1G>C
|
rs2102458321
|
|
NM_206933.4(USH2A):c.698del (p.Asp233fs)
|
|
|
NM_206933.4(USH2A):c.703dup (p.Thr235fs)
|
|
|
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs)
|
rs1667314337
|
|
NM_206933.4(USH2A):c.7104_7105dup (p.Phe2369fs)
|
rs1553281890
|
|
NM_206933.4(USH2A):c.7120+1475A>G
|
|
|
NM_206933.4(USH2A):c.7130dup (p.Asn2377fs)
|
rs1553277866
|
|
NM_206933.4(USH2A):c.7184_7194del (p.Leu2395fs)
|
rs2102499717
|
|
NM_206933.4(USH2A):c.734_735del (p.Ser245fs)
|
|
|
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter)
|
rs483353056
|
|
NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs)
|
|
|
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)
|
rs1553274448
|
|
NM_206933.4(USH2A):c.7531del (p.Val2511fs)
|
rs1553274435
|
|
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)
|
rs1553274424
|
|
NM_206933.4(USH2A):c.7595-1G>A
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7595-1G>T
|
rs1553273421
|
|
NM_206933.4(USH2A):c.7595-2A>G
|
rs1064795047
|
|
NM_206933.4(USH2A):c.7620del (p.Leu2541fs)
|
rs1553273412
|
|
NM_206933.4(USH2A):c.7862del (p.Pro2621fs)
|
rs2102460381
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.793C>T (p.Gln265Ter)
|
|
|
NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter)
|
|
|
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)
|
rs397518036
|
|
NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter)
|
|
|
NM_206933.4(USH2A):c.8240del (p.Pro2747fs)
|
rs1553272201
|
|
NM_206933.4(USH2A):c.8266del (p.Ser2756fs)
|
rs1558141330
|
|
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter)
|
|
|
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)
|
rs2037760521
|
|
NM_206933.4(USH2A):c.8391del (p.Gly2799fs)
|
rs1553272176
|
|
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)
|
rs2037760415
|
|
NM_206933.4(USH2A):c.848+2T>C
|
rs2102658759
|
|
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter)
|
rs2102451648
|
|
NM_206933.4(USH2A):c.849-2A>G
|
rs2102656326
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
NM_206933.4(USH2A):c.8558+1G>T
|
rs770383273
|
|
NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro)
|
|
|
NM_206933.4(USH2A):c.8638_8641del (p.Tyr2880fs)
|
rs1553272035
|
|
NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter)
|
|
|
NM_206933.4(USH2A):c.8682-1G>A
|
rs1553271001
|
|
NM_206933.4(USH2A):c.8682-2A>C
|
rs1553271002
|
|
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg)
|
rs1571762632
|
|
NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter)
|
rs1553270960
|
|
NM_206933.4(USH2A):c.8845+1G>A
|
rs1553270954
|
|
NM_206933.4(USH2A):c.8846-1G>T
|
rs771051185
|
|
NM_206933.4(USH2A):c.8846-2A>G
|
rs1553268594
|
|
NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter)
|
|
|
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs)
|
rs1553268582
|
|
NM_206933.4(USH2A):c.9055+1G>A
|
rs1553268562
|
|
NM_206933.4(USH2A):c.9055+1del
|
rs1553268563
|
|
NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter)
|
|
|
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)
|
rs1269642027
|
|
NM_206933.4(USH2A):c.9191del (p.Thr3064fs)
|
rs1553268435
|
|
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs)
|
rs1553268434
|
|
NM_206933.4(USH2A):c.9258+1G>T
|
rs748810737
|
|
NM_206933.4(USH2A):c.9315del (p.Val3106fs)
|
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
NM_206933.4(USH2A):c.9379C>T (p.Gln3127Ter)
|
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)
|
rs1662880811
|
|
NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter)
|
rs1553265829
|
|
NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer)
|
rs2102796345
|
|
NM_206933.4(USH2A):c.956del (p.Cys319fs)
|
|
|
NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter)
|
|
|
NM_206933.4(USH2A):c.9739+1G>C
|
rs2102792994
|
|
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)
|
rs780036975
|
|
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs)
|
|
|
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
|
rs1571703801
|
|
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)
|
rs1285853856
|
|
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)
|
rs1288381992
|
|
NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs)
|
|
|
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter)
|
rs2138066721
|
|
NM_207361.6(FREM2):c.2533C>T (p.His845Tyr)
|
rs1869732816
|
|
NM_207361.6(FREM2):c.2833del (p.His945fs)
|
rs759257554
|
|
NM_207361.6(FREM2):c.3151C>T (p.Gln1051Ter)
|
rs376122266
|
|
NM_207361.6(FREM2):c.3761T>A (p.Leu1254Ter)
|
|
|
NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly)
|
rs1869886793
|
|
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs)
|
rs752032044
|
|
NM_207361.6(FREM2):c.6625dup (p.Tyr2209fs)
|
rs2137911471
|
|
NM_207361.6(FREM2):c.6680_6681dup (p.Phe2228fs)
|
|
|
NM_207361.6(FREM2):c.7546dup (p.Val2516fs)
|
|
|
NM_207361.6(FREM2):c.8082dup (p.Asp2695Ter)
|
|
|
NM_207361.6(FREM2):c.8376del (p.Val2793fs)
|
|
|
NM_213599.2(ANO5):c.[155A>G];[191dupA]
|
|
|
NM_213599.3(ANO5):c.1025G>A (p.Cys342Tyr)
|
|
|
NM_213599.3(ANO5):c.1180+1G>C
|
|
|
NM_213599.3(ANO5):c.1181-1G>A
|
|
|
NM_213599.3(ANO5):c.1261C>T (p.Gln421Ter)
|
rs1554930314
|
|
NM_213599.3(ANO5):c.1333-2A>G
|
rs2133730668
|
|
NM_213599.3(ANO5):c.1333-2A>T
|
rs2133730668
|
|
NM_213599.3(ANO5):c.1451G>A (p.Arg484His)
|
|
|
NM_213599.3(ANO5):c.1499C>T (p.Ser500Phe)
|
|
|
NM_213599.3(ANO5):c.1553G>A (p.Gly518Glu)
|
|
|
NM_213599.3(ANO5):c.1630+2T>G
|
rs1590300702
|
|
NM_213599.3(ANO5):c.1631-12_1631-2del
|
rs886043327
|
|
NM_213599.3(ANO5):c.1639C>G (p.Arg547Gly)
|
rs747719953
|
|
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter)
|
rs747719953
|
|
NM_213599.3(ANO5):c.1707C>G (p.Tyr569Ter)
|
|
|
NM_213599.3(ANO5):c.1767C>A (p.Tyr589Ter)
|
rs188150039
|
|
NM_213599.3(ANO5):c.180+2T>C
|
rs1564918396
|
|
NM_213599.3(ANO5):c.1801-1G>C
|
rs2133750487
|
|
NM_213599.3(ANO5):c.1898+1del
|
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)
|
|
|
NM_213599.3(ANO5):c.2414+1G>C
|
rs2133795361
|
|
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del)
|
rs794727350
|
|
NM_213599.3(ANO5):c.294+1G>A
|
|
|
NM_213599.3(ANO5):c.295-1G>A
|
rs780109230
|
|
NM_213599.3(ANO5):c.295-2A>G
|
|
|
NM_213599.3(ANO5):c.352del (p.Glu118fs)
|
rs878854367
|
|
NM_213599.3(ANO5):c.364-1G>A
|
rs1852871649
|
|
NM_213599.3(ANO5):c.395A>T (p.Lys132Met)
|
rs1852872996
|
|
NM_213599.3(ANO5):c.396G>C (p.Lys132Asn)
|
rs375867377
|
|
NM_213599.3(ANO5):c.40+2T>C
|
|
|
NM_213599.3(ANO5):c.649-2A>G
|
rs773736505
|
|
NM_213599.3(ANO5):c.878+1G>A
|
|
|
NM_213599.3(ANO5):c.88-1G>A
|
|
|
NM_213599.3(ANO5):c.952G>C (p.Ala318Pro)
|
rs2133702263
|
|
NM_213599.3(ANO5):c.[1520del];[155A>G]
|
|
|
NP_005700.2(USH1C):p.Arg357Trp
|
|
|
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC
|
rs727502776
|
|
NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC
|
rs1554651486
|
|
NR_003051.3(RMRP):n.-11_-2dup10
|
rs1587919129
|
|
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA
|
rs1554651425
|
|
NR_003051.3(RMRP):n.-13_-2dup
|
rs1554651400
|
|
NR_003051.3(RMRP):n.-13_-4dup10
|
rs1554651424
|
|
NR_003051.3(RMRP):n.-13_-6dup
|
rs1563907946
|
|
NR_003051.3(RMRP):n.-15_-6dup
|
rs1554651447
|
|
NR_003051.3(RMRP):n.-15_-8dup
|
rs1230629953
|
|
NR_003051.3(RMRP):n.-17_-3dup15
|
rs1823634410
|
|
NR_003051.3(RMRP):n.-17_-5dup13
|
rs1823637491
|
|
NR_003051.3(RMRP):n.-18_-17ins14
|
rs1554651544
|
|
NR_003051.3(RMRP):n.-18_-1dup
|
rs1554651396
|
|
NR_003051.3(RMRP):n.-18_-2dup17
|
rs1587919165
|
|
NR_003051.3(RMRP):n.-18_-7dup12
|
rs1554651466
|
|
NR_003051.3(RMRP):n.-18_-8dup11
|
rs1230629953
|
|
NR_003051.3(RMRP):n.-18_-9dup10
|
rs1554651481
|
|
NR_003051.3(RMRP):n.-19_-18insTCTGTGAAGCTGGGGAC
|
rs1823648167
|
|
NR_003051.3(RMRP):n.-19_-5dup
|
rs1823637565
|
|
NR_003051.3(RMRP):n.-19_1dup20
|
rs1554651382
|
|
NR_003051.3(RMRP):n.-1_1ins16
|
rs1554651395
|
|
NR_003051.3(RMRP):n.-1_1ins21
|
rs1218494857
|
|
NR_003051.3(RMRP):n.-1_1ins22
|
rs1554651397
|
|
NR_003051.3(RMRP):n.-20_-10dup
|
rs1554651486
|
|
NR_003051.3(RMRP):n.-20_-12dup
|
rs1554651503
|
|
NR_003051.3(RMRP):n.-20_-13dup
|
rs1554651512
|
|
NR_003051.3(RMRP):n.-20_-19insTCTGTGAAGCTGGGGAC
|
rs1554651469
|
|
NR_003051.3(RMRP):n.-20_-3dup
|
rs1554651418
|
|
NR_003051.3(RMRP):n.-20_-7dup14
|
rs1823639713
|
|
NR_003051.3(RMRP):n.-21_-12dup10
|
rs1554651503
|
|
NR_003051.3(RMRP):n.-21_-4dup
|
rs1563907881
|
|
NR_003051.3(RMRP):n.-21_-6dup16
|
rs1554651451
|
|
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT
|
rs751921616
|
|
NR_003051.3(RMRP):n.-22_-11dup
|
rs1179735603
|
|
NR_003051.3(RMRP):n.-22_-3dup
|
rs1554651411
|
|
NR_003051.3(RMRP):n.-23_-13dup
|
rs1554651513
|
|
NR_003051.3(RMRP):n.-23_-14dup10
|
rs1554651524
|
|
NR_003051.3(RMRP):n.-23_-7dup17
|
rs920074067
|
|
NR_003051.3(RMRP):n.-24_-10dup
|
rs727502776
|
|
NR_003051.3(RMRP):n.-24_-15dup10
|
rs1554651532
|
|
NR_003051.3(RMRP):n.-24_-18dup
|
rs1554651543
|
|
NR_003051.3(RMRP):n.-24_-3dup22
|
rs1554651411
|
|
NR_003051.3(RMRP):n.-24_-4dup
|
rs1563907883
|
|
NR_003051.3(RMRP):n.-25_-12dup
|
rs1554651499
|
|
NR_003051.3(RMRP):n.-25_-13dup
|
rs1554651508
|
|
NR_003051.3(RMRP):n.-25_-14dup12
|
rs1554651526
|
|
NR_003051.3(RMRP):n.-25_-6dup
|
rs1554651445
|
|
NR_003051.3(RMRP):n.-26_-10dup
|
rs1554651491
|
|
NR_003051.3(RMRP):n.-27_-6dup22
|
rs1823638952
|
|
NR_003051.3(RMRP):n.-3_-2ins20
|
rs1554651405
|
|
NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG
|
rs1554651451
|
|
NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA
|
rs1554651439
|
|
NR_003051.3(RMRP):n.-7_-6ins16
|
rs1554651461
|
|
NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA
|
rs1823639598
|
|
NR_003051.3(RMRP):n.-7_1dup
|
rs752934195
|
|
NR_003051.3(RMRP):n.-7_2dup9
|
rs1554651365
|
|
NR_003051.3(RMRP):n.-8_-7ins15
|
rs1230629953
|
|
NR_003051.3(RMRP):n.-8_-7ins20
|
rs1554651471
|
|
NR_003051.3(RMRP):n.-9_1dup
|
rs752934195
|
|
NR_003051.3(RMRP):n.147G>A
|
rs753874439
|
|
NR_003051.3(RMRP):n.1_2ins13
|
rs1554651368
|
|
NR_003051.3(RMRP):n.2_3ins15
|
rs1554651364
|
|
NR_003051.3(RMRP):n.3_4ins10
|
rs759665242
|
|
NR_003051.4(RMRP):n.129G>A
|
rs74810894
|
|
NR_003051.4(RMRP):n.184G>T
|
rs1554651153
|
|
NR_003051.4(RMRP):n.213C>G
|
rs192060920
|
|
NR_003051.4(RMRP):n.220A>G
|
rs936059863
|
|
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG
|
rs1383432106
|
|
NR_003051.4(RMRP):n.97_98dup
|
rs1340624774
|
|
Single allele
|
|
|