NM_000492.3(CFTR):c.-102A=
|
rs1797973431
|
0.99999
|
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)
|
rs2238472
|
0.22903
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr)
|
rs3807153
|
0.09195
|
NM_001395413.1(POR):c.6A>G (p.Gly2=)
|
rs10262966
|
0.07713
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_004937.3(CTNS):c.-635G>C
|
rs112140949
|
0.01378
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
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_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser)
|
rs61761068
|
0.00859
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg)
|
rs200879436
|
0.00450
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
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_016239.4(MYO15A):c.3026C>A (p.Pro1009His)
|
rs117612144
|
0.00347
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)
|
rs119103280
|
0.00303
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
|
rs41298135
|
0.00281
|
NM_004004.6(GJB2):c.-45C>A
|
rs397516868
|
0.00245
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000441.1(SLC26A4):c.-103T>C
|
rs60284988
|
0.00209
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_153676.4(USH1C):c.2014-1G>A
|
rs150567427
|
0.00183
|
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_183065.4(TMEM107):c.*759C>T
|
rs201787275
|
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
|
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_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)
|
rs104893968
|
0.00130
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_002470.4(MYH3):c.-9+1G>A
|
rs557849165
|
0.00117
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_002796.3(PSMB4):c.-9G>A
|
rs200946642
|
0.00112
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)
|
rs147149459
|
0.00105
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_031307.4(PUS3):c.-47+3170T>C
|
rs104894232
|
0.00103
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00099
|
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)
|
rs145451123
|
0.00098
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly)
|
rs142872154
|
0.00097
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)
|
rs116471343
|
0.00096
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_000518.5(HBB):c.-79A>G
|
rs34598529
|
0.00091
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
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_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
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_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)
|
rs138269726
|
0.00078
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
NM_001009994.3(RIPPLY2):c.240-4T>G
|
rs370933531
|
0.00074
|
NM_000492.4(CFTR):c.1210-11_1210-10insG
|
rs551227135
|
0.00072
|
NM_001195263.2(PDZD7):c.2319_2328del (p.Ser774fs)
|
rs753591187
|
0.00072
|
NM_001195263.2(PDZD7):c.2330_2331del (p.Arg777fs)
|
rs766167046
|
0.00072
|
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)
|
rs117209107
|
0.00072
|
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00071
|
NM_015294.6(TRIM37):c.493-2A>G
|
rs186251998
|
0.00070
|
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp)
|
rs63750759
|
0.00069
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_005797.4(MPZL2):c.72del (p.Ile24fs)
|
rs752672077
|
0.00069
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met)
|
rs144938364
|
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_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_018429.3(BDP1):c.7873T>G (p.Ter2625Glu)
|
rs199721728
|
0.00055
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
NM_003805.5(CRADD):c.509G>A (p.Arg170His)
|
rs141179774
|
0.00053
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys)
|
rs149039053
|
0.00049
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00049
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
NM_005199.5(CHRNG):c.459dup (p.Val154fs)
|
rs774279192
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000492.4(CFTR):c.601G>A (p.Val201Met)
|
rs138338446
|
0.00046
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)
|
rs143797113
|
0.00046
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_001218.5(CA12):c.908-1G>A
|
rs148438059
|
0.00043
|
NM_004260.4(RECQL4):c.1390+2del
|
rs386833843
|
0.00043
|
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)
|
rs28937590
|
0.00042
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter)
|
rs146689036
|
0.00041
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)
|
rs146457619
|
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_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu)
|
rs141972928
|
0.00038
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)
|
rs140076803
|
0.00036
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu)
|
rs80356706
|
0.00035
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_001813.3(CENPE):c.4063A>G (p.Lys1355Glu)
|
rs141488085
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)
|
rs17847577
|
0.00033
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
NM_003104.6(SORD):c.458C>A (p.Ala153Asp)
|
rs145813597
|
0.00033
|
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_183065.4(TMEM107):c.*638C>T
|
rs368022715
|
0.00032
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)
|
rs115209243
|
0.00031
|
NM_194248.3(OTOF):c.4023+1G>A
|
rs186810296
|
0.00031
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)
|
rs121908576
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00029
|
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)
|
rs63159160
|
0.00029
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_001077418.3(TMEM231):c.139+47C>A
|
rs200063331
|
0.00029
|
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu)
|
rs138768918
|
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_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)
|
rs121912799
|
0.00028
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
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_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)
|
rs121434430
|
0.00027
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)
|
rs767503038
|
0.00026
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)
|
rs185142838
|
0.00025
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_002160.4(TNC):c.5317G>A (p.Val1773Met)
|
rs137933052
|
0.00025
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly)
|
rs200635860
|
0.00025
|
NM_170784.3(MKKS):c.250C>T (p.His84Tyr)
|
rs281797258
|
0.00025
|
NM_183065.4(TMEM107):c.*678G>A
|
rs372252345
|
0.00025
|
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)
|
rs199766465
|
0.00025
|
NM_000163.5(GHR):c.718T>C (p.Tyr240His)
|
rs143814221
|
0.00024
|
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)
|
rs201419367
|
0.00024
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter)
|
rs367810877
|
0.00024
|
NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter)
|
rs369437168
|
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_001379286.1(ZNF423):c.2762C>T (p.Pro921Leu)
|
rs200585917
|
0.00023
|
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
0.00023
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)
|
rs147875659
|
0.00022
|
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys)
|
rs1306393544
|
0.00022
|
NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter)
|
rs370032864
|
0.00022
|
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_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
|
rs28939086
|
0.00021
|
NM_001080476.3(GRXCR1):c.627+19A>T
|
rs201824235
|
0.00021
|
NM_003384.3(VRK1):c.1160G>A (p.Arg387His)
|
rs1420939606
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_014396.4(VPS41):c.1984C>T (p.Arg662Ter)
|
rs199716160
|
0.00021
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)
|
rs772731615
|
0.00020
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000083.3(CLCN1):c.180+3A>T
|
rs202217420
|
0.00019
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
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_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)
|
rs111033199
|
0.00019
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter)
|
rs72650699
|
0.00019
|
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter)
|
rs142746163
|
0.00019
|
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr)
|
rs181949335
|
0.00019
|
NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser)
|
rs200708284
|
0.00019
|
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg)
|
rs121908449
|
0.00019
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
0.00019
|
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)
|
rs141458677
|
0.00019
|
NM_020661.4(AICDA):c.416T>C (p.Met139Thr)
|
rs200858797
|
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_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)
|
rs74315318
|
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_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
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_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00017
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_001171.6(ABCC6):c.2787+1G>T
|
rs72664209
|
0.00017
|
NM_001276277.3(PPIP5K2):c.2510G>A (p.Arg837His)
|
rs548137246
|
0.00017
|
NM_001349232.2(ATG7):c.1975C>T (p.Arg659Ter)
|
rs201706487
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)
|
rs371024165
|
0.00017
|
NM_006793.5(PRDX3):c.604G>A (p.Asp202Asn)
|
rs548327727
|
0.00017
|
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile)
|
rs139808557
|
0.00017
|
NM_032237.5(POMK):c.136C>T (p.Arg46Ter)
|
rs202036744
|
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_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter)
|
rs377748152
|
0.00016
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)
|
rs281865548
|
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_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
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_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
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_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)
|
rs375836844
|
0.00015
|
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)
|
rs137852994
|
0.00015
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
|
rs79436363
|
0.00015
|
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)
|
rs142898216
|
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_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)
|
rs80338802
|
0.00014
|
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)
|
rs757475924
|
0.00014
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter)
|
rs121913015
|
0.00014
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)
|
rs1191496583
|
0.00014
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
NM_000782.5(CYP24A1):c.443T>C (p.Leu148Pro)
|
rs139763321
|
0.00014
|
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)
|
rs199766569
|
0.00014
|
NM_003937.3(KYNU):c.170-1G>T
|
rs1135401744
|
0.00014
|
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)
|
rs753325454
|
0.00014
|
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)
|
rs121918376
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs)
|
rs762606406
|
0.00014
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
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_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)
|
rs886041302
|
0.00013
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_001195305.3(BBIP1):c.38-6T>C
|
rs541703290
|
0.00013
|
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys)
|
rs534438354
|
0.00013
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs)
|
rs746636748
|
0.00013
|
NM_004614.5(TK2):c.323C>T (p.Thr108Met)
|
rs137854431
|
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_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_015910.7(WDPCP):c.979C>T (p.Gln327Ter)
|
rs182144885
|
0.00013
|
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)
|
rs200451098
|
0.00013
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter)
|
rs121434233
|
0.00013
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)
|
rs386834153
|
0.00013
|
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg)
|
rs755572135
|
0.00013
|
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg)
|
rs748770309
|
0.00013
|
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)
|
rs137853137
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_213599.3(ANO5):c.1960C>T (p.Arg654Ter)
|
rs1488095558
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter)
|
rs72653744
|
0.00012
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_004260.4(RECQL4):c.2464-1G>C
|
rs398124117
|
0.00012
|
NM_014889.4(PITRM1):c.2792C>T (p.Thr931Met)
|
rs187308159
|
0.00012
|
NM_017433.5(MYO3A):c.892C>T (p.Gln298Ter)
|
rs563832490
|
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_147127.5(EVC2):c.2848C>T (p.Arg950Trp)
|
rs137852928
|
0.00012
|
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)
|
rs758217005
|
0.00012
|
NM_153717.3(EVC):c.1694del (p.Ala565fs)
|
rs753014919
|
0.00012
|
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter)
|
rs111033383
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)
|
rs35138315
|
0.00011
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)
|
rs62644499
|
0.00011
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)
|
rs61752873
|
0.00011
|
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)
|
rs104894317
|
0.00011
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)
|
rs62638214
|
0.00011
|
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00011
|
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)
|
rs121908578
|
0.00011
|
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln)
|
rs72653772
|
0.00011
|
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln)
|
rs63751086
|
0.00011
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00011
|
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu)
|
rs140649226
|
0.00011
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu)
|
rs80358273
|
0.00011
|
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)
|
rs747067203
|
0.00011
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)
|
rs372466080
|
0.00011
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)
|
rs201735454
|
0.00011
|
NM_018451.5(CENPJ):c.634G>T (p.Glu212Ter)
|
rs765113367
|
0.00011
|
NM_020921.4(NIN):c.3665A>G (p.Gln1222Arg)
|
rs187464517
|
0.00011
|
NM_024063.3(AFG2B):c.1398T>G (p.Ile466Met)
|
rs34675173
|
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_153700.2(STRC):c.4057C>T (p.Gln1353Ter)
|
rs774312182
|
0.00011
|
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)
|
rs377480477
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter)
|
rs967105970
|
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_000271.5(NPC1):c.2861C>T (p.Ser954Leu)
|
rs543206298
|
0.00010
|
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)
|
rs77958223
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)
|
rs61753238
|
0.00010
|
NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)
|
rs376556895
|
0.00010
|
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)
|
rs397508276
|
0.00010
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter)
|
rs118204026
|
0.00010
|
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter)
|
rs118203989
|
0.00010
|
NM_001184.4(ATR):c.6897+464C>G
|
rs587777852
|
0.00010
|
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp)
|
rs201632198
|
0.00010
|
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys)
|
rs540217942
|
0.00010
|
NM_003573.2(LTBP4):c.254del (p.Leu85fs)
|
rs747013505
|
0.00010
|
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp)
|
rs201253919
|
0.00010
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)
|
rs371263807
|
0.00010
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00010
|
NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln)
|
rs573267388
|
0.00010
|
NM_020632.3(ATP6V0A4):c.2458G>A (p.Gly820Arg)
|
rs267606671
|
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_033109.5(PNPT1):c.1619A>G (p.Asn540Ser)
|
rs202190573
|
0.00010
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
NM_152443.3(RDH12):c.701G>A (p.Arg234His)
|
rs750636662
|
0.00010
|
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
NM_153704.6(TMEM67):c.224-2del
|
rs386834190
|
0.00010
|
NM_176824.3(BBS7):c.968A>G (p.His323Arg)
|
rs119466001
|
0.00010
|
NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met)
|
rs104893976
|
0.00010
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00010
|
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly)
|
rs199501657
|
0.00010
|
NR_003051.4(RMRP):n.244A>G
|
rs551450545
|
0.00010
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs)
|
rs761897806
|
0.00009
|
NM_000070.3(CAPN3):c.2362_2363insTC (p.Arg788fs)
|
rs80338804
|
0.00009
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000277.3(PAH):c.434A>T (p.Asp145Val)
|
rs140175796
|
0.00009
|
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)
|
rs76687508
|
0.00009
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
|
rs774130993
|
0.00009
|
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)
|
rs1429137932
|
0.00009
|
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)
|
rs121913026
|
0.00009
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)
|
rs111033302
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
|
rs118203957
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
|
rs1442638461
|
0.00009
|
NM_001083961.2(WDR62):c.1043+3A>G
|
rs587784541
|
0.00009
|
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His)
|
rs63750427
|
0.00009
|
NM_001177701.3(IFT27):c.352+1G>T
|
rs780659194
|
0.00009
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg)
|
rs121964881
|
0.00009
|
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)
|
rs387906639
|
0.00009
|
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)
|
rs762742204
|
0.00009
|
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)
|
rs137853229
|
0.00009
|
NM_005422.4(TECTA):c.248C>T (p.Thr83Met)
|
rs145898158
|
0.00009
|
NM_005879.3(TRAIP):c.553C>T (p.Arg185Ter)
|
rs767664526
|
0.00009
|
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)
|
rs200844390
|
0.00009
|
NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter)
|
rs778043242
|
0.00009
|
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs)
|
rs762334954
|
0.00009
|
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)
|
rs369483167
|
0.00009
|
NM_016239.4(MYO15A):c.5964+3G>C
|
rs530975087
|
0.00009
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)
|
rs756147087
|
0.00009
|
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)
|
rs79746977
|
0.00009
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_032119.4(ADGRV1):c.14973-2A>G
|
rs371981035
|
0.00009
|
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter)
|
rs138329739
|
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_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)
|
rs267607119
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)
|
rs139618850
|
0.00009
|
NM_213599.3(ANO5):c.1898+1G>A
|
rs142027093
|
0.00009
|
NM_000163.5(GHR):c.703C>T (p.Arg235Ter)
|
rs121909363
|
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_000329.3(RPE65):c.1102T>C (p.Tyr368His)
|
rs62653011
|
0.00008
|
NM_000372.5(TYR):c.613C>A (p.Pro205Thr)
|
rs61754362
|
0.00008
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)
|
rs200056620
|
0.00008
|
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
|
rs62641228
|
0.00008
|
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys)
|
rs28939702
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_001329943.3(KIAA0586):c.1254-1G>C
|
rs757350052
|
0.00008
|
NM_001378615.1(CC2D2A):c.1017+1G>A
|
rs200407856
|
0.00008
|
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)
|
rs137853074
|
0.00008
|
NM_002617.4(PEX10):c.704dup (p.Leu236fs)
|
rs61750435
|
0.00008
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
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_004004.6(GJB2):c.370C>T (p.Gln124Ter)
|
rs397516874
|
0.00008
|
NM_004614.5(TK2):c.416C>T (p.Ala139Val)
|
rs281865494
|
0.00008
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)
|
rs137852927
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro)
|
rs199610988
|
0.00007
|
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)
|
rs752492870
|
0.00007
|
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_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_000277.3(PAH):c.896T>G (p.Phe299Cys)
|
rs62642933
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_001017420.3(ESCO2):c.1132-7A>G
|
rs80359862
|
0.00007
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)
|
rs587776906
|
0.00007
|
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)
|
rs147277149
|
0.00007
|
NM_002454.3(MTRR):c.903+469T>C
|
rs893229476
|
0.00007
|
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)
|
rs373804633
|
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_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
NM_006793.5(PRDX3):c.425C>G (p.Ala142Gly)
|
rs202061531
|
0.00007
|
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr)
|
rs281875318
|
0.00007
|
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)
|
rs121918374
|
0.00007
|
NM_013335.4(GMPPA):c.637_640dup (p.Trp214fs)
|
rs745806762
|
0.00007
|
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)
|
rs121918548
|
0.00007
|
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His)
|
rs376351191
|
0.00007
|
NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs)
|
rs747831095
|
0.00007
|
NM_018294.6(CWF19L1):c.964+1G>A
|
rs587780326
|
0.00007
|
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)
|
rs765632065
|
0.00007
|
NM_022124.6(CDH23):c.336+1G>A
|
rs764824311
|
0.00007
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)
|
rs121908121
|
0.00007
|
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)
|
rs760222236
|
0.00007
|
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)
|
rs104894471
|
0.00007
|
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter)
|
rs727503444
|
0.00007
|
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)
|
rs375661404
|
0.00007
|
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)
|
rs62636264
|
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_000070.3(CAPN3):c.499-1G>A
|
rs863224964
|
0.00006
|
NM_000082.4(ERCC8):c.173+1119G>C
|
rs1043679457
|
0.00006
|
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)
|
rs121434326
|
0.00006
|
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)
|
rs777685454
|
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.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_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)
|
rs61752123
|
0.00006
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_000372.5(TYR):c.229C>T (p.Arg77Trp)
|
rs61753184
|
0.00006
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00006
|
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)
|
rs72547561
|
0.00006
|
NM_000400.4(ERCC2):c.335G>A (p.Arg112His)
|
rs121913020
|
0.00006
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met)
|
rs370029782
|
0.00006
|
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
|
rs111033308
|
0.00006
|
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)
|
rs111033316
|
0.00006
|
NM_000466.3(PEX1):c.2926+1G>A
|
rs267608179
|
0.00006
|
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)
|
rs75549581
|
0.00006
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
|
rs78194216
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)
|
rs1800123
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000518.5(HBB):c.75T>A (p.Gly25=)
|
rs33951465
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu)
|
rs760203204
|
0.00006
|
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)
|
rs727503968
|
0.00006
|
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)
|
rs776962899
|
0.00006
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00006
|
NM_001077365.2(POMT1):c.579_580del (p.Val195fs)
|
rs1032439203
|
0.00006
|
NM_001099287.2(NIPAL4):c.239G>T (p.Gly80Val)
|
rs775903553
|
0.00006
|
NM_001099287.2(NIPAL4):c.277+5G>A
|
rs376074083
|
0.00006
|
NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg)
|
rs375688767
|
0.00006
|
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)
|
rs121918165
|
0.00006
|
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00006
|
NM_001139.3(ALOX12B):c.1163C>T (p.Ala388Val)
|
rs202128350
|
0.00006
|
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met)
|
rs199545653
|
0.00006
|
NM_001139.3(ALOX12B):c.1654+3A>G
|
rs371537819
|
0.00006
|
NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly)
|
rs281865414
|
0.00006
|
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)
|
rs72653788
|
0.00006
|
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln)
|
rs67561842
|
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_001199799.2(ILDR1):c.942C>A (p.Cys314Ter)
|
rs752714222
|
0.00006
|
NM_001267550.2(TTN):c.39974-11T>G
|
rs758597536
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_001283009.2(RTEL1):c.3110-2A>T
|
rs377461417
|
0.00006
|
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)
|
rs267606709
|
0.00006
|
NM_001384474.1(LOXHD1):c.3061+1G>A
|
rs537227442
|
0.00006
|
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)
|
rs530569572
|
0.00006
|
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)
|
rs782261248
|
0.00006
|
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg)
|
rs781734780
|
0.00006
|
NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter)
|
rs730880125
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
0.00006
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys)
|
rs774047299
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp)
|
rs778665661
|
0.00006
|
NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn)
|
rs397514746
|
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_006907.4(PYCR1):c.752G>A (p.Arg251His)
|
rs121918378
|
0.00006
|
NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)
|
rs267606854
|
0.00006
|
NM_014026.6(DCPS):c.260C>T (p.Thr87Met)
|
rs138737928
|
0.00006
|
NM_014026.6(DCPS):c.947C>T (p.Thr316Met)
|
rs137941190
|
0.00006
|
NM_014425.5(INVS):c.1453del (p.Gln485fs)
|
rs753348470
|
0.00006
|
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)
|
rs569364202
|
0.00006
|
NM_015278.5(SASH1):c.1849G>A (p.Glu617Lys)
|
rs587781245
|
0.00006
|
NM_016122.3(CEP83):c.907C>T (p.Arg303Ter)
|
rs757301110
|
0.00006
|
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs)
|
rs766187994
|
0.00006
|
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)
|
rs749136456
|
0.00006
|
NM_016239.4(MYO15A):c.8714-1G>A
|
rs377015931
|
0.00006
|
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter)
|
rs368928190
|
0.00006
|
NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter)
|
rs752352896
|
0.00006
|
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter)
|
rs587783211
|
0.00006
|
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)
|
rs80044281
|
0.00006
|
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
|
rs564625875
|
0.00006
|
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)
|
rs771578775
|
0.00006
|
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser)
|
rs119468009
|
0.00006
|
NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter)
|
rs770593694
|
0.00006
|
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser)
|
rs387907308
|
0.00006
|
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)
|
rs142908436
|
0.00006
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
NM_022464.5(SIL1):c.1030-9G>A
|
rs370290043
|
0.00006
|
NM_024063.3(AFG2B):c.2147_2148del (p.Gln716fs)
|
rs763343580
|
0.00006
|
NM_024063.3(AFG2B):c.606_619dup (p.Glu207fs)
|
rs765912979
|
0.00006
|
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)
|
rs752140135
|
0.00006
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)
|
rs377160857
|
0.00006
|
NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys)
|
rs200652608
|
0.00006
|
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)
|
rs757696771
|
0.00006
|
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)
|
rs200478425
|
0.00006
|
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)
|
rs121908073
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)
|
rs180675584
|
0.00006
|
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
|
rs200432861
|
0.00006
|
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)
|
rs767072839
|
0.00006
|
NM_148919.4(PSMB8):c.224C>T (p.Thr75Met)
|
rs748082671
|
0.00006
|
NM_153240.5(NPHP3):c.958-2A>G
|
rs780148543
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)
|
rs386834202
|
0.00006
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)
|
rs766132697
|
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_176824.3(BBS7):c.632C>T (p.Thr211Ile)
|
rs119466002
|
0.00006
|
NM_183065.4(TMEM107):c.*686A>G
|
rs201558321
|
0.00006
|
NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs)
|
rs752248403
|
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.12295-3T>A
|
rs111033518
|
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
|
NM_213599.3(ANO5):c.41-1G>A
|
rs398124625
|
0.00006
|
NR_003051.4(RMRP):n.264G>T
|
rs727502774
|
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_000070.3(CAPN3):c.258dup (p.Leu87fs)
|
rs753360208
|
0.00005
|
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)
|
rs121434324
|
0.00005
|
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)
|
rs371334239
|
0.00005
|
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met)
|
rs201615111
|
0.00005
|
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)
|
rs121917901
|
0.00005
|
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp)
|
rs200637525
|
0.00005
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000271.5(NPC1):c.1123A>G (p.Thr375Ala)
|
rs746372120
|
0.00005
|
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser)
|
rs773767253
|
0.00005
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
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_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)
|
rs119455954
|
0.00005
|
NM_000400.4(ERCC2):c.1867dup (p.Val623fs)
|
rs756630156
|
0.00005
|
NM_000441.2(SLC26A4):c.165-1G>A
|
rs759792660
|
0.00005
|
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)
|
rs1421964916
|
0.00005
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000492.4(CFTR):c.3469-20T>C
|
rs373002889
|
0.00005
|
NM_000518.5(HBB):c.*110T>C
|
rs33978907
|
0.00005
|
NM_000518.5(HBB):c.316-197C>T
|
rs34451549
|
0.00005
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_001077418.3(TMEM231):c.664+4A>G
|
rs760426025
|
0.00005
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00005
|
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)
|
rs201454788
|
0.00005
|
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)
|
rs397515398
|
0.00005
|
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)
|
rs398123799
|
0.00005
|
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu)
|
rs752509098
|
0.00005
|
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs)
|
rs72664233
|
0.00005
|
NM_001194998.2(CEP152):c.1155del (p.Thr386fs)
|
rs587783414
|
0.00005
|
NM_001199107.2(TBC1D24):c.1008del (p.His336fs)
|
rs398122967
|
0.00005
|
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter)
|
rs745800110
|
0.00005
|
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter)
|
rs201257588
|
0.00005
|
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys)
|
rs767778853
|
0.00005
|
NM_001267550.2(TTN):c.86821+2T>A
|
rs397517735
|
0.00005
|
NM_001378609.3(OTOGL):c.975del (p.Leu325fs)
|
rs766753922
|
0.00005
|
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala)
|
rs750302536
|
0.00005
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)
|
rs373118250
|
0.00005
|
NM_003805.5(CRADD):c.382G>C (p.Gly128Arg)
|
rs387906861
|
0.00005
|
NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter)
|
rs758865880
|
0.00005
|
NM_005883.3(APC2):c.1063G>A (p.Val355Ile)
|
rs751785909
|
0.00005
|
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu)
|
rs121909340
|
0.00005
|
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro)
|
rs145907585
|
0.00005
|
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter)
|
rs376879175
|
0.00005
|
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs)
|
rs1368105372
|
0.00005
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00005
|
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys)
|
rs387906886
|
0.00005
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
NM_016239.4(MYO15A):c.6046+1G>A
|
rs201978571
|
0.00005
|
NM_017613.4(DONSON):c.494T>C (p.Phe165Ser)
|
rs1010722195
|
0.00005
|
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys)
|
rs36038536
|
0.00005
|
NM_017807.4(OSGEP):c.530G>C (p.Gly177Ala)
|
rs778931753
|
0.00005
|
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys)
|
rs374322839
|
0.00005
|
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter)
|
rs121918330
|
0.00005
|
NM_018249.6(CDK5RAP2):c.4005-1G>A
|
rs587783387
|
0.00005
|
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro)
|
rs1468772495
|
0.00005
|
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter)
|
rs199840434
|
0.00005
|
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter)
|
rs183478189
|
0.00005
|
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)
|
rs199922550
|
0.00005
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_024753.5(TTC21B):c.2913dup (p.Val972fs)
|
rs867205119
|
0.00005
|
NM_025103.4(IFT74):c.1685-1G>T
|
rs200699377
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln)
|
rs387906917
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)
|
rs398124502
|
0.00005
|
NM_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_194248.3(OTOF):c.2887C>T (p.Arg963Ter)
|
rs80356595
|
0.00005
|
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.1001A>T (p.His334Leu)
|
rs749863676
|
0.00004
|
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)
|
rs863224959
|
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.2551G>A (p.Val851Met)
|
rs749205522
|
0.00004
|
NM_000083.3(CLCN1):c.726T>A (p.Cys242Ter)
|
rs757481015
|
0.00004
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter)
|
rs368434069
|
0.00004
|
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr)
|
rs121434576
|
0.00004
|
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)
|
rs121917904
|
0.00004
|
NM_000144.5(FXN):c.389G>T (p.Gly130Val)
|
rs104894107
|
0.00004
|
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln)
|
rs764670582
|
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_000232.5(SGCB):c.1_2del (p.Met1fs)
|
rs886042503
|
0.00004
|
NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter)
|
rs886082025
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)
|
rs121965085
|
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.700C>T (p.Gln234Ter)
|
rs41298133
|
0.00004
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
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.331C>T (p.Arg111Ter)
|
rs76296470
|
0.00004
|
NM_000277.3(PAH):c.472C>T (p.Arg158Trp)
|
rs75166491
|
0.00004
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)
|
rs62514957
|
0.00004
|
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00004
|
NM_000302.4(PLOD1):c.1651-2A>G
|
rs565513365
|
0.00004
|
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
|
rs61751282
|
0.00004
|
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)
|
rs61751277
|
0.00004
|
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)
|
rs767635052
|
0.00004
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00004
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)
|
rs62645916
|
0.00004
|
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)
|
rs62645917
|
0.00004
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)
|
rs1031268531
|
0.00004
|
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)
|
rs756564767
|
0.00004
|
NM_000400.4(ERCC2):c.183+2T>A
|
rs201127596
|
0.00004
|
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)
|
rs121913024
|
0.00004
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)
|
rs111033220
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)
|
rs786204421
|
0.00004
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
NM_000492.4(CFTR):c.1766+1G>A
|
rs121908748
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.2988G>A (p.Gln996=)
|
rs121908797
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
0.00004
|
NM_000518.5(HBB):c.-137C>A
|
rs33941377
|
0.00004
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
NM_000543.5(SMPD1):c.605G>A (p.Arg202His)
|
rs757850587
|
0.00004
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys)
|
rs387907324
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)
|
rs188850202
|
0.00004
|
NM_000784.4(CYP27A1):c.845-1G>A
|
rs397515353
|
0.00004
|
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys)
|
rs746164064
|
0.00004
|
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter)
|
rs775449384
|
0.00004
|
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter)
|
rs138775799
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001048174.2(MUTYH):c.305-1G>C
|
rs372267274
|
0.00004
|
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter)
|
rs587780082
|
0.00004
|
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
|
rs372673338
|
0.00004
|
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)
|
rs794727208
|
0.00004
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)
|
rs776838028
|
0.00004
|
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
|
rs398123787
|
0.00004
|
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)
|
rs863225147
|
0.00004
|
NM_001139.3(ALOX12B):c.1265C>T (p.Pro422Leu)
|
rs774333332
|
0.00004
|
NM_001139.3(ALOX12B):c.1272dup (p.Lys425fs)
|
rs763328506
|
0.00004
|
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg)
|
rs74315438
|
0.00004
|
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)
|
rs72650700
|
0.00004
|
NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys)
|
rs72653786
|
0.00004
|
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys)
|
rs63749794
|
0.00004
|
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp)
|
rs28939701
|
0.00004
|
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)
|
rs63750428
|
0.00004
|
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs)
|
rs67791546
|
0.00004
|
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)
|
rs200090033
|
0.00004
|
NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter)
|
rs775072385
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)
|
rs760956030
|
0.00004
|
NM_001349232.2(ATG7):c.2080-2A>G
|
rs200074530
|
0.00004
|
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter)
|
rs772624348
|
0.00004
|
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)
|
rs387906312
|
0.00004
|
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter)
|
rs376091780
|
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_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)
|
rs563610095
|
0.00004
|
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter)
|
rs770296270
|
0.00004
|
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)
|
rs587777138
|
0.00004
|
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)
|
rs375113643
|
0.00004
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00004
|
NM_001386140.1(MTTP):c.1867+1G>A
|
rs764189338
|
0.00004
|
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)
|
rs146064714
|
0.00004
|
NM_001393500.2(TOMT):c.229G>A (p.Glu77Lys)
|
rs137853187
|
0.00004
|
NM_001395413.1(POR):c.723-2A>T
|
rs782343026
|
0.00004
|
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter)
|
rs145536062
|
0.00004
|
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)
|
rs137852667
|
0.00004
|
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)
|
rs201563456
|
0.00004
|
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter)
|
rs773242930
|
0.00004
|
NM_002693.3(POLG):c.1433+1G>A
|
rs771623994
|
0.00004
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_003052.5(SLC34A1):c.644+1G>A
|
rs201304511
|
0.00004
|
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter)
|
rs781939614
|
0.00004
|
NM_004004.6(GJB2):c.1A>G (p.Met1Val)
|
rs111033293
|
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_004393.6(DAG1):c.220G>A (p.Val74Ile)
|
rs189360006
|
0.00004
|
NM_004766.3(COPB2):c.760C>T (p.Arg254Cys)
|
rs1229568621
|
0.00004
|
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)
|
rs121908127
|
0.00004
|
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys)
|
rs113875421
|
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_004937.3(CTNS):c.635C>T (p.Ala212Val)
|
rs776658046
|
0.00004
|
NM_004937.3(CTNS):c.970+5G>A
|
rs753451110
|
0.00004
|
NM_005199.5(CHRNG):c.397del (p.Ser133fs)
|
rs780249576
|
0.00004
|
NM_006019.4(TCIRG1):c.2236+1G>A
|
rs1475338876
|
0.00004
|
NM_006118.4(HAX1):c.568C>T (p.Gln190Ter)
|
rs74315322
|
0.00004
|
NM_006383.4(CIB2):c.97C>T (p.Arg33Ter)
|
rs201845656
|
0.00004
|
NM_006793.5(PRDX3):c.43C>T (p.Arg15Ter)
|
rs371560438
|
0.00004
|
NM_006846.4(SPINK5):c.2260A>T (p.Lys754Ter)
|
rs750789505
|
0.00004
|
NM_006846.4(SPINK5):c.389_392dup (p.Leu132fs)
|
rs756874525
|
0.00004
|
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)
|
rs752941297
|
0.00004
|
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr)
|
rs139751598
|
0.00004
|
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp)
|
rs786203983
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_014780.5(CUL7):c.2164C>T (p.Arg722Ter)
|
rs886042376
|
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.3055C>T (p.Gln1019Ter)
|
rs746453731
|
0.00004
|
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)
|
rs149195472
|
0.00004
|
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)
|
rs370210428
|
0.00004
|
NM_015102.5(NPHP4):c.3010dup (p.Thr1004fs)
|
rs748950922
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)
|
rs121918197
|
0.00004
|
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)
|
rs149614625
|
0.00004
|
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)
|
rs1270302810
|
0.00004
|
NM_016239.4(MYO15A):c.5977C>T (p.Arg1993Trp)
|
rs759663463
|
0.00004
|
NM_016373.4(WWOX):c.173-6T>G
|
rs200812468
|
0.00004
|
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
|
rs28940869
|
0.00004
|
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)
|
rs267606960
|
0.00004
|
NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter)
|
rs147431446
|
0.00004
|
NM_018131.5(CEP55):c.993+3A>C
|
rs572584581
|
0.00004
|
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter)
|
rs140602858
|
0.00004
|
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter)
|
rs199910503
|
0.00004
|
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)
|
rs199422185
|
0.00004
|
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter)
|
rs587783295
|
0.00004
|
NM_018249.6(CDK5RAP2):c.4672C>T (p.Arg1558Ter)
|
rs373278668
|
0.00004
|
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs)
|
rs587783393
|
0.00004
|
NM_018451.5(CENPJ):c.289dup (p.Thr97fs)
|
rs759188041
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)
|
rs775622226
|
0.00004
|
NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp)
|
rs538389475
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_020366.4(RPGRIP1):c.1468-2A>G
|
rs751342895
|
0.00004
|
NM_020458.4(TTC7A):c.1784_1787del (p.Glu595fs)
|
rs1300446486
|
0.00004
|
NM_020751.3(COG6):c.511C>T (p.Arg171Ter)
|
rs200177031
|
0.00004
|
NM_021628.3(ALOXE3):c.1031A>C (p.Gln344Pro)
|
rs142781546
|
0.00004
|
NM_021628.3(ALOXE3):c.397A>G (p.Arg133Gly)
|
rs373520842
|
0.00004
|
NM_021628.3(ALOXE3):c.680+1G>A
|
rs764781178
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_021942.6(TRAPPC11):c.2579del (p.Leu860fs)
|
rs1216637259
|
0.00004
|
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)
|
rs761714818
|
0.00004
|
NM_021971.4(GMPPB):c.953T>C (p.Val318Ala)
|
rs559784211
|
0.00004
|
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)
|
rs397517329
|
0.00004
|
NM_022773.4(LMF1):c.895C>T (p.Gln299Ter)
|
rs554054538
|
0.00004
|
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)
|
rs543163491
|
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_024580.6(EFL1):c.3284G>A (p.Arg1095Gln)
|
rs376095522
|
0.00004
|
NM_024580.6(EFL1):c.89A>G (p.His30Arg)
|
rs370108445
|
0.00004
|
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter)
|
rs748011724
|
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_024596.5(MCPH1):c.322-1G>C
|
rs201721894
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter)
|
rs771232897
|
0.00004
|
NM_024753.5(TTC21B):c.2209G>T (p.Glu737Ter)
|
rs748663904
|
0.00004
|
NM_024989.4(PGAP1):c.2042del (p.Leu681fs)
|
rs756609752
|
0.00004
|
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter)
|
rs377046630
|
0.00004
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)
|
rs772170760
|
0.00004
|
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)
|
rs370119681
|
0.00004
|
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter)
|
rs1294402003
|
0.00004
|
NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs)
|
rs1353172956
|
0.00004
|
NM_025132.4(WDR19):c.3565+1G>A
|
rs587777352
|
0.00004
|
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)
|
rs751290509
|
0.00004
|
NM_025132.4(WDR19):c.781dup (p.Thr261fs)
|
rs748656635
|
0.00004
|
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr)
|
rs372993798
|
0.00004
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
NM_031885.5(BBS2):c.534+1G>T
|
rs773862084
|
0.00004
|
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)
|
rs121909762
|
0.00004
|
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer)
|
rs751539473
|
0.00004
|
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter)
|
rs746384382
|
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_052989.3(IFT122):c.349+5G>A
|
rs376595844
|
0.00004
|
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)
|
rs121912952
|
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.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
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.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser)
|
rs587777133
|
0.00004
|
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)
|
rs137852924
|
0.00004
|
NM_152384.3(BBS5):c.143-1G>C
|
rs1054138918
|
0.00004
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
|
rs28940315
|
0.00004
|
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)
|
rs148670389
|
0.00004
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter)
|
rs150332116
|
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_176824.3(BBS7):c.601+3A>G
|
rs747555346
|
0.00004
|
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys)
|
rs387906847
|
0.00004
|
NM_182961.4(SYNE1):c.15918-12A>G
|
rs606231134
|
0.00004
|
NM_183065.4(TMEM107):c.*671G>A
|
rs886039784
|
0.00004
|
NM_183065.4(TMEM107):c.*688G>A
|
rs372721948
|
0.00004
|
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)
|
rs80356593
|
0.00004
|
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)
|
rs80356605
|
0.00004
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)
|
rs62636273
|
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.13274C>T (p.Thr4425Met)
|
rs201238640
|
0.00004
|
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
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.8682-9A>G
|
rs372347027
|
0.00004
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_206933.4(USH2A):c.9570+1G>A
|
rs760225886
|
0.00004
|
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs)
|
rs769926034
|
0.00004
|
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)
|
rs566415362
|
0.00004
|
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter)
|
rs368970223
|
0.00004
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
NR_003051.3(RMRP):n.64C>T
|
rs786204684
|
0.00004
|
NR_003051.4(RMRP):n.196dup
|
rs796065036
|
0.00004
|
NM_000019.4(ACAT1):c.1006-2A>C
|
rs145229472
|
0.00003
|
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)
|
rs747714452
|
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.98+1G>C
|
rs750293380
|
0.00003
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter)
|
rs863224960
|
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.650del (p.Arg217fs)
|
rs1561502158
|
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.1650G>A (p.Thr550=)
|
rs778647317
|
0.00003
|
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs)
|
rs780534566
|
0.00003
|
NM_000083.3(CLCN1):c.2596-1G>A
|
rs771721648
|
0.00003
|
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser)
|
rs765181341
|
0.00003
|
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)
|
rs150885084
|
0.00003
|
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)
|
rs121912824
|
0.00003
|
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)
|
rs756231749
|
0.00003
|
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val)
|
rs121434571
|
0.00003
|
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter)
|
rs121434570
|
0.00003
|
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)
|
rs376526037
|
0.00003
|
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)
|
rs1026438103
|
0.00003
|
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)
|
rs771781694
|
0.00003
|
NM_000165.5(GJA1):c.227G>A (p.Arg76His)
|
rs267606844
|
0.00003
|
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)
|
rs1200134985
|
0.00003
|
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser)
|
rs137852616
|
0.00003
|
NM_000254.3(MTR):c.1228G>C (p.Ala410Pro)
|
rs121913582
|
0.00003
|
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter)
|
rs138695265
|
0.00003
|
NM_000254.3(MTR):c.2971C>T (p.Arg991Ter)
|
rs536238004
|
0.00003
|
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)
|
rs750647872
|
0.00003
|
NM_000260.4(MYO7A):c.6439-2A>G
|
rs397516330
|
0.00003
|
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)
|
rs377515417
|
0.00003
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
NM_000277.3(PAH):c.1066T>C (p.Tyr356His)
|
rs62507320
|
0.00003
|
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
NM_000277.3(PAH):c.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.136G>A (p.Gly46Ser)
|
rs74603784
|
0.00003
|
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)
|
rs199475619
|
0.00003
|
NM_000277.3(PAH):c.168+5G>C
|
rs62507288
|
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.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
NM_000277.3(PAH):c.428A>T (p.Asp143Val)
|
rs199475572
|
0.00003
|
NM_000277.3(PAH):c.464G>A (p.Arg155His)
|
rs199475663
|
0.00003
|
NM_000277.3(PAH):c.516G>T (p.Gln172His)
|
rs192592111
|
0.00003
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
NM_000277.3(PAH):c.60+5G>T
|
rs62514895
|
0.00003
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
NM_000277.3(PAH):c.745C>T (p.Leu249Phe)
|
rs74503222
|
0.00003
|
NM_000277.3(PAH):c.890G>A (p.Arg297His)
|
rs62642939
|
0.00003
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)
|
rs62514958
|
0.00003
|
NM_000286.3(PEX12):c.126+1G>T
|
rs144259891
|
0.00003
|
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)
|
rs61752103
|
0.00003
|
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)
|
rs61752105
|
0.00003
|
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter)
|
rs781475201
|
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.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter)
|
rs121913554
|
0.00003
|
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)
|
rs121913551
|
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.545+1G>A
|
rs761619802
|
0.00003
|
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)
|
rs61751281
|
0.00003
|
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)
|
rs121917745
|
0.00003
|
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)
|
rs886042220
|
0.00003
|
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)
|
rs61752905
|
0.00003
|
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
|
rs80338958
|
0.00003
|
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)
|
rs771351747
|
0.00003
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)
|
rs61753256
|
0.00003
|
NM_000372.5(TYR):c.533G>A (p.Trp178Ter)
|
rs61754360
|
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_000391.4(TPP1):c.827A>T (p.Asp276Val)
|
rs763162812
|
0.00003
|
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)
|
rs41556519
|
0.00003
|
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)
|
rs398123373
|
0.00003
|
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)
|
rs201660407
|
0.00003
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)
|
rs121908363
|
0.00003
|
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)
|
rs757820624
|
0.00003
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)
|
rs61750427
|
0.00003
|
NM_000466.3(PEX1):c.721del (p.Ser241fs)
|
rs894289737
|
0.00003
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn)
|
rs556880586
|
0.00003
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)
|
rs121908805
|
0.00003
|
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter)
|
rs397508211
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln)
|
rs121909044
|
0.00003
|
NM_000492.4(CFTR):c.1680-886A>G
|
rs397508266
|
0.00003
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter)
|
rs79633941
|
0.00003
|
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)
|
rs193922511
|
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.3276C>A (p.Tyr1092Ter)
|
rs121908761
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000492.4(CFTR):c.653T>A (p.Leu218Ter)
|
rs397508777
|
0.00003
|
NM_000518.5(HBB):c.-151C>T
|
rs63751208
|
0.00003
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_000518.5(HBB):c.316-2A>G
|
rs33914668
|
0.00003
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
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_000760.4(CSF3R):c.1388G>A (p.Trp463Ter)
|
rs374536805
|
0.00003
|
NM_000784.4(CYP27A1):c.1263+1G>A
|
rs397515355
|
0.00003
|
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)
|
rs121908097
|
0.00003
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)
|
rs575064188
|
0.00003
|
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter)
|
rs118204031
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)
|
rs397514609
|
0.00003
|
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)
|
rs376555896
|
0.00003
|
NM_001077418.3(TMEM231):c.284del (p.Asp95fs)
|
rs750897443
|
0.00003
|
NM_001077418.3(TMEM231):c.438+1G>A
|
rs1415483600
|
0.00003
|
NM_001080476.3(GRXCR1):c.628-9C>A
|
rs606231120
|
0.00003
|
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter)
|
rs370627877
|
0.00003
|
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)
|
rs200916654
|
0.00003
|
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)
|
rs727503911
|
0.00003
|
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs)
|
rs778065845
|
0.00003
|
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)
|
rs141497053
|
0.00003
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)
|
rs372659908
|
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_001139.3(ALOX12B):c.1829C>T (p.Thr610Ile)
|
rs773052129
|
0.00003
|
NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter)
|
rs371100799
|
0.00003
|
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter)
|
rs267607137
|
0.00003
|
NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr)
|
rs387906978
|
0.00003
|
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln)
|
rs772434460
|
0.00003
|
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg)
|
rs72653787
|
0.00003
|
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln)
|
rs72653794
|
0.00003
|
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His)
|
rs63751001
|
0.00003
|
NM_001171.6(ABCC6):c.3735G>T (p.Glu1245Asp)
|
rs281865557
|
0.00003
|
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)
|
rs63749856
|
0.00003
|
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His)
|
rs63750622
|
0.00003
|
NM_001171.6(ABCC6):c.4104del (p.Asp1368fs)
|
rs72664237
|
0.00003
|
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)
|
rs755459875
|
0.00003
|
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter)
|
rs267606718
|
0.00003
|
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)
|
rs398122965
|
0.00003
|
NM_001199563.2(BVES):c.1A>G (p.Met1Val)
|
rs1332603843
|
0.00003
|
NM_001242882.2(NAXD):c.948_949insTT (p.Ala317fs)
|
rs778824382
|
0.00003
|
NM_001256317.3(TMPRSS3):c.647G>T (p.Arg216Leu)
|
rs137853000
|
0.00003
|
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)
|
rs886042995
|
0.00003
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
NM_001267550.2(TTN):c.49648+2del
|
rs727504851
|
0.00003
|
NM_001267550.2(TTN):c.89197+1G>C
|
rs1131691873
|
0.00003
|
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter)
|
rs757836789
|
0.00003
|
NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn)
|
rs199566950
|
0.00003
|
NM_001271838.2(RSRC1):c.205C>T (p.Arg69Ter)
|
rs868818936
|
0.00003
|
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)
|
rs398123018
|
0.00003
|
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)
|
rs398123017
|
0.00003
|
NM_001283009.2(RTEL1):c.396-26C>T
|
rs80224512
|
0.00003
|
NM_001304438.2(TMEM132E):c.1529G>A (p.Arg510Gln)
|
rs139895222
|
0.00003
|
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs)
|
rs1307758243
|
0.00003
|
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=)
|
rs780520735
|
0.00003
|
NM_001349232.2(ATG7):c.1727G>A (p.Arg576His)
|
rs142493104
|
0.00003
|
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter)
|
rs61752137
|
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_001378609.3(OTOGL):c.1457del (p.Val486fs)
|
rs1233562246
|
0.00003
|
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter)
|
rs572666403
|
0.00003
|
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter)
|
rs768620276
|
0.00003
|
NM_001378609.3(OTOGL):c.574C>T (p.Arg192Ter)
|
rs397514588
|
0.00003
|
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)
|
rs386833752
|
0.00003
|
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter)
|
rs529437224
|
0.00003
|
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)
|
rs188119157
|
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_001814.6(CTSC):c.815G>A (p.Arg272His)
|
rs587777534
|
0.00003
|
NM_002161.6(IARS1):c.213T>G (p.Tyr71Ter)
|
rs765771535
|
0.00003
|
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)
|
rs200089714
|
0.00003
|
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)
|
rs780594709
|
0.00003
|
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)
|
rs61752092
|
0.00003
|
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)
|
rs724160001
|
0.00003
|
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)
|
rs121918053
|
0.00003
|
NM_002857.4(PEX19):c.763dup (p.Met255fs)
|
rs267608186
|
0.00003
|
NM_003104.6(SORD):c.328C>T (p.Arg110Ter)
|
rs745509632
|
0.00003
|
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)
|
rs773968778
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_003672.4(CDC14A):c.376del (p.Tyr126fs)
|
rs759201338
|
0.00003
|
NM_003805.5(CRADD):c.491T>G (p.Phe164Cys)
|
rs370916968
|
0.00003
|
NM_003846.3(PEX11B):c.766C>T (p.Arg256Ter)
|
rs782188850
|
0.00003
|
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
|
rs111033297
|
0.00003
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
0.00003
|
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)
|
rs28931592
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)
|
rs998045226
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_004086.3(COCH):c.292C>T (p.Arg98Ter)
|
rs756790858
|
0.00003
|
NM_004526.4(MCM2):c.130C>T (p.Arg44Cys)
|
rs375851208
|
0.00003
|
NM_004539.4(NARS1):c.50C>T (p.Thr17Met)
|
rs148893823
|
0.00003
|
NM_005548.3(KARS1):c.433T>C (p.Tyr145His)
|
rs397514745
|
0.00003
|
NM_005687.5(FARSB):c.767C>T (p.Thr256Met)
|
rs753710639
|
0.00003
|
NM_005866.4(SIGMAR1):c.86G>A (p.Trp29Ter)
|
rs1449250083
|
0.00003
|
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)
|
rs143064649
|
0.00003
|
NM_006019.4(TCIRG1):c.1554+2T>A
|
rs761918801
|
0.00003
|
NM_006297.3(XRCC1):c.1293G>C (p.Lys431Asn)
|
rs761564262
|
0.00003
|
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)
|
rs397515411
|
0.00003
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter)
|
rs373463881
|
0.00003
|
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter)
|
rs777436361
|
0.00003
|
NM_006846.4(SPINK5):c.2989C>T (p.Arg997Ter)
|
rs192473445
|
0.00003
|
NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln)
|
rs121909341
|
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_012478.4(WBP2):c.478G>A (p.Ala160Thr)
|
rs202022024
|
0.00003
|
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter)
|
rs770582052
|
0.00003
|
NM_013382.7(POMT2):c.1006+1G>A
|
rs533916138
|
0.00003
|
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)
|
rs267606971
|
0.00003
|
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter)
|
rs538343832
|
0.00003
|
NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp)
|
rs267606820
|
0.00003
|
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
|
rs267606821
|
0.00003
|
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs)
|
rs724159996
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_014797.3(ZBTB24):c.958C>T (p.Arg320Ter)
|
rs387907104
|
0.00003
|
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)
|
rs121434379
|
0.00003
|
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)
|
rs137852923
|
0.00003
|
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg)
|
rs373962831
|
0.00003
|
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)
|
rs758275952
|
0.00003
|
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg)
|
rs748436953
|
0.00003
|
NM_015665.6(AAAS):c.1191dup (p.Glu398fs)
|
rs746305979
|
0.00003
|
NM_015665.6(AAAS):c.1331+1G>A
|
rs150511103
|
0.00003
|
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
NM_016138.5(COQ7):c.446A>G (p.Tyr149Cys)
|
rs760710474
|
0.00003
|
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)
|
rs761399728
|
0.00003
|
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs)
|
rs1382373816
|
0.00003
|
NM_016239.4(MYO15A):c.1223C>T (p.Ala408Val)
|
rs191710555
|
0.00003
|
NM_016239.4(MYO15A):c.3756+1G>T
|
rs748108031
|
0.00003
|
NM_016356.5(DCDC2):c.349-2A>G
|
rs760040426
|
0.00003
|
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter)
|
rs587777248
|
0.00003
|
NM_016614.3(TDP2):c.425+1G>A
|
rs372245668
|
0.00003
|
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser)
|
rs1028163227
|
0.00003
|
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln)
|
rs773173317
|
0.00003
|
NM_017807.4(OSGEP):c.974G>A (p.Arg325Gln)
|
rs753237335
|
0.00003
|
NM_018075.5(ANO10):c.1529T>G (p.Leu510Arg)
|
rs387907089
|
0.00003
|
NM_018075.5(ANO10):c.337+1G>A
|
rs765592794
|
0.00003
|
NM_018136.5(ASPM):c.4422G>A (p.Trp1474Ter)
|
rs147622433
|
0.00003
|
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter)
|
rs368115694
|
0.00003
|
NM_018255.4(ELP2):c.1657C>T (p.Gln553Ter)
|
rs1400164869
|
0.00003
|
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter)
|
rs781848162
|
0.00003
|
NM_018972.4(GDAP1):c.501del (p.Glu168fs)
|
rs886041386
|
0.00003
|
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter)
|
rs150989205
|
0.00003
|
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)
|
rs375431837
|
0.00003
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
NM_020458.4(TTC7A):c.1204-2A>G
|
rs876657392
|
0.00003
|
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys)
|
rs147914967
|
0.00003
|
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)
|
rs772217003
|
0.00003
|
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter)
|
rs193922703
|
0.00003
|
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter)
|
rs535912271
|
0.00003
|
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter)
|
rs1292534396
|
0.00003
|
NM_020779.4(WDR35):c.25-2A>G
|
rs397515534
|
0.00003
|
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys)
|
rs541910371
|
0.00003
|
NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter)
|
rs756503608
|
0.00003
|
NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter)
|
rs140403642
|
0.00003
|
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile)
|
rs202013297
|
0.00003
|
NM_021971.4(GMPPB):c.760G>A (p.Val254Met)
|
rs875989850
|
0.00003
|
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter)
|
rs773246271
|
0.00003
|
NM_022095.4(ZNF335):c.1505A>G (p.Tyr502Cys)
|
rs753888773
|
0.00003
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00003
|
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)
|
rs376048533
|
0.00003
|
NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)
|
rs74315319
|
0.00003
|
NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu)
|
rs387906961
|
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.1231C>T (p.Arg411Ter)
|
rs185089786
|
0.00003
|
NM_024753.5(TTC21B):c.2758-2A>G
|
rs766132877
|
0.00003
|
NM_025074.7(FRAS1):c.11298+1G>A
|
rs371268544
|
0.00003
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)
|
rs575767207
|
0.00003
|
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter)
|
rs751361090
|
0.00003
|
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)
|
rs375548374
|
0.00003
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
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.2864C>A (p.Ser955Ter)
|
rs746618021
|
0.00003
|
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)
|
rs587777727
|
0.00003
|
NM_032808.7(LINGO1):c.869G>A (p.Arg290His)
|
rs757077698
|
0.00003
|
NM_033028.5(BBS4):c.626G>A (p.Gly209Glu)
|
rs372822977
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_033629.6(TREX1):c.290G>A (p.Arg97His)
|
rs200773268
|
0.00003
|
NM_033629.6(TREX1):c.500del (p.Ser167fs)
|
rs76642637
|
0.00003
|
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)
|
rs267607192
|
0.00003
|
NM_138387.4(G6PC3):c.207dup (p.Ile70fs)
|
rs1191239079
|
0.00003
|
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter)
|
rs745582203
|
0.00003
|
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs)
|
rs748931188
|
0.00003
|
NM_138691.3(TMC1):c.236+1G>A
|
rs775428246
|
0.00003
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)
|
rs770461067
|
0.00003
|
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)
|
rs137852948
|
0.00003
|
NM_138694.4(PKHD1):c.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.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
NM_138694.4(PKHD1):c.9338del (p.Ser3113fs)
|
rs1388716999
|
0.00003
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)
|
rs374913800
|
0.00003
|
NM_144772.3(NAXE):c.196C>T (p.Gln66Ter)
|
rs759251812
|
0.00003
|
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter)
|
rs965707319
|
0.00003
|
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter)
|
rs748820015
|
0.00003
|
NM_147127.5(EVC2):c.3659+2T>C
|
rs200300612
|
0.00003
|
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)
|
rs761231974
|
0.00003
|
NM_152443.3(RDH12):c.146C>T (p.Thr49Met)
|
rs28940314
|
0.00003
|
NM_152443.3(RDH12):c.698T>A (p.Val233Asp)
|
rs144148976
|
0.00003
|
NM_152618.3(BBS12):c.1092del (p.Glu365fs)
|
rs770218590
|
0.00003
|
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter)
|
rs182135982
|
0.00003
|
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)
|
rs747025617
|
0.00003
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
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_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)
|
rs201128942
|
0.00003
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
NM_173543.3(DZIP1L):c.269C>T (p.Ala90Val)
|
rs555349004
|
0.00003
|
NM_173551.5(ANKS6):c.1973-3C>G
|
rs397514257
|
0.00003
|
NM_176824.3(BBS7):c.1654dup (p.Thr552fs)
|
rs773052355
|
0.00003
|
NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys)
|
rs104893975
|
0.00003
|
NM_183065.4(TMEM107):c.*674_*675insT
|
rs757706428
|
0.00003
|
NM_194248.3(OTOF):c.4799+1G>A
|
rs200147906
|
0.00003
|
NM_194292.3(SASS6):c.127-13A>G
|
rs1406541512
|
0.00003
|
NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln)
|
rs201326023
|
0.00003
|
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)
|
rs137852856
|
0.00003
|
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter)
|
rs769256027
|
0.00003
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)
|
rs375040930
|
0.00003
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
|
rs62636275
|
0.00003
|
NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr)
|
rs786205519
|
0.00003
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter)
|
rs749702843
|
0.00003
|
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)
|
rs777465132
|
0.00003
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
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.6862G>T (p.Glu2288Ter)
|
rs398124619
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_206933.4(USH2A):c.8559-2A>G
|
rs397518039
|
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.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp)
|
rs114837786
|
0.00003
|
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys)
|
rs137854527
|
0.00003
|
NM_213599.3(ANO5):c.2176dup (p.Ser726fs)
|
rs797044667
|
0.00003
|
NM_213599.3(ANO5):c.762+1G>A
|
rs372221490
|
0.00003
|
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)
|
rs373771053
|
0.00002
|
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
|
rs120074141
|
0.00002
|
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)
|
rs532190594
|
0.00002
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000023.4(SGCA):c.197T>A (p.Leu66His)
|
rs767928766
|
0.00002
|
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)
|
rs367543028
|
0.00002
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter)
|
rs587783037
|
0.00002
|
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)
|
rs587779888
|
0.00002
|
NM_000057.4(BLM):c.670C>T (p.Gln224Ter)
|
rs918752814
|
0.00002
|
NM_000070.3(CAPN3):c.1800+2T>C
|
rs748194118
|
0.00002
|
NM_000070.3(CAPN3):c.1801-1G>A
|
rs886043752
|
0.00002
|
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)
|
rs768090444
|
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_000070.3(CAPN3):c.566T>C (p.Leu189Pro)
|
rs758795961
|
0.00002
|
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys)
|
rs546411827
|
0.00002
|
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)
|
rs762754992
|
0.00002
|
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn)
|
rs80356697
|
0.00002
|
NM_000083.3(CLCN1):c.1872del (p.Glu624fs)
|
rs1424799320
|
0.00002
|
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter)
|
rs772150974
|
0.00002
|
NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter)
|
rs561470261
|
0.00002
|
NM_000083.3(CLCN1):c.774+1G>A
|
rs776073429
|
0.00002
|
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)
|
rs80356687
|
0.00002
|
NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg)
|
rs757109632
|
0.00002
|
NM_000083.3(CLCN1):c.830dup (p.Cys277fs)
|
rs140026363
|
0.00002
|
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)
|
rs764100025
|
0.00002
|
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)
|
rs774396430
|
0.00002
|
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)
|
rs1346138010
|
0.00002
|
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu)
|
rs1026613471
|
0.00002
|
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg)
|
rs201859109
|
0.00002
|
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg)
|
rs937550597
|
0.00002
|
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg)
|
rs755961411
|
0.00002
|
NM_000124.4(ERCC6):c.2287-2A>G
|
rs754978734
|
0.00002
|
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)
|
rs772801089
|
0.00002
|
NM_000124.4(ERCC6):c.4063-1G>C
|
rs766980240
|
0.00002
|
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)
|
rs751838040
|
0.00002
|
NM_000163.5(GHR):c.594A>G (p.Glu198=)
|
rs121909360
|
0.00002
|
NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter)
|
rs769818541
|
0.00002
|
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)
|
rs756730335
|
0.00002
|
NM_000208.4(INSR):c.707A>G (p.His236Arg)
|
rs121913145
|
0.00002
|
NM_000211.5(ITGB2):c.2070del (p.Asp690fs)
|
rs1466186480
|
0.00002
|
NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu)
|
rs137852614
|
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.551A>G (p.Tyr184Cys)
|
rs1365923535
|
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.5392C>T (p.Gln1798Ter)
|
rs397516317
|
0.00002
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180
|
0.00002
|
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)
|
rs111033192
|
0.00002
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)
|
rs121965080
|
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.1301C>T (p.Pro434Leu)
|
rs774333145
|
0.00002
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu)
|
rs372445155
|
0.00002
|
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)
|
rs202140203
|
0.00002
|
NM_000271.5(NPC1):c.2777C>T (p.Ala926Val)
|
rs730880963
|
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.3451G>A (p.Ala1151Thr)
|
rs765729815
|
0.00002
|
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser)
|
rs28942105
|
0.00002
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
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.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.508C>G (p.His170Asp)
|
rs199475655
|
0.00002
|
NM_000277.3(PAH):c.558_559del (p.Trp187fs)
|
rs62517207
|
0.00002
|
NM_000277.3(PAH):c.581T>C (p.Leu194Pro)
|
rs5030844
|
0.00002
|
NM_000277.3(PAH):c.806del (p.Ile269fs)
|
rs62508687
|
0.00002
|
NM_000277.3(PAH):c.809G>A (p.Arg270Lys)
|
rs62514950
|
0.00002
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
NM_000287.4(PEX6):c.1962-1G>A
|
rs267608229
|
0.00002
|
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)
|
rs267608241
|
0.00002
|
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
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.1087C>A (p.Pro363Thr)
|
rs121917744
|
0.00002
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)
|
rs1420672586
|
0.00002
|
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)
|
rs62637004
|
0.00002
|
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)
|
rs62642584
|
0.00002
|
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)
|
rs61752896
|
0.00002
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)
|
rs377176361
|
0.00002
|
NM_000336.3(SCNN1B):c.1542+1G>A
|
rs550424284
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
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_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.1037-2A>G
|
rs748901196
|
0.00002
|
NM_000372.5(TYR):c.132T>A (p.Ser44Arg)
|
rs755700581
|
0.00002
|
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)
|
rs28940877
|
0.00002
|
NM_000372.5(TYR):c.646T>A (p.Leu216Met)
|
rs61754363
|
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.683G>A (p.Arg228His)
|
rs866392702
|
0.00002
|
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)
|
rs72547568
|
0.00002
|
NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter)
|
rs199643821
|
0.00002
|
NM_000400.4(ERCC2):c.1479+2dup
|
rs776705174
|
0.00002
|
NM_000400.4(ERCC2):c.2005del (p.Arg669fs)
|
rs1233791234
|
0.00002
|
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)
|
rs773305477
|
0.00002
|
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs)
|
rs886041297
|
0.00002
|
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)
|
rs758775001
|
0.00002
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
NM_000441.2(SLC26A4):c.1149+3A>G
|
rs111033314
|
0.00002
|
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)
|
rs147952620
|
0.00002
|
NM_000441.2(SLC26A4):c.1341+1G>C
|
rs376653349
|
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.1920G>A (p.Trp640Ter)
|
rs368119540
|
0.00002
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
NM_000441.2(SLC26A4):c.55del (p.Ser19fs)
|
rs1057516634
|
0.00002
|
NM_000466.3(PEX1):c.1239+1G>T
|
rs756876301
|
0.00002
|
NM_000466.3(PEX1):c.130-1G>T
|
rs1028247729
|
0.00002
|
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)
|
rs398123408
|
0.00002
|
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter)
|
rs61750417
|
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.1405A>G (p.Met469Val)
|
rs397508203
|
0.00002
|
NM_000492.4(CFTR):c.165-3C>T
|
rs200337193
|
0.00002
|
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)
|
rs80055610
|
0.00002
|
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)
|
rs121909047
|
0.00002
|
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)
|
rs397508270
|
0.00002
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)
|
rs77284892
|
0.00002
|
NM_000492.4(CFTR):c.1A>G (p.Met1Val)
|
rs397508328
|
0.00002
|
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter)
|
rs397508387
|
0.00002
|
NM_000492.4(CFTR):c.274-1G>A
|
rs121908792
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)
|
rs78802634
|
0.00002
|
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)
|
rs36210737
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000492.4(CFTR):c.490-1G>A
|
rs397508734
|
0.00002
|
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)
|
rs80282562
|
0.00002
|
NM_000492.4(CFTR):c.579+3A>G
|
rs397508761
|
0.00002
|
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)
|
rs79031340
|
0.00002
|
NM_000518.4(HBB):c.332T>C (p.Leu111Pro)
|
rs35256489
|
0.00002
|
NM_000518.5(HBB):c.20del (p.Glu7fs)
|
rs63749819
|
0.00002
|
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)
|
rs33986703
|
0.00002
|
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)
|
rs35424040
|
0.00002
|
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)
|
rs201550531
|
0.00002
|
NM_000543.5(SMPD1):c.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_000543.5(SMPD1):c.847G>A (p.Ala283Thr)
|
rs752148586
|
0.00002
|
NM_000553.6(WRN):c.1578del (p.Leu528fs)
|
rs780555196
|
0.00002
|
NM_000553.6(WRN):c.210-1G>A
|
rs758988621
|
0.00002
|
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter)
|
rs774765029
|
0.00002
|
NM_000553.6(WRN):c.329dup (p.Tyr110Ter)
|
rs766733097
|
0.00002
|
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter)
|
rs121908446
|
0.00002
|
NM_000553.6(WRN):c.896dup (p.Ile300fs)
|
rs757968518
|
0.00002
|
NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter)
|
rs988715134
|
0.00002
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter)
|
rs72551319
|
0.00002
|
NM_001031679.3(MSRB3):c.55C>T (p.Arg19Ter)
|
rs149258390
|
0.00002
|
NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter)
|
rs118204029
|
0.00002
|
NM_001042702.5(PJVK):c.671T>G (p.Leu224Arg)
|
rs370457498
|
0.00002
|
NM_001044385.3(TMEM237):c.553+1G>A
|
rs80034299
|
0.00002
|
NM_001044385.3(TMEM237):c.943+1G>T
|
rs748510210
|
0.00002
|
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)
|
rs762307622
|
0.00002
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001048174.2(MUTYH):c.49del (p.Ala17fs)
|
rs587781704
|
0.00002
|
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
|
rs34126013
|
0.00002
|
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)
|
rs200495564
|
0.00002
|
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)
|
rs587782885
|
0.00002
|
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)
|
rs786203115
|
0.00002
|
NM_001077365.2(POMT1):c.1196del (p.Leu399fs)
|
rs768144522
|
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_001077365.2(POMT1):c.193G>A (p.Gly65Arg)
|
rs119462983
|
0.00002
|
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)
|
rs746696167
|
0.00002
|
NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr)
|
rs1197109885
|
0.00002
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)
|
rs144484373
|
0.00002
|
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)
|
rs566060177
|
0.00002
|
NM_001083961.2(WDR62):c.1521G>A (p.Leu507=)
|
rs778207666
|
0.00002
|
NM_001083961.2(WDR62):c.1941C>A (p.Cys647Ter)
|
rs769688376
|
0.00002
|
NM_001083961.2(WDR62):c.3514+1G>A
|
rs199736219
|
0.00002
|
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter)
|
rs199775294
|
0.00002
|
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)
|
rs547352656
|
0.00002
|
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)
|
rs765263671
|
0.00002
|
NM_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.1380+2T>C
|
rs398123765
|
0.00002
|
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter)
|
rs199543257
|
0.00002
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
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.2247dup (p.Leu750fs)
|
rs1445681647
|
0.00002
|
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)
|
rs863225138
|
0.00002
|
NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp)
|
rs559401066
|
0.00002
|
NM_001171.6(ABCC6):c.2248-2_2248-1del
|
rs111113624
|
0.00002
|
NM_001171.6(ABCC6):c.2419C>T (p.Arg807Trp)
|
rs72653793
|
0.00002
|
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met)
|
rs72653795
|
0.00002
|
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln)
|
rs63750457
|
0.00002
|
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys)
|
rs63751215
|
0.00002
|
NM_001171.6(ABCC6):c.3907G>C (p.Ala1303Pro)
|
rs63750410
|
0.00002
|
NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter)
|
rs66913554
|
0.00002
|
NM_001171.6(ABCC6):c.951C>A (p.Ser317Arg)
|
rs78678589
|
0.00002
|
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys)
|
rs1057519629
|
0.00002
|
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)
|
rs564477999
|
0.00002
|
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)
|
rs267607105
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
|
rs747538224
|
0.00002
|
NM_001205254.2(OCLN):c.1037+1G>A
|
rs748442113
|
0.00002
|
NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter)
|
rs373915080
|
0.00002
|
NM_001256317.3(TMPRSS3):c.646C>T (p.Arg216Cys)
|
rs145913750
|
0.00002
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr)
|
rs771054395
|
0.00002
|
NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg)
|
rs764523283
|
0.00002
|
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg)
|
rs587777037
|
0.00002
|
NM_001292063.2(OTOG):c.7417C>T (p.Arg2473Ter)
|
rs866476223
|
0.00002
|
NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter)
|
rs1064793157
|
0.00002
|
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=)
|
rs540255320
|
0.00002
|
NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter)
|
rs373763986
|
0.00002
|
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter)
|
rs776003330
|
0.00002
|
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)
|
rs770566897
|
0.00002
|
NM_001353108.3(CEP63):c.1068-1G>A
|
rs752207334
|
0.00002
|
NM_001374623.1(PNPLA1):c.514G>A (p.Asp172Asn)
|
rs373148099
|
0.00002
|
NM_001377.3(DYNC2H1):c.10042+2T>G
|
rs1261505725
|
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_001378454.1(ALMS1):c.4153dup (p.Thr1385fs)
|
rs797045228
|
0.00002
|
NM_001378454.1(ALMS1):c.8044G>T (p.Glu2682Ter)
|
rs779187578
|
0.00002
|
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter)
|
rs193919340
|
0.00002
|
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr)
|
rs760918829
|
0.00002
|
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)
|
rs1022325907
|
0.00002
|
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)
|
rs779823379
|
0.00002
|
NM_001382391.1(CSPP1):c.1976-2A>G
|
rs1320076769
|
0.00002
|
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter)
|
rs771203308
|
0.00002
|
NM_001382391.1(CSPP1):c.430_431del (p.Arg144fs)
|
rs750696284
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_001384474.1(LOXHD1):c.4212+1G>A
|
rs889110926
|
0.00002
|
NM_001384474.1(LOXHD1):c.757C>T (p.Gln253Ter)
|
rs909435840
|
0.00002
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
NM_001393500.2(TOMT):c.259+4A>C
|
rs545947177
|
0.00002
|
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)
|
rs121912976
|
0.00002
|
NM_001510.4(GRID2):c.2128C>T (p.Arg710Trp)
|
rs750331613
|
0.00002
|
NM_001692.4(ATP6V1B1):c.585+1G>A
|
rs782723581
|
0.00002
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)
|
rs770111639
|
0.00002
|
NM_002180.3(IGHMBP2):c.2784+1G>T
|
rs797044803
|
0.00002
|
NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys)
|
rs139497493
|
0.00002
|
NM_002292.4(LAMB2):c.1477del (p.Cys493fs)
|
rs969481454
|
0.00002
|
NM_002292.4(LAMB2):c.3595C>T (p.Arg1199Ter)
|
rs754597019
|
0.00002
|
NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter)
|
rs777997657
|
0.00002
|
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter)
|
rs375908206
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_002617.4(PEX10):c.1A>G (p.Met1Val)
|
rs886041314
|
0.00002
|
NM_002617.4(PEX10):c.600+1G>A
|
rs267608183
|
0.00002
|
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter)
|
rs553968959
|
0.00002
|
NM_002635.4(SLC25A3):c.158-303A>G
|
rs745305932
|
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.1124G>A (p.Trp375Ter)
|
rs184887106
|
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_003896.4(ST3GAL5):c.282del (p.Met94fs)
|
rs1383734078
|
0.00002
|
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter)
|
rs104893668
|
0.00002
|
NM_003937.3(KYNU):c.616G>A (p.Glu206Lys)
|
rs765122670
|
0.00002
|
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)
|
rs786204491
|
0.00002
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln)
|
rs387906828
|
0.00002
|
NM_004407.4(DMP1):c.55-1G>C
|
rs587776697
|
0.00002
|
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter)
|
rs747737475
|
0.00002
|
NM_004830.4(MED23):c.2832dup (p.Val945fs)
|
rs771485728
|
0.00002
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)
|
rs727503326
|
0.00002
|
NM_005548.3(KARS1):c.1430G>A (p.Arg477His)
|
rs778748895
|
0.00002
|
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter)
|
rs772357412
|
0.00002
|
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)
|
rs1443751733
|
0.00002
|
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln)
|
rs121912618
|
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_006118.4(HAX1):c.256C>T (p.Arg86Ter)
|
rs121908165
|
0.00002
|
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)
|
rs75718910
|
0.00002
|
NM_006736.6(DNAJB2):c.352+1G>A
|
rs756614404
|
0.00002
|
NM_006736.6(DNAJB2):c.620-1G>A
|
rs764813110
|
0.00002
|
NM_006846.4(SPINK5):c.1302+4A>T
|
rs201269335
|
0.00002
|
NM_006846.4(SPINK5):c.1888-1G>A
|
rs759255682
|
0.00002
|
NM_006846.4(SPINK5):c.2758C>T (p.Arg920Ter)
|
rs776293648
|
0.00002
|
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter)
|
rs766978225
|
0.00002
|
NM_006846.4(SPINK5):c.374del (p.Thr125fs)
|
rs1419297868
|
0.00002
|
NM_006846.4(SPINK5):c.649C>T (p.Arg217Ter)
|
rs367958902
|
0.00002
|
NM_006846.4(SPINK5):c.81+2T>A
|
rs1131691490
|
0.00002
|
NM_006892.4(DNMT3B):c.2177T>G (p.Val726Gly)
|
rs121908941
|
0.00002
|
NM_006907.4(PYCR1):c.540+1G>A
|
rs752297179
|
0.00002
|
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter)
|
rs752104654
|
0.00002
|
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)
|
rs121434447
|
0.00002
|
NM_012233.3(RAB3GAP1):c.899+1G>A
|
rs587777152
|
0.00002
|
NM_014026.6(DCPS):c.636+1G>A
|
rs770528538
|
0.00002
|
NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter)
|
rs200125117
|
0.00002
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
NM_014780.5(CUL7):c.4333C>T (p.Arg1445Ter)
|
rs121918228
|
0.00002
|
NM_014797.3(ZBTB24):c.1222T>G (p.Cys408Gly)
|
rs387907105
|
0.00002
|
NM_014797.3(ZBTB24):c.47C>G (p.Ser16Ter)
|
rs370370334
|
0.00002
|
NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter)
|
rs145646425
|
0.00002
|
NM_014956.5(CEP164):c.2020C>T (p.Arg674Ter)
|
rs963142616
|
0.00002
|
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)
|
rs764893412
|
0.00002
|
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter)
|
rs780849567
|
0.00002
|
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter)
|
rs553512431
|
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.3272del (p.Val1091fs)
|
rs1278089386
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
|
rs121918204
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)
|
rs778533826
|
0.00002
|
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter)
|
rs1057518717
|
0.00002
|
NM_015340.4(LARS2):c.1556C>T (p.Thr519Met)
|
rs141097216
|
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_015702.3(MMADHC):c.419dup (p.Tyr140Ter)
|
rs397509363
|
0.00002
|
NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter)
|
rs1431992617
|
0.00002
|
NM_016038.4(SBDS):c.258+1G>C
|
rs113993992
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)
|
rs748868741
|
0.00002
|
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys)
|
rs878854411
|
0.00002
|
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)
|
rs201067821
|
0.00002
|
NM_016239.4(MYO15A):c.9572G>A (p.Arg3191His)
|
rs373520843
|
0.00002
|
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)
|
rs756762196
|
0.00002
|
NM_017613.4(DONSON):c.1634C>T (p.Pro545Leu)
|
rs774616573
|
0.00002
|
NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys)
|
rs367904759
|
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_018136.5(ASPM):c.1671_1672del (p.Ser557fs)
|
rs587783220
|
0.00002
|
NM_018136.5(ASPM):c.2419+2T>C
|
rs587783225
|
0.00002
|
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)
|
rs587783227
|
0.00002
|
NM_018136.5(ASPM):c.349C>T (p.Arg117Ter)
|
rs137852996
|
0.00002
|
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp)
|
rs767713084
|
0.00002
|
NM_018319.4(TDP1):c.1478A>G (p.His493Arg)
|
rs119467003
|
0.00002
|
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys)
|
rs761027478
|
0.00002
|
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys)
|
rs387907111
|
0.00002
|
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
|
rs782371437
|
0.00002
|
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter)
|
rs104894002
|
0.00002
|
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
|
rs104894075
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met)
|
rs397515456
|
0.00002
|
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)
|
rs763982675
|
0.00002
|
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter)
|
rs754517968
|
0.00002
|
NM_020632.3(ATP6V0A4):c.816+1G>A
|
rs1450564765
|
0.00002
|
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)
|
rs1260264247
|
0.00002
|
NM_020779.4(WDR35):c.136C>T (p.Gln46Ter)
|
rs767788330
|
0.00002
|
NM_020779.4(WDR35):c.1694_1695dup (p.Thr566Ter)
|
rs766096320
|
0.00002
|
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=)
|
rs746128772
|
0.00002
|
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)
|
rs201757275
|
0.00002
|
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter)
|
rs587776942
|
0.00002
|
NM_021828.5(HPSE2):c.1414C>T (p.Arg472Ter)
|
rs267606864
|
0.00002
|
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu)
|
rs778251205
|
0.00002
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965
|
0.00002
|
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)
|
rs750880909
|
0.00002
|
NM_022124.6(CDH23):c.6337C>T (p.Gln2113Ter)
|
rs771210121
|
0.00002
|
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe)
|
rs763721044
|
0.00002
|
NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser)
|
rs747806672
|
0.00002
|
NM_022336.4(EDAR):c.903C>A (p.Cys301Ter)
|
rs199544410
|
0.00002
|
NM_022361.5(POPDC3):c.782G>A (p.Arg261Gln)
|
rs1437210856
|
0.00002
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)
|
rs770711331
|
0.00002
|
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)
|
rs760345680
|
0.00002
|
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)
|
rs372632599
|
0.00002
|
NM_024580.6(EFL1):c.3205A>G (p.Thr1069Ala)
|
rs756494164
|
0.00002
|
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)
|
rs183771956
|
0.00002
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
0.00002
|
NM_024685.4(BBS10):c.1244del (p.His415fs)
|
rs760642305
|
0.00002
|
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)
|
rs1460517643
|
0.00002
|
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)
|
rs1555202584
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter)
|
rs369159801
|
0.00002
|
NM_024753.5(TTC21B):c.2482dup (p.Met828fs)
|
rs906032090
|
0.00002
|
NM_025074.7(FRAS1):c.3010+1G>A
|
rs574631014
|
0.00002
|
NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter)
|
rs186964660
|
0.00002
|
NM_025114.4(CEP290):c.1066-1G>A
|
rs965522059
|
0.00002
|
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)
|
rs776645403
|
0.00002
|
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)
|
rs137852833
|
0.00002
|
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)
|
rs770126103
|
0.00002
|
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)
|
rs758991387
|
0.00002
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
NM_025114.4(CEP290):c.6012-12T>A
|
rs752197734
|
0.00002
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)
|
rs760540562
|
0.00002
|
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs)
|
rs767231715
|
0.00002
|
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter)
|
rs775189201
|
0.00002
|
NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter)
|
rs748174246
|
0.00002
|
NM_025216.3(WNT10A):c.1084T>C (p.Cys362Arg)
|
rs1268725013
|
0.00002
|
NM_025216.3(WNT10A):c.311G>A (p.Arg104His)
|
rs374910216
|
0.00002
|
NM_025216.3(WNT10A):c.376+1G>A
|
rs561503117
|
0.00002
|
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter)
|
rs762739726
|
0.00002
|
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter)
|
rs886039453
|
0.00002
|
NM_030943.4(AMN):c.122C>T (p.Thr41Ile)
|
rs119478058
|
0.00002
|
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)
|
rs762047808
|
0.00002
|
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)
|
rs764164384
|
0.00002
|
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)
|
rs777309662
|
0.00002
|
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs)
|
rs765376986
|
0.00002
|
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter)
|
rs747622607
|
0.00002
|
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg)
|
rs756460900
|
0.00002
|
NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter)
|
rs267600727
|
0.00002
|
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu)
|
rs374042455
|
0.00002
|
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter)
|
rs797044992
|
0.00002
|
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)
|
rs914062190
|
0.00002
|
NM_033100.4(CDHR1):c.524dup (p.Asn176fs)
|
rs781781440
|
0.00002
|
NM_052989.3(IFT122):c.2668C>T (p.Arg890Ter)
|
rs1039467525
|
0.00002
|
NM_133261.3(GIPC3):c.136G>A (p.Gly46Arg)
|
rs946085339
|
0.00002
|
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter)
|
rs148559256
|
0.00002
|
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro)
|
rs138527651
|
0.00002
|
NM_138691.3(TMC1):c.1960A>G (p.Met654Val)
|
rs121908074
|
0.00002
|
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu)
|
rs755694066
|
0.00002
|
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)
|
rs201082169
|
0.00002
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter)
|
rs765934021
|
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.5513A>G (p.Tyr1838Cys)
|
rs777999875
|
0.00002
|
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
|
rs774290802
|
0.00002
|
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)
|
rs369626030
|
0.00002
|
NM_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.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00002
|
NM_145886.4(PIDD1):c.2584C>T (p.Arg862Trp)
|
rs747620551
|
0.00002
|
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter)
|
rs779707723
|
0.00002
|
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)
|
rs760382778
|
0.00002
|
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)
|
rs376133710
|
0.00002
|
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)
|
rs753581033
|
0.00002
|
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)
|
rs28942097
|
0.00002
|
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)
|
rs119456961
|
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.3775C>T (p.Arg1259Ter)
|
rs758716466
|
0.00002
|
NM_153240.5(NPHP3):c.469del (p.Arg157fs)
|
rs773760404
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter)
|
rs139956283
|
0.00002
|
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)
|
rs752362727
|
0.00002
|
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)
|
rs751517725
|
0.00002
|
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)
|
rs765468645
|
0.00002
|
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)
|
rs121908424
|
0.00002
|
NM_153717.3(EVC):c.2782+1G>T
|
rs1007534611
|
0.00002
|
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter)
|
rs760752847
|
0.00002
|
NM_178170.3(NEK8):c.379C>T (p.Arg127Ter)
|
rs752792782
|
0.00002
|
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)
|
rs375077588
|
0.00002
|
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter)
|
rs778445117
|
0.00002
|
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter)
|
rs199708211
|
0.00002
|
NM_183065.4(TMEM107):c.*689A>G
|
rs1400162090
|
0.00002
|
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)
|
rs781688103
|
0.00002
|
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)
|
rs775081992
|
0.00002
|
NM_199292.3(TH):c.-71C>T
|
rs549435434
|
0.00002
|
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)
|
rs763111500
|
0.00002
|
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)
|
rs145282040
|
0.00002
|
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)
|
rs757740068
|
0.00002
|
NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter)
|
rs387906802
|
0.00002
|
NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp)
|
rs104894676
|
0.00002
|
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489
|
0.00002
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
0.00002
|
NM_206933.4(USH2A):c.12295-2A>G
|
rs151148854
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)
|
rs752377040
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)
|
rs757154662
|
0.00002
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
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.779T>G (p.Leu260Ter)
|
rs121912598
|
0.00002
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_206933.4(USH2A):c.9371+1G>C
|
rs41308425
|
0.00002
|
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter)
|
rs939534674
|
0.00002
|
NM_213599.3(ANO5):c.1944_1945del (p.Lys650fs)
|
rs1308707703
|
0.00002
|
NM_213599.3(ANO5):c.220C>T (p.Arg74Ter)
|
rs749645231
|
0.00002
|
NC_000005.9:g.118829592G>T
|
rs368744809
|
0.00001
|
NC_000007.14:g.117478787A>G
|
rs1195721615
|
0.00001
|
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.1163+1G>A
|
rs1423476705
|
0.00001
|
NM_000019.4(ACAT1):c.1163+2T>C
|
rs1280110907
|
0.00001
|
NM_000019.4(ACAT1):c.1189C>A (p.His397Asn)
|
rs746332363
|
0.00001
|
NM_000019.4(ACAT1):c.1A>G (p.Met1Val)
|
rs1305448140
|
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.814C>T (p.Gln272Ter)
|
rs120074144
|
0.00001
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)
|
rs780486838
|
0.00001
|
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)
|
rs120074147
|
0.00001
|
NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter)
|
rs1469248513
|
0.00001
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000023.4(SGCA):c.157+1G>A
|
rs113109898
|
0.00001
|
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)
|
rs60407644
|
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.530del (p.Ser177fs)
|
rs886041387
|
0.00001
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
NM_000023.4(SGCA):c.585-1G>A
|
rs1342189589
|
0.00001
|
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter)
|
rs369583279
|
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.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)
|
rs1400231534
|
0.00001
|
NM_000057.4(BLM):c.2488dup (p.Thr830fs)
|
rs367543019
|
0.00001
|
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)
|
rs367543024
|
0.00001
|
NM_000057.4(BLM):c.3020-258A>G
|
rs1301751251
|
0.00001
|
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter)
|
rs1472603091
|
0.00001
|
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)
|
rs1057517154
|
0.00001
|
NM_000057.4(BLM):c.3727dup (p.Thr1243fs)
|
rs367543021
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NM_000067.3(CA2):c.319C>T (p.His107Tyr)
|
rs118203933
|
0.00001
|
NM_000067.3(CA2):c.508-1G>C
|
rs1444065478
|
0.00001
|
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)
|
rs766334893
|
0.00001
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
NM_000070.3(CAPN3):c.1084C>T (p.Gln362Ter)
|
rs965032792
|
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.1448C>A (p.Ala483Asp)
|
rs781723572
|
0.00001
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)
|
rs863224957
|
0.00001
|
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter)
|
rs886042439
|
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.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)
|
rs762471207
|
0.00001
|
NM_000070.3(CAPN3):c.1A>G (p.Met1Val)
|
rs1566965796
|
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.2184G>A (p.Gln728=)
|
rs886043220
|
0.00001
|
NM_000070.3(CAPN3):c.2185-2A>G
|
rs886041335
|
0.00001
|
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)
|
rs750083132
|
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.257C>T (p.Ser86Phe)
|
rs121434546
|
0.00001
|
NM_000070.3(CAPN3):c.2del (p.Met1fs)
|
rs1566965806
|
0.00001
|
NM_000070.3(CAPN3):c.379+3A>G
|
rs1164215001
|
0.00001
|
NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)
|
rs878854364
|
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.743T>G (p.Met248Arg)
|
rs777829958
|
0.00001
|
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)
|
rs1555420652
|
0.00001
|
NM_000070.3(CAPN3):c.853dup (p.Glu285fs)
|
rs761257703
|
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.479C>T (p.Ala160Val)
|
rs121434325
|
0.00001
|
NM_000082.4(ERCC8):c.600dup (p.Ile201fs)
|
rs1468231556
|
0.00001
|
NM_000082.4(ERCC8):c.618-1G>A
|
rs201464610
|
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_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)
|
rs767000881
|
0.00001
|
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter)
|
rs201714423
|
0.00001
|
NM_000083.3(CLCN1):c.1235A>C (p.Gln412Pro)
|
rs1279658001
|
0.00001
|
NM_000083.3(CLCN1):c.1247G>A (p.Gly416Glu)
|
rs1360333956
|
0.00001
|
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys)
|
rs756981034
|
0.00001
|
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)
|
rs780834658
|
0.00001
|
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)
|
rs149892539
|
0.00001
|
NM_000083.3(CLCN1):c.1401+1G>T
|
rs769861892
|
0.00001
|
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg)
|
rs746125212
|
0.00001
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
0.00001
|
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser)
|
rs121912801
|
0.00001
|
NM_000083.3(CLCN1):c.1580T>G (p.Ile527Ser)
|
rs1319653705
|
0.00001
|
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)
|
rs80356704
|
0.00001
|
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)
|
rs80356696
|
0.00001
|
NM_000083.3(CLCN1):c.1785G>A (p.Trp595Ter)
|
rs376321837
|
0.00001
|
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter)
|
rs201894078
|
0.00001
|
NM_000083.3(CLCN1):c.2058C>G (p.Tyr686Ter)
|
rs1417174086
|
0.00001
|
NM_000083.3(CLCN1):c.2172+1G>T
|
rs1273524525
|
0.00001
|
NM_000083.3(CLCN1):c.2364+2T>A
|
rs886041384
|
0.00001
|
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter)
|
rs1057518917
|
0.00001
|
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)
|
rs748639603
|
0.00001
|
NM_000083.3(CLCN1):c.47G>A (p.Trp16Ter)
|
rs769092535
|
0.00001
|
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val)
|
rs80356685
|
0.00001
|
NM_000083.3(CLCN1):c.774G>A (p.Glu258=)
|
rs770605959
|
0.00001
|
NM_000083.3(CLCN1):c.789del (p.Ser264fs)
|
rs770081373
|
0.00001
|
NM_000083.3(CLCN1):c.817G>A (p.Val273Met)
|
rs921162119
|
0.00001
|
NM_000083.3(CLCN1):c.854-2A>G
|
rs1802699135
|
0.00001
|
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)
|
rs121912805
|
0.00001
|
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter)
|
rs1229066957
|
0.00001
|
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)
|
rs80356691
|
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_000083.3(CLCN1):c.959C>T (p.Ala320Val)
|
rs1478129213
|
0.00001
|
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)
|
rs773515249
|
0.00001
|
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)
|
rs1060499654
|
0.00001
|
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter)
|
rs1453590085
|
0.00001
|
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter)
|
rs766900945
|
0.00001
|
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)
|
rs267606745
|
0.00001
|
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu)
|
rs375290088
|
0.00001
|
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter)
|
rs769863513
|
0.00001
|
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala)
|
rs751952236
|
0.00001
|
NM_000092.5(COL4A4):c.1856G>A (p.Gly619Asp)
|
rs374340855
|
0.00001
|
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)
|
rs121912860
|
0.00001
|
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
NM_000092.5(COL4A4):c.4449_4450dup (p.Met1484fs)
|
rs761200469
|
0.00001
|
NM_000092.5(COL4A4):c.489+1G>A
|
rs1040287646
|
0.00001
|
NM_000092.5(COL4A4):c.735+2T>C
|
rs2060993180
|
0.00001
|
NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter)
|
rs121434573
|
0.00001
|
NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter)
|
rs121434572
|
0.00001
|
NM_000124.4(ERCC6):c.1526+1G>T
|
rs371739894
|
0.00001
|
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp)
|
rs202080674
|
0.00001
|
NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter)
|
rs780538788
|
0.00001
|
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter)
|
rs121917903
|
0.00001
|
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)
|
rs751448793
|
0.00001
|
NM_000124.4(ERCC6):c.2830-2A>G
|
rs373227647
|
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.543+4del
|
rs527236039
|
0.00001
|
NM_000144.5(FXN):c.3G>T (p.Met1Ile)
|
rs104894108
|
0.00001
|
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
|
rs1085307455
|
0.00001
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
NM_000163.5(GHR):c.168C>A (p.Cys56Ter)
|
rs121909359
|
0.00001
|
NM_000163.5(GHR):c.504T>G (p.His168Gln)
|
rs121909373
|
0.00001
|
NM_000163.5(GHR):c.508G>C (p.Asp170His)
|
rs121909366
|
0.00001
|
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)
|
rs962041031
|
0.00001
|
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)
|
rs61749676
|
0.00001
|
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)
|
rs748798324
|
0.00001
|
NM_000180.4(GUCY2D):c.1566+1G>A
|
rs1348467293
|
0.00001
|
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)
|
rs1290420698
|
0.00001
|
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)
|
rs61750161
|
0.00001
|
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)
|
rs750889782
|
0.00001
|
NM_000180.4(GUCY2D):c.2383C>T (p.Arg795Trp)
|
rs765910207
|
0.00001
|
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln)
|
rs61750171
|
0.00001
|
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)
|
rs61750172
|
0.00001
|
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)
|
rs1555635778
|
0.00001
|
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn)
|
rs201587670
|
0.00001
|
NM_000180.4(GUCY2D):c.3224+1G>C
|
rs757823463
|
0.00001
|
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)
|
rs281865409
|
0.00001
|
NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter)
|
rs1403798841
|
0.00001
|
NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter)
|
rs1308509257
|
0.00001
|
NM_000208.4(INSR):c.1195C>T (p.Arg399Ter)
|
rs121913151
|
0.00001
|
NM_000208.4(INSR):c.1459A>G (p.Lys487Glu)
|
rs121913136
|
0.00001
|
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys)
|
rs137852609
|
0.00001
|
NM_000211.5(ITGB2):c.2T>A (p.Met1Lys)
|
rs387906411
|
0.00001
|
NM_000211.5(ITGB2):c.382G>A (p.Asp128Asn)
|
rs137852615
|
0.00001
|
NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter)
|
rs148877937
|
0.00001
|
NM_000231.3(SGCG):c.342dup (p.Ala115fs)
|
rs1262459682
|
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_000231.3(SGCG):c.752del (p.Thr251fs)
|
rs886042749
|
0.00001
|
NM_000231.3(SGCG):c.87dup (p.Gly30fs)
|
rs762777463
|
0.00001
|
NM_000232.5(SGCB):c.1A>G (p.Met1Val)
|
rs398123262
|
0.00001
|
NM_000232.5(SGCB):c.265G>A (p.Val89Met)
|
rs762652676
|
0.00001
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)
|
rs779516489
|
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.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter)
|
rs121913580
|
0.00001
|
NM_000254.3(MTR):c.2020C>T (p.Arg674Cys)
|
rs150058137
|
0.00001
|
NM_000254.3(MTR):c.2101del (p.Tyr701fs)
|
rs762727293
|
0.00001
|
NM_000254.3(MTR):c.2474-1G>C
|
rs757963570
|
0.00001
|
NM_000254.3(MTR):c.340-166A>G
|
rs1661117141
|
0.00001
|
NM_000254.3(MTR):c.3439C>T (p.Arg1147Ter)
|
rs201718371
|
0.00001
|
NM_000260.4(MYO7A):c.133-2A>G
|
rs782064437
|
0.00001
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00001
|
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)
|
rs1591310948
|
0.00001
|
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)
|
rs111033180
|
0.00001
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter)
|
rs782255281
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)
|
rs201892914
|
0.00001
|
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)
|
rs1279918132
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)
|
rs376535635
|
0.00001
|
NM_000260.4(MYO7A):c.3504-1G>C
|
rs1555090171
|
0.00001
|
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)
|
rs782694195
|
0.00001
|
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)
|
rs766641715
|
0.00001
|
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter)
|
rs397516308
|
0.00001
|
NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter)
|
rs778934538
|
0.00001
|
NM_000260.4(MYO7A):c.470+1G>A
|
rs797044510
|
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.5146G>T (p.Glu1716Ter)
|
rs1236207116
|
0.00001
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)
|
rs878864531
|
0.00001
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321
|
0.00001
|
NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg)
|
rs761469964
|
0.00001
|
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)
|
rs111033198
|
0.00001
|
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter)
|
rs1060499802
|
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.999T>G (p.Tyr333Ter)
|
rs111033285
|
0.00001
|
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)
|
rs1555637232
|
0.00001
|
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala)
|
rs120074134
|
0.00001
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)
|
rs139751448
|
0.00001
|
NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter)
|
rs775629081
|
0.00001
|
NM_000271.5(NPC1):c.1270C>T (p.Pro424Ser)
|
rs143797098
|
0.00001
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
NM_000271.5(NPC1):c.1547G>A (p.Cys516Tyr)
|
rs751951695
|
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.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
NM_000271.5(NPC1):c.2269G>A (p.Val757Met)
|
rs777156729
|
0.00001
|
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)
|
rs772565983
|
0.00001
|
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro)
|
rs80358253
|
0.00001
|
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser)
|
rs768999208
|
0.00001
|
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr)
|
rs564631426
|
0.00001
|
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)
|
rs370721218
|
0.00001
|
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)
|
rs786204714
|
0.00001
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
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.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000271.5(NPC1):c.2972del (p.Gln991fs)
|
rs1567948623
|
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.3160G>A (p.Ala1054Thr)
|
rs80358258
|
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.3394G>A (p.Ala1132Thr)
|
rs1046046139
|
0.00001
|
NM_000271.5(NPC1):c.3422T>G (p.Val1141Gly)
|
rs144725473
|
0.00001
|
NM_000271.5(NPC1):c.3477+2T>C
|
rs772898831
|
0.00001
|
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)
|
rs748862167
|
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.3591+4del
|
rs794727371
|
0.00001
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
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_000277.3(PAH):c.1012G>T (p.Asp338Tyr)
|
rs62516150
|
0.00001
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
NM_000277.3(PAH):c.1183G>C (p.Ala395Pro)
|
rs62516103
|
0.00001
|
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)
|
rs62508736
|
0.00001
|
NM_000277.3(PAH):c.1199+17G>A
|
rs62508613
|
0.00001
|
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys)
|
rs199475658
|
0.00001
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)
|
rs1402168594
|
0.00001
|
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)
|
rs76542238
|
0.00001
|
NM_000277.3(PAH):c.140C>T (p.Ala47Val)
|
rs118203925
|
0.00001
|
NM_000277.3(PAH):c.169-13T>G
|
rs62507341
|
0.00001
|
NM_000277.3(PAH):c.169-2A>G
|
rs1226613045
|
0.00001
|
NM_000277.3(PAH):c.176A>T (p.Asp59Val)
|
rs199475672
|
0.00001
|
NM_000277.3(PAH):c.183C>G (p.Asn61Lys)
|
rs199475634
|
0.00001
|
NM_000277.3(PAH):c.193A>G (p.Ile65Val)
|
rs199475643
|
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.241A>C (p.Thr81Pro)
|
rs62509017
|
0.00001
|
NM_000277.3(PAH):c.275C>T (p.Thr92Ile)
|
rs62514903
|
0.00001
|
NM_000277.3(PAH):c.281T>G (p.Ile94Ser)
|
rs62508677
|
0.00001
|
NM_000277.3(PAH):c.307G>T (p.Gly103Cys)
|
rs752792040
|
0.00001
|
NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del)
|
rs398123291
|
0.00001
|
NM_000277.3(PAH):c.320A>G (p.His107Arg)
|
rs542645236
|
0.00001
|
NM_000277.3(PAH):c.36del (p.Arg13fs)
|
rs1878413079
|
0.00001
|
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)
|
rs199475623
|
0.00001
|
NM_000277.3(PAH):c.441+1G>A
|
rs62517166
|
0.00001
|
NM_000277.3(PAH):c.441+4A>G
|
rs62508586
|
0.00001
|
NM_000277.3(PAH):c.441+5G>T
|
rs62507321
|
0.00001
|
NM_000277.3(PAH):c.442-5C>G
|
rs62514909
|
0.00001
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
NM_000277.3(PAH):c.490A>G (p.Ile164Val)
|
rs199475647
|
0.00001
|
NM_000277.3(PAH):c.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.532G>A (p.Glu178Lys)
|
rs1448720360
|
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.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000277.3(PAH):c.569T>C (p.Val190Ala)
|
rs62514919
|
0.00001
|
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)
|
rs62514927
|
0.00001
|
NM_000277.3(PAH):c.653G>T (p.Gly218Val)
|
rs62514933
|
0.00001
|
NM_000277.3(PAH):c.665A>G (p.Asp222Gly)
|
rs62507319
|
0.00001
|
NM_000277.3(PAH):c.673C>A (p.Pro225Thr)
|
rs199475589
|
0.00001
|
NM_000277.3(PAH):c.694C>T (p.Gln232Ter)
|
rs62507348
|
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.737del (p.Ala246fs)
|
rs199475666
|
0.00001
|
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
NM_000277.3(PAH):c.776C>T (p.Ala259Val)
|
rs118203921
|
0.00001
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
NM_000277.3(PAH):c.789C>G (p.Phe263Leu)
|
rs62642944
|
0.00001
|
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)
|
rs62514953
|
0.00001
|
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
NM_000277.3(PAH):c.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.847A>T (p.Ile283Phe)
|
rs62517168
|
0.00001
|
NM_000277.3(PAH):c.848T>A (p.Ile283Asn)
|
rs62508693
|
0.00001
|
NM_000277.3(PAH):c.865G>A (p.Gly289Arg)
|
rs199475693
|
0.00001
|
NM_000277.3(PAH):c.875C>T (p.Pro292Leu)
|
rs1200240274
|
0.00001
|
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)
|
rs62642945
|
0.00001
|
NM_000277.3(PAH):c.912+1G>A
|
rs62514956
|
0.00001
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
NM_000277.3(PAH):c.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.969+6T>A
|
rs62517196
|
0.00001
|
NM_000277.3(PAH):c.970-1G>A
|
rs202183605
|
0.00001
|
NM_000277.3(PAH):c.970A>G (p.Ile324Val)
|
rs1221031352
|
0.00001
|
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)
|
rs199475616
|
0.00001
|
NM_000277.3(PAH):c.997C>T (p.Leu333Phe)
|
rs62516060
|
0.00001
|
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)
|
rs104894177
|
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.31del (p.Ala11fs)
|
rs1290469936
|
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_000286.3(PEX12):c.744dup (p.Thr249fs)
|
rs61752108
|
0.00001
|
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs)
|
rs1408438094
|
0.00001
|
NM_000287.4(PEX6):c.1287del (p.Trp430fs)
|
rs1258472160
|
0.00001
|
NM_000287.4(PEX6):c.1313dup (p.Glu439fs)
|
rs770055192
|
0.00001
|
NM_000287.4(PEX6):c.1798C>T (p.Gln600Ter)
|
rs1769875600
|
0.00001
|
NM_000287.4(PEX6):c.1841del (p.Leu614fs)
|
rs863225083
|
0.00001
|
NM_000287.4(PEX6):c.2205del (p.Arg736fs)
|
rs1197432552
|
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.2585G>T (p.Gly862Val)
|
rs764227040
|
0.00001
|
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)
|
rs1010184002
|
0.00001
|
NM_000287.4(PEX6):c.510_511del (p.Asp172fs)
|
rs61753211
|
0.00001
|
NM_000287.4(PEX6):c.517del (p.Ser173fs)
|
rs61753212
|
0.00001
|
NM_000287.4(PEX6):c.611C>G (p.Ser204Ter)
|
rs773056086
|
0.00001
|
NM_000288.4(PEX7):c.130+1G>A
|
rs267608253
|
0.00001
|
NM_000288.4(PEX7):c.188+1G>C
|
rs267608254
|
0.00001
|
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)
|
rs121909154
|
0.00001
|
NM_000288.4(PEX7):c.429del (p.Val144fs)
|
rs61753248
|
0.00001
|
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)
|
rs764924345
|
0.00001
|
NM_000288.4(PEX7):c.804-2A>C
|
rs774676095
|
0.00001
|
NM_000288.4(PEX7):c.854A>G (p.His285Arg)
|
rs62653611
|
0.00001
|
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
|
rs1032781250
|
0.00001
|
NM_000302.4(PLOD1):c.166C>T (p.Gln56Ter)
|
rs1433428588
|
0.00001
|
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter)
|
rs1439043436
|
0.00001
|
NM_000302.4(PLOD1):c.467-2del
|
rs1440249864
|
0.00001
|
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)
|
rs121913550
|
0.00001
|
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter)
|
rs1224538282
|
0.00001
|
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)
|
rs104894275
|
0.00001
|
NM_000317.3(PTS):c.186+1G>T
|
rs1256819927
|
0.00001
|
NM_000317.3(PTS):c.187A>G (p.Ile63Val)
|
rs778053171
|
0.00001
|
NM_000317.3(PTS):c.200C>T (p.Thr67Met)
|
rs370340361
|
0.00001
|
NM_000317.3(PTS):c.216T>A (p.Asn72Lys)
|
rs200279736
|
0.00001
|
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
NM_000317.3(PTS):c.367C>T (p.Pro123Ser)
|
rs141163668
|
0.00001
|
NM_000317.3(PTS):c.74_76dup (p.Leu26Ter)
|
rs765777664
|
0.00001
|
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)
|
rs1317230624
|
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.508G>A (p.Gly170Ser)
|
rs769460415
|
0.00001
|
NM_000320.3(QDPR):c.644G>A (p.Trp215Ter)
|
rs778806991
|
0.00001
|
NM_000320.3(QDPR):c.661C>T (p.Arg221Ter)
|
rs779997983
|
0.00001
|
NM_000320.3(QDPR):c.68G>A (p.Gly23Asp)
|
rs104893863
|
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.1229C>A (p.Ser410Ter)
|
rs1235881190
|
0.00001
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)
|
rs1395763356
|
0.00001
|
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)
|
rs749242996
|
0.00001
|
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)
|
rs62653015
|
0.00001
|
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)
|
rs281865285
|
0.00001
|
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)
|
rs1645929674
|
0.00001
|
NM_000329.3(RPE65):c.493C>T (p.Gln165Ter)
|
rs1202384396
|
0.00001
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)
|
rs752058510
|
0.00001
|
NM_000329.3(RPE65):c.644-2A>C
|
rs61752891
|
0.00001
|
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)
|
rs61752895
|
0.00001
|
NM_000329.3(RPE65):c.725+2T>A
|
rs1355979496
|
0.00001
|
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)
|
rs61752904
|
0.00001
|
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)
|
rs1171545533
|
0.00001
|
NM_000329.3(RPE65):c.938A>G (p.His313Arg)
|
rs1375943362
|
0.00001
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)
|
rs761471961
|
0.00001
|
NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)
|
rs1645879569
|
0.00001
|
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys)
|
rs1188070167
|
0.00001
|
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)
|
rs121908557
|
0.00001
|
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)
|
rs879253789
|
0.00001
|
NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His)
|
rs863225046
|
0.00001
|
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser)
|
rs137852706
|
0.00001
|
NM_000337.6(SGCD):c.10C>T (p.Gln4Ter)
|
rs1768838504
|
0.00001
|
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)
|
rs121909295
|
0.00001
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)
|
rs121918732
|
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.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
NM_000360.4(TH):c.646G>A (p.Gly216Ser)
|
rs762304556
|
0.00001
|
NM_000360.4(TH):c.733A>C (p.Thr245Pro)
|
rs28934581
|
0.00001
|
NM_000360.4(TH):c.848C>T (p.Thr283Met)
|
rs121917764
|
0.00001
|
NM_000360.4(TH):c.850G>A (p.Gly284Ser)
|
rs1288483479
|
0.00001
|
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)
|
rs397515522
|
0.00001
|
NM_000370.3(TTPA):c.205-1G>C
|
rs886040963
|
0.00001
|
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)
|
rs397515524
|
0.00001
|
NM_000372.5(TYR):c.1036+1G>A
|
rs763715899
|
0.00001
|
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)
|
rs1013801316
|
0.00001
|
NM_000372.5(TYR):c.1110G>A (p.Met370Ile)
|
rs1207709557
|
0.00001
|
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr)
|
rs61754387
|
0.00001
|
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)
|
rs104894316
|
0.00001
|
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)
|
rs61754392
|
0.00001
|
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln)
|
rs61754393
|
0.00001
|
NM_000372.5(TYR):c.1501dup (p.Arg501fs)
|
rs281865328
|
0.00001
|
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)
|
rs28940879
|
0.00001
|
NM_000372.5(TYR):c.61C>T (p.Pro21Ser)
|
rs61753178
|
0.00001
|
NM_000372.5(TYR):c.658C>T (p.Gln220Ter)
|
rs797046083
|
0.00001
|
NM_000372.5(TYR):c.707G>A (p.Trp236Ter)
|
rs61754367
|
0.00001
|
NM_000372.5(TYR):c.74dup (p.Ser26fs)
|
rs1057518763
|
0.00001
|
NM_000372.5(TYR):c.880G>A (p.Glu294Lys)
|
rs757754120
|
0.00001
|
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)
|
rs72547575
|
0.00001
|
NM_000382.3(ALDH3A2):c.798+1_798+6del
|
rs1057517352
|
0.00001
|
NM_000384.3(APOB):c.10633G>T (p.Glu3545Ter)
|
rs759934326
|
0.00001
|
NM_000384.3(APOB):c.11712del (p.Asn3904fs)
|
rs587776852
|
0.00001
|
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter)
|
rs121918386
|
0.00001
|
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter)
|
rs121918390
|
0.00001
|
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)
|
rs398122959
|
0.00001
|
NM_000391.4(TPP1):c.851G>T (p.Gly284Val)
|
rs119455957
|
0.00001
|
NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter)
|
rs778479250
|
0.00001
|
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp)
|
rs752510317
|
0.00001
|
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn)
|
rs121913023
|
0.00001
|
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)
|
rs758439420
|
0.00001
|
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)
|
rs587777442
|
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.1704T>A (p.Tyr568Ter)
|
rs1038744864
|
0.00001
|
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)
|
rs771510541
|
0.00001
|
NM_000414.4(HSD17B4):c.58+1G>T
|
rs1260517680
|
0.00001
|
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)
|
rs969485098
|
0.00001
|
NM_000414.4(HSD17B4):c.751C>T (p.Arg251Trp)
|
rs771780974
|
0.00001
|
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln)
|
rs773024366
|
0.00001
|
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
|
rs202247791
|
0.00001
|
NM_000426.4(LAMA2):c.396+1G>T
|
rs770617208
|
0.00001
|
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs)
|
rs1433071073
|
0.00001
|
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)
|
rs200923373
|
0.00001
|
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)
|
rs762806915
|
0.00001
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
NM_000441.2(SLC26A4):c.1150-1G>A
|
rs1791525285
|
0.00001
|
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)
|
rs397516416
|
0.00001
|
NM_000441.2(SLC26A4):c.1614+1G>A
|
rs111033312
|
0.00001
|
NM_000441.2(SLC26A4):c.1615-2A>G
|
rs758823761
|
0.00001
|
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)
|
rs111033257
|
0.00001
|
NM_000441.2(SLC26A4):c.1707+5G>A
|
rs192366176
|
0.00001
|
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter)
|
rs111033200
|
0.00001
|
NM_000441.2(SLC26A4):c.1746del (p.Ala584fs)
|
rs1241745103
|
0.00001
|
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)
|
rs200455203
|
0.00001
|
NM_000441.2(SLC26A4):c.1984dup (p.Cys662fs)
|
rs1271700356
|
0.00001
|
NM_000441.2(SLC26A4):c.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.2186T>C (p.Leu729Pro)
|
rs1045933779
|
0.00001
|
NM_000441.2(SLC26A4):c.2319+1G>A
|
rs542079779
|
0.00001
|
NM_000441.2(SLC26A4):c.349del (p.Leu117fs)
|
rs1275009555
|
0.00001
|
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)
|
rs786204426
|
0.00001
|
NM_000441.2(SLC26A4):c.415+7A>G
|
rs765884316
|
0.00001
|
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)
|
rs760413427
|
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.84C>A (p.Ser28Arg)
|
rs539699299
|
0.00001
|
NM_000441.2(SLC26A4):c.916dup (p.Val306fs)
|
rs768245266
|
0.00001
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
NM_000466.3(PEX1):c.1126del (p.Glu376fs)
|
rs751829426
|
0.00001
|
NM_000466.3(PEX1):c.1795G>T (p.Gly599Ter)
|
rs1792222710
|
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.2614C>T (p.Arg872Ter)
|
rs61750422
|
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.547C>T (p.Arg183Ter)
|
rs149806989
|
0.00001
|
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)
|
rs762679408
|
0.00001
|
NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs)
|
rs397508138
|
0.00001
|
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)
|
rs77409459
|
0.00001
|
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)
|
rs397508154
|
0.00001
|
NM_000492.4(CFTR):c.1081del (p.Trp361fs)
|
rs387906361
|
0.00001
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.1393-2A>G
|
rs397508201
|
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.1477C>T (p.Gln493Ter)
|
rs77101217
|
0.00001
|
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)
|
rs774945680
|
0.00001
|
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)
|
rs397508222
|
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.1584+1G>A
|
rs397508230
|
0.00001
|
NM_000492.4(CFTR):c.1585-9412A>G
|
rs397508229
|
0.00001
|
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)
|
rs387906368
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
|
rs397508256
|
0.00001
|
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)
|
rs193922504
|
0.00001
|
NM_000492.4(CFTR):c.1680-1G>A
|
rs121908794
|
0.00001
|
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn)
|
rs121909006
|
0.00001
|
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)
|
rs121908758
|
0.00001
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)
|
rs397508296
|
0.00001
|
NM_000492.4(CFTR):c.1766+3A>G
|
rs397508298
|
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.1837G>A (p.Ala613Thr)
|
rs201978662
|
0.00001
|
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)
|
rs121908760
|
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.2290C>T (p.Arg764Ter)
|
rs121908810
|
0.00001
|
NM_000492.4(CFTR):c.234dup (p.Trp79fs)
|
rs1189377616
|
0.00001
|
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)
|
rs374946172
|
0.00001
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter)
|
rs397508378
|
0.00001
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter)
|
rs397508393
|
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.273+1G>A
|
rs121908791
|
0.00001
|
NM_000492.4(CFTR):c.273+4A>G
|
rs387906374
|
0.00001
|
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)
|
rs121909008
|
0.00001
|
NM_000492.4(CFTR):c.2810dup (p.Val938fs)
|
rs193922510
|
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.302T>G (p.Leu101Ter)
|
rs397508484
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter)
|
rs397508500
|
0.00001
|
NM_000492.4(CFTR):c.3139_3139+1del
|
rs397508505
|
0.00001
|
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)
|
rs121909019
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)
|
rs397508533
|
0.00001
|
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter)
|
rs121908763
|
0.00001
|
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter)
|
rs121908765
|
0.00001
|
NM_000492.4(CFTR):c.3659del (p.Thr1220fs)
|
rs121908811
|
0.00001
|
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)
|
rs144781064
|
0.00001
|
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)
|
rs267606723
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3744del (p.Lys1250fs)
|
rs121908784
|
0.00001
|
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)
|
rs121909040
|
0.00001
|
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)
|
rs74503330
|
0.00001
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.3808del (p.Asp1270fs)
|
rs763843966
|
0.00001
|
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg)
|
rs397508616
|
0.00001
|
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)
|
rs121909015
|
0.00001
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
NM_000492.4(CFTR):c.4242+1G>T
|
rs372227120
|
0.00001
|
NM_000492.4(CFTR):c.4243-2A>G
|
rs397508705
|
0.00001
|
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)
|
rs121909043
|
0.00001
|
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)
|
rs397508727
|
0.00001
|
NM_000492.4(CFTR):c.579+5G>A
|
rs78440224
|
0.00001
|
NM_000492.4(CFTR):c.580-2A>G
|
rs193922730
|
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.868C>T (p.Gln290Ter)
|
rs397508808
|
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_000492.4(CFTR):c.94C>A (p.Leu32Met)
|
rs776797377
|
0.00001
|
NM_000506.3(F2):c.1054G>A (p.Glu352Lys)
|
rs121918484
|
0.00001
|
NM_000506.3(F2):c.1381C>T (p.Arg461Trp)
|
rs121918478
|
0.00001
|
NM_000506.5(F2):c.260A>G (p.Tyr87Cys)
|
rs1227147475
|
0.00001
|
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
|
rs33949486
|
0.00001
|
NM_000518.5(HBB):c.-78A>G
|
rs33931746
|
0.00001
|
NM_000518.5(HBB):c.25_26del (p.Lys9fs)
|
rs35497102
|
0.00001
|
NM_000518.5(HBB):c.61G>A (p.Val21Met)
|
rs35890959
|
0.00001
|
NM_000518.5(HBB):c.92+2T>C
|
rs33956879
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)
|
rs776442314
|
0.00001
|
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)
|
rs755160837
|
0.00001
|
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)
|
rs120074126
|
0.00001
|
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)
|
rs794727629
|
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.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
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.1805G>A (p.Arg602His)
|
rs370129081
|
0.00001
|
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)
|
rs868423827
|
0.00001
|
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)
|
rs1847910654
|
0.00001
|
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter)
|
rs1554934212
|
0.00001
|
NM_000543.5(SMPD1):c.573del (p.Ser192fs)
|
rs727504167
|
0.00001
|
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)
|
rs764317969
|
0.00001
|
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)
|
rs989639224
|
0.00001
|
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)
|
rs200763423
|
0.00001
|
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)
|
rs750779804
|
0.00001
|
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
|
rs120074128
|
0.00001
|
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala)
|
rs761308217
|
0.00001
|
NM_000553.6(WRN):c.1486A>T (p.Lys496Ter)
|
rs751969803
|
0.00001
|
NM_000553.6(WRN):c.2194C>T (p.Arg732Ter)
|
rs143916053
|
0.00001
|
NM_000553.6(WRN):c.2221C>T (p.Arg741Ter)
|
rs763089663
|
0.00001
|
NM_000553.6(WRN):c.2551G>T (p.Glu851Ter)
|
rs1428459485
|
0.00001
|
NM_000553.6(WRN):c.2855C>G (p.Ser952Ter)
|
rs1441659798
|
0.00001
|
NM_000553.6(WRN):c.2952del (p.Leu984fs)
|
rs1455560468
|
0.00001
|
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter)
|
rs371720457
|
0.00001
|
NM_000553.6(WRN):c.3130dup (p.Thr1044fs)
|
rs1563376595
|
0.00001
|
NM_000553.6(WRN):c.3175C>T (p.Gln1059Ter)
|
rs1319491415
|
0.00001
|
NM_000553.6(WRN):c.3383+1G>T
|
rs1413656527
|
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.3724C>T (p.Gln1242Ter)
|
rs762379051
|
0.00001
|
NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter)
|
rs1303126572
|
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.961G>T (p.Glu321Ter)
|
rs779012596
|
0.00001
|
NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro)
|
rs28936683
|
0.00001
|
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter)
|
rs756667927
|
0.00001
|
NM_000760.4(CSF3R):c.799del (p.Glu267fs)
|
rs759302795
|
0.00001
|
NM_000784.4(CYP27A1):c.1185-1G>A
|
rs587778779
|
0.00001
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+2T>C
|
rs777935791
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+5G>T
|
rs587778784
|
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.32G>A (p.Trp11Ter)
|
rs1398584213
|
0.00001
|
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter)
|
rs1319938730
|
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.446+1G>A
|
rs587778797
|
0.00001
|
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)
|
rs72551314
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)
|
rs72551315
|
0.00001
|
NM_000784.4(CYP27A1):c.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_001013838.3(CARMIL2):c.871+1G>T
|
rs886041044
|
0.00001
|
NM_001015880.2(PAPSS2):c.1000C>T (p.Arg334Ter)
|
rs121908952
|
0.00001
|
NM_001017420.3(ESCO2):c.1131+1G>A
|
rs80359861
|
0.00001
|
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter)
|
rs80359849
|
0.00001
|
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)
|
rs387907009
|
0.00001
|
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter)
|
rs867772426
|
0.00001
|
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)
|
rs373909351
|
0.00001
|
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter)
|
rs1280238814
|
0.00001
|
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)
|
rs779858591
|
0.00001
|
NM_001023570.4(IQCB1):c.488-1G>A
|
rs779696701
|
0.00001
|
NM_001023570.4(IQCB1):c.812del (p.Ser271fs)
|
rs748559081
|
0.00001
|
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter)
|
rs1189889920
|
0.00001
|
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly)
|
rs387907088
|
0.00001
|
NM_001031679.3(MSRB3):c.391-1G>A
|
rs751906778
|
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.3202C>T (p.Arg1068Ter)
|
rs118204030
|
0.00001
|
NM_001039213.4(CEACAM16):c.763A>G (p.Arg255Gly)
|
rs1347137461
|
0.00001
|
NM_001039876.3(SYNE4):c.228_229del (p.Trp77fs)
|
rs587777072
|
0.00001
|
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)
|
rs149644940
|
0.00001
|
NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter)
|
rs587777603
|
0.00001
|
NM_001042472.3(ABHD12):c.867+2C>T
|
rs1437849678
|
0.00001
|
NM_001042545.2(LTBP4):c.1252C>T (p.Arg418Ter)
|
rs397515430
|
0.00001
|
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter)
|
rs367688416
|
0.00001
|
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp)
|
rs111706634
|
0.00001
|
NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter)
|
rs1687223389
|
0.00001
|
NM_001044385.3(TMEM237):c.677+1G>A
|
rs793888505
|
0.00001
|
NM_001048166.1(STIL):c.453+5G>A
|
rs863225464
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+1G>A
|
rs587781337
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter)
|
rs863224502
|
0.00001
|
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)
|
rs370124822
|
0.00001
|
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)
|
rs558707786
|
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.437G>A (p.Trp146Ter)
|
rs1306473047
|
0.00001
|
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter)
|
rs768386527
|
0.00001
|
NM_001048174.2(MUTYH):c.493-5A>G
|
rs758377868
|
0.00001
|
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter)
|
rs745921592
|
0.00001
|
NM_001048174.2(MUTYH):c.544C>T (p.Gln182Ter)
|
rs376561094
|
0.00001
|
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met)
|
rs776487884
|
0.00001
|
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter)
|
rs1064796630
|
0.00001
|
NM_001048174.2(MUTYH):c.694C>T (p.Gln232Ter)
|
rs773087549
|
0.00001
|
NM_001048174.2(MUTYH):c.705G>A (p.Trp235Ter)
|
rs1338038953
|
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_001048174.2(MUTYH):c.856C>T (p.Gln286Ter)
|
rs587781338
|
0.00001
|
NM_001077365.2(POMT1):c.1175+1G>A
|
rs1051679985
|
0.00001
|
NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met)
|
rs397515400
|
0.00001
|
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)
|
rs1564364615
|
0.00001
|
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)
|
rs1397478363
|
0.00001
|
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)
|
rs746849558
|
0.00001
|
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)
|
rs119462985
|
0.00001
|
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)
|
rs761848742
|
0.00001
|
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)
|
rs119462987
|
0.00001
|
NM_001077365.2(POMT1):c.280+1G>T
|
rs746823238
|
0.00001
|
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys)
|
rs1289335417
|
0.00001
|
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)
|
rs119462982
|
0.00001
|
NM_001077365.2(POMT1):c.605+1G>T
|
rs766648827
|
0.00001
|
NM_001077365.2(POMT1):c.699+62del
|
rs1356791510
|
0.00001
|
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)
|
rs119462981
|
0.00001
|
NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter)
|
rs759848847
|
0.00001
|
NM_001077365.2(POMT1):c.986+1G>A
|
rs961071228
|
0.00001
|
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter)
|
rs543122080
|
0.00001
|
NM_001077418.3(TMEM231):c.582+1G>A
|
rs752141701
|
0.00001
|
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)
|
rs746763506
|
0.00001
|
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)
|
rs119463992
|
0.00001
|
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)
|
rs121908577
|
0.00001
|
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)
|
rs779331797
|
0.00001
|
NM_001079866.2(BCS1L):c.696del (p.Gly233fs)
|
rs775388576
|
0.00001
|
NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys)
|
rs1197613485
|
0.00001
|
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)
|
rs1280810181
|
0.00001
|
NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs)
|
rs387907321
|
0.00001
|
NM_001080476.3(GRXCR1):c.412C>T (p.Arg138Cys)
|
rs267606856
|
0.00001
|
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)
|
rs774844858
|
0.00001
|
NM_001080516.2(GRXCR2):c.323C>T (p.Ala108Val)
|
rs773457218
|
0.00001
|
NM_001081.4(CUBN):c.1865del (p.Thr622fs)
|
rs386833771
|
0.00001
|
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)
|
rs759203841
|
0.00001
|
NM_001083961.2(WDR62):c.1313G>A (p.Arg438His)
|
rs387907082
|
0.00001
|
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn)
|
rs387907083
|
0.00001
|
NM_001083961.2(WDR62):c.363del (p.Asp122fs)
|
rs587776901
|
0.00001
|
NM_001098484.3(SLC4A4):c.1661G>A (p.Arg554His)
|
rs121908857
|
0.00001
|
NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg)
|
rs370356566
|
0.00001
|
NM_001099287.2(NIPAL4):c.523C>G (p.His175Asp)
|
rs750991783
|
0.00001
|
NM_001099287.2(NIPAL4):c.523del (p.His175fs)
|
rs1212378071
|
0.00001
|
NM_001099287.2(NIPAL4):c.658G>A (p.Gly220Arg)
|
rs757041309
|
0.00001
|
NM_001101426.4(CRPPA):c.550C>T (p.Arg184Ter)
|
rs370499190
|
0.00001
|
NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys)
|
rs1289931198
|
0.00001
|
NM_001110219.3(GJB6):c.14C>T (p.Thr5Met)
|
rs104894414
|
0.00001
|
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)
|
rs104894415
|
0.00001
|
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)
|
rs779357448
|
0.00001
|
NM_001111.5(ADAR):c.3463C>T (p.Arg1155Trp)
|
rs1044845711
|
0.00001
|
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)
|
rs781035395
|
0.00001
|
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)
|
rs1178243254
|
0.00001
|
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)
|
rs61752136
|
0.00001
|
NM_001127649.3(PEX26):c.667+2T>C
|
rs267608191
|
0.00001
|
NM_001127671.2(LIFR):c.1252C>T (p.Arg418Ter)
|
rs765622323
|
0.00001
|
NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter)
|
rs121912501
|
0.00001
|
NM_001127671.2(LIFR):c.2170C>G (p.Pro724Ala)
|
rs863225047
|
0.00001
|
NM_001127671.2(LIFR):c.325G>T (p.Glu109Ter)
|
rs1746736672
|
0.00001
|
NM_001128178.3(NPHP1):c.1270-1G>A
|
rs376492641
|
0.00001
|
NM_001128178.3(NPHP1):c.1352+1del
|
rs747861275
|
0.00001
|
NM_001128178.3(NPHP1):c.1390G>T (p.Glu464Ter)
|
rs764740388
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+1G>T
|
rs1233478832
|
0.00001
|
NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter)
|
rs1473345628
|
0.00001
|
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)
|
rs1311042980
|
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_001128431.4(SLC39A14):c.1066G>A (p.Gly356Ser)
|
rs774860376
|
0.00001
|
NM_001128431.4(SLC39A14):c.382C>T (p.Arg128Trp)
|
rs1291490743
|
0.00001
|
NM_001129.5(AEBP1):c.1630+1G>A
|
rs369016031
|
0.00001
|
NM_001129.5(AEBP1):c.917dup (p.Tyr306Ter)
|
rs1443187318
|
0.00001
|
NM_001130987.2(DYSF):c.1033+1G>A
|
rs201869739
|
0.00001
|
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)
|
rs768546511
|
0.00001
|
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)
|
rs758180890
|
0.00001
|
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)
|
rs886042389
|
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.1888C>T (p.Gln630Ter)
|
rs746873768
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001130987.2(DYSF):c.2698-2A>G
|
rs1420930684
|
0.00001
|
NM_001130987.2(DYSF):c.2864+1G>A
|
rs199954546
|
0.00001
|
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)
|
rs28937581
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)
|
rs886042091
|
0.00001
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)
|
rs763674597
|
0.00001
|
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)
|
rs398123789
|
0.00001
|
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs)
|
rs1156805286
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)
|
rs398123794
|
0.00001
|
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)
|
rs121908959
|
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.1152-2A>G
|
rs753085250
|
0.00001
|
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)
|
rs863225143
|
0.00001
|
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His)
|
rs387907003
|
0.00001
|
NM_001134831.2(AHI1):c.1626+1G>A
|
rs863225137
|
0.00001
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
|
rs751734985
|
0.00001
|
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)
|
rs541041911
|
0.00001
|
NM_001134831.2(AHI1):c.2172del (p.Trp725fs)
|
rs755407014
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)
|
rs863225135
|
0.00001
|
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)
|
rs368788993
|
0.00001
|
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)
|
rs774628957
|
0.00001
|
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
|
rs1270654737
|
0.00001
|
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)
|
rs863225142
|
0.00001
|
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)
|
rs201391050
|
0.00001
|
NM_001139.3(ALOX12B):c.1148C>T (p.Thr383Met)
|
rs760428119
|
0.00001
|
NM_001139.3(ALOX12B):c.1157G>A (p.Arg386His)
|
rs759484732
|
0.00001
|
NM_001139.3(ALOX12B):c.1180G>A (p.Glu394Lys)
|
rs397514529
|
0.00001
|
NM_001139.3(ALOX12B):c.1192C>T (p.His398Tyr)
|
rs752176414
|
0.00001
|
NM_001139.3(ALOX12B):c.1207C>T (p.His403Tyr)
|
rs397514531
|
0.00001
|
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter)
|
rs397514527
|
0.00001
|
NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp)
|
rs764862348
|
0.00001
|
NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln)
|
rs1028050037
|
0.00001
|
NM_001139.3(ALOX12B):c.1427A>G (p.Tyr476Cys)
|
rs1977079083
|
0.00001
|
NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His)
|
rs763468558
|
0.00001
|
NM_001139.3(ALOX12B):c.1495C>T (p.Arg499Cys)
|
rs368323729
|
0.00001
|
NM_001139.3(ALOX12B):c.1787C>T (p.Pro596Leu)
|
rs1360781582
|
0.00001
|
NM_001139.3(ALOX12B):c.1936G>A (p.Gly646Arg)
|
rs1398340320
|
0.00001
|
NM_001139.3(ALOX12B):c.199A>T (p.Ile67Phe)
|
rs397514533
|
0.00001
|
NM_001139.3(ALOX12B):c.209A>C (p.His70Pro)
|
rs1978297441
|
0.00001
|
NM_001139.3(ALOX12B):c.299C>T (p.Pro100Leu)
|
rs1256507861
|
0.00001
|
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)
|
rs397514526
|
0.00001
|
NM_001139.3(ALOX12B):c.341G>A (p.Arg114Gln)
|
rs745541957
|
0.00001
|
NM_001139.3(ALOX12B):c.353-2A>G
|
rs775524204
|
0.00001
|
NM_001139.3(ALOX12B):c.371A>T (p.Asp124Val)
|
rs138503921
|
0.00001
|
NM_001139.3(ALOX12B):c.47C>T (p.Ser16Leu)
|
rs147784568
|
0.00001
|
NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro)
|
rs201575829
|
0.00001
|
NM_001139.3(ALOX12B):c.938T>C (p.Ile313Thr)
|
rs1197603391
|
0.00001
|
NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg)
|
rs281865550
|
0.00001
|
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His)
|
rs368027306
|
0.00001
|
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter)
|
rs267607136
|
0.00001
|
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter)
|
rs766614772
|
0.00001
|
NM_001160372.4(TRAPPC9):c.3279+1G>A
|
rs1489634479
|
0.00001
|
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter)
|
rs587780486
|
0.00001
|
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)
|
rs138358708
|
0.00001
|
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)
|
rs762607878
|
0.00001
|
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe)
|
rs747386965
|
0.00001
|
NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro)
|
rs67470842
|
0.00001
|
NM_001171.6(ABCC6):c.2153A>G (p.Asp718Gly)
|
rs1357894483
|
0.00001
|
NM_001171.6(ABCC6):c.2258T>C (p.Leu753Pro)
|
rs1555512484
|
0.00001
|
NM_001171.6(ABCC6):c.2279G>A (p.Arg760Gln)
|
rs769405586
|
0.00001
|
NM_001171.6(ABCC6):c.2458G>C (p.Ala820Pro)
|
rs72653797
|
0.00001
|
NM_001171.6(ABCC6):c.2477T>C (p.Leu826Pro)
|
rs72653798
|
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.3736-1G>A
|
rs63750273
|
0.00001
|
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter)
|
rs72653749
|
0.00001
|
NM_001171.6(ABCC6):c.3895G>A (p.Gly1299Ser)
|
rs63750446
|
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.4041G>A (p.Gln1347=)
|
rs63751111
|
0.00001
|
NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys)
|
rs63751241
|
0.00001
|
NM_001171.6(ABCC6):c.4209C>A (p.Ser1403Arg)
|
rs63750700
|
0.00001
|
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys)
|
rs72547524
|
0.00001
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr)
|
rs587777546
|
0.00001
|
NM_001184.4(ATR):c.3043C>T (p.Arg1015Ter)
|
rs1453839157
|
0.00001
|
NM_001184.4(ATR):c.5635G>T (p.Asp1879Tyr)
|
rs387907327
|
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_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)
|
rs515726134
|
0.00001
|
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys)
|
rs398122966
|
0.00001
|
NM_001199107.2(TBC1D24):c.1547_1562del (p.Leu516fs)
|
rs2065786997
|
0.00001
|
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)
|
rs483352866
|
0.00001
|
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)
|
rs748302886
|
0.00001
|
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu)
|
rs756181906
|
0.00001
|
NM_001199107.2(TBC1D24):c.706G>A (p.Gly236Ser)
|
rs1183009408
|
0.00001
|
NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His)
|
rs199744635
|
0.00001
|
NM_001199563.2(BVES):c.262C>T (p.Arg88Ter)
|
rs796206315
|
0.00001
|
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter)
|
rs775062249
|
0.00001
|
NM_001205254.2(OCLN):c.1324G>T (p.Glu442Ter)
|
rs759507153
|
0.00001
|
NM_001206999.2(CIT):c.412C>T (p.Gln138Ter)
|
rs879255523
|
0.00001
|
NM_001218.5(CA12):c.427G>A (p.Glu143Lys)
|
rs267606694
|
0.00001
|
NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu)
|
rs28939084
|
0.00001
|
NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys)
|
rs373058706
|
0.00001
|
NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter)
|
rs976363536
|
0.00001
|
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs)
|
rs397517376
|
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.105805del (p.Thr35269fs)
|
rs752787097
|
0.00001
|
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter)
|
rs779948923
|
0.00001
|
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr)
|
rs768296130
|
0.00001
|
NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter)
|
rs565675340
|
0.00001
|
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)
|
rs1009131948
|
0.00001
|
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)
|
rs757082154
|
0.00001
|
NM_001267550.2(TTN):c.14093-1G>A
|
rs869312099
|
0.00001
|
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn)
|
rs1190242728
|
0.00001
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs)
|
rs765879488
|
0.00001
|
NM_001267550.2(TTN):c.38876-2A>C
|
rs1185989004
|
0.00001
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
NM_001267550.2(TTN):c.44816-1G>A
|
rs749705939
|
0.00001
|
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)
|
rs727505350
|
0.00001
|
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)
|
rs397517580
|
0.00001
|
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter)
|
rs751746401
|
0.00001
|
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)
|
rs374140736
|
0.00001
|
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter)
|
rs794729265
|
0.00001
|
NM_001267550.2(TTN):c.51436+1G>A
|
rs761807131
|
0.00001
|
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)
|
rs1343120755
|
0.00001
|
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter)
|
rs753333359
|
0.00001
|
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter)
|
rs72646828
|
0.00001
|
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter)
|
rs794729275
|
0.00001
|
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter)
|
rs1057522256
|
0.00001
|
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)
|
rs878854324
|
0.00001
|
NM_001267550.2(TTN):c.67349-2A>C
|
rs753948675
|
0.00001
|
NM_001267550.2(TTN):c.72669del (p.Asp24224fs)
|
rs727504531
|
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.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)
|
rs727505284
|
0.00001
|
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter)
|
rs886055237
|
0.00001
|
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)
|
rs770038577
|
0.00001
|
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)
|
rs776065839
|
0.00001
|
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)
|
rs794729301
|
0.00001
|
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)
|
rs146572907
|
0.00001
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter)
|
rs869312085
|
0.00001
|
NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro)
|
rs141748845
|
0.00001
|
NM_001267727.2(ARSG):c.338G>A (p.Gly113Asp)
|
rs1244718647
|
0.00001
|
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)
|
rs137854907
|
0.00001
|
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg)
|
rs2037381055
|
0.00001
|
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter)
|
rs104893678
|
0.00001
|
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)
|
rs104893679
|
0.00001
|
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)
|
rs104893680
|
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.3766C>T (p.Gln1256Ter)
|
rs1385101139
|
0.00001
|
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs)
|
rs773025155
|
0.00001
|
NM_001287.6(CLCN7):c.1561G>A (p.Gly521Arg)
|
rs368190250
|
0.00001
|
NM_001292063.2(OTOG):c.294C>G (p.Tyr98Ter)
|
rs574007567
|
0.00001
|
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter)
|
rs397514608
|
0.00001
|
NM_001292063.2(OTOG):c.6721del (p.Asp2241fs)
|
rs1478013002
|
0.00001
|
NM_001304438.2(TMEM132E):c.2474C>T (p.Pro825Leu)
|
rs370232097
|
0.00001
|
NM_001304438.2(TMEM132E):c.382G>T (p.Ala128Ser)
|
rs766225189
|
0.00001
|
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=)
|
rs762081862
|
0.00001
|
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter)
|
rs749475936
|
0.00001
|
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs)
|
rs1410766981
|
0.00001
|
NM_001329943.3(KIAA0586):c.3097dup (p.Ala1033fs)
|
rs1364954371
|
0.00001
|
NM_001329943.3(KIAA0586):c.3700del (p.Val1234fs)
|
rs1253807820
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3777del
|
rs1237632090
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3785A>T
|
rs942756021
|
0.00001
|
NM_001351132.2(PEX5):c.1255C>T (p.Gln419Ter)
|
rs1300934931
|
0.00001
|
NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter)
|
rs777735499
|
0.00001
|
NM_001351132.2(PEX5):c.583C>T (p.Gln195Ter)
|
rs890363450
|
0.00001
|
NM_001351132.2(PEX5):c.709C>T (p.Arg237Ter)
|
rs777733574
|
0.00001
|
NM_001374623.1(PNPLA1):c.100G>A (p.Ala34Thr)
|
rs1182312612
|
0.00001
|
NM_001374623.1(PNPLA1):c.335C>A (p.Ser112Tyr)
|
rs369445146
|
0.00001
|
NM_001374623.1(PNPLA1):c.464C>T (p.Pro155Leu)
|
rs766188849
|
0.00001
|
NM_001374623.1(PNPLA1):c.496C>T (p.Arg166Cys)
|
rs372072356
|
0.00001
|
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu)
|
rs376245108
|
0.00001
|
NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter)
|
rs1674604760
|
0.00001
|
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)
|
rs1275113273
|
0.00001
|
NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter)
|
rs192823093
|
0.00001
|
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp)
|
rs1250097723
|
0.00001
|
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)
|
rs1192396248
|
0.00001
|
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)
|
rs1674967197
|
0.00001
|
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs)
|
rs398122992
|
0.00001
|
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter)
|
rs940576720
|
0.00001
|
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs)
|
rs760264695
|
0.00001
|
NM_001378454.1(ALMS1):c.11668+1G>A
|
rs1181992959
|
0.00001
|
NM_001378454.1(ALMS1):c.11669-1G>C
|
rs750737346
|
0.00001
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)
|
rs1490504758
|
0.00001
|
NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter)
|
rs568037602
|
0.00001
|
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)
|
rs539612316
|
0.00001
|
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)
|
rs750326619
|
0.00001
|
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs)
|
rs878854998
|
0.00001
|
NM_001378454.1(ALMS1):c.3576C>G (p.Tyr1192Ter)
|
rs1671899045
|
0.00001
|
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs)
|
rs753301358
|
0.00001
|
NM_001378454.1(ALMS1):c.3649A>T (p.Lys1217Ter)
|
rs779928593
|
0.00001
|
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter)
|
rs1392057115
|
0.00001
|
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs)
|
rs1296683633
|
0.00001
|
NM_001378454.1(ALMS1):c.4180C>T (p.Gln1394Ter)
|
rs969786171
|
0.00001
|
NM_001378454.1(ALMS1):c.4544del (p.Ala1515fs)
|
rs745461983
|
0.00001
|
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter)
|
rs1558649531
|
0.00001
|
NM_001378454.1(ALMS1):c.4888C>T (p.Gln1630Ter)
|
rs974309886
|
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.5903C>G (p.Ser1968Ter)
|
rs1490127694
|
0.00001
|
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)
|
rs771994237
|
0.00001
|
NM_001378454.1(ALMS1):c.61G>T (p.Glu21Ter)
|
rs1438410766
|
0.00001
|
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter)
|
rs761071372
|
0.00001
|
NM_001378454.1(ALMS1):c.6826C>T (p.Arg2276Ter)
|
rs1238145717
|
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.7399G>T (p.Glu2467Ter)
|
rs1198051503
|
0.00001
|
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter)
|
rs1303829798
|
0.00001
|
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs)
|
rs748892226
|
0.00001
|
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)
|
rs776563011
|
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.2391-2A>G
|
rs374272301
|
0.00001
|
NM_001378609.3(OTOGL):c.5265+5G>A
|
rs902734999
|
0.00001
|
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
|
rs781252161
|
0.00001
|
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)
|
rs118204053
|
0.00001
|
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)
|
rs773881370
|
0.00001
|
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala)
|
rs863225173
|
0.00001
|
NM_001378615.1(CC2D2A):c.3452T>C (p.Val1151Ala)
|
rs863225170
|
0.00001
|
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)
|
rs763486732
|
0.00001
|
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)
|
rs118204052
|
0.00001
|
NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val)
|
rs778858648
|
0.00001
|
NM_001378615.1(CC2D2A):c.4741A>G (p.Thr1581Ala)
|
rs863225174
|
0.00001
|
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter)
|
rs775285273
|
0.00001
|
NM_001382391.1(CSPP1):c.1697+1G>T
|
rs863225193
|
0.00001
|
NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter)
|
rs1225726214
|
0.00001
|
NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter)
|
rs1380418532
|
0.00001
|
NM_001382391.1(CSPP1):c.2968+1G>T
|
rs587777142
|
0.00001
|
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter)
|
rs760275528
|
0.00001
|
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter)
|
rs774703929
|
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.2419dup (p.Ile807fs)
|
rs781148814
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)
|
rs754391973
|
0.00001
|
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)
|
rs773404494
|
0.00001
|
NM_001384140.1(PCDH15):c.3373+1G>A
|
rs2085799827
|
0.00001
|
NM_001384140.1(PCDH15):c.3983+1G>T
|
rs758921360
|
0.00001
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_001384140.1(PCDH15):c.92-528C>T
|
rs190773725
|
0.00001
|
NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter)
|
rs121918370
|
0.00001
|
NM_001384474.1(LOXHD1):c.3061C>T (p.Arg1021Ter)
|
rs963520367
|
0.00001
|
NM_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter)
|
rs727505104
|
0.00001
|
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)
|
rs961865375
|
0.00001
|
NM_001386140.1(MTTP):c.1392del (p.Glu465fs)
|
rs1725827570
|
0.00001
|
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter)
|
rs199422219
|
0.00001
|
NM_001386140.1(MTTP):c.1867+5G>A
|
rs1429774833
|
0.00001
|
NM_001393500.2(TOMT):c.143G>A (p.Arg48Gln)
|
rs137853185
|
0.00001
|
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
NM_001692.4(ATP6V1B1):c.1248+1G>C
|
rs1553420702
|
0.00001
|
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter)
|
rs782138777
|
0.00001
|
NM_001692.4(ATP6V1B1):c.469C>T (p.Arg157Cys)
|
rs782500780
|
0.00001
|
NM_001692.4(ATP6V1B1):c.497del (p.Thr166fs)
|
rs782152033
|
0.00001
|
NM_001692.4(ATP6V1B1):c.785+1G>A
|
rs727504746
|
0.00001
|
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys)
|
rs104894211
|
0.00001
|
NM_001814.6(CTSC):c.1A>G (p.Met1Val)
|
rs886048742
|
0.00001
|
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg)
|
rs104894208
|
0.00001
|
NM_001983.4(ERCC1):c.121C>T (p.Arg41Ter)
|
rs867518898
|
0.00001
|
NM_002161.6(IARS1):c.1252C>T (p.Arg418Ter)
|
rs764500338
|
0.00001
|
NM_002161.6(IARS1):c.2215C>T (p.Arg739Cys)
|
rs747311061
|
0.00001
|
NM_002161.6(IARS1):c.760C>T (p.Arg254Ter)
|
rs886037875
|
0.00001
|
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)
|
rs886043773
|
0.00001
|
NM_002180.3(IGHMBP2):c.1061-2A>G
|
rs1424522130
|
0.00001
|
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr)
|
rs760811074
|
0.00001
|
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg)
|
rs1347461335
|
0.00001
|
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn)
|
rs779654686
|
0.00001
|
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541
|
0.00001
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)
|
rs137852665
|
0.00001
|
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)
|
rs1479493690
|
0.00001
|
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter)
|
rs991227431
|
0.00001
|
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)
|
rs199839840
|
0.00001
|
NM_002180.3(IGHMBP2):c.2611+1G>T
|
rs786205090
|
0.00001
|
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)
|
rs1324667543
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+1G>A
|
rs1057518588
|
0.00001
|
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter)
|
rs137852669
|
0.00001
|
NM_002180.3(IGHMBP2):c.711+1G>C
|
rs774079947
|
0.00001
|
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)
|
rs773690764
|
0.00001
|
NM_002230.4(JUP):c.343C>T (p.Arg115Ter)
|
rs782203227
|
0.00001
|
NM_002230.4(JUP):c.794G>A (p.Arg265His)
|
rs782440692
|
0.00001
|
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val)
|
rs137853070
|
0.00001
|
NM_002292.4(LAMB2):c.1390_1391insA (p.Arg464fs)
|
rs1560075930
|
0.00001
|
NM_002292.4(LAMB2):c.1564del (p.Cys522fs)
|
rs1377725272
|
0.00001
|
NM_002292.4(LAMB2):c.1648C>T (p.Arg550Ter)
|
rs1218889239
|
0.00001
|
NM_002292.4(LAMB2):c.4201del (p.Ser1401fs)
|
rs754137583
|
0.00001
|
NM_002292.4(LAMB2):c.440A>G (p.His147Arg)
|
rs387906644
|
0.00001
|
NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter)
|
rs376983109
|
0.00001
|
NM_002292.4(LAMB2):c.4762C>T (p.Gln1588Ter)
|
rs775456607
|
0.00001
|
NM_002292.4(LAMB2):c.4804del (p.Gln1602fs)
|
rs769399002
|
0.00001
|
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)
|
rs121912488
|
0.00001
|
NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter)
|
rs121908667
|
0.00001
|
NM_002335.4(LRP5):c.2737dup (p.Cys913fs)
|
rs886043590
|
0.00001
|
NM_002335.4(LRP5):c.442C>T (p.Gln148Ter)
|
rs1396340484
|
0.00001
|
NM_002335.4(LRP5):c.731C>T (p.Thr244Met)
|
rs397514665
|
0.00001
|
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter)
|
rs1421007019
|
0.00001
|
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
|
rs137853062
|
0.00001
|
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)
|
rs1293600145
|
0.00001
|
NM_002454.3(MTRR):c.230del (p.Gln77fs)
|
rs1408257020
|
0.00001
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00001
|
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)
|
rs1353165398
|
0.00001
|
NM_002473.6(MYH9):c.5137A>G (p.Ser1713Gly)
|
rs764139009
|
0.00001
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.1124G>A (p.Trp375Ter)
|
rs1394437421
|
0.00001
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
NM_002485.5(NBN):c.123del (p.Ser42fs)
|
rs587781891
|
0.00001
|
NM_002485.5(NBN):c.1716dup (p.Glu573fs)
|
rs1060503483
|
0.00001
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)
|
rs1554568427
|
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.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_002485.5(NBN):c.7A>T (p.Lys3Ter)
|
rs779098734
|
0.00001
|
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)
|
rs786205135
|
0.00001
|
NM_002617.4(PEX10):c.211G>T (p.Glu71Ter)
|
rs1291325133
|
0.00001
|
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)
|
rs61750434
|
0.00001
|
NM_002618.4(PEX13):c.201dup (p.Val68fs)
|
rs1288976071
|
0.00001
|
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter)
|
rs369851185
|
0.00001
|
NM_002618.4(PEX13):c.46C>T (p.Arg16Ter)
|
rs1178588746
|
0.00001
|
NM_002618.4(PEX13):c.939G>A (p.Trp313Ter)
|
rs1428782325
|
0.00001
|
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)
|
rs1254855971
|
0.00001
|
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)
|
rs769827124
|
0.00001
|
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)
|
rs769410130
|
0.00001
|
NM_002857.4(PEX19):c.398dup (p.Ser134fs)
|
rs1240816309
|
0.00001
|
NM_002860.4(ALDH18A1):c.1923+1G>A
|
rs863223315
|
0.00001
|
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)
|
rs748925635
|
0.00001
|
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro)
|
rs765380273
|
0.00001
|
NM_002906.4(RDX):c.698+1G>A
|
rs1191259480
|
0.00001
|
NM_003052.5(SLC34A1):c.1006+1G>A
|
rs200095793
|
0.00001
|
NM_003332.4(TYROBP):c.141del (p.Met48fs)
|
rs386833840
|
0.00001
|
NM_003383.5(VLDLR):c.83-1G>A
|
rs770269674
|
0.00001
|
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs)
|
rs892468166
|
0.00001
|
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)
|
rs772263867
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)
|
rs387906830
|
0.00001
|
NM_003384.3(VRK1):c.6del (p.Arg3fs)
|
rs780789145
|
0.00001
|
NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer)
|
rs752086581
|
0.00001
|
NM_003504.5(CDC45):c.318C>T (p.Val106=)
|
rs745800041
|
0.00001
|
NM_003573.2(LTBP4):c.76-1G>A
|
rs781735457
|
0.00001
|
NM_003630.3(PEX3):c.17G>A (p.Trp6Ter)
|
rs1243154971
|
0.00001
|
NM_003630.3(PEX3):c.898C>T (p.Arg300Ter)
|
rs201179294
|
0.00001
|
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg)
|
rs1057523689
|
0.00001
|
NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter)
|
rs777112652
|
0.00001
|
NM_003672.4(CDC14A):c.417C>G (p.Tyr139Ter)
|
rs771622183
|
0.00001
|
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)
|
rs104894655
|
0.00001
|
NM_003801.4(GPAA1):c.619del (p.Met207fs)
|
rs782615259
|
0.00001
|
NM_003805.5(CRADD):c.508C>T (p.Arg170Cys)
|
rs749655461
|
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_003846.3(PEX11B):c.64C>T (p.Gln22Ter)
|
rs397515419
|
0.00001
|
NM_003896.4(ST3GAL5):c.147G>A (p.Trp49Ter)
|
rs778265926
|
0.00001
|
NM_003896.4(ST3GAL5):c.333T>G (p.Tyr111Ter)
|
rs368298013
|
0.00001
|
NM_003896.4(ST3GAL5):c.601G>A (p.Gly201Arg)
|
rs771732955
|
0.00001
|
NM_003937.3(KYNU):c.788A>G (p.His263Arg)
|
rs1458654786
|
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.246C>G (p.Ile82Met)
|
rs781534323
|
0.00001
|
NM_004004.6(GJB2):c.269dup (p.Val91fs)
|
rs730880338
|
0.00001
|
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)
|
rs397516873
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)
|
rs774518779
|
0.00001
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
NM_004056.6(CA8):c.710G>A (p.Arg237Gln)
|
rs387906598
|
0.00001
|
NM_004086.3(COCH):c.1535T>C (p.Met512Thr)
|
rs121908934
|
0.00001
|
NM_004134.7(HSPA9):c.409_410del (p.Asp136_Ile137insTer)
|
rs763817505
|
0.00001
|
NM_004153.4(ORC1):c.217G>A (p.Glu73Lys)
|
rs373671398
|
0.00001
|
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser)
|
rs387906827
|
0.00001
|
NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter)
|
rs1406641581
|
0.00001
|
NM_004525.3(LRP2):c.2639+1G>A
|
rs746752313
|
0.00001
|
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)
|
rs770931044
|
0.00001
|
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)
|
rs267607016
|
0.00001
|
NM_004614.5(TK2):c.133C>T (p.Gln45Ter)
|
rs281865486
|
0.00001
|
NM_004614.5(TK2):c.173A>G (p.Asn58Ser)
|
rs138439950
|
0.00001
|
NM_004614.5(TK2):c.562A>G (p.Thr188Ala)
|
rs281865495
|
0.00001
|
NM_004700.4(KCNQ4):c.2039C>T (p.Ser680Phe)
|
rs772135867
|
0.00001
|
NM_004700.4(KCNQ4):c.725G>A (p.Trp242Ter)
|
rs1648206560
|
0.00001
|
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)
|
rs80358277
|
0.00001
|
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)
|
rs28939710
|
0.00001
|
NM_004813.4(PEX16):c.451C>T (p.Gln151Ter)
|
rs1218545995
|
0.00001
|
NM_004813.4(PEX16):c.526C>T (p.Arg176Ter)
|
rs61752117
|
0.00001
|
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)
|
rs769772100
|
0.00001
|
NM_004830.4(MED23):c.1832G>A (p.Arg611Gln)
|
rs370667926
|
0.00001
|
NM_004830.4(MED23):c.382G>A (p.Gly128Arg)
|
rs569927513
|
0.00001
|
NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter)
|
rs1178109063
|
0.00001
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004937.3(CTNS):c.462-10C>T
|
rs765481486
|
0.00001
|
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)
|
rs113994208
|
0.00001
|
NM_004937.3(CTNS):c.646dup (p.Thr216fs)
|
rs893207601
|
0.00001
|
NM_004937.3(CTNS):c.668del (p.Cys223fs)
|
rs770145986
|
0.00001
|
NM_004937.3(CTNS):c.681+1G>A
|
rs749317721
|
0.00001
|
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)
|
rs746307931
|
0.00001
|
NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter)
|
rs121912558
|
0.00001
|
NM_004999.4(MYO6):c.647A>T (p.Glu216Val)
|
rs121912559
|
0.00001
|
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter)
|
rs121912672
|
0.00001
|
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter)
|
rs121912671
|
0.00001
|
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg)
|
rs765746795
|
0.00001
|
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)
|
rs121912670
|
0.00001
|
NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter)
|
rs2099895754
|
0.00001
|
NM_005219.5(DIAPH1):c.3022C>T (p.Arg1008Ter)
|
rs1461242879
|
0.00001
|
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter)
|
rs762738968
|
0.00001
|
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter)
|
rs397509404
|
0.00001
|
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)
|
rs2020959
|
0.00001
|
NM_005419.4(STAT2):c.442C>T (p.Arg148Trp)
|
rs1458224681
|
0.00001
|
NM_005419.4(STAT2):c.443G>A (p.Arg148Gln)
|
rs1879360038
|
0.00001
|
NM_005422.4(TECTA):c.2887G>A (p.Ala963Thr)
|
rs753896285
|
0.00001
|
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)
|
rs140236996
|
0.00001
|
NM_005529.7(HSPG2):c.8316+1G>A
|
rs927473035
|
0.00001
|
NM_005687.5(FARSB):c.755T>C (p.Phe252Ser)
|
rs1466642025
|
0.00001
|
NM_005687.5(FARSB):c.914G>A (p.Arg305Gln)
|
rs773579570
|
0.00001
|
NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile)
|
rs1131692170
|
0.00001
|
NM_005807.6(PRG4):c.1910_1911del (p.Pro637fs)
|
rs780281715
|
0.00001
|
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter)
|
rs1406678014
|
0.00001
|
NM_005861.4(STUB1):c.719T>C (p.Met240Thr)
|
rs587777345
|
0.00001
|
NM_005881.4(BCKDK):c.1159C>T (p.Gln387Ter)
|
rs1035318937
|
0.00001
|
NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter)
|
rs397514573
|
0.00001
|
NM_005916.5(MCM7):c.1616A>G (p.Tyr539Cys)
|
rs778583017
|
0.00001
|
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)
|
rs28937892
|
0.00001
|
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp)
|
rs28937895
|
0.00001
|
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter)
|
rs747658523
|
0.00001
|
NM_006017.3(PROM1):c.1984-1G>T
|
rs373680665
|
0.00001
|
NM_006019.4(TCIRG1):c.-5+1G>T
|
rs917505107
|
0.00001
|
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter)
|
rs1489993984
|
0.00001
|
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)
|
rs777785526
|
0.00001
|
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)
|
rs200851583
|
0.00001
|
NM_006019.4(TCIRG1):c.1674G>A (p.Val558=)
|
rs745971874
|
0.00001
|
NM_006019.4(TCIRG1):c.196+5G>A
|
rs1470999303
|
0.00001
|
NM_006019.4(TCIRG1):c.2014-1G>A
|
rs1197237618
|
0.00001
|
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)
|
rs1338631330
|
0.00001
|
NM_006019.4(TCIRG1):c.630G>A (p.Thr210=)
|
rs1293760338
|
0.00001
|
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)
|
rs749361897
|
0.00001
|
NM_006118.4(HAX1):c.337G>T (p.Glu113Ter)
|
rs374758765
|
0.00001
|
NM_006118.4(HAX1):c.407del (p.His136fs)
|
rs748595772
|
0.00001
|
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)
|
rs373044722
|
0.00001
|
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter)
|
rs1782357136
|
0.00001
|
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)
|
rs1201878175
|
0.00001
|
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter)
|
rs1195818093
|
0.00001
|
NM_006331.8(EMG1):c.257A>G (p.Asp86Gly)
|
rs74435397
|
0.00001
|
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)
|
rs397515480
|
0.00001
|
NM_006432.5(NPC2):c.115G>A (p.Val39Met)
|
rs80358261
|
0.00001
|
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter)
|
rs80358263
|
0.00001
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg)
|
rs80358264
|
0.00001
|
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)
|
rs104894458
|
0.00001
|
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu)
|
rs370564476
|
0.00001
|
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)
|
rs1558498928
|
0.00001
|
NM_006642.5(SDCCAG8):c.1717C>T (p.Gln573Ter)
|
rs1286714661
|
0.00001
|
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)
|
rs797045947
|
0.00001
|
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter)
|
rs267607031
|
0.00001
|
NM_006736.6(DNAJB2):c.394C>T (p.Arg132Ter)
|
rs1182614290
|
0.00001
|
NM_006739.4(MCM5):c.850_851del (p.Arg284fs)
|
rs760621295
|
0.00001
|
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)
|
rs912546325
|
0.00001
|
NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys)
|
rs387906889
|
0.00001
|
NM_006828.4(ASCC3):c.5693A>G (p.His1898Arg)
|
rs1381176199
|
0.00001
|
NM_006846.4(SPINK5):c.2240+1G>A
|
rs775341740
|
0.00001
|
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)
|
rs753621591
|
0.00001
|
NM_006846.4(SPINK5):c.67A>T (p.Lys23Ter)
|
rs1482249008
|
0.00001
|
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr)
|
rs121908943
|
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.356G>A (p.Arg119His)
|
rs121918377
|
0.00001
|
NM_006907.4(PYCR1):c.59dup (p.Ala21fs)
|
rs762218403
|
0.00001
|
NM_006907.4(PYCR1):c.722C>T (p.Ala241Val)
|
rs770505872
|
0.00001
|
NM_006907.4(PYCR1):c.728A>G (p.His243Arg)
|
rs2041098364
|
0.00001
|
NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu)
|
rs281875319
|
0.00001
|
NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu)
|
rs121908540
|
0.00001
|
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp)
|
rs28937595
|
0.00001
|
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)
|
rs749314857
|
0.00001
|
NM_007254.4(PNKP):c.148C>G (p.Gln50Glu)
|
rs756746191
|
0.00001
|
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)
|
rs782269909
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_012205.3(HAAO):c.323G>A (p.Arg108Gln)
|
rs1363954556
|
0.00001
|
NM_012205.3(HAAO):c.483dup (p.Asp162Ter)
|
rs527656756
|
0.00001
|
NM_012208.4(HARS2):c.647G>A (p.Arg216Gln)
|
rs1229581230
|
0.00001
|
NM_012208.4(HARS2):c.697C>T (p.Arg233Cys)
|
rs749799529
|
0.00001
|
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)
|
rs111033570
|
0.00001
|
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter)
|
rs199664043
|
0.00001
|
NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser)
|
rs111033571
|
0.00001
|
NM_012210.4(TRIM32):c.678C>A (p.Tyr226Ter)
|
rs398124253
|
0.00001
|
NM_012210.4(TRIM32):c.691del (p.Ala231fs)
|
rs747685252
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)
|
rs766629205
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)
|
rs532964185
|
0.00001
|
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)
|
rs764260054
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)
|
rs587777167
|
0.00001
|
NM_012448.4(STAT5B):c.1433C>T (p.Ala478Val)
|
rs1555548678
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1514+1G>A
|
rs374480381
|
0.00001
|
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)
|
rs80356750
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)
|
rs80356758
|
0.00001
|
NM_013322.3(SNX10):c.152G>A (p.Arg51Gln)
|
rs398123011
|
0.00001
|
NM_013322.3(SNX10):c.46C>T (p.Arg16Ter)
|
rs587777490
|
0.00001
|
NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter)
|
rs397518460
|
0.00001
|
NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter)
|
rs773017813
|
0.00001
|
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter)
|
rs368817785
|
0.00001
|
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter)
|
rs766169193
|
0.00001
|
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)
|
rs119463989
|
0.00001
|
NM_013382.7(POMT2):c.248+1G>C
|
rs961440747
|
0.00001
|
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter)
|
rs764878423
|
0.00001
|
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter)
|
rs775932206
|
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.11707C>T (p.Arg3903Ter)
|
rs774906736
|
0.00001
|
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)
|
rs769212398
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
NM_014363.6(SACS):c.3066del (p.Asn1025fs)
|
rs1057516767
|
0.00001
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)
|
rs755824618
|
0.00001
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)
|
rs780184251
|
0.00001
|
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)
|
rs773182375
|
0.00001
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)
|
rs886041949
|
0.00001
|
NM_014396.4(VPS41):c.1423-2A>G
|
rs1220530084
|
0.00001
|
NM_014396.4(VPS41):c.853T>C (p.Ser285Pro)
|
rs544223875
|
0.00001
|
NM_014425.5(INVS):c.1078+1G>A
|
rs375416014
|
0.00001
|
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter)
|
rs773049314
|
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.1807C>T (p.Arg603Ter)
|
rs121964994
|
0.00001
|
NM_014425.5(INVS):c.2786+1G>A
|
rs935629850
|
0.00001
|
NM_014425.5(INVS):c.464G>A (p.Trp155Ter)
|
rs1007394906
|
0.00001
|
NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu)
|
rs1417500285
|
0.00001
|
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter)
|
rs746333044
|
0.00001
|
NM_014780.5(CUL7):c.3379_3380del (p.Trp1127fs)
|
rs730880262
|
0.00001
|
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter)
|
rs748555538
|
0.00001
|
NM_014780.5(CUL7):c.4391A>C (p.His1464Pro)
|
rs121918229
|
0.00001
|
NM_014797.3(ZBTB24):c.1192C>T (p.Arg398Ter)
|
rs867580676
|
0.00001
|
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter)
|
rs387907106
|
0.00001
|
NM_014889.4(PITRM1):c.548G>A (p.Arg183Gln)
|
rs1249144069
|
0.00001
|
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter)
|
rs765277720
|
0.00001
|
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)
|
rs774951398
|
0.00001
|
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)
|
rs387907310
|
0.00001
|
NM_014994.3(MAPKBP1):c.1300C>T (p.Arg434Ter)
|
rs202001274
|
0.00001
|
NM_014994.3(MAPKBP1):c.4375C>T (p.Arg1459Ter)
|
rs1057519304
|
0.00001
|
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe)
|
rs751218423
|
0.00001
|
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)
|
rs121434376
|
0.00001
|
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)
|
rs1391764195
|
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.6620A>T (p.Asp2207Val)
|
rs1564482221
|
0.00001
|
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)
|
rs1331217337
|
0.00001
|
NM_015046.7(SETX):c.820A>G (p.Met274Val)
|
rs753713810
|
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.1228C>T (p.Gln410Ter)
|
rs1237376396
|
0.00001
|
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)
|
rs1025515771
|
0.00001
|
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter)
|
rs137852920
|
0.00001
|
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter)
|
rs775612958
|
0.00001
|
NM_015102.5(NPHP4):c.685C>T (p.Arg229Ter)
|
rs780268322
|
0.00001
|
NM_015114.3(ANKLE2):c.1606C>T (p.Arg536Cys)
|
rs761627940
|
0.00001
|
NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter)
|
rs201785518
|
0.00001
|
NM_015160.3(PMPCA):c.1408+1G>A
|
rs753895120
|
0.00001
|
NM_015160.3(PMPCA):c.1543G>A (p.Gly515Arg)
|
rs869025293
|
0.00001
|
NM_015160.3(PMPCA):c.766G>A (p.Val256Met)
|
rs746549806
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)
|
rs145665129
|
0.00001
|
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter)
|
rs386834001
|
0.00001
|
NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter)
|
rs373520509
|
0.00001
|
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn)
|
rs386834008
|
0.00001
|
NM_015340.4(LARS2):c.1670A>G (p.Tyr557Cys)
|
rs1269970737
|
0.00001
|
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met)
|
rs398123036
|
0.00001
|
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp)
|
rs774649299
|
0.00001
|
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys)
|
rs749627411
|
0.00001
|
NM_015340.4(LARS2):c.899C>T (p.Thr300Met)
|
rs864309642
|
0.00001
|
NM_015378.4(VPS13D):c.12629C>T (p.Ala4210Val)
|
rs746736545
|
0.00001
|
NM_015474.4(SAMHD1):c.1368T>G (p.Tyr456Ter)
|
rs769561543
|
0.00001
|
NM_015474.4(SAMHD1):c.1411-2A>G
|
rs515726141
|
0.00001
|
NM_015474.4(SAMHD1):c.1609-1G>T
|
rs515726143
|
0.00001
|
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter)
|
rs121434519
|
0.00001
|
NM_015474.4(SAMHD1):c.316C>T (p.Arg106Ter)
|
rs779028596
|
0.00001
|
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro)
|
rs121434520
|
0.00001
|
NM_015474.4(SAMHD1):c.400C>T (p.Arg134Ter)
|
rs752442185
|
0.00001
|
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)
|
rs387906948
|
0.00001
|
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His)
|
rs369035155
|
0.00001
|
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)
|
rs121434517
|
0.00001
|
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)
|
rs267607027
|
0.00001
|
NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter)
|
rs1300333132
|
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.649_650insG (p.Phe217fs)
|
rs515726146
|
0.00001
|
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter)
|
rs1335417539
|
0.00001
|
NM_015602.4(TOR1AIP1):c.149C>A (p.Ser50Ter)
|
rs374232191
|
0.00001
|
NM_015602.4(TOR1AIP1):c.646G>T (p.Glu216Ter)
|
rs778326858
|
0.00001
|
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)
|
rs793888508
|
0.00001
|
NM_015650.4(TRAF3IP1):c.1559T>G (p.Met520Arg)
|
rs750055952
|
0.00001
|
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)
|
rs144645349
|
0.00001
|
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)
|
rs750338419
|
0.00001
|
NM_015665.6(AAAS):c.1087+1G>A
|
rs1035139364
|
0.00001
|
NM_015665.6(AAAS):c.355C>T (p.Arg119Ter)
|
rs754078574
|
0.00001
|
NM_015665.6(AAAS):c.464G>A (p.Arg155His)
|
rs758440592
|
0.00001
|
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)
|
rs121918547
|
0.00001
|
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)
|
rs773601814
|
0.00001
|
NM_015702.3(MMADHC):c.154+1G>A
|
rs1385597423
|
0.00001
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
NM_015910.7(WDPCP):c.301C>T (p.Arg101Ter)
|
rs772536466
|
0.00001
|
NM_016004.5(IFT52):c.293A>G (p.Asn98Ser)
|
rs530999984
|
0.00001
|
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter)
|
rs748090019
|
0.00001
|
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr)
|
rs886037869
|
0.00001
|
NM_016038.4(SBDS):c.13del (p.Thr5fs)
|
rs772797192
|
0.00001
|
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)
|
rs1325914775
|
0.00001
|
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro)
|
rs387907195
|
0.00001
|
NM_016058.5(TPRKB):c.446A>G (p.Tyr149Cys)
|
rs1233885358
|
0.00001
|
NM_016122.3(CEP83):c.121C>T (p.Arg41Ter)
|
rs587777486
|
0.00001
|
NM_016122.3(CEP83):c.1451C>A (p.Ser484Ter)
|
rs777412559
|
0.00001
|
NM_016122.3(CEP83):c.1531C>T (p.Arg511Ter)
|
rs1162641847
|
0.00001
|
NM_016122.3(CEP83):c.1867C>T (p.Gln623Ter)
|
rs1198459012
|
0.00001
|
NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter)
|
rs1207804224
|
0.00001
|
NM_016122.3(CEP83):c.241C>T (p.Gln81Ter)
|
rs368619022
|
0.00001
|
NM_016122.3(CEP83):c.643C>T (p.Arg215Ter)
|
rs750092874
|
0.00001
|
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln)
|
rs770654508
|
0.00001
|
NM_016138.5(COQ7):c.3G>T (p.Met1Ile)
|
rs746489573
|
0.00001
|
NM_016194.4(GNB5):c.1120C>T (p.Arg374Ter)
|
rs773902879
|
0.00001
|
NM_016194.4(GNB5):c.375+3A>G
|
rs766004901
|
0.00001
|
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys)
|
rs387906885
|
0.00001
|
NM_016219.5(MAN1B1):c.172G>T (p.Glu58Ter)
|
rs753503405
|
0.00001
|
NM_016219.5(MAN1B1):c.484C>T (p.Gln162Ter)
|
rs1207589187
|
0.00001
|
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter)
|
rs1233145763
|
0.00001
|
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter)
|
rs781546107
|
0.00001
|
NM_016239.4(MYO15A):c.3866+1G>A
|
rs374742590
|
0.00001
|
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg)
|
rs753790346
|
0.00001
|
NM_016239.4(MYO15A):c.4322G>T (p.Gly1441Val)
|
rs772995303
|
0.00001
|
NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter)
|
rs765468034
|
0.00001
|
NM_016239.4(MYO15A):c.6956+9C>G
|
rs1482709090
|
0.00001
|
NM_016239.4(MYO15A):c.7396-1G>A
|
rs760461823
|
0.00001
|
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs)
|
rs1221876133
|
0.00001
|
NM_016239.4(MYO15A):c.8340+5G>A
|
rs752773977
|
0.00001
|
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=)
|
rs878853228
|
0.00001
|
NM_016239.4(MYO15A):c.8375T>C (p.Val2792Ala)
|
rs983107737
|
0.00001
|
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter)
|
rs768257384
|
0.00001
|
NM_016239.4(MYO15A):c.8968-1G>T
|
rs746051220
|
0.00001
|
NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter)
|
rs1330631412
|
0.00001
|
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter)
|
rs759523751
|
0.00001
|
NM_016302.4(CRBN):c.1255C>T (p.Arg419Ter)
|
rs121918368
|
0.00001
|
NM_016302.4(CRBN):c.433C>T (p.Arg145Ter)
|
rs1302797003
|
0.00001
|
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter)
|
rs1050411259
|
0.00001
|
NM_016366.3(CABP2):c.232G>A (p.Glu78Lys)
|
rs1391730624
|
0.00001
|
NM_016373.4(WWOX):c.172+1G>C
|
rs1377640182
|
0.00001
|
NM_016417.3(GLRX5):c.294A>G (p.Gln98=)
|
rs121908584
|
0.00001
|
NM_016417.3(GLRX5):c.383T>A (p.Met128Lys)
|
rs891111781
|
0.00001
|
NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser)
|
rs765487627
|
0.00001
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter)
|
rs146264153
|
0.00001
|
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)
|
rs1304109530
|
0.00001
|
NM_016529.6(ATP8A2):c.77-2A>G
|
rs373909734
|
0.00001
|
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)
|
rs193302867
|
0.00001
|
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter)
|
rs763944898
|
0.00001
|
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)
|
rs193302864
|
0.00001
|
NM_017686.4(GDAP2):c.1198_1199insG (p.His400fs)
|
rs547792505
|
0.00001
|
NM_017721.5(CC2D1A):c.2347C>T (p.Arg783Ter)
|
rs779620838
|
0.00001
|
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)
|
rs150877512
|
0.00001
|
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)
|
rs745343484
|
0.00001
|
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)
|
rs760705290
|
0.00001
|
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)
|
rs386834018
|
0.00001
|
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)
|
rs193919337
|
0.00001
|
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)
|
rs375431575
|
0.00001
|
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln)
|
rs770188918
|
0.00001
|
NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)
|
rs1048865247
|
0.00001
|
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
|
rs386834034
|
0.00001
|
NM_017739.4(POMGNT1):c.751+1G>A
|
rs1247668825
|
0.00001
|
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
|
rs386834039
|
0.00001
|
NM_017755.6(NSUN2):c.2035G>A (p.Gly679Arg)
|
rs587776908
|
0.00001
|
NM_017777.4(MKS1):c.191-1G>A
|
rs201362733
|
0.00001
|
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)
|
rs762482919
|
0.00001
|
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)
|
rs990955357
|
0.00001
|
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)
|
rs386834050
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr)
|
rs1443735811
|
0.00001
|
NM_017875.4(SLC25A38):c.277-2A>C
|
rs1198314410
|
0.00001
|
NM_017875.4(SLC25A38):c.389G>A (p.Gly130Glu)
|
rs762562272
|
0.00001
|
NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val)
|
rs755205622
|
0.00001
|
NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg)
|
rs1218815001
|
0.00001
|
NM_018063.5(HELLS):c.370+2T>A
|
rs140316223
|
0.00001
|
NM_018075.5(ANO10):c.1163-9A>G
|
rs1368543726
|
0.00001
|
NM_018075.5(ANO10):c.1219-1G>T
|
rs1318561721
|
0.00001
|
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer)
|
rs772345347
|
0.00001
|
NM_018109.4(MTPAP):c.1432A>G (p.Asn478Asp)
|
rs267606900
|
0.00001
|
NM_018131.5(CEP55):c.1274C>A (p.Ser425Ter)
|
rs201430235
|
0.00001
|
NM_018136.5(ASPM):c.10055_10056insGG (p.Ile3352fs)
|
rs754767041
|
0.00001
|
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter)
|
rs748529285
|
0.00001
|
NM_018136.5(ASPM):c.1530_1531del (p.Glu511fs)
|
rs1404276011
|
0.00001
|
NM_018136.5(ASPM):c.1789C>T (p.Arg597Ter)
|
rs759485449
|
0.00001
|
NM_018136.5(ASPM):c.2488-1G>C
|
rs1321892596
|
0.00001
|
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)
|
rs774338373
|
0.00001
|
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter)
|
rs199422161
|
0.00001
|
NM_018136.5(ASPM):c.3960_3961insA (p.Val1321fs)
|
rs759632528
|
0.00001
|
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter)
|
rs751326753
|
0.00001
|
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter)
|
rs772050241
|
0.00001
|
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter)
|
rs199422168
|
0.00001
|
NM_018136.5(ASPM):c.6997G>T (p.Glu2333Ter)
|
rs1334947797
|
0.00001
|
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter)
|
rs769364943
|
0.00001
|
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter)
|
rs587783275
|
0.00001
|
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs)
|
rs587783283
|
0.00001
|
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter)
|
rs587783292
|
0.00001
|
NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter)
|
rs77424753
|
0.00001
|
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)
|
rs199422194
|
0.00001
|
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter)
|
rs199422195
|
0.00001
|
NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg)
|
rs769220327
|
0.00001
|
NM_018249.6(CDK5RAP2):c.1279C>T (p.Arg427Ter)
|
rs774388179
|
0.00001
|
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter)
|
rs587783390
|
0.00001
|
NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter)
|
rs374351172
|
0.00001
|
NM_018249.6(CDK5RAP2):c.5227C>T (p.Gln1743Ter)
|
rs587783392
|
0.00001
|
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
|
rs773432002
|
0.00001
|
NM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter)
|
rs766512058
|
0.00001
|
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)
|
rs75895925
|
0.00001
|
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter)
|
rs797045450
|
0.00001
|
NM_018451.5(CENPJ):c.3448C>T (p.Gln1150Ter)
|
rs587783410
|
0.00001
|
NM_018669.6(WDR4):c.509G>A (p.Arg170Gln)
|
rs1292041526
|
0.00001
|
NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter)
|
rs387907110
|
0.00001
|
NM_018699.4(PRDM5):c.974del (p.Cys325fs)
|
rs766853150
|
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.377T>G (p.Val126Gly)
|
rs121908402
|
0.00001
|
NM_018965.4(TREM2):c.482+2T>C
|
rs386834144
|
0.00001
|
NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser)
|
rs769632836
|
0.00001
|
NM_018972.4(GDAP1):c.311-1G>A
|
rs1370011538
|
0.00001
|
NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter)
|
rs751986220
|
0.00001
|
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)
|
rs281865060
|
0.00001
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)
|
rs745663149
|
0.00001
|
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
|
rs538412810
|
0.00001
|
NM_018972.4(GDAP1):c.544C>T (p.Gln182Ter)
|
rs779894269
|
0.00001
|
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr)
|
rs778105019
|
0.00001
|
NM_018972.4(GDAP1):c.767A>G (p.His256Arg)
|
rs1476856429
|
0.00001
|
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)
|
rs770501034
|
0.00001
|
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)
|
rs28937906
|
0.00001
|
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)
|
rs1588830568
|
0.00001
|
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys)
|
rs119468008
|
0.00001
|
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp)
|
rs765235707
|
0.00001
|
NM_020247.5(COQ8A):c.589-3C>G
|
rs1229054489
|
0.00001
|
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)
|
rs119468005
|
0.00001
|
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)
|
rs515726136
|
0.00001
|
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)
|
rs759940113
|
0.00001
|
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter)
|
rs398124354
|
0.00001
|
NM_020366.4(RPGRIP1):c.2895+1G>T
|
rs748072501
|
0.00001
|
NM_020366.4(RPGRIP1):c.564A>G (p.Glu188=)
|
rs574462207
|
0.00001
|
NM_020366.4(RPGRIP1):c.800+1G>A
|
rs376500610
|
0.00001
|
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter)
|
rs749969789
|
0.00001
|
NM_020458.4(TTC7A):c.1616C>T (p.Ser539Leu)
|
rs776906926
|
0.00001
|
NM_020458.4(TTC7A):c.1621C>T (p.Gln541Ter)
|
rs765653721
|
0.00001
|
NM_020458.4(TTC7A):c.1783G>T (p.Glu595Ter)
|
rs201481224
|
0.00001
|
NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro)
|
rs587776972
|
0.00001
|
NM_020458.4(TTC7A):c.2494G>A (p.Ala832Thr)
|
rs876657393
|
0.00001
|
NM_020458.4(TTC7A):c.2515G>A (p.Ala839Thr)
|
rs202044972
|
0.00001
|
NM_020458.4(TTC7A):c.844-1G>T
|
rs777469885
|
0.00001
|
NM_020631.6(PLEKHG5):c.1132-2A>C
|
rs1557742277
|
0.00001
|
NM_020631.6(PLEKHG5):c.1289C>A (p.Ser430Ter)
|
rs1443592761
|
0.00001
|
NM_020631.6(PLEKHG5):c.1457_1482del (p.Gln486fs)
|
rs1266507622
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1571C>T (p.Pro524Leu)
|
rs121908368
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1691+1G>A
|
rs587776615
|
0.00001
|
NM_020632.3(ATP6V0A4):c.16C>T (p.Arg6Ter)
|
rs769417807
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2257+1G>A
|
rs145809731
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter)
|
rs121908367
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter)
|
rs769164245
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)
|
rs28939081
|
0.00001
|
NM_020661.4(AICDA):c.259T>C (p.Cys87Arg)
|
rs762590894
|
0.00001
|
NM_020661.4(AICDA):c.334C>T (p.Arg112Cys)
|
rs1057520542
|
0.00001
|
NM_020661.4(AICDA):c.441C>A (p.Cys147Ter)
|
rs104894323
|
0.00001
|
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val)
|
rs942522644
|
0.00001
|
NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter)
|
rs767751856
|
0.00001
|
NM_020779.4(WDR35):c.1468del (p.Gln490fs)
|
rs886044119
|
0.00001
|
NM_020779.4(WDR35):c.1559T>C (p.Leu520Pro)
|
rs397515533
|
0.00001
|
NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr)
|
rs267607175
|
0.00001
|
NM_020894.4(UVSSA):c.367A>T (p.Lys123Ter)
|
rs387907163
|
0.00001
|
NM_020894.4(UVSSA):c.94T>C (p.Cys32Arg)
|
rs387907164
|
0.00001
|
NM_020921.4(NIN):c.2482del (p.Arg828fs)
|
rs747680111
|
0.00001
|
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter)
|
rs961245497
|
0.00001
|
NM_020964.3(EPG5):c.1254del (p.Ser419fs)
|
rs2050902019
|
0.00001
|
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter)
|
rs866435487
|
0.00001
|
NM_020964.3(EPG5):c.2450C>A (p.Ser817Ter)
|
rs908790331
|
0.00001
|
NM_020964.3(EPG5):c.2461C>T (p.Arg821Ter)
|
rs759625169
|
0.00001
|
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter)
|
rs761554022
|
0.00001
|
NM_020964.3(EPG5):c.4327C>T (p.Gln1443Ter)
|
rs374321183
|
0.00001
|
NM_020964.3(EPG5):c.5653_5654del (p.Leu1885fs)
|
rs759930622
|
0.00001
|
NM_020964.3(EPG5):c.5869+1G>A
|
rs748670315
|
0.00001
|
NM_020964.3(EPG5):c.7057C>T (p.Gln2353Ter)
|
rs763931697
|
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_021252.5(RAB18):c.284C>G (p.Thr95Arg)
|
rs587777151
|
0.00001
|
NM_021628.3(ALOXE3):c.1786-2A>G
|
rs139375856
|
0.00001
|
NM_021628.3(ALOXE3):c.271G>T (p.Glu91Ter)
|
rs367827093
|
0.00001
|
NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter)
|
rs370031870
|
0.00001
|
NM_021628.3(ALOXE3):c.434G>A (p.Arg145His)
|
rs745480657
|
0.00001
|
NM_021628.3(ALOXE3):c.923T>C (p.Leu308Pro)
|
rs764052154
|
0.00001
|
NM_021628.3(ALOXE3):c.952dup (p.Leu318fs)
|
rs1472087421
|
0.00001
|
NM_021800.3(DNAJC12):c.158-2A>T
|
rs775029664
|
0.00001
|
NM_021800.3(DNAJC12):c.79-2A>G
|
rs1277990552
|
0.00001
|
NM_021800.3(DNAJC12):c.85del (p.Gln29fs)
|
rs770562664
|
0.00001
|
NM_021828.5(HPSE2):c.1099-1G>A
|
rs184270108
|
0.00001
|
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter)
|
rs267606866
|
0.00001
|
NM_021828.5(HPSE2):c.457C>T (p.Arg153Ter)
|
rs267606865
|
0.00001
|
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
|
rs556445621
|
0.00001
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly)
|
rs672601361
|
0.00001
|
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)
|
rs80356544
|
0.00001
|
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)
|
rs386834146
|
0.00001
|
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile)
|
rs369588002
|
0.00001
|
NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser)
|
rs672601360
|
0.00001
|
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr)
|
rs80356542
|
0.00001
|
NM_021942.6(TRAPPC11):c.100C>T (p.Arg34Ter)
|
rs569565392
|
0.00001
|
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)
|
rs397509417
|
0.00001
|
NM_021942.6(TRAPPC11):c.3193C>T (p.Arg1065Ter)
|
rs750976634
|
0.00001
|
NM_021971.4(GMPPB):c.1070G>A (p.Arg357His)
|
rs771861177
|
0.00001
|
NM_021971.4(GMPPB):c.294dup (p.Glu99Ter)
|
rs1365085828
|
0.00001
|
NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys)
|
rs145535498
|
0.00001
|
NM_021971.4(GMPPB):c.402+1G>A
|
rs145564018
|
0.00001
|
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)
|
rs397509425
|
0.00001
|
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu)
|
rs397509426
|
0.00001
|
NM_022089.4(ATP13A2):c.1345C>T (p.Arg449Ter)
|
rs1057519293
|
0.00001
|
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter)
|
rs1303653650
|
0.00001
|
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter)
|
rs1264582344
|
0.00001
|
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter)
|
rs2076949269
|
0.00001
|
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter)
|
rs866035312
|
0.00001
|
NM_022095.4(ZNF335):c.3346G>A (p.Gly1116Arg)
|
rs780393773
|
0.00001
|
NM_022098.4(XPNPEP3):c.645del (p.Ser216fs)
|
rs751910922
|
0.00001
|
NM_022124.6(CDH23):c.2289+1G>A
|
rs769433759
|
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.3428dup (p.His1143fs)
|
rs1253419936
|
0.00001
|
NM_022124.6(CDH23):c.4105-2A>T
|
rs1416386069
|
0.00001
|
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)
|
rs397517342
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)
|
rs121908354
|
0.00001
|
NM_022124.6(CDH23):c.7312G>A (p.Glu2438Lys)
|
rs1264310782
|
0.00001
|
NM_022124.6(CDH23):c.7362+5G>A
|
rs727502931
|
0.00001
|
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter)
|
rs1190307769
|
0.00001
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
NM_022336.4(EDAR):c.1124G>A (p.Arg375His)
|
rs121908454
|
0.00001
|
NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr)
|
rs1310296844
|
0.00001
|
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg)
|
rs121908451
|
0.00001
|
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys)
|
rs780424781
|
0.00001
|
NM_022336.4(EDAR):c.266G>A (p.Arg89His)
|
rs121908450
|
0.00001
|
NM_022336.4(EDAR):c.329A>C (p.Asp110Ala)
|
rs121908455
|
0.00001
|
NM_022336.4(EDAR):c.931G>T (p.Glu311Ter)
|
rs1432041144
|
0.00001
|
NM_022361.5(POPDC3):c.464T>A (p.Leu155His)
|
rs1311819000
|
0.00001
|
NM_022773.4(LMF1):c.1079-2A>C
|
rs769211813
|
0.00001
|
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter)
|
rs587777626
|
0.00001
|
NM_023077.3(COA7):c.410A>G (p.Tyr137Cys)
|
rs961876891
|
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.1486T>A (p.Ter496Arg)
|
rs104894682
|
0.00001
|
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)
|
rs104894692
|
0.00001
|
NM_024570.4(RNASEH2B):c.132T>A (p.Cys44Ter)
|
rs74876702
|
0.00001
|
NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter)
|
rs75326546
|
0.00001
|
NM_024570.4(RNASEH2B):c.488C>T (p.Thr163Ile)
|
rs79310911
|
0.00001
|
NM_024570.4(RNASEH2B):c.510+1G>A
|
rs77301371
|
0.00001
|
NM_024570.4(RNASEH2B):c.667G>T (p.Glu223Ter)
|
rs1555257383
|
0.00001
|
NM_024580.6(EFL1):c.2645T>A (p.Met882Lys)
|
rs1316615934
|
0.00001
|
NM_024580.6(EFL1):c.2908C>T (p.Arg970Cys)
|
rs757808847
|
0.00001
|
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala)
|
rs1441937959
|
0.00001
|
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)
|
rs398124401
|
0.00001
|
NM_024596.5(MCPH1):c.302C>G (p.Ser101Ter)
|
rs755862917
|
0.00001
|
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter)
|
rs121434305
|
0.00001
|
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter)
|
rs1160669210
|
0.00001
|
NM_024649.5(BBS1):c.118del (p.Cys40fs)
|
rs1490351829
|
0.00001
|
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)
|
rs1014835928
|
0.00001
|
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)
|
rs745656125
|
0.00001
|
NM_024649.5(BBS1):c.1473+4A>G
|
rs1486200900
|
0.00001
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
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.723+1G>C
|
rs1295318869
|
0.00001
|
NM_024649.5(BBS1):c.830G>A (p.Arg277Lys)
|
rs1856209517
|
0.00001
|
NM_024649.5(BBS1):c.851del (p.Tyr284fs)
|
rs587777830
|
0.00001
|
NM_024649.5(BBS1):c.890G>A (p.Arg297Gln)
|
rs372092113
|
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.1407T>G (p.Tyr469Ter)
|
rs1356713858
|
0.00001
|
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)
|
rs778431173
|
0.00001
|
NM_024685.4(BBS10):c.1839T>A (p.Tyr613Ter)
|
rs1951755742
|
0.00001
|
NM_024685.4(BBS10):c.340del (p.Gln114fs)
|
rs1191479533
|
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.1088-1G>C
|
rs753627675
|
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.2818C>T (p.Gln940Ter)
|
rs1489728717
|
0.00001
|
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter)
|
rs777162250
|
0.00001
|
NM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter)
|
rs143038880
|
0.00001
|
NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter)
|
rs755341613
|
0.00001
|
NM_024989.4(PGAP1):c.1952+1G>C
|
rs587777202
|
0.00001
|
NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs)
|
rs767774867
|
0.00001
|
NM_024989.4(PGAP1):c.927+1G>A
|
rs750079325
|
0.00001
|
NM_025009.5(CEP135):c.2722C>T (p.Arg908Ter)
|
rs186530606
|
0.00001
|
NM_025009.5(CEP135):c.2863C>T (p.Arg955Ter)
|
rs1730824213
|
0.00001
|
NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter)
|
rs775259788
|
0.00001
|
NM_025074.7(FRAS1):c.2010T>A (p.Cys670Ter)
|
rs1338479649
|
0.00001
|
NM_025074.7(FRAS1):c.2570G>T (p.Cys857Phe)
|
rs1399826348
|
0.00001
|
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter)
|
rs755750961
|
0.00001
|
NM_025074.7(FRAS1):c.2722+1G>A
|
rs794727365
|
0.00001
|
NM_025074.7(FRAS1):c.4111C>T (p.Gln1371Ter)
|
rs1732862637
|
0.00001
|
NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter)
|
rs753263924
|
0.00001
|
NM_025074.7(FRAS1):c.5134C>T (p.Arg1712Ter)
|
rs535527511
|
0.00001
|
NM_025074.7(FRAS1):c.547A>T (p.Arg183Ter)
|
rs372173451
|
0.00001
|
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser)
|
rs771251344
|
0.00001
|
NM_025074.7(FRAS1):c.619C>T (p.Arg207Ter)
|
rs748696533
|
0.00001
|
NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter)
|
rs1460031293
|
0.00001
|
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter)
|
rs745597204
|
0.00001
|
NM_025074.7(FRAS1):c.9316+2T>A
|
rs1358085095
|
0.00001
|
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter)
|
rs1278679056
|
0.00001
|
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter)
|
rs763559949
|
0.00001
|
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)
|
rs1186821575
|
0.00001
|
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)
|
rs760415289
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)
|
rs748034744
|
0.00001
|
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
|
rs762633090
|
0.00001
|
NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter)
|
rs903257336
|
0.00001
|
NM_025114.4(CEP290):c.297+1G>T
|
rs878853360
|
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.3104-5T>G
|
rs1302558061
|
0.00001
|
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter)
|
rs1267970567
|
0.00001
|
NM_025114.4(CEP290):c.3185del (p.Leu1062fs)
|
rs863225189
|
0.00001
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
NM_025114.4(CEP290):c.3573+2T>C
|
rs1219277452
|
0.00001
|
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)
|
rs1468942944
|
0.00001
|
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)
|
rs1412133967
|
0.00001
|
NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter)
|
rs1417251616
|
0.00001
|
NM_025114.4(CEP290):c.3G>A (p.Met1Ile)
|
rs773525033
|
0.00001
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)
|
rs757641323
|
0.00001
|
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter)
|
rs746305733
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_025114.4(CEP290):c.5163del (p.Thr1722fs)
|
rs1565827171
|
0.00001
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
0.00001
|
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)
|
rs371525247
|
0.00001
|
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)
|
rs767426153
|
0.00001
|
NM_025114.4(CEP290):c.6012-2A>G
|
rs555755221
|
0.00001
|
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)
|
rs750073051
|
0.00001
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)
|
rs1375836634
|
0.00001
|
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)
|
rs1374014119
|
0.00001
|
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs)
|
rs778907433
|
0.00001
|
NM_025132.4(WDR19):c.1477G>C (p.Asp493His)
|
rs587777349
|
0.00001
|
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)
|
rs771148519
|
0.00001
|
NM_025132.4(WDR19):c.275T>G (p.Leu92Ter)
|
rs926405916
|
0.00001
|
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)
|
rs587777351
|
0.00001
|
NM_025132.4(WDR19):c.388C>T (p.Arg130Ter)
|
rs778039192
|
0.00001
|
NM_025216.3(WNT10A):c.1079G>T (p.Arg360Leu)
|
rs893127185
|
0.00001
|
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys)
|
rs318240759
|
0.00001
|
NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys)
|
rs764658964
|
0.00001
|
NM_025216.3(WNT10A):c.627G>A (p.Trp209Ter)
|
rs1306584103
|
0.00001
|
NM_025216.3(WNT10A):c.632G>A (p.Trp211Ter)
|
rs1156948793
|
0.00001
|
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg)
|
rs775380022
|
0.00001
|
NM_025216.3(WNT10A):c.664G>T (p.Glu222Ter)
|
rs377416834
|
0.00001
|
NM_025216.3(WNT10A):c.910A>C (p.Asn304His)
|
rs1434390821
|
0.00001
|
NM_025216.3(WNT10A):c.932del (p.Glu311fs)
|
rs1559416138
|
0.00001
|
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg)
|
rs1487082103
|
0.00001
|
NM_030928.4(CDT1):c.196G>A (p.Ala66Thr)
|
rs387906918
|
0.00001
|
NM_031471.6(FERMT3):c.1275del (p.Glu426fs)
|
rs775138431
|
0.00001
|
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter)
|
rs121918297
|
0.00001
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)
|
rs121908176
|
0.00001
|
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)
|
rs201063733
|
0.00001
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
NM_031885.5(BBS2):c.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.504del (p.Leu168fs)
|
rs1224014742
|
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.565C>T (p.Arg189Ter)
|
rs1273181642
|
0.00001
|
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)
|
rs121908180
|
0.00001
|
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)
|
rs779690256
|
0.00001
|
NM_031885.5(BBS2):c.717+1G>A
|
rs1047075022
|
0.00001
|
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)
|
rs797045155
|
0.00001
|
NM_031942.5(CDCA7):c.1148G>A (p.Arg383His)
|
rs772929976
|
0.00001
|
NM_032119.4(ADGRV1):c.12829C>T (p.Arg4277Ter)
|
rs1758506826
|
0.00001
|
NM_032119.4(ADGRV1):c.13232-1G>A
|
rs764583867
|
0.00001
|
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)
|
rs373780305
|
0.00001
|
NM_032237.5(POMK):c.10C>T (p.Gln4Ter)
|
rs202006335
|
0.00001
|
NM_032237.5(POMK):c.43C>T (p.Arg15Ter)
|
rs774013796
|
0.00001
|
NM_032237.5(POMK):c.907C>T (p.Arg303Ter)
|
rs528307346
|
0.00001
|
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg)
|
rs587777730
|
0.00001
|
NM_032793.5(MFSD2A):c.1016C>T (p.Ser339Leu)
|
rs1057519087
|
0.00001
|
NM_032793.5(MFSD2A):c.497C>T (p.Ser166Leu)
|
rs1057517689
|
0.00001
|
NM_032806.6(POMGNT2):c.494T>C (p.Met165Thr)
|
rs1559414655
|
0.00001
|
NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn)
|
rs768063378
|
0.00001
|
NM_032808.7(LINGO1):c.863A>G (p.Tyr288Cys)
|
rs750612085
|
0.00001
|
NM_032808.7(LINGO1):c.868C>T (p.Arg290Cys)
|
rs767873726
|
0.00001
|
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)
|
rs28938468
|
0.00001
|
NM_033028.5(BBS4):c.187C>T (p.Gln63Ter)
|
rs1338469029
|
0.00001
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
NM_033028.5(BBS4):c.2T>C (p.Met1Thr)
|
rs1302879683
|
0.00001
|
NM_033028.5(BBS4):c.332+8T>C
|
rs1456405256
|
0.00001
|
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
0.00001
|
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter)
|
rs747399274
|
0.00001
|
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter)
|
rs78218009
|
0.00001
|
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg)
|
rs397515568
|
0.00001
|
NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)
|
rs121912951
|
0.00001
|
NM_138387.4(G6PC3):c.210del (p.Phe71fs)
|
rs769441127
|
0.00001
|
NM_138387.4(G6PC3):c.218+1G>A
|
rs772298089
|
0.00001
|
NM_138387.4(G6PC3):c.758G>A (p.Arg253His)
|
rs118203968
|
0.00001
|
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr)
|
rs747645756
|
0.00001
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
NM_138694.4(PKHD1):c.11398+2T>C
|
rs754038777
|
0.00001
|
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)
|
rs746471701
|
0.00001
|
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs)
|
rs747170980
|
0.00001
|
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)
|
rs761704401
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
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.1690C>T (p.Arg564Ter)
|
rs765251347
|
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.2180A>G (p.Asn727Ser)
|
rs727504090
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs)
|
rs767737392
|
0.00001
|
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter)
|
rs371928571
|
0.00001
|
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr)
|
rs764696718
|
0.00001
|
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)
|
rs727504089
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)
|
rs777158800
|
0.00001
|
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)
|
rs747895516
|
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.370C>T (p.Arg124Ter)
|
rs727504096
|
0.00001
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
NM_138694.4(PKHD1):c.383del (p.Thr128fs)
|
rs868562051
|
0.00001
|
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)
|
rs1278235097
|
0.00001
|
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter)
|
rs1350620976
|
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.5323C>T (p.Arg1775Ter)
|
rs770522674
|
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.6046A>T (p.Ser2016Cys)
|
rs1413693039
|
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.711_714del (p.Met238fs)
|
rs786204588
|
0.00001
|
NM_138694.4(PKHD1):c.7177C>T (p.Gln2393Ter)
|
rs1436814142
|
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.8011C>T (p.Arg2671Ter)
|
rs137852947
|
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.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.8642+1G>A
|
rs1485161784
|
0.00001
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
|
rs765020336
|
0.00001
|
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)
|
rs757946548
|
0.00001
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly)
|
rs1477456222
|
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.9646C>T (p.Gln3216Ter)
|
rs758732107
|
0.00001
|
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)
|
rs1057516577
|
0.00001
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)
|
rs777176261
|
0.00001
|
NM_144596.4(TTC8):c.265+1G>A
|
rs139234943
|
0.00001
|
NM_144596.4(TTC8):c.624+1G>A
|
rs587777808
|
0.00001
|
NM_144596.4(TTC8):c.915del (p.Met305fs)
|
rs1431207606
|
0.00001
|
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp)
|
rs200656442
|
0.00001
|
NM_144772.3(NAXE):c.516+1G>A
|
rs139093330
|
0.00001
|
NM_144991.3(TSPEAR):c.1728del (p.Lys577fs)
|
rs782540538
|
0.00001
|
NM_144992.5(VWA3B):c.1865A>C (p.Lys622Thr)
|
rs876657414
|
0.00001
|
NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter)
|
rs954823206
|
0.00001
|
NM_145886.4(PIDD1):c.2443C>T (p.Arg815Trp)
|
rs758859772
|
0.00001
|
NM_147127.5(EVC2):c.1303C>T (p.Gln435Ter)
|
rs1369020144
|
0.00001
|
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs)
|
rs772840335
|
0.00001
|
NM_147127.5(EVC2):c.1713dup (p.Asn572fs)
|
rs1553836165
|
0.00001
|
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter)
|
rs137852925
|
0.00001
|
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer)
|
rs1431987950
|
0.00001
|
NM_147127.5(EVC2):c.2056dup (p.Gln686fs)
|
rs1265421045
|
0.00001
|
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter)
|
rs781623802
|
0.00001
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter)
|
rs1282621867
|
0.00001
|
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter)
|
rs548681312
|
0.00001
|
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter)
|
rs770918273
|
0.00001
|
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter)
|
rs1715453232
|
0.00001
|
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter)
|
rs146538906
|
0.00001
|
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter)
|
rs144167138
|
0.00001
|
NM_147127.5(EVC2):c.3523_3527dup (p.Gln1179fs)
|
rs1560126707
|
0.00001
|
NM_147127.5(EVC2):c.3762del (p.Val1255fs)
|
rs1577093258
|
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.644G>A (p.Trp215Ter)
|
rs1720937470
|
0.00001
|
NM_147127.5(EVC2):c.707-2A>G
|
rs1302074641
|
0.00001
|
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter)
|
rs1236566474
|
0.00001
|
NM_147127.5(EVC2):c.832A>T (p.Lys278Ter)
|
rs942590430
|
0.00001
|
NM_147127.5(EVC2):c.848T>G (p.Ile283Arg)
|
rs137852926
|
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_147196.3(TMIE):c.274C>T (p.Arg92Trp)
|
rs28941781
|
0.00001
|
NM_148919.4(PSMB8):c.421C>T (p.Arg141Ter)
|
rs374929612
|
0.00001
|
NM_152384.3(BBS5):c.209-1G>A
|
rs1172161975
|
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.24G>A (p.Trp8Ter)
|
rs373396081
|
0.00001
|
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)
|
rs772757329
|
0.00001
|
NM_152384.3(BBS5):c.2T>A (p.Met1Lys)
|
rs767822498
|
0.00001
|
NM_152443.3(RDH12):c.210dup (p.Arg71fs)
|
rs797044761
|
0.00001
|
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)
|
rs368489658
|
0.00001
|
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter)
|
rs752242512
|
0.00001
|
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)
|
rs202126574
|
0.00001
|
NM_152443.3(RDH12):c.437T>A (p.Val146Asp)
|
rs116649873
|
0.00001
|
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)
|
rs121434337
|
0.00001
|
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter)
|
rs753074829
|
0.00001
|
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter)
|
rs201915239
|
0.00001
|
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)
|
rs1381368546
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)
|
rs1269565757
|
0.00001
|
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser)
|
rs142593414
|
0.00001
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
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.664dup (p.Ala222fs)
|
rs1800897309
|
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_152618.3(BBS12):c.898C>T (p.Gln300Ter)
|
rs754448484
|
0.00001
|
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter)
|
rs1485445500
|
0.00001
|
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter)
|
rs119456962
|
0.00001
|
NM_153240.5(NPHP3):c.1911G>A (p.Trp637Ter)
|
rs919854764
|
0.00001
|
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu)
|
rs869312915
|
0.00001
|
NM_153240.5(NPHP3):c.1943dup (p.Ile649fs)
|
rs746059113
|
0.00001
|
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=)
|
rs558637226
|
0.00001
|
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)
|
rs1007848349
|
0.00001
|
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter)
|
rs368138001
|
0.00001
|
NM_153240.5(NPHP3):c.424C>T (p.Arg142Ter)
|
rs771742823
|
0.00001
|
NM_153240.5(NPHP3):c.988G>A (p.Glu330Lys)
|
rs758498695
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153676.4(USH1C):c.375del (p.Ser125fs)
|
rs756032457
|
0.00001
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777
|
0.00001
|
NM_153676.4(USH1C):c.497-2del
|
rs1480243085
|
0.00001
|
NM_153676.4(USH1C):c.586C>T (p.Arg196Ter)
|
rs1290295453
|
0.00001
|
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)
|
rs1223763703
|
0.00001
|
NM_153676.4(USH1C):c.877-1G>A
|
rs771279169
|
0.00001
|
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)
|
rs121908370
|
0.00001
|
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter)
|
rs876657725
|
0.00001
|
NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter)
|
rs755471554
|
0.00001
|
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter)
|
rs769443188
|
0.00001
|
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)
|
rs863225235
|
0.00001
|
NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter)
|
rs778155409
|
0.00001
|
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)
|
rs267607115
|
0.00001
|
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)
|
rs201791586
|
0.00001
|
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)
|
rs751309268
|
0.00001
|
NM_153704.6(TMEM67):c.312+5G>A
|
rs786200868
|
0.00001
|
NM_153717.3(EVC):c.1021C>T (p.Gln341Ter)
|
rs1729663828
|
0.00001
|
NM_153717.3(EVC):c.1324C>T (p.Gln442Ter)
|
rs753152908
|
0.00001
|
NM_153717.3(EVC):c.1387dup (p.Thr463fs)
|
rs1317662938
|
0.00001
|
NM_153717.3(EVC):c.1489C>T (p.Gln497Ter)
|
rs1460597472
|
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.1868T>C (p.Leu623Pro)
|
rs1373632260
|
0.00001
|
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter)
|
rs774949132
|
0.00001
|
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter)
|
rs1714132239
|
0.00001
|
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter)
|
rs1446547358
|
0.00001
|
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter)
|
rs374752679
|
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.758C>G (p.Ser253Ter)
|
rs762795511
|
0.00001
|
NM_153717.3(EVC):c.773dup (p.Tyr258Ter)
|
rs748201094
|
0.00001
|
NM_153717.3(EVC):c.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter)
|
rs1560323242
|
0.00001
|
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)
|
rs121908426
|
0.00001
|
NM_153717.3(EVC):c.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro)
|
rs1553259602
|
0.00001
|
NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter)
|
rs786205229
|
0.00001
|
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)
|
rs774694340
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu)
|
rs779116830
|
0.00001
|
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter)
|
rs753338844
|
0.00001
|
NM_170784.3(MKKS):c.1239_1242dup (p.Thr415Ter)
|
rs1306231185
|
0.00001
|
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter)
|
rs753180214
|
0.00001
|
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp)
|
rs28937875
|
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.415C>T (p.Arg139Ter)
|
rs142394051
|
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_170784.3(MKKS):c.890T>C (p.Ile297Thr)
|
rs147704542
|
0.00001
|
NM_170784.3(MKKS):c.986-1G>A
|
rs200633158
|
0.00001
|
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)
|
rs201866631
|
0.00001
|
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)
|
rs111033267
|
0.00001
|
NM_174878.3(CLRN1):c.433+1G>A
|
rs201205811
|
0.00001
|
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)
|
rs373208120
|
0.00001
|
NM_174916.3(UBR1):c.1537C>T (p.Gln513Ter)
|
rs119477055
|
0.00001
|
NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter)
|
rs374049779
|
0.00001
|
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter)
|
rs1470030897
|
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_177965.4(CFAP418):c.304A>T (p.Lys102Ter)
|
rs766087213
|
0.00001
|
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp)
|
rs387907136
|
0.00001
|
NM_177973.2(SULT2B1):c.821G>A (p.Arg274Gln)
|
rs762765702
|
0.00001
|
NM_178170.3(NEK8):c.1997dup (p.Tyr666Ter)
|
rs1226393603
|
0.00001
|
NM_178172.6(GPIHBP1):c.194G>A (p.Cys65Tyr)
|
rs587777638
|
0.00001
|
NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys)
|
rs587777643
|
0.00001
|
NM_181741.4(ORC4):c.623C>G (p.Ser208Ter)
|
rs535159793
|
0.00001
|
NM_181741.4(ORC4):c.870_873dup (p.Ala292fs)
|
rs797044461
|
0.00001
|
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val)
|
rs762876554
|
0.00001
|
NM_182961.4(SYNE1):c.10768C>T (p.Arg3590Ter)
|
rs606231292
|
0.00001
|
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter)
|
rs752224921
|
0.00001
|
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter)
|
rs766129413
|
0.00001
|
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)
|
rs1300885934
|
0.00001
|
NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter)
|
rs781655232
|
0.00001
|
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)
|
rs780451185
|
0.00001
|
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter)
|
rs763325410
|
0.00001
|
NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter)
|
rs780634258
|
0.00001
|
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter)
|
rs1174316105
|
0.00001
|
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)
|
rs797046025
|
0.00001
|
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter)
|
rs750266004
|
0.00001
|
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)
|
rs119103243
|
0.00001
|
NM_183065.4(TMEM107):c.*670dup
|
rs775673578
|
0.00001
|
NM_183065.4(TMEM107):c.*675A>G
|
rs750457525
|
0.00001
|
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr)
|
rs80356586
|
0.00001
|
NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser)
|
rs397515435
|
0.00001
|
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter)
|
rs199848801
|
0.00001
|
NM_194248.3(OTOF):c.4882C>A (p.Pro1628Thr)
|
rs760176622
|
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.1120C>T (p.Arg374Ter)
|
rs998200637
|
0.00001
|
NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter)
|
rs370729939
|
0.00001
|
NM_198428.3(BBS9):c.1175del (p.Ile392fs)
|
rs1815414782
|
0.00001
|
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter)
|
rs762511626
|
0.00001
|
NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter)
|
rs748601675
|
0.00001
|
NM_198428.3(BBS9):c.1693+1G>A
|
rs1295000119
|
0.00001
|
NM_198428.3(BBS9):c.214del (p.Val72fs)
|
rs1384578916
|
0.00001
|
NM_198428.3(BBS9):c.263+1G>A
|
rs137962929
|
0.00001
|
NM_198428.3(BBS9):c.442+1G>C
|
rs587777811
|
0.00001
|
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter)
|
rs781174906
|
0.00001
|
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
|
rs767005321
|
0.00001
|
NM_198525.3(KIF7):c.1019dup (p.Asn341fs)
|
rs1964065704
|
0.00001
|
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)
|
rs114342808
|
0.00001
|
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)
|
rs769909288
|
0.00001
|
NM_201384.3(PLEC):c.10573C>T (p.Gln3525Ter)
|
rs781837529
|
0.00001
|
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp)
|
rs80338756
|
0.00001
|
NM_201384.3(PLEC):c.6664C>T (p.Gln2222Ter)
|
rs1823561323
|
0.00001
|
NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter)
|
rs782107643
|
0.00001
|
NM_201384.3(PLEC):c.6970C>T (p.Arg2324Ter)
|
rs1554691029
|
0.00001
|
NM_201384.3(PLEC):c.8991C>G (p.Tyr2997Ter)
|
rs1279778532
|
0.00001
|
NM_203486.3(DLL3):c.712C>T (p.Arg238Ter)
|
rs104894675
|
0.00001
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)
|
rs1057519193
|
0.00001
|
NM_206933.4(USH2A):c.11389+3A>T
|
rs753886165
|
0.00001
|
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys)
|
rs111033395
|
0.00001
|
NM_206933.4(USH2A):c.11473del (p.His3825fs)
|
rs774677256
|
0.00001
|
NM_206933.4(USH2A):c.11516del (p.Gln3839fs)
|
rs1558078416
|
0.00001
|
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)
|
rs1358947010
|
0.00001
|
NM_206933.4(USH2A):c.12067-1G>A
|
rs397517977
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
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.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
0.00001
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NM_206933.4(USH2A):c.1841-2A>G
|
rs397518003
|
0.00001
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)
|
rs781223647
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter)
|
rs1364987785
|
0.00001
|
NM_206933.4(USH2A):c.2168-1G>C
|
rs748961218
|
0.00001
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)
|
rs886039449
|
0.00001
|
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)
|
rs727503736
|
0.00001
|
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)
|
rs767078782
|
0.00001
|
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)
|
rs1394737087
|
0.00001
|
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)
|
rs397518011
|
0.00001
|
NM_206933.4(USH2A):c.3317-2A>G
|
rs2034951427
|
0.00001
|
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292
|
0.00001
|
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg)
|
rs769198746
|
0.00001
|
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)
|
rs745350407
|
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.538T>C (p.Ser180Pro)
|
rs1171672823
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
NM_206933.4(USH2A):c.5572+1G>A
|
rs775293551
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter)
|
rs751130485
|
0.00001
|
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)
|
rs111033386
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)
|
rs200712760
|
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.8834G>A (p.Trp2945Ter)
|
rs760302201
|
0.00001
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
NM_206933.4(USH2A):c.9056-2A>G
|
rs754970095
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9372-1G>A
|
rs1558111861
|
0.00001
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter)
|
rs760858249
|
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.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
NM_207361.6(FREM2):c.5920G>A (p.Glu1974Lys)
|
rs121434355
|
0.00001
|
NM_213599.3(ANO5):c.1119+1G>T
|
rs762946781
|
0.00001
|
NM_213599.3(ANO5):c.1120-1G>A
|
rs561719071
|
0.00001
|
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)
|
rs137854524
|
0.00001
|
NM_213599.3(ANO5):c.1407+5G>A
|
rs281865464
|
0.00001
|
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)
|
rs1168346560
|
0.00001
|
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)
|
rs1323349209
|
0.00001
|
NM_213599.3(ANO5):c.1963T>C (p.Trp655Arg)
|
rs912174567
|
0.00001
|
NM_213599.3(ANO5):c.2012A>G (p.Tyr671Cys)
|
rs764261431
|
0.00001
|
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter)
|
rs753138577
|
0.00001
|
NM_213599.3(ANO5):c.2395C>T (p.Arg799Ter)
|
rs762874007
|
0.00001
|
NM_213599.3(ANO5):c.2470del (p.Gln824fs)
|
rs770694933
|
0.00001
|
NR_003051.4(RMRP):n.195G>A
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rs761398394
|
0.00001
|
15q15.3 deletion
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|
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2q13 deletion
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2q13 deletion (290 kb)
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9q21.11 duplication
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A114N
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A445E
|
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APOB, 1-BP DEL, 4432T
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APOB, EX21DEL
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ATP6V0A2, 1-BP INS, 100A
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BBS2, CYS210FS, TER246
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BBS5, 8-BP DEL/7-BP INS, NT263
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CFTR, GLN524HIS
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CLCN1, TRP433ARG
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DNMT3B, 1-BP INS, CODON 53
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DNMT3B, EX21-22DEL
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DNMT3B, LEU656THR
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GHR, EX4,6DEL
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GRCh37/hg19 11q13.2(chr11:66274870-66292647)x1
|
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GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160
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GRCh37/hg19 13q12.11(chr13:20803674-21030220)
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GRCh37/hg19 15q15.3(chr15:43890409-43939642)
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GRCh37/hg19 15q15.3(chr15:43891364-43939659)
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GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1
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GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1
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GRCh37/hg19 16p13.11(chr16:16248464-16259810)
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GRCh37/hg19 17p13.2(chr17:3539741-3561489)
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GRCh37/hg19 17q22(chr17:57119174-57128690)
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GRCh37/hg19 1q41(chr1:216138660-216270555)
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GRCh37/hg19 1q42.13(chr1:227149087-227149264)
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GRCh37/hg19 20q13.2(chr20:52769985-52790525)
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GRCh37/hg19 2q13(chr2:110862477-110983703)
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GRCh37/hg19 2q13(chr2:110875689-110967529)
|
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GRCh37/hg19 2q13(chr2:110880893-110962659)
|
|
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GRCh37/hg19 2q13(chr2:110880925-110962590)
|
|
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GRCh37/hg19 2q36.3(chr2:227942610-227945265)
|
|
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GRCh37/hg19 2q36.3(chr2:228167754-228169799)
|
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GRCh37/hg19 4p14(chr4:39215680-39219295)
|
|
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GRCh37/hg19 5q35.3(chr5:176812675-176813587)
|
|
|
GRCh37/hg19 6p12.3-12.2(chr6:51695623-52371918)
|
|
|
GRCh37/hg19 8p23.1(chr8:6261036-6312712)
|
|
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GRCh37/hg19 8p23.2-23.1(chr8:6160874-6500521)
|
|
|
GRCh37/hg19 8q24.3(chr8:140852548-140953922)
|
|
|
GRCh37/hg19 9q31.1(chr9:103059178-103060312)
|
|
|
GRCh38/hg38 13q12.12(chr13:23315907-23322480)x0
|
|
|
GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0
|
|
|
GRCh38/hg38 15q15.1(chr15:42349336-42378932)x1
|
|
|
GRCh38/hg38 2p13.2(chr2:71503117-71517137)x0
|
|
|
GRCh38/hg38 2q13(chr2:110091573-110205023)
|
|
|
GRCh38/hg38 2q13(chr2:110091573-110212811)
|
|
|
GRCh38/hg38 2q13(chr2:110123182-110205164)x0
|
|
|
GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0
|
|
|
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
|
|
|
GRIK2, DEL/INV, EX7-11
|
|
|
HSPG2, EX60/61 FUSION
|
|
|
L76937.1:c.3711del
|
rs1563385391
|
|
MARS2, DUP2
|
|
|
MTR, IVS6AS, G-A, LYS203
|
|
|
MTRR, 4-BP DEL, NT1675
|
|
|
MYO7A, IVS27AS, G-C, -1
|
|
|
Multiple alleles
|
|
|
NC_000001.10:g.(216462753_216465516)_(216465713_216495224)del
|
|
|
NC_000001.10:g.(?_10535024)_(10535079_?)del
|
|
|
NC_000001.10:g.(?_10535024)_(10596374_?)del
|
|
|
NC_000001.10:g.(?_10535024)_(10687440_?)del
|
|
|
NC_000001.10:g.(?_12008013)_(12008144_?)del
|
|
|
NC_000001.10:g.(?_12014867)_(12014970_?)del
|
|
|
NC_000001.10:g.(?_12020683)_(12027168_?)dup
|
|
|
NC_000001.10:g.(?_12020693)_(12027158_?)dup
|
|
|
NC_000001.10:g.(?_153963273)_(154580482_?)del
|
|
|
NC_000001.10:g.(?_154422067)_(154580482_?)del
|
|
|
NC_000001.10:g.(?_17316166)_(17332293_?)del
|
|
|
NC_000001.10:g.(?_17330807)_(17332293_?)del
|
|
|
NC_000001.10:g.(?_186265850)_(186266785_?)del
|
|
|
NC_000001.10:g.(?_218520044)_(220986760_?)del
|
|
|
NC_000001.10:g.(?_220330592)_(220335630_?)del
|
|
|
NC_000001.10:g.(?_2337195)_(2340307_?)del
|
|
|
NC_000001.10:g.(?_2339881)_(2340307_?)del
|
|
|
NC_000001.10:g.(?_2341800)_(2343951_?)del
|
|
|
NC_000001.10:g.(?_243303219)_(243456541_?)del
|
|
|
NC_000001.10:g.(?_243335979)_(243419562_?)del
|
|
|
NC_000001.10:g.(?_45793451)_(45798111_?)del
|
|
|
NC_000001.10:g.(?_45798384)_(45798589_?)del
|
|
|
NC_000001.10:g.(?_45805881)_(45809328_?)del
|
|
|
NC_000001.10:g.(?_46654381)_(46656466_?)del
|
|
|
NC_000001.10:g.(?_46655193)_(46661449_?)del
|
|
|
NC_000001.10:g.(?_46656382)_(46662766_?)del
|
|
|
NC_000001.10:g.(?_46662483)_(46671639_?)del
|
|
|
NC_000001.10:g.(?_46663448)_(46664153_?)del
|
|
|
NC_000001.10:g.(?_5933292)_(5940319_?)del
|
|
|
NC_000001.10:g.(?_5950908)_(5951108_?)del
|
|
|
NC_000001.10:g.(?_5964657)_(5969293_?)del
|
|
|
NC_000001.10:g.(?_68895449)_(68915598_?)del
|
|
|
NC_000001.10:g.(?_68910194)_(68912563_?)del
|
|
|
NC_000001.10:g.(?_68912383)_(68912553_?)del
|
|
|
NC_000001.10:g.(?_861322)_(3768971_?)del
|
|
|
NC_000001.10:g.216144119_216591855del447737
|
|
|
NC_000001.10:g.227150977_227195656del44680
|
|
|
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
|
|
|
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
|
|
|
NC_000001.11:g.(?_11949763)_(11952745_?)del
|
|
|
NC_000001.11:g.(?_16991714)_(16992601_?)del
|
|
|
NC_000001.11:g.(?_179882503)_(179904022_?)del
|
|
|
NC_000001.11:g.(?_216270461)_(216260162_?)del
|
|
|
NC_000001.11:g.(?_236795684)_(236897664_?)del
|
|
|
NC_000001.11:g.(?_2405746)_(2412522_?)del
|
|
|
NC_000001.11:g.(?_2405756)_(2412512_?)del
|
|
|
NC_000001.11:g.(?_242268256)_(243843190_?)del
|
|
|
NC_000001.11:g.(?_243415682)_(243415849_?)del
|
|
|
NC_000001.11:g.(?_45329296)_(45333334_?)del
|
|
|
NC_000001.11:g.(?_45329300)_(45333609_?)del
|
|
|
NC_000001.11:g.(?_45329306)_(45333324_?)del
|
|
|
NC_000001.11:g.(?_45329306)_(45333334_?)del
|
|
|
NC_000001.11:g.(?_45332568)_(45334517_?)del
|
|
|
NC_000001.11:g.(?_46190463)_(46190794_?)del
|
|
|
NC_000001.11:g.(?_6467553)_(6477668_?)del
|
|
|
NC_000001.11:g.(?_6474003)_(6477668_?)del
|
|
|
NC_000001.11:g.(?_68438187)_(68484090_?)del
|
|
|
NC_000001.11:g.11963531GA[1]
|
|
|
NC_000001.11:g.236468231_236468234del
|
|
|
NC_000002.11:g.(?_108604612)_(109579739_?)del
|
|
|
NC_000002.11:g.(?_110879913)_(110963639_?)del
|
|
|
NC_000002.11:g.(?_110881368)_(110959091_?)del
|
|
|
NC_000002.11:g.(?_150438631)_(150438795_?)del
|
|
|
NC_000002.11:g.(?_150443583)_(150443611_?)del
|
|
|
NC_000002.11:g.(?_150443583)_(150443631_?)del
|
|
|
NC_000002.11:g.(?_165946660)_(167168266_?)del
|
|
|
NC_000002.11:g.(?_166744769)_(166747518_?)del
|
|
|
NC_000002.11:g.(?_170336064)_(170336142_?)del
|
|
|
NC_000002.11:g.(?_170349364)_(170350366_?)del
|
|
|
NC_000002.11:g.(?_170359585)_(170361092_?)del
|
|
|
NC_000002.11:g.(?_20153575)_(20153759_?)del
|
|
|
NC_000002.11:g.(?_20188906)_(20189063_?)del
|
|
|
NC_000002.11:g.(?_202466462)_(202508123_?)del
|
|
|
NC_000002.11:g.(?_202501451)_(202633608_?)del
|
|
|
NC_000002.11:g.(?_202508062)_(202508123_?)del
|
|
|
NC_000002.11:g.(?_219646906)_(219647180_?)del
|
|
|
NC_000002.11:g.(?_219646906)_(219738567_?)del
|
|
|
NC_000002.11:g.(?_219674280)_(219679753_?)del
|
|
|
NC_000002.11:g.(?_219745708)_(219747155_?)del
|
|
|
NC_000002.11:g.(?_219745718)_(219757993_?)del
|
|
|
NC_000002.11:g.(?_47132602)_(47206066_?)del
|
|
|
NC_000002.11:g.(?_47168661)_(47238594_?)del
|
|
|
NC_000002.11:g.(?_47177482)_(47301062_?)del
|
|
|
NC_000002.11:g.(?_47202092)_(47206066_?)del
|
|
|
NC_000002.11:g.(?_63401785)_(63401987_?)del
|
|
|
NC_000002.11:g.(?_63486422)_(63815425_?)del
|
|
|
NC_000002.11:g.(?_63540363)_(63540466_?)del
|
|
|
NC_000002.11:g.(?_63605501)_(63605664_?)del
|
|
|
NC_000002.11:g.(?_63711718)_(63815425_?)del
|
|
|
NC_000002.11:g.(?_63815311)_(63815405_?)del
|
|
|
NC_000002.11:g.(?_73610049)_(73680031_?)del
|
|
|
NC_000002.11:g.(?_73612987)_(73786279_?)del
|
|
|
NC_000002.11:g.(?_73612987)_(73836749_?)del
|
|
|
NC_000002.11:g.(?_73635740)_(73786279_?)del
|
|
|
NC_000002.11:g.(?_73646231)_(73659439_?)del
|
|
|
NC_000002.11:g.(?_73651548)_(73659429_?)del
|
|
|
NC_000002.11:g.(?_73659316)_(73659429_?)del
|
|
|
NC_000002.11:g.(?_73675070)_(73682442_?)del
|
|
|
NC_000002.11:g.(?_73716751)_(73718635_?)del
|
|
|
NC_000002.11:g.(?_73716751)_(73747153_?)del
|
|
|
NC_000002.11:g.(?_73716751)_(73762086_?)del
|
|
|
NC_000002.11:g.(?_73716751)_(73786279_?)del
|
|
|
NC_000002.11:g.(?_73746892)_(73747153_?)del
|
|
|
NC_000002.11:g.(?_73746892)_(73762086_?)del
|
|
|
NC_000002.11:g.(?_73746892)_(73777574_?)del
|
|
|
NC_000002.11:g.(?_73746892)_(73800561_?)del
|
|
|
NC_000002.11:g.(?_73777384)_(73800561_?)del
|
|
|
NC_000002.11:g.(?_73799379)_(73800561_?)del
|
|
|
NC_000002.12:g.(?_108894471)_(108989220_?)del
|
|
|
NC_000002.12:g.(?_110091603)_(110204968_?)del
|
|
|
NC_000002.12:g.(?_110123771)_(110204988_?)del
|
|
|
NC_000002.12:g.(?_110123791)_(110201494_?)del
|
|
|
NC_000002.12:g.(?_110123791)_(110204968_?)del
|
|
|
NC_000002.12:g.(?_110144493)_(110150256_?)del
|
|
|
NC_000002.12:g.(?_110163048)_(110204968_?)del
|
|
|
NC_000002.12:g.(?_135052292)_(135176396_?)del
|
|
|
NC_000002.12:g.(?_149569954)_(149587117_?)del
|
|
|
NC_000002.12:g.(?_149569964)_(149587107_?)del
|
|
|
NC_000002.12:g.(?_169492874)_(169493836_?)del
|
|
|
NC_000002.12:g.(?_201618900)_(201647825_?)del
|
|
|
NC_000002.12:g.(?_218809567)_(218809777_?)del
|
|
|
NC_000002.12:g.(?_218880976)_(218893291_?)del
|
|
|
NC_000002.12:g.(?_63378386)_(63404657_?)del
|
|
|
NC_000002.12:g.(?_73489624)_(73603314_?)del
|
|
|
NC_000002.12:g.110069919_110205214del
|
|
|
NC_000002.12:g.110131796_110131797insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGCAGTAGACTATT
|
|
|
NC_000002.12:g.165943342del
|
|
|
NC_000002.12:g.169477282_169483199del
|
|
|
NC_000002.12:g.218812223dup
|
|
|
NC_000002.12:g.60947640_61094952del
|
|
|
NC_000003.11:g.(97487075_97499002)_(97520087_?)del
|
|
|
NC_000003.11:g.(?_121459590)_(121547499_?)del
|
|
|
NC_000003.11:g.(?_121526171)_(121527876_?)del
|
|
|
NC_000003.11:g.(?_121547297)_(121547807_?)del
|
|
|
NC_000003.11:g.(?_129159174)_(129214470_?)del
|
|
|
NC_000003.11:g.(?_132379382)_(133191429_?)del
|
|
|
NC_000003.11:g.(?_132410016)_(132411682_?)del
|
|
|
NC_000003.11:g.(?_48507870)_(50340407_?)del
|
|
|
NC_000003.11:g.(?_97194196)_(97510809_?)del
|
|
|
NC_000003.11:g.(?_97486952)_(97516893_?)del
|
|
|
NC_000003.11:g.(?_97498983)_(97516893_?)del
|
|
|
NC_000003.12:g.(?_121772557)_(121781874_?)del
|
|
|
NC_000003.12:g.(?_132681890)_(132684814_?)del
|
|
|
NC_000003.12:g.(?_49121216)_(49533209_?)del
|
|
|
NC_000003.12:g.(?_97768108)_(97768230_?)del
|
|
|
NC_000004.11:g.(93511438_94006145)_(94032105_94128554)del
|
|
|
NC_000004.11:g.(?_17488754)_(17513677_?)del
|
|
|
NC_000004.11:g.(?_17510874)_(17513677_?)del
|
|
|
NC_000004.11:g.(?_184585021)_(184585244_?)del
|
|
|
NC_000004.11:g.(?_184622830)_(184633797_?)del
|
|
|
NC_000004.11:g.(?_2200251)_(5710240_?)del
|
|
|
NC_000004.11:g.(?_39184178)_(39184203_?)del
|
|
|
NC_000004.11:g.(?_39216201)_(39218880_?)del
|
|
|
NC_000004.11:g.(?_39218734)_(39219745_?)del
|
|
|
NC_000004.11:g.(?_39257448)_(39257600_?)del
|
|
|
NC_000004.11:g.(?_52890123)_(52904425_?)del
|
|
|
NC_000004.11:g.(?_52894124)_(52896039_?)del
|
|
|
NC_000004.11:g.(?_52899577)_(52899826_?)del
|
|
|
NC_000004.11:g.(?_5563146)_(5711294_?)del
|
|
|
NC_000004.11:g.(?_5564565)_(5578191_?)del
|
|
|
NC_000004.11:g.(?_5564565)_(5586587_?)del
|
|
|
NC_000004.11:g.(?_5565510)_(5811251_?)del
|
|
|
NC_000004.11:g.(?_5576402)_(5576509_?)del
|
|
|
NC_000004.11:g.(?_5617139)_(5812774_?)del
|
|
|
NC_000004.11:g.(?_5630276)_(5633769_?)del
|
|
|
NC_000004.11:g.(?_5642221)_(5642585_?)del
|
|
|
NC_000004.11:g.(?_5682977)_(5735172_?)del
|
|
|
NC_000004.11:g.(?_5690874)_(5696238_?)del
|
|
|
NC_000004.11:g.(?_5696052)_(5696238_?)del
|
|
|
NC_000004.11:g.(?_5710003)_(5750043_?)del
|
|
|
NC_000004.11:g.(?_5711924)_(5817031_?)del
|
|
|
NC_000004.11:g.(?_5749725)_(5755670_?)del
|
|
|
NC_000004.11:g.(?_5754553)_(5755670_?)del
|
|
|
NC_000004.11:g.(?_5754553)_(5758099_?)del
|
|
|
NC_000004.11:g.(?_5754553)_(5785501_?)del
|
|
|
NC_000004.11:g.(?_5785269)_(5812774_?)del
|
|
|
NC_000004.11:g.(?_5798739)_(5798969_?)del
|
|
|
NC_000004.11:g.(?_5803667)_(5806578_?)del
|
|
|
NC_000004.11:g.(?_5809918)_(5811348_?)del
|
|
|
NC_000004.11:g.39350045_39350099delinsAAGGG[(400_2000)]
|
|
|
NC_000004.12:g.(99601399_99613000)del
|
|
|
NC_000004.12:g.(?_122741883)_(122744035_?)del
|
|
|
NC_000004.12:g.(?_183663858)_(183712654_?)del
|
|
|
NC_000004.12:g.(?_52023947)_(52038269_?)del
|
|
|
NC_000004.12:g.(?_52033421)_(52033650_?)del
|
|
|
NC_000004.12:g.(?_52038207)_(52038279_?)del
|
|
|
NC_000004.12:g.(?_5562838)_(5758135_?)del
|
|
|
NC_000004.12:g.(?_5562848)_(5565369_?)del
|
|
|
NC_000004.12:g.(?_5568434)_(5568650_?)del
|
|
|
NC_000004.12:g.(?_5689147)_(5689353_?)del
|
|
|
NC_000004.12:g.(?_5729297)_(5758135_?)del
|
|
|
NC_000004.12:g.(?_5797002)_(5797252_?)del
|
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NC_000017.10:g.(?_48243336)_(48246625_?)del
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|
|
NC_000017.10:g.(?_48243336)_(48253303_?)del
|
|
|
NC_000017.10:g.(?_7906366)_(7912924_?)del
|
|
|
NC_000017.11:g.(?_3636418)_(3656815_?)del
|
|
|
NC_000017.11:g.(?_3636418)_(3658185_?)del
|
|
|
NC_000017.11:g.(?_3636418)_(3658195_?)del
|
|
|
NC_000017.11:g.(?_3647424)_(3648951_?)del
|
|
|
NC_000017.11:g.(?_3647434)_(3648941_?)del
|
|
|
NC_000017.11:g.(?_3647444)_(3658175_?)del
|
|
|
NC_000017.11:g.(?_3654988)_(3655362_?)del
|
|
|
NC_000017.11:g.(?_3657995)_(3660744_?)del
|
|
|
NC_000017.11:g.(?_41771637)_(41771864_?)del
|
|
|
NC_000017.11:g.(?_8002902)_(8016550_?)del
|
|
|
NC_000017.11:g.35577561_35577592del
|
rs2142231221
|
|
NC_000017.11:g.3600934_3658165del
|
|
|
NC_000017.11:g.3654998del
|
|
|
NC_000017.11:g.3659858del
|
rs2142981161
|
|
NC_000017.11:g.3660238_3660245del
|
|
|
NC_000017.11:g.8017296_8022594del
|
|
|
NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC
|
|
|
NC_000018.10:g.23543572_23543573insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCACCAGTGTTATTTGATTTATGGAATTTTGAAACCTCTTCGGGGCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACGTTCATCTCTCTT
|
|
|
NC_000018.10:g.60033942_60033993del
|
rs2144716942
|
|
NC_000018.9:g.(?_21166241)_(21166317_?)del
|
|
|
NC_000018.9:g.(?_43502287)_(43505888_?)del
|
|
|
NC_000018.9:g.(?_43547123)_(43547205_?)del
|
|
|
NC_000018.9:g.43547114_43604673del
|
|
|
NC_000019.10:g.(?_7112255)_(7249328_?)del
|
|
|
NC_000019.10:g.35905861_35911126del
|
|
|
NC_000020.10:g.(35575208_35579838)_(35580247_?)del
|
|
|
NC_000020.10:g.(?_35521335)_(35580046_?)del
|
|
|
NC_000020.10:g.(?_35545115)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35555575)_(35559288_?)del
|
|
|
NC_000020.10:g.(?_35563412)_(35563612_?)del
|
|
|
NC_000020.10:g.(?_35563422)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35575121)_(35580046_?)del
|
|
|
NC_000020.10:g.(?_61987307)_(62329916_?)del
|
|
|
NC_000020.10:g.(?_62075992)_(62324656_?)del
|
|
|
NC_000020.10:g.(?_62290746)_(62290867_?)del
|
|
|
NC_000020.10:g.(?_62290746)_(62312082_?)del
|
|
|
NC_000020.10:g.(?_62298812)_(62298916_?)del
|
|
|
NC_000020.10:g.(?_62298812)_(62303984_?)del
|
|
|
NC_000020.10:g.(?_62309478)_(62329916_?)del
|
|
|
NC_000020.10:g.(?_62309488)_(62312082_?)del
|
|
|
NC_000020.10:g.(?_62316856)_(62327211_?)del
|
|
|
NC_000020.11:g.(36898545_36904156)_(36951644_?)del
|
|
|
NC_000020.11:g.(?_10405227)_(10413534_?)del
|
|
|
NC_000020.11:g.(?_36946728)_(36951653_?)del
|
|
|
NC_000020.11:g.(?_36951416)_(36951663_?)del
|
|
|
NC_000020.11:g.(?_36951426)_(36951653_?)del
|
|
|
NC_000020.11:g.(?_36951436)_(36951643_?)del
|
|
|
NC_000020.11:g.25387767_25393170del
|
|
|
NC_000020.11:g.36935169_36935190dup
|
|
|
NC_000021.8:g.(?_46309171)_(46310157_?)del
|
|
|
NC_000022.10:g.(?_18561143)_(18568044_?)del
|
|
|
NC_000022.10:g.(?_18561143)_(18613903_?)del
|
|
|
NC_000022.10:g.(?_41282297)_(41282539_?)del
|
|
|
NG_007083.1:g.371658_507674del
|
|
|
NG_007558.2:g.(60799_60814)_(77206_77221)del
|
|
|
NG_008340.2:g.(25377_66267)_(66353_129292)del
|
|
|
NG_008845.2:g.6725GAA[(200_900)]
|
|
|
NG_008852.1:g.[135909G>T;8170_32961del24792]
|
|
|
NG_009815.1:g.19647-?_28496+?dup
|
|
|
NG_011593.1:g.55397_56585delins59701_59837invGCCCA
|
|
|
NG_012741.1:g.(?_5001)_(37693_?)del
|
|
|
NG_016465.3:g.(37526_37529)_(58606_58609)del
|
|
|
NG_016465.4:g.13126_48866dup
|
|
|
NG_023416.2:g.(88604_176551)_(176714_576894)del
|
|
|
NG_032035.1:g.(5265_10701)_(10758_27654)del
|
|
|
NG_050967.1:g.291668_510915del
|
|
|
NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del
|
|
|
NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del
|
|
|
NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del
|
|
|
NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup
|
|
|
NM_000019.4(ACAT1):c.1006-1G>A
|
rs1131691567
|
|
NM_000019.4(ACAT1):c.1006-1G>C
|
rs1131691567
|
|
NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs)
|
rs1591374544
|
|
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)
|
rs387906282
|
|
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs)
|
rs1565297723
|
|
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)
|
rs781496140
|
|
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)
|
rs1338023969
|
|
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)
|
rs1367121673
|
|
NM_000019.4(ACAT1):c.104C>G (p.Ser35Ter)
|
|
|
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs)
|
rs387906283
|
|
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter)
|
rs2134791556
|
|
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)
|
rs2134791667
|
|
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter)
|
rs2134791703
|
|
NM_000019.4(ACAT1):c.1128_1131dup (p.Gly378fs)
|
rs2134791752
|
|
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr)
|
rs120074140
|
|
NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu)
|
rs773491386
|
|
NM_000019.4(ACAT1):c.1173dup (p.Ala392fs)
|
rs1565298653
|
|
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs)
|
rs2077737059
|
|
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)
|
rs746332363
|
|
NM_000019.4(ACAT1):c.120+374_731-68delinsTAA
|
|
|
NM_000019.4(ACAT1):c.121-13T>A
|
rs1591361903
|
|
NM_000019.4(ACAT1):c.121-3C>G
|
rs1591361919
|
|
NM_000019.4(ACAT1):c.1210C>T (p.Gln404Ter)
|
|
|
NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs)
|
rs1591375843
|
|
NM_000019.4(ACAT1):c.134dup (p.Ser46fs)
|
rs1444451434
|
|
NM_000019.4(ACAT1):c.149del (p.Thr50fs)
|
rs779565865
|
|
NM_000019.4(ACAT1):c.163T>A (p.Phe55Ile)
|
|
|
NM_000019.4(ACAT1):c.170del (p.Gly57fs)
|
|
|
NM_000019.4(ACAT1):c.1A>C (p.Met1Leu)
|
|
|
NM_000019.4(ACAT1):c.217C>T (p.Gln73Ter)
|
|
|
NM_000019.4(ACAT1):c.229del (p.Glu77fs)
|
rs2077411287
|
|
NM_000019.4(ACAT1):c.233del (p.Lys78fs)
|
rs2135334849
|
|
NM_000019.4(ACAT1):c.238+2T>A
|
rs2135334862
|
|
NM_000019.4(ACAT1):c.252del (p.Glu85fs)
|
rs2135336077
|
|
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
|
rs1201662412
|
|
NM_000019.4(ACAT1):c.272del (p.Met91fs)
|
|
|
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser)
|
rs1591362402
|
|
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser)
|
rs120074145
|
|
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)
|
rs1233969418
|
|
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys)
|
rs120074142
|
|
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr)
|
rs120074142
|
|
NM_000019.4(ACAT1):c.301C>T (p.Gln101Ter)
|
|
|
NM_000019.4(ACAT1):c.316C>T (p.Gln106Ter)
|
rs2135336400
|
|
NM_000019.4(ACAT1):c.330dup (p.Ala111fs)
|
|
|
NM_000019.4(ACAT1):c.334+1G>A
|
rs1591362533
|
|
NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs)
|
rs1591363674
|
|
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
|
|
|
NM_000019.4(ACAT1):c.372dup (p.Val125fs)
|
|
|
NM_000019.4(ACAT1):c.375_376del (p.Ala127fs)
|
|
|
NM_000019.4(ACAT1):c.378_379del (p.Ala127fs)
|
rs2135341631
|
|
NM_000019.4(ACAT1):c.381_396del (p.Ser128_Gly129insTer)
|
|
|
NM_000019.4(ACAT1):c.410_411insGGGCCTC (p.Gln138fs)
|
|
|
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs)
|
rs1591363800
|
|
NM_000019.4(ACAT1):c.433C>T (p.Gln145Ter)
|
|
|
NM_000019.4(ACAT1):c.435+1G>A
|
rs1591363834
|
|
NM_000019.4(ACAT1):c.446del (p.Val149fs)
|
rs1591367375
|
|
NM_000019.4(ACAT1):c.455_475del (p.Gly152_Asn158del)
|
|
|
NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs)
|
rs1591367422
|
|
NM_000019.4(ACAT1):c.483T>G (p.Tyr161Ter)
|
|
|
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs)
|
rs2135356039
|
|
NM_000019.4(ACAT1):c.52dup (p.Leu18fs)
|
rs1476273214
|
|
NM_000019.4(ACAT1):c.537del (p.Ile179fs)
|
rs1415293773
|
|
NM_000019.4(ACAT1):c.542_543del (p.Lys181fs)
|
|
|
NM_000019.4(ACAT1):c.552_555del (p.Thr185fs)
|
|
|
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.580-93_626del
|
|
|
NM_000019.4(ACAT1):c.619del (p.Ala207fs)
|
|
|
NM_000019.4(ACAT1):c.628G>T (p.Glu210Ter)
|
|
|
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter)
|
rs761282960
|
|
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
|
|
|
NM_000019.4(ACAT1):c.649_652dup (p.Ser218Ter)
|
|
|
NM_000019.4(ACAT1):c.64_72+10del
|
rs1318268067
|
|
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)
|
rs879255505
|
|
NM_000019.4(ACAT1):c.655_656insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTATTAATTCTT (p.Tyr219delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTrpSerArgSerProAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
rs2134761257
|
|
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
|
|
|
NM_000019.4(ACAT1):c.721dup (p.Thr241fs)
|
|
|
NM_000019.4(ACAT1):c.730+1G>A
|
rs1591368919
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
NM_000019.4(ACAT1):c.731-2A>G
|
rs752216720
|
|
NM_000019.4(ACAT1):c.731-46_752del
|
rs1591370141
|
|
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)
|
rs2134768525
|
|
NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs)
|
rs1591370221
|
|
NM_000019.4(ACAT1):c.75_76del (p.Glu25fs)
|
|
|
NM_000019.4(ACAT1):c.763G>T (p.Glu255Ter)
|
rs2134768688
|
|
NM_000019.4(ACAT1):c.76dup (p.Ile26fs)
|
|
|
NM_000019.4(ACAT1):c.787A>T (p.Lys263Ter)
|
rs2134768866
|
|
NM_000019.4(ACAT1):c.789del (p.Val264fs)
|
|
|
NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter)
|
rs1591360326
|
|
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
|
|
|
NM_000019.4(ACAT1):c.824del (p.Asn275fs)
|
rs1163072872
|
|
NM_000019.4(ACAT1):c.826+2T>C
|
rs2077590197
|
|
NM_000019.4(ACAT1):c.835del (p.Thr279fs)
|
|
|
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)
|
rs749873354
|
|
NM_000019.4(ACAT1):c.846dup (p.Ala283fs)
|
rs2134772571
|
|
NM_000019.4(ACAT1):c.869dup (p.Ala291fs)
|
|
|
NM_000019.4(ACAT1):c.86_87dup (p.Glu30fs)
|
rs1591360348
|
|
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.941-9T>A
|
rs980651269
|
|
NM_000019.4(ACAT1):c.962_963del (p.Glu321fs)
|
|
|
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
|
|
|
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)
|
rs1598277713
|
|
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)
|
rs763372958
|
|
NM_000023.4(SGCA):c.105del (p.Phe36fs)
|
rs2144493323
|
|
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)
|
rs2144493427
|
|
NM_000023.4(SGCA):c.168del (p.Ala57fs)
|
rs1555568264
|
|
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)
|
rs766400853
|
|
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
|
|
|
NM_000023.4(SGCA):c.203G>A (p.Gly68Glu)
|
rs2144494148
|
|
NM_000023.4(SGCA):c.203del (p.Gly68fs)
|
rs1567739228
|
|
NM_000023.4(SGCA):c.218C>G (p.Pro73Arg)
|
|
|
NM_000023.4(SGCA):c.225del (p.Trp75fs)
|
|
|
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)
|
rs1555568335
|
|
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
|
|
|
NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter)
|
rs1598265248
|
|
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)
|
rs1567739339
|
|
NM_000023.4(SGCA):c.238C>T (p.Gln80Ter)
|
rs2144494297
|
|
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)
|
rs398123098
|
|
NM_000023.4(SGCA):c.250dup (p.His84fs)
|
|
|
NM_000023.4(SGCA):c.265C>T (p.Leu89Phe)
|
rs773161308
|
|
NM_000023.4(SGCA):c.26dup (p.Leu10fs)
|
rs1904771410
|
|
NM_000023.4(SGCA):c.292C>G (p.Arg98Gly)
|
rs138945081
|
|
NM_000023.4(SGCA):c.293G>C (p.Arg98Pro)
|
rs137852621
|
|
NM_000023.4(SGCA):c.29_33del (p.Leu10fs)
|
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
|
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
|
|
|
NM_000023.4(SGCA):c.317_318del (p.Thr106fs)
|
rs1567739735
|
|
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)
|
rs1555568518
|
|
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)
|
rs752640127
|
|
NM_000023.4(SGCA):c.364C>G (p.Leu122Val)
|
rs1567739857
|
|
NM_000023.4(SGCA):c.377dup (p.Asp126fs)
|
rs1905070544
|
|
NM_000023.4(SGCA):c.391del (p.Leu131fs)
|
rs144356125
|
|
NM_000023.4(SGCA):c.402C>A (p.Tyr134Ter)
|
rs780264754
|
|
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.408del (p.Glu137fs)
|
rs1905103030
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.410A>G (p.Glu137Gly)
|
rs397514451
|
|
NM_000023.4(SGCA):c.464del (p.Ser155fs)
|
rs1555568775
|
|
NM_000023.4(SGCA):c.488del (p.Gly163fs)
|
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
NM_000023.4(SGCA):c.524T>C (p.Val175Ala)
|
rs137852622
|
|
NM_000023.4(SGCA):c.585-2A>C
|
rs1555568965
|
|
NM_000023.4(SGCA):c.596del (p.Lys199fs)
|
|
|
NM_000023.4(SGCA):c.618_619del (p.Ser207fs)
|
|
|
NM_000023.4(SGCA):c.658_659del (p.Ala220fs)
|
rs1905167458
|
|
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter)
|
rs1567741398
|
|
NM_000023.4(SGCA):c.70C>T (p.Gln24Ter)
|
rs2144493135
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000023.4(SGCA):c.747+1G>A
|
rs886043392
|
|
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)
|
rs1057517377
|
|
NM_000023.4(SGCA):c.770del (p.Pro257fs)
|
rs886043962
|
|
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs)
|
rs1905254738
|
|
NM_000023.4(SGCA):c.801dup (p.Ile268fs)
|
rs1905256830
|
|
NM_000023.4(SGCA):c.828C>A (p.Cys276Ter)
|
rs2144500924
|
|
NM_000023.4(SGCA):c.862del (p.Val288fs)
|
rs2144501024
|
|
NM_000023.4(SGCA):c.86dup (p.His29fs)
|
rs1904986620
|
|
NM_000023.4(SGCA):c.904del (p.Leu302fs)
|
rs2144501172
|
|
NM_000023.4(SGCA):c.905T>G (p.Leu302Arg)
|
rs760989961
|
|
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)
|
rs1555569329
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000023.4(SGCA):c.957-1G>T
|
rs2144502043
|
|
NM_000023.4(SGCA):c.95T>C (p.Val32Ala)
|
rs1017592342
|
|
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.1043dup (p.Met348fs)
|
rs1567038003
|
|
NM_000057.4(BLM):c.1051C>T (p.Gln351Ter)
|
|
|
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)
|
rs1057517030
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1093C>T (p.Gln365Ter)
|
|
|
NM_000057.4(BLM):c.1093_1096del (p.Arg364_Gln365insTer)
|
rs2151157115
|
|
NM_000057.4(BLM):c.1129del (p.Glu377fs)
|
rs1555419710
|
|
NM_000057.4(BLM):c.1154del (p.Thr385fs)
|
|
|
NM_000057.4(BLM):c.1173_1180dup (p.Leu394Ter)
|
rs1596228957
|
|
NM_000057.4(BLM):c.1176dup (p.Leu393fs)
|
rs1358266880
|
|
NM_000057.4(BLM):c.1180_1181del (p.Leu394fs)
|
rs758132052
|
|
NM_000057.4(BLM):c.1195G>T (p.Glu399Ter)
|
|
|
NM_000057.4(BLM):c.1204dup (p.Gln402fs)
|
|
|
NM_000057.4(BLM):c.1220+3A>G
|
rs1429490877
|
|
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)
|
rs1350192744
|
|
NM_000057.4(BLM):c.1231_1232delinsTA (p.Leu411Ter)
|
|
|
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter)
|
rs887921909
|
|
NM_000057.4(BLM):c.1237_1240del (p.Thr412_Glu413insTer)
|
|
|
NM_000057.4(BLM):c.124_127del (p.Ser42fs)
|
|
|
NM_000057.4(BLM):c.1254_1255del (p.Lys418_Ser419insTer)
|
rs1895946786
|
|
NM_000057.4(BLM):c.1255del (p.Ser419fs)
|
rs1895946786
|
|
NM_000057.4(BLM):c.1289_1290insAT (p.Tyr430Ter)
|
rs749512704
|
|
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)
|
|
|
NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer)
|
rs1555419806
|
|
NM_000057.4(BLM):c.1316del (p.Met439fs)
|
rs1555419829
|
|
NM_000057.4(BLM):c.1341del (p.Asn448fs)
|
rs2151158046
|
|
NM_000057.4(BLM):c.1346del (p.Ser449fs)
|
rs2151158066
|
|
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter)
|
rs730881428
|
|
NM_000057.4(BLM):c.1361del (p.Asn454fs)
|
rs2151158091
|
|
NM_000057.4(BLM):c.1374del (p.Ser460fs)
|
|
|
NM_000057.4(BLM):c.1399dup (p.Asp467fs)
|
rs1555419862
|
|
NM_000057.4(BLM):c.1410_1413del (p.Thr471fs)
|
rs2151158165
|
|
NM_000057.4(BLM):c.1427del (p.Lys476fs)
|
|
|
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)
|
rs1555419873
|
|
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs)
|
|
|
NM_000057.4(BLM):c.1440dup (p.Ala481fs)
|
rs1596229894
|
|
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
|
|
|
NM_000057.4(BLM):c.1462G>T (p.Glu488Ter)
|
rs1477193473
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
NM_000057.4(BLM):c.1487del (p.Leu496fs)
|
rs2151158316
|
|
NM_000057.4(BLM):c.1489C>T (p.Gln497Ter)
|
rs2151158321
|
|
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)
|
rs2151158332
|
|
NM_000057.4(BLM):c.1535dup (p.Asn515fs)
|
rs2151158428
|
|
NM_000057.4(BLM):c.1537A>T (p.Lys513Ter)
|
|
|
NM_000057.4(BLM):c.1544del (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1546G>T (p.Glu516Ter)
|
rs1596230118
|
|
NM_000057.4(BLM):c.1549dup (p.Ser517fs)
|
rs1555419902
|
|
NM_000057.4(BLM):c.1565del (p.Gly522fs)
|
rs1895965271
|
|
NM_000057.4(BLM):c.1603A>T (p.Lys535Ter)
|
|
|
NM_000057.4(BLM):c.1622del (p.Asn541fs)
|
|
|
NM_000057.4(BLM):c.1624del (p.Asp542fs)
|
rs747498968
|
|
NM_000057.4(BLM):c.1628T>G (p.Leu543Ter)
|
rs367543038
|
|
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)
|
rs1205301894
|
|
NM_000057.4(BLM):c.1641_1642insAGAAAGAGAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA (p.Gln548delinsArgLysArgAsnProAlaGlyArgGlyGlySerArgLeuTer)
|
rs2151158659
|
|
NM_000057.4(BLM):c.1642_1643insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAACCC (p.Gln548delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer)
|
rs2151158629
|
|
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.1732A>T (p.Lys578Ter)
|
rs2151158869
|
|
NM_000057.4(BLM):c.1752del (p.Gln585fs)
|
rs1555419961
|
|
NM_000057.4(BLM):c.175_176del (p.Val59fs)
|
rs2151146787
|
|
NM_000057.4(BLM):c.1763del (p.Lys588fs)
|
|
|
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)
|
rs1057516956
|
|
NM_000057.4(BLM):c.1765del (p.Glu589fs)
|
|
|
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter)
|
rs138943954
|
|
NM_000057.4(BLM):c.1794_1797del (p.Glu598fs)
|
rs2151158979
|
|
NM_000057.4(BLM):c.1805C>A (p.Ser602Ter)
|
|
|
NM_000057.4(BLM):c.1817_1818insGT (p.Asp606fs)
|
|
|
NM_000057.4(BLM):c.1820_1821insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu608fs)
|
rs2151159067
|
|
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)
|
|
|
NM_000057.4(BLM):c.1832C>G (p.Ser611Ter)
|
|
|
NM_000057.4(BLM):c.1864_1865del (p.Ser622fs)
|
rs2151159180
|
|
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)
|
|
|
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter)
|
rs2151160492
|
|
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)
|
|
|
NM_000057.4(BLM):c.1921del (p.His641fs)
|
|
|
NM_000057.4(BLM):c.1928del (p.Arg643fs)
|
rs2151160567
|
|
NM_000057.4(BLM):c.196_197insCTCTTTTCTAAGGAAGGCAAAACAAAAGCATTTAAAAACTAATTTAATTAAGGTTAAAAATTCATCTGCCGCTGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATAAAGATGTTA (p.Asn66delinsThrLeuPheTer)
|
|
|
NM_000057.4(BLM):c.1977del (p.His660fs)
|
|
|
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)
|
rs762804291
|
|
NM_000057.4(BLM):c.1991_1992insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCNNNNNNNNNNACGGGTCGCTGGCGTTGAGCCGCTTTTGCCCCACTCACGTCCGCCGTCCCCCCGGGGCTACACAGCCATAAACCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGG (p.Leu665fs)
|
|
|
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter)
|
rs1596232266
|
|
NM_000057.4(BLM):c.2020G>T (p.Glu674Ter)
|
|
|
NM_000057.4(BLM):c.2054_2055del (p.Cys685fs)
|
|
|
NM_000057.4(BLM):c.2074+5G>A
|
rs587779880
|
|
NM_000057.4(BLM):c.2078del (p.Gly693fs)
|
rs1896091563
|
|
NM_000057.4(BLM):c.2079_2080del (p.Gly693_Gly694insTer)
|
|
|
NM_000057.4(BLM):c.2093_2096dup (p.Tyr699Ter)
|
rs753973474
|
|
NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter)
|
rs1896092339
|
|
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs)
|
|
|
NM_000057.4(BLM):c.2131_2132del (p.Val711fs)
|
rs2151162445
|
|
NM_000057.4(BLM):c.213_214del (p.Ser72fs)
|
rs960430492
|
|
NM_000057.4(BLM):c.2160_2163dup (p.Asp722fs)
|
rs2151162486
|
|
NM_000057.4(BLM):c.2167C>T (p.Gln723Ter)
|
rs2151162501
|
|
NM_000057.4(BLM):c.2186_2187del (p.Ser729fs)
|
|
|
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.2206_2207insTAGA (p.Tyr736fs)
|
rs2151163791
|
|
NM_000057.4(BLM):c.2206dup (p.Tyr736fs)
|
rs886051551
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000057.4(BLM):c.2208T>G (p.Tyr736Ter)
|
|
|
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer)
|
rs1596235791
|
|
NM_000057.4(BLM):c.2209C>A (p.Leu737Met)
|
|
|
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter)
|
rs1896146578
|
|
NM_000057.4(BLM):c.2225del (p.Thr742fs)
|
|
|
NM_000057.4(BLM):c.2242_2255del (p.Asn748fs)
|
|
|
NM_000057.4(BLM):c.2268del (p.Asp757fs)
|
rs747341586
|
|
NM_000057.4(BLM):c.227del (p.Pro76fs)
|
rs1299272913
|
|
NM_000057.4(BLM):c.2281_2291del (p.Lys761fs)
|
rs2151163995
|
|
NM_000057.4(BLM):c.2284del (p.Leu762fs)
|
rs2151164000
|
|
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)
|
rs1555420602
|
|
NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter)
|
rs2151164019
|
|
NM_000057.4(BLM):c.2308-953_2555+4719del
|
|
|
NM_000057.4(BLM):c.230dup (p.Pro78fs)
|
|
|
NM_000057.4(BLM):c.2324_2325del (p.Arg775fs)
|
|
|
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.2353_2354insTT (p.Glu785fs)
|
rs1567045130
|
|
NM_000057.4(BLM):c.2385del (p.Asp795fs)
|
rs2151165798
|
|
NM_000057.4(BLM):c.2404C>T (p.Gln802Ter)
|
rs2151165848
|
|
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)
|
rs1567045235
|
|
NM_000057.4(BLM):c.2406+2T>G
|
rs367543016
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter)
|
rs1896235438
|
|
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)
|
rs1412341951
|
|
NM_000057.4(BLM):c.2411del (p.Gly804fs)
|
rs2151166065
|
|
NM_000057.4(BLM):c.2420_2424del (p.Phe807fs)
|
|
|
NM_000057.4(BLM):c.2448del (p.Met816fs)
|
rs1896237929
|
|
NM_000057.4(BLM):c.2449_2450insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGGCTCCCTCTCCCTCTCCCGGCGCGCGCTCGCGCTCCCGTGGCCGGGTGCCGCTCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAATGAATATGC (p.Leu817fs)
|
|
|
NM_000057.4(BLM):c.2456del (p.Gln819fs)
|
|
|
NM_000057.4(BLM):c.2493del (p.Thr832fs)
|
rs2151166250
|
|
NM_000057.4(BLM):c.2506del (p.Arg836fs)
|
rs1567045531
|
|
NM_000057.4(BLM):c.2510_2513dup (p.Gln838fs)
|
|
|
NM_000057.4(BLM):c.2539del (p.Ile847fs)
|
rs770751979
|
|
NM_000057.4(BLM):c.2559del (p.Phe853fs)
|
rs2151178019
|
|
NM_000057.4(BLM):c.2579del (p.His860fs)
|
rs2151178044
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
NM_000057.4(BLM):c.2592C>G (p.Tyr864Ter)
|
rs1896651394
|
|
NM_000057.4(BLM):c.2594_2598del (p.Tyr865fs)
|
|
|
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)
|
rs1060503989
|
|
NM_000057.4(BLM):c.2620del (p.Val874fs)
|
|
|
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter)
|
rs367543039
|
|
NM_000057.4(BLM):c.2650_2651del (p.Lys884fs)
|
rs1596250472
|
|
NM_000057.4(BLM):c.2664T>A (p.Tyr888Ter)
|
|
|
NM_000057.4(BLM):c.2721dup (p.Leu908fs)
|
|
|
NM_000057.4(BLM):c.2725C>T (p.Gln909Ter)
|
rs1456964727
|
|
NM_000057.4(BLM):c.2781del (p.Asp928fs)
|
|
|
NM_000057.4(BLM):c.2791C>T (p.Gln931Ter)
|
|
|
NM_000057.4(BLM):c.2791_2801del (p.Gln931fs)
|
|
|
NM_000057.4(BLM):c.2794C>T (p.Gln932Ter)
|
rs2151179928
|
|
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)
|
rs1896712163
|
|
NM_000057.4(BLM):c.2809C>T (p.Gln937Ter)
|
rs1596252279
|
|
NM_000057.4(BLM):c.2818dup (p.Cys940fs)
|
rs2151179952
|
|
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)
|
rs1309932713
|
|
NM_000057.4(BLM):c.2868_2869insTCCG (p.Asp957fs)
|
|
|
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter)
|
rs762354041
|
|
NM_000057.4(BLM):c.28C>T (p.Gln10Ter)
|
|
|
NM_000057.4(BLM):c.2900del (p.Pro967fs)
|
rs2151184555
|
|
NM_000057.4(BLM):c.2917del (p.Tyr973fs)
|
rs2151184585
|
|
NM_000057.4(BLM):c.2923C>T (p.Gln975Ter)
|
|
|
NM_000057.4(BLM):c.2923del (p.Gln975fs)
|
rs367543014
|
|
NM_000057.4(BLM):c.2926G>T (p.Glu976Ter)
|
|
|
NM_000057.4(BLM):c.2957del (p.Ile986fs)
|
|
|
NM_000057.4(BLM):c.2980del (p.Thr994fs)
|
rs1164844135
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
NM_000057.4(BLM):c.2991_2995del (p.Val998fs)
|
rs2151184718
|
|
NM_000057.4(BLM):c.299dup (p.Arg101fs)
|
|
|
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)
|
|
|
NM_000057.4(BLM):c.3011_3012del (p.Leu1004fs)
|
rs2151184759
|
|
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)
|
rs1555423119
|
|
NM_000057.4(BLM):c.301_304del (p.Arg101fs)
|
rs1489224386
|
|
NM_000057.4(BLM):c.3026_3041dup (p.His1014fs)
|
|
|
NM_000057.4(BLM):c.3068del (p.Leu1023fs)
|
|
|
NM_000057.4(BLM):c.3069del (p.Leu1023fs)
|
|
|
NM_000057.4(BLM):c.3079_3080del (p.Val1027fs)
|
|
|
NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter)
|
rs1896974524
|
|
NM_000057.4(BLM):c.3095dup (p.Asn1032fs)
|
|
|
NM_000057.4(BLM):c.3102_3103delinsAT (p.Glu1035Ter)
|
|
|
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe)
|
rs137853153
|
|
NM_000057.4(BLM):c.3118C>T (p.Gln1040Ter)
|
|
|
NM_000057.4(BLM):c.311C>A (p.Ser104Ter)
|
rs367543030
|
|
NM_000057.4(BLM):c.3125del (p.Leu1042fs)
|
rs1896976755
|
|
NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter)
|
rs1188753950
|
|
NM_000057.4(BLM):c.3163dup (p.Cys1055fs)
|
rs2151187381
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.3171_3172insT (p.His1058fs)
|
|
|
NM_000057.4(BLM):c.320dup (p.Leu107fs)
|
rs781221411
|
|
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)
|
rs1555423753
|
|
NM_000057.4(BLM):c.3261del (p.Phe1087fs)
|
rs1319786857
|
|
NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter)
|
rs367543017
|
|
NM_000057.4(BLM):c.3299del (p.Ile1100fs)
|
|
|
NM_000057.4(BLM):c.3305_3306del (p.His1102fs)
|
rs1057516253
|
|
NM_000057.4(BLM):c.3367_3368del (p.Ser1123fs)
|
rs2151194158
|
|
NM_000057.4(BLM):c.3379C>T (p.Gln1127Ter)
|
rs1897212605
|
|
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
|
|
|
NM_000057.4(BLM):c.3467del (p.Asp1156fs)
|
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
|
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter)
|
rs1596267627
|
|
NM_000057.4(BLM):c.3499del (p.Ala1167fs)
|
rs1555424305
|
|
NM_000057.4(BLM):c.3508del (p.Tyr1170fs)
|
rs1555424311
|
|
NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter)
|
|
|
NM_000057.4(BLM):c.3535del (p.Thr1179fs)
|
|
|
NM_000057.4(BLM):c.3558+1G>A
|
rs148969222
|
|
NM_000057.4(BLM):c.3558+2T>C
|
rs1897222054
|
|
NM_000057.4(BLM):c.3564del (p.Phe1189fs)
|
rs1486692931
|
|
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs)
|
rs1555424372
|
|
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs)
|
rs1567063125
|
|
NM_000057.4(BLM):c.3577_3578del (p.Glu1193fs)
|
|
|
NM_000057.4(BLM):c.357_358del (p.Cys120fs)
|
rs748186908
|
|
NM_000057.4(BLM):c.3587del (p.Ser1196fs)
|
rs367543018
|
|
NM_000057.4(BLM):c.3589del (p.Ser1197fs)
|
rs1555424376
|
|
NM_000057.4(BLM):c.358_359dup (p.Thr121fs)
|
|
|
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)
|
|
|
NM_000057.4(BLM):c.3611del (p.Ala1203_Leu1204insTer)
|
|
|
NM_000057.4(BLM):c.3616del (p.Ala1206fs)
|
rs2151194859
|
|
NM_000057.4(BLM):c.3628C>T (p.Gln1210Ter)
|
|
|
NM_000057.4(BLM):c.3634G>T (p.Glu1212Ter)
|
rs1897234496
|
|
NM_000057.4(BLM):c.3638del (p.Glu1213fs)
|
rs1057516547
|
|
NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter)
|
rs2151194897
|
|
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)
|
rs1897236255
|
|
NM_000057.4(BLM):c.3681dup (p.Ser1228fs)
|
rs367543020
|
|
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs)
|
rs1234064430
|
|
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs)
|
rs1897238597
|
|
NM_000057.4(BLM):c.3753del (p.Glu1251fs)
|
rs1275708646
|
|
NM_000057.4(BLM):c.3755_3758del (p.Ser1252fs)
|
rs2151198261
|
|
NM_000057.4(BLM):c.3758T>G (p.Leu1253Ter)
|
rs2151198266
|
|
NM_000057.4(BLM):c.375_376del (p.Pro126fs)
|
rs1895612617
|
|
NM_000057.4(BLM):c.3779T>A (p.Leu1260Ter)
|
|
|
NM_000057.4(BLM):c.3784C>T (p.Gln1262Ter)
|
|
|
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
|
|
|
NM_000057.4(BLM):c.3845del (p.Leu1282fs)
|
rs1897350204
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
NM_000057.4(BLM):c.3854_3857del (p.Tyr1285fs)
|
rs2151198369
|
|
NM_000057.4(BLM):c.3860_3863del (p.Glu1287fs)
|
rs2151198382
|
|
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter)
|
rs2151198389
|
|
NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter)
|
rs2151198391
|
|
NM_000057.4(BLM):c.3869del (p.Ser1290fs)
|
rs2151198402
|
|
NM_000057.4(BLM):c.3890del (p.Pro1297fs)
|
rs1555425062
|
|
NM_000057.4(BLM):c.390del (p.Lys130fs)
|
rs2151147261
|
|
NM_000057.4(BLM):c.3960dup (p.Val1321fs)
|
rs1567066891
|
|
NM_000057.4(BLM):c.397dup (p.Asp133fs)
|
rs2151147279
|
|
NM_000057.4(BLM):c.3991A>T (p.Arg1331Ter)
|
|
|
NM_000057.4(BLM):c.4002_4003delinsAT (p.Lys1335Ter)
|
|
|
NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter)
|
rs2151199939
|
|
NM_000057.4(BLM):c.440_443del (p.Asp146_Ser147insTer)
|
rs1895617043
|
|
NM_000057.4(BLM):c.461G>A (p.Trp154Ter)
|
|
|
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)
|
rs1555418352
|
|
NM_000057.4(BLM):c.487del (p.Ser163fs)
|
|
|
NM_000057.4(BLM):c.497C>G (p.Ser166Ter)
|
rs896357448
|
|
NM_000057.4(BLM):c.511dup (p.Thr171fs)
|
|
|
NM_000057.4(BLM):c.522_523del (p.His176fs)
|
|
|
NM_000057.4(BLM):c.557C>A (p.Ser186Ter)
|
|
|
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer)
|
rs367543035
|
|
NM_000057.4(BLM):c.566del (p.Gly189fs)
|
rs2151147614
|
|
NM_000057.4(BLM):c.572_573del (p.Arg191fs)
|
rs2151147628
|
|
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)
|
rs367543026
|
|
NM_000057.4(BLM):c.582_595del (p.Phe194fs)
|
|
|
NM_000057.4(BLM):c.582del (p.Phe194fs)
|
rs367543026
|
|
NM_000057.4(BLM):c.583A>T (p.Lys195Ter)
|
rs2151147654
|
|
NM_000057.4(BLM):c.589C>T (p.Gln197Ter)
|
rs2151147666
|
|
NM_000057.4(BLM):c.604_607del (p.Asn202fs)
|
rs774777021
|
|
NM_000057.4(BLM):c.608_609del (p.Thr203fs)
|
rs1170049553
|
|
NM_000057.4(BLM):c.619del (p.Asp207fs)
|
rs1596218981
|
|
NM_000057.4(BLM):c.623del (p.Leu208fs)
|
rs2151147765
|
|
NM_000057.4(BLM):c.623dup (p.Leu208fs)
|
|
|
NM_000057.4(BLM):c.638_639del (p.Ser212_Ser213insTer)
|
|
|
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
|
|
|
NM_000057.4(BLM):c.689G>A (p.Trp230Ter)
|
rs2151147939
|
|
NM_000057.4(BLM):c.700_710del (p.Asp234fs)
|
rs2151147969
|
|
NM_000057.4(BLM):c.700_713del (p.Asp234fs)
|
rs1567035745
|
|
NM_000057.4(BLM):c.709del (p.Cys237fs)
|
rs1217879599
|
|
NM_000057.4(BLM):c.729del (p.Ile243fs)
|
|
|
NM_000057.4(BLM):c.74T>G (p.Leu25Ter)
|
rs1895534883
|
|
NM_000057.4(BLM):c.757del (p.Gln253fs)
|
rs2151148137
|
|
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
|
|
|
NM_000057.4(BLM):c.760G>T (p.Glu254Ter)
|
rs181892828
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_000057.4(BLM):c.77_87del (p.Ser26fs)
|
|
|
NM_000057.4(BLM):c.789dup (p.Asp264fs)
|
rs2151148207
|
|
NM_000057.4(BLM):c.800-2A>G
|
rs1895690125
|
|
NM_000057.4(BLM):c.811_815del (p.Lys271fs)
|
|
|
NM_000057.4(BLM):c.814A>T (p.Lys272Ter)
|
|
|
NM_000057.4(BLM):c.826del (p.Glu276fs)
|
rs2151149553
|
|
NM_000057.4(BLM):c.829G>T (p.Glu277Ter)
|
rs1596221020
|
|
NM_000057.4(BLM):c.835G>T (p.Glu279Ter)
|
rs1567036566
|
|
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer)
|
rs1567036579
|
|
NM_000057.4(BLM):c.83C>G (p.Ser28Ter)
|
rs2151145090
|
|
NM_000057.4(BLM):c.83del (p.Leu27_Ser28insTer)
|
rs2151145092
|
|
NM_000057.4(BLM):c.842del (p.His281fs)
|
rs1895692863
|
|
NM_000057.4(BLM):c.855del (p.Val286fs)
|
rs2151149598
|
|
NM_000057.4(BLM):c.864del (p.Pro287_Cys288insTer)
|
|
|
NM_000057.4(BLM):c.919G>T (p.Glu307Ter)
|
rs766386787
|
|
NM_000057.4(BLM):c.959+2T>C
|
|
|
NM_000057.4(BLM):c.97dup (p.Ser33fs)
|
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_000057.4(BLM):c.982del (p.Ser328fs)
|
|
|
NM_000057.4(BLM):c.984del (p.Asp329fs)
|
rs2151152104
|
|
NM_000057.4(BLM):c.99-8_112del
|
rs2151146678
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|
NM_000057.4(BLM):c.993del (p.Glu332fs)
|
rs2151152131
|
|
NM_000057.4(BLM):c.[1544dup;2468del]
|
|
|
NM_000057.4(BLM):c.[2265_2268dup;2441T>A]
|
|
|
NM_000057.4(BLM):c.[289C>T;649C>T]
|
|
|
NM_000067.3(CA2):c.120T>G (p.Tyr40Ter)
|
rs118203934
|
|
NM_000067.3(CA2):c.21C>A (p.Tyr7Ter)
|
rs1554709677
|
|
NM_000067.3(CA2):c.232+1G>A
|
rs573750741
|
|
NM_000067.3(CA2):c.610G>T (p.Glu204Ter)
|
|
|
NM_000067.3(CA2):c.621del (p.Trp208fs)
|
|
|
NM_000067.3(CA2):c.630_641delinsCACA (p.Leu211fs)
|
|
|
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.[1319G>A];[319G>T]
|
|
|
NM_000070.3(CAPN3):c.1002del (p.His334fs)
|
|
|
NM_000070.3(CAPN3):c.1008C>G (p.Tyr336Ter)
|
|
|
NM_000070.3(CAPN3):c.100del (p.Ala34fs)
|
rs2052593499
|
|
NM_000070.3(CAPN3):c.1012_1013del (p.Val338fs)
|
rs2141176996
|
|
NM_000070.3(CAPN3):c.1029+1G>A
|
rs2141177054
|
|
NM_000070.3(CAPN3):c.1030-1G>A
|
rs1555421263
|
|
NM_000070.3(CAPN3):c.1043del (p.Gly348fs)
|
rs781013226
|
|
NM_000070.3(CAPN3):c.1050del (p.Lys350_Val351insTer)
|
|
|
NM_000070.3(CAPN3):c.1055del (p.Lys352fs)
|
|
|
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)
|
rs794727895
|
|
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter)
|
rs1555421280
|
|
NM_000070.3(CAPN3):c.107del (p.Gly36fs)
|
|
|
NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)
|
rs267606703
|
|
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)
|
rs1595828703
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter)
|
rs1555421523
|
|
NM_000070.3(CAPN3):c.1120_1171del (p.Lys374fs)
|
|
|
NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter)
|
rs1555421524
|
|
NM_000070.3(CAPN3):c.1143del (p.Asp382fs)
|
|
|
NM_000070.3(CAPN3):c.1162C>T (p.Gln388Ter)
|
|
|
NM_000070.3(CAPN3):c.1193+6T>A
|
rs1555421532
|
|
NM_000070.3(CAPN3):c.1194-2A>G
|
rs2053804014
|
|
NM_000070.3(CAPN3):c.1207_1216del (p.Asp403fs)
|
|
|
NM_000070.3(CAPN3):c.1236_1288dup (p.Thr430fs)
|
|
|
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)
|
rs1293496023
|
|
NM_000070.3(CAPN3):c.1322del (p.Gly441fs)
|
rs1555421871
|
|
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro)
|
rs1595834751
|
|
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)
|
rs773827877
|
|
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)
|
rs773827877
|
|
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)
|
rs776043976
|
|
NM_000070.3(CAPN3):c.1343G>T (p.Arg448Leu)
|
rs863224956
|
|
NM_000070.3(CAPN3):c.1355-1G>C
|
rs747557404
|
|
NM_000070.3(CAPN3):c.1357dup (p.Thr453fs)
|
|
|
NM_000070.3(CAPN3):c.1363T>C (p.Trp455Arg)
|
rs2141199370
|
|
NM_000070.3(CAPN3):c.136_145del (p.Ile46fs)
|
|
|
NM_000070.3(CAPN3):c.1375C>T (p.Gln459Ter)
|
|
|
NM_000070.3(CAPN3):c.1455del (p.Met485fs)
|
rs2053876698
|
|
NM_000070.3(CAPN3):c.1456C>T (p.Gln486Ter)
|
rs2141199686
|
|
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)
|
rs863224958
|
|
NM_000070.3(CAPN3):c.1470del (p.Lys491fs)
|
|
|
NM_000070.3(CAPN3):c.1485del (p.Ala497fs)
|
rs1595837172
|
|
NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg)
|
rs761637940
|
|
NM_000070.3(CAPN3):c.1507_1511del (p.Gly503fs)
|
|
|
NM_000070.3(CAPN3):c.1513_1519dup (p.Tyr507fs)
|
|
|
NM_000070.3(CAPN3):c.1515_1518dup (p.Tyr507fs)
|
rs2141199970
|
|
NM_000070.3(CAPN3):c.1524+1G>A
|
rs1275289254
|
|
NM_000070.3(CAPN3):c.1524+1G>C
|
|
|
NM_000070.3(CAPN3):c.1524+1G>T
|
rs1275289254
|
|
NM_000070.3(CAPN3):c.1536+1G>T
|
|
|
NM_000070.3(CAPN3):c.1552C>T (p.Gln518Ter)
|
|
|
NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter)
|
rs2053910936
|
|
NM_000070.3(CAPN3):c.1576del (p.Leu526fs)
|
rs1595838545
|
|
NM_000070.3(CAPN3):c.1590dup (p.Lys531fs)
|
rs2141202919
|
|
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)
|
rs767739787
|
|
NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter)
|
rs752848213
|
|
NM_000070.3(CAPN3):c.1681T>C (p.Tyr561His)
|
|
|
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)
|
rs727503839
|
|
NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser)
|
rs886044483
|
|
NM_000070.3(CAPN3):c.1712del (p.Leu571fs)
|
|
|
NM_000070.3(CAPN3):c.1722del (p.Ser575fs)
|
rs1366387924
|
|
NM_000070.3(CAPN3):c.1740_1743del (p.Ser581fs)
|
rs2141203435
|
|
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)
|
rs886042573
|
|
NM_000070.3(CAPN3):c.1771del (p.Asp591fs)
|
rs754761503
|
|
NM_000070.3(CAPN3):c.1782+1072G>C
|
rs2053974373
|
|
NM_000070.3(CAPN3):c.1788_1791del (p.Lys598fs)
|
rs2141210355
|
|
NM_000070.3(CAPN3):c.1792_1795del (p.Lys598fs)
|
|
|
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)
|
rs80338803
|
|
NM_000070.3(CAPN3):c.1838del (p.Lys613fs)
|
rs1555422832
|
|
NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter)
|
rs1566983844
|
|
NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs)
|
rs2054085839
|
|
NM_000070.3(CAPN3):c.1895_1913dup (p.Pro639fs)
|
rs2141216768
|
|
NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter)
|
|
|
NM_000070.3(CAPN3):c.1933del (p.Asp645fs)
|
rs1595845459
|
|
NM_000070.3(CAPN3):c.1936C>T (p.Gln646Ter)
|
|
|
NM_000070.3(CAPN3):c.193del (p.His65fs)
|
rs2141102601
|
|
NM_000070.3(CAPN3):c.1963del (p.Arg655fs)
|
rs1566984441
|
|
NM_000070.3(CAPN3):c.1974_1975insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCGGAACATTTTC (p.Lys659fs)
|
|
|
NM_000070.3(CAPN3):c.1977_1978delinsCT (p.Lys659_Gln660delinsAsnTer)
|
rs2141219910
|
|
NM_000070.3(CAPN3):c.1978C>T (p.Gln660Ter)
|
|
|
NM_000070.3(CAPN3):c.1983dup (p.Ala662fs)
|
|
|
NM_000070.3(CAPN3):c.1985del (p.Ala662fs)
|
rs2141219970
|
|
NM_000070.3(CAPN3):c.1986del (p.Gly663fs)
|
|
|
NM_000070.3(CAPN3):c.1992+1G>A
|
|
|
NM_000070.3(CAPN3):c.1992+1G>T
|
rs863224961
|
|
NM_000070.3(CAPN3):c.1999G>T (p.Glu667Ter)
|
rs2141221307
|
|
NM_000070.3(CAPN3):c.1999dup (p.Glu667fs)
|
rs886044004
|
|
NM_000070.3(CAPN3):c.2019dup (p.Lys674fs)
|
rs2141221357
|
|
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs)
|
rs1555423021
|
|
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs)
|
rs886042418
|
|
NM_000070.3(CAPN3):c.2048_2051del (p.Lys683fs)
|
rs2054150380
|
|
NM_000070.3(CAPN3):c.2050+1G>A
|
rs768374736
|
|
NM_000070.3(CAPN3):c.2050+1G>C
|
rs768374736
|
|
NM_000070.3(CAPN3):c.2050+1del
|
rs1555423027
|
|
NM_000070.3(CAPN3):c.2050+1dup
|
rs2141221533
|
|
NM_000070.3(CAPN3):c.2051-1G>T
|
rs886042108
|
|
NM_000070.3(CAPN3):c.2069_2070del (p.His690fs)
|
rs1555423046
|
|
NM_000070.3(CAPN3):c.2118_2121del (p.Asp707fs)
|
rs1595846922
|
|
NM_000070.3(CAPN3):c.2119G>C (p.Asp707His)
|
rs886044427
|
|
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)
|
rs794727318
|
|
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.2179del (p.Trp727fs)
|
rs886042964
|
|
NM_000070.3(CAPN3):c.219del (p.Leu74fs)
|
rs2141102673
|
|
NM_000070.3(CAPN3):c.2201_2202del (p.His733_Tyr734insTer)
|
rs2054185246
|
|
NM_000070.3(CAPN3):c.2201del (p.Tyr734fs)
|
rs2141224217
|
|
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.2217C>G (p.Ser739=)
|
rs148851444
|
|
NM_000070.3(CAPN3):c.2226_2240del (p.Ile742_Glu746del)
|
|
|
NM_000070.3(CAPN3):c.2230del (p.Ser744fs)
|
rs2054186817
|
|
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter)
|
rs147774793
|
|
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs)
|
rs398123146
|
|
NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly)
|
rs768090444
|
|
NM_000070.3(CAPN3):c.2255dup (p.Asn752fs)
|
|
|
NM_000070.3(CAPN3):c.2263+1G>A
|
rs886044475
|
|
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)
|
rs775130589
|
|
NM_000070.3(CAPN3):c.2301del (p.Met768fs)
|
rs2141225604
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs)
|
rs764086484
|
|
NM_000070.3(CAPN3):c.2318_2321dup (p.His774fs)
|
rs1457010016
|
|
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter)
|
rs1447774727
|
|
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)
|
rs1555423217
|
|
NM_000070.3(CAPN3):c.237del (p.Glu79fs)
|
rs760205277
|
|
NM_000070.3(CAPN3):c.2380+1G>A
|
rs1555423222
|
|
NM_000070.3(CAPN3):c.2380+1G>T
|
rs1555423222
|
|
NM_000070.3(CAPN3):c.2380+2T>G
|
rs761935462
|
|
NM_000070.3(CAPN3):c.2381-2A>G
|
rs863224962
|
|
NM_000070.3(CAPN3):c.2440-2A>G
|
rs769688710
|
|
NM_000070.3(CAPN3):c.245del (p.Pro82fs)
|
|
|
NM_000070.3(CAPN3):c.257del (p.Ser86fs)
|
|
|
NM_000070.3(CAPN3):c.261_262del (p.Phe88fs)
|
rs763649825
|
|
NM_000070.3(CAPN3):c.264_265del (p.Phe88fs)
|
rs2141102811
|
|
NM_000070.3(CAPN3):c.286C>T (p.Gln96Ter)
|
rs1476836379
|
|
NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu)
|
rs758058910
|
|
NM_000070.3(CAPN3):c.319G>T (p.Glu107Ter)
|
rs1801505
|
|
NM_000070.3(CAPN3):c.321_330del (p.Glu107fs)
|
|
|
NM_000070.3(CAPN3):c.322_334dup (p.Ile112fs)
|
rs1555420075
|
|
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)
|
rs797045427
|
|
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)
|
rs121434545
|
|
NM_000070.3(CAPN3):c.346del (p.Ala116fs)
|
|
|
NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp)
|
rs2053335268
|
|
NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys)
|
rs886043437
|
|
NM_000070.3(CAPN3):c.380-1G>A
|
|
|
NM_000070.3(CAPN3):c.380-2A>G
|
|
|
NM_000070.3(CAPN3):c.380G>A (p.Gly127Glu)
|
|
|
NM_000070.3(CAPN3):c.382del
|
rs2141160425
|
|
NM_000070.3(CAPN3):c.389G>A (p.Trp130Ter)
|
rs2141160443
|
|
NM_000070.3(CAPN3):c.390del (p.Trp130fs)
|
|
|
NM_000070.3(CAPN3):c.3G>T (p.Met1Ile)
|
|
|
NM_000070.3(CAPN3):c.402del (p.Ile135fs)
|
rs746935735
|
|
NM_000070.3(CAPN3):c.412dup (p.Leu138fs)
|
rs2141160513
|
|
NM_000070.3(CAPN3):c.427del (p.His143fs)
|
|
|
NM_000070.3(CAPN3):c.433del (p.Leu145fs)
|
rs2141160577
|
|
NM_000070.3(CAPN3):c.444del (p.Ile149fs)
|
rs2053401167
|
|
NM_000070.3(CAPN3):c.483del (p.Ile162fs)
|
rs863224963
|
|
NM_000070.3(CAPN3):c.496del (p.Gln166fs)
|
|
|
NM_000070.3(CAPN3):c.498+1G>A
|
rs2141160881
|
|
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.509dup (p.Tyr170Ter)
|
rs1595821204
|
|
NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter)
|
rs1555420475
|
|
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)
|
rs2053442769
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000070.3(CAPN3):c.562del (p.Gln188fs)
|
rs1566975090
|
|
NM_000070.3(CAPN3):c.580del (p.Ser194fs)
|
rs398123149
|
|
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)
|
rs727503837
|
|
NM_000070.3(CAPN3):c.59del (p.Pro20fs)
|
rs1555417271
|
|
NM_000070.3(CAPN3):c.608C>G (p.Ala203Gly)
|
rs763719290
|
|
NM_000070.3(CAPN3):c.60del (p.Pro22fs)
|
rs1566965857
|
|
NM_000070.3(CAPN3):c.616del (p.Glu206fs)
|
rs2053446296
|
|
NM_000070.3(CAPN3):c.626dup (p.Tyr209Ter)
|
|
|
NM_000070.3(CAPN3):c.632+4A>G
|
rs1555420507
|
|
NM_000070.3(CAPN3):c.63del (p.Pro22fs)
|
|
|
NM_000070.3(CAPN3):c.648C>G (p.Tyr216Ter)
|
rs138846390
|
|
NM_000070.3(CAPN3):c.664G>C (p.Gly222Arg)
|
|
|
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)
|
rs1555420634
|
|
NM_000070.3(CAPN3):c.717del (p.Phe239fs)
|
rs776059672
|
|
NM_000070.3(CAPN3):c.717dup (p.Glu240Ter)
|
rs776059672
|
|
NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs)
|
rs1555420642
|
|
NM_000070.3(CAPN3):c.735_741del (p.Ser246fs)
|
|
|
NM_000070.3(CAPN3):c.741_751del (p.Met248fs)
|
rs1555420647
|
|
NM_000070.3(CAPN3):c.742_743del (p.Met248fs)
|
rs1064793620
|
|
NM_000070.3(CAPN3):c.746dup (p.Tyr249Ter)
|
|
|
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)
|
rs794727697
|
|
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)
|
rs2053484604
|
|
NM_000070.3(CAPN3):c.796del (p.Ile266fs)
|
rs2053485642
|
|
NM_000070.3(CAPN3):c.801+1G>A
|
rs1459288402
|
|
NM_000070.3(CAPN3):c.801+2T>G
|
|
|
NM_000070.3(CAPN3):c.806del (p.Gly269fs)
|
rs2053509916
|
|
NM_000070.3(CAPN3):c.817del (p.Thr273fs)
|
|
|
NM_000070.3(CAPN3):c.819del (p.Tyr274fs)
|
|
|
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)
|
rs1555420765
|
|
NM_000070.3(CAPN3):c.855_864dup (p.Arg289fs)
|
rs398123150
|
|
NM_000070.3(CAPN3):c.871del (p.Met290_Val291insTer)
|
|
|
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)
|
rs863224966
|
|
NM_000070.3(CAPN3):c.898C>T (p.Gln300Ter)
|
rs2141170517
|
|
NM_000070.3(CAPN3):c.946-1G>A
|
rs80338801
|
|
NM_000070.3(CAPN3):c.946-1_948del
|
rs766156798
|
|
NM_000070.3(CAPN3):c.946-2A>G
|
rs1595826673
|
|
NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter)
|
rs750443041
|
|
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg)
|
rs1085307995
|
|
NM_000082.3:c.844_1122del
|
|
|
NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys)
|
rs281875221
|
|
NM_000082.4(ERCC8):c.141del (p.Asn47fs)
|
rs786205176
|
|
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter)
|
rs1749618632
|
|
NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe)
|
rs1749617646
|
|
NM_000082.4(ERCC8):c.275+1G>A
|
|
|
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)
|
rs1131691783
|
|
NM_000082.4(ERCC8):c.313_314del (p.Val105fs)
|
rs1404477615
|
|
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter)
|
rs1580023012
|
|
NM_000082.4(ERCC8):c.394_398del (p.Leu132fs)
|
rs774542633
|
|
NM_000082.4(ERCC8):c.481+1G>C
|
rs1580007152
|
|
NM_000082.4(ERCC8):c.551-1G>A
|
rs1554073316
|
|
NM_000082.4(ERCC8):c.78-2A>T
|
rs748379243
|
|
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter)
|
rs121434323
|
|
NM_000082.4:c.[275+768_399+346del;399+347_399+2002inv;399+2003_399+2557delinsTACTTAAT]
|
|
|
NM_000083.2(CLCN1):c.698delG
|
rs1423567292
|
|
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)
|
rs759761559
|
|
NM_000083.3(CLCN1):c.1038_1039del (p.Glu347fs)
|
|
|
NM_000083.3(CLCN1):c.1044_1056del (p.Ala350fs)
|
|
|
NM_000083.3(CLCN1):c.1111del (p.Gln371fs)
|
|
|
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter)
|
rs1554436799
|
|
NM_000083.3(CLCN1):c.1179T>G (p.Tyr393Ter)
|
|
|
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)
|
rs756199349
|
|
NM_000083.3(CLCN1):c.1244C>T (p.Ala415Val)
|
|
|
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)
|
rs763633152
|
|
NM_000083.3(CLCN1):c.1269dup (p.Ile424fs)
|
rs2116855121
|
|
NM_000083.3(CLCN1):c.127C>T (p.Gln43Ter)
|
|
|
NM_000083.3(CLCN1):c.1280del (p.Leu427fs)
|
|
|
NM_000083.3(CLCN1):c.1281del (p.Leu427fs)
|
rs2116855161
|
|
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs)
|
rs752041565
|
|
NM_000083.3(CLCN1):c.1299G>A (p.Trp433Ter)
|
rs1802763171
|
|
NM_000083.3(CLCN1):c.1310_1311del (p.Ala437fs)
|
|
|
NM_000083.3(CLCN1):c.1347del (p.Val448_Trp449insTer)
|
|
|
NM_000083.3(CLCN1):c.1357del (p.Arg453fs)
|
rs1586499614
|
|
NM_000083.3(CLCN1):c.1357dup (p.Arg453fs)
|
rs1586499614
|
|
NM_000083.3(CLCN1):c.1401+1G>A
|
rs769861892
|
|
NM_000083.3(CLCN1):c.1407G>A (p.Trp469Ter)
|
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3(CLCN1):c.1439C>A (p.Pro480His)
|
rs80356694
|
|
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)
|
rs80356694
|
|
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu)
|
rs1380726444
|
|
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu)
|
rs1312002847
|
|
NM_000083.3(CLCN1):c.1471+1G>T
|
|
|
NM_000083.3(CLCN1):c.1472-2A>G
|
rs2116865174
|
|
NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg)
|
rs121912807
|
|
NM_000083.3(CLCN1):c.1562_1563del (p.Pro521fs)
|
|
|
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp)
|
rs1460714146
|
|
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys)
|
rs1563083476
|
|
NM_000083.3(CLCN1):c.1616_1617del (p.Thr539fs)
|
rs1554438432
|
|
NM_000083.3(CLCN1):c.1642G>T (p.Glu548Ter)
|
|
|
NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs)
|
rs1563084597
|
|
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg)
|
rs762754992
|
|
NM_000083.3(CLCN1):c.1657A>T (p.Ile553Phe)
|
|
|
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)
|
rs1269268607
|
|
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
NM_000083.3(CLCN1):c.174del (p.Thr59fs)
|
|
|
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter)
|
rs1586510870
|
|
NM_000083.3(CLCN1):c.1791_1792del (p.Gln597fs)
|
rs2116373517
|
|
NM_000083.3(CLCN1):c.1849del (p.Ser617fs)
|
|
|
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro)
|
rs1009716258
|
|
NM_000083.3(CLCN1):c.1909_1910del (p.Leu637fs)
|
rs1237554305
|
|
NM_000083.3(CLCN1):c.1910T>A (p.Leu637Ter)
|
rs2116374801
|
|
NM_000083.3(CLCN1):c.1918del (p.Val640fs)
|
rs1554438574
|
|
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter)
|
rs1803112361
|
|
NM_000083.3(CLCN1):c.1943T>C (p.Leu648Pro)
|
|
|
NM_000083.3(CLCN1):c.1966del (p.Glu656fs)
|
rs1586514992
|
|
NM_000083.3(CLCN1):c.1978del (p.Leu660fs)
|
|
|
NM_000083.3(CLCN1):c.1985del (p.Gln662fs)
|
|
|
NM_000083.3(CLCN1):c.198del (p.Glu67fs)
|
|
|
NM_000083.3(CLCN1):c.19C>T (p.Gln7Ter)
|
|
|
NM_000083.3(CLCN1):c.200_215del (p.Glu67fs)
|
rs2116834548
|
|
NM_000083.3(CLCN1):c.2017_2018del (p.Ala673fs)
|
rs1586515112
|
|
NM_000083.3(CLCN1):c.2023del (p.Gln675fs)
|
rs886042007
|
|
NM_000083.3(CLCN1):c.2045del (p.Ser682fs)
|
rs2116384132
|
|
NM_000083.3(CLCN1):c.2058C>A (p.Tyr686Ter)
|
rs1417174086
|
|
NM_000083.3(CLCN1):c.2093_2105del (p.Pro698fs)
|
|
|
NM_000083.3(CLCN1):c.209C>A (p.Ser70Ter)
|
|
|
NM_000083.3(CLCN1):c.2148dup (p.Glu717fs)
|
rs2116384782
|
|
NM_000083.3(CLCN1):c.2149del (p.Glu717fs)
|
|
|
NM_000083.3(CLCN1):c.2172+1G>A
|
rs1273524525
|
|
NM_000083.3(CLCN1):c.2172+1G>C
|
|
|
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter)
|
rs1554434400
|
|
NM_000083.3(CLCN1):c.2215_2216del (p.Leu739fs)
|
rs1803238026
|
|
NM_000083.3(CLCN1):c.2271_2272del (p.Pro758fs)
|
|
|
NM_000083.3(CLCN1):c.2285-1G>C
|
rs1222525763
|
|
NM_000083.3(CLCN1):c.2343del (p.Thr782fs)
|
|
|
NM_000083.3(CLCN1):c.2362C>T (p.Gln788Ter)
|
|
|
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter)
|
rs1131691551
|
|
NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter)
|
rs1554439817
|
|
NM_000083.3(CLCN1):c.2467C>T (p.Gln823Ter)
|
|
|
NM_000083.3(CLCN1):c.2495C>T (p.Thr832Ile)
|
rs755343536
|
|
NM_000083.3(CLCN1):c.2524del (p.Ser842fs)
|
|
|
NM_000083.3(CLCN1):c.2565del (p.Lys856fs)
|
|
|
NM_000083.3(CLCN1):c.2581del (p.Leu861fs)
|
rs2116397821
|
|
NM_000083.3(CLCN1):c.2595+1G>A
|
rs2116397860
|
|
NM_000083.3(CLCN1):c.2612del (p.Glu871fs)
|
|
|
NM_000083.3(CLCN1):c.2655dup (p.Ser886fs)
|
|
|
NM_000083.3(CLCN1):c.2675C>A (p.Ser892Ter)
|
|
|
NM_000083.3(CLCN1):c.2683_2686del (p.Lys895fs)
|
|
|
NM_000083.3(CLCN1):c.2765_2766del (p.Val922fs)
|
rs1563091175
|
|
NM_000083.3(CLCN1):c.2784_2785del (p.Glu928fs)
|
|
|
NM_000083.3(CLCN1):c.2789del (p.Pro930fs)
|
rs749552056
|
|
NM_000083.3(CLCN1):c.2821_2822del (p.Ser941fs)
|
|
|
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs)
|
rs755176513
|
|
NM_000083.3(CLCN1):c.302-1G>A
|
rs529377088
|
|
NM_000083.3(CLCN1):c.302-2A>C
|
|
|
NM_000083.3(CLCN1):c.32del (p.Gly11fs)
|
|
|
NM_000083.3(CLCN1):c.354G>A (p.Gly118=)
|
|
|
NM_000083.3(CLCN1):c.360del (p.Leu121fs)
|
rs2116836321
|
|
NM_000083.3(CLCN1):c.36del (p.Glu12fs)
|
|
|
NM_000083.3(CLCN1):c.378dup (p.Leu127fs)
|
rs1320040467
|
|
NM_000083.3(CLCN1):c.411C>A (p.Tyr137Ter)
|
|
|
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter)
|
rs1586484463
|
|
NM_000083.3(CLCN1):c.431dup (p.Ala145fs)
|
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000083.3(CLCN1):c.434-55_464del
|
|
|
NM_000083.3(CLCN1):c.443G>A (p.Trp148Ter)
|
rs2116837535
|
|
NM_000083.3(CLCN1):c.444dup (p.Ser149fs)
|
|
|
NM_000083.3(CLCN1):c.450C>A (p.Tyr150Ter)
|
|
|
NM_000083.3(CLCN1):c.469del (p.Leu157fs)
|
rs1554434794
|
|
NM_000083.3(CLCN1):c.475del (p.Leu159fs)
|
rs1802428440
|
|
NM_000083.3(CLCN1):c.478C>T (p.Gln160Ter)
|
rs1586485406
|
|
NM_000083.3(CLCN1):c.50_434-202del
|
|
|
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)
|
rs369773321
|
|
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
|
rs797045032
|
|
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro)
|
rs1347382107
|
|
NM_000083.3(CLCN1):c.598G>A (p.Gly200Arg)
|
|
|
NM_000083.3(CLCN1):c.618C>A (p.Tyr206Ter)
|
rs1563074540
|
|
NM_000083.3(CLCN1):c.61del (p.Gln21fs)
|
|
|
NM_000083.3(CLCN1):c.61dup (p.Gln21fs)
|
|
|
NM_000083.3(CLCN1):c.642del (p.Lys215fs)
|
|
|
NM_000083.3(CLCN1):c.685G>A (p.Val229Met)
|
rs761601545
|
|
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)
|
rs80356700
|
|
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)
|
rs139039122
|
|
NM_000083.3(CLCN1):c.751del (p.Ser251fs)
|
rs1586487826
|
|
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp)
|
rs772027125
|
|
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter)
|
rs1802495428
|
|
NM_000083.3(CLCN1):c.775C>T (p.Gln259Ter)
|
rs2116842799
|
|
NM_000083.3(CLCN1):c.782A>G (p.Tyr261Cys)
|
|
|
NM_000083.3(CLCN1):c.783C>G (p.Tyr261Ter)
|
|
|
NM_000083.3(CLCN1):c.860T>A (p.Leu287Gln)
|
rs1266327660
|
|
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)
|
rs80356690
|
|
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter)
|
rs1554436419
|
|
NM_000083.3(CLCN1):c.898_900delinsTGA (p.Arg300Ter)
|
rs1586496726
|
|
NM_000083.3(CLCN1):c.916T>C (p.Phe306Leu)
|
rs1802702190
|
|
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter)
|
rs1337473924
|
|
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu)
|
rs780150093
|
|
NM_000083.3(CLCN1):c.966G>A (p.Trp322Ter)
|
|
|
NM_000083.3(CLCN1):c.979+1G>A
|
rs1563078827
|
|
NM_000083.3(CLCN1):c.979+1G>T
|
rs1563078827
|
|
NM_000083.3(CLCN1):c.989dup (p.Ala331fs)
|
rs1383055795
|
|
NM_000083.3(CLCN1):c.99C>A (p.Tyr33Ter)
|
rs138922145
|
|
NM_000091.4(COL4A3):c.[3490G>T];[687G>A]
|
|
|
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)
|
rs1559873550
|
|
NM_000091.5(COL4A3):c.1097G>A (p.Gly366Glu)
|
|
|
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu)
|
rs1114167371
|
|
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)
|
rs1131691738
|
|
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)
|
rs1559878862
|
|
NM_000091.5(COL4A3):c.1504+1G>A
|
rs1559882199
|
|
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)
|
rs1574753929
|
|
NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs)
|
rs1553758893
|
|
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])
|
rs1306992119
|
|
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val)
|
rs2106151987
|
|
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)
|
rs1440033157
|
|
NM_000091.5(COL4A3):c.2439del (p.Arg814fs)
|
rs2106154439
|
|
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs)
|
rs1553760257
|
|
NM_000091.5(COL4A3):c.2746+1G>T
|
rs1574786225
|
|
NM_000091.5(COL4A3):c.2747-1G>T
|
rs1196996393
|
|
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs)
|
rs766306957
|
|
NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs)
|
rs1559904445
|
|
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)
|
rs1553762113
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
NM_000091.5(COL4A3):c.345del (p.Pro116fs)
|
rs749390823
|
|
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp)
|
rs2106235905
|
|
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter)
|
rs750308686
|
|
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg)
|
rs1167411352
|
|
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu)
|
rs1553764136
|
|
NM_000091.5(COL4A3):c.3955G>A (p.Gly1319Arg)
|
rs765661521
|
|
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del)
|
rs876657397
|
|
NM_000091.5(COL4A3):c.4114C>T (p.Gln1372Ter)
|
rs2106271012
|
|
NM_000091.5(COL4A3):c.4318del (p.Thr1440fs)
|
rs2106284079
|
|
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs)
|
rs748026887
|
|
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs)
|
rs1445615417
|
|
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)
|
rs759873621
|
|
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter)
|
rs121912825
|
|
NM_000091.5(COL4A3):c.4812C>A (p.Cys1604Ter)
|
|
|
NM_000091.5(COL4A3):c.4929-388G>T
|
rs1325453230
|
|
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)
|
rs1469479748
|
|
NM_000091.5(COL4A3):c.816dup (p.Pro273fs)
|
rs1574701767
|
|
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)
|
rs1385106410
|
|
NM_000092.4(COL4A4):c.1321_1369+3del
|
rs1553676221
|
|
NM_000092.4(COL4A4):c.[1320_1369+2del];[2320G>C]
|
|
|
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)
|
rs534522842
|
|
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)
|
rs773081522
|
|
NM_000092.5(COL4A4):c.1324G>T (p.Gly442Cys)
|
rs2060086619
|
|
NM_000092.5(COL4A4):c.139del (p.Cys47fs)
|
|
|
NM_000092.5(COL4A4):c.1580del (p.Gly527fs)
|
rs2059732983
|
|
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp)
|
rs1553669704
|
|
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs)
|
rs2150505385
|
|
NM_000092.5(COL4A4):c.1889del (p.Pro630fs)
|
rs757688183
|
|
NM_000092.5(COL4A4):c.2171del (p.Arg724fs)
|
rs1576207007
|
|
NM_000092.5(COL4A4):c.2219dup (p.Val741fs)
|
rs141127013
|
|
NM_000092.5(COL4A4):c.2312dup (p.Arg773fs)
|
rs1976337637
|
|
NM_000092.5(COL4A4):c.2377del (p.Ala793fs)
|
rs1976320157
|
|
NM_000092.5(COL4A4):c.2420del (p.Gly807fs)
|
rs786205640
|
|
NM_000092.5(COL4A4):c.2638_2639del (p.Ala880fs)
|
rs1553641611
|
|
NM_000092.5(COL4A4):c.2638del (p.Ala880fs)
|
rs778043831
|
|
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter)
|
rs372413045
|
|
NM_000092.5(COL4A4):c.3205G>C (p.Gly1069Arg)
|
rs1973758214
|
|
NM_000092.5(COL4A4):c.3214+1G>T
|
rs747167770
|
|
NM_000092.5(COL4A4):c.3601G>A (p.Gly1201Ser)
|
rs121912858
|
|
NM_000092.5(COL4A4):c.3699_3706+1del
|
|
|
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs)
|
rs754706338
|
|
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter)
|
rs121912859
|
|
NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs)
|
rs2149956832
|
|
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)
|
rs1433065763
|
|
NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter)
|
rs1963402519
|
|
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs)
|
rs1963392922
|
|
NM_000092.5(COL4A4):c.4508del (p.His1503fs)
|
rs1963379793
|
|
NM_000092.5(COL4A4):c.4523-1G>A
|
|
|
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter)
|
rs369922627
|
|
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)
|
rs1962628992
|
|
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
|
rs1962591629
|
|
NM_000092.5(COL4A4):c.4694_4713del (p.Arg1565fs)
|
rs1553612433
|
|
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter)
|
rs2149720690
|
|
NM_000092.5(COL4A4):c.4923C>A (p.Cys1641Ter)
|
rs121912862
|
|
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter)
|
rs1408907127
|
|
NM_000092.5(COL4A4):c.558+1G>A
|
rs2061393783
|
|
NM_000092.5(COL4A4):c.559-2A>C
|
rs766243664
|
|
NM_000092.5(COL4A4):c.567_568del (p.Asp191fs)
|
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000092.5(COL4A4):c.853G>A (p.Gly285Arg)
|
rs2150793962
|
|
NM_000092.5:c.1205_1369del
|
|
|
NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs)
|
rs786200919
|
|
NM_000123.4(ERCC5):c.1494del (p.Asp499fs)
|
rs786200920
|
|
NM_000123.4(ERCC5):c.1855C>T (p.Gln619Ter)
|
rs1882701423
|
|
NM_000123.4(ERCC5):c.1975del (p.Ser659fs)
|
rs1882806435
|
|
NM_000123.4(ERCC5):c.215C>A (p.Pro72His)
|
rs121434574
|
|
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter)
|
rs1244074570
|
|
NM_000123.4(ERCC5):c.2427del (p.Asp809fs)
|
rs777455688
|
|
NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro)
|
rs121434575
|
|
NM_000123.4(ERCC5):c.2751del (p.Lys917fs)
|
rs752661599
|
|
NM_000123.4(ERCC5):c.2766dup (p.Leu923fs)
|
rs760232640
|
|
NM_000123.4(ERCC5):c.2775del (p.Gly926fs)
|
rs2140538834
|
|
NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys)
|
rs267607280
|
|
NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter)
|
rs121434577
|
|
NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp)
|
rs267607281
|
|
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs)
|
rs1595382501
|
|
NM_000124.3(ERCC6):c.1684_1705del
|
|
|
NM_000124.4(ERCC6):c.1004del (p.Leu335fs)
|
rs1554793305
|
|
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)
|
rs1198241866
|
|
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs)
|
rs1590474873
|
|
NM_000124.4(ERCC6):c.1280dup (p.Ser429fs)
|
rs786205166
|
|
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)
|
rs121917902
|
|
NM_000124.4(ERCC6):c.1518del (p.Lys506fs)
|
rs786205168
|
|
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter)
|
rs121917900
|
|
NM_000124.4(ERCC6):c.1850dup (p.Cys617fs)
|
rs786205167
|
|
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)
|
rs767247987
|
|
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs)
|
rs2132552521
|
|
NM_000124.4(ERCC6):c.1999del (p.Thr667fs)
|
rs786205169
|
|
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)
|
rs751292948
|
|
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs)
|
rs1439211546
|
|
NM_000124.4(ERCC6):c.2218_2221del (p.Pro740fs)
|
|
|
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val)
|
rs1590413260
|
|
NM_000124.4(ERCC6):c.22del (p.His8fs)
|
|
|
NM_000124.4(ERCC6):c.2321_2322del (p.Lys774fs)
|
|
|
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg)
|
rs368728467
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter)
|
rs1554787509
|
|
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro)
|
rs121917905
|
|
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs)
|
rs786205170
|
|
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)
|
rs786205172
|
|
NM_000124.4(ERCC6):c.3715_3716del (p.Lys1239fs)
|
rs758341467
|
|
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter)
|
rs786205174
|
|
NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter)
|
rs1564725764
|
|
NM_000124.4(ERCC6):c.4007del (p.Asn1336fs)
|
rs786205175
|
|
NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter)
|
rs2132621608
|
|
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs)
|
rs797045562
|
|
NM_000124.4(ERCC6):c.972dup (p.Glu325fs)
|
rs387906262
|
|
NM_000124.4(ERCC6):c.[1727C>G;1834C>T]
|
|
|
NM_000138.5:c.(1468+1_1469-1)_(1837+1_1838-1)del
|
|
|
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)
|
rs121918488
|
|
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)
|
rs121918488
|
|
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)
|
rs121918491
|
|
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)
|
rs121918502
|
|
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)
|
rs121913478
|
|
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg)
|
rs1554927408
|
|
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys)
|
rs1434545235
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)
|
rs121918499
|
|
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)
|
rs121918504
|
|
NM_000144.5(FXN):c.157del (p.Arg53fs)
|
rs141935559
|
|
NM_000144.5(FXN):c.165+1338AAG[180]
|
rs193922938
|
|
NM_000144.5(FXN):c.317T>G (p.Leu106Ter)
|
rs104894105
|
|
NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr)
|
rs886037630
|
|
NM_000144.5(FXN):c.385-2A>G
|
rs140987490
|
|
NM_000144.5(FXN):c.438C>G (p.Asn146Lys)
|
rs146818694
|
|
NM_000144.5(FXN):c.460A>T (p.Ile154Phe)
|
rs104894106
|
|
NM_000162.5(GCK):c.1019+2T>G
|
rs193929376
|
|
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)
|
rs1554335570
|
|
NM_000162.5(GCK):c.544G>A (p.Val182Met)
|
rs587780345
|
|
NM_000162.5(GCK):c.608T>C (p.Val203Ala)
|
rs1562717053
|
|
NM_000162.5(GCK):c.629T>A (p.Met210Lys)
|
rs80356654
|
|
NM_000162.5(GCK):c.667G>A (p.Gly223Ser)
|
rs1360415315
|
|
NM_000162.5(GCK):c.683C>T (p.Thr228Met)
|
rs80356655
|
|
NM_000162.5(GCK):c.766G>A (p.Glu256Lys)
|
rs769268803
|
|
NM_000162.5(GCK):c.793G>A (p.Glu265Lys)
|
rs104894011
|
|
NM_000163.5(GHR):c.102G>A (p.Trp34Ter)
|
rs121909370
|
|
NM_000163.5(GHR):c.1734del (p.Arg578fs)
|
|
|
NM_000163.5(GHR):c.181C>T (p.Arg61Ter)
|
rs121909358
|
|
NM_000163.5(GHR):c.192_193del (p.Ser65fs)
|
rs1194378231
|
|
NM_000163.5(GHR):c.266+1G>A
|
rs1009412984
|
|
NM_000163.5(GHR):c.267-1155_333del
|
|
|
NM_000163.5(GHR):c.267-2A>G
|
rs1757597156
|
|
NM_000163.5(GHR):c.281G>A (p.Trp94Ter)
|
rs1060499692
|
|
NM_000163.5(GHR):c.303C>A (p.Cys101Ter)
|
rs121909371
|
|
NM_000163.5(GHR):c.335G>C (p.Cys112Ser)
|
rs121909372
|
|
NM_000163.5(GHR):c.341T>C (p.Phe114Ser)
|
rs121909357
|
|
NM_000163.5(GHR):c.364T>C (p.Trp122Arg)
|
rs190314158
|
|
NM_000163.5(GHR):c.512T>C (p.Ile171Thr)
|
rs121909367
|
|
NM_000163.5(GHR):c.515A>C (p.Gln172Pro)
|
rs121909368
|
|
NM_000163.5(GHR):c.518T>G (p.Val173Gly)
|
rs121909369
|
|
NM_000163.5(GHR):c.618+792A>G
|
rs1011727375
|
|
NM_000163.5(GHR):c.619-1G>T
|
rs730880281
|
|
NM_000163.5(GHR):c.743_744del (p.Tyr248fs)
|
|
|
NM_000163.5(GHR):c.945G>A (p.Lys315=)
|
rs1554040858
|
|
NM_000165.5(GJA1):c.113G>A (p.Gly38Glu)
|
|
|
NM_000165.5(GJA1):c.119C>T (p.Ala40Val)
|
rs1554200992
|
|
NM_000165.5(GJA1):c.140A>T (p.Asp47Val)
|
rs1554200995
|
|
NM_000165.5(GJA1):c.187A>G (p.Asn63Asp)
|
|
|
NM_000165.5(GJA1):c.306G>C (p.Lys102Asn)
|
rs1554201011
|
|
NM_000165.5(GJA1):c.32T>A (p.Leu11His)
|
|
|
NM_000165.5(GJA1):c.389T>C (p.Ile130Thr)
|
rs1554201017
|
|
NM_000165.5(GJA1):c.412G>A (p.Gly138Ser)
|
rs1554201018
|
|
NM_000165.5(GJA1):c.53C>A (p.Ser18Ter)
|
rs1773898086
|
|
NM_000165.5(GJA1):c.64G>A (p.Gly22Arg)
|
rs1773898234
|
|
NM_000165.5(GJA1):c.65G>A (p.Gly22Glu)
|
rs104893964
|
|
NM_000165.5(GJA1):c.97C>T (p.Arg33Ter)
|
rs121912970
|
|
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)
|
rs61749670
|
|
NM_000180.4(GUCY2D):c.-2_3del (p.Met1fs)
|
rs1451359371
|
|
NM_000180.4(GUCY2D):c.1008_1014del (p.Asp337fs)
|
|
|
NM_000180.4(GUCY2D):c.1089_1113del (p.Glu363fs)
|
|
|
NM_000180.4(GUCY2D):c.1116G>A (p.Trp372Ter)
|
|
|
NM_000180.4(GUCY2D):c.1116_1119dup (p.Ser374fs)
|
|
|
NM_000180.4(GUCY2D):c.1149_1155del (p.Asp384fs)
|
|
|
NM_000180.4(GUCY2D):c.1150del (p.Asp384fs)
|
|
|
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs)
|
rs1598146173
|
|
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)
|
rs61749679
|
|
NM_000180.4(GUCY2D):c.1361_1367del (p.Asn454fs)
|
rs2151800620
|
|
NM_000180.4(GUCY2D):c.1371C>A (p.Cys457Ter)
|
|
|
NM_000180.4(GUCY2D):c.1377_1378del (p.Gly460fs)
|
|
|
NM_000180.4(GUCY2D):c.1378+1G>A
|
rs1975751307
|
|
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs)
|
rs1598146589
|
|
NM_000180.4(GUCY2D):c.144dup (p.Ala49fs)
|
|
|
NM_000180.4(GUCY2D):c.1530del (p.Thr511fs)
|
rs1975768901
|
|
NM_000180.4(GUCY2D):c.1566+2T>C
|
rs61749683
|
|
NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter)
|
rs1168076308
|
|
NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter)
|
rs1349155167
|
|
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)
|
rs61749755
|
|
NM_000180.4(GUCY2D):c.16_19del (p.Arg6fs)
|
|
|
NM_000180.4(GUCY2D):c.1753C>T (p.Gln585Ter)
|
|
|
NM_000180.4(GUCY2D):c.175del (p.Leu59fs)
|
rs2151799287
|
|
NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs)
|
rs1975665345
|
|
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs)
|
rs794727952
|
|
NM_000180.4(GUCY2D):c.1780_1783del (p.Leu594fs)
|
|
|
NM_000180.4(GUCY2D):c.1784_1787del (p.Tyr595fs)
|
|
|
NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs)
|
rs63749078
|
|
NM_000180.4(GUCY2D):c.1821_1824dup (p.Ala609fs)
|
|
|
NM_000180.4(GUCY2D):c.185G>A (p.Trp62Ter)
|
|
|
NM_000180.4(GUCY2D):c.186G>A (p.Trp62Ter)
|
|
|
NM_000180.4(GUCY2D):c.1956+2T>A
|
rs61749758
|
|
NM_000180.4(GUCY2D):c.1957-1G>T
|
rs61749759
|
|
NM_000180.4(GUCY2D):c.1957-2A>G
|
rs945734402
|
|
NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln)
|
rs1598149187
|
|
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val)
|
rs1424348888
|
|
NM_000180.4(GUCY2D):c.2080C>T (p.Gln694Ter)
|
|
|
NM_000180.4(GUCY2D):c.2113+1G>A
|
|
|
NM_000180.4(GUCY2D):c.2114-27_2263+18del
|
rs1555635550
|
|
NM_000180.4(GUCY2D):c.2177_2206del (p.Ala726_Met736delinsVal)
|
rs1975890613
|
|
NM_000180.4(GUCY2D):c.2209C>T (p.Gln737Ter)
|
rs2151802829
|
|
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter)
|
rs747951577
|
|
NM_000180.4(GUCY2D):c.2263+2T>C
|
rs1975893449
|
|
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs)
|
rs281865410
|
|
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
|
|
|
NM_000180.4(GUCY2D):c.2291dup (p.Pro765fs)
|
|
|
NM_000180.4(GUCY2D):c.2323C>T (p.Gln775Ter)
|
|
|
NM_000180.4(GUCY2D):c.2377del (p.Glu793fs)
|
rs1555635668
|
|
NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs)
|
rs1975911430
|
|
NM_000180.4(GUCY2D):c.2413-1G>C
|
rs1975923246
|
|
NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter)
|
rs1338490917
|
|
NM_000180.4(GUCY2D):c.247C>T (p.Arg83Cys)
|
|
|
NM_000180.4(GUCY2D):c.2509del (p.Glu837fs)
|
|
|
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser)
|
rs61750172
|
|
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly)
|
rs61750172
|
|
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)
|
rs61750173
|
|
NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro)
|
rs61750173
|
|
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs)
|
rs756044745
|
|
NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter)
|
rs1341592819
|
|
NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn)
|
rs1598150539
|
|
NM_000180.4(GUCY2D):c.2577-2A>C
|
rs1975931968
|
|
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg)
|
rs1567961680
|
|
NM_000180.4(GUCY2D):c.2632C>T (p.Gln878Ter)
|
|
|
NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter)
|
rs1567961697
|
|
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs)
|
rs1598150748
|
|
NM_000180.4(GUCY2D):c.2678_2679del (p.Ser893fs)
|
|
|
NM_000180.4(GUCY2D):c.2730dup (p.Leu911fs)
|
|
|
NM_000180.4(GUCY2D):c.2731C>T (p.Leu911Phe)
|
|
|
NM_000180.4(GUCY2D):c.2735_2736del (p.Leu911_Phe912insTer)
|
|
|
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)
|
rs1006935198
|
|
NM_000180.4(GUCY2D):c.2770-1G>C
|
rs1975943461
|
|
NM_000180.4(GUCY2D):c.2770-2A>G
|
rs1975943416
|
|
NM_000180.4(GUCY2D):c.2871del (p.Ser958fs)
|
rs2151803659
|
|
NM_000180.4(GUCY2D):c.2899del (p.His967fs)
|
rs61750183
|
|
NM_000180.4(GUCY2D):c.2944+1del
|
rs61750185
|
|
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)
|
|
|
NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter)
|
rs1975957350
|
|
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs)
|
rs1975957618
|
|
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys)
|
rs281865408
|
|
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg)
|
rs868612148
|
|
NM_000180.4(GUCY2D):c.3038G>A (p.Gly1013Glu)
|
rs1975959442
|
|
NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter)
|
rs866511152
|
|
NM_000180.4(GUCY2D):c.3074_3075del (p.Val1025fs)
|
|
|
NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs)
|
rs281865411
|
|
NM_000180.4(GUCY2D):c.308A>T (p.Glu103Val)
|
|
|
NM_000180.4(GUCY2D):c.3105C>G (p.Tyr1035Ter)
|
rs1975964112
|
|
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter)
|
rs61750194
|
|
NM_000180.4(GUCY2D):c.3118_3125delinsAAGGTGAGGTAC (p.Arg1040fs)
|
|
|
NM_000180.4(GUCY2D):c.315C>A (p.Cys105Ter)
|
rs2151799357
|
|
NM_000180.4(GUCY2D):c.3219dup (p.Pro1074fs)
|
rs1374426388
|
|
NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs)
|
rs386834239
|
|
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile)
|
rs281865409
|
|
NM_000180.4(GUCY2D):c.442del (p.Val148fs)
|
|
|
NM_000180.4(GUCY2D):c.450G>A (p.Trp150Ter)
|
|
|
NM_000180.4(GUCY2D):c.484dup (p.Ala162fs)
|
rs2151799452
|
|
NM_000180.4(GUCY2D):c.501del (p.Ala168fs)
|
rs1975675766
|
|
NM_000180.4(GUCY2D):c.51C>A (p.Cys17Ter)
|
|
|
NM_000180.4(GUCY2D):c.562_565dup (p.Ala189fs)
|
rs1975678842
|
|
NM_000180.4(GUCY2D):c.564del (p.Ala189fs)
|
rs2151799492
|
|
NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter)
|
rs768390959
|
|
NM_000180.4(GUCY2D):c.622del (p.Arg208fs)
|
rs61749671
|
|
NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs)
|
rs2151799567
|
|
NM_000180.4(GUCY2D):c.781_782insT (p.Glu261fs)
|
|
|
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter)
|
rs143745703
|
|
NM_000180.4(GUCY2D):c.860del (p.Pro287fs)
|
|
|
NM_000180.4(GUCY2D):c.914del (p.His305fs)
|
rs1598144694
|
|
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs)
|
rs61749663
|
|
NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs)
|
rs1975693728
|
|
NM_000180.4(GUCY2D):c.941dup (p.His314fs)
|
|
|
NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter)
|
rs755999834
|
|
NM_000180.4(GUCY2D):c.[1978C>T];[2960G>C]
|
|
|
NM_000207.3(INS):c.188-31G>A
|
rs797045623
|
|
NM_000207.3(INS):c.265C>T (p.Arg89Cys)
|
rs80356669
|
|
NM_000208.4(INSR):c.1177G>A (p.Gly393Arg)
|
rs267607184
|
|
NM_000208.4(INSR):c.1316G>C (p.Trp439Ser)
|
rs121913158
|
|
NM_000208.4(INSR):c.1372A>G (p.Asn458Asp)
|
rs121913160
|
|
NM_000208.4(INSR):c.164T>C (p.Val55Ala)
|
rs121913152
|
|
NM_000208.4(INSR):c.172G>A (p.Gly58Arg)
|
rs52836744
|
|
NM_000208.4(INSR):c.2095C>T (p.Gln699Ter)
|
rs121913137
|
|
NM_000208.4(INSR):c.2770C>T (p.Arg924Ter)
|
rs387906538
|
|
NM_000208.4(INSR):c.338G>C (p.Arg113Pro)
|
rs121913153
|
|
NM_000208.4(INSR):c.438C>G (p.Ile146Met)
|
rs121913159
|
|
NM_000208.4(INSR):c.442A>T (p.Lys148Ter)
|
rs121913155
|
|
NM_000208.4(INSR):c.632C>T (p.Thr211Ile)
|
rs1967766760
|
|
NM_000208.4(INSR):c.779T>C (p.Leu260Pro)
|
rs121913141
|
|
NM_000209.4(PDX1):c.188del (p.Pro63fs)
|
rs193929377
|
|
NM_000211.4(ITGB2):c.[576dupC];[706G>A]
|
|
|
NM_000211.5(ITGB2):c.1030G>T (p.Glu344Ter)
|
rs483352816
|
|
NM_000211.5(ITGB2):c.1052A>G (p.Asn351Ser)
|
rs137852613
|
|
NM_000211.5(ITGB2):c.1057del (p.Val353fs)
|
rs2146511363
|
|
NM_000211.5(ITGB2):c.1143del (p.Tyr382fs)
|
rs483352817
|
|
NM_000211.5(ITGB2):c.1168_1180del (p.Val390fs)
|
|
|
NM_000211.5(ITGB2):c.1264C>T (p.Gln422Ter)
|
rs1568883795
|
|
NM_000211.5(ITGB2):c.1275del (p.Phe426fs)
|
|
|
NM_000211.5(ITGB2):c.1367dup (p.Ser457fs)
|
rs2146504324
|
|
NM_000211.5(ITGB2):c.1471C>T (p.Gln491Ter)
|
|
|
NM_000211.5(ITGB2):c.1491C>A (p.Cys497Ter)
|
rs774228764
|
|
NM_000211.5(ITGB2):c.1537_1538del (p.Val513fs)
|
rs1230903176
|
|
NM_000211.5(ITGB2):c.1602C>A (p.Cys534Ter)
|
rs748574145
|
|
NM_000211.5(ITGB2):c.1657+1G>T
|
rs2146499719
|
|
NM_000211.5(ITGB2):c.1759del (p.Arg587fs)
|
rs2146498117
|
|
NM_000211.5(ITGB2):c.185del (p.Cys62fs)
|
|
|
NM_000211.5(ITGB2):c.186C>A (p.Cys62Ter)
|
|
|
NM_000211.5(ITGB2):c.1877+2T>C
|
rs483352818
|
|
NM_000211.5(ITGB2):c.1907del (p.Lys636fs)
|
rs483352819
|
|
NM_000211.5(ITGB2):c.2036del (p.Gln679fs)
|
rs1227331406
|
|
NM_000211.5(ITGB2):c.2051_2055dup (p.Leu686fs)
|
rs2083735130
|
|
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter)
|
rs1464015799
|
|
NM_000211.5(ITGB2):c.239del (p.Asp80fs)
|
|
|
NM_000211.5(ITGB2):c.295del (p.Ser99fs)
|
|
|
NM_000211.5(ITGB2):c.305_306del (p.Lys102fs)
|
rs2146538658
|
|
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter)
|
rs772471533
|
|
NM_000211.5(ITGB2):c.329-36_452del
|
|
|
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr)
|
rs137852615
|
|
NM_000211.5(ITGB2):c.412T>C (p.Ser138Pro)
|
rs137852617
|
|
NM_000211.5(ITGB2):c.433_436del (p.Asn145fs)
|
|
|
NM_000211.5(ITGB2):c.446T>C (p.Leu149Pro)
|
rs137852611
|
|
NM_000211.5(ITGB2):c.505G>A (p.Gly169Arg)
|
rs137852612
|
|
NM_000211.5(ITGB2):c.576dup (p.Asn193fs)
|
rs483352813
|
|
NM_000211.5(ITGB2):c.587A>C (p.Lys196Thr)
|
rs137852610
|
|
NM_000211.5(ITGB2):c.59-10C>A
|
|
|
NM_000211.5(ITGB2):c.616C>T (p.His206Tyr)
|
|
|
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr)
|
rs179363873
|
|
NM_000211.5(ITGB2):c.742-14C>A
|
rs183204825
|
|
NM_000211.5(ITGB2):c.753del (p.Trp252fs)
|
rs1349812924
|
|
NM_000211.5(ITGB2):c.786del (p.Thr263fs)
|
rs1601302490
|
|
NM_000211.5(ITGB2):c.843del (p.Asn282fs)
|
rs483352815
|
|
NM_000211.5(ITGB2):c.851_854dup (p.Cys286fs)
|
|
|
NM_000211.5(ITGB2):c.897+1G>T
|
rs201752283
|
|
NM_000211.5(ITGB2):c.949C>T (p.Gln317Ter)
|
|
|
NM_000211.5(ITGB2):c.954del (p.Ile319fs)
|
|
|
NM_000211.5(ITGB2):c.[1756C>T;742-14C>A]
|
|
|
NM_000231.3(SGCG):c.105T>A (p.Cys35Ter)
|
rs760108586
|
|
NM_000231.3(SGCG):c.128T>A (p.Leu43Ter)
|
rs2137501447
|
|
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)
|
rs781760379
|
|
NM_000231.3(SGCG):c.167G>A (p.Trp56Ter)
|
rs1351510337
|
|
NM_000231.3(SGCG):c.174_175insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTGGATTCTT (p.Lys59delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerGlnAspGlyLeuAspLeuLeuThrSerTer)
|
rs2137501542
|
|
NM_000231.3(SGCG):c.177dup (p.Val60fs)
|
rs2137501584
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)
|
|
|
NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)
|
|
|
NM_000231.3(SGCG):c.241_297+1169del
|
|
|
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
|
|
|
NM_000231.3(SGCG):c.298-1G>A
|
rs79500874
|
|
NM_000231.3(SGCG):c.298-2A>G
|
|
|
NM_000231.3(SGCG):c.333del (p.Thr112fs)
|
rs1593197637
|
|
NM_000231.3(SGCG):c.361del (p.Glu121fs)
|
rs1879928532
|
|
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer)
|
rs886042540
|
|
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter)
|
rs1881219252
|
|
NM_000231.3(SGCG):c.505+2T>C
|
rs1593216248
|
|
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)
|
rs1881865054
|
|
NM_000231.3(SGCG):c.524_527del (p.Phe175fs)
|
rs2137644682
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.526G>T (p.Glu176Ter)
|
rs768134426
|
|
NM_000231.3(SGCG):c.528_534del (p.His177fs)
|
|
|
NM_000231.3(SGCG):c.533C>G (p.Ser178Ter)
|
rs1011397929
|
|
NM_000231.3(SGCG):c.533del (p.His177_Ser178insTer)
|
rs1180551378
|
|
NM_000231.3(SGCG):c.549dup (p.Val184fs)
|
rs2137644772
|
|
NM_000231.3(SGCG):c.579-5729_702+1720del
|
|
|
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter)
|
rs547818652
|
|
NM_000231.3(SGCG):c.582dup (p.Glu195fs)
|
|
|
NM_000231.3(SGCG):c.599del (p.Ser200fs)
|
rs886043860
|
|
NM_000231.3(SGCG):c.648_649insC (p.Lys217fs)
|
rs2137528211
|
|
NM_000231.3(SGCG):c.649A>T (p.Lys217Ter)
|
rs1325816562
|
|
NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter)
|
rs376410504
|
|
NM_000231.3(SGCG):c.673_674insTATTCTTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Asp225delinsValPhePhePhePhePhePhePhePhePheXaaXaaXaaXaaAspGlyValSerProCysTer)
|
rs2137528297
|
|
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg)
|
rs875989949
|
|
NM_000231.3(SGCG):c.699_702del (p.Met234fs)
|
rs2137528349
|
|
NM_000231.3(SGCG):c.727_728del (p.Cys243fs)
|
rs758078849
|
|
NM_000231.3(SGCG):c.730_732delinsAGCAT (p.Leu244fs)
|
rs1883154291
|
|
NM_000231.3(SGCG):c.735del (p.Lys246fs)
|
|
|
NM_000231.3(SGCG):c.768del (p.Ser257fs)
|
rs1199421806
|
|
NM_000231.3(SGCG):c.775_776del (p.Gln259fs)
|
rs2137534154
|
|
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.824_827del (p.Ser275fs)
|
rs1361450354
|
|
NM_000231.3(SGCG):c.82del (p.Ile28fs)
|
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000231.3(SGCG):c.87T>A (p.Tyr29Ter)
|
rs1196026821
|
|
NM_000231.3(SGCG):c.89del (p.Gly30fs)
|
|
|
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)
|
|
|
NM_000232.5(SGCB):c.-10_13del (p.Met1fs)
|
rs2109380910
|
|
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
|
|
|
NM_000232.5(SGCB):c.-10_19dup (p.Ala7fs)
|
|
|
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)
|
rs1553940963
|
|
NM_000232.5(SGCB):c.-12_23dup (p.Ala9fs)
|
|
|
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)
|
rs1207685911
|
|
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
|
|
|
NM_000232.5(SGCB):c.-18_8dup (p.Ala6fs)
|
rs2109380938
|
|
NM_000232.5(SGCB):c.-8_8dup (p.Ala4fs)
|
|
|
NM_000232.5(SGCB):c.102del (p.Glu35fs)
|
rs2109376007
|
|
NM_000232.5(SGCB):c.132C>G (p.Tyr44Ter)
|
rs1737305761
|
|
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
|
|
|
NM_000232.5(SGCB):c.243+2T>C
|
rs1553940661
|
|
NM_000232.5(SGCB):c.243+3_243+6del
|
rs1553940660
|
|
NM_000232.5(SGCB):c.253_254del (p.Val85fs)
|
rs1553940274
|
|
NM_000232.5(SGCB):c.255dup (p.Ile86fs)
|
rs2109372084
|
|
NM_000232.5(SGCB):c.261G>A (p.Trp87Ter)
|
rs2109372060
|
|
NM_000232.5(SGCB):c.272G>C (p.Arg91Pro)
|
rs104893869
|
|
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu)
|
rs104893869
|
|
NM_000232.5(SGCB):c.28G>T (p.Glu10Ter)
|
rs1448040082
|
|
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.2T>C (p.Met1Thr)
|
rs1737457235
|
|
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.32dup (p.Gln12fs)
|
rs796065319
|
|
NM_000232.5(SGCB):c.34-1G>A
|
rs1484409119
|
|
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer)
|
rs1578126090
|
|
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
|
|
|
NM_000232.5(SGCB):c.373dup (p.Ser125fs)
|
rs2109371877
|
|
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer)
|
rs751427729
|
|
NM_000232.5(SGCB):c.37del (p.Ser13fs)
|
|
|
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)
|
rs1013015106
|
|
NM_000232.5(SGCB):c.3G>T (p.Met1Ile)
|
rs2109380946
|
|
NM_000232.5(SGCB):c.433del (p.Val145fs)
|
|
|
NM_000232.5(SGCB):c.460_482del (p.Ser154fs)
|
|
|
NM_000232.5(SGCB):c.466_467del (p.Glu156fs)
|
rs1578125670
|
|
NM_000232.5(SGCB):c.494del (p.Asp165fs)
|
|
|
NM_000232.5(SGCB):c.539dup (p.Ser181fs)
|
rs1737176330
|
|
NM_000232.5(SGCB):c.543_547del (p.Ser181fs)
|
|
|
NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)
|
|
|
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.558_568del (p.His187fs)
|
|
|
NM_000232.5(SGCB):c.567dup (p.His190fs)
|
rs1263020044
|
|
NM_000232.5(SGCB):c.572del (p.Leu191fs)
|
rs886042546
|
|
NM_000232.5(SGCB):c.579dup (p.Gly194fs)
|
rs2109370922
|
|
NM_000232.5(SGCB):c.583dup (p.Val195fs)
|
|
|
NM_000232.5(SGCB):c.595_598del (p.Asn199fs)
|
rs762114570
|
|
NM_000232.5(SGCB):c.621+1G>A
|
rs1264362642
|
|
NM_000232.5(SGCB):c.622-1G>C
|
rs2109370093
|
|
NM_000232.5(SGCB):c.622-1G>T
|
|
|
NM_000232.5(SGCB):c.650del (p.Asn217fs)
|
rs1553940079
|
|
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)
|
rs775458201
|
|
NM_000232.5(SGCB):c.661_662insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGTTG (p.Val220_Asp221insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaLysLysLysLysLysLysLysLysVal)
|
|
|
NM_000232.5(SGCB):c.708_709insTTTTCATTATGGGC (p.Lys237fs)
|
|
|
NM_000232.5(SGCB):c.735_736del (p.Asn246fs)
|
rs2109369924
|
|
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.85dup (p.Arg29fs)
|
rs2109376054
|
|
NM_000232.5(SGCB):c.87_89del (p.Arg30del)
|
rs780654411
|
|
NM_000232.5:c.74_283del
|
|
|
NM_000243.2(MEFV):c.[1437C>G;501G>C]
|
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2040G>T (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)
|
rs104895091
|
|
NM_000243.3(MEFV):c.214C>T (p.Gln72Ter)
|
rs1959115414
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys)
|
rs150819742
|
|
NM_000243.3(MEFV):c.265del (p.Ala89fs)
|
rs1959114278
|
|
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)
|
rs104895127
|
|
NM_000243.3(MEFV):c.[2080A>G];[2177T>C]
|
|
|
NM_000245.4(MET):c.2521T>G (p.Phe841Val)
|
rs794728016
|
|
NM_000254.3(MTR):c.1200dup (p.Val401fs)
|
|
|
NM_000254.3(MTR):c.12_13del (p.Leu5fs)
|
|
|
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
|
|
|
NM_000254.3(MTR):c.1475dup (p.Ala493fs)
|
|
|
NM_000254.3(MTR):c.1512del (p.Gln505fs)
|
|
|
NM_000254.3(MTR):c.154C>T (p.Arg52Ter)
|
|
|
NM_000254.3(MTR):c.1636G>T (p.Gly546Ter)
|
|
|
NM_000254.3(MTR):c.1812_1812+1insATAC
|
|
|
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs)
|
rs1572278166
|
|
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs)
|
rs1664521219
|
|
NM_000254.3(MTR):c.2064dup (p.Glu689Ter)
|
|
|
NM_000254.3(MTR):c.2087T>G (p.Leu696Ter)
|
|
|
NM_000254.3(MTR):c.2100dup (p.Tyr701fs)
|
|
|
NM_000254.3(MTR):c.2114_2115del (p.Leu705fs)
|
rs797044444
|
|
NM_000254.3(MTR):c.2139del (p.Met713fs)
|
|
|
NM_000254.3(MTR):c.2239_2240insA (p.Leu747fs)
|
|
|
NM_000254.3(MTR):c.2262_2265del (p.Arg755fs)
|
|
|
NM_000254.3(MTR):c.2405+1G>A
|
rs1664669480
|
|
NM_000254.3(MTR):c.2472dup (p.Asp825fs)
|
|
|
NM_000254.3(MTR):c.2473+3A>G
|
rs1665277406
|
|
NM_000254.3(MTR):c.2476del (p.Asp825_Ile826insTer)
|
rs1572309822
|
|
NM_000254.3(MTR):c.2640_2642del (p.Ile881del)
|
rs797044443
|
|
NM_000254.3(MTR):c.2669_2670del (p.Val890fs)
|
rs794727395
|
|
NM_000254.3(MTR):c.2730_2731delinsCT (p.Met910_Glu911delinsIleTer)
|
|
|
NM_000254.3(MTR):c.2731dup (p.Glu911fs)
|
|
|
NM_000254.3(MTR):c.2752C>T (p.Gln918Ter)
|
|
|
NM_000254.3(MTR):c.2758C>G (p.His920Asp)
|
rs121913579
|
|
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs)
|
rs1666006480
|
|
NM_000254.3(MTR):c.2799_2803del (p.Ala935fs)
|
|
|
NM_000254.3(MTR):c.313C>T (p.Gln105Ter)
|
|
|
NM_000254.3(MTR):c.3247_3248del (p.Ser1083fs)
|
|
|
NM_000254.3(MTR):c.3380dup (p.Ala1128fs)
|
rs797044445
|
|
NM_000254.3(MTR):c.3570G>A (p.Trp1190Ter)
|
|
|
NM_000254.3(MTR):c.3570_3572del (p.Trp1190_Arg1191delinsTer)
|
|
|
NM_000254.3(MTR):c.3571A>T (p.Arg1191Ter)
|
|
|
NM_000254.3(MTR):c.3600del (p.Ile1201fs)
|
rs1346847201
|
|
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter)
|
rs121913581
|
|
NM_000254.3(MTR):c.381del (p.Ala128fs)
|
|
|
NM_000254.3(MTR):c.573dup (p.Leu192fs)
|
|
|
NM_000254.3(MTR):c.609+1088G>A
|
rs752526782
|
|
NM_000254.3(MTR):c.610-1G>T
|
rs1661544157
|
|
NM_000254.3(MTR):c.610-1_613dup
|
|
|
NM_000254.3(MTR):c.617del (p.Leu206fs)
|
|
|
NM_000254.3(MTR):c.648_652del (p.Lys216fs)
|
|
|
NM_000254.3(MTR):c.810_811insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAATGAGACCTTTT (p.Ile271delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_000254.3(MTR):c.899dup (p.Pro301fs)
|
|
|
NM_000254.3(MTR):c.920dup (p.His307fs)
|
|
|
NM_000260.3(MYO7A):c.[1969C>T];[29T>C]
|
|
|
NM_000260.4(MYO7A):c.1003+1G>A
|
rs1952694662
|
|
NM_000260.4(MYO7A):c.1091dup (p.Asp365fs)
|
rs1952854443
|
|
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)
|
rs868979094
|
|
NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs)
|
rs1591286671
|
|
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His)
|
rs387906700
|
|
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs)
|
rs1591287317
|
|
NM_000260.4(MYO7A):c.1344-2A>G
|
rs111033415
|
|
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile)
|
rs121965084
|
|
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs)
|
rs1057519225
|
|
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs)
|
rs782077721
|
|
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys)
|
rs2135312491
|
|
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile)
|
rs121965082
|
|
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT
|
rs1954226902
|
|
NM_000260.4(MYO7A):c.183del (p.Thr62fs)
|
rs1446588093
|
|
NM_000260.4(MYO7A):c.1845del (p.Lys615fs)
|
rs886037762
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg)
|
rs1954240719
|
|
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)
|
rs121965083
|
|
NM_000260.4(MYO7A):c.19-2A>G
|
rs1555051384
|
|
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)
|
rs878853236
|
|
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)
|
rs878853378
|
|
NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro)
|
rs782396605
|
|
NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser)
|
rs387906699
|
|
NM_000260.4(MYO7A):c.2187+1G>T
|
rs111033290
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.2307del (p.Asn769fs)
|
rs1060499800
|
|
NM_000260.4(MYO7A):c.2339del (p.Gly780fs)
|
rs1565402473
|
|
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys)
|
rs2135473615
|
|
NM_000260.4(MYO7A):c.2662_2670del (p.Lys888_Lys890del)
|
rs2135478294
|
|
NM_000260.4(MYO7A):c.2750del (p.Glu917fs)
|
rs1591378140
|
|
NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs)
|
|
|
NM_000260.4(MYO7A):c.285+2T>C
|
rs782292032
|
|
NM_000260.4(MYO7A):c.285+2T>G
|
rs782292032
|
|
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)
|
rs782281371
|
|
NM_000260.4(MYO7A):c.2991_2992del (p.Glu998fs)
|
|
|
NM_000260.4(MYO7A):c.3275del (p.Gly1092fs)
|
|
|
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)
|
rs1253943370
|
|
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs)
|
rs1555090368
|
|
NM_000260.4(MYO7A):c.3596dup (p.Cys1201fs)
|
rs2135550200
|
|
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg)
|
rs111033195
|
|
NM_000260.4(MYO7A):c.3696_3706del (p.Arg1232fs)
|
rs397516303
|
|
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.3764del (p.Lys1255fs)
|
rs111033347
|
|
NM_000260.4(MYO7A):c.3878_3879del (p.Leu1293fs)
|
rs760251968
|
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
|
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.4017dup (p.Ala1340fs)
|
|
|
NM_000260.4(MYO7A):c.4153-2A>G
|
rs1060499803
|
|
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs)
|
rs1555095933
|
|
NM_000260.4(MYO7A):c.4207G>T (p.Glu1403Ter)
|
rs916332384
|
|
NM_000260.4(MYO7A):c.4297C>T (p.Gln1433Ter)
|
rs2135620605
|
|
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs)
|
rs1555096223
|
|
NM_000260.4(MYO7A):c.4439C>A (p.Ser1480Ter)
|
rs1565455391
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)
|
rs121965079
|
|
NM_000260.4(MYO7A):c.44_51dup (p.Gln18fs)
|
|
|
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter)
|
rs1952434877
|
|
NM_000260.4(MYO7A):c.4852+1G>A
|
rs1956938352
|
|
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.4996_4997del (p.Ser1666fs)
|
rs1591467894
|
|
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs)
|
rs1591470904
|
|
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter)
|
rs530520654
|
|
NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del)
|
rs1555102843
|
|
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter)
|
rs111033477
|
|
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)
|
rs1555051455
|
|
NM_000260.4(MYO7A):c.541C>T (p.Gln181Ter)
|
|
|
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter)
|
rs778009227
|
|
NM_000260.4(MYO7A):c.5510T>A (p.Leu1837His)
|
rs1385324903
|
|
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer)
|
rs1299898646
|
|
NM_000260.4(MYO7A):c.565_566del (p.Val189fs)
|
rs1060499651
|
|
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter)
|
rs780609120
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000260.4(MYO7A):c.5856+5G>C
|
rs1386887007
|
|
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del)
|
rs111033232
|
|
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs)
|
rs1397834886
|
|
NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter)
|
|
|
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)
|
rs397516326
|
|
NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter)
|
rs1957844295
|
|
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)
|
rs1060499801
|
|
NM_000260.4(MYO7A):c.620A>G (p.Asn207Ser)
|
rs878853235
|
|
NM_000260.4(MYO7A):c.6229dup (p.Trp2077fs)
|
rs2135785880
|
|
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs)
|
rs730880367
|
|
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)
|
rs773945008
|
|
NM_000260.4(MYO7A):c.6377del (p.Pro2126fs)
|
rs2135798786
|
|
NM_000260.4(MYO7A):c.6439-1G>A
|
rs1591514873
|
|
NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del)
|
rs1555062984
|
|
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)
|
rs797044512
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro)
|
rs121965081
|
|
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)
|
rs782252317
|
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081
|
|
NM_000271.4(NPC1):c.2134_2135del
|
|
|
NM_000271.4(NPC1):c.3249_3250del
|
|
|
NM_000271.5(NPC1):c.1020_1021del (p.Arg341fs)
|
rs1555637255
|
|
NM_000271.5(NPC1):c.1026G>A (p.Trp342Ter)
|
|
|
NM_000271.5(NPC1):c.1028G>A (p.Gly343Glu)
|
rs1444308532
|
|
NM_000271.5(NPC1):c.1029del (p.Ser344fs)
|
|
|
NM_000271.5(NPC1):c.1030del (p.Ser344fs)
|
rs483352883
|
|
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs)
|
rs1057516950
|
|
NM_000271.5(NPC1):c.1034del (p.Phe345fs)
|
rs1057516950
|
|
NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter)
|
rs1474434210
|
|
NM_000271.5(NPC1):c.1084_1093del (p.Thr362fs)
|
|
|
NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter)
|
rs1278305591
|
|
NM_000271.5(NPC1):c.1102dup (p.Leu368fs)
|
|
|
NM_000271.5(NPC1):c.1110_1113del (p.Val371fs)
|
|
|
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs)
|
rs1555637164
|
|
NM_000271.5(NPC1):c.1140_1141del (p.Trp381fs)
|
rs1567965488
|
|
NM_000271.5(NPC1):c.1152dup (p.Ser385fs)
|
rs2145456711
|
|
NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter)
|
rs1555637139
|
|
NM_000271.5(NPC1):c.1176dup (p.Glu393fs)
|
|
|
NM_000271.5(NPC1):c.1180_1181dup (p.Phe395fs)
|
|
|
NM_000271.5(NPC1):c.1182C>G (p.Tyr394Ter)
|
|
|
NM_000271.5(NPC1):c.1201C>A (p.Pro401Thr)
|
|
|
NM_000271.5(NPC1):c.1205_1208del (p.Phe402fs)
|
|
|
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)
|
rs1298238512
|
|
NM_000271.5(NPC1):c.1238dup (p.Leu414fs)
|
|
|
NM_000271.5(NPC1):c.1250_1253del (p.Lys417fs)
|
rs2058949697
|
|
NM_000271.5(NPC1):c.1253_1260dup (p.Gln421fs)
|
|
|
NM_000271.5(NPC1):c.1261C>T (p.Gln421Ter)
|
rs2058949363
|
|
NM_000271.5(NPC1):c.1290del (p.Phe431fs)
|
|
|
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter)
|
rs750292546
|
|
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter)
|
rs1057517077
|
|
NM_000271.5(NPC1):c.1361del (p.Thr454fs)
|
|
|
NM_000271.5(NPC1):c.1368_1369del (p.Ser456_Tyr457insTer)
|
rs2058928573
|
|
NM_000271.5(NPC1):c.1369dup (p.Tyr457fs)
|
|
|
NM_000271.5(NPC1):c.1417dup (p.Ser473fs)
|
rs2145447827
|
|
NM_000271.5(NPC1):c.1418C>G (p.Ser473Ter)
|
|
|
NM_000271.5(NPC1):c.1435_1438dup (p.Thr480fs)
|
rs2145447627
|
|
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter)
|
rs1555642296
|
|
NM_000271.5(NPC1):c.1451del (p.Val484fs)
|
|
|
NM_000271.5(NPC1):c.1497dup (p.Gly500fs)
|
rs2058926540
|
|
NM_000271.5(NPC1):c.1501G>T (p.Asp501Tyr)
|
|
|
NM_000271.5(NPC1):c.1502A>T (p.Asp501Val)
|
rs483352885
|
|
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser)
|
rs1190383931
|
|
NM_000271.5(NPC1):c.1531_1532del (p.Thr511fs)
|
rs2145446953
|
|
NM_000271.5(NPC1):c.1535A>G (p.His512Arg)
|
rs1567963883
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
NM_000271.5(NPC1):c.1554-1009G>A
|
rs1055204017
|
|
NM_000271.5(NPC1):c.1612_1619dup (p.Phe542fs)
|
|
|
NM_000271.5(NPC1):c.1618_1619insGTAC (p.Pro540fs)
|
|
|
NM_000271.5(NPC1):c.1628del (p.Pro543fs)
|
rs1555635957
|
|
NM_000271.5(NPC1):c.1631G>A (p.Trp544Ter)
|
|
|
NM_000271.5(NPC1):c.1654+1G>A
|
rs2145433024
|
|
NM_000271.5(NPC1):c.1654+1dup
|
|
|
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)
|
rs201156397
|
|
NM_000271.5(NPC1):c.1711del (p.Tyr571fs)
|
rs1057517455
|
|
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
|
|
|
NM_000271.5(NPC1):c.1747_1755delinsAT (p.Trp583fs)
|
|
|
NM_000271.5(NPC1):c.1757+1G>T
|
|
|
NM_000271.5(NPC1):c.1757+2T>G
|
|
|
NM_000271.5(NPC1):c.1757+2_1757+3del
|
|
|
NM_000271.5(NPC1):c.1757_1757+1del
|
|
|
NM_000271.5(NPC1):c.1764dup (p.Asn589Ter)
|
|
|
NM_000271.5(NPC1):c.1770del (p.Phe590fs)
|
|
|
NM_000271.5(NPC1):c.178C>T (p.Gln60Ter)
|
|
|
NM_000271.5(NPC1):c.1800del (p.Ile601fs)
|
rs483352879
|
|
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)
|
rs377130051
|
|
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter)
|
rs2059213874
|
|
NM_000271.5(NPC1):c.1832A>G (p.Asp611Gly)
|
rs483352887
|
|
NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp)
|
rs1555634739
|
|
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
|
rs745777805
|
|
NM_000271.5(NPC1):c.1844del (p.Arg615fs)
|
rs1257362365
|
|
NM_000271.5(NPC1):c.1849dup (p.Ser617fs)
|
rs2058769608
|
|
NM_000271.5(NPC1):c.1901A>T (p.Tyr634Phe)
|
rs202140203
|
|
NM_000271.5(NPC1):c.1903_1906dup (p.Ser636fs)
|
rs2058768417
|
|
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
|
rs2058768195
|
|
NM_000271.5(NPC1):c.1920del (p.His641fs)
|
rs886042270
|
|
NM_000271.5(NPC1):c.2000C>T (p.Ser667Leu)
|
rs2058756032
|
|
NM_000271.5(NPC1):c.2039dup (p.Leu680fs)
|
rs2145400078
|
|
NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr)
|
rs483352888
|
|
NM_000271.5(NPC1):c.2071C>G (p.Pro691Ala)
|
rs2058754429
|
|
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu)
|
rs1555634422
|
|
NM_000271.5(NPC1):c.2077del (p.Leu693fs)
|
|
|
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
|
|
|
NM_000271.5(NPC1):c.2096_2097dup (p.Asp700fs)
|
|
|
NM_000271.5(NPC1):c.2096del (p.Val699fs)
|
rs1598954455
|
|
NM_000271.5(NPC1):c.2128C>T (p.Gln710Ter)
|
rs483352889
|
|
NM_000271.5(NPC1):c.2129del (p.Gln710fs)
|
rs2058753352
|
|
NM_000271.5(NPC1):c.2130+1G>A
|
rs2058753286
|
|
NM_000271.5(NPC1):c.2130+1G>C
|
|
|
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_000271.5(NPC1):c.2158_2162del (p.Leu720fs)
|
|
|
NM_000271.5(NPC1):c.2170del (p.Leu724fs)
|
|
|
NM_000271.5(NPC1):c.2171T>C (p.Leu724Pro)
|
|
|
NM_000271.5(NPC1):c.2175dup (p.Arg726fs)
|
|
|
NM_000271.5(NPC1):c.2177G>C (p.Arg726Thr)
|
rs483352890
|
|
NM_000271.5(NPC1):c.2179del (p.Val727fs)
|
rs2145394955
|
|
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter)
|
rs777286835
|
|
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs)
|
rs483352882
|
|
NM_000271.5(NPC1):c.2245+1G>A
|
|
|
NM_000271.5(NPC1):c.2279_2281del (p.Phe760del)
|
|
|
NM_000271.5(NPC1):c.2286_2287del (p.Phe763fs)
|
rs1057518613
|
|
NM_000271.5(NPC1):c.2286_2289del (p.Phe763fs)
|
|
|
NM_000271.5(NPC1):c.2291C>A (p.Ala764Glu)
|
|
|
NM_000271.5(NPC1):c.2291C>T (p.Ala764Val)
|
rs773765255
|
|
NM_000271.5(NPC1):c.2297T>A (p.Leu766Ter)
|
rs2058711607
|
|
NM_000271.5(NPC1):c.2302dup (p.Val768fs)
|
rs483352881
|
|
NM_000271.5(NPC1):c.2323C>T (p.Gln775Ter)
|
|
|
NM_000271.5(NPC1):c.2336del (p.Phe779fs)
|
|
|
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys)
|
rs1555633697
|
|
NM_000271.5(NPC1):c.2366G>A (p.Arg789His)
|
rs483352891
|
|
NM_000271.5(NPC1):c.2374-1G>A
|
rs2145381556
|
|
NM_000271.5(NPC1):c.239_258del (p.Leu80fs)
|
|
|
NM_000271.5(NPC1):c.2431C>T (p.Gln811Ter)
|
|
|
NM_000271.5(NPC1):c.2464_2465insT (p.Lys822fs)
|
|
|
NM_000271.5(NPC1):c.2485del (p.Leu829fs)
|
|
|
NM_000271.5(NPC1):c.248_249del (p.Leu83fs)
|
rs2145544570
|
|
NM_000271.5(NPC1):c.24dup (p.Gly9fs)
|
rs2145603843
|
|
NM_000271.5(NPC1):c.2515-2A>G
|
|
|
NM_000271.5(NPC1):c.2526T>A (p.Phe842Leu)
|
|
|
NM_000271.5(NPC1):c.2531del (p.Gly844fs)
|
|
|
NM_000271.5(NPC1):c.2531dup (p.Val845fs)
|
rs2145378067
|
|
NM_000271.5(NPC1):c.2536_2537del (p.Leu846fs)
|
|
|
NM_000271.5(NPC1):c.2591_2594del (p.Leu864fs)
|
|
|
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu)
|
rs1160114136
|
|
NM_000271.5(NPC1):c.2604+2T>G
|
|
|
NM_000271.5(NPC1):c.2604+5G>A
|
rs2058697907
|
|
NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr)
|
rs2058690179
|
|
NM_000271.5(NPC1):c.2612del (p.Tyr871fs)
|
|
|
NM_000271.5(NPC1):c.2641C>T (p.Gln881Ter)
|
|
|
NM_000271.5(NPC1):c.2647del (p.Leu883fs)
|
|
|
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu)
|
rs1169032037
|
|
NM_000271.5(NPC1):c.2662C>T (p.Pro888Ser)
|
|
|
NM_000271.5(NPC1):c.2664dup (p.Val889fs)
|
rs2058688995
|
|
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)
|
rs780592540
|
|
NM_000271.5(NPC1):c.2683G>T (p.Glu895Ter)
|
rs2145373524
|
|
NM_000271.5(NPC1):c.2683dup (p.Glu895fs)
|
rs1555633326
|
|
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter)
|
rs917070773
|
|
NM_000271.5(NPC1):c.2719del (p.Met907fs)
|
|
|
NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)
|
|
|
NM_000271.5(NPC1):c.2740T>A (p.Cys914Ser)
|
|
|
NM_000271.5(NPC1):c.274C>T (p.Gln92Ter)
|
|
|
NM_000271.5(NPC1):c.275A>G (p.Gln92Arg)
|
|
|
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)
|
rs786204512
|
|
NM_000271.5(NPC1):c.2775del (p.Asn925fs)
|
rs1057516603
|
|
NM_000271.5(NPC1):c.2780C>G (p.Ala927Gly)
|
|
|
NM_000271.5(NPC1):c.2782C>T (p.Gln928Ter)
|
|
|
NM_000271.5(NPC1):c.2783A>C (p.Gln928Pro)
|
rs28940897
|
|
NM_000271.5(NPC1):c.2795dup (p.Tyr932Ter)
|
rs483352884
|
|
NM_000271.5(NPC1):c.2823del (p.Trp942fs)
|
rs2145370732
|
|
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)
|
rs1261939149
|
|
NM_000271.5(NPC1):c.2847G>A (p.Trp949Ter)
|
rs2145370569
|
|
NM_000271.5(NPC1):c.2857_2858del (p.Gln953fs)
|
rs2145370503
|
|
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)
|
rs759826138
|
|
NM_000271.5(NPC1):c.2878dup (p.Asp960fs)
|
|
|
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter)
|
rs786204586
|
|
NM_000271.5(NPC1):c.2908dup (p.Ser970fs)
|
|
|
NM_000271.5(NPC1):c.2912-3C>G
|
rs483352892
|
|
NM_000271.5(NPC1):c.2928C>A (p.Cys976Ter)
|
rs370766410
|
|
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs)
|
rs2145366898
|
|
NM_000271.5(NPC1):c.2960_2963del (p.Lys987fs)
|
rs2145366821
|
|
NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs)
|
rs1555632977
|
|
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.2977_2978dup (p.Asp994fs)
|
|
|
NM_000271.5(NPC1):c.2978dup (p.Asp994fs)
|
rs775915490
|
|
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val)
|
rs2058666849
|
|
NM_000271.5(NPC1):c.3003del (p.Met1001fs)
|
|
|
NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu)
|
rs764789542
|
|
NM_000271.5(NPC1):c.3025_3026insTAAC (p.Pro1009fs)
|
rs1352485089
|
|
NM_000271.5(NPC1):c.3027del (p.Lys1010fs)
|
rs1598942578
|
|
NM_000271.5(NPC1):c.3032_3038delinsAGGTTTACTC (p.Cys1011_Lys1013delinsTer)
|
|
|
NM_000271.5(NPC1):c.3041+1G>T
|
|
|
NM_000271.5(NPC1):c.3044G>T (p.Gly1015Val)
|
rs761773567
|
|
NM_000271.5(NPC1):c.3068T>G (p.Val1023Gly)
|
rs2145357984
|
|
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter)
|
rs751249367
|
|
NM_000271.5(NPC1):c.3081_3082dup (p.Gly1028fs)
|
|
|
NM_000271.5(NPC1):c.3083_3084del (p.Gly1028fs)
|
rs1274484561
|
|
NM_000271.5(NPC1):c.3086dup (p.His1029fs)
|
|
|
NM_000271.5(NPC1):c.3096_3116delinsCAGGTCG (p.Arg1032fs)
|
|
|
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg)
|
rs2058637844
|
|
NM_000271.5(NPC1):c.3106A>G (p.Thr1036Ala)
|
|
|
NM_000271.5(NPC1):c.3108_3111del (p.Tyr1037fs)
|
rs2145357685
|
|
NM_000271.5(NPC1):c.3122dup (p.Tyr1041Ter)
|
rs2145357627
|
|
NM_000271.5(NPC1):c.3127A>G (p.Thr1043Ala)
|
rs876661319
|
|
NM_000271.5(NPC1):c.3135dup (p.Gln1046fs)
|
|
|
NM_000271.5(NPC1):c.3152_3153del (p.Phe1051fs)
|
rs2145357371
|
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
|
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)
|
rs750095738
|
|
NM_000271.5(NPC1):c.3234_3237dup (p.Pro1080fs)
|
rs863224902
|
|
NM_000271.5(NPC1):c.3245+1G>T
|
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
NM_000271.5(NPC1):c.3254_3255del (p.Tyr1085fs)
|
rs2145351971
|
|
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter)
|
rs774602107
|
|
NM_000271.5(NPC1):c.3263A>G (p.Tyr1088Cys)
|
rs28942106
|
|
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys)
|
rs374526072
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
|
NM_000271.5(NPC1):c.3281del (p.Ile1094fs)
|
|
|
NM_000271.5(NPC1):c.3294dup (p.Ile1099fs)
|
rs2145351616
|
|
NM_000271.5(NPC1):c.3299_3300dup (p.Asn1101fs)
|
rs2145351545
|
|
NM_000271.5(NPC1):c.3320dup (p.Ala1108fs)
|
rs2145351287
|
|
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs)
|
rs2145351244
|
|
NM_000271.5(NPC1):c.3325del (p.Ile1109fs)
|
rs1057517149
|
|
NM_000271.5(NPC1):c.3347del (p.Leu1116fs)
|
|
|
NM_000271.5(NPC1):c.3349dup (p.Leu1117fs)
|
rs2145350930
|
|
NM_000271.5(NPC1):c.3379_3380del (p.Met1127fs)
|
rs2058616798
|
|
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg)
|
rs120074136
|
|
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs)
|
rs768299417
|
|
NM_000271.5(NPC1):c.3412_3413del (p.Met1138fs)
|
|
|
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)
|
rs778878523
|
|
NM_000271.5(NPC1):c.3426G>A (p.Met1142Ile)
|
|
|
NM_000271.5(NPC1):c.3457_3458dup (p.Leu1154fs)
|
rs1263493813
|
|
NM_000271.5(NPC1):c.3460_3471del (p.Leu1154_Leu1157del)
|
rs2058614971
|
|
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile)
|
rs28942105
|
|
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter)
|
rs144973225
|
|
NM_000271.5(NPC1):c.3477+1G>A
|
rs1405889589
|
|
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
|
|
|
NM_000271.5(NPC1):c.349C>T (p.Gln117Ter)
|
rs2145527075
|
|
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)
|
rs1555632003
|
|
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)
|
rs1555631998
|
|
NM_000271.5(NPC1):c.350dup (p.Ser118fs)
|
rs2145527060
|
|
NM_000271.5(NPC1):c.3517dup (p.Arg1173fs)
|
rs1555631982
|
|
NM_000271.5(NPC1):c.352_353del (p.Gln119fs)
|
rs759075595
|
|
NM_000271.5(NPC1):c.3540del (p.Gly1181fs)
|
|
|
NM_000271.5(NPC1):c.3559del (p.Ala1187fs)
|
|
|
NM_000271.5(NPC1):c.3562G>T (p.Glu1188Ter)
|
rs776701050
|
|
NM_000271.5(NPC1):c.3562del (p.Glu1188fs)
|
rs758231839
|
|
NM_000271.5(NPC1):c.3591+2T>A
|
rs1555631888
|
|
NM_000271.5(NPC1):c.3591+2T>C
|
rs1555631888
|
|
NM_000271.5(NPC1):c.3591+2T>G
|
|
|
NM_000271.5(NPC1):c.3591+2dup
|
rs2145342749
|
|
NM_000271.5(NPC1):c.3597del (p.Phe1199fs)
|
rs2058574038
|
|
NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs)
|
rs786200879
|
|
NM_000271.5(NPC1):c.3612dup (p.Thr1205fs)
|
rs2145336359
|
|
NM_000271.5(NPC1):c.3613dup (p.Thr1205fs)
|
rs886041356
|
|
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg)
|
rs758902805
|
|
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
|
|
|
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
|
|
|
NM_000271.5(NPC1):c.3645del (p.Phe1215fs)
|
|
|
NM_000271.5(NPC1):c.3658dup (p.Ile1220fs)
|
|
|
NM_000271.5(NPC1):c.3662del (p.Phe1221fs)
|
rs786200878
|
|
NM_000271.5(NPC1):c.3670T>C (p.Phe1224Leu)
|
|
|
NM_000271.5(NPC1):c.3678del (p.Phe1226fs)
|
rs2058572084
|
|
NM_000271.5(NPC1):c.3689del (p.Leu1230fs)
|
|
|
NM_000271.5(NPC1):c.370dup (p.Thr124fs)
|
|
|
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)
|
rs1064794009
|
|
NM_000271.5(NPC1):c.3740dup (p.Leu1247fs)
|
|
|
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)
|
rs774943545
|
|
NM_000271.5(NPC1):c.395del (p.Pro132fs)
|
rs1057516462
|
|
NM_000271.5(NPC1):c.407del (p.Gln136fs)
|
|
|
NM_000271.5(NPC1):c.415del (p.Thr139fs)
|
|
|
NM_000271.5(NPC1):c.416dup (p.Asn140fs)
|
rs483352880
|
|
NM_000271.5(NPC1):c.428_429del (p.Glu143fs)
|
|
|
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.464-2A>C
|
rs2145485704
|
|
NM_000271.5(NPC1):c.473del (p.Asn158fs)
|
|
|
NM_000271.5(NPC1):c.506A>T (p.Asn169Ile)
|
rs2059038310
|
|
NM_000271.5(NPC1):c.644del (p.His215fs)
|
rs2145481013
|
|
NM_000271.5(NPC1):c.652del (p.Glu218fs)
|
|
|
NM_000271.5(NPC1):c.65C>G (p.Ser22Ter)
|
|
|
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del)
|
rs758687942
|
|
NM_000271.5(NPC1):c.692_693del (p.Val231fs)
|
|
|
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter)
|
rs1064795718
|
|
NM_000271.5(NPC1):c.741_742del (p.Cys247fs)
|
|
|
NM_000271.5(NPC1):c.749_755del (p.Lys250fs)
|
|
|
NM_000271.5(NPC1):c.750_763dup (p.Pro255fs)
|
|
|
NM_000271.5(NPC1):c.754del (p.Gln252fs)
|
|
|
NM_000271.5(NPC1):c.762del (p.Pro255fs)
|
|
|
NM_000271.5(NPC1):c.80G>A (p.Trp27Ter)
|
|
|
NM_000271.5(NPC1):c.81G>A (p.Trp27Ter)
|
rs2059233403
|
|
NM_000271.5(NPC1):c.839del (p.Leu280fs)
|
rs1057518711
|
|
NM_000271.5(NPC1):c.846_847del (p.Phe284fs)
|
|
|
NM_000271.5(NPC1):c.852del (p.Phe284fs)
|
rs762124334
|
|
NM_000271.5(NPC1):c.852dup (p.Gly285fs)
|
rs762124334
|
|
NM_000271.5(NPC1):c.85G>T (p.Gly29Ter)
|
rs2145552346
|
|
NM_000271.5(NPC1):c.864del (p.Phe288fs)
|
|
|
NM_000271.5(NPC1):c.881+1G>T
|
rs1555638409
|
|
NM_000271.5(NPC1):c.895del (p.Val299fs)
|
|
|
NM_000271.5(NPC1):c.924_927del (p.Asn308fs)
|
|
|
NM_000271.5(NPC1):c.94_97dup (p.Ile33fs)
|
rs2145552247
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del
|
|
|
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
|
|
|
NM_000272.5:c.(?_-1)_(*1_?)del
|
|
|
NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs)
|
|
|
NM_000277.1(PAH):c.[353-507G>T;754C>T]
|
|
|
NM_000277.2(PAH):c.169_171delGAG
|
rs199475665
|
|
NM_000277.3(PAH):c.(?_169)_352+?del
|
|
|
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)
|
|
|
NM_000277.3(PAH):c.1006C>T (p.Gln336Ter)
|
rs62516061
|
|
NM_000277.3(PAH):c.1011_1024dup (p.Ala342delinsGluThrProTer)
|
|
|
NM_000277.3(PAH):c.1013A>T (p.Asp338Val)
|
|
|
NM_000277.3(PAH):c.1021A>T (p.Lys341Ter)
|
rs62517200
|
|
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr)
|
rs62507282
|
|
NM_000277.3(PAH):c.1024G>C (p.Ala342Pro)
|
rs62507282
|
|
NM_000277.3(PAH):c.1024del (p.Ala342fs)
|
rs63581460
|
|
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys)
|
rs62507265
|
|
NM_000277.3(PAH):c.1029T>A (p.Tyr343Ter)
|
rs1874735553
|
|
NM_000277.3(PAH):c.1029T>G (p.Tyr343Ter)
|
rs1874735553
|
|
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.1037G>A (p.Gly346Glu)
|
rs1555203737
|
|
NM_000277.3(PAH):c.1038del (p.Leu347fs)
|
rs62516063
|
|
NM_000277.3(PAH):c.1043_1053del (p.Leu348fs)
|
rs199475600
|
|
NM_000277.3(PAH):c.1045T>G (p.Ser349Ala)
|
rs62508646
|
|
NM_000277.3(PAH):c.1046C>T (p.Ser349Leu)
|
rs62507279
|
|
NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr)
|
rs62508628
|
|
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)
|
rs62508686
|
|
NM_000277.3(PAH):c.1055del (p.Gly352fs)
|
rs62516094
|
|
NM_000277.3(PAH):c.1056del (p.Glu353fs)
|
rs62507350
|
|
NM_000277.3(PAH):c.1063C>T (p.Gln355Ter)
|
rs199475633
|
|
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.1066-14C>G
|
rs62507334
|
|
NM_000277.3(PAH):c.1066-1G>A
|
rs62508684
|
|
NM_000277.3(PAH):c.1066-1G>C
|
rs62508684
|
|
NM_000277.3(PAH):c.1066-1G>T
|
rs62508684
|
|
NM_000277.3(PAH):c.1066-2A>T
|
rs281865447
|
|
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)
|
rs62516095
|
|
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg)
|
rs62508595
|
|
NM_000277.3(PAH):c.1071C>A (p.Cys357Ter)
|
rs766107583
|
|
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)
|
rs376480977
|
|
NM_000277.3(PAH):c.1076C>G (p.Ser359Ter)
|
rs5030854
|
|
NM_000277.3(PAH):c.1078G>T (p.Glu360Ter)
|
rs2136635903
|
|
NM_000277.3(PAH):c.1084C>A (p.Pro362Thr)
|
rs62507329
|
|
NM_000277.3(PAH):c.1085C>T (p.Pro362Leu)
|
|
|
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.1097C>A (p.Pro366His)
|
rs62516098
|
|
NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs)
|
rs1592947538
|
|
NM_000277.3(PAH):c.1099del (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1099dup (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys)
|
rs1488232864
|
|
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)
|
rs1592947508
|
|
NM_000277.3(PAH):c.1111_1117del (p.Lys371fs)
|
|
|
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)
|
rs62517163
|
|
NM_000277.3(PAH):c.1115_1116dup (p.Ala373fs)
|
|
|
NM_000277.3(PAH):c.1117_1118del (p.Ala373fs)
|
rs62516099
|
|
NM_000277.3(PAH):c.111dup (p.Ile38fs)
|
rs199475674
|
|
NM_000277.3(PAH):c.1127del (p.Asn376fs)
|
rs62642921
|
|
NM_000277.3(PAH):c.1129del (p.Tyr377fs)
|
rs62642941
|
|
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.1147C>T (p.Gln383Ter)
|
rs1037293795
|
|
NM_000277.3(PAH):c.1149del (p.Gln383fs)
|
rs1874691210
|
|
NM_000277.3(PAH):c.1153del (p.Leu385fs)
|
rs1565842203
|
|
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)
|
rs62517194
|
|
NM_000277.3(PAH):c.1161C>A (p.Tyr387Ter)
|
rs149595475
|
|
NM_000277.3(PAH):c.1161C>G (p.Tyr387Ter)
|
rs149595475
|
|
NM_000277.3(PAH):c.1162G>C (p.Val388Leu)
|
rs62516101
|
|
NM_000277.3(PAH):c.1163_1164del (p.Val388fs)
|
rs199475629
|
|
NM_000277.3(PAH):c.1166del (p.Ala389fs)
|
rs62506949
|
|
NM_000277.3(PAH):c.1171_1172del (p.Ser391fs)
|
rs1429055740
|
|
NM_000277.3(PAH):c.1172G>T (p.Ser391Ile)
|
|
|
NM_000277.3(PAH):c.1176dup (p.Asn393Ter)
|
|
|
NM_000277.3(PAH):c.1180G>C (p.Asp394His)
|
rs62516142
|
|
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala)
|
rs62516102
|
|
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)
|
rs776178623
|
|
NM_000277.3(PAH):c.1189G>T (p.Glu397Ter)
|
|
|
NM_000277.3(PAH):c.1192A>T (p.Lys398Ter)
|
rs2136635468
|
|
NM_000277.3(PAH):c.1194A>G (p.Lys398=)
|
rs199475638
|
|
NM_000277.3(PAH):c.1197A>T (p.Val399=)
|
rs199475584
|
|
NM_000277.3(PAH):c.1198A>C (p.Arg400=)
|
rs199475593
|
|
NM_000277.3(PAH):c.1198del (p.Arg400fs)
|
rs199475590
|
|
NM_000277.3(PAH):c.1199+1G>A
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+1G>T
|
|
|
NM_000277.3(PAH):c.1199+20G>C
|
rs62509018
|
|
NM_000277.3(PAH):c.1199+502A>T
|
rs2136634974
|
|
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr)
|
rs199475658
|
|
NM_000277.3(PAH):c.1200-1G>C
|
rs62507322
|
|
NM_000277.3(PAH):c.1200-2A>C
|
rs1592945607
|
|
NM_000277.3(PAH):c.1200-2A>G
|
rs1592945607
|
|
NM_000277.3(PAH):c.1200-8G>A
|
rs62507261
|
|
NM_000277.3(PAH):c.1215_1219del (p.Ile406fs)
|
rs1874547168
|
|
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser)
|
rs62644465
|
|
NM_000277.3(PAH):c.121C>T (p.Leu41Phe)
|
rs62642928
|
|
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu)
|
rs62644473
|
|
NM_000277.3(PAH):c.1232C>G (p.Ser411Ter)
|
|
|
NM_000277.3(PAH):c.1237C>A (p.Arg413Ser)
|
rs62644467
|
|
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)
|
rs79931499
|
|
NM_000277.3(PAH):c.1238_1241delinsCCTG (p.Arg413_Tyr414delinsProCys)
|
|
|
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)
|
rs281865437
|
|
NM_000277.3(PAH):c.1242C>A (p.Tyr414Ter)
|
|
|
NM_000277.3(PAH):c.1243G>T (p.Asp415Tyr)
|
rs62644499
|
|
NM_000277.3(PAH):c.1244A>T (p.Asp415Val)
|
rs2136632085
|
|
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)
|
rs1445893088
|
|
NM_000277.3(PAH):c.1250A>G (p.Tyr417Cys)
|
rs1371700813
|
|
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro)
|
rs62644501
|
|
NM_000277.3(PAH):c.1253C>A (p.Thr418Asn)
|
|
|
NM_000277.3(PAH):c.1258A>G (p.Arg420Gly)
|
|
|
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)
|
rs199475696
|
|
NM_000277.3(PAH):c.1271T>A (p.Leu424Ter)
|
rs199475670
|
|
NM_000277.3(PAH):c.127G>T (p.Glu43Ter)
|
rs1555209575
|
|
NM_000277.3(PAH):c.127del (p.Glu43fs)
|
rs2136728245
|
|
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)
|
rs567261857
|
|
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)
|
rs764974157
|
|
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)
|
rs199475659
|
|
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)
|
rs1592945394
|
|
NM_000277.3(PAH):c.1314_1315+4del
|
rs1334974448
|
|
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>A
|
rs1592944816
|
|
NM_000277.3(PAH):c.1316-2A>C
|
rs760830761
|
|
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)
|
rs1192400891
|
|
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)
|
rs794727086
|
|
NM_000277.3(PAH):c.137del (p.Gly46fs)
|
rs199475591
|
|
NM_000277.3(PAH):c.13del (p.Val5fs)
|
rs1592991243
|
|
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)
|
rs199475630
|
|
NM_000277.3(PAH):c.155del (p.Leu52fs)
|
rs281865165
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
NM_000277.3(PAH):c.168+2T>A
|
rs1025860114
|
|
NM_000277.3(PAH):c.168+2T>C
|
rs1025860114
|
|
NM_000277.3(PAH):c.168+5G>A
|
rs62507288
|
|
NM_000277.3(PAH):c.168G>T (p.Glu56Asp)
|
rs199475567
|
|
NM_000277.3(PAH):c.168_168+1delinsAA
|
rs786204457
|
|
NM_000277.3(PAH):c.169-1G>A
|
rs1877439517
|
|
NM_000277.3(PAH):c.169-4949_352+1467delinsGGCACCTG
|
|
|
NM_000277.3(PAH):c.169G>T (p.Glu57Ter)
|
rs140945592
|
|
NM_000277.3(PAH):c.171_172del (p.Glu57_Asn58insTer)
|
rs1592979013
|
|
NM_000277.3(PAH):c.181A>G (p.Asn61Asp)
|
rs199475651
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
NM_000277.3(PAH):c.184_185insCTGA (p.Leu62fs)
|
rs1592978986
|
|
NM_000277.3(PAH):c.184del (p.Asn61_Leu62insTer)
|
rs1592978992
|
|
NM_000277.3(PAH):c.187_190delinsCCCA (p.Thr63_His64delinsProAsn)
|
rs1877437047
|
|
NM_000277.3(PAH):c.189_190dup (p.His64fs)
|
rs672601294
|
|
NM_000277.3(PAH):c.190_194del (p.Thr63_His64insTer)
|
rs1592978950
|
|
NM_000277.3(PAH):c.190del (p.His64fs)
|
rs672601294
|
|
NM_000277.3(PAH):c.196G>T (p.Glu66Ter)
|
rs281865454
|
|
NM_000277.3(PAH):c.197_204del (p.Glu66fs)
|
rs2136702049
|
|
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)
|
rs5030842
|
|
NM_000277.3(PAH):c.199T>G (p.Ser67Ala)
|
rs5030842
|
|
NM_000277.3(PAH):c.1A>T (p.Met1Leu)
|
rs62514891
|
|
NM_000277.3(PAH):c.202A>G (p.Arg68Gly)
|
rs199475639
|
|
NM_000277.3(PAH):c.206dup (p.Ser70fs)
|
rs1592978901
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
NM_000277.3(PAH):c.210del (p.Arg71fs)
|
rs2136701994
|
|
NM_000277.3(PAH):c.223G>C (p.Asp75His)
|
rs767453024
|
|
NM_000277.3(PAH):c.226G>T (p.Glu76Ter)
|
rs762949770
|
|
NM_000277.3(PAH):c.227A>C (p.Glu76Ala)
|
rs62507347
|
|
NM_000277.3(PAH):c.227A>G (p.Glu76Gly)
|
rs62507347
|
|
NM_000277.3(PAH):c.231T>G (p.Tyr77Ter)
|
rs62507332
|
|
NM_000277.3(PAH):c.239dup (p.Thr81fs)
|
rs1592978816
|
|
NM_000277.3(PAH):c.23del (p.Asn8fs)
|
|
|
NM_000277.3(PAH):c.241_256del (p.Thr81fs)
|
rs63749677
|
|
NM_000277.3(PAH):c.253A>T (p.Lys85Ter)
|
rs1877430029
|
|
NM_000277.3(PAH):c.265C>T (p.Pro89Ser)
|
rs62507270
|
|
NM_000277.3(PAH):c.266_267insG (p.Ala90fs)
|
rs1592978760
|
|
NM_000277.3(PAH):c.266dup (p.Ala90fs)
|
rs62506950
|
|
NM_000277.3(PAH):c.277_280del (p.Asn93fs)
|
|
|
NM_000277.3(PAH):c.280_283del (p.Ile94fs)
|
|
|
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
|
rs62508727
|
|
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)
|
rs62517167
|
|
NM_000277.3(PAH):c.2T>G (p.Met1Arg)
|
rs62508575
|
|
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.308G>A (p.Gly103Asp)
|
rs2136701578
|
|
NM_000277.3(PAH):c.30dup (p.Arg13fs)
|
rs1592991220
|
|
NM_000277.3(PAH):c.324_328del (p.Glu108fs)
|
rs1877424058
|
|
NM_000277.3(PAH):c.329del (p.Ser110fs)
|
rs1057516389
|
|
NM_000277.3(PAH):c.32T>A (p.Leu11Ter)
|
rs1346707834
|
|
NM_000277.3(PAH):c.338_341del (p.Lys113fs)
|
|
|
NM_000277.3(PAH):c.344_347del (p.Lys115fs)
|
rs199475648
|
|
NM_000277.3(PAH):c.346_347del (p.Asp116fs)
|
rs1592978629
|
|
NM_000277.3(PAH):c.350del (p.Thr117fs)
|
rs281865428
|
|
NM_000277.3(PAH):c.352+1G>A
|
rs199475684
|
|
NM_000277.3(PAH):c.353-1G>A
|
rs1876628530
|
|
NM_000277.3(PAH):c.353-2A>G
|
rs1876628624
|
|
NM_000277.3(PAH):c.353-2A>T
|
|
|
NM_000277.3(PAH):c.353-6T>A
|
rs62517195
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.357del (p.Trp120fs)
|
rs794727619
|
|
NM_000277.3(PAH):c.359G>A (p.Trp120Ter)
|
rs199475586
|
|
NM_000277.3(PAH):c.361T>C (p.Phe121Leu)
|
|
|
NM_000277.3(PAH):c.364C>T (p.Pro122Ser)
|
rs1466564208
|
|
NM_000277.3(PAH):c.365C>A (p.Pro122Gln)
|
rs199475622
|
|
NM_000277.3(PAH):c.365del (p.Pro122fs)
|
rs1876626818
|
|
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)
|
rs199475606
|
|
NM_000277.3(PAH):c.398_401del (p.Asn133fs)
|
rs199475605
|
|
NM_000277.3(PAH):c.3G>A (p.Met1Ile)
|
rs62514893
|
|
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.428A>G (p.Asp143Gly)
|
rs199475572
|
|
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)
|
rs199475624
|
|
NM_000277.3(PAH):c.43_44insAG (p.Leu15fs)
|
rs1592991196
|
|
NM_000277.3(PAH):c.440C>T (p.Pro147Leu)
|
rs199475694
|
|
NM_000277.3(PAH):c.441+1G>C
|
rs62517166
|
|
NM_000277.3(PAH):c.441+2T>A
|
rs1876618843
|
|
NM_000277.3(PAH):c.441+2T>G
|
rs1876618843
|
|
NM_000277.3(PAH):c.441+3G>C
|
rs62508642
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.442-1377_509+226del
|
|
|
NM_000277.3(PAH):c.442-1G>A
|
rs62514907
|
|
NM_000277.3(PAH):c.442-1G>C
|
rs62514907
|
|
NM_000277.3(PAH):c.442-2A>C
|
rs281865448
|
|
NM_000277.3(PAH):c.442-2A>G
|
|
|
NM_000277.3(PAH):c.442-4403_509+883del
|
|
|
NM_000277.3(PAH):c.443_509+1del
|
rs199475649
|
|
NM_000277.3(PAH):c.450dup (p.Asp151fs)
|
|
|
NM_000277.3(PAH):c.456_463dup (p.Arg155fs)
|
rs2136663420
|
|
NM_000277.3(PAH):c.460T>C (p.Tyr154His)
|
rs199475587
|
|
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.463del (p.Arg155fs)
|
rs1875984331
|
|
NM_000277.3(PAH):c.464G>C (p.Arg155Pro)
|
rs199475663
|
|
NM_000277.3(PAH):c.466G>C (p.Ala156Pro)
|
rs199475686
|
|
NM_000277.3(PAH):c.470_471delinsAC (p.Arg157Asn)
|
rs1565853495
|
|
NM_000277.3(PAH):c.472C>G (p.Arg158Gly)
|
|
|
NM_000277.3(PAH):c.473G>C (p.Arg158Pro)
|
rs5030843
|
|
NM_000277.3(PAH):c.478C>T (p.Gln160Ter)
|
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.47_48dup (p.Asp17fs)
|
|
|
NM_000277.3(PAH):c.47_48insCT (p.Asp17fs)
|
rs1592991184
|
|
NM_000277.3(PAH):c.482T>C (p.Phe161Ser)
|
rs79635844
|
|
NM_000277.3(PAH):c.48dup (p.Asp17Ter)
|
rs1592991176
|
|
NM_000277.3(PAH):c.491T>C (p.Ile164Thr)
|
rs199475595
|
|
NM_000277.3(PAH):c.493G>C (p.Ala165Pro)
|
rs199475626
|
|
NM_000277.3(PAH):c.493_496del (p.Ala165fs)
|
|
|
NM_000277.3(PAH):c.498C>A (p.Tyr166Ter)
|
rs199475645
|
|
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)
|
rs199475645
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
NM_000277.3(PAH):c.503del (p.Tyr168fs)
|
rs199475661
|
|
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter)
|
rs281865455
|
|
NM_000277.3(PAH):c.505C>A (p.Arg169Ser)
|
rs281865440
|
|
NM_000277.3(PAH):c.505C>G (p.Arg169Gly)
|
rs281865440
|
|
NM_000277.3(PAH):c.506G>T (p.Arg169Leu)
|
|
|
NM_000277.3(PAH):c.509+1G>A
|
rs63102461
|
|
NM_000277.3(PAH):c.509A>C (p.His170Pro)
|
rs199475573
|
|
NM_000277.3(PAH):c.510-19_667del
|
|
|
NM_000277.3(PAH):c.510-1G>A
|
rs1875377960
|
|
NM_000277.3(PAH):c.510-1G>C
|
|
|
NM_000277.3(PAH):c.510-21_687delinsCCA
|
rs2136649216
|
|
NM_000277.3(PAH):c.510-2A>G
|
rs1555204750
|
|
NM_000277.3(PAH):c.510-735_912+434del
|
|
|
NM_000277.3(PAH):c.510T>A (p.His170Gln)
|
rs199475652
|
|
NM_000277.3(PAH):c.510T>G (p.His170Gln)
|
rs199475652
|
|
NM_000277.3(PAH):c.511G>C (p.Gly171Arg)
|
rs199475613
|
|
NM_000277.3(PAH):c.514C>T (p.Gln172Ter)
|
rs199475588
|
|
NM_000277.3(PAH):c.521T>A (p.Ile174Asn)
|
|
|
NM_000277.3(PAH):c.521T>C (p.Ile174Thr)
|
rs138809906
|
|
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)
|
rs74486803
|
|
NM_000277.3(PAH):c.527G>C (p.Arg176Pro)
|
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.544G>A (p.Glu182Lys)
|
rs2136649777
|
|
NM_000277.3(PAH):c.547G>T (p.Glu183Ter)
|
rs199475664
|
|
NM_000277.3(PAH):c.551del (p.Lys184fs)
|
rs1875371722
|
|
NM_000277.3(PAH):c.553_706+646delinsTACTTACCTAT
|
|
|
NM_000277.3(PAH):c.553_706+647del
|
|
|
NM_000277.3(PAH):c.556A>G (p.Thr186Ala)
|
|
|
NM_000277.3(PAH):c.556del (p.Thr186fs)
|
rs62507328
|
|
NM_000277.3(PAH):c.557C>T (p.Thr186Ile)
|
rs1875371404
|
|
NM_000277.3(PAH):c.561G>C (p.Trp187Cys)
|
rs62507336
|
|
NM_000277.3(PAH):c.563G>A (p.Gly188Asp)
|
rs199475689
|
|
NM_000277.3(PAH):c.563del (p.Gly188fs)
|
rs62507260
|
|
NM_000277.3(PAH):c.574_580del (p.Phe191_Lys192insTer)
|
rs2136649605
|
|
NM_000277.3(PAH):c.578C>T (p.Thr193Ile)
|
|
|
NM_000277.3(PAH):c.580_581del (p.Leu194fs)
|
rs62508587
|
|
NM_000277.3(PAH):c.584dup (p.Ser196fs)
|
rs1875368328
|
|
NM_000277.3(PAH):c.586_608del (p.Ser196fs)
|
rs62895363
|
|
NM_000277.3(PAH):c.58C>T (p.Gln20Ter)
|
rs199475585
|
|
NM_000277.3(PAH):c.590T>A (p.Leu197Ter)
|
rs886042078
|
|
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.593_614del (p.Tyr198fs)
|
rs63749676
|
|
NM_000277.3(PAH):c.594T>G (p.Tyr198Ter)
|
|
|
NM_000277.3(PAH):c.598dup (p.Thr200fs)
|
rs62508643
|
|
NM_000277.3(PAH):c.60+2del
|
|
|
NM_000277.3(PAH):c.60+5G>C
|
rs62514895
|
|
NM_000277.3(PAH):c.601C>T (p.His201Tyr)
|
rs62517205
|
|
NM_000277.3(PAH):c.603T>G (p.His201Gln)
|
rs751977644
|
|
NM_000277.3(PAH):c.607dup (p.Cys203fs)
|
rs1875366372
|
|
NM_000277.3(PAH):c.610dup (p.Tyr204fs)
|
rs1555204711
|
|
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)
|
rs62514928
|
|
NM_000277.3(PAH):c.615G>C (p.Glu205Asp)
|
rs765552494
|
|
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)
|
rs62517201
|
|
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter)
|
rs62517201
|
|
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.632del (p.Pro211fs)
|
rs62514929
|
|
NM_000277.3(PAH):c.632dup (p.Leu212fs)
|
|
|
NM_000277.3(PAH):c.635T>C (p.Leu212Pro)
|
rs62517198
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
|
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)
|
rs62509013
|
|
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr)
|
rs62508617
|
|
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.667_674dup (p.Gln226fs)
|
rs2136649263
|
|
NM_000277.3(PAH):c.669del (p.Asn223fs)
|
|
|
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)
|
rs62507323
|
|
NM_000277.3(PAH):c.676C>A (p.Gln226Lys)
|
rs62508696
|
|
NM_000277.3(PAH):c.678G>C (p.Gln226His)
|
rs62508615
|
|
NM_000277.3(PAH):c.682G>A (p.Glu228Lys)
|
rs281865444
|
|
NM_000277.3(PAH):c.682G>T (p.Glu228Ter)
|
rs281865444
|
|
NM_000277.3(PAH):c.686dup (p.Asp229fs)
|
rs1565848110
|
|
NM_000277.3(PAH):c.690_691insG (p.Ser231fs)
|
rs1875354018
|
|
NM_000277.3(PAH):c.691T>C (p.Ser231Pro)
|
rs5030845
|
|
NM_000277.3(PAH):c.692C>T (p.Ser231Phe)
|
rs62508577
|
|
NM_000277.3(PAH):c.697T>A (p.Phe233Ile)
|
rs1565848061
|
|
NM_000277.3(PAH):c.699C>A (p.Phe233Leu)
|
rs62517208
|
|
NM_000277.3(PAH):c.699C>G (p.Phe233Leu)
|
rs62517208
|
|
NM_000277.3(PAH):c.703C>T (p.Gln235Ter)
|
rs1237792711
|
|
NM_000277.3(PAH):c.707-12_711del
|
rs1555204492
|
|
NM_000277.3(PAH):c.707-1G>A
|
rs62507269
|
|
NM_000277.3(PAH):c.707-1G>C
|
rs62507269
|
|
NM_000277.3(PAH):c.707-2A>G
|
rs62514938
|
|
NM_000277.3(PAH):c.707-2A>T
|
|
|
NM_000277.3(PAH):c.707-2del
|
rs1592953143
|
|
NM_000277.3(PAH):c.713C>T (p.Thr238Ile)
|
|
|
NM_000277.3(PAH):c.716G>A (p.Gly239Asp)
|
rs62507283
|
|
NM_000277.3(PAH):c.718T>G (p.Phe240Val)
|
rs62507337
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000277.3(PAH):c.722G>T (p.Arg241Leu)
|
rs62508730
|
|
NM_000277.3(PAH):c.722_735delinsCCTCCGACCTGTA (p.Arg241fs)
|
rs2136646367
|
|
NM_000277.3(PAH):c.722del (p.Arg241fs)
|
rs199475657
|
|
NM_000277.3(PAH):c.724C>T (p.Leu242Phe)
|
rs199475578
|
|
NM_000277.3(PAH):c.731C>T (p.Pro244Leu)
|
rs118203923
|
|
NM_000277.3(PAH):c.733G>A (p.Val245Met)
|
rs62508694
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
NM_000277.3(PAH):c.733_735delinsCTA (p.Val245Leu)
|
|
|
NM_000277.3(PAH):c.734T>A (p.Val245Glu)
|
rs76212747
|
|
NM_000277.3(PAH):c.737C>A (p.Ala246Asp)
|
rs199475610
|
|
NM_000277.3(PAH):c.739G>C (p.Gly247Arg)
|
rs62508731
|
|
NM_000277.3(PAH):c.740G>T (p.Gly247Val)
|
rs199475579
|
|
NM_000277.3(PAH):c.740del (p.Gly247fs)
|
rs2136646337
|
|
NM_000277.3(PAH):c.745del (p.Leu249fs)
|
rs1057516914
|
|
NM_000277.3(PAH):c.753_754del (p.Arg252fs)
|
rs2136646297
|
|
NM_000277.3(PAH):c.753del (p.Arg252fs)
|
rs2136646301
|
|
NM_000277.3(PAH):c.754C>G (p.Arg252Gly)
|
rs5030847
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000277.3(PAH):c.755G>C (p.Arg252Pro)
|
rs62644503
|
|
NM_000277.3(PAH):c.75del (p.Ile25fs)
|
|
|
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.775G>A (p.Ala259Thr)
|
rs62642932
|
|
NM_000277.3(PAH):c.782G>C (p.Arg261Pro)
|
rs5030849
|
|
NM_000277.3(PAH):c.782G>T (p.Arg261Leu)
|
rs5030849
|
|
NM_000277.3(PAH):c.788T>C (p.Phe263Ser)
|
rs1565846863
|
|
NM_000277.3(PAH):c.78del (p.Asp27fs)
|
|
|
NM_000277.3(PAH):c.792del (p.Cys265fs)
|
|
|
NM_000277.3(PAH):c.795C>A (p.Cys265Ter)
|
rs1231529155
|
|
NM_000277.3(PAH):c.799C>G (p.Gln267Glu)
|
rs199475676
|
|
NM_000277.3(PAH):c.799C>T (p.Gln267Ter)
|
rs199475676
|
|
NM_000277.3(PAH):c.800A>G (p.Gln267Arg)
|
rs778154939
|
|
NM_000277.3(PAH):c.800A>T (p.Gln267Leu)
|
rs778154939
|
|
NM_000277.3(PAH):c.801del (p.Gln267fs)
|
rs1875230062
|
|
NM_000277.3(PAH):c.803A>G (p.Tyr268Cys)
|
rs1565846805
|
|
NM_000277.3(PAH):c.804C>A (p.Tyr268Ter)
|
rs748337823
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000277.3(PAH):c.809_820del (p.Arg270_Ser273del)
|
|
|
NM_000277.3(PAH):c.810A>T (p.Arg270Ser)
|
rs62514951
|
|
NM_000277.3(PAH):c.810_814del (p.His271fs)
|
rs62507286
|
|
NM_000277.3(PAH):c.811C>A (p.His271Asn)
|
|
|
NM_000277.3(PAH):c.822_832del (p.Lys274fs)
|
rs199475581
|
|
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.833C>A (p.Thr278Asn)
|
rs62507262
|
|
NM_000277.3(PAH):c.833C>T (p.Thr278Ile)
|
rs62507262
|
|
NM_000277.3(PAH):c.835C>A (p.Pro279Thr)
|
|
|
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)
|
rs796064503
|
|
NM_000277.3(PAH):c.837del (p.Glu280fs)
|
rs281865429
|
|
NM_000277.3(PAH):c.837dup (p.Glu280fs)
|
|
|
NM_000277.3(PAH):c.839A>C (p.Glu280Ala)
|
|
|
NM_000277.3(PAH):c.839A>G (p.Glu280Gly)
|
rs62508734
|
|
NM_000277.3(PAH):c.839_840insT (p.Glu280fs)
|
rs199475653
|
|
NM_000277.3(PAH):c.842+1G>T
|
rs5030852
|
|
NM_000277.3(PAH):c.842+2T>A
|
rs62514955
|
|
NM_000277.3(PAH):c.842+4A>G
|
rs1555204434
|
|
NM_000277.3(PAH):c.842C>A (p.Pro281His)
|
rs5030851
|
|
NM_000277.3(PAH):c.842C>G (p.Pro281Arg)
|
rs5030851
|
|
NM_000277.3(PAH):c.843-1G>A
|
rs1373264140
|
|
NM_000277.3(PAH):c.843-2A>T
|
rs62509019
|
|
NM_000277.3(PAH):c.843-5T>C
|
rs1875163630
|
|
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.856G>A (p.Glu286Lys)
|
rs62508739
|
|
NM_000277.3(PAH):c.865G>C (p.Gly289Arg)
|
rs199475693
|
|
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>A (p.His290Gln)
|
|
|
NM_000277.3(PAH):c.873_880del (p.Pro292fs)
|
|
|
NM_000277.3(PAH):c.884C>G (p.Ser295Ter)
|
rs62642910
|
|
NM_000277.3(PAH):c.887A>G (p.Asp296Gly)
|
rs281865446
|
|
NM_000277.3(PAH):c.899C>T (p.Ala300Val)
|
rs199475609
|
|
NM_000277.3(PAH):c.901C>T (p.Gln301Ter)
|
rs1057520732
|
|
NM_000277.3(PAH):c.901del (p.Gln301fs)
|
|
|
NM_000277.3(PAH):c.902A>C (p.Gln301Pro)
|
rs1592952183
|
|
NM_000277.3(PAH):c.907del (p.Ser303fs)
|
rs62642920
|
|
NM_000277.3(PAH):c.910C>T (p.Gln304Ter)
|
rs1555204295
|
|
NM_000277.3(PAH):c.912+1G>C
|
rs62514956
|
|
NM_000277.3(PAH):c.912+1G>T
|
rs62514956
|
|
NM_000277.3(PAH):c.912+2T>C
|
rs281865449
|
|
NM_000277.3(PAH):c.912G>A (p.Gln304=)
|
rs199475583
|
|
NM_000277.3(PAH):c.913-2A>C
|
rs1555203951
|
|
NM_000277.3(PAH):c.913-2A>G
|
rs1555203951
|
|
NM_000277.3(PAH):c.916del (p.Ile306fs)
|
rs281865456
|
|
NM_000277.3(PAH):c.920G>A (p.Gly307Asp)
|
rs2136639683
|
|
NM_000277.3(PAH):c.920del (p.Gly307fs)
|
rs2136639687
|
|
NM_000277.3(PAH):c.926C>A (p.Ala309Asp)
|
rs62642935
|
|
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)
|
rs62642913
|
|
NM_000277.3(PAH):c.930_940del (p.Ser310_Leu311insTer)
|
rs62651568
|
|
NM_000277.3(PAH):c.931_932del (p.Leu311fs)
|
rs281865430
|
|
NM_000277.3(PAH):c.935G>T (p.Gly312Val)
|
rs62642915
|
|
NM_000277.3(PAH):c.935del (p.Gly312fs)
|
rs2136639639
|
|
NM_000277.3(PAH):c.938C>T (p.Ala313Val)
|
rs62642914
|
|
NM_000277.3(PAH):c.940C>T (p.Pro314Ser)
|
rs199475650
|
|
NM_000277.3(PAH):c.941del (p.Pro314fs)
|
rs62642907
|
|
NM_000277.3(PAH):c.957_958insTT (p.Lys320fs)
|
|
|
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)
|
rs199475615
|
|
NM_000277.3(PAH):c.969+1G>A
|
rs62508584
|
|
NM_000277.3(PAH):c.969+2T>G
|
rs1477313214
|
|
NM_000277.3(PAH):c.969+5G>A
|
rs62508637
|
|
NM_000277.3(PAH):c.971T>A (p.Ile324Asn)
|
|
|
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)
|
rs62508578
|
|
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter)
|
rs62508573
|
|
NM_000277.3(PAH):c.976del (p.Trp326fs)
|
rs1874741770
|
|
NM_000277.3(PAH):c.977G>A (p.Trp326Ter)
|
rs62514959
|
|
NM_000277.3(PAH):c.992T>C (p.Phe331Ser)
|
rs199475614
|
|
NM_000277.3(PAH):c.992T>G (p.Phe331Cys)
|
rs199475614
|
|
NM_000281.3(PCBD1):c.[79G>T;263G>A]
|
|
|
NM_000281.4(PCBD1):c.108_118del (p.Lys36fs)
|
|
|
NM_000281.4(PCBD1):c.111del (p.Gln37fs)
|
|
|
NM_000281.4(PCBD1):c.201dup (p.Asn68Ter)
|
|
|
NM_000281.4(PCBD1):c.236C>T (p.Thr79Ile)
|
rs121913014
|
|
NM_000281.4(PCBD1):c.272del (p.Asn91fs)
|
rs1589483932
|
|
NM_000281.4(PCBD1):c.313T>C (p.Ter105Gln)
|
rs770334825
|
|
NM_000281.4(PCBD1):c.46del (p.Leu16fs)
|
rs397518414
|
|
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)
|
rs1064797304
|
|
NM_000286.3(PEX12):c.1039_1040del (p.Glu347fs)
|
rs2142228734
|
|
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del)
|
rs267608184
|
|
NM_000286.3(PEX12):c.116del (p.His39fs)
|
rs2142231614
|
|
NM_000286.3(PEX12):c.122del (p.Val41fs)
|
|
|
NM_000286.3(PEX12):c.126+1G>A
|
rs144259891
|
|
NM_000286.3(PEX12):c.126+1G>C
|
|
|
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
|
|
|
NM_000286.3(PEX12):c.151_154del (p.His51fs)
|
rs2142231234
|
|
NM_000286.3(PEX12):c.174del (p.Trp58fs)
|
rs2142231201
|
|
NM_000286.3(PEX12):c.20_21dup (p.Phe8fs)
|
|
|
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)
|
rs765404768
|
|
NM_000286.3(PEX12):c.222dup (p.Leu75fs)
|
rs2142231111
|
|
NM_000286.3(PEX12):c.223_224del (p.Leu75fs)
|
rs1555549876
|
|
NM_000286.3(PEX12):c.260_261insAA (p.Tyr87Ter)
|
rs61752099
|
|
NM_000286.3(PEX12):c.268_269del (p.Lys90fs)
|
|
|
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)
|
rs61752100
|
|
NM_000286.3(PEX12):c.286del (p.Asp96fs)
|
|
|
NM_000286.3(PEX12):c.305_306del (p.Arg102fs)
|
rs2142230957
|
|
NM_000286.3(PEX12):c.308dup (p.Leu103fs)
|
rs61752101
|
|
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)
|
rs776731688
|
|
NM_000286.3(PEX12):c.342G>A (p.Trp114Ter)
|
rs2142230890
|
|
NM_000286.3(PEX12):c.348dup (p.Ile117fs)
|
|
|
NM_000286.3(PEX12):c.379A>T (p.Lys127Ter)
|
|
|
NM_000286.3(PEX12):c.455G>A (p.Trp152Ter)
|
|
|
NM_000286.3(PEX12):c.459del (p.Lys153fs)
|
|
|
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter)
|
rs1555549855
|
|
NM_000286.3(PEX12):c.471del (p.Ala158fs)
|
rs2142230667
|
|
NM_000286.3(PEX12):c.4del (p.Ala2fs)
|
|
|
NM_000286.3(PEX12):c.511del (p.Glu171fs)
|
rs945104524
|
|
NM_000286.3(PEX12):c.518G>A (p.Trp173Ter)
|
rs923109489
|
|
NM_000286.3(PEX12):c.51_54del (p.Gln17fs)
|
rs886041458
|
|
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)
|
rs61752102
|
|
NM_000286.3(PEX12):c.541dup (p.Tyr181fs)
|
|
|
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
|
|
|
NM_000286.3(PEX12):c.569C>G (p.Ser190Ter)
|
|
|
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
|
|
|
NM_000286.3(PEX12):c.611_612del (p.Thr204fs)
|
|
|
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)
|
rs61752106
|
|
NM_000286.3(PEX12):c.62_63del (p.Ile20_Phe21insTer)
|
rs2072797369
|
|
NM_000286.3(PEX12):c.644del (p.Pro215fs)
|
rs1199283977
|
|
NM_000286.3(PEX12):c.669del (p.Gln223fs)
|
|
|
NM_000286.3(PEX12):c.680_680+12del
|
|
|
NM_000286.3(PEX12):c.680_680+1delinsCA
|
rs2142230388
|
|
NM_000286.3(PEX12):c.684_687del (p.Ser229fs)
|
rs62642859
|
|
NM_000286.3(PEX12):c.691A>T (p.Lys231Ter)
|
rs104894616
|
|
NM_000286.3(PEX12):c.698dup (p.Asn233fs)
|
|
|
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)
|
rs1238451790
|
|
NM_000286.3(PEX12):c.725del (p.Gly242fs)
|
|
|
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)
|
rs61752107
|
|
NM_000286.3(PEX12):c.765_766dup (p.Phe256fs)
|
rs1057519507
|
|
NM_000286.3(PEX12):c.76C>T (p.Gln26Ter)
|
|
|
NM_000286.3(PEX12):c.771del (p.Leu258fs)
|
rs1555549754
|
|
NM_000286.3(PEX12):c.775C>T (p.Gln259Ter)
|
|
|
NM_000286.3(PEX12):c.781del (p.Asp262fs)
|
rs754193088
|
|
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter)
|
rs747099919
|
|
NM_000286.3(PEX12):c.795C>G (p.Tyr265Ter)
|
rs1429126106
|
|
NM_000286.3(PEX12):c.808del (p.Gln270fs)
|
|
|
NM_000286.3(PEX12):c.816dup (p.Ile273fs)
|
|
|
NM_000286.3(PEX12):c.829_832del (p.Thr277fs)
|
|
|
NM_000286.3(PEX12):c.842del (p.Thr281fs)
|
rs2072782816
|
|
NM_000286.3(PEX12):c.86del (p.Ser28_Leu29insTer)
|
|
|
NM_000286.3(PEX12):c.875_876del (p.Asn291_Ser292insTer)
|
|
|
NM_000286.3(PEX12):c.887del (p.Leu296fs)
|
|
|
NM_000286.3(PEX12):c.888_889del (p.Leu297fs)
|
rs398123301
|
|
NM_000286.3(PEX12):c.890T>G (p.Leu297Ter)
|
|
|
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer)
|
rs398123302
|
|
NM_000286.3(PEX12):c.895A>T (p.Lys299Ter)
|
rs2142228982
|
|
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.959C>T (p.Ser320Phe)
|
rs28936697
|
|
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.987_988del (p.Phe330fs)
|
rs764657253
|
|
NM_000287.4(PEX6):c.1027del (p.Arg343fs)
|
rs1388178333
|
|
NM_000287.4(PEX6):c.1036C>T (p.Gln346Ter)
|
|
|
NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter)
|
rs267608212
|
|
NM_000287.4(PEX6):c.1072del (p.Cys358fs)
|
|
|
NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter)
|
rs1478799269
|
|
NM_000287.4(PEX6):c.1098_1099del (p.Glu366fs)
|
rs1189098622
|
|
NM_000287.4(PEX6):c.10_216delinsCCACCCGGGGGCCCGTGGCCGGCGGCGGAGCTGGGCCTGGTGCTGGCCCTGAGGC (p.Ala4fs)
|
rs2150240574
|
|
NM_000287.4(PEX6):c.1109_1112del (p.Gly370fs)
|
rs2150234919
|
|
NM_000287.4(PEX6):c.1130+1G>A
|
rs267608213
|
|
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
|
|
|
NM_000287.4(PEX6):c.1138dup (p.Glu380fs)
|
rs2114248372
|
|
NM_000287.4(PEX6):c.1149_1150insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGGAAATGTTTTTT (p.Lys384delinsPhePhePhePhePhePheXaaXaaXaaXaaProProProSerArgThrGlyArgLeuAlaArgArgGlyGlyGlyTer)
|
|
|
NM_000287.4(PEX6):c.1156A>T (p.Lys386Ter)
|
rs2114248288
|
|
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter)
|
rs886044436
|
|
NM_000287.4(PEX6):c.1216dup (p.His406fs)
|
rs2114248084
|
|
NM_000287.4(PEX6):c.1263G>A (p.Trp421Ter)
|
|
|
NM_000287.4(PEX6):c.1276G>T (p.Glu426Ter)
|
|
|
NM_000287.4(PEX6):c.1301del (p.Ser434fs)
|
rs62641231
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
NM_000287.4(PEX6):c.1326dup (p.Ser443fs)
|
rs2114247458
|
|
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs)
|
rs398123303
|
|
NM_000287.4(PEX6):c.1352del (p.Pro451fs)
|
|
|
NM_000287.4(PEX6):c.1357del (p.Leu453fs)
|
rs2114247385
|
|
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)
|
rs1554127491
|
|
NM_000287.4(PEX6):c.1404del (p.Arg469fs)
|
rs267608218
|
|
NM_000287.4(PEX6):c.1406_1474del (p.Arg469_Leu491del)
|
|
|
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala)
|
rs1561823098
|
|
NM_000287.4(PEX6):c.1415del (p.Pro472fs)
|
rs267608219
|
|
NM_000287.4(PEX6):c.1415dup (p.Gly473fs)
|
|
|
NM_000287.4(PEX6):c.1504G>T (p.Glu502Ter)
|
|
|
NM_000287.4(PEX6):c.1522del (p.Glu508fs)
|
rs754684285
|
|
NM_000287.4(PEX6):c.1573dup (p.Val525fs)
|
rs2114244815
|
|
NM_000287.4(PEX6):c.1586_1587dup (p.Ala530fs)
|
|
|
NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro)
|
rs387906809
|
|
NM_000287.4(PEX6):c.1681del (p.Leu561fs)
|
rs1200299979
|
|
NM_000287.4(PEX6):c.1688+1G>A
|
rs112298166
|
|
NM_000287.4(PEX6):c.1688+1G>T
|
rs112298166
|
|
NM_000287.4(PEX6):c.1690_1693dup (p.Pro565fs)
|
rs2114242907
|
|
NM_000287.4(PEX6):c.1691del (p.Cys564fs)
|
rs2114242920
|
|
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)
|
rs61753224
|
|
NM_000287.4(PEX6):c.1750C>T (p.Gln584Ter)
|
|
|
NM_000287.4(PEX6):c.1774G>T (p.Glu592Ter)
|
rs375288192
|
|
NM_000287.4(PEX6):c.1782_1807dup (p.Ser603fs)
|
rs2114242538
|
|
NM_000287.4(PEX6):c.1790C>G (p.Ser597Ter)
|
|
|
NM_000287.4(PEX6):c.1805del (p.Leu602fs)
|
rs2114242547
|
|
NM_000287.4(PEX6):c.1891del (p.Val631fs)
|
rs2114241031
|
|
NM_000287.4(PEX6):c.1908T>A (p.Tyr636Ter)
|
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter)
|
rs1769818844
|
|
NM_000287.4(PEX6):c.1A>G (p.Met1Val)
|
|
|
NM_000287.4(PEX6):c.1A>T (p.Met1Leu)
|
|
|
NM_000287.4(PEX6):c.2010del (p.Gly671fs)
|
|
|
NM_000287.4(PEX6):c.2063del (p.Thr688fs)
|
|
|
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter)
|
rs201306028
|
|
NM_000287.4(PEX6):c.2082del (p.Gly695fs)
|
rs766483138
|
|
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)
|
|
|
NM_000287.4(PEX6):c.2095-21_2095-10del
|
rs772869377
|
|
NM_000287.4(PEX6):c.2120dup (p.Gly709fs)
|
|
|
NM_000287.4(PEX6):c.212del (p.Pro71fs)
|
rs2150240582
|
|
NM_000287.4(PEX6):c.217C>T (p.Gln73Ter)
|
|
|
NM_000287.4(PEX6):c.2244del (p.Gly749fs)
|
|
|
NM_000287.4(PEX6):c.2276_2277del (p.Thr759fs)
|
|
|
NM_000287.4(PEX6):c.2315del (p.Glu772fs)
|
|
|
NM_000287.4(PEX6):c.2364_2365del
|
rs755716911
|
|
NM_000287.4(PEX6):c.237_238del (p.Leu80fs)
|
rs1178535907
|
|
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)
|
rs62653602
|
|
NM_000287.4(PEX6):c.2410G>T (p.Glu804Ter)
|
|
|
NM_000287.4(PEX6):c.2434del (p.Arg812fs)
|
|
|
NM_000287.4(PEX6):c.2439del (p.Arg814fs)
|
rs1554126955
|
|
NM_000287.4(PEX6):c.2470del (p.Arg824fs)
|
rs2114238399
|
|
NM_000287.4(PEX6):c.2518C>T (p.Gln840Ter)
|
|
|
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)
|
rs61753230
|
|
NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)
|
|
|
NM_000287.4(PEX6):c.2667-2A>C
|
rs267608249
|
|
NM_000287.4(PEX6):c.2722C>T (p.Gln908Ter)
|
rs2114236416
|
|
NM_000287.4(PEX6):c.2754_2758del (p.Cys918_Asp920delinsTer)
|
rs2114236281
|
|
NM_000287.4(PEX6):c.286_289del (p.Ala96fs)
|
|
|
NM_000287.4(PEX6):c.2T>C (p.Met1Thr)
|
rs1554128597
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
NM_000287.4(PEX6):c.315G>A (p.Trp105Ter)
|
|
|
NM_000287.4(PEX6):c.385_388del (p.Glu129fs)
|
rs1554128501
|
|
NM_000287.4(PEX6):c.392_395del (p.Leu131fs)
|
|
|
NM_000287.4(PEX6):c.402del (p.Gly135fs)
|
|
|
NM_000287.4(PEX6):c.427_485del (p.Pro143fs)
|
|
|
NM_000287.4(PEX6):c.503_504del (p.Pro168fs)
|
|
|
NM_000287.4(PEX6):c.506_507del (p.Glu169fs)
|
rs1554128461
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
|
NM_000287.4(PEX6):c.514del (p.Asp172fs)
|
|
|
NM_000287.4(PEX6):c.514dup (p.Asp172fs)
|
rs2150239907
|
|
NM_000287.4(PEX6):c.530del (p.Pro177fs)
|
|
|
NM_000287.4(PEX6):c.531del (p.Pro179fs)
|
rs2150239870
|
|
NM_000287.4(PEX6):c.573_882+237delinsTGGTCA
|
|
|
NM_000287.4(PEX6):c.621_882+2del
|
rs1554128347
|
|
NM_000287.4(PEX6):c.630del (p.Cys211fs)
|
rs2150239689
|
|
NM_000287.4(PEX6):c.655C>T (p.Gln219Ter)
|
|
|
NM_000287.4(PEX6):c.655del (p.Gln219fs)
|
|
|
NM_000287.4(PEX6):c.656del (p.Gln219fs)
|
rs267608202
|
|
NM_000287.4(PEX6):c.668dup (p.Trp224fs)
|
|
|
NM_000287.4(PEX6):c.671G>A (p.Trp224Ter)
|
|
|
NM_000287.4(PEX6):c.689_690del (p.Glu230fs)
|
rs398123305
|
|
NM_000287.4(PEX6):c.689_690dup (p.Ser232fs)
|
rs398123305
|
|
NM_000287.4(PEX6):c.692C>G (p.Ser231Ter)
|
|
|
NM_000287.4(PEX6):c.698del (p.Asn233fs)
|
|
|
NM_000287.4(PEX6):c.706C>T (p.Gln236Ter)
|
rs779526175
|
|
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)
|
rs61753215
|
|
NM_000287.4(PEX6):c.738_741del (p.Glu246fs)
|
rs2150239487
|
|
NM_000287.4(PEX6):c.740dup (p.Arg248fs)
|
|
|
NM_000287.4(PEX6):c.746G>A (p.Trp249Ter)
|
|
|
NM_000287.4(PEX6):c.747G>A (p.Trp249Ter)
|
rs1770400284
|
|
NM_000287.4(PEX6):c.755_756del (p.Leu251_Ser252insTer)
|
|
|
NM_000287.4(PEX6):c.802_815del (p.Asp268fs)
|
rs63749004
|
|
NM_000287.4(PEX6):c.814_817dup (p.Val273fs)
|
rs367543282
|
|
NM_000287.4(PEX6):c.831_834del (p.Leu277fs)
|
|
|
NM_000287.4(PEX6):c.856del (p.Leu286fs)
|
rs267608205
|
|
NM_000287.4(PEX6):c.87G>A (p.Trp29Ter)
|
|
|
NM_000287.4(PEX6):c.882+1G>A
|
rs267608207
|
|
NM_000287.4(PEX6):c.896del (p.Gly299fs)
|
|
|
NM_000287.4(PEX6):c.909del (p.Glu304fs)
|
|
|
NM_000287.4(PEX6):c.914_923del (p.Asp305fs)
|
rs1364614470
|
|
NM_000287.4(PEX6):c.916_919del (p.Lys306fs)
|
rs2150236148
|
|
NM_000287.4(PEX6):c.959_960del (p.Glu320fs)
|
|
|
NM_000287.4(PEX6):c.993C>A (p.Tyr331Ter)
|
|
|
NM_000287.4(PEX6):c.[*438TAAA[1];2578C>T]
|
|
|
NM_000288.4(PEX7):c.105_117del (p.Gln38fs)
|
|
|
NM_000288.4(PEX7):c.10del (p.Val4fs)
|
|
|
NM_000288.4(PEX7):c.111_112del (p.Gln38fs)
|
|
|
NM_000288.4(PEX7):c.112C>T (p.Gln38Ter)
|
rs1774102216
|
|
NM_000288.4(PEX7):c.12del (p.Cys5fs)
|
|
|
NM_000288.4(PEX7):c.130+2T>G
|
rs2115122957
|
|
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.213del (p.Phe71fs)
|
rs1190462422
|
|
NM_000288.4(PEX7):c.22_31del (p.Ala8fs)
|
|
|
NM_000288.4(PEX7):c.250dup (p.Ile84fs)
|
|
|
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)
|
rs763514968
|
|
NM_000288.4(PEX7):c.289_290del (p.Thr97fs)
|
|
|
NM_000288.4(PEX7):c.294_313dup (p.Gln105fs)
|
|
|
NM_000288.4(PEX7):c.294del (p.Ala100fs)
|
rs1456007349
|
|
NM_000288.4(PEX7):c.31_56dup (p.Tyr20fs)
|
|
|
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)
|
rs62653604
|
|
NM_000288.4(PEX7):c.357G>A (p.Trp119Ter)
|
rs1554331461
|
|
NM_000288.4(PEX7):c.364del (p.Thr122fs)
|
rs2115170460
|
|
NM_000288.4(PEX7):c.370_396del (p.Gly124_Ser132del)
|
|
|
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter)
|
rs2115170536
|
|
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)
|
rs61753233
|
|
NM_000288.4(PEX7):c.45_52del (p.Gly16fs)
|
|
|
NM_000288.4(PEX7):c.45_52dup (p.His18fs)
|
rs63535662
|
|
NM_000288.4(PEX7):c.474_477del (p.Tyr159fs)
|
rs2115171634
|
|
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter)
|
rs1173171051
|
|
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs)
|
rs1774099032
|
|
NM_000288.4(PEX7):c.508del (p.Cys170fs)
|
rs1057516827
|
|
NM_000288.4(PEX7):c.517del (p.Ser173fs)
|
rs2115171791
|
|
NM_000288.4(PEX7):c.523_526dup (p.Gly176fs)
|
|
|
NM_000288.4(PEX7):c.52dup (p.His18fs)
|
|
|
NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer)
|
rs1554333636
|
|
NM_000288.4(PEX7):c.546_547del (p.Ile182fs)
|
rs2115216632
|
|
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
|
|
|
NM_000288.4(PEX7):c.57_67dup (p.Glu23fs)
|
rs2115122515
|
|
NM_000288.4(PEX7):c.652del (p.Ala218fs)
|
|
|
NM_000288.4(PEX7):c.683dup (p.Leu228fs)
|
|
|
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153
|
|
NM_000288.4(PEX7):c.751dup (p.Ser251fs)
|
|
|
NM_000288.4(PEX7):c.818C>G (p.Ser273Ter)
|
|
|
NM_000288.4(PEX7):c.858_867del (p.Glu287fs)
|
|
|
NM_000288.4(PEX7):c.860_861del (p.Glu287fs)
|
rs2115273041
|
|
NM_000297.4(PKD2):c.670del (p.Leu224fs)
|
rs1553924173
|
|
NM_000302.3(PLOD1):c.1756_1902del
|
|
|
NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter)
|
rs1569713366
|
|
NM_000302.4(PLOD1):c.1170_1192del (p.Asn391fs)
|
rs2100756997
|
|
NM_000302.4(PLOD1):c.1195C>T (p.Gln399Ter)
|
|
|
NM_000302.4(PLOD1):c.1256G>A (p.Trp419Ter)
|
|
|
NM_000302.4(PLOD1):c.1261dup (p.Ala421fs)
|
|
|
NM_000302.4(PLOD1):c.1281C>A (p.Tyr427Ter)
|
|
|
NM_000302.4(PLOD1):c.1365C>G (p.Tyr455Ter)
|
|
|
NM_000302.4(PLOD1):c.145C>T (p.Gln49Ter)
|
rs1189324317
|
|
NM_000302.4(PLOD1):c.1479dup (p.Met494fs)
|
rs1569724692
|
|
NM_000302.4(PLOD1):c.153dup (p.Asn52fs)
|
|
|
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del)
|
rs797044446
|
|
NM_000302.4(PLOD1):c.1646del (p.Glu549fs)
|
rs2100760068
|
|
NM_000302.4(PLOD1):c.1651-2A>C
|
rs565513365
|
|
NM_000302.4(PLOD1):c.1651-2del
|
rs797044447
|
|
NM_000302.4(PLOD1):c.1670_1671delinsAA (p.Trp557Ter)
|
|
|
NM_000302.4(PLOD1):c.1698T>A (p.Cys566Ter)
|
|
|
NM_000302.4(PLOD1):c.1711G>T (p.Glu571Ter)
|
|
|
NM_000302.4(PLOD1):c.1772del (p.Gly591fs)
|
rs1645855563
|
|
NM_000302.4(PLOD1):c.1795del (p.Ile599fs)
|
rs1557500194
|
|
NM_000302.4(PLOD1):c.180del (p.Glu62fs)
|
|
|
NM_000302.4(PLOD1):c.1811dup (p.Asn604fs)
|
|
|
NM_000302.4(PLOD1):c.1813C>T (p.Gln605Ter)
|
|
|
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys)
|
rs121913553
|
|
NM_000302.4(PLOD1):c.2025C>G (p.Tyr675Ter)
|
rs1434924385
|
|
NM_000302.4(PLOD1):c.272del (p.Lys91fs)
|
rs2100743480
|
|
NM_000302.4(PLOD1):c.274G>T (p.Glu92Ter)
|
|
|
NM_000302.4(PLOD1):c.327del (p.Arg111fs)
|
rs886042976
|
|
NM_000302.4(PLOD1):c.331del (p.Arg111fs)
|
|
|
NM_000302.4(PLOD1):c.367C>T (p.Gln123Ter)
|
rs1645691337
|
|
NM_000302.4(PLOD1):c.402del (p.Asp135fs)
|
rs886043926
|
|
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs)
|
rs745409628
|
|
NM_000302.4(PLOD1):c.486dup (p.Asn163fs)
|
|
|
NM_000302.4(PLOD1):c.579+1G>A
|
rs797044448
|
|
NM_000302.4(PLOD1):c.707_710del (p.Leu236fs)
|
|
|
NM_000302.4(PLOD1):c.756C>G (p.Tyr252Ter)
|
|
|
NM_000302.4(PLOD1):c.86T>A (p.Leu29Ter)
|
|
|
NM_000317.3(PTS):c.-24_9del
|
rs2135407114
|
|
NM_000317.3(PTS):c.107del (p.Asn36fs)
|
rs1859894340
|
|
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)
|
rs1449216377
|
|
NM_000317.3(PTS):c.118_121del (p.Phe40fs)
|
rs747260038
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
NM_000317.3(PTS):c.159T>G (p.Tyr53Ter)
|
rs781197929
|
|
NM_000317.3(PTS):c.163+696_163+750del
|
rs1555198165
|
|
NM_000317.3(PTS):c.164-7T>A
|
rs1555198232
|
|
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.186+1G>A
|
|
|
NM_000317.3(PTS):c.189dup (p.Asp64Ter)
|
|
|
NM_000317.3(PTS):c.1A>G (p.Met1Val)
|
rs2135407146
|
|
NM_000317.3(PTS):c.200C>A (p.Thr67Lys)
|
rs370340361
|
|
NM_000317.3(PTS):c.236_239del (p.Tyr79fs)
|
rs1399026048
|
|
NM_000317.3(PTS):c.238A>G (p.Met80Val)
|
rs1057517810
|
|
NM_000317.3(PTS):c.243G>A (p.Glu81=)
|
rs2135409211
|
|
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
|
|
|
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)
|
rs104894276
|
|
NM_000317.3(PTS):c.26G>A (p.Arg9His)
|
rs1213277062
|
|
NM_000317.3(PTS):c.272A>G (p.Lys91Arg)
|
rs761285716
|
|
NM_000317.3(PTS):c.276T>A (p.Asn92Lys)
|
|
|
NM_000317.3(PTS):c.292_293insATACTTTG (p.Pro98fs)
|
|
|
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys)
|
rs1555198458
|
|
NM_000317.3(PTS):c.308T>C (p.Val103Ala)
|
rs1555198459
|
|
NM_000317.3(PTS):c.314+2T>C
|
rs2135410340
|
|
NM_000317.3(PTS):c.315-1G>A
|
|
|
NM_000317.3(PTS):c.315-2A>G
|
rs1555198483
|
|
NM_000317.3(PTS):c.322G>T (p.Glu108Ter)
|
|
|
NM_000317.3(PTS):c.331G>A (p.Ala111Thr)
|
rs1367077861
|
|
NM_000317.3(PTS):c.342C>G (p.Ile114Met)
|
rs17851590
|
|
NM_000317.3(PTS):c.370G>C (p.Val124Leu)
|
|
|
NM_000317.3(PTS):c.379C>T (p.Leu127Phe)
|
rs1859971515
|
|
NM_000317.3(PTS):c.384T>A (p.Tyr128Ter)
|
rs1859971691
|
|
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
|
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
NM_000317.3(PTS):c.399C>A (p.Tyr133Ter)
|
rs199603175
|
|
NM_000317.3(PTS):c.3G>T (p.Met1Ile)
|
|
|
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)
|
rs779681799
|
|
NM_000317.3(PTS):c.407A>T (p.Asp136Val)
|
rs1859972447
|
|
NM_000317.3(PTS):c.73C>G (p.Arg25Gly)
|
rs1167104933
|
|
NM_000317.3(PTS):c.73C>T (p.Arg25Ter)
|
rs1167104933
|
|
NM_000317.3(PTS):c.74G>A (p.Arg25Gln)
|
rs104894273
|
|
NM_000317.3(PTS):c.84-323A>T
|
rs794726657
|
|
NM_000317.3(PTS):c.85A>T (p.Lys29Ter)
|
|
|
NM_000318.3(PEX2):c.10A>T (p.Arg4Ter)
|
rs1297517393
|
|
NM_000318.3(PEX2):c.113del (p.Thr38fs)
|
|
|
NM_000318.3(PEX2):c.115C>T (p.Gln39Ter)
|
rs61752118
|
|
NM_000318.3(PEX2):c.118del (p.Cys40fs)
|
|
|
NM_000318.3(PEX2):c.146del (p.Leu48_Leu49insTer)
|
rs2132044757
|
|
NM_000318.3(PEX2):c.15dup (p.Glu6fs)
|
|
|
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys)
|
rs61752119
|
|
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
|
|
|
NM_000318.3(PEX2):c.218del (p.Asn73fs)
|
rs1586070089
|
|
NM_000318.3(PEX2):c.220dup (p.Ala74fs)
|
rs777974798
|
|
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)
|
rs1586070043
|
|
NM_000318.3(PEX2):c.24_25del (p.Lys9fs)
|
rs2132045027
|
|
NM_000318.3(PEX2):c.272dup (p.Pro91_Asn92insTer)
|
|
|
NM_000318.3(PEX2):c.279_283del (p.Arg94fs)
|
rs61752122
|
|
NM_000318.3(PEX2):c.285T>G (p.Tyr95Ter)
|
|
|
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter)
|
rs2132044384
|
|
NM_000318.3(PEX2):c.310dup (p.Ile104fs)
|
rs1235008965
|
|
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
|
|
|
NM_000318.3(PEX2):c.318T>A (p.Tyr106Ter)
|
|
|
NM_000318.3(PEX2):c.320_326del (p.Ala107fs)
|
|
|
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.354_355del (p.Arg119fs)
|
rs1554584505
|
|
NM_000318.3(PEX2):c.369del (p.Leu123fs)
|
|
|
NM_000318.3(PEX2):c.386T>A (p.Leu129Ter)
|
rs1224224276
|
|
NM_000318.3(PEX2):c.387_396dup (p.Gly133fs)
|
rs2132044079
|
|
NM_000318.3(PEX2):c.39_40del (p.Arg13fs)
|
|
|
NM_000318.3(PEX2):c.414_426dup (p.Ile143fs)
|
|
|
NM_000318.3(PEX2):c.416_417del (p.Val139fs)
|
rs2132044032
|
|
NM_000318.3(PEX2):c.455_456insG (p.Ile152fs)
|
rs2132043966
|
|
NM_000318.3(PEX2):c.470del (p.Phe157fs)
|
|
|
NM_000318.3(PEX2):c.475C>T (p.Gln159Ter)
|
|
|
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter)
|
rs1586069639
|
|
NM_000318.3(PEX2):c.502G>T (p.Glu168Ter)
|
|
|
NM_000318.3(PEX2):c.524del (p.Ser175fs)
|
rs2132043781
|
|
NM_000318.3(PEX2):c.549_550del (p.Ile183fs)
|
rs756891007
|
|
NM_000318.3(PEX2):c.550_551insC (p.Cys184fs)
|
rs2132043724
|
|
NM_000318.3(PEX2):c.550del (p.Cys184fs)
|
rs63545361
|
|
NM_000318.3(PEX2):c.571del (p.Tyr190_Met191insTer)
|
rs2132043667
|
|
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
|
|
|
NM_000318.3(PEX2):c.618del (p.Leu207fs)
|
rs2132043567
|
|
NM_000318.3(PEX2):c.669G>A (p.Trp223Ter)
|
rs61752127
|
|
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg)
|
rs61752128
|
|
NM_000318.3(PEX2):c.77_79delinsTT (p.Asn26fs)
|
|
|
NM_000318.3(PEX2):c.79_80del (p.Lys27fs)
|
rs1261498405
|
|
NM_000318.3(PEX2):c.865dup (p.Ser289fs)
|
rs724160029
|
|
NM_000318.3(PEX2):c.91C>T (p.Gln31Ter)
|
rs149287302
|
|
NM_000320.3(QDPR):c.106T>C (p.Trp36Arg)
|
rs104893865
|
|
NM_000320.3(QDPR):c.174del (p.Ser59fs)
|
rs1577195951
|
|
NM_000320.3(QDPR):c.196C>T (p.Gln66Ter)
|
|
|
NM_000320.3(QDPR):c.198+1G>A
|
rs2108997263
|
|
NM_000320.3(QDPR):c.270G>A (p.Trp90Ter)
|
rs104893867
|
|
NM_000320.3(QDPR):c.278del (p.Gly93fs)
|
|
|
NM_000320.3(QDPR):c.322T>G (p.Trp108Gly)
|
rs104893864
|
|
NM_000320.3(QDPR):c.328C>T (p.Gln110Ter)
|
|
|
NM_000320.3(QDPR):c.366_368dup (p.Thr123dup)
|
rs2108993008
|
|
NM_000320.3(QDPR):c.383_407del (p.Glu128fs)
|
rs2108992958
|
|
NM_000320.3(QDPR):c.41T>C (p.Leu14Pro)
|
|
|
NM_000320.3(QDPR):c.421del (p.Leu141fs)
|
rs1577191558
|
|
NM_000320.3(QDPR):c.437-429A>G
|
rs2108987974
|
|
NM_000320.3(QDPR):c.449A>G (p.Tyr150Cys)
|
rs104893866
|
|
NM_000320.3(QDPR):c.488G>A (p.Ser163Asn)
|
rs2108987681
|
|
NM_000320.3(QDPR):c.48C>G (p.Tyr16Ter)
|
rs1171544975
|
|
NM_000320.3(QDPR):c.523del (p.Ala175fs)
|
|
|
NM_000320.3(QDPR):c.53del (p.Gly18fs)
|
rs2108999089
|
|
NM_000320.3(QDPR):c.576del (p.Lys192fs)
|
|
|
NM_000320.3(QDPR):c.609dup (p.Pro204fs)
|
|
|
NM_000320.3(QDPR):c.614T>G (p.Leu205Ter)
|
rs1362475419
|
|
NM_000320.3(QDPR):c.629+2T>C
|
|
|
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)
|
rs62642583
|
|
NM_000329.2:c.1_1602del
|
|
|
NM_000329.3(RPE65):c.1002del (p.Phe334fs)
|
|
|
NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter)
|
rs2100817136
|
|
NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)
|
|
|
NM_000329.3(RPE65):c.1040G>A (p.Arg347His)
|
rs562037932
|
|
NM_000329.3(RPE65):c.1059dup (p.Lys354fs)
|
rs2100817031
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)
|
rs62646883
|
|
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.1115del (p.Pro371_Leu372insTer)
|
|
|
NM_000329.3(RPE65):c.1115dup (p.Leu372fs)
|
rs2100816844
|
|
NM_000329.3(RPE65):c.1148T>G (p.Leu383Ter)
|
|
|
NM_000329.3(RPE65):c.1205_1206insCCTG (p.Trp402fs)
|
|
|
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs)
|
rs62636295
|
|
NM_000329.3(RPE65):c.1209_1210insCTGG (p.Glu404fs)
|
rs1645826120
|
|
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)
|
rs1571158755
|
|
NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter)
|
|
|
NM_000329.3(RPE65):c.1282_1303del (p.Gly428fs)
|
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)
|
|
|
NM_000329.3(RPE65):c.1299T>A (p.Tyr433Ter)
|
|
|
NM_000329.3(RPE65):c.131G>C (p.Arg44Pro)
|
|
|
NM_000329.3(RPE65):c.1336dup (p.Arg446fs)
|
|
|
NM_000329.3(RPE65):c.1338+1G>A
|
rs1057518922
|
|
NM_000329.3(RPE65):c.1360del (p.Thr454fs)
|
rs2100807036
|
|
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.138del (p.Pro47fs)
|
rs61752865
|
|
NM_000329.3(RPE65):c.1396_1397dup (p.Pro467fs)
|
|
|
NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter)
|
|
|
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)
|
rs774211361
|
|
NM_000329.3(RPE65):c.142_143del (p.Gly48fs)
|
|
|
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)
|
rs1571158279
|
|
NM_000329.3(RPE65):c.1443del (p.Asp482fs)
|
rs2100806806
|
|
NM_000329.3(RPE65):c.1451-1G>A
|
rs1317871521
|
|
NM_000329.3(RPE65):c.1451-2del
|
rs2100805351
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000329.3(RPE65):c.1459del (p.Val486_Leu487insTer)
|
|
|
NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs)
|
rs1645945978
|
|
NM_000329.3(RPE65):c.1501_1505del (p.Tyr501fs)
|
rs2100805193
|
|
NM_000329.3(RPE65):c.1503T>A (p.Tyr501Ter)
|
|
|
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)
|
rs1193631220
|
|
NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)
|
rs2100804954
|
|
NM_000329.3(RPE65):c.1590del (p.Phe530fs)
|
rs281865292
|
|
NM_000329.3(RPE65):c.1596dup (p.Ser533fs)
|
rs1645806893
|
|
NM_000329.3(RPE65):c.170T>C (p.Phe57Ser)
|
|
|
NM_000329.3(RPE65):c.190C>T (p.Gln64Ter)
|
rs1645945599
|
|
NM_000329.3(RPE65):c.190del (p.Gln64fs)
|
|
|
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)
|
rs1344724754
|
|
NM_000329.3(RPE65):c.208T>G (p.Phe70Val)
|
|
|
NM_000329.3(RPE65):c.227A>C (p.His76Pro)
|
rs1571172233
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
NM_000329.3(RPE65):c.247T>C (p.Phe83Leu)
|
rs2100828545
|
|
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
|
|
|
NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)
|
|
|
NM_000329.3(RPE65):c.336C>A (p.Cys112Ter)
|
|
|
NM_000329.3(RPE65):c.34dup (p.Tyr12fs)
|
|
|
NM_000329.3(RPE65):c.354-2A>G
|
|
|
NM_000329.3(RPE65):c.361del (p.Ser121fs)
|
rs121918844
|
|
NM_000329.3(RPE65):c.361dup (p.Ser121fs)
|
rs121918844
|
|
NM_000329.3(RPE65):c.366C>A (p.Tyr122Ter)
|
|
|
NM_000329.3(RPE65):c.3G>A (p.Met1Ile)
|
rs1357241537
|
|
NM_000329.3(RPE65):c.405T>A (p.Asn135Lys)
|
rs1645928294
|
|
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
|
|
|
NM_000329.3(RPE65):c.411C>G (p.Tyr137Ter)
|
|
|
NM_000329.3(RPE65):c.421G>T (p.Glu141Ter)
|
rs1469460289
|
|
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)
|
rs61752880
|
|
NM_000329.3(RPE65):c.432C>G (p.Tyr144Ter)
|
rs56021047
|
|
NM_000329.3(RPE65):c.440_441del (p.Thr147fs)
|
rs1201299067
|
|
NM_000329.3(RPE65):c.444_445del (p.Glu148fs)
|
rs1645927790
|
|
NM_000329.3(RPE65):c.46_49del (p.Phe16fs)
|
rs866809120
|
|
NM_000329.3(RPE65):c.495+1dup
|
rs281865288
|
|
NM_000329.3(RPE65):c.496-1G>A
|
rs2100821984
|
|
NM_000329.3(RPE65):c.504_580del (p.Cys169fs)
|
rs2100821707
|
|
NM_000329.3(RPE65):c.507C>A (p.Cys169Ter)
|
rs1645898563
|
|
NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)
|
|
|
NM_000329.3(RPE65):c.528_529del (p.Ala177fs)
|
rs2100821898
|
|
NM_000329.3(RPE65):c.544C>T (p.His182Tyr)
|
rs61752884
|
|
NM_000329.3(RPE65):c.545A>G (p.His182Arg)
|
rs1459110114
|
|
NM_000329.3(RPE65):c.596del (p.Asn199fs)
|
|
|
NM_000329.3(RPE65):c.596dup (p.Asn199fs)
|
|
|
NM_000329.3(RPE65):c.601del (p.Ser201fs)
|
|
|
NM_000329.3(RPE65):c.615_616del (p.Ile206fs)
|
rs61752888
|
|
NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)
|
|
|
NM_000329.3(RPE65):c.61del (p.Glu21fs)
|
rs758550330
|
|
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter)
|
rs777966849
|
|
NM_000329.3(RPE65):c.644-1G>A
|
|
|
NM_000329.3(RPE65):c.644-2A>T
|
rs61752891
|
|
NM_000329.3(RPE65):c.646A>T (p.Lys216Ter)
|
|
|
NM_000329.3(RPE65):c.672_673del (p.Glu224fs)
|
|
|
NM_000329.3(RPE65):c.675C>A (p.Ile225=)
|
rs114379164
|
|
NM_000329.3(RPE65):c.693C>A (p.Cys231Ter)
|
rs2100819756
|
|
NM_000329.3(RPE65):c.706A>T (p.Lys236Ter)
|
rs1645885900
|
|
NM_000329.3(RPE65):c.716dup (p.Tyr239Ter)
|
|
|
NM_000329.3(RPE65):c.717C>G (p.Tyr239Ter)
|
|
|
NM_000329.3(RPE65):c.725+1G>A
|
rs1260969698
|
|
NM_000329.3(RPE65):c.725+1G>T
|
|
|
NM_000329.3(RPE65):c.725+2T>C
|
rs1355979496
|
|
NM_000329.3(RPE65):c.726-1G>A
|
|
|
NM_000329.3(RPE65):c.726-2A>C
|
rs878853372
|
|
NM_000329.3(RPE65):c.726-2A>T
|
rs878853372
|
|
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)
|
rs373652862
|
|
NM_000329.3(RPE65):c.750del (p.Ile250fs)
|
|
|
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)
|
rs1553153135
|
|
NM_000329.3(RPE65):c.775dup (p.Ile259fs)
|
rs2100819197
|
|
NM_000329.3(RPE65):c.777dup (p.Asn260Ter)
|
rs2100819190
|
|
NM_000329.3(RPE65):c.785_787del (p.Phe262_Lys263delinsTer)
|
rs2100819151
|
|
NM_000329.3(RPE65):c.803G>A (p.Trp268Ter)
|
|
|
NM_000329.3(RPE65):c.825C>A (p.Tyr275Ter)
|
|
|
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)
|
rs988133284
|
|
NM_000329.3(RPE65):c.829_833del (p.Asp277fs)
|
rs1645882447
|
|
NM_000329.3(RPE65):c.843_858+7del
|
rs1645882103
|
|
NM_000329.3(RPE65):c.858+1G>A
|
rs61752899
|
|
NM_000329.3(RPE65):c.858+1G>C
|
|
|
NM_000329.3(RPE65):c.858+1G>T
|
rs61752899
|
|
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)
|
rs281865289
|
|
NM_000329.3(RPE65):c.859del
|
rs2100818777
|
|
NM_000329.3(RPE65):c.886del (p.Arg296fs)
|
rs746127684
|
|
NM_000329.3(RPE65):c.886dup (p.Arg296fs)
|
rs746127684
|
|
NM_000329.3(RPE65):c.893del (p.Lys298fs)
|
rs61752902
|
|
NM_000329.3(RPE65):c.894del (p.Lys298fs)
|
rs61752903
|
|
NM_000329.3(RPE65):c.89dup (p.Thr31fs)
|
rs281865286
|
|
NM_000329.3(RPE65):c.906_907del (p.Asn302fs)
|
|
|
NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)
|
rs2100818575
|
|
NM_000329.3(RPE65):c.93A>G (p.Thr31=)
|
rs2100834154
|
|
NM_000329.3(RPE65):c.943_950del (p.Ile315fs)
|
rs2100818444
|
|
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)
|
rs768448761
|
|
NM_000329.3(RPE65):c.95-1G>C
|
|
|
NM_000329.3(RPE65):c.962dup (p.Asn321fs)
|
rs61752906
|
|
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)
|
rs1169420841
|
|
NM_000329.3(RPE65):c.985del (p.Cys329fs)
|
|
|
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.998+1G>A
|
rs1645879495
|
|
NM_000329.3(RPE65):c.999-1G>T
|
|
|
NM_000329.3(RPE65):c.999-2A>G
|
|
|
NM_000329.3(RPE65):c.[1206G>A;1207_1210dup]
|
|
|
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)
|
rs121908552
|
|
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)
|
rs80338788
|
|
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)
|
rs80338957
|
|
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg)
|
rs1598406692
|
|
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)
|
rs80338792
|
|
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
|
rs121908547
|
|
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu)
|
rs121908553
|
|
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)
|
rs80338962
|
|
NM_000334.4(SCN4A):c.685del (p.Thr229fs)
|
rs1909597270
|
|
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu)
|
rs80338951
|
|
NM_000336.3(SCNN1B):c.1271-1G>C
|
|
|
NM_000336.3(SCNN1B):c.1346+1G>A
|
|
|
NM_000336.3(SCNN1B):c.84G>A (p.Trp28Ter)
|
|
|
NM_000336.3(SCNN1B):c.87C>A (p.Tyr29Ter)
|
|
|
NM_000337.6(SGCD):c.133_172dup (p.Lys58fs)
|
|
|
NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)
|
|
|
NM_000337.6(SGCD):c.289C>T (p.Arg97Ter)
|
rs758700138
|
|
NM_000337.6(SGCD):c.354_358del (p.Thr119fs)
|
rs1760626889
|
|
NM_000337.6(SGCD):c.390del (p.Ala131fs)
|
rs397517921
|
|
NM_000337.6(SGCD):c.391G>C (p.Ala131Pro)
|
rs267607045
|
|
NM_000337.6(SGCD):c.414dup (p.Phe139fs)
|
|
|
NM_000337.6(SGCD):c.466G>T (p.Glu156Ter)
|
rs2113389536
|
|
NM_000337.6(SGCD):c.481_485dup (p.Arg163fs)
|
|
|
NM_000337.6(SGCD):c.540_541del (p.Thr180_Pro181insTer)
|
|
|
NM_000337.6(SGCD):c.654_655del (p.Glu218fs)
|
|
|
NM_000337.6(SGCD):c.657del (p.Thr220fs)
|
rs1369919728
|
|
NM_000337.6(SGCD):c.65dup (p.Tyr23fs)
|
rs886043031
|
|
NM_000337.6(SGCD):c.74_77dup (p.Ile27fs)
|
rs1554094947
|
|
NM_000337.6(SGCD):c.784G>A (p.Glu262Lys)
|
rs121909297
|
|
NM_000337.6(SGCD):c.89G>A (p.Trp30Ter)
|
rs121909296
|
|
NM_000337.6(SGCD):c.90G>A (p.Trp30Ter)
|
|
|
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)
|
rs778760498
|
|
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)
|
rs61749423
|
|
NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu)
|
rs1554909277
|
|
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)
|
rs137852673
|
|
NM_000360.4(TH):c.1010C>T (p.Pro337Leu)
|
rs2133692289
|
|
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)
|
rs1590166832
|
|
NM_000360.4(TH):c.1052T>C (p.Ile351Thr)
|
rs1554922725
|
|
NM_000360.4(TH):c.1105-24T>A
|
rs587776767
|
|
NM_000360.4(TH):c.1122_1123delinsTT (p.Glu375Ter)
|
rs2133690417
|
|
NM_000360.4(TH):c.1125del (p.Glu375fs)
|
rs2133690407
|
|
NM_000360.4(TH):c.1138A>T (p.Lys380Ter)
|
rs2133690361
|
|
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
|
|
|
NM_000360.4(TH):c.1176_1180del (p.Ser394fs)
|
rs1554922593
|
|
NM_000360.4(TH):c.1189G>C (p.Gly397Arg)
|
|
|
NM_000360.4(TH):c.1210_1213del (p.Ser404fs)
|
rs2133689285
|
|
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)
|
rs575326605
|
|
NM_000360.4(TH):c.1252dup (p.Ala418fs)
|
|
|
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)
|
rs786204540
|
|
NM_000360.4(TH):c.12dup (p.Asp5fs)
|
rs1057516716
|
|
NM_000360.4(TH):c.1341T>A (p.Tyr447Ter)
|
|
|
NM_000360.4(TH):c.1354C>T (p.Gln452Ter)
|
rs2133686936
|
|
NM_000360.4(TH):c.138dup (p.Lys47fs)
|
|
|
NM_000360.4(TH):c.202del (p.Leu68fs)
|
|
|
NM_000360.4(TH):c.203del (p.Leu68fs)
|
rs1554923852
|
|
NM_000360.4(TH):c.263del (p.Pro88fs)
|
|
|
NM_000360.4(TH):c.281C>A (p.Ser94Ter)
|
rs760640869
|
|
NM_000360.4(TH):c.283del (p.Ala95fs)
|
rs797045111
|
|
NM_000360.4(TH):c.374_387dup (p.Tyr130fs)
|
rs2133697599
|
|
NM_000360.4(TH):c.412C>T (p.Arg138Ter)
|
|
|
NM_000360.4(TH):c.494G>A (p.Trp165Ter)
|
|
|
NM_000360.4(TH):c.507del (p.Val170fs)
|
|
|
NM_000360.4(TH):c.51del (p.Val18fs)
|
|
|
NM_000360.4(TH):c.545_546del (p.Lys182fs)
|
|
|
NM_000360.4(TH):c.583del (p.Ser195fs)
|
|
|
NM_000360.4(TH):c.584C>A (p.Ser195Ter)
|
rs372409517
|
|
NM_000360.4(TH):c.592del (p.Val198fs)
|
|
|
NM_000360.4(TH):c.601C>T (p.Gln201Ter)
|
rs1057517423
|
|
NM_000360.4(TH):c.628G>A (p.Ala210Thr)
|
rs1260455415
|
|
NM_000360.4(TH):c.641G>T (p.Arg214Met)
|
|
|
NM_000360.4(TH):c.672C>G (p.Tyr224Ter)
|
rs1554923218
|
|
NM_000360.4(TH):c.711del (p.Thr238fs)
|
|
|
NM_000360.4(TH):c.714_715del (p.Leu239fs)
|
rs1564918287
|
|
NM_000360.4(TH):c.724C>T (p.Leu242Phe)
|
rs1457094087
|
|
NM_000360.4(TH):c.739_743dup (p.Cys248fs)
|
|
|
NM_000360.4(TH):c.778del (p.Arg260fs)
|
|
|
NM_000360.4(TH):c.788del (p.Gly263fs)
|
rs2133693561
|
|
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
|
|
|
NM_000360.4(TH):c.78del (p.Glu27fs)
|
rs1846263622
|
|
NM_000360.4(TH):c.796G>T (p.Glu266Ter)
|
|
|
NM_000360.4(TH):c.837del (p.Lys280fs)
|
|
|
NM_000360.4(TH):c.898del (p.Leu300fs)
|
|
|
NM_000360.4(TH):c.90+10C>T
|
rs1554924321
|
|
NM_000360.4(TH):c.90+7dup
|
rs780485650
|
|
NM_000360.4(TH):c.91-833dup
|
|
|
NM_000360.4(TH):c.91-835AC[3]
|
|
|
NM_000360.4(TH):c.91-883dup
|
|
|
NM_000360.4(TH):c.916del (p.Arg306fs)
|
|
|
NM_000360.4(TH):c.917G>A (p.Arg306His)
|
rs28934580
|
|
NM_000360.4(TH):c.925C>T (p.Gln309Ter)
|
|
|
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
|
|
|
NM_000360.4(TH):c.982_991del (p.Cys328fs)
|
|
|
NM_000360.4(TH):c.983G>T (p.Cys328Phe)
|
rs121917765
|
|
NM_000360.4(TH):c.990del (p.His330fs)
|
rs1846095407
|
|
NM_000360.4(TH):c.991G>T (p.Glu331Ter)
|
rs1260079066
|
|
NM_000370.3(TTPA):c.19del (p.Gln7fs)
|
rs760014795
|
|
NM_000370.3(TTPA):c.218_219dup (p.Tyr74fs)
|
rs766675875
|
|
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)
|
rs1554524061
|
|
NM_000370.3(TTPA):c.303T>G (p.His101Gln)
|
rs121917849
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000370.3(TTPA):c.530_531delinsGTAAGT (p.Lys177fs)
|
rs1554605631
|
|
NM_000370.3(TTPA):c.553-1G>T
|
rs2129741848
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
NM_000372.5(TYR):c.1037G>T (p.Gly346Val)
|
rs773970123
|
|
NM_000372.5(TYR):c.1056del (p.Gly353_Ile354insTer)
|
rs1943996205
|
|
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys)
|
rs104894315
|
|
NM_000372.5(TYR):c.1164del (p.His389fs)
|
rs281865522
|
|
NM_000372.5(TYR):c.1185-2A>G
|
rs1289685376
|
|
NM_000372.5(TYR):c.1237del (p.Glu413fs)
|
rs1565423615
|
|
NM_000372.5(TYR):c.125A>G (p.Asp42Gly)
|
rs28940878
|
|
NM_000372.5(TYR):c.1267del (p.Glu423fs)
|
rs1565423674
|
|
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter)
|
rs1590902378
|
|
NM_000372.5(TYR):c.1322del (p.Ser441fs)
|
|
|
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)
|
rs104894318
|
|
NM_000372.5(TYR):c.1456del (p.Ala486fs)
|
rs1590909462
|
|
NM_000372.5(TYR):c.255del (p.Phe84_Tyr85insTer)
|
|
|
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr)
|
rs137854890
|
|
NM_000372.5(TYR):c.286dup (p.Met96fs)
|
rs61753190
|
|
NM_000372.5(TYR):c.338_339del (p.Thr113fs)
|
rs61753254
|
|
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs)
|
rs1565386582
|
|
NM_000372.5(TYR):c.391_393del (p.Lys131del)
|
rs1413017181
|
|
NM_000372.5(TYR):c.572del (p.Gly191fs)
|
rs61754361
|
|
NM_000372.5(TYR):c.616G>A (p.Ala206Thr)
|
rs28940880
|
|
NM_000372.5(TYR):c.655G>A (p.Glu219Lys)
|
rs747995722
|
|
NM_000372.5(TYR):c.661G>A (p.Glu221Lys)
|
rs758115945
|
|
NM_000372.5(TYR):c.714G>A (p.Trp238Ter)
|
rs1565386964
|
|
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)
|
rs61754368
|
|
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter)
|
rs765329261
|
|
NM_000372.5(TYR):c.820-3C>G
|
rs61754371
|
|
NM_000372.5(TYR):c.859dup (p.Ser287fs)
|
rs2135253148
|
|
NM_000372.5(TYR):c.895C>A (p.Arg299Ser)
|
rs61754374
|
|
NM_000372.5(TYR):c.929dup (p.Arg311fs)
|
rs281865527
|
|
NM_000372.5(TYR):c.976C>T (p.Gln326Ter)
|
rs540911439
|
|
NM_000372.5(TYR):c.982G>A (p.Glu328Lys)
|
rs61754380
|
|
NM_000382.2(ALDH3A2):c.153+5_386-408delins19
|
|
|
NM_000382.2(ALDH3A2):c.[733G>A;901G>C;906delT;909T>G]
|
|
|
NM_000382.3(ALDH3A2):c.1003C>T (p.Pro335Ser)
|
|
|
NM_000382.3(ALDH3A2):c.103C>T (p.Gln35Ter)
|
|
|
NM_000382.3(ALDH3A2):c.1108-1G>C
|
rs1036733598
|
|
NM_000382.3(ALDH3A2):c.1187_1188del (p.Ser396fs)
|
|
|
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs)
|
rs781059624
|
|
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)
|
rs387906256
|
|
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs)
|
rs387906257
|
|
NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter)
|
rs1567607328
|
|
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs)
|
rs767751416
|
|
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
|
rs72547554
|
|
NM_000382.3(ALDH3A2):c.371_373del (p.Gly124del)
|
|
|
NM_000382.3(ALDH3A2):c.374_378del (p.Ala125fs)
|
rs886039304
|
|
NM_000382.3(ALDH3A2):c.385+2T>C
|
rs2084819840
|
|
NM_000382.3(ALDH3A2):c.471+1G>C
|
|
|
NM_000382.3(ALDH3A2):c.471+1del
|
rs786204741
|
|
NM_000382.3(ALDH3A2):c.472-2A>G
|
|
|
NM_000382.3(ALDH3A2):c.50C>A (p.Ser17Ter)
|
rs1447023449
|
|
NM_000382.3(ALDH3A2):c.521del (p.Leu174fs)
|
|
|
NM_000382.3(ALDH3A2):c.608del (p.Pro203fs)
|
|
|
NM_000382.3(ALDH3A2):c.631A>G (p.Lys211Glu)
|
|
|
NM_000382.3(ALDH3A2):c.639_640del (p.Cys214fs)
|
|
|
NM_000382.3(ALDH3A2):c.641G>A (p.Cys214Tyr)
|
|
|
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)
|
rs72547567
|
|
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter)
|
rs1555533754
|
|
NM_000382.3(ALDH3A2):c.798+1del
|
rs757359379
|
|
NM_000382.3(ALDH3A2):c.798+5G>A
|
|
|
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn)
|
rs72547569
|
|
NM_000382.3(ALDH3A2):c.809del (p.Gly270fs)
|
|
|
NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)
|
|
|
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
|
|
|
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)
|
rs730880264
|
|
NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)
|
|
|
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)
|
rs779956047
|
|
NM_000384.2(APOB):c.11905del
|
rs387906569
|
|
NM_000384.3(APOB):c.12181del (p.Glu4061fs)
|
rs121918385
|
|
NM_000384.3(APOB):c.2786del (p.Pro929fs)
|
rs1553385404
|
|
NM_000384.3(APOB):c.3614_3625delinsCTTAGG (p.His1205_Asn1209delinsProTer)
|
rs1553384441
|
|
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter)
|
rs121918383
|
|
NM_000384.3(APOB):c.4089C>G (p.Tyr1363Ter)
|
rs1553384177
|
|
NM_000384.3(APOB):c.4352del (p.Gly1451fs)
|
rs397514256
|
|
NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter)
|
rs121918389
|
|
NM_000384.3(APOB):c.5238T>G (p.Tyr1746Ter)
|
rs1553383898
|
|
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs)
|
rs281865425
|
|
NM_000384.3(APOB):c.5463del (p.His1822fs)
|
rs397514255
|
|
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs)
|
rs121918384
|
|
NM_000384.3(APOB):c.819-2A>G
|
rs1572800245
|
|
NM_000384.3(APOB):c.905-1_905dup
|
rs606231236
|
|
NM_000384.3(APOB):c.9200del (p.Lys3067fs)
|
rs121918387
|
|
NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp)
|
rs886037833
|
|
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)
|
rs786204753
|
|
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)
|
rs202189057
|
|
NM_000391.4(TPP1):c.357dup (p.Leu120fs)
|
rs1554902085
|
|
NM_000391.4(TPP1):c.89+1G>A
|
rs1855631590
|
|
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)
|
rs587778271
|
|
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
|
|
|
NM_000400.4(ERCC2):c.1808_1809del (p.Lys603fs)
|
|
|
NM_000400.4(ERCC2):c.1997G>A (p.Arg666Gln)
|
rs1971845337
|
|
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs)
|
rs1971844960
|
|
NM_000400.4(ERCC2):c.2009del (p.Gly670fs)
|
rs1971844830
|
|
NM_000400.4(ERCC2):c.2190+1del
|
rs1476160722
|
|
NM_000400.4(ERCC2):c.361-1G>A
|
|
|
NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer)
|
rs767747355
|
|
NM_000400.4(ERCC2):c.594+2_594+5del
|
rs762309206
|
|
NM_000414.4(HSD17B4):c.1117del (p.Cys373fs)
|
|
|
NM_000414.4(HSD17B4):c.1147C>T (p.Gln383Ter)
|
rs1750958514
|
|
NM_000414.4(HSD17B4):c.1168G>T (p.Gly390Ter)
|
|
|
NM_000414.4(HSD17B4):c.1210-1G>A
|
rs1554065671
|
|
NM_000414.4(HSD17B4):c.1230C>G (p.Tyr410Ter)
|
rs763891697
|
|
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs)
|
rs2126790164
|
|
NM_000414.4(HSD17B4):c.1235_1236del (p.Glu412fs)
|
rs2126790168
|
|
NM_000414.4(HSD17B4):c.1352del (p.Lys451fs)
|
rs1751933402
|
|
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp)
|
rs137853097
|
|
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
|
rs137853097
|
|
NM_000414.4(HSD17B4):c.1383_1384del (p.Phe462fs)
|
rs2126814260
|
|
NM_000414.4(HSD17B4):c.1424C>G (p.Ser475Ter)
|
rs1751944228
|
|
NM_000414.4(HSD17B4):c.1426_1429del (p.Asp476fs)
|
|
|
NM_000414.4(HSD17B4):c.1480_1481insGA (p.Thr494fs)
|
rs775060894
|
|
NM_000414.4(HSD17B4):c.1499_1502del (p.Asn500fs)
|
|
|
NM_000414.4(HSD17B4):c.1499del (p.Asn500fs)
|
rs2126834942
|
|
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr)
|
rs764300456
|
|
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu)
|
rs587777444
|
|
NM_000414.4(HSD17B4):c.1545C>G (p.His515Gln)
|
|
|
NM_000414.4(HSD17B4):c.1578del (p.Phe526fs)
|
rs1561485663
|
|
NM_000414.4(HSD17B4):c.1578dup (p.Asp527Ter)
|
|
|
NM_000414.4(HSD17B4):c.1592T>G (p.Leu531Ter)
|
|
|
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)
|
rs201009485
|
|
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs)
|
rs1057517323
|
|
NM_000414.4(HSD17B4):c.1659_1660dup (p.Ser554fs)
|
rs1753560558
|
|
NM_000414.4(HSD17B4):c.1708G>T (p.Gly570Ter)
|
rs2126880873
|
|
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs)
|
rs1057516936
|
|
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs)
|
rs1554068426
|
|
NM_000414.4(HSD17B4):c.187A>T (p.Arg63Ter)
|
|
|
NM_000414.4(HSD17B4):c.1898_1902del (p.Arg633fs)
|
|
|
NM_000414.4(HSD17B4):c.1921G>T (p.Glu641Ter)
|
rs1754083341
|
|
NM_000414.4(HSD17B4):c.1951G>T (p.Glu651Ter)
|
rs1754087713
|
|
NM_000414.4(HSD17B4):c.1954_1970del (p.Trp652fs)
|
rs2126896587
|
|
NM_000414.4(HSD17B4):c.1956G>A (p.Trp652Ter)
|
|
|
NM_000414.4(HSD17B4):c.1986del (p.Lys663fs)
|
|
|
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter)
|
rs751646311
|
|
NM_000414.4(HSD17B4):c.270del (p.Phe90fs)
|
rs1276397342
|
|
NM_000414.4(HSD17B4):c.283_302+2delinsATATAAAAAAAGAAAA
|
|
|
NM_000414.4(HSD17B4):c.293A>G (p.Asn98Ser)
|
rs1392361503
|
|
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs)
|
rs1057516672
|
|
NM_000414.4(HSD17B4):c.302+1G>A
|
rs2126689875
|
|
NM_000414.4(HSD17B4):c.343del (p.Asp115fs)
|
|
|
NM_000414.4(HSD17B4):c.363_364del (p.Arg121fs)
|
|
|
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)
|
rs2126696915
|
|
NM_000414.4(HSD17B4):c.439del (p.Ile147fs)
|
rs2126702418
|
|
NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe)
|
rs1307944675
|
|
NM_000414.4(HSD17B4):c.561dup (p.His188fs)
|
|
|
NM_000414.4(HSD17B4):c.58+1G>C
|
rs1260517680
|
|
NM_000414.4(HSD17B4):c.590_597dup (p.Met200fs)
|
rs2126703106
|
|
NM_000414.4(HSD17B4):c.605dup (p.Thr203fs)
|
rs2126703227
|
|
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys)
|
rs387906825
|
|
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)
|
rs1749878115
|
|
NM_000414.4(HSD17B4):c.657del (p.Pro220fs)
|
rs2126740125
|
|
NM_000414.4(HSD17B4):c.657dup (p.Pro220fs)
|
|
|
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)
|
rs765702241
|
|
NM_000414.4(HSD17B4):c.682G>T (p.Glu228Ter)
|
rs746702458
|
|
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs)
|
rs2126740316
|
|
NM_000414.4(HSD17B4):c.707T>A (p.Leu236Ter)
|
|
|
NM_000414.4(HSD17B4):c.718G>T (p.Gly240Ter)
|
|
|
NM_000414.4(HSD17B4):c.728G>A (p.Trp243Ter)
|
rs2126751711
|
|
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)
|
|
|
NM_000414.4(HSD17B4):c.740T>G (p.Leu247Ter)
|
rs144141837
|
|
NM_000414.4(HSD17B4):c.818G>A (p.Trp273Ter)
|
|
|
NM_000414.4(HSD17B4):c.857del (p.Gln286fs)
|
|
|
NM_000414.4(HSD17B4):c.868+1del
|
rs749532705
|
|
NM_000414.4(HSD17B4):c.889G>T (p.Glu297Ter)
|
|
|
NM_000414.4(HSD17B4):c.911C>G (p.Ser304Ter)
|
rs958986994
|
|
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)
|
rs758055753
|
|
NM_000426.4(LAMA2):c.1255del (p.Ile419fs)
|
rs1185229314
|
|
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)
|
rs750731624
|
|
NM_000426.4(LAMA2):c.391C>T (p.Gln131Ter)
|
rs1562200866
|
|
NM_000426.4(LAMA2):c.3924+2T>C
|
rs1554269966
|
|
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs)
|
rs1776950897
|
|
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs)
|
rs1392196900
|
|
NM_000426.4(LAMA2):c.4860+2delinsGGCC
|
rs1562497781
|
|
NM_000426.4(LAMA2):c.4959+1del
|
rs1583591577
|
|
NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)
|
|
|
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)
|
rs121913576
|
|
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro)
|
rs1562273395
|
|
NM_000426.4(LAMA2):c.872del (p.Gly291fs)
|
rs1222620175
|
|
NM_000440.3(PDE6A):c.2027+5G>T
|
rs794727166
|
|
NM_000441.1(SLC26A4):c.1342-2_1343dup
|
rs111033407
|
|
NM_000441.1(SLC26A4):c.[1468A>C;1489G>A]
|
|
|
NM_000441.1(SLC26A4):c.[349C>T];[578C>T]
|
|
|
NM_000441.2(SLC26A4):c.1001+1G>T
|
rs80338849
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
NM_000441.2(SLC26A4):c.1002-4C>G
|
rs2129315781
|
|
NM_000441.2(SLC26A4):c.1022dup (p.Pro342fs)
|
|
|
NM_000441.2(SLC26A4):c.1054del (p.Ala352fs)
|
rs2129315801
|
|
NM_000441.2(SLC26A4):c.1087A>C (p.Ile363Leu)
|
rs141158498
|
|
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter)
|
rs371544695
|
|
NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu)
|
rs121908361
|
|
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val)
|
rs121908364
|
|
NM_000441.2(SLC26A4):c.1147del (p.Gln383fs)
|
rs1374999656
|
|
NM_000441.2(SLC26A4):c.1149+1G>A
|
|
|
NM_000441.2(SLC26A4):c.1149+1del
|
rs1060499807
|
|
NM_000441.2(SLC26A4):c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC (p.Phe385_Ile386delinsSerAlaThrSerSerGlnAspSerSerLeu)
|
|
|
NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs)
|
rs1554358720
|
|
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)
|
rs201562855
|
|
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del)
|
rs777008062
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)
|
rs397516414
|
|
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)
|
rs201660407
|
|
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu)
|
rs201660407
|
|
NM_000441.2(SLC26A4):c.1263+1G>A
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1264-12T>A
|
rs2129316889
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs)
|
rs2129316898
|
|
NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter)
|
rs1562835480
|
|
NM_000441.2(SLC26A4):c.1327G>C (p.Glu443Gln)
|
rs2129316906
|
|
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)
|
rs768471577
|
|
NM_000441.2(SLC26A4):c.1339A>T (p.Lys447Ter)
|
rs1284633493
|
|
NM_000441.2(SLC26A4):c.1340del (p.Lys447fs)
|
rs1562835515
|
|
NM_000441.2(SLC26A4):c.1341+1del
|
rs397516417
|
|
NM_000441.2(SLC26A4):c.1342-1_1342insCTG
|
rs2129316936
|
|
NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter)
|
rs747076316
|
|
NM_000441.2(SLC26A4):c.1369A>G (p.Asn457Asp)
|
rs2129316944
|
|
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)
|
rs1554359670
|
|
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)
|
rs201636911
|
|
NM_000441.2(SLC26A4):c.1437+2T>G
|
rs397516418
|
|
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs)
|
rs1584331188
|
|
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)
|
rs786204601
|
|
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala)
|
rs727505088
|
|
NM_000441.2(SLC26A4):c.1536_1537del (p.Arg512fs)
|
|
|
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys)
|
rs121908366
|
|
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)
|
rs786204450
|
|
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter)
|
rs727503428
|
|
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu)
|
rs765197819
|
|
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)
|
rs1554360358
|
|
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)
|
rs786204739
|
|
NM_000441.2(SLC26A4):c.1594A>C (p.Ser532Arg)
|
rs2129317533
|
|
NM_000441.2(SLC26A4):c.1614+1G>T
|
rs111033312
|
|
NM_000441.2(SLC26A4):c.164+1del
|
rs786204504
|
|
NM_000441.2(SLC26A4):c.164+2T>C
|
rs397516420
|
|
NM_000441.2(SLC26A4):c.164+2T>G
|
|
|
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)
|
rs1554360678
|
|
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)
|
rs746427774
|
|
NM_000441.2(SLC26A4):c.1716T>A (p.Phe572Leu)
|
rs2129318096
|
|
NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter)
|
rs1476190682
|
|
NM_000441.2(SLC26A4):c.1803+1G>C
|
rs2129318119
|
|
NM_000441.2(SLC26A4):c.1803+2T>C
|
rs768454870
|
|
NM_000441.2(SLC26A4):c.1828del (p.Ser610fs)
|
rs2129318234
|
|
NM_000441.2(SLC26A4):c.1829C>A (p.Ser610Ter)
|
rs1562839439
|
|
NM_000441.2(SLC26A4):c.1985G>A (p.Cys662Tyr)
|
rs2129318278
|
|
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
|
rs2129318281
|
|
NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser)
|
rs121908360
|
|
NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys)
|
rs121908360
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2028del (p.Arg677fs)
|
rs2129318300
|
|
NM_000441.2(SLC26A4):c.2034+1G>T
|
|
|
NM_000441.2(SLC26A4):c.2039del (p.Val680fs)
|
rs2129318784
|
|
NM_000441.2(SLC26A4):c.2044G>T (p.Glu682Ter)
|
rs1554361584
|
|
NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu)
|
rs1399914687
|
|
NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs)
|
rs1554362735
|
|
NM_000441.2(SLC26A4):c.2107C>G (p.Leu703Val)
|
rs2129319905
|
|
NM_000441.2(SLC26A4):c.2108T>C (p.Leu703Pro)
|
rs1584344549
|
|
NM_000441.2(SLC26A4):c.2113C>T (p.Gln705Ter)
|
|
|
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)
|
rs142656144
|
|
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)
|
rs786204523
|
|
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)
|
rs397516427
|
|
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)
|
rs1417146153
|
|
NM_000441.2(SLC26A4):c.2182_2183insG (p.Tyr728Ter)
|
rs1584344687
|
|
NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs)
|
rs1792142540
|
|
NM_000441.2(SLC26A4):c.2224del (p.Ile742fs)
|
rs876657723
|
|
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter)
|
rs1057517303
|
|
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser)
|
rs1554352676
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_000441.2(SLC26A4):c.248G>A (p.Trp83Ter)
|
|
|
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter)
|
rs1057516658
|
|
NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg)
|
rs2129309202
|
|
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.296C>G (p.Thr99Arg)
|
rs141142414
|
|
NM_000441.2(SLC26A4):c.304+2T>C
|
rs746238617
|
|
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)
|
rs1219724284
|
|
NM_000441.2(SLC26A4):c.305-1G>A
|
rs1243584839
|
|
NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp)
|
rs1562822565
|
|
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser)
|
rs1409565648
|
|
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)
|
rs786204730
|
|
NM_000441.2(SLC26A4):c.387del (p.Phe130fs)
|
rs2129311265
|
|
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)
|
rs121908365
|
|
NM_000441.2(SLC26A4):c.3G>A (p.Met1Ile)
|
rs786204426
|
|
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)
|
rs111033199
|
|
NM_000441.2(SLC26A4):c.414del (p.Gly139fs)
|
|
|
NM_000441.2(SLC26A4):c.415+2T>C
|
rs2129311282
|
|
NM_000441.2(SLC26A4):c.416-1G>A
|
rs1057516988
|
|
NM_000441.2(SLC26A4):c.421T>C (p.Phe141Leu)
|
rs2129311722
|
|
NM_000441.2(SLC26A4):c.574del (p.Ala191_Leu192insTer)
|
|
|
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)
|
rs111033380
|
|
NM_000441.2(SLC26A4):c.589G>T (p.Gly197Ter)
|
rs111033380
|
|
NM_000441.2(SLC26A4):c.593_600+8del
|
rs2129311772
|
|
NM_000441.2(SLC26A4):c.600+2T>A
|
rs1057516881
|
|
NM_000441.2(SLC26A4):c.600+2T>C
|
rs1057516881
|
|
NM_000441.2(SLC26A4):c.601-1G>A
|
rs1554355011
|
|
NM_000441.2(SLC26A4):c.624_632delinsACTTGGC (p.Gly209fs)
|
rs2129311939
|
|
NM_000441.2(SLC26A4):c.641A>G (p.Tyr214Cys)
|
rs773861155
|
|
NM_000441.2(SLC26A4):c.664G>A (p.Gly222Ser)
|
|
|
NM_000441.2(SLC26A4):c.667_669dup (p.Phe223dup)
|
rs2129311948
|
|
NM_000441.2(SLC26A4):c.668T>C (p.Phe223Ser)
|
|
|
NM_000441.2(SLC26A4):c.698_701del (p.Val233fs)
|
rs2129311957
|
|
NM_000441.2(SLC26A4):c.703C>T (p.Gln235Ter)
|
rs2129311961
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000441.2(SLC26A4):c.737del (p.Asn246fs)
|
rs918684449
|
|
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)
|
rs1315422549
|
|
NM_000441.2(SLC26A4):c.79T>C (p.Tyr27His)
|
rs2129308726
|
|
NM_000441.2(SLC26A4):c.812A>G (p.Asp271Gly)
|
rs2129314461
|
|
NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly)
|
rs1554352234
|
|
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)
|
rs111033205
|
|
NM_000441.2(SLC26A4):c.890del (p.Pro297fs)
|
rs786204600
|
|
NM_000441.2(SLC26A4):c.917del (p.Val306fs)
|
rs1584317722
|
|
NM_000441.2(SLC26A4):c.918+1G>T
|
rs111033245
|
|
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter)
|
rs1554357231
|
|
NM_000441.2(SLC26A4):c.997dup (p.Arg333fs)
|
rs431905486
|
|
NM_000445.5(PLEC):c.106_119dup (p.Gly44fs)
|
rs2133006435
|
|
NM_000466.3(PEX1):c.1012_1016del (p.Leu338fs)
|
rs2116243800
|
|
NM_000466.3(PEX1):c.1025del (p.Lys342fs)
|
|
|
NM_000466.3(PEX1):c.1027C>T (p.Gln343Ter)
|
|
|
NM_000466.3(PEX1):c.1048C>T (p.Gln350Ter)
|
|
|
NM_000466.3(PEX1):c.1076del (p.Lys359fs)
|
rs1057517465
|
|
NM_000466.3(PEX1):c.1099del (p.Gln367fs)
|
rs1403870448
|
|
NM_000466.3(PEX1):c.1108del (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.1108dup (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.1131del (p.Asp378fs)
|
rs886043479
|
|
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)
|
rs1585254187
|
|
NM_000466.3(PEX1):c.1164G>A (p.Trp388Ter)
|
|
|
NM_000466.3(PEX1):c.1171_1183del (p.Leu391fs)
|
|
|
NM_000466.3(PEX1):c.1208del (p.Asn403fs)
|
rs1376037318
|
|
NM_000466.3(PEX1):c.1239G>A (p.Trp413Ter)
|
|
|
NM_000466.3(PEX1):c.1240_1359del (p.Ile414_Leu453del)
|
rs2116220949
|
|
NM_000466.3(PEX1):c.130-2A>G
|
rs1585260993
|
|
NM_000466.3(PEX1):c.1342C>T (p.Gln448Ter)
|
rs1467651370
|
|
NM_000466.3(PEX1):c.1375G>T (p.Glu459Ter)
|
|
|
NM_000466.3(PEX1):c.1393_1394del (p.Val465fs)
|
rs1164941642
|
|
NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter)
|
rs758402265
|
|
NM_000466.3(PEX1):c.1422_1425del (p.Thr475fs)
|
|
|
NM_000466.3(PEX1):c.1456G>T (p.Glu486Ter)
|
rs2116209376
|
|
NM_000466.3(PEX1):c.1483+1G>A
|
rs1585244586
|
|
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs)
|
rs786204743
|
|
NM_000466.3(PEX1):c.1522dup (p.Glu508fs)
|
rs1057517463
|
|
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)
|
rs754983126
|
|
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
|
|
|
NM_000466.3(PEX1):c.1652dup (p.Leu551fs)
|
|
|
NM_000466.3(PEX1):c.1671_1672del
|
|
|
NM_000466.3(PEX1):c.1672G>T (p.Gly558Ter)
|
rs2116181877
|
|
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)
|
rs786204606
|
|
NM_000466.3(PEX1):c.1727dup (p.Arg577fs)
|
rs1585238595
|
|
NM_000466.3(PEX1):c.1728del (p.Arg577fs)
|
|
|
NM_000466.3(PEX1):c.1742_1756del (p.Arg581_Ser585del)
|
|
|
NM_000466.3(PEX1):c.1792del (p.Thr598fs)
|
rs886037783
|
|
NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter)
|
rs1792186595
|
|
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)
|
rs1554372561
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
NM_000466.3(PEX1):c.1855A>T (p.Lys619Ter)
|
|
|
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)
|
rs1398892633
|
|
NM_000466.3(PEX1):c.1891del (p.Ala631fs)
|
rs2075434480
|
|
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)
|
rs61750409
|
|
NM_000466.3(PEX1):c.1897del (p.Arg633fs)
|
|
|
NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del)
|
rs1554372074
|
|
NM_000466.3(PEX1):c.1908del (p.Arg636fs)
|
rs1057517478
|
|
NM_000466.3(PEX1):c.1916dup (p.Asn639fs)
|
rs2116166262
|
|
NM_000466.3(PEX1):c.1927del (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1927dup (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1955del (p.Val652fs)
|
rs2116165935
|
|
NM_000466.3(PEX1):c.1963C>T (p.Gln655Ter)
|
rs2116165809
|
|
NM_000466.3(PEX1):c.1A>C (p.Met1Leu)
|
rs1057517501
|
|
NM_000466.3(PEX1):c.2001dup (p.Ala668fs)
|
|
|
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)
|
rs61750412
|
|
NM_000466.3(PEX1):c.2039del (p.Pro680fs)
|
rs1269903353
|
|
NM_000466.3(PEX1):c.2050C>T (p.Gln684Ter)
|
|
|
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
|
|
|
NM_000466.3(PEX1):c.2083_2084del (p.Met695fs)
|
rs2116156265
|
|
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)
|
rs267608178
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)
|
rs1057517468
|
|
NM_000466.3(PEX1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter)
|
rs1792013985
|
|
NM_000466.3(PEX1):c.2164del (p.Val723fs)
|
rs1792013807
|
|
NM_000466.3(PEX1):c.2175_2176del (p.Gln726fs)
|
|
|
NM_000466.3(PEX1):c.2176C>T (p.Gln726Ter)
|
rs786205655
|
|
NM_000466.3(PEX1):c.2234del (p.Arg745fs)
|
|
|
NM_000466.3(PEX1):c.2268dup (p.Leu757fs)
|
|
|
NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter)
|
|
|
NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs)
|
rs1791951634
|
|
NM_000466.3(PEX1):c.2361del (p.Val788fs)
|
|
|
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)
|
rs61750414
|
|
NM_000466.3(PEX1):c.2396dup (p.Ser800fs)
|
rs778871894
|
|
NM_000466.3(PEX1):c.2416+1G>A
|
|
|
NM_000466.3(PEX1):c.2420T>A (p.Leu807Ter)
|
|
|
NM_000466.3(PEX1):c.2464_2477dup (p.Leu826fs)
|
rs1463323645
|
|
NM_000466.3(PEX1):c.2468del (p.Pro823fs)
|
rs766947924
|
|
NM_000466.3(PEX1):c.2471del (p.Ala824fs)
|
rs1585231093
|
|
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)
|
rs1232449804
|
|
NM_000466.3(PEX1):c.2480del (p.Arg827fs)
|
|
|
NM_000466.3(PEX1):c.249del (p.Lys83fs)
|
rs1793076317
|
|
NM_000466.3(PEX1):c.2516G>A (p.Trp839Ter)
|
rs2116145324
|
|
NM_000466.3(PEX1):c.2550dup (p.Ile851fs)
|
rs2116145117
|
|
NM_000466.3(PEX1):c.2582del (p.Lys861fs)
|
|
|
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.2692_2693del (p.Glu897_Ser898insTer)
|
rs2116132444
|
|
NM_000466.3(PEX1):c.269del (p.Gly90fs)
|
rs1275822594
|
|
NM_000466.3(PEX1):c.2719-1G>T
|
|
|
NM_000466.3(PEX1):c.2738_2741dup (p.Tyr914Ter)
|
rs2116110975
|
|
NM_000466.3(PEX1):c.2760del (p.Ala921fs)
|
rs1256376226
|
|
NM_000466.3(PEX1):c.2783+1del
|
|
|
NM_000466.3(PEX1):c.2788C>T (p.Gln930Ter)
|
|
|
NM_000466.3(PEX1):c.2798dup (p.Pro934fs)
|
rs1057517484
|
|
NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer)
|
rs1791555145
|
|
NM_000466.3(PEX1):c.2852dup (p.His951fs)
|
rs767877383
|
|
NM_000466.3(PEX1):c.2859dup (p.Thr954fs)
|
rs1057517472
|
|
NM_000466.3(PEX1):c.2861_2862dup (p.Gly955fs)
|
|
|
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)
|
rs1057517481
|
|
NM_000466.3(PEX1):c.2915_2916dup (p.Gly973fs)
|
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_000466.3(PEX1):c.2922del (p.Leu974fs)
|
rs762324548
|
|
NM_000466.3(PEX1):c.2926+1del
|
rs1791544171
|
|
NM_000466.3(PEX1):c.2977dup (p.Leu993fs)
|
rs2116091859
|
|
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.3003dup (p.Cys1002fs)
|
rs1562847911
|
|
NM_000466.3(PEX1):c.3005_3011dup (p.Tyr1004Ter)
|
rs2116091512
|
|
NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys)
|
rs1791439311
|
|
NM_000466.3(PEX1):c.3068_3071del (p.Ser1023fs)
|
|
|
NM_000466.3(PEX1):c.3070_3071del (p.Leu1024fs)
|
rs1312351030
|
|
NM_000466.3(PEX1):c.3094dup (p.Leu1032fs)
|
|
|
NM_000466.3(PEX1):c.3115del (p.Thr1039fs)
|
rs1562846257
|
|
NM_000466.3(PEX1):c.3118_3121del (p.Asp1040fs)
|
|
|
NM_000466.3(PEX1):c.3152_3156del (p.Leu1051fs)
|
rs2116077430
|
|
NM_000466.3(PEX1):c.3158dup (p.Asn1053fs)
|
rs2116077400
|
|
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs)
|
rs61750430
|
|
NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)
|
rs1562846113
|
|
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
|
|
|
NM_000466.3(PEX1):c.3258del (p.Asn1088fs)
|
rs2116059954
|
|
NM_000466.3(PEX1):c.3259_3260del (p.Phe1086_Leu1087insTer)
|
rs2116059937
|
|
NM_000466.3(PEX1):c.3261_3262insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCTGGCGGTCGGGCGGCGGCGGCTGCCTCAATGGTCTTTCTT (p.Leu1087_Asn1088insPhePhePhePhePhePheXaaXaaXaaXaaAlaAlaAlaLysThrGluThrAlaProLeuProAlaGluLeuHisProProGlyGlyArgAlaAlaAlaAlaAlaSerMetValPheLeu)
|
|
|
NM_000466.3(PEX1):c.3287C>G (p.Ser1096Ter)
|
|
|
NM_000466.3(PEX1):c.3301G>T (p.Glu1101Ter)
|
rs2116059303
|
|
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)
|
rs886043558
|
|
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)
|
rs1585214453
|
|
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs)
|
rs794729652
|
|
NM_000466.3(PEX1):c.3400dup (p.Tyr1134fs)
|
|
|
NM_000466.3(PEX1):c.3409G>T (p.Glu1137Ter)
|
|
|
NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter)
|
rs1459743428
|
|
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.34G>T (p.Gly12Ter)
|
rs1793402720
|
|
NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)
|
|
|
NM_000466.3(PEX1):c.3505_3517del (p.Gln1169fs)
|
rs727504076
|
|
NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)
|
|
|
NM_000466.3(PEX1):c.3568C>T (p.Gln1190Ter)
|
rs1281995042
|
|
NM_000466.3(PEX1):c.357+1G>T
|
rs866144313
|
|
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)
|
rs1057517467
|
|
NM_000466.3(PEX1):c.3579del (p.Asp1194fs)
|
rs1554366802
|
|
NM_000466.3(PEX1):c.358-1G>T
|
rs1057517479
|
|
NM_000466.3(PEX1):c.3592del (p.Ala1198fs)
|
|
|
NM_000466.3(PEX1):c.3622del (p.Arg1208fs)
|
rs1791174009
|
|
NM_000466.3(PEX1):c.3624del (p.Ser1209fs)
|
|
|
NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)
|
|
|
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
|
rs769836601
|
|
NM_000466.3(PEX1):c.3767+2T>C
|
|
|
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.43del (p.Ala15fs)
|
|
|
NM_000466.3(PEX1):c.46del (p.Ala16fs)
|
|
|
NM_000466.3(PEX1):c.538_541dup (p.Thr181fs)
|
rs1792878019
|
|
NM_000466.3(PEX1):c.556G>T (p.Glu186Ter)
|
|
|
NM_000466.3(PEX1):c.568del (p.Ser190fs)
|
|
|
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)
|
rs1554375599
|
|
NM_000466.3(PEX1):c.56_57del (p.Val19fs)
|
|
|
NM_000466.3(PEX1):c.56_80del (p.Val19fs)
|
rs1793398751
|
|
NM_000466.3(PEX1):c.607G>T (p.Gly203Ter)
|
rs1472300213
|
|
NM_000466.3(PEX1):c.643_647del (p.Thr215fs)
|
rs786204544
|
|
NM_000466.3(PEX1):c.651dup (p.Leu218fs)
|
|
|
NM_000466.3(PEX1):c.657_660del (p.Ser220fs)
|
rs786205656
|
|
NM_000466.3(PEX1):c.786_787del (p.Glu262fs)
|
rs2116245705
|
|
NM_000466.3(PEX1):c.788_789del (p.Thr263fs)
|
rs61750404
|
|
NM_000466.3(PEX1):c.794G>A (p.Trp265Ter)
|
|
|
NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs)
|
rs1792860966
|
|
NM_000466.3(PEX1):c.821_824del (p.Lys274fs)
|
|
|
NM_000466.3(PEX1):c.831_834del (p.Ser278fs)
|
rs2116245323
|
|
NM_000466.3(PEX1):c.833C>G (p.Ser278Ter)
|
|
|
NM_000466.3(PEX1):c.877C>T (p.Gln293Ter)
|
|
|
NM_000466.3(PEX1):c.894del (p.Ile297_Tyr298insTer)
|
|
|
NM_000466.3(PEX1):c.8dup (p.Ser4fs)
|
|
|
NM_000466.3(PEX1):c.911_912del (p.Ser304fs)
|
rs786204638
|
|
NM_000466.3(PEX1):c.912dup (p.Val305fs)
|
|
|
NM_000466.3(PEX1):c.951G>A (p.Trp317Ter)
|
|
|
NM_000466.3(PEX1):c.955C>T (p.Gln319Ter)
|
rs2116244185
|
|
NM_000466.3(PEX1):c.995_996del (p.Tyr332fs)
|
|
|
NM_000492.3(CFTR):c.(1)_(4374+1_4375-1)del
|
|
|
NM_000492.3(CFTR):c.(1341+1_1342-1)_(4095+1_4096-1)dup
|
|
|
NM_000492.3(CFTR):c.(1392+1_1393-1)_(1584+1_1585-1)del
|
|
|
NM_000492.3(CFTR):c.(1584+1_1585-1)_(1679+1_1680-1)del
|
|
|
NM_000492.3(CFTR):c.(164+1_165-1)_(1584_+1_1585-1)del(2619+1_2620-1)_(2988+1_2989-1)del
|
|
|
NM_000492.3(CFTR):c.(1766+1_1767-1)_(2619+1_2620-1)del
|
|
|
NM_000492.3(CFTR):c.(2619+1_2620-1)_(3367+1_3368-1)del
|
|
|
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del
|
|
|
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)del
|
|
|
NM_000492.3(CFTR):c.(273+1_274-1)_(1679+1_1680-1)del
|
|
|
NM_000492.3(CFTR):c.(2908+1_2909-1)_(3367+1_3368-1)del
|
|
|
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3367+1_3368-1)del
|
|
|
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)del
|
|
|
NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
|
|
|
NM_000492.3(CFTR):c.(3367+1_3368-1)_(3468+1_3469-1)del
|
|
|
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del
|
|
|
NM_000492.3(CFTR):c.(3499+1_3500-1)_(6132)del
|
|
|
NM_000492.3(CFTR):c.(3873+1_3874-1)_(3963+1_3964-1)del
|
|
|
NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)del
|
|
|
NM_000492.3(CFTR):c.(405+1_406-1)_(6132)del
|
|
|
NM_000492.3(CFTR):c.(53+1_54-1)_(489+1_490-1)del
|
|
|
NM_000492.3(CFTR):c.(743+1_744-1)_(1584+1_1585-1)dup
|
|
|
NM_000492.3(CFTR):c.(?_1)_(53+1_54-1)del
|
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.13196C>T
|
rs1554398510
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs)
|
rs121908780
|
|
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)
|
rs746418935
|
|
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs)
|
rs1554391033
|
|
NM_000492.3(CFTR):c.2909_2924dup
|
|
|
NM_000492.3(CFTR):c.2909delG
|
rs397508458
|
|
NM_000492.3(CFTR):c.2989_3139del151
|
rs1562914028
|
|
NM_000492.3(CFTR):c.3468+2dup
|
rs1554392800
|
|
NM_000492.3(CFTR):c.3965_3969dup
|
rs1209386423
|
|
NM_000492.3(CFTR):c.54-5940_273+10250del
|
|
|
NM_000492.3(CFTR):c.54_164del111
|
rs1562882675
|
|
NM_000492.3(CFTR):c.744-?_1584+?dup
|
|
|
NM_000492.3(CFTR):c.[1075C>A;1079C>A]
|
|
|
NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]
|
|
|
NM_000492.3(CFTR):c.[1397C>G;3209G>A]
|
|
|
NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]
|
|
|
NM_000492.3(CFTR):c.[2735C>T;3731G>T]
|
|
|
NM_000492.3(CFTR):c.[350G>A;1210-12[5]]
|
|
|
NM_000492.3:c.(273+1_274-1)_(1584+1_1585-1)del
|
|
|
NM_000492.3:c.(?_-1)_(*1_?)del
|
|
|
NM_000492.3:c.1585-?_1766+?del
|
|
|
NM_000492.3:c.274-?_1584+?dup
|
|
|
NM_000492.3:c.2989-?_3367+?del
|
|
|
NM_000492.3:c.2989-?_3468+?del
|
|
|
NM_000492.3:c.54-5842_489+401del
|
|
|
NM_000492.3:c.54-?_164+?del
|
|
|
NM_000492.3:c.54_273del
|
|
|
NM_000492.3:c.743+416_1584+2988dup
|
|
|
NM_000492.3:c.870-?_1584+?del
|
|
|
NM_000492.4(CFTR):c.-34C>T
|
rs756314710
|
|
NM_000492.4(CFTR):c.-9_14del (p.Met1fs)
|
rs397508136
|
|
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.1008_1019dup (p.Phe337_Ile340dup)
|
rs397508140
|
|
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del)
|
rs397508141
|
|
NM_000492.4(CFTR):c.1012_1013del (p.Thr338fs)
|
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)
|
rs121908774
|
|
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)
|
rs397508146
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1057C>T (p.Gln353Ter)
|
rs397508148
|
|
NM_000492.4(CFTR):c.1068G>A (p.Trp356Ter)
|
rs397508150
|
|
NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys)
|
rs397508152
|
|
NM_000492.4(CFTR):c.1078del (p.Thr360fs)
|
|
|
NM_000492.4(CFTR):c.1080del (p.Trp361fs)
|
|
|
NM_000492.4(CFTR):c.1083del (p.Trp361fs)
|
rs387906375
|
|
NM_000492.4(CFTR):c.1084_1088dup (p.Ser364fs)
|
rs1562892359
|
|
NM_000492.4(CFTR):c.1093_1094del (p.Leu365fs)
|
rs387906365
|
|
NM_000492.4(CFTR):c.1115del (p.Gln372fs)
|
rs1562892387
|
|
NM_000492.4(CFTR):c.1116+1G>A
|
rs397508158
|
|
NM_000492.4(CFTR):c.1116+1G>C
|
rs397508158
|
|
NM_000492.4(CFTR):c.1116+1G>T
|
rs397508158
|
|
NM_000492.4(CFTR):c.1116+2T>A
|
|
|
NM_000492.4(CFTR):c.1116+2T>C
|
|
|
NM_000492.4(CFTR):c.1117-1G>A
|
rs797045160
|
|
NM_000492.4(CFTR):c.1117-5A>G
|
rs397508161
|
|
NM_000492.4(CFTR):c.1126C>T (p.Gln376Ter)
|
rs1562892823
|
|
NM_000492.4(CFTR):c.1130dup (p.Gln378fs)
|
rs397508163
|
|
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.1155T>A (p.Tyr385Ter)
|
|
|
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)
|
rs121908785
|
|
NM_000492.4(CFTR):c.1159_1160del (p.Leu387fs)
|
|
|
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)
|
rs397508168
|
|
NM_000492.4(CFTR):c.1162_1168del (p.Thr388fs)
|
rs397508169
|
|
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1177del (p.Val392_Val393insTer)
|
rs397508171
|
|
NM_000492.4(CFTR):c.1189del (p.Asn396_Val397insTer)
|
|
|
NM_000492.4(CFTR):c.1197del (p.Phe400fs)
|
rs1562892895
|
|
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)
|
rs397508173
|
|
NM_000492.4(CFTR):c.1202G>A (p.Trp401Ter)
|
rs397508174
|
|
NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter)
|
rs397508175
|
|
NM_000492.4(CFTR):c.1209+1G>A
|
rs397508176
|
|
NM_000492.4(CFTR):c.1209+1G>C
|
|
|
NM_000492.4(CFTR):c.1209+1G>T
|
rs397508176
|
|
NM_000492.4(CFTR):c.1209+2T>G
|
rs1584790302
|
|
NM_000492.4(CFTR):c.1209G>A (p.Glu403=)
|
rs397508177
|
|
NM_000492.4(CFTR):c.1209G>C (p.Glu403Asp)
|
rs397508177
|
|
NM_000492.4(CFTR):c.1210-11_1210-9delinsG
|
rs2115902456
|
|
NM_000492.4(CFTR):c.1210-11delinsGTG
|
rs1584793368
|
|
NM_000492.4(CFTR):c.1210-11delinsGTGTG
|
|
|
NM_000492.4(CFTR):c.1210-13_1210-8del
|
rs1399483116
|
|
NM_000492.4(CFTR):c.1210-15_1210-10del
|
rs2115902212
|
|
NM_000492.4(CFTR):c.1210-2A>C
|
rs397508179
|
|
NM_000492.4(CFTR):c.1210-9_1210-6del
|
rs1805177
|
|
NM_000492.4(CFTR):c.1211_1392+1del
|
rs1562894928
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)
|
rs766063304
|
|
NM_000492.4(CFTR):c.1221del (p.Glu407fs)
|
|
|
NM_000492.4(CFTR):c.1224_1227del (p.Phe409fs)
|
|
|
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs)
|
rs3034796
|
|
NM_000492.4(CFTR):c.1234del (p.Ala412fs)
|
rs397508181
|
|
NM_000492.4(CFTR):c.1235del (p.Ala412fs)
|
rs397508182
|
|
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter)
|
rs397508183
|
|
NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer)
|
rs397508184
|
|
NM_000492.4(CFTR):c.1248dup (p.Asn417Ter)
|
rs1584793451
|
|
NM_000492.4(CFTR):c.1261dup (p.Thr421fs)
|
rs2115903081
|
|
NM_000492.4(CFTR):c.1290del (p.Phe430fs)
|
|
|
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs)
|
rs397508186
|
|
NM_000492.4(CFTR):c.1319_1323del (p.Val440fs)
|
|
|
NM_000492.4(CFTR):c.131A>G (p.Asp44Gly)
|
rs1800074
|
|
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)
|
rs397508188
|
|
NM_000492.4(CFTR):c.1324A>T (p.Lys442Ter)
|
rs1584793546
|
|
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)
|
rs397508189
|
|
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs)
|
rs1562895066
|
|
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer)
|
rs397508190
|
|
NM_000492.4(CFTR):c.1334del (p.Asn445fs)
|
rs2115903565
|
|
NM_000492.4(CFTR):c.1340del (p.Lys447fs)
|
rs397508192
|
|
NM_000492.4(CFTR):c.1347_1350del (p.Arg450fs)
|
rs1562895104
|
|
NM_000492.4(CFTR):c.1358T>C (p.Leu453Ser)
|
rs1562895128
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs)
|
rs797045161
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
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.1392+1G>A
|
rs397508197
|
|
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn)
|
rs397508198
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter)
|
rs121908805
|
|
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)
|
rs397508204
|
|
NM_000492.4(CFTR):c.1418del (p.Gly473fs)
|
rs397508205
|
|
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)
|
rs756206533
|
|
NM_000492.4(CFTR):c.1420G>T (p.Glu474Ter)
|
rs756206533
|
|
NM_000492.4(CFTR):c.142_145del (p.Asn48fs)
|
|
|
NM_000492.4(CFTR):c.1435G>T (p.Glu479Ter)
|
rs397508207
|
|
NM_000492.4(CFTR):c.1446dup (p.Lys483Ter)
|
rs397508209
|
|
NM_000492.4(CFTR):c.1464_1476del (p.Cys491fs)
|
rs2115937867
|
|
NM_000492.4(CFTR):c.1465_1469del (p.Ser489fs)
|
rs2115937855
|
|
NM_000492.4(CFTR):c.1469del (p.Phe490fs)
|
rs775663783
|
|
NM_000492.4(CFTR):c.1471T>C (p.Cys491Arg)
|
rs397508213
|
|
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)
|
rs121908775
|
|
NM_000492.4(CFTR):c.147_150del (p.Ser50fs)
|
rs1562882755
|
|
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
|
|
|
NM_000492.4(CFTR):c.1486del (p.Trp496fs)
|
rs1584798316
|
|
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter)
|
rs397508216
|
|
NM_000492.4(CFTR):c.148T>C (p.Ser50Pro)
|
rs397508217
|
|
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala)
|
rs397508221
|
|
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter)
|
rs397508223
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser)
|
rs397508224
|
|
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)
|
rs1800092
|
|
NM_000492.4(CFTR):c.1530_1531del (p.Ser511fs)
|
rs1562898471
|
|
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.1543_1555del (p.Tyr515fs)
|
rs1301983423
|
|
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)
|
rs121908776
|
|
NM_000492.4(CFTR):c.154A>T (p.Lys52Ter)
|
|
|
NM_000492.4(CFTR):c.1551C>G (p.Tyr517Ter)
|
rs2115938731
|
|
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)
|
rs77646904
|
|
NM_000492.4(CFTR):c.156_163dup (p.Arg55fs)
|
|
|
NM_000492.4(CFTR):c.156del (p.Lys52fs)
|
rs1346705436
|
|
NM_000492.4(CFTR):c.156dup (p.Leu53fs)
|
|
|
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter)
|
rs397508227
|
|
NM_000492.4(CFTR):c.1573del (p.Gln525fs)
|
rs774433839
|
|
NM_000492.4(CFTR):c.1579_1584+11del
|
|
|
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.1585-8G>A
|
rs193922503
|
|
NM_000492.4(CFTR):c.1586_1679+1del
|
rs1562906265
|
|
NM_000492.4(CFTR):c.1592_1593delinsG (p.Ile530_Ser531insTer)
|
|
|
NM_000492.4(CFTR):c.15del (p.Leu6fs)
|
|
|
NM_000492.4(CFTR):c.1615del (p.Asn538_Ile539insTer)
|
|
|
NM_000492.4(CFTR):c.1616_1617dup (p.Val540Ter)
|
rs1584810167
|
|
NM_000492.4(CFTR):c.1625del (p.Gly542fs)
|
rs2116017718
|
|
NM_000492.4(CFTR):c.164+1G>A
|
rs397508243
|
|
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>C
|
rs121908800
|
|
NM_000492.4(CFTR):c.164+2dup
|
rs1554375870
|
|
NM_000492.4(CFTR):c.164+4dup
|
rs397508244
|
|
NM_000492.4(CFTR):c.1642_1643del (p.Leu548fs)
|
rs397508246
|
|
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)
|
rs121908757
|
|
NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile)
|
rs121908755
|
|
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg)
|
rs121909005
|
|
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter)
|
rs397508247
|
|
NM_000492.4(CFTR):c.165-1G>A
|
rs397508249
|
|
NM_000492.4(CFTR):c.165-2A>C
|
rs397508250
|
|
NM_000492.4(CFTR):c.165-2A>G
|
rs397508250
|
|
NM_000492.4(CFTR):c.165-2del
|
rs1798467599
|
|
NM_000492.4(CFTR):c.1650del (p.Gly551fs)
|
rs397508251
|
|
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)
|
rs121909013
|
|
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)
|
rs76554633
|
|
NM_000492.4(CFTR):c.1656del (p.Gln552fs)
|
rs397508253
|
|
NM_000492.4(CFTR):c.166G>T (p.Glu56Ter)
|
rs397508256
|
|
NM_000492.4(CFTR):c.1670del (p.Ser557fs)
|
rs397508257
|
|
NM_000492.4(CFTR):c.1674del (p.Ala559fs)
|
rs397508258
|
|
NM_000492.4(CFTR):c.1679+1G>A
|
rs397508263
|
|
NM_000492.4(CFTR):c.1679+1G>C
|
rs397508263
|
|
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.1680A>T (p.Arg560Ser)
|
|
|
NM_000492.4(CFTR):c.1687T>C (p.Tyr563His)
|
rs121909006
|
|
NM_000492.4(CFTR):c.1687T>G (p.Tyr563Asp)
|
rs121909006
|
|
NM_000492.4(CFTR):c.1689C>A (p.Tyr563Ter)
|
|
|
NM_000492.4(CFTR):c.168del (p.Glu56fs)
|
rs397508269
|
|
NM_000492.4(CFTR):c.1692del (p.Asp565fs)
|
rs193922505
|
|
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)
|
rs397508272
|
|
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)
|
rs397508273
|
|
NM_000492.4(CFTR):c.1703del (p.Leu568fs)
|
rs397508274
|
|
NM_000492.4(CFTR):c.1705T>C (p.Tyr569His)
|
rs397508276
|
|
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys)
|
rs397508277
|
|
NM_000492.4(CFTR):c.1707T>A (p.Tyr569Ter)
|
rs397508278
|
|
NM_000492.4(CFTR):c.1709T>A (p.Leu570Ter)
|
|
|
NM_000492.4(CFTR):c.1709del (p.Leu570fs)
|
|
|
NM_000492.4(CFTR):c.170G>A (p.Trp57Ter)
|
rs397508279
|
|
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.1720C>T (p.Pro574Ser)
|
rs397508283
|
|
NM_000492.4(CFTR):c.1733_1734del (p.Leu578fs)
|
rs1562907232
|
|
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)
|
rs397508288
|
|
NM_000492.4(CFTR):c.1738del (p.Val580fs)
|
rs397508289
|
|
NM_000492.4(CFTR):c.1742dup (p.Leu581fs)
|
rs397508290
|
|
NM_000492.4(CFTR):c.174_177del (p.Asp58fs)
|
rs397508295
|
|
NM_000492.4(CFTR):c.175dup (p.Arg59fs)
|
rs397508294
|
|
NM_000492.4(CFTR):c.1762G>T (p.Glu588Ter)
|
|
|
NM_000492.4(CFTR):c.1766+1G>C
|
rs121908748
|
|
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.1766+5G>A
|
rs121908796
|
|
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile)
|
rs397508300
|
|
NM_000492.4(CFTR):c.1767-683_2619+550delinsCTACATTTGTACTA
|
|
|
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro)
|
rs1554389245
|
|
NM_000492.4(CFTR):c.178G>A (p.Glu60Lys)
|
rs77284892
|
|
NM_000492.4(CFTR):c.1792A>T (p.Lys598Ter)
|
rs397508302
|
|
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs)
|
rs397508303
|
|
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)
|
rs397508306
|
|
NM_000492.4(CFTR):c.1807del (p.Val603fs)
|
|
|
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)
|
rs397508308
|
|
NM_000492.4(CFTR):c.1811del (p.Thr604fs)
|
|
|
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)
|
rs121908777
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1867dup (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.1882G>C (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1891dup (p.Ser631fs)
|
|
|
NM_000492.4(CFTR):c.1904del (p.Asn635fs)
|
rs1381239923
|
|
NM_000492.4(CFTR):c.1909C>T (p.Gln637Ter)
|
rs397508320
|
|
NM_000492.4(CFTR):c.1911del (p.Gln637fs)
|
rs1554389296
|
|
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs)
|
rs1584812217
|
|
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs)
|
rs121908779
|
|
NM_000492.4(CFTR):c.1924_1931del (p.Ser642fs)
|
|
|
NM_000492.4(CFTR):c.1936G>T (p.Gly646Ter)
|
rs1562907873
|
|
NM_000492.4(CFTR):c.1937del (p.Gly646fs)
|
|
|
NM_000492.4(CFTR):c.1943A>T (p.Asp648Val)
|
rs121909033
|
|
NM_000492.4(CFTR):c.1943del (p.Asp648fs)
|
rs1481564133
|
|
NM_000492.4(CFTR):c.1949del (p.Phe650fs)
|
|
|
NM_000492.4(CFTR):c.1966G>T (p.Glu656Ter)
|
rs397508323
|
|
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter)
|
rs1792036190
|
|
NM_000492.4(CFTR):c.1972dup (p.Arg658fs)
|
|
|
NM_000492.4(CFTR):c.1976del (p.Asn659fs)
|
rs121908809
|
|
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter)
|
rs1562907896
|
|
NM_000492.4(CFTR):c.1981del (p.Ile661fs)
|
rs397508324
|
|
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs)
|
rs397508325
|
|
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)
|
rs397508327
|
|
NM_000492.4(CFTR):c.19G>T (p.Glu7Ter)
|
rs121909045
|
|
NM_000492.4(CFTR):c.2012T>A (p.Leu671Ter)
|
rs2116031354
|
|
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)
|
rs121908812
|
|
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter)
|
rs397508331
|
|
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter)
|
rs397508333
|
|
NM_000492.4(CFTR):c.2044del (p.Thr682fs)
|
rs1554389346
|
|
NM_000492.4(CFTR):c.2044dup (p.Thr682fs)
|
rs1554389346
|
|
NM_000492.4(CFTR):c.2045del (p.Thr682fs)
|
rs1584812361
|
|
NM_000492.4(CFTR):c.2045dup (p.Gln685fs)
|
rs397508334
|
|
NM_000492.4(CFTR):c.2051_2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs)
|
rs121908799
|
|
NM_000492.4(CFTR):c.2051_2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2053C>T (p.Gln685Ter)
|
rs397508336
|
|
NM_000492.4(CFTR):c.2053dup (p.Gln685fs)
|
rs797045162
|
|
NM_000492.4(CFTR):c.2058_2061dup (p.Lys688delinsPheTer)
|
|
|
NM_000492.4(CFTR):c.2061_2062insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCTTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAAACAATCTTTT (p.Lys688delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuLeuThrSerTer)
|
|
|
NM_000492.4(CFTR):c.2062_2066delinsTTTTTGTTTG (p.Lys688fs)
|
|
|
NM_000492.4(CFTR):c.2065C>T (p.Gln689Ter)
|
rs1584812425
|
|
NM_000492.4(CFTR):c.2083dup (p.Glu695fs)
|
rs397508339
|
|
NM_000492.4(CFTR):c.2089del (p.Arg697fs)
|
rs397508341
|
|
NM_000492.4(CFTR):c.2089dup (p.Arg697fs)
|
rs397508341
|
|
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)
|
rs75115087
|
|
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter)
|
rs397508343
|
|
NM_000492.4(CFTR):c.2145_2146delinsGT (p.Lys716Ter)
|
rs397508344
|
|
NM_000492.4(CFTR):c.2146A>T (p.Lys716Ter)
|
rs121909023
|
|
NM_000492.4(CFTR):c.2156T>A (p.Leu719Ter)
|
rs397508345
|
|
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter)
|
rs397508346
|
|
NM_000492.4(CFTR):c.2161del (p.Gln720_Met721insTer)
|
|
|
NM_000492.4(CFTR):c.217del (p.Leu73fs)
|
rs397508348
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2203del (p.Arg735fs)
|
rs397508351
|
|
NM_000492.4(CFTR):c.2213T>G (p.Leu738Ter)
|
|
|
NM_000492.4(CFTR):c.2215del (p.Val739fs)
|
rs397508353
|
|
NM_000492.4(CFTR):c.2233G>T (p.Gly745Ter)
|
rs397508354
|
|
NM_000492.4(CFTR):c.2241_2248del (p.Ile748fs)
|
rs397508355
|
|
NM_000492.4(CFTR):c.2249_2256del (p.Pro750fs)
|
rs397508356
|
|
NM_000492.4(CFTR):c.2261del (p.Val754fs)
|
rs2116032687
|
|
NM_000492.4(CFTR):c.2291del (p.Arg764fs)
|
rs387906376
|
|
NM_000492.4(CFTR):c.2299C>T (p.Gln767Ter)
|
rs1584812646
|
|
NM_000492.4(CFTR):c.2301del (p.Gln767fs)
|
rs2116032944
|
|
NM_000492.4(CFTR):c.2324_2325del (p.His775fs)
|
rs397508364
|
|
NM_000492.4(CFTR):c.2327C>G (p.Ser776Ter)
|
rs397508365
|
|
NM_000492.4(CFTR):c.2335C>T (p.Gln779Ter)
|
rs2116033063
|
|
NM_000492.4(CFTR):c.2335del (p.Gln779fs)
|
|
|
NM_000492.4(CFTR):c.2337del (p.Gly780fs)
|
|
|
NM_000492.4(CFTR):c.233del (p.Phe78fs)
|
rs397508360
|
|
NM_000492.4(CFTR):c.233dup (p.Trp79fs)
|
rs397508360
|
|
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter)
|
rs397508368
|
|
NM_000492.4(CFTR):c.236G>A (p.Trp79Ter)
|
rs397508371
|
|
NM_000492.4(CFTR):c.2373del (p.Arg792fs)
|
rs1584812696
|
|
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
NM_000492.4(CFTR):c.2382_2383del (p.Ser795fs)
|
|
|
NM_000492.4(CFTR):c.2393dup (p.Gln799fs)
|
rs397508372
|
|
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs)
|
rs387906359
|
|
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter)
|
rs377447726
|
|
NM_000492.4(CFTR):c.2435dup (p.Leu812fs)
|
rs397508376
|
|
NM_000492.4(CFTR):c.2438del (p.Ser813fs)
|
|
|
NM_000492.4(CFTR):c.243del (p.Phe81fs)
|
rs1562884046
|
|
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter)
|
rs397508377
|
|
NM_000492.4(CFTR):c.2443G>T (p.Glu815Ter)
|
rs672601316
|
|
NM_000492.4(CFTR):c.2443del (p.Glu815fs)
|
rs1584812777
|
|
NM_000492.4(CFTR):c.2450del (p.Gly817fs)
|
rs1584812778
|
|
NM_000492.4(CFTR):c.2453del (p.Leu818fs)
|
rs397515498
|
|
NM_000492.4(CFTR):c.2463_2464del (p.Ser821fs)
|
rs797045156
|
|
NM_000492.4(CFTR):c.2472del (p.Asn825fs)
|
rs397508380
|
|
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs)
|
rs1554389486
|
|
NM_000492.4(CFTR):c.2476G>T (p.Glu826Ter)
|
rs397508381
|
|
NM_000492.4(CFTR):c.2479G>T (p.Glu827Ter)
|
rs121909018
|
|
NM_000492.4(CFTR):c.2486T>A (p.Leu829Ter)
|
|
|
NM_000492.4(CFTR):c.2488A>T (p.Lys830Ter)
|
rs397508382
|
|
NM_000492.4(CFTR):c.2490+1G>A
|
rs141158996
|
|
NM_000492.4(CFTR):c.2490+1G>T
|
rs141158996
|
|
NM_000492.4(CFTR):c.2492_2619+1del
|
rs1562908889
|
|
NM_000492.4(CFTR):c.2496C>A (p.Cys832Ter)
|
rs397508388
|
|
NM_000492.4(CFTR):c.2502del (p.Phe834fs)
|
rs397508389
|
|
NM_000492.4(CFTR):c.2502dup (p.Asp835Ter)
|
rs397508389
|
|
NM_000492.4(CFTR):c.2508del (p.Asp836fs)
|
rs397508391
|
|
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter)
|
rs267606722
|
|
NM_000492.4(CFTR):c.253G>T (p.Gly85Ter)
|
rs1584776437
|
|
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter)
|
rs397508394
|
|
NM_000492.4(CFTR):c.254G>T (p.Gly85Val)
|
rs75961395
|
|
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.2555del (p.Tyr852fs)
|
|
|
NM_000492.4(CFTR):c.2556T>G (p.Tyr852Ter)
|
rs1584813819
|
|
NM_000492.4(CFTR):c.2560dup (p.Thr854fs)
|
rs2116039575
|
|
NM_000492.4(CFTR):c.2573del (p.Ser858fs)
|
rs1562908997
|
|
NM_000492.4(CFTR):c.2583del (p.Phe861fs)
|
rs397508399
|
|
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs)
|
rs397508400
|
|
NM_000492.4(CFTR):c.2592_2593del (p.Ile864fs)
|
rs397508401
|
|
NM_000492.4(CFTR):c.25dup (p.Ala9fs)
|
rs1584764596
|
|
NM_000492.4(CFTR):c.2600T>A (p.Leu867Ter)
|
rs397508404
|
|
NM_000492.4(CFTR):c.2600T>G (p.Leu867Ter)
|
rs397508404
|
|
NM_000492.4(CFTR):c.2601dup (p.Val868fs)
|
rs397508405
|
|
NM_000492.4(CFTR):c.2605del (p.Ile869fs)
|
|
|
NM_000492.4(CFTR):c.2605dup (p.Ile869fs)
|
|
|
NM_000492.4(CFTR):c.2619+2T>C
|
|
|
NM_000492.4(CFTR):c.2620-2A>G
|
rs1554390859
|
|
NM_000492.4(CFTR):c.2620-674_3367+232del
|
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.2637_2644del (p.Val880fs)
|
|
|
NM_000492.4(CFTR):c.2639_2640dup (p.Leu881fs)
|
rs1584817344
|
|
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter)
|
rs397508412
|
|
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.2645G>A (p.Trp882Ter)
|
rs397508413
|
|
NM_000492.4(CFTR):c.264_268del (p.Leu88fs)
|
|
|
NM_000492.4(CFTR):c.2658-1G>C
|
rs397508416
|
|
NM_000492.4(CFTR):c.2658-1G>T
|
rs397508416
|
|
NM_000492.4(CFTR):c.2658-2A>G
|
rs1554390958
|
|
NM_000492.4(CFTR):c.2700T>A (p.Asn900Lys)
|
rs672601315
|
|
NM_000492.4(CFTR):c.2705del (p.Ser902fs)
|
|
|
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg)
|
rs397508422
|
|
NM_000492.4(CFTR):c.270del (p.Glu92fs)
|
|
|
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg)
|
rs121908750
|
|
NM_000492.4(CFTR):c.273+2T>C
|
|
|
NM_000492.4(CFTR):c.273+3A>C
|
rs74467662
|
|
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)
|
rs121909034
|
|
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter)
|
rs121908788
|
|
NM_000492.4(CFTR):c.2739T>G (p.Tyr913Ter)
|
|
|
NM_000492.4(CFTR):c.274-1G>C
|
rs121908792
|
|
NM_000492.4(CFTR):c.274-1G>T
|
rs121908792
|
|
NM_000492.4(CFTR):c.274-2A>C
|
rs397508426
|
|
NM_000492.4(CFTR):c.274-2A>G
|
rs397508426
|
|
NM_000492.4(CFTR):c.274-3397_489+710del
|
|
|
NM_000492.4(CFTR):c.274-5_274-2del
|
rs1584784850
|
|
NM_000492.4(CFTR):c.2742T>G (p.Tyr914Ter)
|
|
|
NM_000492.4(CFTR):c.2743_2745delinsA (p.Val915fs)
|
|
|
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)
|
rs121908751
|
|
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)
|
rs121908751
|
|
NM_000492.4(CFTR):c.2755del (p.Tyr919fs)
|
|
|
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter)
|
rs1408746819
|
|
NM_000492.4(CFTR):c.275_489+1del
|
rs1562889180
|
|
NM_000492.4(CFTR):c.275_579+1del
|
|
|
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs)
|
rs397508431
|
|
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)
|
rs397508435
|
|
NM_000492.4(CFTR):c.2812dup (p.Val938fs)
|
rs1562911661
|
|
NM_000492.4(CFTR):c.2816A>G (p.His939Arg)
|
rs397508440
|
|
NM_000492.4(CFTR):c.2818_2831del (p.Thr940fs)
|
|
|
NM_000492.4(CFTR):c.2818dup (p.Thr940fs)
|
|
|
NM_000492.4(CFTR):c.2822del (p.Leu941fs)
|
rs762844777
|
|
NM_000492.4(CFTR):c.2825del (p.Ile942fs)
|
rs397508441
|
|
NM_000492.4(CFTR):c.2845C>T (p.His949Tyr)
|
rs121909035
|
|
NM_000492.4(CFTR):c.2848del (p.His950fs)
|
rs2116062196
|
|
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile)
|
rs151048781
|
|
NM_000492.4(CFTR):c.2856G>T (p.Met952Ile)
|
|
|
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs)
|
rs397508445
|
|
NM_000492.4(CFTR):c.2872C>T (p.Gln958Ter)
|
rs2116062284
|
|
NM_000492.4(CFTR):c.2875del (p.Ala959fs)
|
rs397508447
|
|
NM_000492.4(CFTR):c.2879_2882del (p.Pro960fs)
|
rs1562911739
|
|
NM_000492.4(CFTR):c.2885C>A (p.Ser962Ter)
|
|
|
NM_000492.4(CFTR):c.2896del (p.Thr966fs)
|
rs397508451
|
|
NM_000492.4(CFTR):c.2908+1085_3367+260del
|
|
|
NM_000492.4(CFTR):c.2908+1G>A
|
rs1060503164
|
|
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg)
|
rs397508453
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.2909-1G>C
|
rs397508456
|
|
NM_000492.4(CFTR):c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
|
|
|
NM_000492.4(CFTR):c.2911_3367+2del
|
|
|
NM_000492.4(CFTR):c.2919_2920insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
|
|
|
NM_000492.4(CFTR):c.2924_2925del (p.Arg975fs)
|
rs1584819340
|
|
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)
|
rs193922514
|
|
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
|
|
|
NM_000492.4(CFTR):c.2956del (p.Leu986fs)
|
rs2116069671
|
|
NM_000492.4(CFTR):c.2958del (p.Leu987fs)
|
|
|
NM_000492.4(CFTR):c.2959_2960dup (p.Pro988fs)
|
rs2116069700
|
|
NM_000492.4(CFTR):c.296C>G (p.Pro99Arg)
|
|
|
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)
|
rs397508468
|
|
NM_000492.4(CFTR):c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
|
|
|
NM_000492.4(CFTR):c.2988+1G>T
|
rs75096551
|
|
NM_000492.4(CFTR):c.2988+2T>C
|
rs1792307406
|
|
NM_000492.4(CFTR):c.2989-1G>A
|
rs397508470
|
|
NM_000492.4(CFTR):c.2989-2A>G
|
rs193922515
|
|
NM_000492.4(CFTR):c.2989-313A>T
|
rs1584821306
|
|
NM_000492.4(CFTR):c.2989-908_3085delinsGACAG
|
|
|
NM_000492.4(CFTR):c.2989-977_3367+248del
|
|
|
NM_000492.4(CFTR):c.2994del (p.Leu998fs)
|
rs749963273
|
|
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)
|
rs397508472
|
|
NM_000492.4(CFTR):c.2998del (p.Ile1000fs)
|
rs397508475
|
|
NM_000492.4(CFTR):c.2T>A (p.Met1Lys)
|
rs397508476
|
|
NM_000492.4(CFTR):c.2T>G (p.Met1Arg)
|
rs397508476
|
|
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)
|
rs397508477
|
|
NM_000492.4(CFTR):c.300_301del (p.Leu101fs)
|
rs2116669950
|
|
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del)
|
rs1562914072
|
|
NM_000492.4(CFTR):c.3011del (p.Ala1004fs)
|
rs1562914082
|
|
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)
|
rs397508479
|
|
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs)
|
rs1792366769
|
|
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)
|
rs397508480
|
|
NM_000492.4(CFTR):c.3022del (p.Val1008fs)
|
rs397508482
|
|
NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter)
|
rs1562914107
|
|
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.303dup (p.Leu102fs)
|
rs397508486
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu)
|
rs1554392023
|
|
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.3068_3072del (p.Ile1023fs)
|
rs397508493
|
|
NM_000492.4(CFTR):c.307G>T (p.Gly103Ter)
|
rs1584784895
|
|
NM_000492.4(CFTR):c.308del (p.Gly103fs)
|
|
|
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)
|
rs397508496
|
|
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)
|
rs397508498
|
|
NM_000492.4(CFTR):c.310del (p.Arg104fs)
|
rs397508499
|
|
NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter)
|
rs1562914200
|
|
NM_000492.4(CFTR):c.3139+1G>A
|
rs397508503
|
|
NM_000492.4(CFTR):c.3139+1del
|
rs780546355
|
|
NM_000492.4(CFTR):c.313del (p.Ile105fs)
|
rs121908801
|
|
NM_000492.4(CFTR):c.3140-16T>A
|
|
|
NM_000492.4(CFTR):c.3141_3468+1del
|
|
|
NM_000492.4(CFTR):c.314T>A (p.Ile105Asn)
|
rs397508509
|
|
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)
|
rs397508510
|
|
NM_000492.4(CFTR):c.3161del (p.His1054fs)
|
rs387906377
|
|
NM_000492.4(CFTR):c.3180del (p.Gly1061fs)
|
|
|
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)
|
rs142394380
|
|
NM_000492.4(CFTR):c.3184_3188dup (p.Trp1063fs)
|
rs387906366
|
|
NM_000492.4(CFTR):c.3185_3191del (p.Leu1062fs)
|
rs2116084282
|
|
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter)
|
rs1562914641
|
|
NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter)
|
rs397508514
|
|
NM_000492.4(CFTR):c.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065fs)
|
rs1584822237
|
|
NM_000492.4(CFTR):c.3192_3276del (p.Leu1065fs)
|
|
|
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)
|
rs121909036
|
|
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.3199G>A (p.Ala1067Thr)
|
rs121909020
|
|
NM_000492.4(CFTR):c.319_326del (p.Ile106_Ala107insTer)
|
rs397508516
|
|
NM_000492.4(CFTR):c.3211C>T (p.Gln1071Ter)
|
rs397508517
|
|
NM_000492.4(CFTR):c.3212A>C (p.Gln1071Pro)
|
rs121909037
|
|
NM_000492.4(CFTR):c.3217dup (p.Tyr1073fs)
|
rs768963919
|
|
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs)
|
rs397508518
|
|
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs)
|
rs779177972
|
|
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.325_327delinsG (p.Tyr109fs)
|
rs121908798
|
|
NM_000492.4(CFTR):c.3263dup (p.Asn1088fs)
|
rs397508524
|
|
NM_000492.4(CFTR):c.3264del (p.Trp1089fs)
|
rs397508525
|
|
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter)
|
rs150020260
|
|
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)
|
rs121909031
|
|
NM_000492.4(CFTR):c.326_327del (p.Ser108_Tyr109insTer)
|
rs121908798
|
|
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter)
|
rs121908761
|
|
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)
|
rs397508528
|
|
NM_000492.4(CFTR):c.3281C>G (p.Ser1094Ter)
|
|
|
NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA
|
rs1554392248
|
|
NM_000492.4(CFTR):c.3287del (p.Leu1096fs)
|
rs397508529
|
|
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>A (p.Trp1098Ter)
|
rs397508532
|
|
NM_000492.4(CFTR):c.3293G>C (p.Trp1098Ser)
|
|
|
NM_000492.4(CFTR):c.3294G>A (p.Trp1098Ter)
|
rs397508533
|
|
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)
|
rs397508533
|
|
NM_000492.4(CFTR):c.3294del (p.Trp1098fs)
|
rs397508534
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg)
|
rs36210737
|
|
NM_000492.4(CFTR):c.3303_3304delinsAG (p.Met1101_Arg1102delinsIleGly)
|
|
|
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter)
|
rs397508536
|
|
NM_000492.4(CFTR):c.330C>G (p.Asp110Glu)
|
|
|
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter)
|
rs397508538
|
|
NM_000492.4(CFTR):c.3322_3323del (p.Val1108fs)
|
|
|
NM_000492.4(CFTR):c.3322del (p.Val1108fs)
|
rs2116085331
|
|
NM_000492.4(CFTR):c.3324del (p.Ile1109fs)
|
rs1554392282
|
|
NM_000492.4(CFTR):c.332del (p.Pro111fs)
|
rs2116670123
|
|
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs)
|
rs1562914838
|
|
NM_000492.4(CFTR):c.3351_3352del (p.Ser1118fs)
|
|
|
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)
|
rs146521846
|
|
NM_000492.4(CFTR):c.3367+1G>A
|
rs1470125842
|
|
NM_000492.4(CFTR):c.3367+2T>A
|
rs397508544
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3368-2A>T
|
rs755416052
|
|
NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter)
|
rs397508549
|
|
NM_000492.4(CFTR):c.3400_3401delinsGTA (p.Thr1134fs)
|
rs397508552
|
|
NM_000492.4(CFTR):c.3404T>A (p.Leu1135Ter)
|
rs1792456313
|
|
NM_000492.4(CFTR):c.3407_3422del (p.Ala1136fs)
|
|
|
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)
|
rs397508555
|
|
NM_000492.4(CFTR):c.3411_3414del (p.Met1137fs)
|
|
|
NM_000492.4(CFTR):c.3419_3421del (p.Met1140del)
|
rs397508557
|
|
NM_000492.4(CFTR):c.3421_3424dup (p.Thr1142fs)
|
rs397508559
|
|
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter)
|
rs397508560
|
|
NM_000492.4(CFTR):c.3434G>A (p.Trp1145Ter)
|
|
|
NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter)
|
rs397508561
|
|
NM_000492.4(CFTR):c.3468+2T>C
|
rs1584824301
|
|
NM_000492.4(CFTR):c.3468+5G>A
|
rs1554392801
|
|
NM_000492.4(CFTR):c.3468_3468+6delinsATAAAAAGCTTATAAAAAG
|
|
|
NM_000492.4(CFTR):c.3469-2880_3717+2150del
|
|
|
NM_000492.4(CFTR):c.3469-2A>G
|
rs397508570
|
|
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)
|
rs397508571
|
|
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro)
|
rs397508572
|
|
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)
|
rs397508573
|
|
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs)
|
rs397508575
|
|
NM_000492.4(CFTR):c.3492dup (p.Lys1165Ter)
|
rs387906379
|
|
NM_000492.4(CFTR):c.3495del (p.Lys1165fs)
|
rs1057516970
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3525_3537del (p.Thr1176fs)
|
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs)
|
rs387906378
|
|
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs)
|
rs121908782
|
|
NM_000492.4(CFTR):c.3539_3554del (p.Lys1180fs)
|
|
|
NM_000492.4(CFTR):c.3540del (p.Lys1180fs)
|
rs397508580
|
|
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter)
|
rs397508581
|
|
NM_000492.4(CFTR):c.3546del (p.Pro1181_Tyr1182insTer)
|
rs1792671655
|
|
NM_000492.4(CFTR):c.354dup (p.Ile119fs)
|
|
|
NM_000492.4(CFTR):c.3556C>T (p.Gln1186Ter)
|
rs397508582
|
|
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs)
|
rs1562919371
|
|
NM_000492.4(CFTR):c.3571dup (p.Met1191fs)
|
|
|
NM_000492.4(CFTR):c.3598_3599delinsG (p.Lys1200fs)
|
rs1584830149
|
|
NM_000492.4(CFTR):c.3599_3600delinsG (p.Lys1200fs)
|
rs1584830154
|
|
NM_000492.4(CFTR):c.3600del (p.Asp1201fs)
|
rs2116129596
|
|
NM_000492.4(CFTR):c.3605del (p.Asp1202fs)
|
rs397508587
|
|
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter)
|
rs121908764
|
|
NM_000492.4(CFTR):c.3617C>A (p.Ser1206Ter)
|
rs397508588
|
|
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)
|
rs397508588
|
|
NM_000492.4(CFTR):c.3618_3619del (p.Gly1208fs)
|
rs397508589
|
|
NM_000492.4(CFTR):c.3622_3623delinsT (p.Gly1208fs)
|
|
|
NM_000492.4(CFTR):c.3623del (p.Gly1208fs)
|
rs35396083
|
|
NM_000492.4(CFTR):c.3623dup (p.Gln1209fs)
|
|
|
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter)
|
rs79660178
|
|
NM_000492.4(CFTR):c.3691del (p.Ser1231fs)
|
rs77035409
|
|
NM_000492.4(CFTR):c.3697_3698del (p.Ser1233fs)
|
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
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.3718-1G>A
|
rs387906369
|
|
NM_000492.4(CFTR):c.3718-1G>C
|
|
|
NM_000492.4(CFTR):c.3718-3T>G
|
rs397508596
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3725del (p.Leu1242fs)
|
rs2116166673
|
|
NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter)
|
rs1562923164
|
|
NM_000492.4(CFTR):c.3730G>A (p.Gly1244Arg)
|
rs397508599
|
|
NM_000492.4(CFTR):c.3736del (p.Thr1246fs)
|
rs2116166758
|
|
NM_000492.4(CFTR):c.3739G>T (p.Gly1247Ter)
|
|
|
NM_000492.4(CFTR):c.3741_3745dup (p.Gly1249fs)
|
rs2116166806
|
|
NM_000492.4(CFTR):c.3743C>G (p.Ser1248Ter)
|
|
|
NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg)
|
rs397508602
|
|
NM_000492.4(CFTR):c.3745G>C (p.Gly1249Arg)
|
rs397508602
|
|
NM_000492.4(CFTR):c.3747del (p.Lys1250fs)
|
rs797045159
|
|
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter)
|
rs397508604
|
|
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)
|
rs121909041
|
|
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3767dup (p.Leu1258fs)
|
rs387906370
|
|
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs)
|
rs121908789
|
|
NM_000492.4(CFTR):c.3788del (p.Thr1263fs)
|
|
|
NM_000492.4(CFTR):c.3792del (p.Gly1265fs)
|
|
|
NM_000492.4(CFTR):c.3795del (p.Glu1266fs)
|
|
|
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter)
|
rs1584837090
|
|
NM_000492.4(CFTR):c.3806T>A (p.Ile1269Asn)
|
rs1562923253
|
|
NM_000492.4(CFTR):c.3816_3817del (p.Ser1273fs)
|
rs397508612
|
|
NM_000492.4(CFTR):c.3822G>A (p.Trp1274Ter)
|
rs397508613
|
|
NM_000492.4(CFTR):c.3829del (p.Ser1276_Ile1277insTer)
|
rs397508614
|
|
NM_000492.4(CFTR):c.3838C>T (p.Gln1280Ter)
|
rs1584837173
|
|
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)
|
rs397508615
|
|
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly)
|
rs397508616
|
|
NM_000492.4(CFTR):c.3848G>T (p.Arg1283Met)
|
rs77902683
|
|
NM_000492.4(CFTR):c.3857T>C (p.Phe1286Ser)
|
rs121909028
|
|
NM_000492.4(CFTR):c.3859G>T (p.Gly1287Ter)
|
rs1792936385
|
|
NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter)
|
rs397508620
|
|
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)
|
rs397508621
|
|
NM_000492.4(CFTR):c.3873+1G>A
|
rs143570767
|
|
NM_000492.4(CFTR):c.3873+2T>C
|
rs146795445
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.3883_3884insG (p.Ile1295fs)
|
rs1793108213
|
|
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs)
|
rs387906373
|
|
NM_000492.4(CFTR):c.3883del (p.Ile1295fs)
|
rs397508630
|
|
NM_000492.4(CFTR):c.3889del (p.Ser1297fs)
|
|
|
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)
|
rs121908808
|
|
NM_000492.4(CFTR):c.3891dup (p.Gly1298fs)
|
rs397508633
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3900dup (p.Arg1301Ter)
|
rs1554396393
|
|
NM_000492.4(CFTR):c.3907A>C (p.Asn1303His)
|
rs121909042
|
|
NM_000492.4(CFTR):c.3908del (p.Asn1303fs)
|
rs397508637
|
|
NM_000492.4(CFTR):c.3908dup (p.Asn1303fs)
|
rs397508637
|
|
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter)
|
rs193922732
|
|
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter)
|
rs397508645
|
|
NM_000492.4(CFTR):c.3930G>A (p.Trp1310Ter)
|
|
|
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter)
|
rs121909026
|
|
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs)
|
rs754392413
|
|
NM_000492.4(CFTR):c.3947G>A (p.Trp1316Ter)
|
rs121909010
|
|
NM_000492.4(CFTR):c.3963+1G>A
|
rs672601314
|
|
NM_000492.4(CFTR):c.3963+2T>A
|
rs397508650
|
|
NM_000492.4(CFTR):c.3964-3C>G
|
rs397508652
|
|
NM_000492.4(CFTR):c.3964-78_4242+577del
|
|
|
NM_000492.4(CFTR):c.3966_4242+2del
|
rs1562928854
|
|
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
NM_000492.4(CFTR):c.3972del (p.Arg1325fs)
|
rs1584848754
|
|
NM_000492.4(CFTR):c.3976del (p.Ser1326fs)
|
rs397508654
|
|
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter)
|
rs375661578
|
|
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)
|
rs1057516457
|
|
NM_000492.4(CFTR):c.3999del (p.Lys1334fs)
|
rs886042527
|
|
NM_000492.4(CFTR):c.3G>A (p.Met1Ile)
|
rs397508657
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.4028del (p.Gly1343fs)
|
rs397508661
|
|
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs)
|
rs1554397497
|
|
NM_000492.4(CFTR):c.4036_4042del (p.Leu1346fs)
|
rs397508662
|
|
NM_000492.4(CFTR):c.4036dup (p.Leu1346fs)
|
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
NM_000492.4(CFTR):c.4051A>T (p.Lys1351Ter)
|
rs397508666
|
|
NM_000492.4(CFTR):c.4052del (p.Lys1351fs)
|
|
|
NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter)
|
rs751098333
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4058del (p.Gln1352_Leu1353insTer)
|
rs1562928927
|
|
NM_000492.4(CFTR):c.4071_4073delinsAA (p.Arg1358fs)
|
rs397508667
|
|
NM_000492.4(CFTR):c.4071del (p.Arg1358fs)
|
rs1584848901
|
|
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs)
|
rs397508668
|
|
NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter)
|
rs397508669
|
|
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)
|
rs200955612
|
|
NM_000492.4(CFTR):c.409_412del (p.Leu137fs)
|
rs397508671
|
|
NM_000492.4(CFTR):c.409del (p.Leu137fs)
|
rs397508672
|
|
NM_000492.4(CFTR):c.40A>T (p.Lys14Ter)
|
rs397508673
|
|
NM_000492.4(CFTR):c.40_44del (p.Lys14fs)
|
|
|
NM_000492.4(CFTR):c.410_416del (p.Leu137fs)
|
rs1584785072
|
|
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)
|
rs397508675
|
|
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro)
|
rs397508678
|
|
NM_000492.4(CFTR):c.4127_4131del (p.Leu1376fs)
|
rs1554397527
|
|
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His)
|
rs150683293
|
|
NM_000492.4(CFTR):c.4136+1G>A
|
rs1562928997
|
|
NM_000492.4(CFTR):c.4136+5G>A
|
rs1584849005
|
|
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)
|
rs397508686
|
|
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter)
|
rs397508684
|
|
NM_000492.4(CFTR):c.4147dup (p.Ile1383fs)
|
rs397508685
|
|
NM_000492.4(CFTR):c.4168C>T (p.Gln1390Ter)
|
rs397508689
|
|
NM_000492.4(CFTR):c.416A>G (p.His139Arg)
|
rs76371115
|
|
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.4200_4201del (p.Cys1400_Glu1401delinsTer)
|
rs397508695
|
|
NM_000492.4(CFTR):c.4201G>T (p.Glu1401Ter)
|
rs397508696
|
|
NM_000492.4(CFTR):c.4225G>T (p.Glu1409Ter)
|
rs397508699
|
|
NM_000492.4(CFTR):c.4230C>A (p.Cys1410Ter)
|
|
|
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter)
|
rs397508701
|
|
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter)
|
rs397508702
|
|
NM_000492.4(CFTR):c.4242+1G>A
|
rs372227120
|
|
NM_000492.4(CFTR):c.4242+2T>C
|
rs193922526
|
|
NM_000492.4(CFTR):c.424del (p.Ile142fs)
|
rs387906363
|
|
NM_000492.4(CFTR):c.4251del (p.Glu1418fs)
|
rs397508706
|
|
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.4297G>T (p.Glu1433Ter)
|
rs750559671
|
|
NM_000492.4(CFTR):c.429del (p.Phe143fs)
|
rs387906364
|
|
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)
|
rs397508709
|
|
NM_000492.4(CFTR):c.4315C>T (p.Gln1439Ter)
|
|
|
NM_000492.4(CFTR):c.4325del (p.Ser1442fs)
|
|
|
NM_000492.4(CFTR):c.4329del (p.Ser1444fs)
|
rs1554397769
|
|
NM_000492.4(CFTR):c.433C>G (p.Leu145Val)
|
|
|
NM_000492.4(CFTR):c.433del (p.Leu145fs)
|
rs1562889382
|
|
NM_000492.4(CFTR):c.4340del (p.Val1447fs)
|
rs2116226496
|
|
NM_000492.4(CFTR):c.4387_4388del (p.Gln1463fs)
|
rs2116226651
|
|
NM_000492.4(CFTR):c.4392del (p.Ile1464fs)
|
rs1793395260
|
|
NM_000492.4(CFTR):c.43del (p.Leu15fs)
|
rs397508715
|
|
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter)
|
rs397508716
|
|
NM_000492.4(CFTR):c.442del (p.Ile148fs)
|
rs121908770
|
|
NM_000492.4(CFTR):c.445G>A (p.Gly149Arg)
|
rs397508718
|
|
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro)
|
rs1562876459
|
|
NM_000492.4(CFTR):c.451C>T (p.Gln151Ter)
|
rs397508720
|
|
NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
|
NM_000492.4(CFTR):c.459_476del (p.Ala155_Ile160del)
|
rs387906371
|
|
NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer)
|
rs1554379887
|
|
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)
|
rs397508725
|
|
NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp)
|
rs397508729
|
|
NM_000492.4(CFTR):c.483_484insCC (p.Lys162fs)
|
rs1584785196
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
NM_000492.4(CFTR):c.487A>G (p.Lys163Glu)
|
rs1798858347
|
|
NM_000492.4(CFTR):c.488del (p.Lys163fs)
|
rs1554379899
|
|
NM_000492.4(CFTR):c.489+1G>A
|
rs78756941
|
|
NM_000492.4(CFTR):c.489+2T>C
|
rs397508732
|
|
NM_000492.4(CFTR):c.489+2T>G
|
rs397508732
|
|
NM_000492.4(CFTR):c.490-1G>T
|
rs397508734
|
|
NM_000492.4(CFTR):c.490-2A>G
|
rs397508735
|
|
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)
|
rs397508736
|
|
NM_000492.4(CFTR):c.494del (p.Thr164_Leu165insTer)
|
rs397508737
|
|
NM_000492.4(CFTR):c.498del (p.Lys166fs)
|
|
|
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
|
|
|
NM_000492.4(CFTR):c.49_50dup (p.Trp19fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
NM_000492.4(CFTR):c.4del (p.Gln2fs)
|
rs1562876396
|
|
NM_000492.4(CFTR):c.503C>G (p.Ser168Ter)
|
rs869249241
|
|
NM_000492.4(CFTR):c.50del (p.Phe17fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.50dup (p.Ser18fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.51del (p.Phe17fs)
|
rs1317756653
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.53+1G>T
|
rs397508746
|
|
NM_000492.4(CFTR):c.53+2T>C
|
|
|
NM_000492.4(CFTR):c.531del (p.Ile177fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.531dup (p.Gly178fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.535C>T (p.Gln179Ter)
|
|
|
NM_000492.4(CFTR):c.54-1161_164+1603del
|
|
|
NM_000492.4(CFTR):c.54-1G>T
|
|
|
NM_000492.4(CFTR):c.54-4235_164+377dup
|
|
|
NM_000492.4(CFTR):c.54-5811_164+2186delinsGGGAATTCATTCTTGATTTGCCTCTCTGCTGCCTGTTGTTGGTGTAAACAAAATTCATTTCTTGTTCTTATTTGTGAAATTTTGGAACCAAATCTATTTTCAAATTAGAAATTGCTTGTGATAATGGTTTTGCAACTTAGACTGGATATGAGACGATGAGATATTAGTTCTTTCATTCCTTT
|
|
|
NM_000492.4(CFTR):c.543_546del (p.Leu183fs)
|
rs397508750
|
|
NM_000492.4(CFTR):c.544dup (p.Ser182fs)
|
rs1584786454
|
|
NM_000492.4(CFTR):c.551_555del (p.Leu184fs)
|
|
|
NM_000492.4(CFTR):c.558del (p.Asn186fs)
|
|
|
NM_000492.4(CFTR):c.560del (p.Asn187fs)
|
rs1562890223
|
|
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.579+1_579+2insACAT
|
rs2116675185
|
|
NM_000492.4(CFTR):c.57G>A (p.Trp19Ter)
|
rs397508762
|
|
NM_000492.4(CFTR):c.580-1G>T
|
rs121908793
|
|
NM_000492.4(CFTR):c.580-2A>C
|
rs193922730
|
|
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)
|
rs376008630
|
|
NM_000492.4(CFTR):c.580G>T (p.Gly194Ter)
|
rs376008630
|
|
NM_000492.4(CFTR):c.586dup (p.Ala196fs)
|
rs1584786892
|
|
NM_000492.4(CFTR):c.596A>G (p.His199Arg)
|
rs397508764
|
|
NM_000492.4(CFTR):c.601del (p.Val201fs)
|
rs397508767
|
|
NM_000492.4(CFTR):c.606G>A (p.Trp202Ter)
|
rs397508768
|
|
NM_000492.4(CFTR):c.613C>A (p.Pro205Thr)
|
rs121908803
|
|
NM_000492.4(CFTR):c.613_870-1547del
|
|
|
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter)
|
rs397508771
|
|
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter)
|
rs397508775
|
|
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
|
rs397508778
|
|
NM_000492.4(CFTR):c.668C>T (p.Ala223Val)
|
|
|
NM_000492.4(CFTR):c.671del (p.Phe224fs)
|
rs769693190
|
|
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter)
|
rs397508781
|
|
NM_000492.4(CFTR):c.680T>G (p.Leu227Arg)
|
rs397508782
|
|
NM_000492.4(CFTR):c.708del (p.Gln237fs)
|
rs1299250440
|
|
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu)
|
rs397508784
|
|
NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer)
|
rs1554380497
|
|
NM_000492.4(CFTR):c.71del (p.Ile23_Leu24insTer)
|
|
|
NM_000492.4(CFTR):c.723_743+1del
|
rs121908804
|
|
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs)
|
rs1057517342
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.743+1G>A
|
rs397508791
|
|
NM_000492.4(CFTR):c.743+1G>C
|
rs397508791
|
|
NM_000492.4(CFTR):c.744-14_744-3del
|
rs387906367
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
|
|
NM_000492.4(CFTR):c.755delinsGCTGGGAAGAT (p.Ala252fs)
|
rs1584787657
|
|
NM_000492.4(CFTR):c.761del (p.Lys254fs)
|
rs2116678523
|
|
NM_000492.4(CFTR):c.764del (p.Ile255fs)
|
|
|
NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)
|
|
|
NM_000492.4(CFTR):c.772del (p.Arg258fs)
|
|
|
NM_000492.4(CFTR):c.773del (p.Arg258fs)
|
rs397508794
|
|
NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)
|
|
|
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)
|
rs397508796
|
|
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter)
|
rs397508796
|
|
NM_000492.4(CFTR):c.803del (p.Asn268fs)
|
rs121908772
|
|
NM_000492.4(CFTR):c.805_806del (p.Ile269fs)
|
rs121908773
|
|
NM_000492.4(CFTR):c.808C>T (p.Gln270Ter)
|
rs1584787716
|
|
NM_000492.4(CFTR):c.810del (p.Gln270fs)
|
|
|
NM_000492.4(CFTR):c.811del (p.Ser271fs)
|
rs1554380789
|
|
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)
|
rs397508799
|
|
NM_000492.4(CFTR):c.830G>A (p.Trp277Ter)
|
rs672601317
|
|
NM_000492.4(CFTR):c.831G>A (p.Trp277Ter)
|
rs2116678722
|
|
NM_000492.4(CFTR):c.844G>T (p.Glu282Ter)
|
|
|
NM_000492.4(CFTR):c.850dup (p.Met284fs)
|
rs786204693
|
|
NM_000492.4(CFTR):c.860dup (p.Asn287fs)
|
rs387906380
|
|
NM_000492.4(CFTR):c.861_865del (p.Asn287fs)
|
rs397508805
|
|
NM_000492.4(CFTR):c.863T>G (p.Leu288Ter)
|
rs1584787782
|
|
NM_000492.4(CFTR):c.866_870del (p.Arg289fs)
|
rs1562891084
|
|
NM_000492.4(CFTR):c.869+1G>T
|
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.870-12T>A
|
|
|
NM_000492.4(CFTR):c.870-1G>C
|
rs1351058559
|
|
NM_000492.4(CFTR):c.874G>T (p.Glu292Ter)
|
rs397508811
|
|
NM_000492.4(CFTR):c.874_875del (p.Glu292fs)
|
rs1799022949
|
|
NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)
|
rs397508815
|
|
NM_000492.4(CFTR):c.892A>T (p.Lys298Ter)
|
rs1584789180
|
|
NM_000492.4(CFTR):c.89dup (p.Arg31fs)
|
rs2116635157
|
|
NM_000492.4(CFTR):c.902dup (p.Tyr301Ter)
|
|
|
NM_000492.4(CFTR):c.912C>G (p.Tyr304Ter)
|
rs397508816
|
|
NM_000492.4(CFTR):c.922_926del (p.Ser308fs)
|
rs2116683702
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000492.4(CFTR):c.930del (p.Phe311fs)
|
rs1584789226
|
|
NM_000492.4(CFTR):c.933C>A (p.Phe311Leu)
|
|
|
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu)
|
rs121909016
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|
NM_000492.4(CFTR):c.948dup (p.Val317fs)
|
|
|
NM_000492.4(CFTR):c.959T>A (p.Leu320Ter)
|
rs397508820
|
|
NM_000492.4(CFTR):c.959del (p.Leu320fs)
|
rs1584789267
|
|
NM_000492.4(CFTR):c.960dup (p.Ser321fs)
|
|
|
NM_000492.4(CFTR):c.972del (p.Tyr325fs)
|
|
|
NM_000492.4(CFTR):c.987del (p.Gly330fs)
|
rs397508824
|
|
NM_000492.4(CFTR):c.9del (p.Arg3fs)
|
|
|
NM_000492.4(CFTR):c.[1210-34TG[12];1210-9_1210-6del]
|
|
|
NM_000492.4(CFTR):c.[1523T>G;3752G>A]
|
|
|
NM_000492.4(CFTR):c.[3469-189_3717+3822del;3469-331_3469-295del]
|
|
|
NM_000492.4(CFTR):c.[3846G>A;3848G>T]
|
|
|
NM_000492.4(CFTR):c.[4C>T;7A>T]
|
|
|
NM_000492.4:c.(1766+1_1767-1)_(2619+1_2620-1)del
|
|
|
NM_000492.4:c.(2619+1_2620-1)_(3367+1_3368-1)del
|
|
|
NM_000492.4:c.(273+1_274-1)_(1584+1_1585-1)del
|
|
|
NM_000492.4:c.(273+1_274-1)_(1679+1_1680-1)del
|
|
|
NM_000492.4:c.(2908+1_2909-1)_(4242+1_4243-1)del
|
|
|
NM_000492.4:c.(2988+1_2989-1)_(3367+1_3368-1)del
|
|
|
NM_000492.4:c.(2988+1_2989-1)_(3468+1_3469-1)del
|
|
|
NM_000492.4:c.(3139+1_3140-1)_(3367+1_3368-1)del
|
|
|
NM_000492.4:c.(3468+1_3469-1)_(3717+1_3718-1)del
|
|
|
NM_000492.4:c.(3468+1_3469-1)_(3963+1_3964-1)del
|
|
|
NM_000492.4:c.(3873+1_3874-1)_(3963+1_3964-1)del
|
|
|
NM_000492.4:c.(3963+1_3964-1)_(*1_?)del
|
|
|
NM_000492.4:c.(4136+1_4137-1)_(4242+1_4243-1)del
|
|
|
NM_000492.4:c.(53+1_54-1)_(1209+1_1210+1)del
|
|
|
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)del
|
|
|
NM_000492.4:c.(743+1_744-1)_(1584+1_1585-1)dup
|
|
|
NM_000492.4:c.(?_-1)_(*1_?)del
|
|
|
NM_000492.4:c.53+9713_1392+2669del
|
|
|
NM_000506.3(F2):c.1027G>A (p.Glu343Lys)
|
rs121918483
|
|
NM_000506.3(F2):c.1139T>C (p.Met380Thr)
|
rs121918481
|
|
NM_000506.3(F2):c.1273C>T (p.Arg425Cys)
|
rs121918479
|
|
NM_000506.3(F2):c.1785C>G (p.Asp595Glu)
|
rs121918486
|
|
NM_000506.3(F2):c.1802G>T (p.Gly601Val)
|
rs121918480
|
|
NM_000506.3(F2):c.940C>T (p.Arg314Cys)
|
rs121918477
|
|
NM_000506.5(F2):c.1015C>T (p.Arg339Ter)
|
|
|
NM_000506.5(F2):c.1088G>A (p.Arg363His)
|
|
|
NM_000506.5(F2):c.1159C>T (p.Gln387Ter)
|
rs2064886777
|
|
NM_000506.5(F2):c.1274G>A (p.Arg425His)
|
rs121918485
|
|
NM_000506.5(F2):c.13C>T (p.Arg5Ter)
|
|
|
NM_000506.5(F2):c.1499G>A (p.Arg500Gln)
|
rs202003146
|
|
NM_000506.5(F2):c.1678C>T (p.Arg560Ter)
|
|
|
NM_000506.5(F2):c.1786C>T (p.Arg596Trp)
|
|
|
NM_000506.5(F2):c.1787G>A (p.Arg596Gln)
|
rs387907201
|
|
NM_000506.5(F2):c.349C>T (p.Arg117Ter)
|
|
|
NM_000506.5(F2):c.392dup (p.Trp132fs)
|
|
|
NM_000506.5(F2):c.462_463insT (p.Asn155Ter)
|
rs387906522
|
|
NM_000506.5(F2):c.923_926del (p.Asp308fs)
|
|
|
NM_000506.5(F2):c.954dup (p.Glu319Ter)
|
|
|
NM_000518.4(HBB):c.-137C>T
|
rs33941377
|
|
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)
|
rs33946267
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)
|
rs33960103
|
|
NM_000518.5(HBB):c.-137C>G
|
rs33941377
|
|
NM_000518.5(HBB):c.-78A>C
|
rs33931746
|
|
NM_000518.5(HBB):c.112del (p.Trp38fs)
|
rs63750532
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.130G>T (p.Glu44Ter)
|
rs33922842
|
|
NM_000518.5(HBB):c.135del (p.Phe46fs)
|
rs80356820
|
|
NM_000518.5(HBB):c.17_18del (p.Pro6fs)
|
rs34889882
|
|
NM_000518.5(HBB):c.184A>T (p.Lys62Ter)
|
rs33995148
|
|
NM_000518.5(HBB):c.203_204del (p.Val68fs)
|
rs34282684
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000518.5(HBB):c.2T>G (p.Met1Arg)
|
rs33941849
|
|
NM_000518.5(HBB):c.316-3C>A
|
rs33913413
|
|
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)
|
rs33946267
|
|
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)
|
rs63750783
|
|
NM_000518.5(HBB):c.85dup (p.Leu29fs)
|
rs35532010
|
|
NM_000518.5(HBB):c.92+1G>T
|
rs33971440
|
|
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln)
|
rs80356611
|
|
NM_000543.4(SMPD1):c.[1343A>G];[1426C>T]
|
|
|
NM_000543.5(SMPD1):c.1011_1012del (p.Asn337fs)
|
|
|
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter)
|
rs1470998208
|
|
NM_000543.5(SMPD1):c.1032T>G (p.Tyr344Ter)
|
rs2134013121
|
|
NM_000543.5(SMPD1):c.103_107del (p.Leu35fs)
|
|
|
NM_000543.5(SMPD1):c.1054del (p.Glu352fs)
|
rs1847952502
|
|
NM_000543.5(SMPD1):c.106dup (p.Val36fs)
|
rs1590735238
|
|
NM_000543.5(SMPD1):c.1071_1081del (p.Glu358fs)
|
rs2134013240
|
|
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp)
|
rs797044800
|
|
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs)
|
rs1590735307
|
|
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg)
|
rs2134013368
|
|
NM_000543.5(SMPD1):c.1091+1G>A
|
rs1847955457
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
NM_000543.5(SMPD1):c.1101del (p.Phe368fs)
|
rs1422720020
|
|
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs)
|
rs1422720020
|
|
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
|
|
|
NM_000543.5(SMPD1):c.1108dup (p.Ala370fs)
|
rs1590743683
|
|
NM_000543.5(SMPD1):c.110_116del (p.Leu37fs)
|
rs1847863441
|
|
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs)
|
rs786204514
|
|
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser)
|
rs1342372980
|
|
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
|
|
|
NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter)
|
rs1848015403
|
|
NM_000543.5(SMPD1):c.1141T>C (p.Ser381Pro)
|
|
|
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs)
|
rs1057516432
|
|
NM_000543.5(SMPD1):c.1151del (p.Met384fs)
|
rs2134017306
|
|
NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile)
|
rs120074121
|
|
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser)
|
rs120074123
|
|
NM_000543.5(SMPD1):c.1168G>T (p.Glu390Ter)
|
|
|
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His)
|
rs2134017443
|
|
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)
|
rs120074125
|
|
NM_000543.5(SMPD1):c.1179G>A (p.Trp393Ter)
|
|
|
NM_000543.5(SMPD1):c.1216C>T (p.Gln406Ter)
|
rs2134017711
|
|
NM_000543.5(SMPD1):c.1221G>A (p.Trp407Ter)
|
|
|
NM_000543.5(SMPD1):c.1222_1225dup (p.Val409fs)
|
|
|
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)
|
|
|
NM_000543.5(SMPD1):c.1271_1272del (p.Ile424fs)
|
|
|
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser)
|
rs1554935136
|
|
NM_000543.5(SMPD1):c.1296_1297del (p.His432fs)
|
rs1848042860
|
|
NM_000543.5(SMPD1):c.1304dup (p.Ser436fs)
|
|
|
NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter)
|
rs1848043657
|
|
NM_000543.5(SMPD1):c.1312dup (p.Ser438fs)
|
|
|
NM_000543.5(SMPD1):c.1314C>A (p.Ser438Arg)
|
rs267607073
|
|
NM_000543.5(SMPD1):c.1316G>A (p.Trp439Ter)
|
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
NM_000543.5(SMPD1):c.1331T>A (p.Ile444Asn)
|
|
|
NM_000543.5(SMPD1):c.1345_1348dup (p.Asn450fs)
|
|
|
NM_000543.5(SMPD1):c.1354dup (p.Leu452fs)
|
|
|
NM_000543.5(SMPD1):c.1363C>T (p.Gln455Ter)
|
rs2134021058
|
|
NM_000543.5(SMPD1):c.1380del (p.His461fs)
|
rs1848061158
|
|
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs)
|
rs748411156
|
|
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser)
|
rs1319643225
|
|
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser)
|
rs267607074
|
|
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs)
|
rs398123476
|
|
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)
|
rs267607075
|
|
NM_000543.5(SMPD1):c.1451C>T (p.Ala484Val)
|
|
|
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)
|
rs281860665
|
|
NM_000543.5(SMPD1):c.1486+1G>T
|
|
|
NM_000543.5(SMPD1):c.1487-4_1499del
|
|
|
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)
|
rs281860676
|
|
NM_000543.5(SMPD1):c.1491_1503del (p.Gly496_Tyr497insTer)
|
rs875989834
|
|
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)
|
rs120074117
|
|
NM_000543.5(SMPD1):c.1497_1498inv (p.Tyr500His)
|
|
|
NM_000543.5(SMPD1):c.1498T>A (p.Tyr500Asn)
|
rs771336819
|
|
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.1547A>G (p.His516Arg)
|
rs754979734
|
|
NM_000543.5(SMPD1):c.1557C>A (p.Tyr519Ter)
|
|
|
NM_000543.5(SMPD1):c.1565A>G (p.Asn522Ser)
|
|
|
NM_000543.5(SMPD1):c.156dup (p.Arg53fs)
|
|
|
NM_000543.5(SMPD1):c.1576del (p.Ala526fs)
|
rs2134023240
|
|
NM_000543.5(SMPD1):c.1583_1584del (p.Ile528fs)
|
rs1848086376
|
|
NM_000543.5(SMPD1):c.1589del (p.Gly530fs)
|
|
|
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln)
|
rs199915216
|
|
NM_000543.5(SMPD1):c.1605G>A (p.Trp535Ter)
|
|
|
NM_000543.5(SMPD1):c.1606C>T (p.Gln536Ter)
|
rs1848088118
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.1630del (p.Thr544fs)
|
rs770962157
|
|
NM_000543.5(SMPD1):c.1643_1644insA (p.Asn549fs)
|
rs2134023663
|
|
NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro)
|
rs875989836
|
|
NM_000543.5(SMPD1):c.1676T>A (p.Val559Glu)
|
|
|
NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter)
|
rs2134006149
|
|
NM_000543.5(SMPD1):c.1699C>T (p.Gln567Ter)
|
rs943865463
|
|
NM_000543.5(SMPD1):c.175del (p.Ala59fs)
|
rs2134006179
|
|
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.1792C>T (p.Gln598Ter)
|
|
|
NM_000543.5(SMPD1):c.1817del (p.Pro606fs)
|
rs1554935746
|
|
NM_000543.5(SMPD1):c.1822_1825dup (p.Cys609fs)
|
|
|
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
|
rs120074118
|
|
NM_000543.5(SMPD1):c.193del (p.Ser65fs)
|
rs1057517098
|
|
NM_000543.5(SMPD1):c.193dup (p.Ser65fs)
|
rs1057517098
|
|
NM_000543.5(SMPD1):c.199dup (p.Gln67fs)
|
rs1847871015
|
|
NM_000543.5(SMPD1):c.203_205delinsAGGGGAGA (p.Gly68fs)
|
rs1847871996
|
|
NM_000543.5(SMPD1):c.208_227del (p.Pro70fs)
|
rs2134006350
|
|
NM_000543.5(SMPD1):c.248del (p.Val83fs)
|
|
|
NM_000543.5(SMPD1):c.257G>A (p.Trp86Ter)
|
rs2134006592
|
|
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)
|
rs1205990349
|
|
NM_000543.5(SMPD1):c.301del (p.Ile101fs)
|
|
|
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)
|
rs751269562
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
NM_000543.5(SMPD1):c.358_370dup (p.Leu124fs)
|
|
|
NM_000543.5(SMPD1):c.39del (p.Arg14fs)
|
rs2134004594
|
|
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)
|
rs797044797
|
|
NM_000543.5(SMPD1):c.43del (p.Ser15fs)
|
rs2134004628
|
|
NM_000543.5(SMPD1):c.477_483dup (p.Leu162fs)
|
rs2134009391
|
|
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)
|
rs780134410
|
|
NM_000543.5(SMPD1):c.499del (p.Cys167fs)
|
rs1847910379
|
|
NM_000543.5(SMPD1):c.504dup (p.His169fs)
|
rs2134009550
|
|
NM_000543.5(SMPD1):c.505dup (p.His169fs)
|
rs781535659
|
|
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter)
|
rs1554934193
|
|
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)
|
rs786204733
|
|
NM_000543.5(SMPD1):c.521_522insT (p.Ser175fs)
|
rs875989833
|
|
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.564del (p.Lys189fs)
|
rs756366019
|
|
NM_000543.5(SMPD1):c.564dup (p.Lys189fs)
|
rs756366019
|
|
NM_000543.5(SMPD1):c.565_566insC (p.Lys189fs)
|
rs875989835
|
|
NM_000543.5(SMPD1):c.56del (p.Gln19fs)
|
rs1554933746
|
|
NM_000543.5(SMPD1):c.572del (p.Pro191fs)
|
rs1590738506
|
|
NM_000543.5(SMPD1):c.572dup (p.Pro191_Ser192insTer)
|
rs1590738506
|
|
NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs)
|
rs1847857299
|
|
NM_000543.5(SMPD1):c.580_587dup (p.Gly197fs)
|
rs2134010245
|
|
NM_000543.5(SMPD1):c.581del (p.Pro194fs)
|
rs748165078
|
|
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)
|
rs748165078
|
|
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)
|
rs797044798
|
|
NM_000543.5(SMPD1):c.597del (p.Val200fs)
|
|
|
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)
|
rs1554933751
|
|
NM_000543.5(SMPD1):c.625del (p.Leu209fs)
|
rs1847921591
|
|
NM_000543.5(SMPD1):c.632G>A (p.Trp211Ter)
|
rs1847921909
|
|
NM_000543.5(SMPD1):c.647T>G (p.Leu216Arg)
|
rs1590738910
|
|
NM_000543.5(SMPD1):c.668G>C (p.Cys223Ser)
|
rs2134010914
|
|
NM_000543.5(SMPD1):c.669_670del (p.Ala224fs)
|
|
|
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg)
|
rs1564923612
|
|
NM_000543.5(SMPD1):c.699_717dup (p.Arg240fs)
|
rs1847925196
|
|
NM_000543.5(SMPD1):c.69del (p.Thr24fs)
|
|
|
NM_000543.5(SMPD1):c.740del (p.Gly247fs)
|
|
|
NM_000543.5(SMPD1):c.742G>C (p.Glu248Gln)
|
rs200763423
|
|
NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter)
|
rs200763423
|
|
NM_000543.5(SMPD1):c.766_767del (p.Leu256fs)
|
|
|
NM_000543.5(SMPD1):c.766dup (p.Leu256fs)
|
rs1018556947
|
|
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
|
rs794727252
|
|
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter)
|
rs120074120
|
|
NM_000543.5(SMPD1):c.795del (p.Leu266fs)
|
rs875989832
|
|
NM_000543.5(SMPD1):c.7del (p.Arg3fs)
|
rs281860663
|
|
NM_000543.5(SMPD1):c.807del (p.Gly270fs)
|
|
|
NM_000543.5(SMPD1):c.820del (p.Met274fs)
|
rs2134011809
|
|
NM_000543.5(SMPD1):c.830G>A (p.Trp277Ter)
|
|
|
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala)
|
rs1847935299
|
|
NM_000543.5(SMPD1):c.842_849dup (p.His284fs)
|
rs281860677
|
|
NM_000543.5(SMPD1):c.84del (p.Gly29fs)
|
rs750157176
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
NM_000543.5(SMPD1):c.919A>T (p.Lys307Ter)
|
|
|
NM_000543.5(SMPD1):c.921del (p.Lys307fs)
|
|
|
NM_000543.5(SMPD1):c.933_936delinsGAC (p.Val312fs)
|
rs2134012543
|
|
NM_000543.5(SMPD1):c.945C>A (p.Tyr315Ter)
|
|
|
NM_000543.5(SMPD1):c.952G>A (p.Val318Met)
|
rs875989837
|
|
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.96G>A (p.Trp32Ter)
|
rs786204506
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|
NM_000543.5(SMPD1):c.996dup (p.Phe333fs)
|
rs387906289
|
|
NM_000553.4(WRN):c.[375A>T;403A>G]
|
|
|
NM_000553.6(WRN):c.1003G>T (p.Glu335Ter)
|
|
|
NM_000553.6(WRN):c.1009_1013del (p.Glu337fs)
|
rs2130118890
|
|
NM_000553.6(WRN):c.1012_1018del (p.Val338fs)
|
rs2130118911
|
|
NM_000553.6(WRN):c.1016_1017insTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACATGAAGTTTT (p.Leu339delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyPheThrValLeuAlaGlyMetValSerIleSerTer)
|
rs2130118800
|
|
NM_000553.6(WRN):c.1054dup (p.Asp352fs)
|
rs2130119420
|
|
NM_000553.6(WRN):c.1098dup (p.Val367fs)
|
|
|
NM_000553.6(WRN):c.109A>T (p.Lys37Ter)
|
|
|
NM_000553.6(WRN):c.1111G>T (p.Glu371Ter)
|
rs1563338837
|
|
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs)
|
rs1563338855
|
|
NM_000553.6(WRN):c.1134del (p.Glu379fs)
|
|
|
NM_000553.6(WRN):c.1146del (p.Lys382fs)
|
|
|
NM_000553.6(WRN):c.1157del (p.Asn386fs)
|
rs2130120515
|
|
NM_000553.6(WRN):c.1165del (p.Arg389fs)
|
rs878854131
|
|
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)
|
|
|
NM_000553.6(WRN):c.1210del (p.Ile404fs)
|
rs2130121219
|
|
NM_000553.6(WRN):c.1219C>T (p.Gln407Ter)
|
|
|
NM_000553.6(WRN):c.1225del (p.Ser409fs)
|
|
|
NM_000553.6(WRN):c.1228C>T (p.Gln410Ter)
|
rs1563339055
|
|
NM_000553.6(WRN):c.1229dup (p.Glu411fs)
|
rs1563339062
|
|
NM_000553.6(WRN):c.1231G>T (p.Glu411Ter)
|
rs2130121425
|
|
NM_000553.6(WRN):c.1252del (p.Ala418fs)
|
rs2130121624
|
|
NM_000553.6(WRN):c.1290_1293del (p.Asn430fs)
|
rs1389340786
|
|
NM_000553.6(WRN):c.1301del (p.Thr434fs)
|
rs2130133359
|
|
NM_000553.6(WRN):c.1320del (p.Ser440fs)
|
|
|
NM_000553.6(WRN):c.1321del (p.Asp441fs)
|
|
|
NM_000553.6(WRN):c.1371_1374del (p.Asn457fs)
|
rs2130140311
|
|
NM_000553.6(WRN):c.1390_1391del (p.Val464fs)
|
|
|
NM_000553.6(WRN):c.1426del (p.Lys477fs)
|
|
|
NM_000553.6(WRN):c.1442_1443insT (p.Leu482fs)
|
rs2130155211
|
|
NM_000553.6(WRN):c.1462G>T (p.Glu488Ter)
|
rs2130155645
|
|
NM_000553.6(WRN):c.1472dup (p.His491fs)
|
rs2130155924
|
|
NM_000553.6(WRN):c.1484T>G (p.Leu495Ter)
|
|
|
NM_000553.6(WRN):c.1486_1489del (p.Lys496fs)
|
|
|
NM_000553.6(WRN):c.1541del (p.Asn514fs)
|
|
|
NM_000553.6(WRN):c.1587G>A (p.Trp529Ter)
|
|
|
NM_000553.6(WRN):c.1593dup (p.Pro532fs)
|
|
|
NM_000553.6(WRN):c.15del (p.Lys5fs)
|
rs878854133
|
|
NM_000553.6(WRN):c.15dup (p.Leu6fs)
|
rs878854133
|
|
NM_000553.6(WRN):c.1628dup (p.Tyr543Ter)
|
|
|
NM_000553.6(WRN):c.1629C>G (p.Tyr543Ter)
|
rs2130164025
|
|
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer)
|
rs1585440064
|
|
NM_000553.6(WRN):c.1672_1673insGGAAT (p.His558fs)
|
|
|
NM_000553.6(WRN):c.1674_1677del (p.His558fs)
|
rs749616545
|
|
NM_000553.6(WRN):c.1692_1693del (p.Arg565_Asp566insTer)
|
|
|
NM_000553.6(WRN):c.1695del (p.Asp566fs)
|
rs2130171351
|
|
NM_000553.6(WRN):c.171C>A (p.Tyr57Ter)
|
rs373806031
|
|
NM_000553.6(WRN):c.171C>G (p.Tyr57Ter)
|
rs373806031
|
|
NM_000553.6(WRN):c.171del (p.Ser56_Tyr57insTer)
|
rs1812391312
|
|
NM_000553.6(WRN):c.1720G>A (p.Gly574Arg)
|
|
|
NM_000553.6(WRN):c.1726G>T (p.Gly576Ter)
|
rs1396973081
|
|
NM_000553.6(WRN):c.1730A>T (p.Lys577Met)
|
rs121908448
|
|
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)
|
rs757808169
|
|
NM_000553.6(WRN):c.1754del (p.Pro585fs)
|
|
|
NM_000553.6(WRN):c.1801_1802del (p.Leu601fs)
|
|
|
NM_000553.6(WRN):c.1828A>T (p.Lys610Ter)
|
rs1813725603
|
|
NM_000553.6(WRN):c.1862dup (p.Ala622fs)
|
rs2130178691
|
|
NM_000553.6(WRN):c.1867_1868del (p.Gln623fs)
|
|
|
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)
|
|
|
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter)
|
rs1585449207
|
|
NM_000553.6(WRN):c.1920C>G (p.Tyr640Ter)
|
rs765756226
|
|
NM_000553.6(WRN):c.1940del (p.Cys646_Ser647insTer)
|
|
|
NM_000553.6(WRN):c.1993dup (p.Ile665fs)
|
rs1814195192
|
|
NM_000553.6(WRN):c.2015_2016del (p.Cys672fs)
|
|
|
NM_000553.6(WRN):c.2023G>T (p.Glu675Ter)
|
|
|
NM_000553.6(WRN):c.2028G>A (p.Trp676Ter)
|
rs1585455586
|
|
NM_000553.6(WRN):c.2031del (p.His678fs)
|
rs2130229354
|
|
NM_000553.6(WRN):c.2068del (p.Ser689_Leu690insTer)
|
rs2130229956
|
|
NM_000553.6(WRN):c.2084_2085insCATTC (p.Met696fs)
|
|
|
NM_000553.6(WRN):c.2089-3024A>G
|
rs281865157
|
|
NM_000553.6(WRN):c.2103_2104del (p.Leu702fs)
|
rs1383589957
|
|
NM_000553.6(WRN):c.2106_2109dup (p.Ala704fs)
|
|
|
NM_000553.6(WRN):c.2106dup (p.Thr703fs)
|
rs2130282820
|
|
NM_000553.6(WRN):c.2107dup (p.Thr703fs)
|
rs1554526707
|
|
NM_000553.6(WRN):c.2119A>G (p.Ser707Gly)
|
rs761240520
|
|
NM_000553.6(WRN):c.214dup (p.Ser72fs)
|
|
|
NM_000553.6(WRN):c.2151C>A (p.Cys717Ter)
|
|
|
NM_000553.6(WRN):c.2153T>G (p.Leu718Ter)
|
|
|
NM_000553.6(WRN):c.2170C>T (p.Gln724Ter)
|
rs1563357741
|
|
NM_000553.6(WRN):c.2177_2178dup (p.Cys727fs)
|
rs2130283793
|
|
NM_000553.6(WRN):c.2198del (p.Pro733fs)
|
|
|
NM_000553.6(WRN):c.221C>G (p.Ser74Ter)
|
|
|
NM_000553.6(WRN):c.2227del (p.Thr743fs)
|
rs2130284286
|
|
NM_000553.6(WRN):c.2229_2230del (p.Gly744fs)
|
|
|
NM_000553.6(WRN):c.2232del (p.Asn745fs)
|
rs2130284409
|
|
NM_000553.6(WRN):c.2242C>T (p.Gln748Ter)
|
rs1801328287
|
|
NM_000553.6(WRN):c.2269del (p.Thr757fs)
|
|
|
NM_000553.6(WRN):c.229dup (p.Asp77fs)
|
rs747587698
|
|
NM_000553.6(WRN):c.22del (p.Thr8fs)
|
rs1812358625
|
|
NM_000553.6(WRN):c.2310C>A (p.Tyr770Ter)
|
|
|
NM_000553.6(WRN):c.2332C>T (p.Gln778Ter)
|
rs1554527775
|
|
NM_000553.6(WRN):c.2345del (p.Gly782fs)
|
rs1585478303
|
|
NM_000553.6(WRN):c.2359_2361delinsTT (p.Asn788fs)
|
rs1585478331
|
|
NM_000553.6(WRN):c.2359dup (p.Leu787fs)
|
rs1801522729
|
|
NM_000553.6(WRN):c.2377del (p.Thr793fs)
|
|
|
NM_000553.6(WRN):c.238G>T (p.Gly80Ter)
|
|
|
NM_000553.6(WRN):c.2390del (p.Gly797fs)
|
|
|
NM_000553.6(WRN):c.2427del (p.Arg809fs)
|
rs2130306151
|
|
NM_000553.6(WRN):c.2427dup (p.Phe810fs)
|
|
|
NM_000553.6(WRN):c.2432dup (p.Arg812fs)
|
|
|
NM_000553.6(WRN):c.2443del (p.Ile815fs)
|
|
|
NM_000553.6(WRN):c.2448+1G>A
|
rs2130306367
|
|
NM_000553.6(WRN):c.2488_2498del (p.Lys830fs)
|
|
|
NM_000553.6(WRN):c.2503C>T (p.Gln835Ter)
|
rs2130322156
|
|
NM_000553.6(WRN):c.2503del (p.Gln835fs)
|
rs748484883
|
|
NM_000553.6(WRN):c.2544T>A (p.Tyr848Ter)
|
rs1585483312
|
|
NM_000553.6(WRN):c.2546_2547dup (p.Gln850fs)
|
rs878854136
|
|
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter)
|
rs2130322576
|
|
NM_000553.6(WRN):c.254G>A (p.Trp85Ter)
|
rs2130032250
|
|
NM_000553.6(WRN):c.2555_2562del (p.Ile852fs)
|
|
|
NM_000553.6(WRN):c.255G>A (p.Trp85Ter)
|
rs2130032264
|
|
NM_000553.6(WRN):c.2581C>T (p.Gln861Ter)
|
|
|
NM_000553.6(WRN):c.2584del (p.Ser862fs)
|
rs1801678807
|
|
NM_000553.6(WRN):c.2594dup (p.His865fs)
|
|
|
NM_000553.6(WRN):c.2604G>A (p.Trp868Ter)
|
rs1554528411
|
|
NM_000553.6(WRN):c.2613dup (p.Asp872fs)
|
|
|
NM_000553.6(WRN):c.2630+1G>A
|
rs1279240593
|
|
NM_000553.6(WRN):c.2678T>G (p.Leu893Ter)
|
rs1801846606
|
|
NM_000553.6(WRN):c.272del (p.Arg91fs)
|
rs1812611533
|
|
NM_000553.6(WRN):c.2741del (p.Leu914fs)
|
rs2130344386
|
|
NM_000553.6(WRN):c.2772del (p.Ala925fs)
|
|
|
NM_000553.6(WRN):c.2820del (p.Arg940fs)
|
rs2130344836
|
|
NM_000553.6(WRN):c.2858_2859del (p.Glu953fs)
|
|
|
NM_000553.6(WRN):c.2884C>T (p.Gln962Ter)
|
rs1585502089
|
|
NM_000553.6(WRN):c.2886del (p.Ala963fs)
|
rs2130376964
|
|
NM_000553.6(WRN):c.2894dup (p.Leu966fs)
|
rs2130377037
|
|
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs)
|
rs1802222407
|
|
NM_000553.6(WRN):c.2974C>T (p.Gln992Ter)
|
rs1802623856
|
|
NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter)
|
rs1563376347
|
|
NM_000553.6(WRN):c.3003_3004del (p.His1001fs)
|
|
|
NM_000553.6(WRN):c.3008del (p.Leu1003fs)
|
|
|
NM_000553.6(WRN):c.3008dup (p.Leu1003fs)
|
rs1802626671
|
|
NM_000553.6(WRN):c.3020del (p.Gly1007fs)
|
|
|
NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs)
|
rs748860208
|
|
NM_000553.6(WRN):c.3037_3038del (p.Ser1013fs)
|
rs759972548
|
|
NM_000553.6(WRN):c.3041G>A (p.Trp1014Ter)
|
|
|
NM_000553.6(WRN):c.3044G>A (p.Trp1015Ter)
|
|
|
NM_000553.6(WRN):c.305T>A (p.Leu102Ter)
|
rs1812613241
|
|
NM_000553.6(WRN):c.3085del (p.Leu1028_Val1029insTer)
|
|
|
NM_000553.6(WRN):c.3102T>G (p.Tyr1034Ter)
|
rs1563376526
|
|
NM_000553.6(WRN):c.3123C>A (p.Cys1041Ter)
|
rs773664315
|
|
NM_000553.6(WRN):c.3139-1G>C
|
rs113993961
|
|
NM_000553.6(WRN):c.3150G>A (p.Trp1050Ter)
|
rs2130417119
|
|
NM_000553.6(WRN):c.3190C>T (p.Gln1064Ter)
|
|
|
NM_000553.6(WRN):c.3195del (p.Asn1066fs)
|
rs1802645000
|
|
NM_000553.6(WRN):c.31C>T (p.Gln11Ter)
|
rs2130000774
|
|
NM_000553.6(WRN):c.3233+2T>C
|
|
|
NM_000553.6(WRN):c.3238A>T (p.Lys1080Ter)
|
rs1288018118
|
|
NM_000553.6(WRN):c.3244_3245del (p.Val1082fs)
|
rs770947623
|
|
NM_000553.6(WRN):c.3244del (p.Val1082fs)
|
rs745905108
|
|
NM_000553.6(WRN):c.327T>A (p.Cys109Ter)
|
rs371538747
|
|
NM_000553.6(WRN):c.3288del (p.Glu1097fs)
|
rs2130422216
|
|
NM_000553.6(WRN):c.3308del (p.Lys1103fs)
|
rs1802694719
|
|
NM_000553.6(WRN):c.3310-1_3369dup
|
rs2130426690
|
|
NM_000553.6(WRN):c.3317dup (p.Leu1106fs)
|
|
|
NM_000553.6(WRN):c.3336T>G (p.Tyr1112Ter)
|
rs1802745073
|
|
NM_000553.6(WRN):c.3382del (p.Ser1128fs)
|
rs778872619
|
|
NM_000553.6(WRN):c.3382dup (p.Ser1128fs)
|
rs778872619
|
|
NM_000553.6(WRN):c.3384-1G>T
|
rs776963381
|
|
NM_000553.6(WRN):c.3384-2A>G
|
|
|
NM_000553.6(WRN):c.3394C>T (p.Gln1132Ter)
|
rs1585521874
|
|
NM_000553.6(WRN):c.3403del (p.Glu1135fs)
|
|
|
NM_000553.6(WRN):c.3408dup (p.Ala1137fs)
|
rs1284409960
|
|
NM_000553.6(WRN):c.3424C>T (p.Gln1142Ter)
|
rs1454512341
|
|
NM_000553.6(WRN):c.3442C>T (p.Gln1148Ter)
|
|
|
NM_000553.6(WRN):c.3451G>T (p.Glu1151Ter)
|
|
|
NM_000553.6(WRN):c.3455_3458dup (p.Gln1153fs)
|
|
|
NM_000553.6(WRN):c.3493C>T (p.Gln1165Ter)
|
rs121908447
|
|
NM_000553.6(WRN):c.3502dup (p.Ala1168fs)
|
|
|
NM_000553.6(WRN):c.3529_3530del (p.Ile1177fs)
|
|
|
NM_000553.6(WRN):c.356-2A>C
|
rs780068269
|
|
NM_000553.6(WRN):c.3572+2T>C
|
|
|
NM_000553.6(WRN):c.3573-1_3579dup
|
|
|
NM_000553.6(WRN):c.3590del (p.Asn1197fs)
|
rs281865160
|
|
NM_000553.6(WRN):c.360dup (p.Pro121fs)
|
|
|
NM_000553.6(WRN):c.3666del (p.Cys1223fs)
|
|
|
NM_000553.6(WRN):c.3676_3679del (p.Asn1226fs)
|
rs1803078438
|
|
NM_000553.6(WRN):c.3682del (p.Val1228fs)
|
rs1563382597
|
|
NM_000553.6(WRN):c.3685C>T (p.Gln1229Ter)
|
|
|
NM_000553.6(WRN):c.3686A>T (p.Gln1229Leu)
|
rs369158322
|
|
NM_000553.6(WRN):c.3688-2A>G
|
rs2130469632
|
|
NM_000553.6(WRN):c.3690_3693del
|
rs606231162
|
|
NM_000553.6(WRN):c.3711del (p.Lys1237fs)
|
rs1563385391
|
|
NM_000553.6(WRN):c.3726del (p.Lys1243fs)
|
rs2130469991
|
|
NM_000553.6(WRN):c.3766del (p.Ser1256fs)
|
|
|
NM_000553.6(WRN):c.3769C>T (p.Gln1257Ter)
|
rs2130470364
|
|
NM_000553.6(WRN):c.3769_3770del (p.Gln1257fs)
|
|
|
NM_000553.6(WRN):c.3785_3786del (p.Thr1262fs)
|
|
|
NM_000553.6(WRN):c.3851_3982+449del
|
rs2130480213
|
|
NM_000553.6(WRN):c.3852_3853del (p.Met1285fs)
|
rs1803426742
|
|
NM_000553.6(WRN):c.3897C>A (p.Cys1299Ter)
|
|
|
NM_000553.6(WRN):c.3915dup (p.Ala1306fs)
|
rs587776621
|
|
NM_000553.6(WRN):c.3937C>T (p.Gln1313Ter)
|
rs1585536813
|
|
NM_000553.6(WRN):c.3937del (p.Gln1313fs)
|
|
|
NM_000553.6(WRN):c.3972del (p.Val1325fs)
|
|
|
NM_000553.6(WRN):c.4041dup (p.Ile1348fs)
|
rs2130514507
|
|
NM_000553.6(WRN):c.4068dup (p.His1357fs)
|
|
|
NM_000553.6(WRN):c.4077dup (p.Asp1360Ter)
|
|
|
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)
|
|
|
NM_000553.6(WRN):c.434G>A (p.Trp145Ter)
|
|
|
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)
|
|
|
NM_000553.6(WRN):c.474dup (p.Val159fs)
|
|
|
NM_000553.6(WRN):c.480_484del (p.Glu160fs)
|
rs2130037261
|
|
NM_000553.6(WRN):c.487_488del (p.Asp163fs)
|
rs797045118
|
|
NM_000553.6(WRN):c.502_503del (p.Lys168fs)
|
rs776785728
|
|
NM_000553.6(WRN):c.509_510dup (p.Cys171fs)
|
rs1554519254
|
|
NM_000553.6(WRN):c.515_516del (p.Thr172fs)
|
rs1585411632
|
|
NM_000553.6(WRN):c.522_523dup (p.Trp175fs)
|
rs1361270203
|
|
NM_000553.6(WRN):c.525del (p.Thr174_Trp175insTer)
|
rs752830087
|
|
NM_000553.6(WRN):c.546del (p.Lys182fs)
|
|
|
NM_000553.6(WRN):c.554T>G (p.Leu185Ter)
|
rs1563331288
|
|
NM_000553.6(WRN):c.561A>G (p.Lys187=)
|
rs775802030
|
|
NM_000553.6(WRN):c.571A>T (p.Lys191Ter)
|
rs1812737120
|
|
NM_000553.6(WRN):c.583dup (p.Ile195fs)
|
|
|
NM_000553.6(WRN):c.600G>A (p.Trp200Ter)
|
rs2130050166
|
|
NM_000553.6(WRN):c.648dup (p.Ala217fs)
|
rs1812741645
|
|
NM_000553.6(WRN):c.655-1G>A
|
rs2130056280
|
|
NM_000553.6(WRN):c.669_693del (p.Ile223fs)
|
|
|
NM_000553.6(WRN):c.724+1G>A
|
rs1339616347
|
|
NM_000553.6(WRN):c.724+1G>T
|
rs1339616347
|
|
NM_000553.6(WRN):c.724G>T (p.Glu242Ter)
|
rs769959338
|
|
NM_000553.6(WRN):c.754A>T (p.Lys252Ter)
|
rs751986285
|
|
NM_000553.6(WRN):c.755_758del (p.Lys252fs)
|
rs1244318419
|
|
NM_000553.6(WRN):c.767C>G (p.Ser256Ter)
|
|
|
NM_000553.6(WRN):c.806del (p.Pro269fs)
|
|
|
NM_000553.6(WRN):c.810dup (p.Ala271fs)
|
rs1813089918
|
|
NM_000553.6(WRN):c.856A>T (p.Lys286Ter)
|
|
|
NM_000553.6(WRN):c.859del (p.Asp287fs)
|
rs1585427471
|
|
NM_000553.6(WRN):c.867_874del (p.Glu290fs)
|
rs752312589
|
|
NM_000553.6(WRN):c.886_890del (p.Arg296fs)
|
|
|
NM_000553.6(WRN):c.903dup (p.Ser302fs)
|
|
|
NM_000553.6(WRN):c.921_922del (p.Glu308fs)
|
rs746445847
|
|
NM_000553.6(WRN):c.928_929dup (p.Pro311fs)
|
rs2130117999
|
|
NM_000553.6(WRN):c.944T>G (p.Leu315Ter)
|
rs1813280584
|
|
NM_000553.6(WRN):c.945_949del (p.Leu315fs)
|
rs2130118163
|
|
NM_000553.6(WRN):c.979G>T (p.Gly327Ter)
|
rs1813283817
|
|
NM_000553.6(WRN):c.980_983dup (p.Gln329fs)
|
rs1585427710
|
|
NM_000553.6(WRN):c.985C>T (p.Gln329Ter)
|
rs1813285283
|
|
NM_000553.6(WRN):c.994C>T (p.Gln332Ter)
|
|
|
NM_000553.6(WRN):c.997_1000del (p.Ile333fs)
|
|
|
NM_000554.6(CRX):c.443del (p.Gly148fs)
|
rs1968165374
|
|
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)
|
rs1599991611
|
|
NM_000554.6(CRX):c.[101-1G>A];[122G>A]
|
|
|
NM_000557.5(GDF5):c.1133G>A (p.Arg378Gln)
|
rs121909350
|
|
NM_000557.5(GDF5):c.1306C>A (p.Pro436Thr)
|
rs121909351
|
|
NM_000557.5(GDF5):c.[1309_1311del;1315T>A1319A>T]
|
|
|
NM_000601.6(HGF):c.482+1986_482+1988del
|
rs1788701297
|
|
NM_000601.6(HGF):c.482+1991_482+2000del
|
|
|
NM_000601.6(HGF):c.495G>A (p.Ser165=)
|
rs137853235
|
|
NM_000754.4(COMT):c.575_576insT (p.Trp193fs)
|
|
|
NM_000760.4(CSF3R):c.1003del (p.Thr335fs)
|
|
|
NM_000760.4(CSF3R):c.1072-1G>A
|
|
|
NM_000760.4(CSF3R):c.1072-1G>C
|
rs992318824
|
|
NM_000760.4(CSF3R):c.1105C>T (p.Gln369Ter)
|
|
|
NM_000760.4(CSF3R):c.1216dup (p.Val406fs)
|
rs890101650
|
|
NM_000760.4(CSF3R):c.1233_1234dup (p.Asn412fs)
|
|
|
NM_000760.4(CSF3R):c.1245del (p.Thr416fs)
|
rs606231474
|
|
NM_000760.4(CSF3R):c.1404del (p.Ser469fs)
|
rs747437399
|
|
NM_000760.4(CSF3R):c.1488del (p.Gln498fs)
|
|
|
NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter)
|
rs1236469336
|
|
NM_000760.4(CSF3R):c.203_221del (p.Glu68fs)
|
rs757401069
|
|
NM_000760.4(CSF3R):c.218dup (p.Arg74fs)
|
rs765536522
|
|
NM_000760.4(CSF3R):c.296_299del (p.Leu99fs)
|
|
|
NM_000760.4(CSF3R):c.32G>A (p.Trp11Ter)
|
rs2124152665
|
|
NM_000760.4(CSF3R):c.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG (p.Pro215_Leu217delinsTer)
|
rs2124127693
|
|
NM_000760.4(CSF3R):c.690dup (p.Met231fs)
|
|
|
NM_000760.4(CSF3R):c.769C>T (p.Gln257Ter)
|
|
|
NM_000760.4(CSF3R):c.78C>A (p.Cys26Ter)
|
rs767458386
|
|
NM_000760.4(CSF3R):c.836G>A (p.Trp279Ter)
|
rs1650834725
|
|
NM_000760.4(CSF3R):c.843+2T>C
|
rs1650834071
|
|
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys)
|
rs606231473
|
|
NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer)
|
rs1570588220
|
|
NM_000760.4(CSF3R):c.948_963del (p.His317fs)
|
rs606231475
|
|
NM_000760.4(CSF3R):c.998-2A>T
|
rs879253750
|
|
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys)
|
rs374292194
|
|
NM_000782.5(CYP24A1):c.1426_1427del (p.Cys477fs)
|
rs876657376
|
|
NM_000782.5(CYP24A1):c.364G>T (p.Glu122Ter)
|
|
|
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del)
|
rs777676129
|
|
NM_000782.5(CYP24A1):c.451G>T (p.Glu151Ter)
|
rs387907323
|
|
NM_000782.5(CYP24A1):c.476G>A (p.Arg159Gln)
|
rs387907322
|
|
NM_000782.5(CYP24A1):c.62del (p.Pro21fs)
|
rs774432244
|
|
NM_000782.5(CYP24A1):c.641-1G>A
|
|
|
NM_000784.3(CYP27A1):c.[446+1G>T];[808C>T]
|
|
|
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)
|
rs1575206357
|
|
NM_000784.4(CYP27A1):c.1017+1del
|
rs1559392904
|
|
NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=)
|
rs200553205
|
|
NM_000784.4(CYP27A1):c.1037G>A (p.Trp346Ter)
|
|
|
NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly)
|
rs72551320
|
|
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)
|
rs1575206688
|
|
NM_000784.4(CYP27A1):c.1068_1072dup (p.Gln358fs)
|
|
|
NM_000784.4(CYP27A1):c.1087G>T (p.Glu363Ter)
|
rs72551321
|
|
NM_000784.4(CYP27A1):c.1099_1102dup (p.Val368fs)
|
|
|
NM_000784.4(CYP27A1):c.1116del (p.Gln373fs)
|
|
|
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
|
|
|
NM_000784.4(CYP27A1):c.1140del (p.Phe380fs)
|
|
|
NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)
|
|
|
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.1184+1G>C
|
rs587778777
|
|
NM_000784.4(CYP27A1):c.1185-1G>T
|
rs587778779
|
|
NM_000784.4(CYP27A1):c.1185-2A>G
|
rs1553616457
|
|
NM_000784.4(CYP27A1):c.1185-2A>T
|
rs1553616457
|
|
NM_000784.4(CYP27A1):c.1191C>A (p.Tyr397Ter)
|
rs2105981050
|
|
NM_000784.4(CYP27A1):c.1193del (p.Pro398fs)
|
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg)
|
rs587778780
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter)
|
rs587778782
|
|
NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp)
|
rs587778783
|
|
NM_000784.4(CYP27A1):c.1239dup (p.Asp414Ter)
|
rs2105981099
|
|
NM_000784.4(CYP27A1):c.1263+1G>T
|
|
|
NM_000784.4(CYP27A1):c.1264-1G>A
|
rs587778785
|
|
NM_000784.4(CYP27A1):c.1297dup (p.Arg433fs)
|
|
|
NM_000784.4(CYP27A1):c.1330_1333del (p.Phe444fs)
|
|
|
NM_000784.4(CYP27A1):c.1333C>T (p.Gln445Ter)
|
rs1325218192
|
|
NM_000784.4(CYP27A1):c.1339_1342dup (p.Arg448fs)
|
rs2105981231
|
|
NM_000784.4(CYP27A1):c.1374del (p.Arg459fs)
|
rs751969035
|
|
NM_000784.4(CYP27A1):c.1375del (p.Arg459fs)
|
|
|
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter)
|
rs771819245
|
|
NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser)
|
rs587778787
|
|
NM_000784.4(CYP27A1):c.1416_1423del (p.Val473fs)
|
|
|
NM_000784.4(CYP27A1):c.1434_1435delinsAA (p.Arg479Ser)
|
rs2105981299
|
|
NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
|
|
|
NM_000784.4(CYP27A1):c.1476+2T>A
|
|
|
NM_000784.4(CYP27A1):c.1476+2T>C
|
rs1165952837
|
|
NM_000784.4(CYP27A1):c.1477-2A>C
|
rs111570247
|
|
NM_000784.4(CYP27A1):c.1519del (p.Glu507fs)
|
rs2105981467
|
|
NM_000784.4(CYP27A1):c.238C>T (p.Gln80Ter)
|
|
|
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs)
|
rs1163340926
|
|
NM_000784.4(CYP27A1):c.252dup (p.Gln85fs)
|
|
|
NM_000784.4(CYP27A1):c.253C>T (p.Gln85Ter)
|
rs1333458369
|
|
NM_000784.4(CYP27A1):c.256-1G>T
|
rs886556800
|
|
NM_000784.4(CYP27A1):c.256-2A>G
|
rs1559391390
|
|
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)
|
rs1943689766
|
|
NM_000784.4(CYP27A1):c.303del (p.Pro102fs)
|
|
|
NM_000784.4(CYP27A1):c.305del (p.Pro102fs)
|
rs587778790
|
|
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)
|
rs1943690848
|
|
NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs)
|
rs587778794
|
|
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)
|
rs1559391480
|
|
NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter)
|
rs1160640803
|
|
NM_000784.4(CYP27A1):c.426del (p.Thr143fs)
|
rs2105978931
|
|
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg)
|
rs587778795
|
|
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu)
|
rs72551313
|
|
NM_000784.4(CYP27A1):c.446+1G>T
|
rs587778797
|
|
NM_000784.4(CYP27A1):c.45_46del (p.Ala16fs)
|
rs1413976755
|
|
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
|
|
|
NM_000784.4(CYP27A1):c.465C>A (p.Tyr155Ter)
|
|
|
NM_000784.4(CYP27A1):c.46dup (p.Ala16fs)
|
rs1413976755
|
|
NM_000784.4(CYP27A1):c.506_507delinsA (p.Ala169fs)
|
rs1559392331
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.536del (p.Asn179fs)
|
|
|
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
|
|
|
NM_000784.4(CYP27A1):c.555del (p.Phe185fs)
|
|
|
NM_000784.4(CYP27A1):c.571C>T (p.Gln191Ter)
|
|
|
NM_000784.4(CYP27A1):c.583G>T (p.Glu195Ter)
|
rs587778800
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs)
|
rs587778802
|
|
NM_000784.4(CYP27A1):c.639del (p.Leu214fs)
|
|
|
NM_000784.4(CYP27A1):c.643G>T (p.Glu215Ter)
|
rs761663976
|
|
NM_000784.4(CYP27A1):c.647-1G>A
|
|
|
NM_000784.4(CYP27A1):c.647-1G>T
|
rs587778804
|
|
NM_000784.4(CYP27A1):c.654del (p.Tyr219fs)
|
|
|
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)
|
rs755532803
|
|
NM_000784.4(CYP27A1):c.667G>T (p.Glu223Ter)
|
|
|
NM_000784.4(CYP27A1):c.67dup (p.His23fs)
|
rs1559384522
|
|
NM_000784.4(CYP27A1):c.689dup (p.Arg231fs)
|
|
|
NM_000784.4(CYP27A1):c.69_82del (p.His23fs)
|
rs1943398587
|
|
NM_000784.4(CYP27A1):c.702del (p.Glu235fs)
|
rs2105980153
|
|
NM_000784.4(CYP27A1):c.73del (p.Ala25fs)
|
rs587778807
|
|
NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter)
|
rs587778808
|
|
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs)
|
rs1559392634
|
|
NM_000784.4(CYP27A1):c.765_766del (p.Phe256fs)
|
rs2105980214
|
|
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter)
|
rs587778810
|
|
NM_000784.4(CYP27A1):c.79dup (p.Ala27fs)
|
|
|
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)
|
rs1943736070
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000784.4(CYP27A1):c.813C>G (p.Tyr271Ter)
|
rs532134925
|
|
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)
|
rs587778812
|
|
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
|
|
|
NM_000784.4(CYP27A1):c.844+1G>A
|
rs397515354
|
|
NM_000784.4(CYP27A1):c.844+1G>T
|
|
|
NM_000784.4(CYP27A1):c.845-1G>C
|
|
|
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter)
|
rs1057519469
|
|
NM_000784.4(CYP27A1):c.863del (p.Glu288fs)
|
rs587778815
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)
|
rs1943741125
|
|
NM_000827.4(GRIA1):c.1129C>T (p.Arg377Ter)
|
rs1173036683
|
|
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
|
|
|
NM_000859.3(HMGCR):c.1327C>T (p.Arg443Trp)
|
|
|
NM_000859.3(HMGCR):c.1328G>A (p.Arg443Gln)
|
|
|
NM_000859.3(HMGCR):c.1519TCT[1] (p.Ser508del)
|
|
|
NM_000859.3(HMGCR):c.1867G>A (p.Asp623Asn)
|
|
|
NM_000859.3(HMGCR):c.2375A>G (p.Tyr792Cys)
|
|
|
NM_000859.3(HMGCR):c.2465G>A (p.Gly822Asp)
|
|
|
NM_000859.3(HMGCR):c.365+4A>G
|
|
|
NM_000899.5(KITLG):c.200_202del (p.His67_Cys68delinsArg)
|
rs864309654
|
|
NM_000899.5(KITLG):c.286_303delinsT (p.Leu95_Ser96insTer)
|
rs864309653
|
|
NM_001001331.4(ATP2B2):c.1033C>T (p.Gln345Ter)
|
rs2061464108
|
|
NM_001001331.4(ATP2B2):c.941-1G>A
|
|
|
NM_001006657.2(WDR35):c.1210dup (p.Glu404fs)
|
rs1327489348
|
|
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)
|
rs1555453872
|
|
NM_001013693.3(LDLRAD2):c.643+518_*1484del
|
|
|
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg)
|
rs1567628757
|
|
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr)
|
rs1567626023
|
|
NM_001013838.3(CARMIL2):c.1574T>A (p.Leu525Gln)
|
rs1567629943
|
|
NM_001013838.3(CARMIL2):c.1784del (p.Lys595fs)
|
rs774594582
|
|
NM_001013838.3(CARMIL2):c.2536_2548del (p.Leu846fs)
|
rs1567632829
|
|
NM_001013838.3(CARMIL2):c.2557C>T (p.Gln853Ter)
|
rs1567632864
|
|
NM_001013838.3(CARMIL2):c.490dup (p.Ala164fs)
|
rs886041043
|
|
NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter)
|
rs80359864
|
|
NM_001017420.3(ESCO2):c.1597dup (p.Cys533fs)
|
rs80359867
|
|
NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly)
|
rs80359868
|
|
NM_001017420.3(ESCO2):c.166_170del (p.Val56fs)
|
rs750842366
|
|
NM_001017420.3(ESCO2):c.1673+1G>A
|
rs2128957692
|
|
NM_001017420.3(ESCO2):c.1674-2A>G
|
rs80359869
|
|
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs)
|
rs80359845
|
|
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs)
|
rs80359846
|
|
NM_001017420.3(ESCO2):c.416_430dup (p.Leu144Ter)
|
|
|
NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter)
|
rs80359850
|
|
NM_001017420.3(ESCO2):c.751dup (p.Glu251fs)
|
rs1554554098
|
|
NM_001017420.3(ESCO2):c.760del (p.Thr254fs)
|
rs80359852
|
|
NM_001017420.3(ESCO2):c.760dup (p.Thr254fs)
|
rs80359852
|
|
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs)
|
rs80359857
|
|
NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs)
|
rs797045565
|
|
NM_001017420.3(ESCO2):c.911dup (p.Asn304fs)
|
rs797045566
|
|
NM_001017420.3(ESCO2):c.955+2_955+5del
|
rs80359858
|
|
NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter)
|
|
|
NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter)
|
rs121918245
|
|
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs)
|
rs1576559094
|
|
NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter)
|
rs1948821736
|
|
NM_001023570.4(IQCB1):c.1314_1315delinsCT (p.Lys438_Lys439delinsAsnTer)
|
|
|
NM_001023570.4(IQCB1):c.1332G>A (p.Trp444Ter)
|
|
|
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)
|
rs866982675
|
|
NM_001023570.4(IQCB1):c.137T>A (p.Leu46Ter)
|
rs2108643223
|
|
NM_001023570.4(IQCB1):c.1471C>T (p.Gln491Ter)
|
|
|
NM_001023570.4(IQCB1):c.1496del (p.Leu499fs)
|
|
|
NM_001023570.4(IQCB1):c.1510C>T (p.Gln504Ter)
|
|
|
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)
|
rs398123538
|
|
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs)
|
rs587783011
|
|
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)
|
|
|
NM_001023570.4(IQCB1):c.178C>T (p.Gln60Ter)
|
rs776023179
|
|
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.264-2A>T
|
rs727503969
|
|
NM_001023570.4(IQCB1):c.273dup (p.Val92fs)
|
rs1201853761
|
|
NM_001023570.4(IQCB1):c.333del (p.Ala112fs)
|
rs786200929
|
|
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)
|
rs750962965
|
|
NM_001023570.4(IQCB1):c.445_448del (p.Leu149fs)
|
rs1156803164
|
|
NM_001023570.4(IQCB1):c.490del (p.Leu164fs)
|
rs2108591614
|
|
NM_001023570.4(IQCB1):c.493C>T (p.Gln165Ter)
|
|
|
NM_001023570.4(IQCB1):c.601A>T (p.Arg201Ter)
|
rs2108571563
|
|
NM_001023570.4(IQCB1):c.729_754del (p.Glu243fs)
|
rs773848660
|
|
NM_001023570.4(IQCB1):c.757del (p.Cys253fs)
|
rs1949313357
|
|
NM_001023570.4(IQCB1):c.758del (p.Cys253fs)
|
rs770441610
|
|
NM_001023570.4(IQCB1):c.759C>A (p.Cys253Ter)
|
|
|
NM_001023570.4(IQCB1):c.823dup (p.Arg275fs)
|
|
|
NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs)
|
rs1474058708
|
|
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.919_920insC (p.Gly307fs)
|
rs772827691
|
|
NM_001034852.3(SMOC1):c.367T>C (p.Ser123Pro)
|
rs1114167455
|
|
NM_001034852.3(SMOC1):c.378+1G>A
|
rs751356341
|
|
NM_001034852.3(SMOC1):c.378+1G>T
|
rs751356341
|
|
NM_001034852.3(SMOC1):c.482C>A (p.Ser161Ter)
|
rs1344296865
|
|
NM_001034852.3(SMOC1):c.664+1G>A
|
rs863223317
|
|
NM_001034852.3(SMOC1):c.709G>T (p.Glu237Ter)
|
rs1566709754
|
|
NM_001034852.3(SMOC1):c.718C>T (p.Gln240Ter)
|
rs376672665
|
|
NM_001034852.3(SMOC1):c.857G>A (p.Arg286His)
|
rs1365818420
|
|
NM_001037160.3(CYS1):c.318+5G>A
|
rs1201981092
|
|
NM_001038603.3(MARVELD2):c.1331+2T>C
|
rs772048719
|
|
NM_001038603.3(MARVELD2):c.1331+4_1331+7del
|
|
|
NM_001038603.3(MARVELD2):c.608dup (p.Leu203fs)
|
rs2150914115
|
|
NM_001038603.3(MARVELD2):c.666C>G (p.Tyr222Ter)
|
|
|
NM_001039.4(SCNN1G):c.1570-1G>A
|
rs1596779402
|
|
NM_001039.4(SCNN1G):c.1627del (p.Val543fs)
|
rs1596779433
|
|
NM_001039.4(SCNN1G):c.318-1G>A
|
rs1567262640
|
|
NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter)
|
rs1060499809
|
|
NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter)
|
rs118204027
|
|
NM_001039141.3(TRIOBP):c.1783C>T (p.Arg595Ter)
|
rs371412957
|
|
NM_001039141.3(TRIOBP):c.1861C>T (p.Arg621Ter)
|
|
|
NM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter)
|
|
|
NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg)
|
rs549095193
|
|
NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs)
|
rs1601632909
|
|
NM_001039141.3(TRIOBP):c.3214dup (p.Arg1072fs)
|
rs1485334519
|
|
NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs)
|
rs768625959
|
|
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs)
|
rs771696726
|
|
NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter)
|
rs1569042693
|
|
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs)
|
rs1569042782
|
|
NM_001039141.3(TRIOBP):c.3672_3673del (p.Arg1225fs)
|
rs2145835560
|
|
NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter)
|
rs1569046250
|
|
NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter)
|
rs118204028
|
|
NM_001039213.4(CEACAM16):c.37G>T (p.Ala13Ser)
|
rs1198256157
|
|
NM_001039213.4(CEACAM16):c.418A>C (p.Thr140Pro)
|
rs387907149
|
|
NM_001039213.4(CEACAM16):c.505G>A (p.Gly169Arg)
|
rs876661405
|
|
NM_001039213.4(CEACAM16):c.662-1G>C
|
rs1568528171
|
|
NM_001039550.2(DNAJB2):c.0_229+18del
|
|
|
NM_001039876.3(SYNE4):c.336C>A (p.Cys112Ter)
|
|
|
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)
|
rs118204034
|
|
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs)
|
rs1452984345
|
|
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter)
|
rs71647808
|
|
NM_001039958.2(MESP2):c.373C>G (p.Leu125Val)
|
rs71647806
|
|
NM_001039958.2(MESP2):c.49del (p.Ile17fs)
|
|
|
NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs)
|
rs113994158
|
|
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter)
|
rs118204035
|
|
NM_001039958.2(MESP2):c.83G>A (p.Trp28Ter)
|
|
|
NM_001040167.2(LFNG):c.216_217del (p.His72fs)
|
|
|
NM_001040167.2(LFNG):c.372del (p.Lys124fs)
|
rs1562551396
|
|
NM_001040167.2(LFNG):c.443dup (p.Thr149fs)
|
|
|
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu)
|
rs104894024
|
|
NM_001040167.2(LFNG):c.601G>A (p.Asp201Asn)
|
rs1211456697
|
|
NM_001040616.3(LINS1):c.1219_1222+1del
|
rs587777226
|
|
NM_001040616.3(LINS1):c.304del (p.Arg102fs)
|
rs760477654
|
|
NM_001040616.3(LINS1):c.985_988del (p.His328_His329insTer)
|
rs587777225
|
|
NM_001042472.3(ABHD12):c.1015C>T (p.Gln339Ter)
|
rs868586681
|
|
NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter)
|
rs267606624
|
|
NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln)
|
rs587777602
|
|
NM_001042472.3(ABHD12):c.211_223del (p.Arg71fs)
|
rs1555817157
|
|
NM_001042472.3(ABHD12):c.249C>G (p.Tyr83Ter)
|
rs1303044966
|
|
NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs)
|
rs1555813914
|
|
NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro)
|
rs587777604
|
|
NM_001042472.3(ABHD12):c.601dup (p.Val201fs)
|
|
|
NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter)
|
rs397704714
|
|
NM_001042517.1(DIAPH3):c.-172G>A
|
rs2138511736
|
|
NM_001042517.2(DIAPH3):c.2059del (p.Cys687fs)
|
rs2050261564
|
|
NM_001042545.2(LTBP4):c.1360del (p.Arg454fs)
|
rs1307726290
|
|
NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter)
|
rs1568406407
|
|
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter)
|
rs2146029786
|
|
NM_001042545.2(LTBP4):c.2481C>A (p.Cys827Ter)
|
rs267607228
|
|
NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs)
|
rs606231159
|
|
NM_001042545.2(LTBP4):c.4025dup (p.Tyr1343fs)
|
rs797044471
|
|
NM_001042545.2(LTBP4):c.4037dup (p.Arg1347fs)
|
rs606231161
|
|
NM_001042545.2(LTBP4):c.4039C>T (p.Arg1347Ter)
|
rs1382026467
|
|
NM_001042545.2(LTBP4):c.688G>T (p.Glu230Ter)
|
|
|
NM_001042545.2(LTBP4):c.701del (p.Pro234fs)
|
rs606231160
|
|
NM_001042545.2(LTBP4):c.730T>G (p.Cys244Gly)
|
rs267607229
|
|
NM_001042702.5(PJVK):c.113dup (p.Lys41fs)
|
rs1559365985
|
|
NM_001042702.5(PJVK):c.122del (p.Lys41fs)
|
rs1559366000
|
|
NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile)
|
rs118203988
|
|
NM_001042702.5(PJVK):c.726del (p.Phe242fs)
|
rs1559371613
|
|
NM_001042702.5(PJVK):c.880C>G (p.His294Asp)
|
rs2154126353
|
|
NM_001042702.5(PJVK):c.880del (p.His294fs)
|
rs2154126352
|
|
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del)
|
rs1559372512
|
|
NM_001042702.5(PJVK):c.950del (p.Phe317fs)
|
rs2154126361
|
|
NM_001042702.5(PJVK):c.988del (p.Val330fs)
|
rs1559372640
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001044385.3(TMEM237):c.128dup (p.Asn43fs)
|
|
|
NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter)
|
rs902145121
|
|
NM_001044385.3(TMEM237):c.275-2A>G
|
rs1574582671
|
|
NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter)
|
rs2105900861
|
|
NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter)
|
rs565778005
|
|
NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs)
|
|
|
NM_001044385.3(TMEM237):c.470_473dup (p.Thr159fs)
|
rs1957813141
|
|
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)
|
rs756970007
|
|
NM_001044385.3(TMEM237):c.606_609dup (p.Val204fs)
|
rs2105899220
|
|
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)
|
rs1574587553
|
|
NM_001044385.3(TMEM237):c.677+1G>T
|
rs793888505
|
|
NM_001044385.3(TMEM237):c.694dup (p.Ser232fs)
|
|
|
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
|
|
|
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)
|
rs387907131
|
|
NM_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
NM_001044385.3(TMEM237):c.869+1del
|
rs1311551510
|
|
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter)
|
rs768528861
|
|
NM_001048166.1(STIL):c.2393T>G (p.Leu798Trp)
|
rs398122976
|
|
NM_001048166.1(STIL):c.2829+1G>A
|
rs199422206
|
|
NM_001048166.1(STIL):c.3658del (p.Leu1219_Val1220insTer)
|
rs199422207
|
|
NM_001048166.1(STIL):c.3718C>T (p.Gln1240Ter)
|
rs121918609
|
|
NM_001048174.2(MUTYH):c.-6-1317_583del
|
|
|
NM_001048174.2(MUTYH):c.-6-95_42delinsC
|
rs1570465624
|
|
NM_001048174.2(MUTYH):c.1003_1006dup (p.Arg336fs)
|
|
|
NM_001048174.2(MUTYH):c.1017del (p.Arg340fs)
|
rs768130289
|
|
NM_001048174.2(MUTYH):c.1017dup (p.Arg340fs)
|
rs768130289
|
|
NM_001048174.2(MUTYH):c.102_103insGT (p.Ser35fs)
|
|
|
NM_001048174.2(MUTYH):c.1051C>T (p.Gln351Ter)
|
rs745910470
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)
|
rs1060501335
|
|
NM_001048174.2(MUTYH):c.1102+1G>T
|
rs587781337
|
|
NM_001048174.2(MUTYH):c.1102+2T>C
|
rs1644886403
|
|
NM_001048174.2(MUTYH):c.1112_1119del (p.Ala371fs)
|
|
|
NM_001048174.2(MUTYH):c.1121G>A (p.Trp374Ter)
|
|
|
NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs)
|
rs863224501
|
|
NM_001048174.2(MUTYH):c.1134del (p.Ser378_Val379insTer)
|
rs1570376147
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1160_1167dup (p.Lys390fs)
|
rs2149120039
|
|
NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter)
|
rs1437789978
|
|
NM_001048174.2(MUTYH):c.1182_1194del (p.Gln394fs)
|
|
|
NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter)
|
rs1060501321
|
|
NM_001048174.2(MUTYH):c.1185del (p.Glu395fs)
|
rs2149119265
|
|
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.1213del (p.Ala405fs)
|
rs1553125622
|
|
NM_001048174.2(MUTYH):c.1237del (p.Glu413fs)
|
rs1064795480
|
|
NM_001048174.2(MUTYH):c.1239+1G>A
|
|
|
NM_001048174.2(MUTYH):c.1269dup (p.Thr424fs)
|
|
|
NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs)
|
rs1553125243
|
|
NM_001048174.2(MUTYH):c.1275T>G (p.Tyr425Ter)
|
rs774968843
|
|
NM_001048174.2(MUTYH):c.1276C>T (p.Gln426Ter)
|
rs769152217
|
|
NM_001048174.2(MUTYH):c.127C>T (p.Gln43Ter)
|
|
|
NM_001048174.2(MUTYH):c.1305_1315dup (p.Thr439delinsArgProGlnTer)
|
|
|
NM_001048174.2(MUTYH):c.1312del (p.Pro437_Val438insTer)
|
|
|
NM_001048174.2(MUTYH):c.1341G>A (p.Trp447Ter)
|
rs2149112121
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)
|
rs376790729
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
NM_001048174.2(MUTYH):c.136del (p.Glu46fs)
|
rs2149175646
|
|
NM_001048174.2(MUTYH):c.1377del (p.Thr460fs)
|
rs146331482
|
|
NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter)
|
rs876660774
|
|
NM_001048174.2(MUTYH):c.1393-51_*2del
|
|
|
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)
|
rs587780088
|
|
NM_001048174.2(MUTYH):c.1425del (p.Thr476fs)
|
rs2149103038
|
|
NM_001048174.2(MUTYH):c.1426_1433delinsCCAACAGCCCA (p.Thr476_Met478delinsProThrAlaGln)
|
rs1557451154
|
|
NM_001048174.2(MUTYH):c.1434+1G>T
|
rs876659420
|
|
NM_001048174.2(MUTYH):c.1434+4A>G
|
rs876658323
|
|
NM_001048174.2(MUTYH):c.1435-2A>T
|
rs1553123105
|
|
NM_001048174.2(MUTYH):c.148C>T (p.Gln50Ter)
|
rs1645377813
|
|
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)
|
rs1645371113
|
|
NM_001048174.2(MUTYH):c.184del (p.Asp61_Val62insTer)
|
|
|
NM_001048174.2(MUTYH):c.192dup (p.Val65fs)
|
rs1570443585
|
|
NM_001048174.2(MUTYH):c.196dup (p.Thr66fs)
|
|
|
NM_001048174.2(MUTYH):c.1A>G (p.Met1Val)
|
rs1570467133
|
|
NM_001048174.2(MUTYH):c.210del (p.Ser71fs)
|
rs1557486313
|
|
NM_001048174.2(MUTYH):c.224G>A (p.Trp75Ter)
|
rs1553130185
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.228C>G (p.Tyr76Ter)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.230_242del (p.Asp77fs)
|
|
|
NM_001048174.2(MUTYH):c.249dup (p.Pro84fs)
|
rs878854189
|
|
NM_001048174.2(MUTYH):c.274del (p.Glu92fs)
|
rs786203213
|
|
NM_001048174.2(MUTYH):c.300T>A (p.Tyr100Ter)
|
rs774798236
|
|
NM_001048174.2(MUTYH):c.305-1G>A
|
rs372267274
|
|
NM_001048174.2(MUTYH):c.305-2A>G
|
rs863224452
|
|
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg)
|
rs730881832
|
|
NM_001048174.2(MUTYH):c.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.310del (p.Val104fs)
|
rs1553129676
|
|
NM_001048174.2(MUTYH):c.310dup (p.Val104fs)
|
rs1553129676
|
|
NM_001048174.2(MUTYH):c.317_318del (p.Glu106fs)
|
rs2149166157
|
|
NM_001048174.2(MUTYH):c.337del (p.Gln113fs)
|
rs1553129638
|
|
NM_001048174.2(MUTYH):c.359dup (p.Tyr120Ter)
|
|
|
NM_001048174.2(MUTYH):c.364dup (p.Thr122fs)
|
rs2149164805
|
|
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)
|
rs876660190
|
|
NM_001048174.2(MUTYH):c.371G>A (p.Trp124Ter)
|
rs1645261795
|
|
NM_001048174.2(MUTYH):c.376_377del (p.Gln126fs)
|
rs2149164388
|
|
NM_001048174.2(MUTYH):c.379-1G>C
|
rs1057520660
|
|
NM_001048174.2(MUTYH):c.379-2A>G
|
|
|
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)
|
rs876660787
|
|
NM_001048174.2(MUTYH):c.381del (p.Lys127fs)
|
rs1553129349
|
|
NM_001048174.2(MUTYH):c.384G>A (p.Trp128Ter)
|
rs2149161607
|
|
NM_001048174.2(MUTYH):c.409del (p.Ala137fs)
|
rs2149160869
|
|
NM_001048174.2(MUTYH):c.420+19_420+31del
|
rs781222233
|
|
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)
|
rs1553129062
|
|
NM_001048174.2(MUTYH):c.438G>A (p.Trp146Ter)
|
rs1570423722
|
|
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)
|
rs1057517457
|
|
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
|
rs143353451
|
|
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter)
|
rs1553128813
|
|
NM_001048174.2(MUTYH):c.497dup (p.Glu167fs)
|
|
|
NM_001048174.2(MUTYH):c.507del (p.Gly171fs)
|
rs2149152823
|
|
NM_001048174.2(MUTYH):c.527del (p.Thr176fs)
|
|
|
NM_001048174.2(MUTYH):c.541C>T (p.Gln181Ter)
|
rs2149151527
|
|
NM_001048174.2(MUTYH):c.549_576del (p.Leu184fs)
|
rs1570415363
|
|
NM_001048174.2(MUTYH):c.60del (p.Arg22fs)
|
rs1060501336
|
|
NM_001048174.2(MUTYH):c.619del (p.Val207fs)
|
|
|
NM_001048174.2(MUTYH):c.627del (p.Asn210fs)
|
rs1645098684
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
|
NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211fs)
|
rs1064793197
|
|
NM_001048174.2(MUTYH):c.640del (p.Val214fs)
|
|
|
NM_001048174.2(MUTYH):c.684_702dup (p.Trp235fs)
|
rs2149142768
|
|
NM_001048174.2(MUTYH):c.685del (p.Val230fs)
|
rs2149143211
|
|
NM_001048174.2(MUTYH):c.704G>A (p.Trp235Ter)
|
rs1570406302
|
|
NM_001048174.2(MUTYH):c.718C>T (p.Gln240Ter)
|
|
|
NM_001048174.2(MUTYH):c.727dup (p.Asp243fs)
|
|
|
NM_001048174.2(MUTYH):c.752A>G (p.Asn251Ser)
|
rs587778534
|
|
NM_001048174.2(MUTYH):c.764_772del (p.Met255_Gly258delinsArg)
|
rs1645038575
|
|
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)
|
rs761468459
|
|
NM_001048174.2(MUTYH):c.775dup (p.Ala259fs)
|
rs761468459
|
|
NM_001048174.2(MUTYH):c.779_780del (p.Thr260fs)
|
rs2149138656
|
|
NM_001048174.2(MUTYH):c.793C>T (p.Gln265Ter)
|
rs1553127659
|
|
NM_001048174.2(MUTYH):c.811C>T (p.Gln271Ter)
|
rs2149137694
|
|
NM_001048174.2(MUTYH):c.862C>T (p.Gln288Ter)
|
|
|
NM_001048174.2(MUTYH):c.879del (p.Ser294fs)
|
rs776362892
|
|
NM_001048174.2(MUTYH):c.887C>A (p.Ser296Ter)
|
rs558173961
|
|
NM_001048174.2(MUTYH):c.890_891insACTAAGCCTCAGGGAGCCTGTCGGG (p.Ser298fs)
|
|
|
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs)
|
rs1645561773
|
|
NM_001048174.2(MUTYH):c.914-1G>T
|
rs2149130255
|
|
NM_001048174.2(MUTYH):c.91C>T (p.Gln31Ter)
|
|
|
NM_001048174.2(MUTYH):c.924_925del (p.Gly309fs)
|
rs2149129901
|
|
NM_001048174.2(MUTYH):c.928del (p.Gln310fs)
|
|
|
NM_001048174.2(MUTYH):c.940_962del (p.Cys314fs)
|
rs1553126848
|
|
NM_001048174.2(MUTYH):c.955G>T (p.Glu319Ter)
|
|
|
NM_001048174.2(MUTYH):c.960del (p.Trp321fs)
|
|
|
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter)
|
rs1060501324
|
|
NM_001048174.2(MUTYH):c.993dup (p.Arg332fs)
|
|
|
NM_001048174.2(MUTYH):c.994del (p.Arg332fs)
|
rs1057517456
|
|
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
|
|
|
NM_001077365.2(POMT1):c.1038del (p.Phe347fs)
|
|
|
NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)
|
|
|
NM_001077365.2(POMT1):c.1091del (p.Leu364fs)
|
rs1947522752
|
|
NM_001077365.2(POMT1):c.1136_1137dup (p.Gln380fs)
|
|
|
NM_001077365.2(POMT1):c.1182dup (p.Val395fs)
|
|
|
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
|
|
|
NM_001077365.2(POMT1):c.1204dup (p.His402fs)
|
rs2131749139
|
|
NM_001077365.2(POMT1):c.1211dup (p.Glu405fs)
|
|
|
NM_001077365.2(POMT1):c.1235dup (p.Tyr412Ter)
|
|
|
NM_001077365.2(POMT1):c.1272+1G>A
|
rs2131751359
|
|
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
|
|
|
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)
|
rs1554780670
|
|
NM_001077365.2(POMT1):c.1364del (p.Lys455fs)
|
rs1472946513
|
|
NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter)
|
rs1191391104
|
|
NM_001077365.2(POMT1):c.1458G>A (p.Trp486Ter)
|
|
|
NM_001077365.2(POMT1):c.145del (p.Gln49fs)
|
|
|
NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter)
|
rs727502854
|
|
NM_001077365.2(POMT1):c.1524dup (p.Pro509fs)
|
|
|
NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT (p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer)
|
rs2131588122
|
|
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
|
|
|
NM_001077365.2(POMT1):c.1657del (p.Leu553fs)
|
rs794727190
|
|
NM_001077365.2(POMT1):c.1667del (p.Asn556fs)
|
|
|
NM_001077365.2(POMT1):c.1671del (p.Ile557fs)
|
rs1949626483
|
|
NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter)
|
rs1945766589
|
|
NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)
|
|
|
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)
|
rs750195040
|
|
NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs)
|
rs1315540509
|
|
NM_001077365.2(POMT1):c.1847_1865dup (p.Gly624fs)
|
|
|
NM_001077365.2(POMT1):c.1871_1872del (p.Gly624fs)
|
|
|
NM_001077365.2(POMT1):c.1917_1918del (p.Phe640fs)
|
|
|
NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)
|
|
|
NM_001077365.2(POMT1):c.1977del (p.Gln660fs)
|
|
|
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs)
|
rs1950265792
|
|
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)
|
rs138902646
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.2113_2119del (p.Ser705fs)
|
|
|
NM_001077365.2(POMT1):c.2141G>A (p.Trp714Ter)
|
|
|
NM_001077365.2(POMT1):c.245del (p.Phe82fs)
|
|
|
NM_001077365.2(POMT1):c.260dup (p.Leu87fs)
|
|
|
NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)
|
rs1945827957
|
|
NM_001077365.2(POMT1):c.270_280delAATTGGAGCAG (p.Gly92fs)
|
rs1222795311
|
|
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
|
|
|
NM_001077365.2(POMT1):c.385del (p.Ser129fs)
|
|
|
NM_001077365.2(POMT1):c.427+1G>A
|
rs760071332
|
|
NM_001077365.2(POMT1):c.427+1_427+2insA
|
rs900762841
|
|
NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)
|
|
|
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp)
|
rs397514501
|
|
NM_001077365.2(POMT1):c.432del (p.Asn144fs)
|
|
|
NM_001077365.2(POMT1):c.485del (p.Phe162fs)
|
rs1250351189
|
|
NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)
|
|
|
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)
|
rs772370177
|
|
NM_001077365.2(POMT1):c.559del (p.Trp187fs)
|
|
|
NM_001077365.2(POMT1):c.58dup (p.Val20fs)
|
rs2131554631
|
|
NM_001077365.2(POMT1):c.605+1G>C
|
rs766648827
|
|
NM_001077365.2(POMT1):c.606del (p.Ile203fs)
|
rs1588375386
|
|
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter)
|
rs747129906
|
|
NM_001077365.2(POMT1):c.699+24C>A
|
|
|
NM_001077365.2(POMT1):c.720del (p.Leu240fs)
|
|
|
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)
|
rs398124247
|
|
NM_001077365.2(POMT1):c.72del (p.Met25fs)
|
rs2131554917
|
|
NM_001077365.2(POMT1):c.789_790del (p.Leu263fs)
|
|
|
NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)
|
|
|
NM_001077365.2(POMT1):c.859_871del (p.Gly287fs)
|
rs2131672013
|
|
NM_001077365.2(POMT1):c.91del (p.Leu31fs)
|
|
|
NM_001077365.2(POMT1):c.93del (p.Trp32fs)
|
|
|
NM_001077365.2(POMT1):c.972_973insCT (p.Thr325fs)
|
|
|
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)
|
rs1588391612
|
|
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)
|
rs765230689
|
|
NM_001077418.3(TMEM231):c.-37G>A
|
|
|
NM_001077418.3(TMEM231):c.139+1del
|
rs2151711054
|
|
NM_001077418.3(TMEM231):c.139+39_139+40del
|
|
|
NM_001077418.3(TMEM231):c.140-3C>G
|
rs776673877
|
|
NM_001077418.3(TMEM231):c.140-8dup
|
|
|
NM_001077418.3(TMEM231):c.140-9_140-8del
|
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
NM_001077418.3(TMEM231):c.33C>A (p.Val11=)
|
|
|
NM_001077418.3(TMEM231):c.354dup (p.His119fs)
|
rs2151703115
|
|
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)
|
|
|
NM_001077418.3(TMEM231):c.438+1G>C
|
rs1415483600
|
|
NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr)
|
rs903354438
|
|
NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter)
|
rs2151702587
|
|
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)
|
|
|
NM_001077418.3(TMEM231):c.583-1_583delinsAG
|
rs2151700036
|
|
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC
|
|
|
NM_001077418.3(TMEM231):c.665-11T>C
|
rs886039807
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.1363del (p.Asp455fs)
|
rs587777814
|
|
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)
|
rs119463995
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)
|
rs119463996
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001079827.2(CLRN2):c.494C>A (p.Thr165Lys)
|
rs1711990645
|
|
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter)
|
rs749196764
|
|
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)
|
rs121908572
|
|
NM_001079866.2(BCS1L):c.320+1G>T
|
rs386833856
|
|
NM_001079866.2(BCS1L):c.399del (p.Glu133fs)
|
rs751484879
|
|
NM_001079866.2(BCS1L):c.821del (p.Pro274fs)
|
rs760559534
|
|
NM_001079866.2(BCS1L):c.901T>A (p.Tyr301Asn)
|
rs587777278
|
|
NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter)
|
rs1886637325
|
|
NM_001080414.4(CCDC88C):c.5058+1G>A
|
rs387907320
|
|
NM_001080414.4(CCDC88C):c.5265_5266del (p.Phe1755fs)
|
rs1567043467
|
|
NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter)
|
rs369384363
|
|
NM_001080449.3(DNA2):c.3114+6del
|
rs587777614
|
|
NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter)
|
rs267606855
|
|
NM_001080476.3(GRXCR1):c.385-2A>G
|
rs771844359
|
|
NM_001080476.3(GRXCR1):c.457T>G (p.Phe153Val)
|
|
|
NM_001080476.3(GRXCR1):c.550G>T (p.Glu184Ter)
|
rs2109775078
|
|
NM_001080510.5(METTL23):c.169_172del (p.His57fs)
|
rs587777644
|
|
NM_001080510.5(METTL23):c.178dup (p.Glu60fs)
|
rs1382444181
|
|
NM_001080510.5(METTL23):c.282_286del (p.Gln94fs)
|
rs587777645
|
|
NM_001080510.5(METTL23):c.322+1del
|
|
|
NM_001080510.5(METTL23):c.322+2dup
|
|
|
NM_001080510.5(METTL23):c.397C>T (p.Gln133Ter)
|
rs587777646
|
|
NM_001080516.2(GRXCR2):c.714dup (p.Gly239fs)
|
rs587777424
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)
|
rs386833777
|
|
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)
|
rs386833778
|
|
NM_001081.4(CUBN):c.3329+1G>T
|
rs1205598688
|
|
NM_001081.4(CUBN):c.3330-439C>G
|
rs386833782
|
|
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu)
|
rs2131820786
|
|
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)
|
rs770921101
|
|
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
|
|
|
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)
|
rs757649673
|
|
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)
|
rs1161400848
|
|
NM_001083961.2(WDR62):c.1175_1200dup (p.Leu401fs)
|
|
|
NM_001083961.2(WDR62):c.1234-1G>A
|
rs2145706114
|
|
NM_001083961.2(WDR62):c.1408C>T (p.Gln470Ter)
|
rs267607177
|
|
NM_001083961.2(WDR62):c.1576G>T (p.Glu526Ter)
|
rs147875659
|
|
NM_001083961.2(WDR62):c.1605dup (p.Glu536Ter)
|
|
|
NM_001083961.2(WDR62):c.1821dup (p.Arg608fs)
|
rs1213710245
|
|
NM_001083961.2(WDR62):c.193G>A (p.Val65Met)
|
rs387907084
|
|
NM_001083961.2(WDR62):c.198_201dup (p.Ile68fs)
|
rs2145516989
|
|
NM_001083961.2(WDR62):c.2084_2090dup (p.Ser698fs)
|
rs587784546
|
|
NM_001083961.2(WDR62):c.2086del (p.Ser696fs)
|
rs863223322
|
|
NM_001083961.2(WDR62):c.250dup (p.His84fs)
|
rs1234259290
|
|
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)
|
|
|
NM_001083961.2(WDR62):c.2655C>G (p.Tyr885Ter)
|
rs587784549
|
|
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs)
|
rs764201220
|
|
NM_001083961.2(WDR62):c.2788C>T (p.Gln930Ter)
|
rs1599841026
|
|
NM_001083961.2(WDR62):c.2984C>G (p.Ser995Ter)
|
|
|
NM_001083961.2(WDR62):c.3012_3034dup (p.Pro1012fs)
|
rs1555723585
|
|
NM_001083961.2(WDR62):c.332+1G>A
|
rs587784553
|
|
NM_001083961.2(WDR62):c.3383_3401del (p.Ser1128fs)
|
rs775357840
|
|
NM_001083961.2(WDR62):c.3469_3470del (p.Ala1157fs)
|
rs2145874989
|
|
NM_001083961.2(WDR62):c.3731_3740del (p.Thr1244fs)
|
|
|
NM_001083961.2(WDR62):c.3839_3855del (p.Gly1280fs)
|
rs397704725
|
|
NM_001083961.2(WDR62):c.3863G>A (p.Trp1288Ter)
|
|
|
NM_001083961.2(WDR62):c.3936dup (p.Val1313fs)
|
rs587776900
|
|
NM_001083961.2(WDR62):c.4205_4208del (p.Val1402fs)
|
rs397704721
|
|
NM_001083961.2(WDR62):c.4241dup (p.Ser1415fs)
|
rs587776899
|
|
NM_001083961.2(WDR62):c.669del (p.Trp224fs)
|
rs1599760058
|
|
NM_001083961.2(WDR62):c.671G>C (p.Trp224Ser)
|
rs267607176
|
|
NM_001098484.3(SLC4A4):c.1026A>C (p.Arg342Ser)
|
rs121908856
|
|
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs)
|
rs1553913019
|
|
NM_001099287.1(NIPAL4):c.2T>C (p.Met1Thr)
|
rs1581262988
|
|
NM_001099287.2(NIPAL4):c.1082del (p.Asn361fs)
|
rs1581273254
|
|
NM_001099287.2(NIPAL4):c.221T>A (p.Val74Asp)
|
rs1581265715
|
|
NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter)
|
rs199422216
|
|
NM_001099287.2(NIPAL4):c.284G>A (p.Gly95Glu)
|
rs900769357
|
|
NM_001099287.2(NIPAL4):c.348A>C (p.Glu116Asp)
|
rs371608909
|
|
NM_001099287.2(NIPAL4):c.369C>G (p.Tyr123Ter)
|
rs777992589
|
|
NM_001099287.2(NIPAL4):c.37+5G>C
|
rs1452328130
|
|
NM_001099287.2(NIPAL4):c.425+1G>A
|
rs1581269752
|
|
NM_001099287.2(NIPAL4):c.426-3del
|
rs1581271844
|
|
NM_001099287.2(NIPAL4):c.437C>T (p.Ser146Phe)
|
rs1581271869
|
|
NM_001099287.2(NIPAL4):c.509C>G (p.Thr170Arg)
|
rs1581272003
|
|
NM_001099287.2(NIPAL4):c.520_526del (p.Ile174fs)
|
rs1561831443
|
|
NM_001099287.2(NIPAL4):c.586+1G>A
|
rs1561831582
|
|
NM_001099287.2(NIPAL4):c.650C>T (p.Pro217Leu)
|
rs1027052344
|
|
NM_001099287.2(NIPAL4):c.753C>G (p.Asn251Lys)
|
rs1581272834
|
|
NM_001099287.2(NIPAL4):c.828C>A (p.Ser276Arg)
|
rs886060339
|
|
NM_001099287.2(NIPAL4):c.897C>A (p.Tyr299Ter)
|
rs373501601
|
|
NM_001099287.2(NIPAL4):c.97del (p.Leu33fs)
|
rs1581265561
|
|
NM_001101426.4(CRPPA):c.1092C>A (p.Cys364Ter)
|
|
|
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)
|
rs587777798
|
|
NM_001101426.4(CRPPA):c.1120-1G>T
|
rs397515396
|
|
NM_001101426.4(CRPPA):c.1137dup (p.Lys380Ter)
|
|
|
NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter)
|
rs1453431411
|
|
NM_001101426.4(CRPPA):c.161G>C (p.Gly54Ala)
|
rs587777797
|
|
NM_001101426.4(CRPPA):c.165del (p.Cys56fs)
|
rs1554371369
|
|
NM_001101426.4(CRPPA):c.17_24dup (p.Ala9fs)
|
|
|
NM_001101426.4(CRPPA):c.184del (p.Val62fs)
|
rs1048457038
|
|
NM_001101426.4(CRPPA):c.337C>T (p.Gln113Ter)
|
|
|
NM_001101426.4(CRPPA):c.52dup (p.Leu18fs)
|
rs2128321527
|
|
NM_001101426.4(CRPPA):c.534+1del
|
|
|
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs)
|
rs2128321525
|
|
NM_001101426.4(CRPPA):c.6_13dup (p.Pro5fs)
|
|
|
NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs)
|
rs781097746
|
|
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter)
|
rs1466219701
|
|
NM_001101426.4(CRPPA):c.79_80del (p.Thr27fs)
|
|
|
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs)
|
rs1554305719
|
|
NM_001101426.4(CRPPA):c.896del (p.Gly299fs)
|
|
|
NM_001102564.3(IFT43):c.1A>G (p.Met1Val)
|
rs387907107
|
|
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)
|
rs28937872
|
|
NM_001111.5(ADAR):c.1000del (p.Val333_Leu334insTer)
|
|
|
NM_001111.5(ADAR):c.1011_1012del (p.Met337fs)
|
|
|
NM_001111.5(ADAR):c.1076_1080del (p.Lys359fs)
|
rs398122898
|
|
NM_001111.5(ADAR):c.1096_1097del (p.Lys366fs)
|
|
|
NM_001111.5(ADAR):c.133G>T (p.Glu45Ter)
|
|
|
NM_001111.5(ADAR):c.1420C>T (p.Arg474Ter)
|
rs121912421
|
|
NM_001111.5(ADAR):c.1472C>G (p.Ser491Ter)
|
|
|
NM_001111.5(ADAR):c.1576C>T (p.Gln526Ter)
|
|
|
NM_001111.5(ADAR):c.1630C>T (p.Arg544Ter)
|
rs768943773
|
|
NM_001111.5(ADAR):c.1740dup (p.Ser581fs)
|
|
|
NM_001111.5(ADAR):c.2128_2131dup (p.Asn711fs)
|
rs2101619771
|
|
NM_001111.5(ADAR):c.2309del (p.Pro770fs)
|
rs2101589045
|
|
NM_001111.5(ADAR):c.2344C>T (p.Gln782Ter)
|
rs2101588892
|
|
NM_001111.5(ADAR):c.2563_2564del (p.Leu855fs)
|
|
|
NM_001111.5(ADAR):c.2564dup (p.Thr856fs)
|
rs1571065237
|
|
NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs)
|
rs1180888940
|
|
NM_001111.5(ADAR):c.2571_2572del (p.Asn857fs)
|
|
|
NM_001111.5(ADAR):c.2583del (p.Ser862fs)
|
|
|
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.271del (p.Arg91fs)
|
|
|
NM_001111.5(ADAR):c.2720A>G (p.Asn907Ser)
|
rs1696974967
|
|
NM_001111.5(ADAR):c.2929_2939dup (p.Met981fs)
|
rs2101576292
|
|
NM_001111.5(ADAR):c.296dup (p.Arg100fs)
|
|
|
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.3040G>T (p.Glu1014Ter)
|
|
|
NM_001111.5(ADAR):c.3125G>A (p.Arg1042His)
|
|
|
NM_001111.5(ADAR):c.3202+1G>A
|
rs2101565765
|
|
NM_001111.5(ADAR):c.3232C>T (p.Arg1078Cys)
|
|
|
NM_001111.5(ADAR):c.3233G>T (p.Arg1078Leu)
|
|
|
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.3346del (p.Arg1116fs)
|
rs1557863734
|
|
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter)
|
rs1571046959
|
|
NM_001111.5(ADAR):c.3402T>A (p.Tyr1134Ter)
|
|
|
NM_001111.5(ADAR):c.344del (p.Gly115fs)
|
rs2101644365
|
|
NM_001111.5(ADAR):c.391C>T (p.Gln131Ter)
|
|
|
NM_001111.5(ADAR):c.439del (p.Leu147fs)
|
|
|
NM_001111.5(ADAR):c.520C>T (p.Arg174Ter)
|
|
|
NM_001111.5(ADAR):c.649dup (p.Ser217fs)
|
|
|
NM_001111.5(ADAR):c.763C>T (p.Gln255Ter)
|
rs2101641985
|
|
NM_001111.5(ADAR):c.85C>T (p.Gln29Ter)
|
rs2101645916
|
|
NM_001111.5(ADAR):c.929dup (p.Ser311fs)
|
rs2101641171
|
|
NM_001111.5(ADAR):c.982C>T (p.Arg328Ter)
|
rs1322905273
|
|
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter)
|
rs104894391
|
|
NM_001122769.3(LCA5):c.1151del (p.Pro384fs)
|
rs386834252
|
|
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)
|
rs765473119
|
|
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter)
|
rs766143193
|
|
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs)
|
rs1769904494
|
|
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)
|
rs866395428
|
|
NM_001124758.2(SPNS2):c.c.1066_1067delinsT (p.Pro356Cysfs)
|
rs1555537637
|
|
NM_001124758.3(SPNS2):c.952TCC[1] (p.Ser319del)
|
rs749994718
|
|
NM_001127453.2(GSDME):c.1089_1113dup (p.Pro372fs)
|
|
|
NM_001127453.2(GSDME):c.1102C>G (p.Gln368Glu)
|
rs2128047712
|
|
NM_001127453.2(GSDME):c.991-21TTC[2]
|
rs727505273
|
|
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)
|
rs61752132
|
|
NM_001127649.3(PEX26):c.154del (p.Arg52fs)
|
|
|
NM_001127649.3(PEX26):c.178_179delinsA (p.Ala61fs)
|
rs1926403854
|
|
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter)
|
rs1556586479
|
|
NM_001127649.3(PEX26):c.190_191del (p.Leu65fs)
|
|
|
NM_001127649.3(PEX26):c.192_216del (p.Ser64fs)
|
|
|
NM_001127649.3(PEX26):c.230+1G>A
|
|
|
NM_001127649.3(PEX26):c.230+1G>T
|
rs267608190
|
|
NM_001127649.3(PEX26):c.254dup (p.Cys86fs)
|
rs61752133
|
|
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)
|
rs28940308
|
|
NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)
|
|
|
NM_001127649.3(PEX26):c.28del (p.Ala10fs)
|
|
|
NM_001127649.3(PEX26):c.296G>A (p.Trp99Ter)
|
rs62641229
|
|
NM_001127649.3(PEX26):c.297G>A (p.Trp99Ter)
|
|
|
NM_001127649.3(PEX26):c.298C>T (p.Gln100Ter)
|
|
|
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr)
|
rs74315506
|
|
NM_001127649.3(PEX26):c.329_330del (p.Tyr110fs)
|
|
|
NM_001127649.3(PEX26):c.344del (p.Lys115fs)
|
|
|
NM_001127649.3(PEX26):c.34del (p.Leu12fs)
|
rs61752129
|
|
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)
|
rs61752129
|
|
NM_001127649.3(PEX26):c.354del (p.Val120fs)
|
rs1926487809
|
|
NM_001127649.3(PEX26):c.354dup (p.Lys119fs)
|
|
|
NM_001127649.3(PEX26):c.37_38del (p.Arg13fs)
|
|
|
NM_001127649.3(PEX26):c.396del (p.Glu133fs)
|
|
|
NM_001127649.3(PEX26):c.436C>T (p.Gln146Ter)
|
|
|
NM_001127649.3(PEX26):c.443del (p.Pro148fs)
|
|
|
NM_001127649.3(PEX26):c.468T>G (p.Tyr156Ter)
|
|
|
NM_001127649.3(PEX26):c.493C>T (p.Gln165Ter)
|
rs781370363
|
|
NM_001127649.3(PEX26):c.613del (p.Gln205fs)
|
rs2123654642
|
|
NM_001127649.3(PEX26):c.725_726del (p.Ser242fs)
|
|
|
NM_001127649.3(PEX26):c.73_79del (p.Val25fs)
|
|
|
NM_001127649.3(PEX26):c.757A>T (p.Lys253Ter)
|
|
|
NM_001127649.3(PEX26):c.[34dup;669_814+1del]
|
|
|
NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter)
|
rs2112457636
|
|
NM_001127671.2(LIFR):c.171_174del (p.Asn58fs)
|
rs1561179853
|
|
NM_001127671.2(LIFR):c.2013dup (p.Met672fs)
|
rs1430793861
|
|
NM_001127671.2(LIFR):c.2034del (p.Ser679fs)
|
|
|
NM_001127671.2(LIFR):c.2434C>T (p.Arg812Ter)
|
rs756675225
|
|
NM_001127671.2(LIFR):c.2472_2476del (p.Ser824fs)
|
|
|
NM_001127671.2(LIFR):c.2497+1G>A
|
|
|
NM_001127671.2(LIFR):c.274C>T (p.Gln92Ter)
|
rs1580117891
|
|
NM_001127671.2(LIFR):c.503C>G (p.Ser168Ter)
|
rs779829941
|
|
NM_001127671.2(LIFR):c.653dup (p.Glu219fs)
|
rs886042160
|
|
NM_001127671.2(LIFR):c.703_704del (p.Trp235fs)
|
|
|
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)
|
rs1745753552
|
|
NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs)
|
rs398123285
|
|
NM_001128178.3(NPHP1):c.1039del (p.Val347fs)
|
|
|
NM_001128178.3(NPHP1):c.1064_1080del (p.Leu354_Cys355insTer)
|
|
|
NM_001128178.3(NPHP1):c.1084-1G>T
|
rs1458494785
|
|
NM_001128178.3(NPHP1):c.1130del (p.Lys377fs)
|
rs772720024
|
|
NM_001128178.3(NPHP1):c.1230del (p.Gly411fs)
|
|
|
NM_001128178.3(NPHP1):c.1246_1252del (p.Leu416fs)
|
|
|
NM_001128178.3(NPHP1):c.1270-2A>G
|
|
|
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
|
|
|
NM_001128178.3(NPHP1):c.1361_1362del (p.Glu454fs)
|
rs1553484094
|
|
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs)
|
rs2104483923
|
|
NM_001128178.3(NPHP1):c.1412del (p.Pro471fs)
|
rs1680874514
|
|
NM_001128178.3(NPHP1):c.1479dup (p.Leu494fs)
|
|
|
NM_001128178.3(NPHP1):c.1493_1494del (p.Leu498fs)
|
rs2104480049
|
|
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)
|
rs1017750255
|
|
NM_001128178.3(NPHP1):c.161del (p.Gln54fs)
|
|
|
NM_001128178.3(NPHP1):c.1628_1635del (p.Ser543fs)
|
|
|
NM_001128178.3(NPHP1):c.16C>T (p.Gln6Ter)
|
|
|
NM_001128178.3(NPHP1):c.1725G>A (p.Trp575Ter)
|
rs1679301117
|
|
NM_001128178.3(NPHP1):c.172G>T (p.Glu58Ter)
|
|
|
NM_001128178.3(NPHP1):c.1777del (p.Phe592_Leu593insTer)
|
|
|
NM_001128178.3(NPHP1):c.1847dup (p.Phe617fs)
|
|
|
NM_001128178.3(NPHP1):c.1886_1893del (p.Trp629fs)
|
|
|
NM_001128178.3(NPHP1):c.1977del (p.Phe659fs)
|
rs1679148969
|
|
NM_001128178.3(NPHP1):c.19C>T (p.Arg7Ter)
|
|
|
NM_001128178.3(NPHP1):c.265_266del (p.Leu89fs)
|
|
|
NM_001128178.3(NPHP1):c.343del (p.Thr115fs)
|
|
|
NM_001128178.3(NPHP1):c.480dup (p.Gly161fs)
|
|
|
NM_001128178.3(NPHP1):c.483del (p.Asp162fs)
|
rs1410236296
|
|
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.625-1G>A
|
|
|
NM_001128178.3(NPHP1):c.625-2A>G
|
|
|
NM_001128178.3(NPHP1):c.64C>T (p.Gln22Ter)
|
|
|
NM_001128178.3(NPHP1):c.69+1del
|
|
|
NM_001128178.3(NPHP1):c.735del (p.His247fs)
|
|
|
NM_001128178.3(NPHP1):c.739del (p.His247fs)
|
|
|
NM_001128178.3(NPHP1):c.771+124C>T
|
|
|
NM_001128178.3(NPHP1):c.771+130A>T
|
|
|
NM_001128178.3(NPHP1):c.771+58C>T
|
|
|
NM_001128178.3(NPHP1):c.771+77_771+78del
|
rs1682584195
|
|
NM_001128178.3(NPHP1):c.77dup (p.Ser26fs)
|
|
|
NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter)
|
rs121907898
|
|
NM_001128178.3(NPHP1):c.812_813insA (p.Pro272fs)
|
rs2104553788
|
|
NM_001128178.3(NPHP1):c.843dup (p.Gln282fs)
|
|
|
NM_001128178.3(NPHP1):c.844C>T (p.Gln282Ter)
|
rs1328879943
|
|
NM_001128178.3(NPHP1):c.84_87del (p.Ser29fs)
|
|
|
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)
|
|
|
NM_001128178.3(NPHP1):c.937del (p.Asp313fs)
|
rs2104548314
|
|
NM_001128178.3(NPHP1):c.995T>G (p.Leu332Ter)
|
|
|
NM_001128178.3(NPHP1):c.998G>A (p.Trp333Ter)
|
|
|
NM_001128228.3(TPRN):c.1427del (p.Pro476fs)
|
rs387906219
|
|
NM_001128228.3(TPRN):c.1530del (p.Thr511fs)
|
rs387906222
|
|
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs)
|
rs387906221
|
|
NM_001128228.3(TPRN):c.227_237dup (p.Leu80fs)
|
rs387906220
|
|
NM_001128228.3(TPRN):c.301G>T (p.Glu101Ter)
|
|
|
NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter)
|
rs1564386891
|
|
NM_001128228.3(TPRN):c.943dup (p.Leu315fs)
|
|
|
NM_001128425.1(MUTYH):c.348+33_*210delinsTA
|
|
|
NM_001128425.2(MUTYH):c.177_178insCA (p.Glu60fs)
|
rs2149176927
|
|
NM_001128425.2(MUTYH):c.178G>T (p.Glu60Ter)
|
rs1557487793
|
|
NM_001128425.2(MUTYH):c.178dup (p.Glu60fs)
|
|
|
NM_001128425.2(MUTYH):c.196del (p.Ala66fs)
|
|
|
NM_001128425.2(MUTYH):c.200del (p.Gly67fs)
|
rs746449748
|
|
NM_001128425.2(MUTYH):c.27_28del (p.Ser9fs)
|
|
|
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)
|
rs1064795596
|
|
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)
|
rs767402084
|
|
NM_001128425.2(MUTYH):c.933_933+1del
|
rs1553127514
|
|
NM_001128431.4(SLC39A14):c.1147G>A (p.Gly383Arg)
|
rs879253766
|
|
NM_001128431.4(SLC39A14):c.1336C>T (p.Pro446Ser)
|
rs1015949817
|
|
NM_001128431.4(SLC39A14):c.1407C>G (p.Asn469Lys)
|
rs750281602
|
|
NM_001128431.4(SLC39A14):c.292T>G (p.Phe98Val)
|
rs879253763
|
|
NM_001128431.4(SLC39A14):c.313G>T (p.Glu105Ter)
|
rs879253764
|
|
NM_001128431.4(SLC39A14):c.751-9C>G
|
rs1039778197
|
|
NM_001129.5(AEBP1):c.1067G>A (p.Trp356Ter)
|
rs2096226168
|
|
NM_001129.5(AEBP1):c.1320_1326del (p.Arg440fs)
|
rs1554327284
|
|
NM_001129.5(AEBP1):c.1470del (p.Asn490fs)
|
rs1554327449
|
|
NM_001129.5(AEBP1):c.2853C>A (p.Tyr951Ter)
|
rs2096232673
|
|
NM_001130053.5(EEF1D):c.948G>A (p.Trp316Ter)
|
rs1563978827
|
|
NM_001130987.2(DYSF):c.1000del (p.Arg334fs)
|
rs1573671276
|
|
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)
|
rs398123764
|
|
NM_001130987.2(DYSF):c.1149+3G>C
|
rs1573704236
|
|
NM_001130987.2(DYSF):c.1263_1276+1dup
|
rs863225019
|
|
NM_001130987.2(DYSF):c.1350del (p.Phe451fs)
|
rs766936914
|
|
NM_001130987.2(DYSF):c.1381-2A>G
|
rs786200897
|
|
NM_001130987.2(DYSF):c.1449+1G>A
|
rs1553535902
|
|
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)
|
rs202044973
|
|
NM_001130987.2(DYSF):c.147+1G>A
|
rs2082833010
|
|
NM_001130987.2(DYSF):c.1471dup (p.Met491fs)
|
rs1236367931
|
|
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)
|
rs398123767
|
|
NM_001130987.2(DYSF):c.1560del (p.Gly521fs)
|
rs1456182703
|
|
NM_001130987.2(DYSF):c.1562del (p.Gly521fs)
|
rs1559109621
|
|
NM_001130987.2(DYSF):c.1577-2A>G
|
rs1553542142
|
|
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)
|
rs886042641
|
|
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter)
|
rs1553543506
|
|
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)
|
rs886043900
|
|
NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr)
|
rs121908960
|
|
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp)
|
rs121908957
|
|
NM_001130987.2(DYSF):c.2217-1G>T
|
rs886044379
|
|
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)
|
rs121908956
|
|
NM_001130987.2(DYSF):c.2472C>A (p.Tyr824Ter)
|
|
|
NM_001130987.2(DYSF):c.2473C>T (p.Gln825Ter)
|
rs1574016452
|
|
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)
|
rs794727636
|
|
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=)
|
rs886042637
|
|
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)
|
rs750028300
|
|
NM_001130987.2(DYSF):c.3085+2T>C
|
rs886042951
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)
|
rs369607332
|
|
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)
|
rs746315830
|
|
NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser)
|
rs202000264
|
|
NM_001130987.2(DYSF):c.3497-33A>G
|
rs786205083
|
|
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)
|
rs398123781
|
|
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs)
|
rs886042827
|
|
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter)
|
rs1380642629
|
|
NM_001130987.2(DYSF):c.3702del (p.Val1235fs)
|
|
|
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter)
|
rs778092738
|
|
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs)
|
rs1574340607
|
|
NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter)
|
rs866823474
|
|
NM_001130987.2(DYSF):c.4221+1G>C
|
rs1474151297
|
|
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter)
|
rs971134497
|
|
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)
|
rs398123786
|
|
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)
|
rs886043145
|
|
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)
|
rs1574354515
|
|
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs)
|
rs1057516051
|
|
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs)
|
rs786200896
|
|
NM_001130987.2(DYSF):c.5096_5115delinsA (p.Gly1699fs)
|
|
|
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)
|
rs1057519132
|
|
NM_001130987.2(DYSF):c.5156_5174+4dup
|
rs786205082
|
|
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)
|
rs758992291
|
|
NM_001130987.2(DYSF):c.5174+5G>A
|
rs745891180
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter)
|
rs762398889
|
|
NM_001130987.2(DYSF):c.5317+1G>A
|
rs773386253
|
|
NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly)
|
rs121908961
|
|
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs)
|
rs2095035479
|
|
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs)
|
rs769873428
|
|
NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs)
|
rs1558783870
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
NM_001130987.2(DYSF):c.5547-2A>G
|
rs1238293747
|
|
NM_001130987.2(DYSF):c.5621del (p.Met1874fs)
|
rs2152956005
|
|
NM_001130987.2(DYSF):c.5642+1G>A
|
rs727503915
|
|
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp)
|
rs1131692158
|
|
NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs)
|
|
|
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs)
|
rs1573100371
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
|
NM_001130987.2(DYSF):c.5785-824C>T
|
rs1285082850
|
|
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs)
|
rs398123796
|
|
NM_001130987.2(DYSF):c.5849G>A (p.Trp1950Ter)
|
rs2152961374
|
|
NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter)
|
rs1573138336
|
|
NM_001130987.2(DYSF):c.5943C>A (p.Cys1981Ter)
|
|
|
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)
|
rs398123797
|
|
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)
|
rs1064794020
|
|
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)
|
rs1553521017
|
|
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter)
|
rs1553422723
|
|
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)
|
rs373585652
|
|
NM_001130987.2(DYSF):c.730del (p.Leu244fs)
|
rs1553521119
|
|
NM_001130987.2(DYSF):c.759+1G>C
|
rs398123800
|
|
NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter)
|
|
|
NM_001130987.2(DYSF):c.892_893del (p.Leu298fs)
|
rs1553522104
|
|
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs)
|
rs1337417322
|
|
NM_001130987.2(DYSF):c.922del (p.Glu308fs)
|
rs1553522133
|
|
NM_001130987.2(DYSF):c.951+1del
|
rs786200898
|
|
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)
|
rs2128081591
|
|
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)
|
rs121434348
|
|
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu)
|
rs397514726
|
|
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly)
|
rs863225133
|
|
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter)
|
rs121434349
|
|
NM_001134831.2(AHI1):c.1326del (p.Val443fs)
|
rs1788834778
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
NM_001134831.2(AHI1):c.1330_1331insGGATA (p.Ile444fs)
|
rs1788833484
|
|
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer)
|
rs2128071123
|
|
NM_001134831.2(AHI1):c.1420del (p.Ile474fs)
|
rs1369440486
|
|
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)
|
rs371637724
|
|
NM_001134831.2(AHI1):c.1614del (p.Val539fs)
|
rs863225141
|
|
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC
|
rs863225148
|
|
NM_001134831.2(AHI1):c.1761del (p.Lys586_Trp587insTer)
|
rs1787347907
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
|
rs797045223
|
|
NM_001134831.2(AHI1):c.1889del (p.Ser630fs)
|
rs1786487832
|
|
NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs)
|
rs863225132
|
|
NM_001134831.2(AHI1):c.1912+5G>T
|
rs1554347012
|
|
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter)
|
rs764412921
|
|
NM_001134831.2(AHI1):c.1983del (p.Trp662fs)
|
rs1459452503
|
|
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)
|
rs772989270
|
|
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn)
|
rs863225145
|
|
NM_001134831.2(AHI1):c.2036+1G>T
|
rs776093293
|
|
NM_001134831.2(AHI1):c.2037-1G>C
|
rs1784918128
|
|
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs)
|
rs863225136
|
|
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)
|
rs863225134
|
|
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)
|
rs863225144
|
|
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs)
|
rs863225140
|
|
NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter)
|
rs766069291
|
|
NM_001134831.2(AHI1):c.2266+1G>A
|
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
|
|
|
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)
|
rs863225139
|
|
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)
|
rs863225146
|
|
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)
|
rs863225146
|
|
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)
|
rs387906270
|
|
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
|
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs)
|
rs587783014
|
|
NM_001134831.2(AHI1):c.2623+1G>T
|
rs751823180
|
|
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)
|
rs1355690902
|
|
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs)
|
rs1463748841
|
|
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)
|
rs753874898
|
|
NM_001135022.2(ELMOD3):c.794T>C (p.Leu265Ser)
|
rs587777040
|
|
NM_001135697.3(SGCA):c.584+521del
|
rs1220674950
|
|
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs)
|
rs1203487591
|
|
NM_001136035.4(TRMT1):c.1506+1G>T
|
rs1568361011
|
|
NM_001136035.4(TRMT1):c.1630C>T (p.Arg544Ter)
|
rs763302328
|
|
NM_001136035.4(TRMT1):c.1639G>T (p.Gly547Ter)
|
|
|
NM_001136035.4(TRMT1):c.1834-7C>T
|
|
|
NM_001136035.4(TRMT1):c.312del (p.Lys105fs)
|
rs2019321826
|
|
NM_001136035.4(TRMT1):c.458del (p.Gly153fs)
|
|
|
NM_001136035.4(TRMT1):c.657_688del (p.Gln219fs)
|
rs746572548
|
|
NM_001139.3(ALOX12B):c.1015C>G (p.Pro339Ala)
|
rs1977158385
|
|
NM_001139.3(ALOX12B):c.1018del (p.Leu340fs)
|
rs1285636957
|
|
NM_001139.3(ALOX12B):c.1025T>C (p.Leu342Pro)
|
rs1202860455
|
|
NM_001139.3(ALOX12B):c.1057C>A (p.Pro353Thr)
|
rs1977157245
|
|
NM_001139.3(ALOX12B):c.1071+1G>C
|
rs1598180319
|
|
NM_001139.3(ALOX12B):c.1071+1dup
|
rs1977156997
|
|
NM_001139.3(ALOX12B):c.1078C>G (p.Gln360Glu)
|
rs1977105578
|
|
NM_001139.3(ALOX12B):c.1127G>A (p.Trp376Ter)
|
rs1977104461
|
|
NM_001139.3(ALOX12B):c.1211T>G (p.Leu404Arg)
|
rs1977100621
|
|
NM_001139.3(ALOX12B):c.1219G>A (p.Glu407Lys)
|
rs1977100213
|
|
NM_001139.3(ALOX12B):c.1258T>G (p.Cys420Gly)
|
rs1598178838
|
|
NM_001139.3(ALOX12B):c.1261C>T (p.His421Tyr)
|
rs1977099347
|
|
NM_001139.3(ALOX12B):c.1275+30_1275+35del
|
rs1977098048
|
|
NM_001139.3(ALOX12B):c.1275+77_1275+105dup
|
rs1977096738
|
|
NM_001139.3(ALOX12B):c.1275+78G>A
|
rs1167153704
|
|
NM_001139.3(ALOX12B):c.1277T>C (p.Leu426Pro)
|
rs137853023
|
|
NM_001139.3(ALOX12B):c.1309A>T (p.Ile437Phe)
|
rs1977091512
|
|
NM_001139.3(ALOX12B):c.130_131del (p.Asp44fs)
|
rs1978304609
|
|
NM_001139.3(ALOX12B):c.1333CTC[1] (p.Leu446del)
|
rs1977090006
|
|
NM_001139.3(ALOX12B):c.1349G>A (p.Gly450Glu)
|
rs772257172
|
|
NM_001139.3(ALOX12B):c.1350del (p.Leu451fs)
|
rs746723399
|
|
NM_001139.3(ALOX12B):c.1350dup (p.Leu451fs)
|
rs746723399
|
|
NM_001139.3(ALOX12B):c.1369T>C (p.Ser457Pro)
|
rs1977081175
|
|
NM_001139.3(ALOX12B):c.1385G>A (p.Gly462Asp)
|
rs774958790
|
|
NM_001139.3(ALOX12B):c.1389del (p.Phe463fs)
|
rs387906349
|
|
NM_001139.3(ALOX12B):c.1498G>C (p.Asp500His)
|
rs1064796312
|
|
NM_001139.3(ALOX12B):c.149_353del (p.Val50fs)
|
|
|
NM_001139.3(ALOX12B):c.1533-1G>T
|
rs1977066082
|
|
NM_001139.3(ALOX12B):c.1594G>A (p.Glu532Lys)
|
rs768093512
|
|
NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met)
|
rs962267153
|
|
NM_001139.3(ALOX12B):c.1613A>C (p.Gln538Pro)
|
rs1977062849
|
|
NM_001139.3(ALOX12B):c.1625_1626del (p.Lys542fs)
|
rs745366046
|
|
NM_001139.3(ALOX12B):c.1630T>C (p.Cys544Arg)
|
rs1364754878
|
|
NM_001139.3(ALOX12B):c.1634T>G (p.Leu545Arg)
|
rs1977062403
|
|
NM_001139.3(ALOX12B):c.1654+1G>A
|
rs1977061578
|
|
NM_001139.3(ALOX12B):c.1655-7C>A
|
rs201543289
|
|
NM_001139.3(ALOX12B):c.1669_1681del (p.Arg558fs)
|
rs1977028665
|
|
NM_001139.3(ALOX12B):c.1676C>T (p.Thr559Ile)
|
rs1977028854
|
|
NM_001139.3(ALOX12B):c.1694G>C (p.Arg565Pro)
|
rs1567980597
|
|
NM_001139.3(ALOX12B):c.1732C>T (p.His578Tyr)
|
rs1977027733
|
|
NM_001139.3(ALOX12B):c.1734C>A (p.His578Gln)
|
rs137853024
|
|
NM_001139.3(ALOX12B):c.1742T>G (p.Val581Gly)
|
rs1977027551
|
|
NM_001139.3(ALOX12B):c.1797G>T (p.Met599Ile)
|
rs1977018643
|
|
NM_001139.3(ALOX12B):c.1821G>C (p.Lys607Asn)
|
rs1977018125
|
|
NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln)
|
rs780420901
|
|
NM_001139.3(ALOX12B):c.1861G>T (p.Asp621Tyr)
|
rs1977016973
|
|
NM_001139.3(ALOX12B):c.1871C>T (p.Thr624Ile)
|
rs1977016836
|
|
NM_001139.3(ALOX12B):c.1926+2T>G
|
rs1977016035
|
|
NM_001139.3(ALOX12B):c.1937dup (p.His647fs)
|
rs1977011690
|
|
NM_001139.3(ALOX12B):c.195_220del (p.Ile66fs)
|
rs1978297341
|
|
NM_001139.3(ALOX12B):c.1963G>A (p.Glu655Lys)
|
rs1977010880
|
|
NM_001139.3(ALOX12B):c.1977del (p.Arg660fs)
|
rs1230917852
|
|
NM_001139.3(ALOX12B):c.2000A>C (p.Gln667Pro)
|
rs1977009717
|
|
NM_001139.3(ALOX12B):c.2005_2037dup (p.Leu669_Arg679dup)
|
rs1977008747
|
|
NM_001139.3(ALOX12B):c.2012del (p.Gln671fs)
|
rs1977009324
|
|
NM_001139.3(ALOX12B):c.2021_2022dup (p.Asp675fs)
|
rs1977009175
|
|
NM_001139.3(ALOX12B):c.2035C>A (p.Arg679Ser)
|
rs1977008879
|
|
NM_001139.3(ALOX12B):c.2036G>A (p.Arg679His)
|
rs397514528
|
|
NM_001139.3(ALOX12B):c.2036G>T (p.Arg679Leu)
|
rs397514528
|
|
NM_001139.3(ALOX12B):c.2041A>T (p.Lys681Ter)
|
rs1977008620
|
|
NM_001139.3(ALOX12B):c.2060A>G (p.Tyr687Cys)
|
rs1482844053
|
|
NM_001139.3(ALOX12B):c.2064C>G (p.Tyr688Ter)
|
rs1977007859
|
|
NM_001139.3(ALOX12B):c.208_211dup (p.Lys71fs)
|
rs1978297429
|
|
NM_001139.3(ALOX12B):c.2094C>A (p.Ser698Arg)
|
rs1977007343
|
|
NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs)
|
rs1567985261
|
|
NM_001139.3(ALOX12B):c.297C>A (p.Phe99Leu)
|
rs1978296717
|
|
NM_001139.3(ALOX12B):c.307C>T (p.Gln103Ter)
|
rs1978296625
|
|
NM_001139.3(ALOX12B):c.325G>T (p.Glu109Ter)
|
rs536446862
|
|
NM_001139.3(ALOX12B):c.353-1G>A
|
rs1598181810
|
|
NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn)
|
rs397514530
|
|
NM_001139.3(ALOX12B):c.416_417del (p.Ala139fs)
|
rs1977208852
|
|
NM_001139.3(ALOX12B):c.435-2A>G
|
rs1598181642
|
|
NM_001139.3(ALOX12B):c.467_470dup (p.His158fs)
|
rs780867565
|
|
NM_001139.3(ALOX12B):c.47C>G (p.Ser16Trp)
|
rs147784568
|
|
NM_001139.3(ALOX12B):c.527+1G>A
|
rs1356373737
|
|
NM_001139.3(ALOX12B):c.527+2T>G
|
rs1555643304
|
|
NM_001139.3(ALOX12B):c.58G>T (p.Asp20Tyr)
|
rs1978305028
|
|
NM_001139.3(ALOX12B):c.632_633del (p.Phe211fs)
|
rs1977196635
|
|
NM_001139.3(ALOX12B):c.67T>C (p.Ser23Pro)
|
rs1978304974
|
|
NM_001139.3(ALOX12B):c.698G>A (p.Trp233Ter)
|
rs1977185603
|
|
NM_001139.3(ALOX12B):c.734_745del (p.Gly245_Ser248del)
|
rs1977184377
|
|
NM_001139.3(ALOX12B):c.769C>G (p.His257Asp)
|
rs1233776328
|
|
NM_001139.3(ALOX12B):c.771_772del (p.His257fs)
|
rs1977172596
|
|
NM_001139.3(ALOX12B):c.786CTT[1] (p.Phe264del)
|
rs1302782570
|
|
NM_001139.3(ALOX12B):c.793G>A (p.Gly265Arg)
|
rs1977171852
|
|
NM_001139.3(ALOX12B):c.814G>T (p.Val272Phe)
|
rs1308351316
|
|
NM_001139.3(ALOX12B):c.845delinsAA (p.Arg282fs)
|
rs1977170208
|
|
NM_001139.3(ALOX12B):c.864del (p.Val289fs)
|
rs1977169495
|
|
NM_001139.3(ALOX12B):c.893T>C (p.Leu298Pro)
|
rs1977168456
|
|
NM_001139.3(ALOX12B):c.928-1G>C
|
rs1977161156
|
|
NM_001139.3(ALOX12B):c.938_941dup (p.Ala316fs)
|
rs1977160664
|
|
NM_001143992.2(WRAP53):c.1118del (p.Leu373fs)
|
rs1597422298
|
|
NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr)
|
rs281865549
|
|
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu)
|
rs281865547
|
|
NM_001145026.2(PTPRQ):c.2726del (p.Glu909fs)
|
|
|
NM_001145026.2(PTPRQ):c.4006C>T (p.Gln1336Ter)
|
rs1896318374
|
|
NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter)
|
rs183258549
|
|
NM_001145306.2(CDK6):c.589G>A (p.Ala197Thr)
|
rs606231255
|
|
NM_001145313.3(FSD1L):c.1411C>T (p.Gln471Ter)
|
|
|
NM_001145809.2(MYH14):c.20C>A (p.Ser7Ter)
|
rs119103279
|
|
NM_001145809.2(MYH14):c.2299C>A (p.Arg767Ser)
|
rs28940307
|
|
NM_001145809.2(MYH14):c.3049C>T (p.Leu1017Phe)
|
rs28940306
|
|
NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu)
|
rs119103281
|
|
NM_001145809.2(MYH14):c.5990del (p.Thr1997fs)
|
rs2123499275
|
|
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)
|
rs74315437
|
|
NM_001146079.2(CLDN14):c.398del (p.Met133fs)
|
rs786200885
|
|
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg)
|
rs786204841
|
|
NM_001146262.4(SYT14):c.1316G>A (p.Gly439Asp)
|
rs387907033
|
|
NM_001160372.4(TRAPPC9):c.175del (p.His59fs)
|
|
|
NM_001160372.4(TRAPPC9):c.1840C>T (p.Arg614Ter)
|
|
|
NM_001160372.4(TRAPPC9):c.1994dup (p.Val666fs)
|
rs2131714597
|
|
NM_001160372.4(TRAPPC9):c.2019_2022del (p.Leu674fs)
|
rs2131714307
|
|
NM_001160372.4(TRAPPC9):c.203G>A (p.Trp68Ter)
|
|
|
NM_001160372.4(TRAPPC9):c.2186del (p.Gly729fs)
|
|
|
NM_001160372.4(TRAPPC9):c.2458_2459del (p.Leu820fs)
|
rs2131321455
|
|
NM_001160372.4(TRAPPC9):c.2520dup (p.Glu841fs)
|
|
|
NM_001160372.4(TRAPPC9):c.2557-2A>C
|
rs1587520018
|
|
NM_001160372.4(TRAPPC9):c.2699+1G>A
|
rs2131922149
|
|
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter)
|
rs786205595
|
|
NM_001160372.4(TRAPPC9):c.370_373dup (p.Val125fs)
|
rs1174482090
|
|
NM_001160372.4(TRAPPC9):c.531dup (p.Leu178fs)
|
rs1554689877
|
|
NM_001161403.3(LIMS2):c.661-2A>C
|
rs766965539
|
|
NM_001161403.3(LIMS2):c.968T>C (p.Leu323Pro)
|
rs869025562
|
|
NM_001161404.1(LIMS2):c.[261C>G;275C>T]
|
|
|
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)
|
rs770279237
|
|
NM_001165967.2(HES7):c.172A>G (p.Ile58Val)
|
rs387906979
|
|
NM_001165967.2(HES7):c.400_409dup (p.Arg137fs)
|
rs398122970
|
|
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)
|
rs113994160
|
|
NM_001166114.2(PNPLA6):c.2149G>C (p.Gly717Arg)
|
|
|
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)
|
rs606231167
|
|
NM_001171.5(ABCC6):c.2237_2238ins10 (p.?)
|
|
|
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter)
|
rs72650698
|
|
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.1192A>G (p.Ser398Gly)
|
rs72653764
|
|
NM_001171.6(ABCC6):c.1413del (p.Arg473fs)
|
rs1596687174
|
|
NM_001171.6(ABCC6):c.1609del (p.Val537fs)
|
rs1596678798
|
|
NM_001171.6(ABCC6):c.1674del (p.Glu559fs)
|
rs1313008538
|
|
NM_001171.6(ABCC6):c.1967_1989del (p.Gly656fs)
|
rs74315130
|
|
NM_001171.6(ABCC6):c.1987G>A (p.Gly663Ser)
|
rs72653780
|
|
NM_001171.6(ABCC6):c.1987G>T (p.Gly663Cys)
|
rs72653780
|
|
NM_001171.6(ABCC6):c.1996G>T (p.Gly666Trp)
|
rs72653781
|
|
NM_001171.6(ABCC6):c.1999del (p.Ala667fs)
|
rs72664227
|
|
NM_001171.6(ABCC6):c.2035G>T (p.Glu679Ter)
|
|
|
NM_001171.6(ABCC6):c.2093A>C (p.Gln698Pro)
|
rs72653783
|
|
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter)
|
rs72650701
|
|
NM_001171.6(ABCC6):c.2293C>T (p.Arg765Trp)
|
rs776513864
|
|
NM_001171.6(ABCC6):c.2297C>A (p.Ala766Asp)
|
rs72653789
|
|
NM_001171.6(ABCC6):c.2304C>A (p.Tyr768Ter)
|
rs66492417
|
|
NM_001171.6(ABCC6):c.2329G>A (p.Asp777Asn)
|
rs72653790
|
|
NM_001171.6(ABCC6):c.2338del (p.Leu780fs)
|
rs1596649191
|
|
NM_001171.6(ABCC6):c.2359G>T (p.Val787Phe)
|
rs72653792
|
|
NM_001171.6(ABCC6):c.2432C>G (p.Thr811Arg)
|
rs72653796
|
|
NM_001171.6(ABCC6):c.2432C>T (p.Thr811Met)
|
rs72653796
|
|
NM_001171.6(ABCC6):c.2738_2739del (p.Pro913fs)
|
|
|
NM_001171.6(ABCC6):c.2900G>A (p.Trp967Ter)
|
rs2046997344
|
|
NM_001171.6(ABCC6):c.3306+1del
|
rs797045078
|
|
NM_001171.6(ABCC6):c.3341G>C (p.Arg1114Pro)
|
rs63750427
|
|
NM_001171.6(ABCC6):c.3362C>T (p.Ser1121Leu)
|
rs63750987
|
|
NM_001171.6(ABCC6):c.3413G>C (p.Arg1138Pro)
|
rs60791294
|
|
NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His)
|
rs63749796
|
|
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs)
|
rs72664220
|
|
NM_001171.6(ABCC6):c.3775_3776insC (p.Trp1259fs)
|
rs1555507927
|
|
NM_001171.6(ABCC6):c.3892G>T (p.Val1298Phe)
|
rs63751325
|
|
NM_001171.6(ABCC6):c.4004T>A (p.Leu1335Gln)
|
rs63750414
|
|
NM_001171.6(ABCC6):c.4004T>C (p.Leu1335Pro)
|
rs63750414
|
|
NM_001171.6(ABCC6):c.4041G>C (p.Gln1347His)
|
rs63751111
|
|
NM_001171.6(ABCC6):c.4060G>C (p.Gly1354Arg)
|
rs63750018
|
|
NM_001171.6(ABCC6):c.4209-2A>C
|
rs1555506740
|
|
NM_001171.6(ABCC6):c.4213G>A (p.Gly1405Ser)
|
rs947230593
|
|
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys)
|
rs387906859
|
|
NM_001171.6(ABCC6):c.4243_4244insAGAA (p.Ala1415fs)
|
rs387906352
|
|
NM_001171.6(ABCC6):c.654G>T (p.Trp218Cys)
|
rs72653754
|
|
NM_001171.6(ABCC6):c.951C>G (p.Ser317Arg)
|
rs78678589
|
|
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT
|
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys)
|
rs1569077441
|
|
NM_001184.4(ATR):c.2022A>G (p.Gly674=)
|
rs587776690
|
|
NM_001184.4(ATR):c.3477G>T (p.Met1159Ile)
|
rs587777851
|
|
NM_001184.4(ATR):c.4641+1G>T
|
rs797045403
|
|
NM_001190818.1(ORC1):c.2392-249_*3804del
|
|
|
NM_001194998.1(CEP152):c.[3676_3678delAAC;3149T>C]
|
|
|
NM_001194998.2(CEP152):c.2034_2036del (p.Tyr678_Gln679delinsTer)
|
rs754565020
|
|
NM_001194998.2(CEP152):c.261+1G>C
|
rs966888627
|
|
NM_001194998.2(CEP152):c.2679del (p.Ser894fs)
|
rs587783421
|
|
NM_001194998.2(CEP152):c.2694+1G>T
|
rs1349385657
|
|
NM_001194998.2(CEP152):c.2920C>T (p.Gln974Ter)
|
|
|
NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs)
|
rs869312853
|
|
NM_001194998.2(CEP152):c.3016del (p.Thr1006fs)
|
rs587783423
|
|
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter)
|
rs1342429887
|
|
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)
|
rs1555418825
|
|
NM_001194998.2(CEP152):c.3948_3949insGGCGCAAATATTATTTG (p.Ile1317delinsGlyAlaAsnIleIleTer)
|
|
|
NM_001194998.2(CEP152):c.4136C>A (p.Ser1379Ter)
|
rs1376927760
|
|
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs)
|
rs141600901
|
|
NM_001194998.2(CEP152):c.467dup (p.Gln157fs)
|
rs1208144689
|
|
NM_001194998.2(CEP152):c.5070_5073del (p.Ile1691fs)
|
|
|
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)
|
rs1564634581
|
|
NM_001195263.2(PDZD7):c.1207del (p.His403fs)
|
rs1554835103
|
|
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter)
|
rs953422571
|
|
NM_001195263.2(PDZD7):c.1576C>T (p.Gln526Ter)
|
rs1554834186
|
|
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter)
|
rs1554834161
|
|
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)
|
rs587776894
|
|
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu)
|
rs1426679303
|
|
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)
|
rs397516633
|
|
NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr)
|
rs773193491
|
|
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)
|
rs148695069
|
|
NM_001195263.2(PDZD7):c.668del (p.Gly223fs)
|
|
|
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.1078del (p.Arg360fs)
|
|
|
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter)
|
rs1567413218
|
|
NM_001199107.2(TBC1D24):c.1141dup (p.Arg381fs)
|
rs1205407936
|
|
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter)
|
rs2065771024
|
|
NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro)
|
rs770363653
|
|
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val)
|
rs773916549
|
|
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His)
|
rs760474458
|
|
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)
|
rs1057524191
|
|
NM_001199107.2(TBC1D24):c.1306C>T (p.Gln436Ter)
|
|
|
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter)
|
rs1567411053
|
|
NM_001199107.2(TBC1D24):c.132G>A (p.Trp44Ter)
|
|
|
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs)
|
rs1292551263
|
|
NM_001199107.2(TBC1D24):c.1384G>T (p.Glu462Ter)
|
|
|
NM_001199107.2(TBC1D24):c.1397del (p.Pro466fs)
|
rs2141877166
|
|
NM_001199107.2(TBC1D24):c.1402_1409dup (p.Ser472fs)
|
|
|
NM_001199107.2(TBC1D24):c.1488del (p.Met497fs)
|
|
|
NM_001199107.2(TBC1D24):c.1505dup (p.Ser503fs)
|
|
|
NM_001199107.2(TBC1D24):c.1540C>T (p.Gln514Ter)
|
rs746057710
|
|
NM_001199107.2(TBC1D24):c.1574del (p.Gly525fs)
|
|
|
NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp)
|
rs1060502501
|
|
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer)
|
rs1555501140
|
|
NM_001199107.2(TBC1D24):c.194G>T (p.Arg65Leu)
|
rs878853232
|
|
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr)
|
rs587777147
|
|
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1])
|
rs761918906
|
|
NM_001199107.2(TBC1D24):c.270_286del (p.Pro91fs)
|
|
|
NM_001199107.2(TBC1D24):c.309dup (p.Tyr104fs)
|
|
|
NM_001199107.2(TBC1D24):c.337dup (p.Ala113fs)
|
|
|
NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter)
|
rs1567411469
|
|
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His)
|
rs267607103
|
|
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter)
|
rs763626059
|
|
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter)
|
rs397514714
|
|
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs)
|
rs796053403
|
|
NM_001199107.2(TBC1D24):c.540C>A (p.Cys180Ter)
|
|
|
NM_001199107.2(TBC1D24):c.56del (p.Ile19fs)
|
rs2141870681
|
|
NM_001199107.2(TBC1D24):c.636G>A (p.Trp212Ter)
|
rs2141872114
|
|
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs)
|
rs2141872119
|
|
NM_001199107.2(TBC1D24):c.668_669delinsAA (p.Cys223Ter)
|
|
|
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser)
|
rs397514713
|
|
NM_001199107.2(TBC1D24):c.715del (p.Val239fs)
|
rs2141872348
|
|
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs)
|
rs766769998
|
|
NM_001199107.2(TBC1D24):c.806del (p.Ile269fs)
|
rs2141872499
|
|
NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro)
|
rs199700840
|
|
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His)
|
rs1555501320
|
|
NM_001199107.2(TBC1D24):c.965+1G>A
|
rs1390045914
|
|
NM_001199107.2(TBC1D24):c.979A>T (p.Lys327Ter)
|
rs2065755770
|
|
NM_001199563.2(BVES):c.457C>T (p.Gln153Ter)
|
rs1562137622
|
|
NM_001199563.2(BVES):c.578T>G (p.Ile193Ser)
|
rs2114489353
|
|
NM_001199563.2(BVES):c.602C>T (p.Ser201Phe)
|
rs869025337
|
|
NM_001199563.2(BVES):c.816+2T>C
|
rs1562133291
|
|
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs)
|
rs1226171550
|
|
NM_001199799.2(ILDR1):c.1135G>T (p.Glu379Ter)
|
rs387907015
|
|
NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)
|
|
|
NM_001199799.2(ILDR1):c.294del (p.Val99fs)
|
rs2071591086
|
|
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile)
|
rs387907016
|
|
NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter)
|
rs387907017
|
|
NM_001199799.2(ILDR1):c.643G>T (p.Glu215Ter)
|
rs1559875009
|
|
NM_001199799.2(ILDR1):c.820C>T (p.Gln274Ter)
|
rs2107644932
|
|
NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser)
|
rs1553941890
|
|
NM_001205254.2(OCLN):c.1037+5G>A
|
rs797045840
|
|
NM_001205254.2(OCLN):c.171_193del (p.Lys57fs)
|
rs1561334604
|
|
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs)
|
rs797045841
|
|
NM_001205254.2(OCLN):c.512dup (p.Tyr171Ter)
|
rs749237456
|
|
NM_001205254.2(OCLN):c.513C>A (p.Tyr171Ter)
|
rs1390469424
|
|
NM_001205254.2(OCLN):c.52_891del (p.Lys18_Trp297del)
|
|
|
NM_001205254.2(OCLN):c.656T>C (p.Phe219Ser)
|
rs267606926
|
|
NM_001206999.2(CIT):c.1111+1G>A
|
rs879255522
|
|
NM_001206999.2(CIT):c.29_38del (p.Asn10fs)
|
rs879253817
|
|
NM_001206999.2(CIT):c.317G>T (p.Gly106Val)
|
rs886037892
|
|
NM_001206999.2(CIT):c.376A>C (p.Lys126Gln)
|
rs886037893
|
|
NM_001206999.2(CIT):c.4617del (p.Asp1541fs)
|
rs2137067282
|
|
NM_001206999.2(CIT):c.473C>G (p.Pro158Arg)
|
rs879255524
|
|
NM_001206999.2(CIT):c.689A>T (p.Asp230Val)
|
rs886037894
|
|
NM_001206999.2(CIT):c.753+3A>T
|
rs886037895
|
|
NM_001206999.2(CIT):c.957+1G>T
|
rs1968060326
|
|
NM_001218.5(CA12):c.363C>A (p.His121Gln)
|
rs775067652
|
|
NM_001218.5(CA12):c.859_860insACCT (p.Thr287fs)
|
rs879253800
|
|
NM_001242882.2(NAXD):c.102_103del (p.Thr35fs)
|
|
|
NM_001242882.2(NAXD):c.187G>A (p.Gly63Ser)
|
rs1566614549
|
|
NM_001242882.2(NAXD):c.318C>G (p.Ile106Met)
|
rs201720770
|
|
NM_001242882.2(NAXD):c.44del (p.Arg15fs)
|
rs1886017689
|
|
NM_001242882.2(NAXD):c.46G>A (p.Val16Ile)
|
rs1886017898
|
|
NM_001242882.2(NAXD):c.54_57del (p.Ala20fs)
|
rs773887880
|
|
NM_001242882.2(NAXD):c.839+1G>T
|
rs1566623786
|
|
NM_001242908.2(RSPO1):c.-288-413_94+1957del
|
|
|
NM_001242908.2(RSPO1):c.108dup (p.Ser37Glufs*9)
|
rs2148163144
|
|
NM_001243766.2(POMGNT1):c.-50-671_-50-663dup
|
rs966546165
|
|
NM_001254.4(CDC6):c.968C>G (p.Thr323Arg)
|
rs387906842
|
|
NM_001256317.3(TMPRSS3):c.1048+1G>A
|
rs1429442821
|
|
NM_001256317.3(TMPRSS3):c.1192-1G>C
|
rs1601514990
|
|
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg)
|
rs773780151
|
|
NM_001256317.3(TMPRSS3):c.147dup (p.Pro50fs)
|
rs2146452391
|
|
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)
|
rs727503493
|
|
NM_001256317.3(TMPRSS3):c.308A>G (p.Asp103Gly)
|
rs387906915
|
|
NM_001256317.3(TMPRSS3):c.323-6G>A
|
rs374793617
|
|
NM_001256317.3(TMPRSS3):c.400A>T (p.Lys134Ter)
|
rs2052672053
|
|
NM_001256317.3(TMPRSS3):c.582T>A (p.Cys194Ter)
|
rs1060499811
|
|
NM_001256317.3(TMPRSS3):c.749del (p.Leu250fs)
|
rs2146436212
|
|
NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys)
|
rs137852999
|
|
NM_001256317.3(TMPRSS3):c.783-1G>T
|
rs1237955948
|
|
NM_001256317.3(TMPRSS3):c.999del (p.Asp334fs)
|
|
|
NM_001257308.2(MINAR2):c.144G>A (p.Trp48Ter)
|
|
|
NM_001257308.2(MINAR2):c.393G>T (p.Lys131Asn)
|
|
|
NM_001257308.2(MINAR2):c.412_419del (p.Arg138fs)
|
|
|
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs)
|
rs878854281
|
|
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)
|
rs1057518195
|
|
NM_001267550.2(TTN):c.10115-1G>A
|
rs2088245783
|
|
NM_001267550.2(TTN):c.101789del (p.Leu33930fs)
|
rs1575285509
|
|
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)
|
rs752697861
|
|
NM_001267550.2(TTN):c.103354C>T (p.Gln34452Ter)
|
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.103737_103738insCA (p.Met34580fs)
|
rs2154134687
|
|
NM_001267550.2(TTN):c.103749del (p.Lys34583fs)
|
rs1689787372
|
|
NM_001267550.2(TTN):c.104269C>T (p.Gln34757Ter)
|
rs2154134221
|
|
NM_001267550.2(TTN):c.104509_104510del (p.Leu34837fs)
|
|
|
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)
|
rs534484592
|
|
NM_001267550.2(TTN):c.105520del (p.Arg35174fs)
|
rs1688921542
|
|
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs)
|
rs199469665
|
|
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter)
|
rs886044460
|
|
NM_001267550.2(TTN):c.106358G>A (p.Trp35453Ter)
|
rs922408768
|
|
NM_001267550.2(TTN):c.106375-2A>G
|
rs1553482872
|
|
NM_001267550.2(TTN):c.106531+1G>A
|
rs760915007
|
|
NM_001267550.2(TTN):c.106541del (p.Asp35514fs)
|
rs2154131647
|
|
NM_001267550.2(TTN):c.106629del (p.Ala35544fs)
|
rs869312069
|
|
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs)
|
rs794727544
|
|
NM_001267550.2(TTN):c.107224-1G>C
|
rs112720067
|
|
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter)
|
rs1575185742
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
|
rs281864927
|
|
NM_001267550.2(TTN):c.107788T>C (p.Trp35930Arg)
|
rs1018591024
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.12870dup (p.Val4291fs)
|
rs869025556
|
|
NM_001267550.2(TTN):c.15496+1G>A
|
rs397517481
|
|
NM_001267550.2(TTN):c.15496+1G>T
|
rs397517481
|
|
NM_001267550.2(TTN):c.2370+2T>C
|
rs1574817395
|
|
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs)
|
rs2093000714
|
|
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs)
|
rs777924443
|
|
NM_001267550.2(TTN):c.29963-1G>C
|
rs1560513651
|
|
NM_001267550.2(TTN):c.34253_34277del (p.Leu11418fs)
|
rs1373610867
|
|
NM_001267550.2(TTN):c.34922del (p.Pro11641fs)
|
rs1553809971
|
|
NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter)
|
rs557526069
|
|
NM_001267550.2(TTN):c.35756del (p.Pro11919fs)
|
rs1241310204
|
|
NM_001267550.2(TTN):c.39109G>T (p.Glu13037Ter)
|
|
|
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs)
|
rs2154244761
|
|
NM_001267550.2(TTN):c.40409-2A>C
|
rs1560046529
|
|
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)
|
rs587780488
|
|
NM_001267550.2(TTN):c.41118del (p.Phe13706fs)
|
rs878854305
|
|
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter)
|
rs869312043
|
|
NM_001267550.2(TTN):c.46455del (p.Pro15486fs)
|
rs2154210615
|
|
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs)
|
rs886039125
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter)
|
rs2154209202
|
|
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)
|
rs751502842
|
|
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter)
|
rs754866489
|
|
NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs)
|
rs1576402791
|
|
NM_001267550.2(TTN):c.51436+1G>T
|
rs761807131
|
|
NM_001267550.2(TTN):c.51436+2T>C
|
|
|
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer)
|
rs794729323
|
|
NM_001267550.2(TTN):c.53393del (p.Gly17798fs)
|
rs794729324
|
|
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)
|
rs727503607
|
|
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter)
|
rs1553682168
|
|
NM_001267550.2(TTN):c.54190+1G>A
|
rs756339648
|
|
NM_001267550.2(TTN):c.54190+1G>T
|
|
|
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter)
|
rs1440093502
|
|
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)
|
rs72646831
|
|
NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter)
|
rs72646837
|
|
NM_001267550.2(TTN):c.59926+1G>A
|
rs553526525
|
|
NM_001267550.2(TTN):c.59926+1G>C
|
|
|
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter)
|
rs1553644307
|
|
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter)
|
rs2050116026
|
|
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter)
|
rs869312112
|
|
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter)
|
rs757231565
|
|
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)
|
rs543860009
|
|
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter)
|
rs769345390
|
|
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs)
|
rs1559561666
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)
|
rs1553636324
|
|
NM_001267550.2(TTN):c.64252_64253insGAGTA (p.Tyr21418Ter)
|
|
|
NM_001267550.2(TTN):c.64397-2del
|
|
|
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter)
|
rs768345594
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
NM_001267550.2(TTN):c.6564dup (p.Asp2189fs)
|
|
|
NM_001267550.2(TTN):c.66769+2T>A
|
rs1060500483
|
|
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter)
|
rs1200988060
|
|
NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter)
|
rs1403485272
|
|
NM_001267550.2(TTN):c.68286_68289dup (p.Trp22764fs)
|
rs2154174801
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)
|
rs371678190
|
|
NM_001267550.2(TTN):c.68463_68466dup (p.Leu22823fs)
|
|
|
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter)
|
rs878854328
|
|
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)
|
rs781540455
|
|
NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter)
|
rs1559446852
|
|
NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter)
|
rs1553612386
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter)
|
rs794729285
|
|
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer)
|
rs1064796390
|
|
NM_001267550.2(TTN):c.74444del (p.Pro24815fs)
|
|
|
NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter)
|
rs781459488
|
|
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs)
|
rs794729340
|
|
NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter)
|
rs1553603394
|
|
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)
|
rs1553603152
|
|
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)
|
rs1553603036
|
|
NM_001267550.2(TTN):c.75663del (p.Lys25221fs)
|
rs1131691542
|
|
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter)
|
rs767450912
|
|
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs)
|
|
|
NM_001267550.2(TTN):c.77646del (p.Ile25883fs)
|
rs2154167034
|
|
NM_001267550.2(TTN):c.78095_78098del (p.Arg26032fs)
|
rs869312117
|
|
NM_001267550.2(TTN):c.78855_78858del (p.Arg26286fs)
|
rs794729346
|
|
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter)
|
rs779996703
|
|
NM_001267550.2(TTN):c.79096A>T (p.Lys26366Ter)
|
|
|
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter)
|
rs774411587
|
|
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)
|
rs869025545
|
|
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter)
|
rs2154165062
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
NM_001267550.2(TTN):c.81942del (p.Glu27315fs)
|
|
|
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter)
|
rs886042331
|
|
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.83515C>T (p.Arg27839Ter)
|
rs869312118
|
|
NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter)
|
rs72648222
|
|
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs)
|
rs869312100
|
|
NM_001267550.2(TTN):c.85011_85014del (p.Glu28338fs)
|
rs2154159327
|
|
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)
|
rs748689777
|
|
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs)
|
rs1285329277
|
|
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter)
|
rs794729384
|
|
NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter)
|
rs1064793814
|
|
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs)
|
rs794729354
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
NM_001267550.2(TTN):c.86821+1G>A
|
rs1702741860
|
|
NM_001267550.2(TTN):c.87355del (p.Ala29119fs)
|
rs794729356
|
|
NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter)
|
rs1060500586
|
|
NM_001267550.2(TTN):c.87624C>G (p.Tyr29208Ter)
|
|
|
NM_001267550.2(TTN):c.88462dup (p.Cys29488fs)
|
rs2154153413
|
|
NM_001267550.2(TTN):c.88594+1G>T
|
rs794727467
|
|
NM_001267550.2(TTN):c.89197+2T>G
|
rs1575536935
|
|
NM_001267550.2(TTN):c.9163+1G>C
|
rs1060500549
|
|
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)
|
rs1698600051
|
|
NM_001267550.2(TTN):c.92812dup (p.Arg30938fs)
|
rs1559173391
|
|
NM_001267550.2(TTN):c.93088del (p.Arg31030fs)
|
rs2154147488
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs)
|
rs769488730
|
|
NM_001267550.2(TTN):c.94127dup (p.Tyr31376Ter)
|
|
|
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs)
|
rs727503546
|
|
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
|
rs869320740
|
|
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)
|
rs869320742
|
|
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter)
|
rs780414947
|
|
NM_001267550.2(TTN):c.95351C>T (p.Ala31784Val)
|
rs1553520967
|
|
NM_001267550.2(TTN):c.95370_95387del (p.Gly31791_Ser31796del)
|
|
|
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp)
|
rs869320744
|
|
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)
|
rs746115846
|
|
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
|
|
|
NM_001267550.2(TTN):c.97492+1G>A
|
rs727505319
|
|
NM_001267550.2(TTN):c.97492+1G>C
|
rs727505319
|
|
NM_001267550.2(TTN):c.97492+1G>T
|
rs727505319
|
|
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)
|
rs727504535
|
|
NM_001267727.2(ARSG):c.1024C>T (p.Arg342Trp)
|
|
|
NM_001267727.2(ARSG):c.1212+1G>A
|
|
|
NM_001267727.2(ARSG):c.1270C>T (p.Arg424Cys)
|
rs751663413
|
|
NM_001267727.2(ARSG):c.1326del (p.Ser443fs)
|
rs751461705
|
|
NM_001267727.2(ARSG):c.133G>T (p.Asp45Tyr)
|
rs1568445893
|
|
NM_001267727.2(ARSG):c.275T>C (p.Leu92Pro)
|
|
|
NM_001267727.2(ARSG):c.588C>A (p.Tyr196Ter)
|
|
|
NM_001267727.2(ARSG):c.705-3940_982+2952del
|
|
|
NM_001271838.2(RSRC1):c.268C>T (p.Arg90Ter)
|
rs1183090232
|
|
NM_001271838.2(RSRC1):c.3G>T (p.Met1Ile)
|
rs1335486803
|
|
NM_001271838.2(RSRC1):c.441_447dup (p.Glu150fs)
|
rs2108279740
|
|
NM_001271838.2(RSRC1):c.532-1G>A
|
rs754550509
|
|
NM_001278064.1(GRM1):c.[2652_2654delGAA;2660+2T>C]
|
|
|
NM_001278064.2(GRM1):c.1360C>T (p.Leu454Phe)
|
rs988699004
|
|
NM_001278064.2(GRM1):c.1715del (p.Asn572fs)
|
|
|
NM_001278064.2(GRM1):c.26dup (p.Ala11fs)
|
rs758809498
|
|
NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)
|
|
|
NM_001278293.3(ARL6):c.127C>T (p.Gln43Ter)
|
|
|
NM_001278293.3(ARL6):c.185+1G>C
|
rs1559679965
|
|
NM_001278293.3(ARL6):c.188T>A (p.Leu63Ter)
|
|
|
NM_001278293.3(ARL6):c.1A>G (p.Met1Val)
|
rs2107977736
|
|
NM_001278293.3(ARL6):c.228C>A (p.Tyr76Ter)
|
|
|
NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter)
|
rs2037147164
|
|
NM_001278293.3(ARL6):c.252T>G (p.Tyr84Ter)
|
|
|
NM_001278293.3(ARL6):c.262C>T (p.Gln88Ter)
|
|
|
NM_001278293.3(ARL6):c.302G>T (p.Arg101Ile)
|
|
|
NM_001278293.3(ARL6):c.351_353delinsGAAAA (p.Asp117fs)
|
rs1057515576
|
|
NM_001278293.3(ARL6):c.373dup (p.Ile125fs)
|
rs2037541934
|
|
NM_001278293.3(ARL6):c.406_409del (p.Asp136fs)
|
|
|
NM_001278293.3(ARL6):c.469del (p.Trp157fs)
|
|
|
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)
|
rs771628868
|
|
NM_001278293.3(ARL6):c.506del (p.Gly169fs)
|
rs1402463567
|
|
NM_001278293.3(ARL6):c.509T>G (p.Leu170Trp)
|
rs104893681
|
|
NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys)
|
rs2037751886
|
|
NM_001278293.3(ARL6):c.534A>G (p.Gln178=)
|
|
|
NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn)
|
rs2037752645
|
|
NM_001278293.3(ARL6):c.66C>A (p.Cys22Ter)
|
|
|
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)
|
rs104893680
|
|
NM_001283009.2(RTEL1):c.1001_1014del (p.Leu334fs)
|
rs1601133145
|
|
NM_001283009.2(RTEL1):c.1103C>A (p.Ser368Ter)
|
|
|
NM_001283009.2(RTEL1):c.1111C>T (p.Gln371Ter)
|
|
|
NM_001283009.2(RTEL1):c.1120C>T (p.Gln374Ter)
|
|
|
NM_001283009.2(RTEL1):c.1194del (p.Ile398fs)
|
rs2145411193
|
|
NM_001283009.2(RTEL1):c.1216del (p.Glu406fs)
|
rs2145411302
|
|
NM_001283009.2(RTEL1):c.1244dup (p.Ala417fs)
|
rs2145411399
|
|
NM_001283009.2(RTEL1):c.1263T>A (p.Tyr421Ter)
|
rs2145411479
|
|
NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)
|
|
|
NM_001283009.2(RTEL1):c.1367G>A (p.Trp456Ter)
|
|
|
NM_001283009.2(RTEL1):c.1419dup (p.Ser474fs)
|
|
|
NM_001283009.2(RTEL1):c.1458del (p.Ser487fs)
|
rs2090629495
|
|
NM_001283009.2(RTEL1):c.1603G>T (p.Glu535Ter)
|
rs1367858373
|
|
NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter)
|
rs2090639016
|
|
NM_001283009.2(RTEL1):c.1682_1686del (p.Pro561fs)
|
|
|
NM_001283009.2(RTEL1):c.1699G>T (p.Glu567Ter)
|
|
|
NM_001283009.2(RTEL1):c.1773G>T (p.Glu591Asp)
|
rs398123051
|
|
NM_001283009.2(RTEL1):c.1778_1781dup (p.Ser594fs)
|
|
|
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)
|
|
|
NM_001283009.2(RTEL1):c.1861G>A (p.Ala621Thr)
|
rs398123052
|
|
NM_001283009.2(RTEL1):c.1890dup (p.Leu631fs)
|
rs2145427564
|
|
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter)
|
rs368311594
|
|
NM_001283009.2(RTEL1):c.1910del (p.Asn637fs)
|
|
|
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs)
|
rs1555811742
|
|
NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter)
|
rs2090682958
|
|
NM_001283009.2(RTEL1):c.2045G>A (p.Trp682Ter)
|
|
|
NM_001283009.2(RTEL1):c.2046G>A (p.Trp682Ter)
|
|
|
NM_001283009.2(RTEL1):c.2080del (p.Ala694fs)
|
|
|
NM_001283009.2(RTEL1):c.2097C>G (p.Ile699Met)
|
rs398123048
|
|
NM_001283009.2(RTEL1):c.2098del (p.Arg700fs)
|
rs2090684427
|
|
NM_001283009.2(RTEL1):c.2141+5G>A
|
rs398123050
|
|
NM_001283009.2(RTEL1):c.2197_2198del (p.Arg733fs)
|
|
|
NM_001283009.2(RTEL1):c.2200del (p.Val734fs)
|
|
|
NM_001283009.2(RTEL1):c.2216G>T (p.Gly739Val)
|
rs398123016
|
|
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter)
|
rs2145430878
|
|
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met)
|
rs398123049
|
|
NM_001283009.2(RTEL1):c.2239C>T (p.Gln747Ter)
|
rs2145430921
|
|
NM_001283009.2(RTEL1):c.2270del (p.Pro757fs)
|
rs2145431569
|
|
NM_001283009.2(RTEL1):c.2287dup (p.Ala763fs)
|
|
|
NM_001283009.2(RTEL1):c.2295del (p.Ser767fs)
|
|
|
NM_001283009.2(RTEL1):c.2387del (p.Val796fs)
|
rs2145432198
|
|
NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter)
|
|
|
NM_001283009.2(RTEL1):c.2461G>T (p.Glu821Ter)
|
rs2090722556
|
|
NM_001283009.2(RTEL1):c.2468del (p.Glu823fs)
|
|
|
NM_001283009.2(RTEL1):c.2485C>T (p.Gln829Ter)
|
rs1278121916
|
|
NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter)
|
rs2145434954
|
|
NM_001283009.2(RTEL1):c.2575_2576del (p.Leu859fs)
|
|
|
NM_001283009.2(RTEL1):c.2584_2593del (p.Leu862fs)
|
rs2145439154
|
|
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs)
|
rs752833281
|
|
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs)
|
rs1555812480
|
|
NM_001283009.2(RTEL1):c.2653G>T (p.Glu885Ter)
|
rs2090784564
|
|
NM_001283009.2(RTEL1):c.2671_2686del (p.Ala891fs)
|
rs2145445706
|
|
NM_001283009.2(RTEL1):c.2713C>T (p.Gln905Ter)
|
|
|
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter)
|
rs866637461
|
|
NM_001283009.2(RTEL1):c.2749C>T (p.Gln917Ter)
|
|
|
NM_001283009.2(RTEL1):c.2750del (p.Gln917fs)
|
|
|
NM_001283009.2(RTEL1):c.2783_2784del (p.Phe928fs)
|
|
|
NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)
|
|
|
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs)
|
rs1449687529
|
|
NM_001283009.2(RTEL1):c.2818del (p.Ala940fs)
|
|
|
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter)
|
rs906116592
|
|
NM_001283009.2(RTEL1):c.2850del (p.Gly951fs)
|
rs2090792717
|
|
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter)
|
rs1555813144
|
|
NM_001283009.2(RTEL1):c.2887C>T (p.Gln963Ter)
|
|
|
NM_001283009.2(RTEL1):c.2924del (p.Gly975fs)
|
|
|
NM_001283009.2(RTEL1):c.2932_2944del (p.Tyr978fs)
|
rs2090805858
|
|
NM_001283009.2(RTEL1):c.2933_2936dup (p.Pro980fs)
|
|
|
NM_001283009.2(RTEL1):c.2940_2956del (p.Glu981fs)
|
|
|
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs)
|
rs1285014916
|
|
NM_001283009.2(RTEL1):c.2988del (p.Thr997fs)
|
|
|
NM_001283009.2(RTEL1):c.3043C>T (p.Gln1015Ter)
|
rs777109448
|
|
NM_001283009.2(RTEL1):c.3058G>T (p.Glu1020Ter)
|
rs771746222
|
|
NM_001283009.2(RTEL1):c.3074_3096del (p.Gly1025fs)
|
rs2145471381
|
|
NM_001283009.2(RTEL1):c.3124C>T (p.Gln1042Ter)
|
rs929898540
|
|
NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs)
|
rs1555814207
|
|
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter)
|
rs2090929102
|
|
NM_001283009.2(RTEL1):c.3289del (p.Ala1097fs)
|
rs2090933372
|
|
NM_001283009.2(RTEL1):c.329_332del (p.Ile110fs)
|
rs2146150691
|
|
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs)
|
rs1555814334
|
|
NM_001283009.2(RTEL1):c.3389dup (p.Thr1131fs)
|
rs2145477500
|
|
NM_001283009.2(RTEL1):c.3514G>T (p.Glu1172Ter)
|
|
|
NM_001283009.2(RTEL1):c.3525del (p.Lys1176fs)
|
|
|
NM_001283009.2(RTEL1):c.3553del (p.Arg1186fs)
|
rs1363124795
|
|
NM_001283009.2(RTEL1):c.3559_3562del (p.Gln1187fs)
|
|
|
NM_001283009.2(RTEL1):c.3610C>T (p.Gln1204Ter)
|
|
|
NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter)
|
rs2090027846
|
|
NM_001283009.2(RTEL1):c.3672_3673del (p.Ile1225fs)
|
rs2145480213
|
|
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs)
|
rs1363658406
|
|
NM_001283009.2(RTEL1):c.3730_3731del (p.Cys1244fs)
|
rs1316931773
|
|
NM_001283009.2(RTEL1):c.3775_3776del (p.Ala1259fs)
|
rs2145480909
|
|
NM_001283009.2(RTEL1):c.3776_3779del (p.Ala1259fs)
|
rs764058481
|
|
NM_001283009.2(RTEL1):c.3787C>T (p.Gln1263Ter)
|
rs2145480992
|
|
NM_001283009.2(RTEL1):c.440_443dup (p.Glu149fs)
|
rs2146153920
|
|
NM_001283009.2(RTEL1):c.46C>T (p.Gln16Ter)
|
rs2146141455
|
|
NM_001283009.2(RTEL1):c.475C>T (p.Gln159Ter)
|
rs2090043175
|
|
NM_001283009.2(RTEL1):c.4_46dup (p.Gln16fs)
|
rs2146141304
|
|
NM_001283009.2(RTEL1):c.535G>T (p.Glu179Ter)
|
rs1555899932
|
|
NM_001283009.2(RTEL1):c.61C>T (p.Gln21Ter)
|
|
|
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)
|
rs780546933
|
|
NM_001283009.2(RTEL1):c.72C>G (p.Tyr24Ter)
|
|
|
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys)
|
rs398123019
|
|
NM_001283009.2(RTEL1):c.836_837del (p.Ile279fs)
|
rs2146197831
|
|
NM_001283009.2(RTEL1):c.850G>T (p.Glu284Ter)
|
|
|
NM_001283009.2(RTEL1):c.897del (p.Phe299fs)
|
rs1555901832
|
|
NM_001283009.2(RTEL1):c.984del (p.Ile329fs)
|
rs2146211234
|
|
NM_001286445.3(RIPOR2):c.1633_1644del (p.Gln545_Lys548del)
|
rs760676508
|
|
NM_001286445.3(RIPOR2):c.189-1G>A
|
rs875989828
|
|
NM_001287.6(CLCN7):c.1617+119G>A
|
rs922106856
|
|
NM_001287.6(CLCN7):c.1663C>T (p.Gln555Ter)
|
rs121434432
|
|
NM_001287.6(CLCN7):c.2250+1G>T
|
rs1567263375
|
|
NM_001287.6(CLCN7):c.2285G>A (p.Arg762Gln)
|
rs121434433
|
|
NM_001287.6(CLCN7):c.2297T>C (p.Leu766Pro)
|
rs121434434
|
|
NM_001287.6(CLCN7):c.2385_2386del (p.Gly796fs)
|
rs2142364275
|
|
NM_001287.6(CLCN7):c.781A>T (p.Ile261Phe)
|
rs121434436
|
|
NM_001287.6(CLCN7):c.892dup (p.Ser298fs)
|
|
|
NM_001288951.1(TTC7A):c.[1616C>T];[2587G>A]
|
|
|
NM_001288953.1(TTC7A):c.[1715A>G;1912T>C]
|
|
|
NM_001292063.2(OTOG):c.1410_1411del (p.Tyr471fs)
|
rs2134009776
|
|
NM_001292063.2(OTOG):c.2119dup (p.Glu707fs)
|
rs778222536
|
|
NM_001292063.2(OTOG):c.2523T>A (p.Tyr841Ter)
|
|
|
NM_001292063.2(OTOG):c.3546C>A (p.Tyr1182Ter)
|
|
|
NM_001292063.2(OTOG):c.4309C>T (p.Gln1437Ter)
|
rs1853463147
|
|
NM_001292063.2(OTOG):c.4380del (p.Thr1461fs)
|
rs2134088808
|
|
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
|
|
|
NM_001292063.2(OTOG):c.5472del (p.Ala1826fs)
|
rs1029389440
|
|
NM_001292063.2(OTOG):c.6068del (p.Gly2023fs)
|
rs1416960576
|
|
NM_001292063.2(OTOG):c.6311C>T (p.Pro2104Leu)
|
rs397514607
|
|
NM_001292063.2(OTOG):c.6453G>A (p.Trp2151Ter)
|
|
|
NM_001292063.2(OTOG):c.6469del (p.Leu2156_Val2157insTer)
|
|
|
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs)
|
rs1157646266
|
|
NM_001292063.2(OTOG):c.7686C>G (p.Tyr2562Ter)
|
|
|
NM_001312673.2(PCYT1A):c.471C>G (p.Phe157Leu)
|
rs1577358031
|
|
NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter)
|
rs1603251001
|
|
NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn)
|
rs2143821228
|
|
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)
|
rs1603251494
|
|
NM_001329943.3(KIAA0586):c.1075_1076del (p.Lys359fs)
|
rs2140706563
|
|
NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs)
|
|
|
NM_001329943.3(KIAA0586):c.1093del (p.Glu365fs)
|
rs1232900431
|
|
NM_001329943.3(KIAA0586):c.1193del (p.Ser398fs)
|
|
|
NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter)
|
rs1301378192
|
|
NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter)
|
|
|
NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs)
|
|
|
NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)
|
|
|
NM_001329943.3(KIAA0586):c.1466_1476del (p.Lys489fs)
|
rs2140844892
|
|
NM_001329943.3(KIAA0586):c.1645del (p.Ala549fs)
|
|
|
NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)
|
|
|
NM_001329943.3(KIAA0586):c.1667dup (p.Arg557fs)
|
rs2140873534
|
|
NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter)
|
rs2040187420
|
|
NM_001329943.3(KIAA0586):c.1743dup (p.Ile582fs)
|
|
|
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter)
|
rs1566827747
|
|
NM_001329943.3(KIAA0586):c.1872del (p.Glu625fs)
|
rs2140875258
|
|
NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs)
|
|
|
NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs)
|
|
|
NM_001329943.3(KIAA0586):c.1935del (p.Val646fs)
|
rs2140886312
|
|
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)
|
rs797045119
|
|
NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs)
|
rs2140887842
|
|
NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)
|
|
|
NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)
|
|
|
NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs)
|
|
|
NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter)
|
rs2140372917
|
|
NM_001329943.3(KIAA0586):c.2800del (p.Thr934fs)
|
|
|
NM_001329943.3(KIAA0586):c.2810del (p.Asn937fs)
|
|
|
NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs)
|
|
|
NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter)
|
|
|
NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs)
|
|
|
NM_001329943.3(KIAA0586):c.3353del (p.Pro1118fs)
|
rs2141193077
|
|
NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)
|
|
|
NM_001329943.3(KIAA0586):c.3638del (p.Pro1213fs)
|
rs2141202895
|
|
NM_001329943.3(KIAA0586):c.3718_3719del (p.Leu1240fs)
|
|
|
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)
|
|
|
NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter)
|
|
|
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs)
|
rs745949846
|
|
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs)
|
rs745949846
|
|
NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs)
|
rs886039809
|
|
NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs)
|
rs762932867
|
|
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs)
|
rs867342730
|
|
NM_001329943.3(KIAA0586):c.411-1371G>A
|
rs2038350104
|
|
NM_001329943.3(KIAA0586):c.411-1455_411-1454insGG
|
|
|
NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs)
|
|
|
NM_001329943.3(KIAA0586):c.4225del (p.Glu1409fs)
|
rs2141430525
|
|
NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4350dup (p.Lys1451Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs)
|
|
|
NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter)
|
rs2140098022
|
|
NM_001329943.3(KIAA0586):c.4495+3755del
|
rs2140128017
|
|
NM_001329943.3(KIAA0586):c.4495+3767A>T
|
rs2140128191
|
|
NM_001329943.3(KIAA0586):c.465del (p.Gly156fs)
|
|
|
NM_001329943.3(KIAA0586):c.622dup (p.Thr208fs)
|
rs2140565674
|
|
NM_001329943.3(KIAA0586):c.653_663del (p.Asp218fs)
|
|
|
NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter)
|
rs376338487
|
|
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs)
|
rs1203751352
|
|
NM_001329943.3(KIAA0586):c.938del (p.Tyr313fs)
|
rs2140664007
|
|
NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter)
|
|
|
NM_001329943.3(KIAA0586):c.961+1G>A
|
|
|
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
|
|
|
NM_001348571.2(ZDHHC24):c.560-4178_*21+248del
|
|
|
NM_001349232.2(ATG7):c.1532G>A (p.Gly511Asp)
|
rs2152811529
|
|
NM_001349232.2(ATG7):c.1535T>C (p.Leu512Pro)
|
rs2152811539
|
|
NM_001349232.2(ATG7):c.1870C>T (p.His624Tyr)
|
rs777067201
|
|
NM_001349232.2(ATG7):c.782A>G (p.Gln261Arg)
|
rs2152756968
|
|
NM_001351059.2(TCIRG1):c.-262_-237del
|
rs2134438856
|
|
NM_001351132.2(PEX5):c.119G>A (p.Trp40Ter)
|
rs2135879026
|
|
NM_001351132.2(PEX5):c.1264dup (p.Ala422fs)
|
rs1374334296
|
|
NM_001351132.2(PEX5):c.1279dup (p.Arg427fs)
|
|
|
NM_001351132.2(PEX5):c.1319_1320del (p.Val440fs)
|
|
|
NM_001351132.2(PEX5):c.1355_1356del (p.Leu452fs)
|
|
|
NM_001351132.2(PEX5):c.1368_1369insGG (p.Arg457fs)
|
|
|
NM_001351132.2(PEX5):c.1426del (p.Leu476fs)
|
|
|
NM_001351132.2(PEX5):c.1469_1470insAC (p.Gln491fs)
|
rs2136243209
|
|
NM_001351132.2(PEX5):c.1512T>G (p.Tyr504Ter)
|
|
|
NM_001351132.2(PEX5):c.1521_1527del (p.Val508fs)
|
rs1731078730
|
|
NM_001351132.2(PEX5):c.1574G>A (p.Trp525Ter)
|
rs2136254746
|
|
NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys)
|
|
|
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)
|
rs61752138
|
|
NM_001351132.2(PEX5):c.1607del (p.Asn536fs)
|
|
|
NM_001351132.2(PEX5):c.30del (p.Glu10fs)
|
|
|
NM_001351132.2(PEX5):c.358C>T (p.Gln120Ter)
|
rs1941140792
|
|
NM_001351132.2(PEX5):c.361G>T (p.Glu121Ter)
|
rs1565673352
|
|
NM_001351132.2(PEX5):c.416_419del (p.Asp139fs)
|
|
|
NM_001351132.2(PEX5):c.472del (p.Arg158fs)
|
rs2136074154
|
|
NM_001351132.2(PEX5):c.478del (p.Ala160fs)
|
|
|
NM_001351132.2(PEX5):c.500C>G (p.Ser167Ter)
|
|
|
NM_001351132.2(PEX5):c.531_534dup (p.Thr179fs)
|
rs2136075415
|
|
NM_001351132.2(PEX5):c.54_69dup (p.Phe24fs)
|
|
|
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter)
|
rs1419213790
|
|
NM_001351132.2(PEX5):c.555T>A (p.Tyr185Ter)
|
|
|
NM_001351132.2(PEX5):c.670G>T (p.Glu224Ter)
|
|
|
NM_001351132.2(PEX5):c.674_695dup (p.Ser235fs)
|
rs2136151586
|
|
NM_001351132.2(PEX5):c.677dup (p.Val227fs)
|
rs796051881
|
|
NM_001351132.2(PEX5):c.715C>T (p.Gln239Ter)
|
|
|
NM_001351132.2(PEX5):c.737_738del (p.Glu246fs)
|
|
|
NM_001351132.2(PEX5):c.740_743del (p.Phe247fs)
|
|
|
NM_001351132.2(PEX5):c.76C>T (p.Gln26Ter)
|
|
|
NM_001351132.2(PEX5):c.808dup (p.Leu270fs)
|
rs2136158689
|
|
NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter)
|
|
|
NM_001351132.2(PEX5):c.82_83insT (p.Lys28fs)
|
|
|
NM_001351132.2(PEX5):c.88del (p.Leu30fs)
|
|
|
NM_001351132.2(PEX5):c.944_945dup (p.Thr316fs)
|
|
|
NM_001353108.3(CEP63):c.129G>A (p.Trp43Ter)
|
rs1164567042
|
|
NM_001353108.3(CEP63):c.490C>T (p.Gln164Ter)
|
|
|
NM_001362931.2(GDAP1):c.694+932_694+1314del
|
|
|
NM_001363980.2(MCPH1):c.1935+25462_1935+25465del
|
|
|
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
|
rs1564493599
|
|
NM_001366722.1(GRIP1):c.1337_1340del (p.Lys446fs)
|
rs397514486
|
|
NM_001366722.1(GRIP1):c.1930C>T (p.Gln644Ter)
|
rs2057189303
|
|
NM_001366722.1(GRIP1):c.2269+1G>C
|
rs397514485
|
|
NM_001367624.2(ZNF469):c.10100G>A (p.Cys3367Tyr)
|
rs387907062
|
|
NM_001367624.2(ZNF469):c.1444del (p.Leu482fs)
|
rs1484586294
|
|
NM_001367624.2(ZNF469):c.3307C>T (p.Gln1103Ter)
|
rs1906110243
|
|
NM_001367624.2(ZNF469):c.4258G>T (p.Glu1420Ter)
|
rs387907063
|
|
NM_001367624.2(ZNF469):c.6027del (p.Gly2011fs)
|
rs1597210953
|
|
NM_001367624.2(ZNF469):c.9615del (p.Gln3206fs)
|
rs2142314304
|
|
NM_001370524.1(TMIE):c.-507_-66-2329del
|
|
|
NM_001371279.1(REEP1):c.124T>C (p.Trp42Arg)
|
|
|
NM_001371279.1(REEP1):c.248del (p.Gly83fs)
|
rs2104244539
|
|
NM_001371279.1(REEP1):c.303+1_303+7delinsAC
|
rs869320621
|
|
NM_001371333.1(DIABLO):c.377C>T (p.Ser126Leu)
|
rs387906893
|
|
NM_001371596.2(MFSD8):c.699-1G>A
|
rs1739594685
|
|
NM_001374623.1(PNPLA1):c.1300del (p.Ala434fs)
|
rs753687060
|
|
NM_001374623.1(PNPLA1):c.157T>C (p.Ser53Pro)
|
rs1582046125
|
|
NM_001374623.1(PNPLA1):c.158C>G (p.Ser53Trp)
|
rs1207879599
|
|
NM_001374623.1(PNPLA1):c.176C>T (p.Ala59Val)
|
rs1561853847
|
|
NM_001374623.1(PNPLA1):c.362A>C (p.His121Pro)
|
rs1407871103
|
|
NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu)
|
rs200806519
|
|
NM_001374623.1(PNPLA1):c.391G>T (p.Glu131Ter)
|
rs1561864453
|
|
NM_001374623.1(PNPLA1):c.421A>G (p.Lys141Glu)
|
rs1582078740
|
|
NM_001374623.1(PNPLA1):c.448T>C (p.Cys150Arg)
|
rs1582081682
|
|
NM_001374623.1(PNPLA1):c.646T>C (p.Cys216Arg)
|
rs1554138062
|
|
NM_001374623.1(PNPLA1):c.727TAC[2] (p.Tyr245del)
|
rs1582086407
|
|
NM_001374623.1(PNPLA1):c.736C>T (p.Arg246Ter)
|
|
|
NM_001374623.1(PNPLA1):c.92C>A (p.Ala31Asp)
|
rs1231123861
|
|
NM_001376256.1(CRYM):c.941A>C (p.Lys314Thr)
|
rs104894512
|
|
NM_001376256.1(CRYM):c.945A>T (p.Ter315Tyr)
|
rs104894509
|
|
NM_001378454.1(ALMS1):c.10063C>T (p.Gln3355Ter)
|
|
|
NM_001378454.1(ALMS1):c.10120_10121del (p.Ser3374fs)
|
|
|
NM_001378454.1(ALMS1):c.10125del (p.Asp3375fs)
|
rs2104057987
|
|
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs)
|
rs1553416867
|
|
NM_001378454.1(ALMS1):c.10132C>T (p.Gln3378Ter)
|
|
|
NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs)
|
rs1553416872
|
|
NM_001378454.1(ALMS1):c.10247del (p.Ala3416fs)
|
rs2104063719
|
|
NM_001378454.1(ALMS1):c.10332del (p.Glu3446fs)
|
|
|
NM_001378454.1(ALMS1):c.10355dup (p.Asn3452fs)
|
|
|
NM_001378454.1(ALMS1):c.10385-2A>G
|
rs1255779642
|
|
NM_001378454.1(ALMS1):c.10421del (p.Arg3474fs)
|
rs2104103586
|
|
NM_001378454.1(ALMS1):c.10427del (p.Val3476fs)
|
rs1674946144
|
|
NM_001378454.1(ALMS1):c.10507_10510del (p.Lys3503fs)
|
|
|
NM_001378454.1(ALMS1):c.10530_10531insGGAATGTCTTTCCAAGATT (p.Trp3511fs)
|
rs2104104085
|
|
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter)
|
rs375019820
|
|
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs)
|
rs2104104189
|
|
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs)
|
rs1163532771
|
|
NM_001378454.1(ALMS1):c.10591_10594del (p.Pro3531fs)
|
|
|
NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs)
|
rs2104104427
|
|
NM_001378454.1(ALMS1):c.10652dup (p.Asn3551fs)
|
|
|
NM_001378454.1(ALMS1):c.10668del (p.Asn3556fs)
|
rs2104104628
|
|
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer)
|
rs1372103295
|
|
NM_001378454.1(ALMS1):c.10676del (p.Val3559fs)
|
rs1573030204
|
|
NM_001378454.1(ALMS1):c.10698_10702del (p.Val3567fs)
|
|
|
NM_001378454.1(ALMS1):c.10765_10766insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGGTCACCCCAG (p.Pro3588_Glu3589insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleLeuAlaAsnThrValLysProArgXaaXaaXaaXaaLysLysLysLysLysLysLysLysValThrPro)
|
rs2104105041
|
|
NM_001378454.1(ALMS1):c.10766del (p.Glu3589fs)
|
rs2104105065
|
|
NM_001378454.1(ALMS1):c.10782_10792del (p.Thr3595fs)
|
|
|
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs)
|
rs1218465638
|
|
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs)
|
rs1553418500
|
|
NM_001378454.1(ALMS1):c.10825C>T (p.Gln3609Ter)
|
|
|
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs)
|
rs755616266
|
|
NM_001378454.1(ALMS1):c.10831C>T (p.Gln3611Ter)
|
rs2104105305
|
|
NM_001378454.1(ALMS1):c.10833del (p.Gln3611fs)
|
|
|
NM_001378454.1(ALMS1):c.10834C>T (p.Gln3612Ter)
|
rs756345976
|
|
NM_001378454.1(ALMS1):c.10838_10839del (p.Arg3613fs)
|
|
|
NM_001378454.1(ALMS1):c.10860del (p.Glu3622fs)
|
|
|
NM_001378454.1(ALMS1):c.10876del (p.Val3626fs)
|
|
|
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)
|
rs1473611414
|
|
NM_001378454.1(ALMS1):c.10909C>T (p.Gln3637Ter)
|
|
|
NM_001378454.1(ALMS1):c.1092del (p.Asp365fs)
|
rs1572914641
|
|
NM_001378454.1(ALMS1):c.10942G>T (p.Glu3648Ter)
|
rs397514576
|
|
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter)
|
rs780438592
|
|
NM_001378454.1(ALMS1):c.10988G>A (p.Trp3663Ter)
|
rs1674968936
|
|
NM_001378454.1(ALMS1):c.10989G>A (p.Trp3663Ter)
|
rs193919339
|
|
NM_001378454.1(ALMS1):c.10999C>T (p.Gln3667Ter)
|
|
|
NM_001378454.1(ALMS1):c.11002C>T (p.Gln3668Ter)
|
|
|
NM_001378454.1(ALMS1):c.11037dup (p.Lys3680Ter)
|
rs2104106303
|
|
NM_001378454.1(ALMS1):c.11041del (p.Ser3681fs)
|
|
|
NM_001378454.1(ALMS1):c.11054_11055del (p.Ser3685fs)
|
|
|
NM_001378454.1(ALMS1):c.11076del (p.Ser3695fs)
|
|
|
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs)
|
rs1412574975
|
|
NM_001378454.1(ALMS1):c.11083dup (p.Ser3695fs)
|
rs1412574975
|
|
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter)
|
rs747747269
|
|
NM_001378454.1(ALMS1):c.11110_11128del (p.Gly3704fs)
|
rs2104106546
|
|
NM_001378454.1(ALMS1):c.11137C>T (p.Gln3713Ter)
|
|
|
NM_001378454.1(ALMS1):c.11166_11167del (p.Ser3722fs)
|
rs1674975219
|
|
NM_001378454.1(ALMS1):c.11170C>T (p.Gln3724Ter)
|
|
|
NM_001378454.1(ALMS1):c.11198del (p.Thr3733fs)
|
|
|
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter)
|
rs367877017
|
|
NM_001378454.1(ALMS1):c.11304_11307del (p.Thr3769fs)
|
|
|
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs)
|
rs780252175
|
|
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs)
|
rs747272625
|
|
NM_001378454.1(ALMS1):c.1132_1135dup (p.Asn379fs)
|
|
|
NM_001378454.1(ALMS1):c.11374C>T (p.Gln3792Ter)
|
|
|
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs)
|
rs768759374
|
|
NM_001378454.1(ALMS1):c.1139_1140dup (p.Ala381Ter)
|
|
|
NM_001378454.1(ALMS1):c.11400C>A (p.Cys3800Ter)
|
|
|
NM_001378454.1(ALMS1):c.11411del (p.Arg3804fs)
|
rs1263250868
|
|
NM_001378454.1(ALMS1):c.11414_11418del (p.Arg3805fs)
|
rs2104108070
|
|
NM_001378454.1(ALMS1):c.11420_11424del (p.Lys3807fs)
|
rs1553418609
|
|
NM_001378454.1(ALMS1):c.11449_11450del (p.Arg3817fs)
|
rs776599992
|
|
NM_001378454.1(ALMS1):c.11499_11502dup (p.His3835fs)
|
|
|
NM_001378454.1(ALMS1):c.11576_11577del (p.Ser3859fs)
|
rs1675623302
|
|
NM_001378454.1(ALMS1):c.11577dup (p.Ile3860fs)
|
rs2104188795
|
|
NM_001378454.1(ALMS1):c.115del (p.Asp39fs)
|
|
|
NM_001378454.1(ALMS1):c.11600dup (p.Leu3868fs)
|
rs2104188943
|
|
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs)
|
rs1476205467
|
|
NM_001378454.1(ALMS1):c.11644_11645del (p.Met3882fs)
|
rs1573052379
|
|
NM_001378454.1(ALMS1):c.11651_11654del (p.Asn3884fs)
|
|
|
NM_001378454.1(ALMS1):c.11668+1G>T
|
rs1181992959
|
|
NM_001378454.1(ALMS1):c.11682del (p.Ile3894fs)
|
|
|
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs)
|
rs1553421626
|
|
NM_001378454.1(ALMS1):c.11707C>T (p.Arg3903Ter)
|
rs1290800821
|
|
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs)
|
rs932538480
|
|
NM_001378454.1(ALMS1):c.11723del (p.Thr3908fs)
|
rs1573053412
|
|
NM_001378454.1(ALMS1):c.11725_11726del (p.Phe3909fs)
|
|
|
NM_001378454.1(ALMS1):c.11735del (p.Pro3912fs)
|
|
|
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs)
|
rs1247974278
|
|
NM_001378454.1(ALMS1):c.11784G>A (p.Trp3928Ter)
|
rs1318520999
|
|
NM_001378454.1(ALMS1):c.11785_11792delinsCCGGAAT (p.Ser3929fs)
|
rs1675665426
|
|
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs)
|
rs757722767
|
|
NM_001378454.1(ALMS1):c.11846_11849del (p.Lys3949fs)
|
rs765718672
|
|
NM_001378454.1(ALMS1):c.11849del (p.Lys3950fs)
|
rs765718672
|
|
NM_001378454.1(ALMS1):c.11853del (p.Asn3951fs)
|
|
|
NM_001378454.1(ALMS1):c.11871_11872del (p.Gly3958fs)
|
rs2104194220
|
|
NM_001378454.1(ALMS1):c.11873-1G>C
|
rs2104195295
|
|
NM_001378454.1(ALMS1):c.11873-2A>T
|
rs786205527
|
|
NM_001378454.1(ALMS1):c.11877_11878del (p.Ser3960fs)
|
rs758732551
|
|
NM_001378454.1(ALMS1):c.11878dup (p.Ser3960fs)
|
|
|
NM_001378454.1(ALMS1):c.11882G>A (p.Trp3961Ter)
|
rs1332287946
|
|
NM_001378454.1(ALMS1):c.11904_11908del (p.Val3968_Glu3969insTer)
|
rs2104195495
|
|
NM_001378454.1(ALMS1):c.11960G>A (p.Trp3987Ter)
|
|
|
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)
|
rs761292021
|
|
NM_001378454.1(ALMS1):c.11991G>A (p.Trp3997Ter)
|
rs1553421725
|
|
NM_001378454.1(ALMS1):c.1201del (p.Glu401fs)
|
|
|
NM_001378454.1(ALMS1):c.12020del (p.Gln4007fs)
|
|
|
NM_001378454.1(ALMS1):c.12040_12041del (p.Arg4014fs)
|
|
|
NM_001378454.1(ALMS1):c.12044del (p.Gly4015fs)
|
rs1675682743
|
|
NM_001378454.1(ALMS1):c.12059del (p.Pro4020fs)
|
rs2104196326
|
|
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs)
|
rs1553421741
|
|
NM_001378454.1(ALMS1):c.1208C>G (p.Ser403Ter)
|
rs1248541208
|
|
NM_001378454.1(ALMS1):c.12111dup (p.Gln4038fs)
|
rs1675685953
|
|
NM_001378454.1(ALMS1):c.12124C>T (p.Gln4042Ter)
|
rs1675708936
|
|
NM_001378454.1(ALMS1):c.12151dup (p.Arg4051fs)
|
|
|
NM_001378454.1(ALMS1):c.12175del (p.Arg4058_Leu4059insTer)
|
|
|
NM_001378454.1(ALMS1):c.12199A>T (p.Lys4067Ter)
|
|
|
NM_001378454.1(ALMS1):c.12215T>A (p.Leu4072Ter)
|
|
|
NM_001378454.1(ALMS1):c.12217C>T (p.Gln4073Ter)
|
|
|
NM_001378454.1(ALMS1):c.12259C>T (p.Gln4087Ter)
|
|
|
NM_001378454.1(ALMS1):c.12313C>T (p.Gln4105Ter)
|
|
|
NM_001378454.1(ALMS1):c.12323del (p.Lys4108fs)
|
rs1675739925
|
|
NM_001378454.1(ALMS1):c.12340del (p.Glu4114fs)
|
rs2104202909
|
|
NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter)
|
rs1174712970
|
|
NM_001378454.1(ALMS1):c.12391A>T (p.Lys4131Ter)
|
|
|
NM_001378454.1(ALMS1):c.12397A>T (p.Arg4133Ter)
|
|
|
NM_001378454.1(ALMS1):c.12409A>T (p.Lys4137Ter)
|
|
|
NM_001378454.1(ALMS1):c.1291G>T (p.Glu431Ter)
|
rs2103720460
|
|
NM_001378454.1(ALMS1):c.1335_1338del (p.Arg445fs)
|
rs2103720605
|
|
NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter)
|
rs2103734325
|
|
NM_001378454.1(ALMS1):c.1349_1350del (p.Glu450fs)
|
|
|
NM_001378454.1(ALMS1):c.1352C>A (p.Ser451Ter)
|
|
|
NM_001378454.1(ALMS1):c.1359T>A (p.Tyr453Ter)
|
rs2103734375
|
|
NM_001378454.1(ALMS1):c.1386dup (p.Met463fs)
|
|
|
NM_001378454.1(ALMS1):c.1403_1404del (p.Val468fs)
|
rs1558642193
|
|
NM_001378454.1(ALMS1):c.1413del (p.Pro472fs)
|
rs2103734574
|
|
NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter)
|
rs2103771067
|
|
NM_001378454.1(ALMS1):c.1466_1469del (p.Thr489fs)
|
rs2103771168
|
|
NM_001378454.1(ALMS1):c.1480A>T (p.Lys494Ter)
|
rs2103771218
|
|
NM_001378454.1(ALMS1):c.149del (p.Ala50fs)
|
rs2104058704
|
|
NM_001378454.1(ALMS1):c.1518del (p.Ile506fs)
|
|
|
NM_001378454.1(ALMS1):c.1549del (p.Leu517fs)
|
|
|
NM_001378454.1(ALMS1):c.1579G>T (p.Glu527Ter)
|
|
|
NM_001378454.1(ALMS1):c.1594C>T (p.Gln532Ter)
|
|
|
NM_001378454.1(ALMS1):c.1601dup (p.Thr534_Asp535insTer)
|
rs1572931360
|
|
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.1625T>G (p.Leu542Ter)
|
|
|
NM_001378454.1(ALMS1):c.1673del (p.Pro558fs)
|
|
|
NM_001378454.1(ALMS1):c.168dup (p.Asp57fs)
|
rs1269948810
|
|
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter)
|
rs756389027
|
|
NM_001378454.1(ALMS1):c.1756C>T (p.Gln586Ter)
|
rs2103772104
|
|
NM_001378454.1(ALMS1):c.1785dup (p.Glu596Ter)
|
|
|
NM_001378454.1(ALMS1):c.1786del (p.Glu596fs)
|
|
|
NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer)
|
rs398122991
|
|
NM_001378454.1(ALMS1):c.1816G>T (p.Gly606Ter)
|
rs1553403321
|
|
NM_001378454.1(ALMS1):c.1844C>G (p.Ser615Ter)
|
rs2103772444
|
|
NM_001378454.1(ALMS1):c.1850dup (p.Thr618fs)
|
|
|
NM_001378454.1(ALMS1):c.1876_1879del (p.Glu626fs)
|
|
|
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter)
|
rs398122995
|
|
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)
|
rs780843883
|
|
NM_001378454.1(ALMS1):c.1910del (p.Pro637fs)
|
rs2103772743
|
|
NM_001378454.1(ALMS1):c.1941del (p.Val648fs)
|
rs1671852270
|
|
NM_001378454.1(ALMS1):c.1946C>G (p.Ser649Ter)
|
|
|
NM_001378454.1(ALMS1):c.1969C>T (p.Gln657Ter)
|
|
|
NM_001378454.1(ALMS1):c.196G>T (p.Glu66Ter)
|
rs1169223296
|
|
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter)
|
rs190439406
|
|
NM_001378454.1(ALMS1):c.2064_2065dup (p.Thr689fs)
|
rs2103773428
|
|
NM_001378454.1(ALMS1):c.2070dup (p.Gln691fs)
|
rs1671856137
|
|
NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter)
|
rs752875933
|
|
NM_001378454.1(ALMS1):c.20del (p.Pro7fs)
|
rs1340135231
|
|
NM_001378454.1(ALMS1):c.2110C>T (p.Gln704Ter)
|
|
|
NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter)
|
rs757131983
|
|
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs)
|
rs387906313
|
|
NM_001378454.1(ALMS1):c.214G>T (p.Glu72Ter)
|
|
|
NM_001378454.1(ALMS1):c.2158_2161del (p.Glu720fs)
|
|
|
NM_001378454.1(ALMS1):c.2164_2165insT (p.Pro722fs)
|
rs1671859372
|
|
NM_001378454.1(ALMS1):c.2176del (p.Tyr726fs)
|
|
|
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)
|
rs771459937
|
|
NM_001378454.1(ALMS1):c.2179C>T (p.Gln727Ter)
|
|
|
NM_001378454.1(ALMS1):c.2182C>T (p.Gln728Ter)
|
|
|
NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter)
|
rs757152182
|
|
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs)
|
rs769291842
|
|
NM_001378454.1(ALMS1):c.2225_2226dup (p.Val743fs)
|
rs2103774323
|
|
NM_001378454.1(ALMS1):c.2231C>G (p.Ser744Ter)
|
|
|
NM_001378454.1(ALMS1):c.2239_3050dup (p.Trp1017delinsCysLeuAspGlnLeuThrArgArgLeuArgTyrGlnGlnTyrSerLeuValLeuThrHisLysGluLysSerLeuValPheCysThrHisArgThrTer)
|
|
|
NM_001378454.1(ALMS1):c.2270del (p.Pro757fs)
|
rs1572932377
|
|
NM_001378454.1(ALMS1):c.2273_2274del (p.Ala758fs)
|
rs1671863469
|
|
NM_001378454.1(ALMS1):c.2292C>G (p.Tyr764Ter)
|
|
|
NM_001378454.1(ALMS1):c.2314_2315del (p.Ile772fs)
|
rs2103774725
|
|
NM_001378454.1(ALMS1):c.236G>A (p.Trp79Ter)
|
|
|
NM_001378454.1(ALMS1):c.2370_2371del (p.Ala792fs)
|
rs1271517550
|
|
NM_001378454.1(ALMS1):c.237G>A (p.Trp79Ter)
|
|
|
NM_001378454.1(ALMS1):c.2434_2435dup (p.Arg814fs)
|
|
|
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs)
|
rs765764128
|
|
NM_001378454.1(ALMS1):c.2446A>T (p.Lys816Ter)
|
|
|
NM_001378454.1(ALMS1):c.2467C>T (p.Gln823Ter)
|
rs201853697
|
|
NM_001378454.1(ALMS1):c.2483del (p.Ser828fs)
|
|
|
NM_001378454.1(ALMS1):c.2494G>T (p.Glu832Ter)
|
|
|
NM_001378454.1(ALMS1):c.2513C>A (p.Ser838Ter)
|
rs2103775505
|
|
NM_001378454.1(ALMS1):c.2519_2525del (p.Val840fs)
|
|
|
NM_001378454.1(ALMS1):c.2536G>T (p.Gly846Ter)
|
rs201154998
|
|
NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter)
|
rs1572932845
|
|
NM_001378454.1(ALMS1):c.2652dup (p.Leu885fs)
|
|
|
NM_001378454.1(ALMS1):c.2658dup (p.Val887fs)
|
|
|
NM_001378454.1(ALMS1):c.2663C>G (p.Ser888Ter)
|
|
|
NM_001378454.1(ALMS1):c.2687del (p.Gln896fs)
|
rs2103776149
|
|
NM_001378454.1(ALMS1):c.2705C>G (p.Ser902Ter)
|
|
|
NM_001378454.1(ALMS1):c.2734_2737del (p.Glu912fs)
|
rs1671876151
|
|
NM_001378454.1(ALMS1):c.2743dup (p.Ile915fs)
|
|
|
NM_001378454.1(ALMS1):c.2752del (p.Ser918fs)
|
|
|
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs)
|
rs1230351650
|
|
NM_001378454.1(ALMS1):c.2755C>T (p.Gln919Ter)
|
rs1322100078
|
|
NM_001378454.1(ALMS1):c.2785G>T (p.Glu929Ter)
|
rs1572933082
|
|
NM_001378454.1(ALMS1):c.2797A>T (p.Lys933Ter)
|
|
|
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs)
|
rs2104060044
|
|
NM_001378454.1(ALMS1):c.2827C>T (p.Gln943Ter)
|
|
|
NM_001378454.1(ALMS1):c.2882del (p.Ser961fs)
|
rs2103776873
|
|
NM_001378454.1(ALMS1):c.2896C>T (p.Gln966Ter)
|
rs761177629
|
|
NM_001378454.1(ALMS1):c.2897del (p.Gln966fs)
|
rs1671880064
|
|
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs)
|
rs1671880172
|
|
NM_001378454.1(ALMS1):c.2935_2936del (p.Leu979fs)
|
rs2103777026
|
|
NM_001378454.1(ALMS1):c.2941dup (p.Met981fs)
|
|
|
NM_001378454.1(ALMS1):c.2955_2956insTGAC (p.Gly986Ter)
|
rs1553403585
|
|
NM_001378454.1(ALMS1):c.2963del (p.Thr988fs)
|
|
|
NM_001378454.1(ALMS1):c.298G>T (p.Glu100Ter)
|
rs1254495717
|
|
NM_001378454.1(ALMS1):c.2994_2997del (p.Pro999fs)
|
rs766323360
|
|
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)
|
rs1359874667
|
|
NM_001378454.1(ALMS1):c.3012del (p.His1005fs)
|
rs2103777336
|
|
NM_001378454.1(ALMS1):c.3019_3022del (p.Glu1007fs)
|
|
|
NM_001378454.1(ALMS1):c.3039_3042del (p.Gln1014fs)
|
rs1671883188
|
|
NM_001378454.1(ALMS1):c.3050G>A (p.Trp1017Ter)
|
|
|
NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter)
|
rs1671883598
|
|
NM_001378454.1(ALMS1):c.3059_3062del (p.Ser1020fs)
|
rs2103777482
|
|
NM_001378454.1(ALMS1):c.3112C>T (p.Gln1038Ter)
|
rs2103777652
|
|
NM_001378454.1(ALMS1):c.3121_3125del (p.Glu1041fs)
|
rs1671885188
|
|
NM_001378454.1(ALMS1):c.3136C>T (p.Gln1046Ter)
|
rs1671885850
|
|
NM_001378454.1(ALMS1):c.3150C>A (p.Tyr1050Ter)
|
rs1671886193
|
|
NM_001378454.1(ALMS1):c.31G>T (p.Glu11Ter)
|
|
|
NM_001378454.1(ALMS1):c.3230C>G (p.Ser1077Ter)
|
|
|
NM_001378454.1(ALMS1):c.3248_3255del (p.Ala1083fs)
|
|
|
NM_001378454.1(ALMS1):c.3253C>T (p.Gln1085Ter)
|
|
|
NM_001378454.1(ALMS1):c.3297_3298del (p.Lys1102fs)
|
rs1553403653
|
|
NM_001378454.1(ALMS1):c.3298del (p.Arg1100fs)
|
rs1553403653
|
|
NM_001378454.1(ALMS1):c.3325C>T (p.Gln1109Ter)
|
rs1671890891
|
|
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs)
|
rs1553403656
|
|
NM_001378454.1(ALMS1):c.3340_3341del (p.His1115fs)
|
|
|
NM_001378454.1(ALMS1):c.3375_3376del (p.Ala1126fs)
|
rs2103778657
|
|
NM_001378454.1(ALMS1):c.3422C>G (p.Ser1141Ter)
|
rs780622565
|
|
NM_001378454.1(ALMS1):c.3436C>T (p.Gln1146Ter)
|
rs2103778961
|
|
NM_001378454.1(ALMS1):c.3466C>T (p.Gln1156Ter)
|
|
|
NM_001378454.1(ALMS1):c.350G>A (p.Trp117Ter)
|
rs1671017057
|
|
NM_001378454.1(ALMS1):c.3522dup (p.Thr1175fs)
|
rs1671897788
|
|
NM_001378454.1(ALMS1):c.3523dup (p.Thr1175fs)
|
rs2103779248
|
|
NM_001378454.1(ALMS1):c.3557_3564del (p.Arg1186fs)
|
rs2103779399
|
|
NM_001378454.1(ALMS1):c.3567_3586del (p.Thr1190fs)
|
|
|
NM_001378454.1(ALMS1):c.358_361del (p.Ile120fs)
|
|
|
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs)
|
rs1553398842
|
|
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs)
|
rs868776324
|
|
NM_001378454.1(ALMS1):c.3729_3730del (p.Lys1244fs)
|
|
|
NM_001378454.1(ALMS1):c.3751C>T (p.Gln1251Ter)
|
|
|
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter)
|
rs1085307054
|
|
NM_001378454.1(ALMS1):c.3862_3863insTAT (p.Gln1288delinsLeuTer)
|
|
|
NM_001378454.1(ALMS1):c.3867T>G (p.Tyr1289Ter)
|
rs369314182
|
|
NM_001378454.1(ALMS1):c.3872_3875dup (p.Pro1293fs)
|
|
|
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter)
|
rs2103780557
|
|
NM_001378454.1(ALMS1):c.3895C>T (p.Gln1299Ter)
|
|
|
NM_001378454.1(ALMS1):c.3899C>A (p.Ser1300Ter)
|
rs769219669
|
|
NM_001378454.1(ALMS1):c.3903_4072del (p.Leu1301fs)
|
rs2103780610
|
|
NM_001378454.1(ALMS1):c.3918_3921del (p.Thr1307fs)
|
|
|
NM_001378454.1(ALMS1):c.3954_3955del (p.Pro1319fs)
|
rs2103780806
|
|
NM_001378454.1(ALMS1):c.4004C>G (p.Ser1335Ter)
|
|
|
NM_001378454.1(ALMS1):c.4010_4011del (p.Thr1337fs)
|
rs2103780952
|
|
NM_001378454.1(ALMS1):c.4035_4047del (p.Gln1345fs)
|
|
|
NM_001378454.1(ALMS1):c.4036C>T (p.Gln1346Ter)
|
|
|
NM_001378454.1(ALMS1):c.4039del (p.Val1347fs)
|
rs2103781095
|
|
NM_001378454.1(ALMS1):c.4138_4141del (p.Ser1380fs)
|
|
|
NM_001378454.1(ALMS1):c.4144_4147del (p.Ser1382fs)
|
rs2103781518
|
|
NM_001378454.1(ALMS1):c.4179_4180inv (p.Gln1394Ter)
|
|
|
NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter)
|
rs2103781864
|
|
NM_001378454.1(ALMS1):c.4221dup (p.Val1408fs)
|
rs2103781901
|
|
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs)
|
rs1553403851
|
|
NM_001378454.1(ALMS1):c.4271T>A (p.Leu1424Ter)
|
rs2103782122
|
|
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs)
|
rs398122993
|
|
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)
|
rs1208636696
|
|
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
|
|
|
NM_001378454.1(ALMS1):c.4335_4336del (p.His1445fs)
|
|
|
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter)
|
rs778728424
|
|
NM_001378454.1(ALMS1):c.4360G>T (p.Glu1454Ter)
|
|
|
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter)
|
rs904289501
|
|
NM_001378454.1(ALMS1):c.4411_4412del (p.Val1471fs)
|
rs2103782701
|
|
NM_001378454.1(ALMS1):c.4645dup (p.Arg1549fs)
|
rs1553403917
|
|
NM_001378454.1(ALMS1):c.4662_4663delinsAT (p.Gly1555Ter)
|
|
|
NM_001378454.1(ALMS1):c.46G>T (p.Glu16Ter)
|
|
|
NM_001378454.1(ALMS1):c.4711_4712dup (p.Ser1572fs)
|
|
|
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter)
|
rs2103783763
|
|
NM_001378454.1(ALMS1):c.4721del (p.Gly1574fs)
|
rs2103783797
|
|
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter)
|
rs1572935708
|
|
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)
|
|
|
NM_001378454.1(ALMS1):c.4820del (p.Lys1607fs)
|
rs758098717
|
|
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs)
|
rs758098717
|
|
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs)
|
rs779366889
|
|
NM_001378454.1(ALMS1):c.4916_4919del (p.Lys1639fs)
|
rs1439452693
|
|
NM_001378454.1(ALMS1):c.4934C>A (p.Ser1645Ter)
|
rs774594040
|
|
NM_001378454.1(ALMS1):c.496C>T (p.Gln166Ter)
|
|
|
NM_001378454.1(ALMS1):c.4G>T (p.Glu2Ter)
|
|
|
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs)
|
rs1572936092
|
|
NM_001378454.1(ALMS1):c.5021del (p.Phe1674fs)
|
|
|
NM_001378454.1(ALMS1):c.5025C>G (p.Tyr1675Ter)
|
|
|
NM_001378454.1(ALMS1):c.5051_5057del (p.His1683_Leu1684insTer)
|
rs1671941012
|
|
NM_001378454.1(ALMS1):c.5132T>G (p.Leu1711Ter)
|
|
|
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs)
|
rs748709116
|
|
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs)
|
rs1553404020
|
|
NM_001378454.1(ALMS1):c.5197C>T (p.Gln1733Ter)
|
rs750136202
|
|
NM_001378454.1(ALMS1):c.5198_5199del (p.Gln1733fs)
|
|
|
NM_001378454.1(ALMS1):c.5215del (p.Ser1739fs)
|
rs1195572987
|
|
NM_001378454.1(ALMS1):c.5260dup (p.Val1754fs)
|
|
|
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs)
|
rs2103785778
|
|
NM_001378454.1(ALMS1):c.5277T>G (p.Tyr1759Ter)
|
|
|
NM_001378454.1(ALMS1):c.5280del (p.His1761fs)
|
rs2103785835
|
|
NM_001378454.1(ALMS1):c.5307C>A (p.Tyr1769Ter)
|
rs758678450
|
|
NM_001378454.1(ALMS1):c.5307C>G (p.Tyr1769Ter)
|
|
|
NM_001378454.1(ALMS1):c.5318T>A (p.Leu1773Ter)
|
rs2103786025
|
|
NM_001378454.1(ALMS1):c.5350A>T (p.Lys1784Ter)
|
|
|
NM_001378454.1(ALMS1):c.538_541dup (p.Asp181fs)
|
|
|
NM_001378454.1(ALMS1):c.5396C>G (p.Ser1799Ter)
|
|
|
NM_001378454.1(ALMS1):c.539_542dup (p.Asp181fs)
|
|
|
NM_001378454.1(ALMS1):c.5422_5425del (p.His1808fs)
|
rs1671951264
|
|
NM_001378454.1(ALMS1):c.5430_5431del (p.Lys1811fs)
|
|
|
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs)
|
rs770264966
|
|
NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter)
|
rs1671239143
|
|
NM_001378454.1(ALMS1):c.5501del (p.Pro1834fs)
|
|
|
NM_001378454.1(ALMS1):c.554_555del (p.Thr185fs)
|
|
|
NM_001378454.1(ALMS1):c.5571dup (p.Val1858fs)
|
|
|
NM_001378454.1(ALMS1):c.5583T>A (p.Tyr1861Ter)
|
|
|
NM_001378454.1(ALMS1):c.5587C>T (p.Gln1863Ter)
|
rs769440001
|
|
NM_001378454.1(ALMS1):c.5606_5612del (p.Thr1869fs)
|
|
|
NM_001378454.1(ALMS1):c.560dup (p.Ser189fs)
|
rs1439541639
|
|
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)
|
|
|
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs)
|
rs1553404109
|
|
NM_001378454.1(ALMS1):c.564del (p.Ser189fs)
|
|
|
NM_001378454.1(ALMS1):c.5655_6063del (p.Lys1885_Thr1886insTer)
|
rs2103787249
|
|
NM_001378454.1(ALMS1):c.5698_5701del (p.Glu1900fs)
|
rs1558650438
|
|
NM_001378454.1(ALMS1):c.5706del (p.Ser1903fs)
|
|
|
NM_001378454.1(ALMS1):c.571G>T (p.Glu191Ter)
|
rs765553310
|
|
NM_001378454.1(ALMS1):c.5722C>T (p.Gln1908Ter)
|
|
|
NM_001378454.1(ALMS1):c.5732del (p.Pro1911fs)
|
rs763048583
|
|
NM_001378454.1(ALMS1):c.5746G>T (p.Glu1916Ter)
|
|
|
NM_001378454.1(ALMS1):c.5750_5753del (p.Ala1917fs)
|
rs2103787540
|
|
NM_001378454.1(ALMS1):c.5787del (p.Lys1930fs)
|
|
|
NM_001378454.1(ALMS1):c.57_58insTAGGAG (p.Glu20Ter)
|
rs1574423697
|
|
NM_001378454.1(ALMS1):c.5821dup (p.Tyr1941fs)
|
rs2103787808
|
|
NM_001378454.1(ALMS1):c.5825C>G (p.Ser1942Ter)
|
|
|
NM_001378454.1(ALMS1):c.5826dup (p.Arg1943fs)
|
|
|
NM_001378454.1(ALMS1):c.5853_5854del (p.Gln1952fs)
|
rs2103787916
|
|
NM_001378454.1(ALMS1):c.5854C>T (p.Gln1952Ter)
|
|
|
NM_001378454.1(ALMS1):c.586del (p.Thr196fs)
|
rs2103701730
|
|
NM_001378454.1(ALMS1):c.5887G>T (p.Glu1963Ter)
|
|
|
NM_001378454.1(ALMS1):c.5896A>T (p.Lys1966Ter)
|
|
|
NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter)
|
rs1671240457
|
|
NM_001378454.1(ALMS1):c.5902dup (p.Ser1968fs)
|
|
|
NM_001378454.1(ALMS1):c.5915del (p.Ile1972fs)
|
|
|
NM_001378454.1(ALMS1):c.5923del (p.Glu1975fs)
|
rs398122994
|
|
NM_001378454.1(ALMS1):c.5926C>T (p.Gln1976Ter)
|
rs533606326
|
|
NM_001378454.1(ALMS1):c.5951dup (p.Ser1985fs)
|
|
|
NM_001378454.1(ALMS1):c.595G>T (p.Glu199Ter)
|
|
|
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter)
|
rs777080769
|
|
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs)
|
rs1553404180
|
|
NM_001378454.1(ALMS1):c.6061C>T (p.Gln2021Ter)
|
|
|
NM_001378454.1(ALMS1):c.6094G>T (p.Gly2032Ter)
|
rs1671971419
|
|
NM_001378454.1(ALMS1):c.6121del (p.Gln2041fs)
|
rs1671971721
|
|
NM_001378454.1(ALMS1):c.6163_6164dup (p.Asn2055fs)
|
rs2103789120
|
|
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs)
|
rs759603306
|
|
NM_001378454.1(ALMS1):c.6204_6208del (p.Ser2068fs)
|
rs1671974033
|
|
NM_001378454.1(ALMS1):c.622_623del (p.Asp208fs)
|
|
|
NM_001378454.1(ALMS1):c.6263del (p.Pro2088fs)
|
|
|
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
|
rs28730854
|
|
NM_001378454.1(ALMS1):c.6308_6318del (p.Ile2103fs)
|
|
|
NM_001378454.1(ALMS1):c.6319C>T (p.Gln2107Ter)
|
|
|
NM_001378454.1(ALMS1):c.6343dup (p.Thr2115fs)
|
|
|
NM_001378454.1(ALMS1):c.6372del (p.Pro2125fs)
|
rs1553404220
|
|
NM_001378454.1(ALMS1):c.638dup (p.Leu214fs)
|
rs2103701996
|
|
NM_001378454.1(ALMS1):c.6408_6409insCCTA (p.Ala2137fs)
|
rs1553404233
|
|
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.6467T>A (p.Leu2156Ter)
|
rs2103790206
|
|
NM_001378454.1(ALMS1):c.6479del (p.His2160fs)
|
|
|
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs)
|
rs1553404252
|
|
NM_001378454.1(ALMS1):c.6528dup (p.Gln2177fs)
|
rs2103790479
|
|
NM_001378454.1(ALMS1):c.6538G>T (p.Gly2180Ter)
|
|
|
NM_001378454.1(ALMS1):c.6560del (p.Gly2187fs)
|
|
|
NM_001378454.1(ALMS1):c.6566dup (p.Tyr2189Ter)
|
|
|
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs)
|
rs1034630858
|
|
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs)
|
rs1553404283
|
|
NM_001378454.1(ALMS1):c.6668_6669insTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCCAAATAATGTGCTTTT (p.Leu2223delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaLysTer)
|
rs2103790992
|
|
NM_001378454.1(ALMS1):c.6683_6684del (p.Asp2228fs)
|
rs2103791069
|
|
NM_001378454.1(ALMS1):c.6688dup (p.Arg2230fs)
|
rs2103791083
|
|
NM_001378454.1(ALMS1):c.6690_6691del (p.Arg2230fs)
|
|
|
NM_001378454.1(ALMS1):c.6703A>T (p.Lys2235Ter)
|
|
|
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)
|
rs1553404310
|
|
NM_001378454.1(ALMS1):c.6813dup (p.Met2272fs)
|
rs1671989236
|
|
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs)
|
rs1553404337
|
|
NM_001378454.1(ALMS1):c.6839del (p.Pro2280fs)
|
|
|
NM_001378454.1(ALMS1):c.6847dup (p.Leu2283fs)
|
rs1558651349
|
|
NM_001378454.1(ALMS1):c.6886C>T (p.Gln2296Ter)
|
rs747355678
|
|
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs)
|
rs1553404358
|
|
NM_001378454.1(ALMS1):c.6918del (p.Ser2307fs)
|
rs2103791934
|
|
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs)
|
rs1553404377
|
|
NM_001378454.1(ALMS1):c.6993C>A (p.Cys2331Ter)
|
|
|
NM_001378454.1(ALMS1):c.7001dup (p.Asp2335fs)
|
|
|
NM_001378454.1(ALMS1):c.7067C>A (p.Ser2356Ter)
|
|
|
NM_001378454.1(ALMS1):c.7087del (p.Leu2363fs)
|
rs1553404395
|
|
NM_001378454.1(ALMS1):c.7129dup (p.Thr2377fs)
|
|
|
NM_001378454.1(ALMS1):c.7132C>T (p.Leu2378Phe)
|
rs768751472
|
|
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs)
|
rs1553404423
|
|
NM_001378454.1(ALMS1):c.7234A>T (p.Lys2412Ter)
|
|
|
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs)
|
rs1553404426
|
|
NM_001378454.1(ALMS1):c.7244C>A (p.Ser2415Ter)
|
rs1060500039
|
|
NM_001378454.1(ALMS1):c.7244C>G (p.Ser2415Ter)
|
|
|
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs)
|
rs1246023978
|
|
NM_001378454.1(ALMS1):c.7313C>A (p.Ser2438Ter)
|
rs1558651680
|
|
NM_001378454.1(ALMS1):c.7367_7370del (p.Ile2456fs)
|
rs2103793713
|
|
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer)
|
rs1225343345
|
|
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs)
|
rs1370417967
|
|
NM_001378454.1(ALMS1):c.73G>T (p.Glu25Ter)
|
rs1285425883
|
|
NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter)
|
rs373586405
|
|
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)
|
rs2103794046
|
|
NM_001378454.1(ALMS1):c.74_75insGGAGTA (p.Glu26_Glu27insTerGlu)
|
rs1574423810
|
|
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter)
|
rs1315351235
|
|
NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter)
|
rs1572939837
|
|
NM_001378454.1(ALMS1):c.7624del (p.Glu2542fs)
|
|
|
NM_001378454.1(ALMS1):c.7672A>T (p.Lys2558Ter)
|
rs1200012970
|
|
NM_001378454.1(ALMS1):c.7674+1G>A
|
rs1417025395
|
|
NM_001378454.1(ALMS1):c.7674+1G>T
|
rs1417025395
|
|
NM_001378454.1(ALMS1):c.7737_7738insTTTTTTTTTTTTTTTTTTNNNNNNNNNNACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCGATTTTCCTGCCTCAGCCTCCGTCACATTATTATT (p.Ile2579_Glu2580insPhePhePhePhePhePheXaaXaaXaaXaaGlyValLeuLeuCysCysLeuGlyGlyValGlnTrpCysAsnLeuGlySerLeuGlnProLeuProProArgLeuLysArgPheSerCysLeuSerLeuArgHisIleIleIle)
|
rs2103889249
|
|
NM_001378454.1(ALMS1):c.7751del (p.Lys2584fs)
|
|
|
NM_001378454.1(ALMS1):c.7769dup (p.Thr2591fs)
|
|
|
NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter)
|
rs1672934629
|
|
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs)
|
rs1553409617
|
|
NM_001378454.1(ALMS1):c.784G>T (p.Glu262Ter)
|
|
|
NM_001378454.1(ALMS1):c.7864dup (p.Cys2622fs)
|
rs2103889832
|
|
NM_001378454.1(ALMS1):c.7866C>A (p.Cys2622Ter)
|
|
|
NM_001378454.1(ALMS1):c.790dup (p.Thr264fs)
|
rs1307785790
|
|
NM_001378454.1(ALMS1):c.7948del (p.Ser2650fs)
|
|
|
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter)
|
rs549857076
|
|
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer)
|
rs758952057
|
|
NM_001378454.1(ALMS1):c.8042C>G (p.Ser2681Ter)
|
|
|
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter)
|
rs1426009756
|
|
NM_001378454.1(ALMS1):c.8072del (p.Pro2691fs)
|
|
|
NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs)
|
rs2103890652
|
|
NM_001378454.1(ALMS1):c.8129del (p.Lys2710fs)
|
|
|
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.8153C>A (p.Ser2718Ter)
|
|
|
NM_001378454.1(ALMS1):c.8174_8184del (p.Cys2725fs)
|
rs2103890894
|
|
NM_001378454.1(ALMS1):c.8221C>T (p.Gln2741Ter)
|
|
|
NM_001378454.1(ALMS1):c.823G>T (p.Glu275Ter)
|
|
|
NM_001378454.1(ALMS1):c.8245dup (p.Val2749fs)
|
rs748621056
|
|
NM_001378454.1(ALMS1):c.8250_8254del (p.Asn2751fs)
|
rs2103891188
|
|
NM_001378454.1(ALMS1):c.8295dup (p.Gln2766fs)
|
|
|
NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs)
|
rs1671340542
|
|
NM_001378454.1(ALMS1):c.8343del (p.Asp2782fs)
|
|
|
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer)
|
rs1553409710
|
|
NM_001378454.1(ALMS1):c.8358dup (p.Ile2787fs)
|
|
|
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
|
|
|
NM_001378454.1(ALMS1):c.8380C>T (p.Gln2794Ter)
|
rs193919338
|
|
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs)
|
rs1553409715
|
|
NM_001378454.1(ALMS1):c.8440_8443del (p.Arg2814fs)
|
|
|
NM_001378454.1(ALMS1):c.8444C>G (p.Ser2815Ter)
|
rs2103891827
|
|
NM_001378454.1(ALMS1):c.847G>T (p.Glu283Ter)
|
|
|
NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter)
|
rs1672957185
|
|
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter)
|
rs1270472063
|
|
NM_001378454.1(ALMS1):c.8598del (p.Glu2867fs)
|
rs2103892422
|
|
NM_001378454.1(ALMS1):c.8630_8631insG (p.Ser2878fs)
|
rs2103892558
|
|
NM_001378454.1(ALMS1):c.8637C>A (p.Cys2879Ter)
|
|
|
NM_001378454.1(ALMS1):c.8668dup (p.Gln2890fs)
|
|
|
NM_001378454.1(ALMS1):c.8674_8678del (p.Lys2892fs)
|
|
|
NM_001378454.1(ALMS1):c.870del (p.Ser290fs)
|
rs2103714765
|
|
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs)
|
rs1553409764
|
|
NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter)
|
rs1188328539
|
|
NM_001378454.1(ALMS1):c.8739T>G (p.Tyr2913Ter)
|
|
|
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs)
|
rs1553409774
|
|
NM_001378454.1(ALMS1):c.8763C>A (p.Cys2921Ter)
|
rs765908556
|
|
NM_001378454.1(ALMS1):c.8769dup (p.Leu2924fs)
|
rs2103893216
|
|
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)
|
rs376244626
|
|
NM_001378454.1(ALMS1):c.8790_8791del (p.Phe2930fs)
|
rs1672964092
|
|
NM_001378454.1(ALMS1):c.8856_8860del (p.Gln2953fs)
|
rs2103893595
|
|
NM_001378454.1(ALMS1):c.8858_8859insAGCTATAGAATCCTCA (p.Asp2954fs)
|
rs2103893636
|
|
NM_001378454.1(ALMS1):c.8935C>T (p.Gln2979Ter)
|
|
|
NM_001378454.1(ALMS1):c.8965C>T (p.Gln2989Ter)
|
rs2103894102
|
|
NM_001378454.1(ALMS1):c.8998C>T (p.Gln3000Ter)
|
rs200930613
|
|
NM_001378454.1(ALMS1):c.9068C>G (p.Ser3023Ter)
|
|
|
NM_001378454.1(ALMS1):c.9083_9084del (p.Cys3028fs)
|
|
|
NM_001378454.1(ALMS1):c.9113del (p.Pro3038fs)
|
rs1425609364
|
|
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs)
|
rs1553409851
|
|
NM_001378454.1(ALMS1):c.9190_9191insA (p.Leu3064fs)
|
rs1672976991
|
|
NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter)
|
rs1434010689
|
|
NM_001378454.1(ALMS1):c.9245del (p.Glu3082fs)
|
|
|
NM_001378454.1(ALMS1):c.9251del (p.Asn3084fs)
|
rs1572970628
|
|
NM_001378454.1(ALMS1):c.9268_9269dup (p.Ser3091fs)
|
rs2103895390
|
|
NM_001378454.1(ALMS1):c.9325C>T (p.Gln3109Ter)
|
rs1558667813
|
|
NM_001378454.1(ALMS1):c.9340_9341del (p.Leu3114fs)
|
rs2103895650
|
|
NM_001378454.1(ALMS1):c.9352G>T (p.Gly3118Ter)
|
rs2103895712
|
|
NM_001378454.1(ALMS1):c.9385C>T (p.Gln3129Ter)
|
rs1314034889
|
|
NM_001378454.1(ALMS1):c.9386dup (p.Pro3130fs)
|
|
|
NM_001378454.1(ALMS1):c.9419_9420del (p.Gln3140fs)
|
rs1558667882
|
|
NM_001378454.1(ALMS1):c.9430dup (p.Thr3144fs)
|
rs878855003
|
|
NM_001378454.1(ALMS1):c.9442C>T (p.Gln3148Ter)
|
rs917667192
|
|
NM_001378454.1(ALMS1):c.9474dup (p.Gln3159fs)
|
|
|
NM_001378454.1(ALMS1):c.9538C>T (p.Arg3180Ter)
|
rs563393715
|
|
NM_001378454.1(ALMS1):c.9540-2A>G
|
|
|
NM_001378454.1(ALMS1):c.9546del (p.Glu3183fs)
|
rs2103961819
|
|
NM_001378454.1(ALMS1):c.9549del (p.Lys3184fs)
|
|
|
NM_001378454.1(ALMS1):c.9619_9620del (p.Glu3207fs)
|
|
|
NM_001378454.1(ALMS1):c.9701del (p.Asn3234fs)
|
rs1273296127
|
|
NM_001378454.1(ALMS1):c.974_981del (p.Ile324_Ser325insTer)
|
rs1671343808
|
|
NM_001378454.1(ALMS1):c.9751C>T (p.Gln3251Ter)
|
|
|
NM_001378454.1(ALMS1):c.9760_9764dup (p.Phe3255fs)
|
|
|
NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter)
|
rs368412850
|
|
NM_001378454.1(ALMS1):c.9805A>T (p.Lys3269Ter)
|
|
|
NM_001378454.1(ALMS1):c.9829_9832dup (p.Tyr3278fs)
|
rs1573000963
|
|
NM_001378454.1(ALMS1):c.9834T>A (p.Tyr3278Ter)
|
rs1573000972
|
|
NM_001378454.1(ALMS1):c.9841C>T (p.Gln3281Ter)
|
|
|
NM_001378454.1(ALMS1):c.9905C>G (p.Ser3302Ter)
|
rs1673996095
|
|
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
|
|
|
NM_001378454.1(ALMS1):c.9957_9958dup (p.Arg3320fs)
|
|
|
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)
|
rs754690894
|
|
NM_001378454.1(ALMS1):c.9981_9987dup (p.Ile3330delinsCysTer)
|
|
|
NM_001378454.1(ALMS1):c.9996_9997del (p.His3332fs)
|
|
|
NM_001378609.3(OTOGL):c.6064G>T (p.Glu2022Ter)
|
rs2138034575
|
|
NM_001378609.3(OTOGL):c.6122-1G>A
|
rs952235302
|
|
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
|
|
|
NM_001378609.3(OTOGL):c.6355C>T (p.Gln2119Ter)
|
rs1343148883
|
|
NM_001378615.1(CC2D2A):c.1149+1G>A
|
rs1553827236
|
|
NM_001378615.1(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg)
|
rs762998472
|
|
NM_001378615.1(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn)
|
rs863225177
|
|
NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro)
|
rs754221308
|
|
NM_001378615.1(CC2D2A):c.2338+1G>C
|
rs2109050324
|
|
NM_001378615.1(CC2D2A):c.2624C>A (p.Ser875Ter)
|
rs200904521
|
|
NM_001378615.1(CC2D2A):c.2671G>A (p.Glu891Lys)
|
rs863225178
|
|
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)
|
rs764719093
|
|
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
|
|
|
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)
|
rs386833750
|
|
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His)
|
rs863225169
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs)
|
rs863225171
|
|
NM_001378615.1(CC2D2A):c.3772-1G>T
|
rs863225172
|
|
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter)
|
rs386833757
|
|
NM_001378615.1(CC2D2A):c.3892_3893del (p.Val1298fs)
|
rs763735590
|
|
NM_001378615.1(CC2D2A):c.3975+4_3975+7del
|
rs386833759
|
|
NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs)
|
rs1577396376
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)
|
rs863225176
|
|
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs)
|
rs772110399
|
|
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)
|
rs863225168
|
|
NM_001378615.1(CC2D2A):c.4437+1G>A
|
rs786205568
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter)
|
rs1553845300
|
|
NM_001378615.1(CC2D2A):c.4491A>C (p.Gln1497His)
|
rs863225179
|
|
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs)
|
rs863225175
|
|
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs)
|
rs746415983
|
|
NM_001378615.1(CC2D2A):c.[2803C>T];[934G>A]
|
|
|
NM_001378789.1(CERS3):c.43T>C (p.Trp15Arg)
|
rs762679102
|
|
NM_001378789.1(CERS3):c.540G>A (p.Trp180Ter)
|
|
|
NM_001378789.1(CERS3):c.609+1G>T
|
rs587776996
|
|
NM_001378789.1(CERS3):c.731G>A (p.Trp244Ter)
|
rs1567644030
|
|
NM_001379180.1(ESRRB):c.1081_1087dup (p.Val363fs)
|
|
|
NM_001379180.1(ESRRB):c.1087G>T (p.Val363Leu)
|
rs121909111
|
|
NM_001379180.1(ESRRB):c.392C>T (p.Ala131Val)
|
rs121909110
|
|
NM_001379180.1(ESRRB):c.562G>A (p.Gly188Arg)
|
rs1555342141
|
|
NM_001379180.1(ESRRB):c.608G>A (p.Arg203His)
|
rs1060499794
|
|
NM_001379180.1(ESRRB):c.850G>A (p.Gly284Ser)
|
rs375916159
|
|
NM_001379286.1(ZNF423):c.1542del (p.Asn515fs)
|
rs1596763347
|
|
NM_001379286.1(ZNF423):c.3853C>T (p.His1285Tyr)
|
rs1596988259
|
|
NM_001382391.1(CSPP1):c.-56del
|
|
|
NM_001382391.1(CSPP1):c.-69C>T
|
rs1294428066
|
|
NM_001382391.1(CSPP1):c.1083del (p.Met362fs)
|
|
|
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)
|
rs374703898
|
|
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)
|
rs886044058
|
|
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln)
|
rs760205035
|
|
NM_001382391.1(CSPP1):c.140dup (p.Ile48fs)
|
|
|
NM_001382391.1(CSPP1):c.1505del (p.Pro502fs)
|
rs1818317027
|
|
NM_001382391.1(CSPP1):c.1544_1547del (p.Asn515fs)
|
rs752908017
|
|
NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter)
|
rs756752153
|
|
NM_001382391.1(CSPP1):c.1624del (p.Ser542fs)
|
|
|
NM_001382391.1(CSPP1):c.1698-1G>C
|
rs2129554176
|
|
NM_001382391.1(CSPP1):c.1787_1790del (p.Lys596fs)
|
rs1409618249
|
|
NM_001382391.1(CSPP1):c.1817del (p.Leu606fs)
|
rs1021950925
|
|
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter)
|
rs1821344202
|
|
NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs)
|
rs1189289587
|
|
NM_001382391.1(CSPP1):c.1857_1860del (p.Lys619fs)
|
|
|
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter)
|
rs1201375699
|
|
NM_001382391.1(CSPP1):c.2104G>T (p.Glu702Ter)
|
rs1825358020
|
|
NM_001382391.1(CSPP1):c.2205del (p.Lys735fs)
|
|
|
NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter)
|
|
|
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)
|
rs1402669959
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)
|
rs587777145
|
|
NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter)
|
|
|
NM_001382391.1(CSPP1):c.2282_2283del (p.Arg761fs)
|
|
|
NM_001382391.1(CSPP1):c.2285_2286del (p.Leu762fs)
|
rs1827098991
|
|
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs)
|
rs587777140
|
|
NM_001382391.1(CSPP1):c.2372_2376del (p.Lys791fs)
|
|
|
NM_001382391.1(CSPP1):c.2373_2374del (p.Lys794fs)
|
|
|
NM_001382391.1(CSPP1):c.2379_2380del (p.Lys794fs)
|
rs1375090095
|
|
NM_001382391.1(CSPP1):c.239_240del (p.Asp79_Tyr80insTer)
|
|
|
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs)
|
rs761382780
|
|
NM_001382391.1(CSPP1):c.2463_2469del (p.Glu822fs)
|
rs863225191
|
|
NM_001382391.1(CSPP1):c.2463_2469dup (p.Glu824fs)
|
rs863225191
|
|
NM_001382391.1(CSPP1):c.2477_2478insT (p.Lys826fs)
|
|
|
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs)
|
rs755739341
|
|
NM_001382391.1(CSPP1):c.2527dup (p.Glu843fs)
|
rs1554604482
|
|
NM_001382391.1(CSPP1):c.2538+1G>T
|
rs2129560295
|
|
NM_001382391.1(CSPP1):c.2540del (p.His847fs)
|
rs1563720581
|
|
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs)
|
rs587777143
|
|
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)
|
rs1554562278
|
|
NM_001382391.1(CSPP1):c.2584del (p.Ile862fs)
|
|
|
NM_001382391.1(CSPP1):c.259_263del (p.Leu87fs)
|
|
|
NM_001382391.1(CSPP1):c.263_267del (p.Lys88fs)
|
rs2129543529
|
|
NM_001382391.1(CSPP1):c.264del (p.Glu89fs)
|
|
|
NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter)
|
|
|
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs)
|
rs863225190
|
|
NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter)
|
|
|
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter)
|
rs537456518
|
|
NM_001382391.1(CSPP1):c.2829-9_2968+11del
|
rs1554614893
|
|
NM_001382391.1(CSPP1):c.2968+1G>A
|
rs587777142
|
|
NM_001382391.1(CSPP1):c.30del (p.Glu11fs)
|
|
|
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter)
|
rs200881715
|
|
NM_001382391.1(CSPP1):c.3220+1G>A
|
rs773954226
|
|
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter)
|
rs587777141
|
|
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs)
|
|
|
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer)
|
rs1206214608
|
|
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs)
|
rs2129575958
|
|
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer)
|
rs1175214174
|
|
NM_001382391.1(CSPP1):c.419_422del (p.Asn140fs)
|
rs1371078806
|
|
NM_001382391.1(CSPP1):c.430del (p.Arg144fs)
|
rs863225192
|
|
NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter)
|
|
|
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)
|
rs766020802
|
|
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter)
|
rs587777146
|
|
NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter)
|
|
|
NM_001382391.1(CSPP1):c.923+1G>C
|
rs863225194
|
|
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)
|
rs199469706
|
|
NM_001384140.1(PCDH15):c.1441-1G>T
|
rs2133801703
|
|
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter)
|
rs1168400018
|
|
NM_001384140.1(PCDH15):c.1529del (p.Pro510fs)
|
rs767847479
|
|
NM_001384140.1(PCDH15):c.158-1G>A
|
rs876657418
|
|
NM_001384140.1(PCDH15):c.1737C>A (p.Tyr579Ter)
|
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1797C>A (p.Cys599Ter)
|
|
|
NM_001384140.1(PCDH15):c.17dup (p.Tyr6Ter)
|
|
|
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)
|
rs1057517261
|
|
NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter)
|
rs1590691343
|
|
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
|
|
|
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)
|
rs727504301
|
|
NM_001384140.1(PCDH15):c.1940C>G (p.Ser647Ter)
|
rs137853004
|
|
NM_001384140.1(PCDH15):c.1998-2A>G
|
rs397517452
|
|
NM_001384140.1(PCDH15):c.2148_2155del (p.Phe717fs)
|
rs2094144598
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384140.1(PCDH15):c.2630T>A (p.Leu877Ter)
|
rs2092876200
|
|
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer)
|
rs1589950125
|
|
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)
|
rs143842048
|
|
NM_001384140.1(PCDH15):c.2754dup (p.Met919fs)
|
|
|
NM_001384140.1(PCDH15):c.2756del (p.Met919fs)
|
rs2134904455
|
|
NM_001384140.1(PCDH15):c.2782A>T (p.Lys928Ter)
|
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
NM_001384140.1(PCDH15):c.2843_2847dup (p.Ala950fs)
|
rs2134901685
|
|
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)
|
rs770832663
|
|
NM_001384140.1(PCDH15):c.3501+2T>C
|
rs757418440
|
|
NM_001384140.1(PCDH15):c.3661C>T (p.Gln1221Ter)
|
rs1589156388
|
|
NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs)
|
rs2079481708
|
|
NM_001384140.1(PCDH15):c.3717+1G>A
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3717+1G>T
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3718-2A>G
|
rs1307471318
|
|
NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
|
|
|
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs)
|
rs1554833249
|
|
NM_001384140.1(PCDH15):c.3984-6A>G
|
rs2077015569
|
|
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)
|
rs137853003
|
|
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs)
|
rs2134714165
|
|
NM_001384140.1(PCDH15):c.4671+1164_4671+1167del
|
rs483353074
|
|
NM_001384140.1(PCDH15):c.4671+1217C>T
|
rs1056396947
|
|
NM_001384140.1(PCDH15):c.4671+1349_4671+1353dup
|
|
|
NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer)
|
rs2135421905
|
|
NM_001384140.1(PCDH15):c.785G>A (p.Gly262Asp)
|
rs137853002
|
|
NM_001384140.1(PCDH15):c.788C>A (p.Pro263Gln)
|
rs1564949059
|
|
NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter)
|
rs777587826
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
NM_001384474.1(LOXHD1):c.2863G>T (p.Glu955Ter)
|
rs548893604
|
|
NM_001384474.1(LOXHD1):c.3351-1G>A
|
rs868646051
|
|
NM_001384474.1(LOXHD1):c.3924C>A (p.Tyr1308Ter)
|
rs184966970
|
|
NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter)
|
rs373937326
|
|
NM_001384474.1(LOXHD1):c.4247G>A (p.Trp1416Ter)
|
rs2036157162
|
|
NM_001384474.1(LOXHD1):c.46del (p.Leu16fs)
|
rs1599083635
|
|
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)
|
rs75949023
|
|
NM_001384474.1(LOXHD1):c.4843G>A (p.Gly1615Arg)
|
rs768835732
|
|
NM_001384474.1(LOXHD1):c.6074del (p.Gly2025fs)
|
rs1442485603
|
|
NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs)
|
rs878853231
|
|
NM_001384474.1(LOXHD1):c.6541del (p.Ala2181fs)
|
rs2143422217
|
|
NM_001384474.1(LOXHD1):c.894T>G (p.Tyr298Ter)
|
rs886043441
|
|
NM_001384732.1(CPLANE1):c.1809_1811delinsCCAT (p.Tyr607fs)
|
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)
|
rs1561601398
|
|
NM_001384732.1(CPLANE1):c.3176del (p.Pro1059fs)
|
|
|
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs)
|
rs775263897
|
|
NM_001384732.1(CPLANE1):c.9097C>T (p.Gln3033Ter)
|
|
|
NM_001386125.1(OBSCN):c.24822C>A (p.Tyr8274Ter)
|
|
|
NM_001386140.1(MTTP):c.1237-1G>A
|
rs1560621444
|
|
NM_001386140.1(MTTP):c.1237_1344del (p.Ser413_Lys448del)
|
|
|
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile)
|
rs199422222
|
|
NM_001386140.1(MTTP):c.215del (p.Pro72fs)
|
rs1560614154
|
|
NM_001386140.1(MTTP):c.2212del (p.Ser738fs)
|
rs755681036
|
|
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr)
|
rs199422221
|
|
NM_001386140.1(MTTP):c.2342+1G>A
|
|
|
NM_001386140.1(MTTP):c.2578G>T (p.Glu860Ter)
|
rs1726269709
|
|
NM_001386140.1(MTTP):c.419dup (p.Asn140fs)
|
rs762901763
|
|
NM_001386140.1(MTTP):c.501+1G>A
|
rs2110217173
|
|
NM_001386140.1(MTTP):c.640del (p.Ala214fs)
|
rs2110218614
|
|
NM_001386140.1(MTTP):c.708_709del (p.His236fs)
|
rs1553926818
|
|
NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)
|
|
|
NM_001386678.1(ACAT1):c.120+2267_120+2268del
|
|
|
NM_001393500.2(TOMT):c.100C>T (p.Arg34Ter)
|
|
|
NM_001393500.2(TOMT):c.214T>C (p.Trp72Arg)
|
rs137853186
|
|
NM_001393500.2(TOMT):c.234C>G (p.Tyr78Ter)
|
rs137853188
|
|
NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs)
|
rs797044907
|
|
NM_001395413.1(POR):c.1320dup (p.Ile441fs)
|
rs786205875
|
|
NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter)
|
rs373613946
|
|
NM_001395413.1(POR):c.1466T>A (p.Val489Glu)
|
rs28931606
|
|
NM_001395413.1(POR):c.1724A>G (p.Tyr575Cys)
|
rs121912975
|
|
NM_001395413.1(POR):c.1826_1849del (p.Leu609_Trp617delinsArg)
|
rs786205876
|
|
NM_001395413.1(POR):c.559_571dup (p.Arg191fs)
|
rs786205878
|
|
NM_001395413.1(POR):c.722+1G>A
|
rs786205099
|
|
NM_001510.3(GRID2):c.530-12057_735+24661del36924
|
|
|
NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala)
|
|
|
NM_001510.4(GRID2):c.568C>T (p.Gln190Ter)
|
rs1732687174
|
|
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu)
|
rs606231458
|
|
NM_001543.5(NDST1):c.1926G>T (p.Glu642Asp)
|
rs606231457
|
|
NM_001543.5(NDST1):c.2126G>A (p.Arg709Gln)
|
rs606231456
|
|
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)
|
rs1568060200
|
|
NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala)
|
rs104894547
|
|
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
|
|
|
NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile)
|
rs28999111
|
|
NM_001614.5(ACTG1):c.353A>T (p.Lys118Met)
|
rs104894544
|
|
NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn)
|
rs267606630
|
|
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.791C>T (p.Pro264Leu)
|
rs104894546
|
|
NM_001614.5(ACTG1):c.830C>T (p.Thr277Ile)
|
rs2143775764
|
|
NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile)
|
rs28999112
|
|
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser)
|
rs1598551290
|
|
NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala)
|
rs104894545
|
|
NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys)
|
rs1060505036
|
|
NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp)
|
rs1060505037
|
|
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg)
|
rs781838938
|
|
NM_001692.4(ATP6V1B1):c.1155del (p.Ile386fs)
|
rs781969081
|
|
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs)
|
rs781969081
|
|
NM_001692.4(ATP6V1B1):c.1258dup (p.Tyr420fs)
|
rs2104834299
|
|
NM_001692.4(ATP6V1B1):c.1356del (p.Phe452fs)
|
rs782549406
|
|
NM_001692.4(ATP6V1B1):c.1401_1402dup (p.Phe468fs)
|
rs2104834712
|
|
NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs)
|
rs1680484812
|
|
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)
|
rs121964880
|
|
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs)
|
rs1679840658
|
|
NM_001692.4(ATP6V1B1):c.33dup (p.Leu12fs)
|
rs1679840748
|
|
NM_001692.4(ATP6V1B1):c.343_349del (p.Thr115fs)
|
|
|
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter)
|
rs1553419751
|
|
NM_001692.4(ATP6V1B1):c.67C>T (p.Arg23Ter)
|
rs1553415274
|
|
NM_001692.4(ATP6V1B1):c.687+1G>T
|
|
|
NM_001692.4(ATP6V1B1):c.91C>T (p.Arg31Ter)
|
rs121964879
|
|
NM_001692.4(ATP6V1B1):c.925G>T (p.Glu309Ter)
|
rs2104831698
|
|
NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro)
|
rs1060505031
|
|
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)
|
rs1028534806
|
|
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn)
|
rs144716013
|
|
NM_001814.6(CTSC):c.-55C>A
|
|
|
NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys)
|
|
|
NM_001814.6(CTSC):c.1047del (p.Gly350fs)
|
|
|
NM_001814.6(CTSC):c.1056del (p.Phe351_Tyr352insTer)
|
|
|
NM_001814.6(CTSC):c.1096del (p.His366fs)
|
|
|
NM_001814.6(CTSC):c.1122del (p.Phe374fs)
|
|
|
NM_001814.6(CTSC):c.1141del (p.Leu381fs)
|
rs772132996
|
|
NM_001814.6(CTSC):c.1149del (p.His382_Tyr383insTer)
|
|
|
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
|
|
|
NM_001814.6(CTSC):c.1202_1214del (p.Glu401fs)
|
|
|
NM_001814.6(CTSC):c.1246_1247del (p.Ala417fs)
|
|
|
NM_001814.6(CTSC):c.124del (p.Gln42fs)
|
|
|
NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)
|
|
|
NM_001814.6(CTSC):c.1287G>C (p.Trp429Cys)
|
|
|
NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)
|
|
|
NM_001814.6(CTSC):c.189dup (p.Val64fs)
|
|
|
NM_001814.6(CTSC):c.201C>A (p.Tyr67Ter)
|
|
|
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)
|
rs199474831
|
|
NM_001814.6(CTSC):c.21del (p.Leu7fs)
|
|
|
NM_001814.6(CTSC):c.268C>T (p.Gln90Ter)
|
|
|
NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)
|
|
|
NM_001814.6(CTSC):c.319-1G>A
|
|
|
NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)
|
|
|
NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)
|
|
|
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
|
|
|
NM_001814.6(CTSC):c.401G>A (p.Trp134Ter)
|
|
|
NM_001814.6(CTSC):c.407del (p.Cys136fs)
|
|
|
NM_001814.6(CTSC):c.415G>A (p.Gly139Arg)
|
|
|
NM_001814.6(CTSC):c.415G>C (p.Gly139Arg)
|
|
|
NM_001814.6(CTSC):c.415G>T (p.Gly139Ter)
|
|
|
NM_001814.6(CTSC):c.436del (p.Ser146fs)
|
|
|
NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)
|
|
|
NM_001814.6(CTSC):c.509dup (p.Tyr170Ter)
|
|
|
NM_001814.6(CTSC):c.526A>T (p.Lys176Ter)
|
|
|
NM_001814.6(CTSC):c.555G>A (p.Trp185Ter)
|
|
|
NM_001814.6(CTSC):c.555dup (p.Thr186fs)
|
|
|
NM_001814.6(CTSC):c.566_572del (p.Thr189fs)
|
|
|
NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)
|
|
|
NM_001814.6(CTSC):c.586_587del (p.Leu196fs)
|
|
|
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)
|
|
|
NM_001814.6(CTSC):c.606dup (p.Arg203Ter)
|
|
|
NM_001814.6(CTSC):c.622_628del (p.His208fs)
|
|
|
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)
|
|
|
NM_001814.6(CTSC):c.672dup (p.Gln225fs)
|
|
|
NM_001814.6(CTSC):c.706del (p.Asp236fs)
|
|
|
NM_001814.6(CTSC):c.725del (p.Gly242fs)
|
|
|
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
|
|
|
NM_001814.6(CTSC):c.754C>T (p.Gln252Ter)
|
|
|
NM_001814.6(CTSC):c.755A>T (p.Gln252Leu)
|
rs104894207
|
|
NM_001814.6(CTSC):c.783del (p.Phe261fs)
|
|
|
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)
|
rs587777534
|
|
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)
|
|
|
NM_001814.6(CTSC):c.857del (p.Gln286fs)
|
|
|
NM_001814.6(CTSC):c.861_863delinsTTGGGCTTAGCCCAA (p.Glu287_Val288delinsAspTrpAlaTer)
|
|
|
NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)
|
|
|
NM_001814.6(CTSC):c.889+1G>A
|
|
|
NM_001814.6(CTSC):c.890-1G>A
|
|
|
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
|
|
|
NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)
|
|
|
NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)
|
|
|
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)
|
|
|
NM_001814.6(CTSC):c.[1211delA;190_191insA]
|
|
|
NM_001814.6(CTSC):c.[716A>G;757+1G>A]
|
|
|
NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter)
|
rs121913027
|
|
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)
|
rs121913028
|
|
NM_002039.4(GAB1):c.347G>A (p.Gly116Glu)
|
rs1553950635
|
|
NM_002109.6(HARS1):c.464T>G (p.Val155Gly)
|
rs1239341211
|
|
NM_002160.4(TNC):c.5247A>T (p.Gly1749=)
|
|
|
NM_002160.4(TNC):c.5386A>T (p.Thr1796Ser)
|
rs431905513
|
|
NM_002161.6(IARS1):c.1109T>G (p.Val370Gly)
|
rs886037876
|
|
NM_002161.6(IARS1):c.1310C>T (p.Pro437Leu)
|
rs886037874
|
|
NM_002161.6(IARS1):c.1667T>C (p.Phe556Ser)
|
rs1554728327
|
|
NM_002161.6(IARS1):c.2974A>G (p.Asn992Asp)
|
rs886037877
|
|
NM_002161.6(IARS1):c.3521T>A (p.Ile1174Asn)
|
rs886037873
|
|
NM_002161.6(IARS1):c.632del (p.Pro211fs)
|
|
|
NM_002180.3(IGHMBP2):c.1082del (p.Leu361fs)
|
|
|
NM_002180.3(IGHMBP2):c.1107C>G (p.Phe369Leu)
|
rs137852670
|
|
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys)
|
rs1178427226
|
|
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)
|
rs776730737
|
|
NM_002180.3(IGHMBP2):c.1214_1223dup (p.Val409fs)
|
|
|
NM_002180.3(IGHMBP2):c.1218del (p.Thr407fs)
|
rs1594445698
|
|
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter)
|
rs137852668
|
|
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs)
|
rs1332319177
|
|
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs)
|
rs780692442
|
|
NM_002180.3(IGHMBP2):c.1230_1231del (p.His411fs)
|
|
|
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)
|
|
|
NM_002180.3(IGHMBP2):c.1305_1350del (p.Arg436fs)
|
rs777570288
|
|
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)
|
rs1566443170
|
|
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter)
|
rs372181708
|
|
NM_002180.3(IGHMBP2):c.133del (p.Val45fs)
|
rs1594415353
|
|
NM_002180.3(IGHMBP2):c.1346del (p.Met449fs)
|
rs879253865
|
|
NM_002180.3(IGHMBP2):c.1354del (p.Ala452fs)
|
|
|
NM_002180.3(IGHMBP2):c.1398del (p.Val467fs)
|
|
|
NM_002180.3(IGHMBP2):c.1477A>G (p.Thr493Ala)
|
rs2154008651
|
|
NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter)
|
rs556292818
|
|
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)
|
rs754465226
|
|
NM_002180.3(IGHMBP2):c.1615_1623del (p.Ser539_Tyr541del)
|
rs1594453111
|
|
NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu)
|
rs879253887
|
|
NM_002180.3(IGHMBP2):c.1670del (p.Pro557fs)
|
|
|
NM_002180.3(IGHMBP2):c.1681dup (p.Ile561fs)
|
rs1555247732
|
|
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs)
|
rs1311146809
|
|
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)
|
rs1000091588
|
|
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro)
|
rs1483165002
|
|
NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg)
|
rs1483165002
|
|
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)
|
rs368775789
|
|
NM_002180.3(IGHMBP2):c.1868dup (p.Leu623fs)
|
|
|
NM_002180.3(IGHMBP2):c.1876del (p.Leu626fs)
|
|
|
NM_002180.3(IGHMBP2):c.1919_1920dup (p.Glu641fs)
|
|
|
NM_002180.3(IGHMBP2):c.1969dup (p.Gln657fs)
|
|
|
NM_002180.3(IGHMBP2):c.211C>T (p.Arg71Ter)
|
rs773543257
|
|
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter)
|
rs755468547
|
|
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)
|
rs750994603
|
|
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs)
|
rs1189538200
|
|
NM_002180.3(IGHMBP2):c.242del (p.Asn81fs)
|
rs1249076926
|
|
NM_002180.3(IGHMBP2):c.2534del (p.Gln845fs)
|
|
|
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
|
rs1225532037
|
|
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter)
|
rs750024353
|
|
NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter)
|
|
|
NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter)
|
rs1373247548
|
|
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)
|
rs886043774
|
|
NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs)
|
rs754422011
|
|
NM_002180.3(IGHMBP2):c.2601_2604del (p.Lys868fs)
|
|
|
NM_002180.3(IGHMBP2):c.2611+1G>A
|
rs786205090
|
|
NM_002180.3(IGHMBP2):c.2796del (p.Cys932fs)
|
rs2154009273
|
|
NM_002180.3(IGHMBP2):c.280_286del (p.Ala94fs)
|
|
|
NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter)
|
|
|
NM_002180.3(IGHMBP2):c.2848del (p.Leu950fs)
|
|
|
NM_002180.3(IGHMBP2):c.2882_2885dup (p.Pro963fs)
|
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs)
|
rs1131691657
|
|
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)
|
rs886037759
|
|
NM_002180.3(IGHMBP2):c.317_318insA (p.Thr107fs)
|
|
|
NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter)
|
rs1015531394
|
|
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)
|
rs972425138
|
|
NM_002180.3(IGHMBP2):c.408_409del (p.Leu137fs)
|
|
|
NM_002180.3(IGHMBP2):c.449+1G>A
|
rs797044802
|
|
NM_002180.3(IGHMBP2):c.449+1G>T
|
rs797044802
|
|
NM_002180.3(IGHMBP2):c.467del (p.Lys156fs)
|
rs2154006724
|
|
NM_002180.3(IGHMBP2):c.496_499del (p.Ser165_Leu166insTer)
|
|
|
NM_002180.3(IGHMBP2):c.586C>T (p.Gln196Ter)
|
|
|
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)
|
rs137852666
|
|
NM_002180.3(IGHMBP2):c.653del (p.Thr218fs)
|
|
|
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs)
|
rs779716706
|
|
NM_002180.3(IGHMBP2):c.673del (p.Val225fs)
|
rs1858438320
|
|
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs)
|
rs786205089
|
|
NM_002180.3(IGHMBP2):c.688C>T (p.Gln230Ter)
|
|
|
NM_002180.3(IGHMBP2):c.696_700del (p.Lys233fs)
|
rs2154006948
|
|
NM_002180.3(IGHMBP2):c.711+1G>A
|
|
|
NM_002180.3(IGHMBP2):c.763_767del (p.Leu255fs)
|
rs2154007211
|
|
NM_002180.3(IGHMBP2):c.780del (p.Gln260fs)
|
rs1594427564
|
|
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His)
|
rs777575504
|
|
NM_002180.3(IGHMBP2):c.797del (p.Gly266fs)
|
|
|
NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)
|
rs1566430156
|
|
NM_002180.3(IGHMBP2):c.891del (p.Lys298fs)
|
|
|
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)
|
rs557416644
|
|
NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)
|
rs863224880
|
|
NM_002180.3(IGHMBP2):c.948_949del (p.Lys316_Ser317insTer)
|
|
|
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)
|
rs746581714
|
|
NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter)
|
rs1580817729
|
|
NM_002226.5(JAG2):c.1219_1225del (p.Phe407fs)
|
rs2140979845
|
|
NM_002226.5(JAG2):c.221G>C (p.Cys74Ser)
|
rs2141000225
|
|
NM_002226.5(JAG2):c.490G>A (p.Glu164Lys)
|
rs1888570315
|
|
NM_002226.5(JAG2):c.728C>A (p.Ala243Asp)
|
rs867073471
|
|
NM_002230.4(JUP):c.1121G>A (p.Trp374Ter)
|
|
|
NM_002230.4(JUP):c.1205_1206del (p.Val402fs)
|
|
|
NM_002230.4(JUP):c.1258_1261del (p.Cys420fs)
|
|
|
NM_002230.4(JUP):c.1455_1462del (p.Val486fs)
|
rs1597801392
|
|
NM_002230.4(JUP):c.1615C>T (p.Gln539Ter)
|
rs797046139
|
|
NM_002230.4(JUP):c.1639C>T (p.Gln547Ter)
|
rs2143456924
|
|
NM_002230.4(JUP):c.1807del (p.Val603fs)
|
rs1597782553
|
|
NM_002230.4(JUP):c.1870G>T (p.Glu624Ter)
|
rs2143426682
|
|
NM_002230.4(JUP):c.1876dup (p.Ala626fs)
|
|
|
NM_002230.4(JUP):c.188del (p.Gln63fs)
|
rs1555606936
|
|
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs)
|
rs113994177
|
|
NM_002230.4(JUP):c.2039G>A (p.Trp680Ter)
|
rs2143416425
|
|
NM_002230.4(JUP):c.222C>G (p.Tyr74Ter)
|
rs2143697976
|
|
NM_002230.4(JUP):c.468G>A (p.Pro156=)
|
rs886037753
|
|
NM_002230.4(JUP):c.532_542del (p.Ala178fs)
|
rs2143683612
|
|
NM_002230.4(JUP):c.545C>A (p.Ser182Ter)
|
rs145592971
|
|
NM_002230.4(JUP):c.654del (p.Leu219fs)
|
rs2143680611
|
|
NM_002230.4(JUP):c.687del (p.Ala230fs)
|
|
|
NM_002230.4(JUP):c.71C>A (p.Ser24Ter)
|
rs782460555
|
|
NM_002230.4(JUP):c.781_796del (p.Lys261fs)
|
rs2143651415
|
|
NM_002230.4(JUP):c.873C>A (p.Cys291Ter)
|
|
|
NM_002230.4(JUP):c.916del (p.Ile306fs)
|
|
|
NM_002241.5(KCNJ10):c.581C>A (p.Pro194His)
|
rs137853073
|
|
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter)
|
rs137853067
|
|
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile)
|
rs863224884
|
|
NM_002292.3(LAMB2):c.1037_1038del
|
rs1170845795
|
|
NM_002292.3(LAMB2):c.[1307delG];[3798-1G>C]
|
|
|
NM_002292.4(LAMB2):c.1122T>A (p.Cys374Ter)
|
rs121912490
|
|
NM_002292.4(LAMB2):c.1241_1242dup (p.Met415fs)
|
rs1367444910
|
|
NM_002292.4(LAMB2):c.1276del (p.His426fs)
|
rs2107643346
|
|
NM_002292.4(LAMB2):c.1405+1G>A
|
|
|
NM_002292.4(LAMB2):c.1934dup (p.Gly646fs)
|
rs750538204
|
|
NM_002292.4(LAMB2):c.2018+2T>C
|
|
|
NM_002292.4(LAMB2):c.2067C>G (p.Tyr689Ter)
|
rs121912489
|
|
NM_002292.4(LAMB2):c.2249dup (p.His750fs)
|
|
|
NM_002292.4(LAMB2):c.2494C>T (p.Gln832Ter)
|
|
|
NM_002292.4(LAMB2):c.2884+1del
|
|
|
NM_002292.4(LAMB2):c.3015del (p.Gln1006fs)
|
rs1560072794
|
|
NM_002292.4(LAMB2):c.3094C>T (p.Arg1032Ter)
|
|
|
NM_002292.4(LAMB2):c.3218del (p.Gly1073fs)
|
|
|
NM_002292.4(LAMB2):c.3251G>A (p.Trp1084Ter)
|
|
|
NM_002292.4(LAMB2):c.3328-1G>C
|
|
|
NM_002292.4(LAMB2):c.3477_3483del (p.Gly1160fs)
|
rs1357326383
|
|
NM_002292.4(LAMB2):c.3517dup (p.Cys1173fs)
|
|
|
NM_002292.4(LAMB2):c.3690_3697del (p.Ser1230fs)
|
|
|
NM_002292.4(LAMB2):c.3882_3892del (p.Asn1294fs)
|
rs2045374891
|
|
NM_002292.4(LAMB2):c.4198_4199del (p.Leu1400fs)
|
|
|
NM_002292.4(LAMB2):c.4510_4552del (p.Gln1504fs)
|
rs2045352880
|
|
NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs)
|
rs1553776921
|
|
NM_002292.4(LAMB2):c.4806_4807del (p.Lys1603fs)
|
|
|
NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs)
|
rs1560063136
|
|
NM_002292.4(LAMB2):c.752_756dup (p.His253fs)
|
|
|
NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu)
|
rs397514664
|
|
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter)
|
rs121908661
|
|
NM_002335.4(LRP5):c.1453G>T (p.Glu485Ter)
|
rs121908666
|
|
NM_002335.4(LRP5):c.1468del (p.Asp490fs)
|
rs1554967141
|
|
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)
|
rs121908664
|
|
NM_002335.4(LRP5):c.1512G>A (p.Trp504Ter)
|
rs545508982
|
|
NM_002335.4(LRP5):c.1584+1G>A
|
rs1554967176
|
|
NM_002335.4(LRP5):c.1655C>T (p.Thr552Met)
|
rs397514663
|
|
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp)
|
rs121908665
|
|
NM_002335.4(LRP5):c.2151dup (p.Asp718Ter)
|
rs121908662
|
|
NM_002335.4(LRP5):c.2305del (p.Asp769fs)
|
rs1554971145
|
|
NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter)
|
rs121908663
|
|
NM_002335.4(LRP5):c.29G>A (p.Trp10Ter)
|
rs121908660
|
|
NM_002335.4(LRP5):c.3804del (p.Glu1270fs)
|
rs80358319
|
|
NM_002335.4(LRP5):c.433C>T (p.Leu145Phe)
|
rs80358305
|
|
NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter)
|
rs149645175
|
|
NM_002454.3(MTRR):c.1020C>A (p.Cys340Ter)
|
|
|
NM_002454.3(MTRR):c.1048_1049del (p.Lys350fs)
|
rs2126745614
|
|
NM_002454.3(MTRR):c.1049_1052del (p.Lys350fs)
|
rs2126745648
|
|
NM_002454.3(MTRR):c.109dup (p.Cys37fs)
|
rs1747853230
|
|
NM_002454.3(MTRR):c.1123G>T (p.Glu375Ter)
|
rs772547714
|
|
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)
|
|
|
NM_002454.3(MTRR):c.1155_1156delinsAT (p.Arg386Ter)
|
rs1737110583
|
|
NM_002454.3(MTRR):c.1163_1188del (p.Leu388fs)
|
rs1561245416
|
|
NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs)
|
rs1579758005
|
|
NM_002454.3(MTRR):c.1219A>T (p.Lys407Ter)
|
|
|
NM_002454.3(MTRR):c.1314_1315insCTGCCAGCCACCACTC (p.Ser439fs)
|
rs2126772123
|
|
NM_002454.3(MTRR):c.132T>A (p.Tyr44Ter)
|
|
|
NM_002454.3(MTRR):c.132T>G (p.Tyr44Ter)
|
|
|
NM_002454.3(MTRR):c.1339A>T (p.Lys447Ter)
|
rs1440404360
|
|
NM_002454.3(MTRR):c.1355_1361dup (p.Cys455fs)
|
|
|
NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter)
|
|
|
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter)
|
rs1554006017
|
|
NM_002454.3(MTRR):c.1394dup (p.Leu466fs)
|
|
|
NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)
|
|
|
NM_002454.3(MTRR):c.1441dup (p.Thr481fs)
|
|
|
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg)
|
rs137853061
|
|
NM_002454.3(MTRR):c.1474del (p.Trp492fs)
|
|
|
NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)
|
|
|
NM_002454.3(MTRR):c.1476del (p.Trp492fs)
|
rs2126793645
|
|
NM_002454.3(MTRR):c.1504C>T (p.Gln502Ter)
|
rs1737852706
|
|
NM_002454.3(MTRR):c.1612dup (p.Ile538fs)
|
rs757800887
|
|
NM_002454.3(MTRR):c.1622_1623dup (p.Met542Ter)
|
rs2126808021
|
|
NM_002454.3(MTRR):c.1631del (p.Gly544fs)
|
|
|
NM_002454.3(MTRR):c.1643del (p.Gly548fs)
|
|
|
NM_002454.3(MTRR):c.1652dup (p.Phe552fs)
|
rs2126808162
|
|
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs)
|
rs768980918
|
|
NM_002454.3(MTRR):c.1725GTT[1] (p.Leu576del)
|
rs2126812944
|
|
NM_002454.3(MTRR):c.1728del (p.Leu576fs)
|
rs2126812977
|
|
NM_002454.3(MTRR):c.227del (p.Ile76fs)
|
|
|
NM_002454.3(MTRR):c.228dup (p.Gln77fs)
|
rs2126663415
|
|
NM_002454.3(MTRR):c.263del (p.His88fs)
|
|
|
NM_002454.3(MTRR):c.270del (p.Tyr91fs)
|
rs1579619636
|
|
NM_002454.3(MTRR):c.290del (p.Gly97fs)
|
|
|
NM_002454.3(MTRR):c.324del (p.Lys109fs)
|
rs1189298981
|
|
NM_002454.3(MTRR):c.340del (p.Arg114fs)
|
rs2126675629
|
|
NM_002454.3(MTRR):c.354_358del (p.Gly119fs)
|
rs2126675707
|
|
NM_002454.3(MTRR):c.397_398del (p.Val133fs)
|
|
|
NM_002454.3(MTRR):c.441G>A (p.Trp147Ter)
|
|
|
NM_002454.3(MTRR):c.467C>G (p.Ser156Ter)
|
|
|
NM_002454.3(MTRR):c.495dup (p.Ala166fs)
|
|
|
NM_002454.3(MTRR):c.645_648del (p.Gln216fs)
|
|
|
NM_002454.3(MTRR):c.718_719del (p.Leu240fs)
|
rs1207820860
|
|
NM_002454.3(MTRR):c.734del (p.Leu245fs)
|
rs1734927527
|
|
NM_002454.3(MTRR):c.740del (p.Pro247fs)
|
rs752858024
|
|
NM_002454.3(MTRR):c.741del (p.Glu248fs)
|
rs1734931275
|
|
NM_002454.3(MTRR):c.754del (p.Val252fs)
|
|
|
NM_002454.3(MTRR):c.815del (p.Pro272fs)
|
rs2126727585
|
|
NM_002454.3(MTRR):c.861dup (p.Asp288Ter)
|
|
|
NM_002454.3(MTRR):c.901del (p.Ser301fs)
|
|
|
NM_002454.3(MTRR):c.908_909del (p.Thr303fs)
|
|
|
NM_002454.3(MTRR):c.920dup (p.Tyr307Ter)
|
|
|
NM_002454.3(MTRR):c.930_934del (p.Asp311fs)
|
|
|
NM_002470.4(MYH3):c.1141+131_3256del
|
|
|
NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter)
|
rs1567564042
|
|
NM_002470.4(MYH3):c.2045C>A (p.Pro682Gln)
|
rs2142402072
|
|
NM_002470.4(MYH3):c.2103G>C (p.Glu701Asp)
|
rs2142401800
|
|
NM_002470.4(MYH3):c.2501T>C (p.Phe834Ser)
|
rs2142400070
|
|
NM_002470.4(MYH3):c.4647+1G>A
|
rs1567552713
|
|
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)
|
rs80338826
|
|
NM_002473.6(MYH9):c.2114G>A (p.Arg705His)
|
rs80338828
|
|
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)
|
rs121913657
|
|
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)
|
rs80338829
|
|
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
|
rs80338831
|
|
NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu)
|
rs727503284
|
|
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)
|
rs80338834
|
|
NM_002485.4(NBN):c.897-?_2184+?del
|
|
|
NM_002485.4(NBN):c.[1030C>T];[842T>G]
|
|
|
NM_002485.5(NBN):c.1028C>G (p.Ser343Ter)
|
rs1810856747
|
|
NM_002485.5(NBN):c.1038_1039dup (p.Ser347fs)
|
rs1554560432
|
|
NM_002485.5(NBN):c.1044del (p.Asp349fs)
|
|
|
NM_002485.5(NBN):c.105_135del (p.Ile35fs)
|
rs730881840
|
|
NM_002485.5(NBN):c.1071dup (p.Val358fs)
|
rs2129745554
|
|
NM_002485.5(NBN):c.1072del (p.Pro357_Val358insTer)
|
rs2129745511
|
|
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)
|
rs2129744741
|
|
NM_002485.5(NBN):c.1107dup (p.Glu370fs)
|
rs2129744712
|
|
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)
|
rs1057519588
|
|
NM_002485.5(NBN):c.113_114insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGA (p.Asp38delinsGluAlaGlyArgGlyGlySerArgLeuTer)
|
rs2129925072
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.1146del (p.Glu383fs)
|
rs1586059584
|
|
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)
|
rs772909239
|
|
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs)
|
rs748513310
|
|
NM_002485.5(NBN):c.1155dup (p.Val386fs)
|
rs748513310
|
|
NM_002485.5(NBN):c.115C>T (p.Gln39Ter)
|
rs377730553
|
|
NM_002485.5(NBN):c.115del (p.Gln39fs)
|
rs864622511
|
|
NM_002485.5(NBN):c.1165dup (p.Met389fs)
|
rs2129721709
|
|
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter)
|
rs2129721628
|
|
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter)
|
rs1554559323
|
|
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter)
|
rs1554559308
|
|
NM_002485.5(NBN):c.1190C>G (p.Ser397Ter)
|
rs1554559308
|
|
NM_002485.5(NBN):c.1192C>T (p.Gln398Ter)
|
rs2129721263
|
|
NM_002485.5(NBN):c.1203_1206dup (p.Val403fs)
|
rs1810667631
|
|
NM_002485.5(NBN):c.1203del (p.Thr402fs)
|
|
|
NM_002485.5(NBN):c.1221C>A (p.Cys407Ter)
|
|
|
NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)
|
|
|
NM_002485.5(NBN):c.1225del (p.Thr409fs)
|
rs2129720423
|
|
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer)
|
rs2129720196
|
|
NM_002485.5(NBN):c.1253C>A (p.Ser418Ter)
|
rs1554559212
|
|
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)
|
rs1238152597
|
|
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)
|
|
|
NM_002485.5(NBN):c.1314del (p.Ser438fs)
|
|
|
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)
|
rs1554559094
|
|
NM_002485.5(NBN):c.1332dup (p.Arg445Ter)
|
rs1586058444
|
|
NM_002485.5(NBN):c.1336del (p.Ala446fs)
|
rs1554559083
|
|
NM_002485.5(NBN):c.1362dup (p.Ile455fs)
|
rs2129717307
|
|
NM_002485.5(NBN):c.1366del (p.Arg456fs)
|
rs1554559038
|
|
NM_002485.5(NBN):c.1374C>G (p.Tyr458Ter)
|
|
|
NM_002485.5(NBN):c.1377dup (p.Gln460fs)
|
rs1554559028
|
|
NM_002485.5(NBN):c.1393A>T (p.Lys465Ter)
|
rs1563530658
|
|
NM_002485.5(NBN):c.1396del (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1396dup (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1397+1del
|
rs1060503467
|
|
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)
|
rs1554558613
|
|
NM_002485.5(NBN):c.1405del (p.Asp469fs)
|
rs2129704309
|
|
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter)
|
rs755805461
|
|
NM_002485.5(NBN):c.1419_1431dup (p.Cys478fs)
|
rs864622333
|
|
NM_002485.5(NBN):c.141_142del (p.Leu48fs)
|
rs750375741
|
|
NM_002485.5(NBN):c.1434C>A (p.Cys478Ter)
|
|
|
NM_002485.5(NBN):c.143T>G (p.Leu48Ter)
|
rs2129924518
|
|
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)
|
rs587782130
|
|
NM_002485.5(NBN):c.1478_1481del (p.Thr493fs)
|
rs1586054483
|
|
NM_002485.5(NBN):c.1480C>T (p.Gln494Ter)
|
|
|
NM_002485.5(NBN):c.1480_1481del (p.Gln494fs)
|
rs1586054483
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.1488_1491dup (p.Pro498fs)
|
|
|
NM_002485.5(NBN):c.1496C>A (p.Ser499Ter)
|
rs772411713
|
|
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter)
|
rs772411713
|
|
NM_002485.5(NBN):c.14_23del (p.Leu5fs)
|
rs2129938178
|
|
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)
|
rs1554558472
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.1516C>T (p.Gln506Ter)
|
rs876658535
|
|
NM_002485.5(NBN):c.1523dup (p.Ser509fs)
|
rs1586054199
|
|
NM_002485.5(NBN):c.1526dup (p.Ser509_Glu510insTer)
|
rs1563526747
|
|
NM_002485.5(NBN):c.1528G>T (p.Glu510Ter)
|
|
|
NM_002485.5(NBN):c.1553C>G (p.Ser518Ter)
|
rs1060503480
|
|
NM_002485.5(NBN):c.1554del (p.Asp519fs)
|
rs2129701175
|
|
NM_002485.5(NBN):c.1554dup (p.Asp519fs)
|
rs1554558423
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1583T>A (p.Leu528Ter)
|
|
|
NM_002485.5(NBN):c.1583T>G (p.Leu528Ter)
|
rs2129700612
|
|
NM_002485.5(NBN):c.1587dup (p.Ser530fs)
|
rs1057516332
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer)
|
rs776417262
|
|
NM_002485.5(NBN):c.1642_1661del (p.Ser547_Asn548insTer)
|
rs2129699105
|
|
NM_002485.5(NBN):c.1644dup (p.Lys549Ter)
|
rs2129699596
|
|
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)
|
rs1810540992
|
|
NM_002485.5(NBN):c.1647_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1651dup (p.Arg551fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1654dup (p.Glu552fs)
|
rs760237820
|
|
NM_002485.5(NBN):c.1675dup (p.Glu559fs)
|
rs1563525678
|
|
NM_002485.5(NBN):c.1693C>T (p.Gln565Ter)
|
rs1586053399
|
|
NM_002485.5(NBN):c.1693_1694del (p.Gln565fs)
|
|
|
NM_002485.5(NBN):c.1695_1698dup (p.Phe567fs)
|
rs1279184426
|
|
NM_002485.5(NBN):c.1697dup (p.Leu566fs)
|
rs1586053378
|
|
NM_002485.5(NBN):c.1700_1760dup (p.Val587_Asn588insGlnGlyHisLysThrArgValArgAsnTer)
|
rs1810527499
|
|
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)
|
rs786201745
|
|
NM_002485.5(NBN):c.1726del (p.Ile576fs)
|
|
|
NM_002485.5(NBN):c.1737del (p.Val580fs)
|
rs1563525210
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.1747dup (p.Gln583fs)
|
rs1810529464
|
|
NM_002485.5(NBN):c.1750G>T (p.Glu584Ter)
|
rs1554558270
|
|
NM_002485.5(NBN):c.1769del (p.Arg590fs)
|
rs1563525004
|
|
NM_002485.5(NBN):c.1778_1779insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAAGGCC (p.Pro593_Arg594insAlaGlyArgGlyGlySerArgLeuTer)
|
rs2129696816
|
|
NM_002485.5(NBN):c.177_180del (p.Thr60fs)
|
|
|
NM_002485.5(NBN):c.1780del (p.Arg594fs)
|
rs1586052920
|
|
NM_002485.5(NBN):c.1787_1788insC (p.Ile597fs)
|
rs1586052851
|
|
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter)
|
rs1554558199
|
|
NM_002485.5(NBN):c.183del (p.Asp61fs)
|
rs587782147
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
NM_002485.5(NBN):c.1849G>T (p.Glu617Ter)
|
rs766602873
|
|
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs)
|
rs1060503466
|
|
NM_002485.5(NBN):c.1860del (p.Ile620fs)
|
rs1810270891
|
|
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)
|
rs1178384498
|
|
NM_002485.5(NBN):c.1889C>A (p.Ser630Ter)
|
rs1810267412
|
|
NM_002485.5(NBN):c.188del (p.Ile63fs)
|
rs876659592
|
|
NM_002485.5(NBN):c.1895G>A (p.Trp632Ter)
|
rs2129659855
|
|
NM_002485.5(NBN):c.1896G>A (p.Trp632Ter)
|
|
|
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)
|
rs1563516254
|
|
NM_002485.5(NBN):c.1912del (p.Ser638fs)
|
|
|
NM_002485.5(NBN):c.1923dup (p.Lys642fs)
|
|
|
NM_002485.5(NBN):c.1939del (p.Ser647fs)
|
rs2129648967
|
|
NM_002485.5(NBN):c.1958dup (p.Leu654fs)
|
rs780235686
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.1982C>G (p.Ser661Ter)
|
rs1810183784
|
|
NM_002485.5(NBN):c.1986_2001del (p.Val663fs)
|
rs2129647483
|
|
NM_002485.5(NBN):c.1992dup (p.Lys665Ter)
|
rs2129647777
|
|
NM_002485.5(NBN):c.1993A>T (p.Lys665Ter)
|
rs1554556544
|
|
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs)
|
rs1057516852
|
|
NM_002485.5(NBN):c.2007del (p.Arg670fs)
|
|
|
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs)
|
rs1036111786
|
|
NM_002485.5(NBN):c.2041C>T (p.Gln681Ter)
|
rs1554556485
|
|
NM_002485.5(NBN):c.2056A>T (p.Lys686Ter)
|
rs786203920
|
|
NM_002485.5(NBN):c.2059A>T (p.Lys687Ter)
|
rs2130763590
|
|
NM_002485.5(NBN):c.205_212del (p.Lys69fs)
|
rs2129915884
|
|
NM_002485.5(NBN):c.2069del (p.Lys690fs)
|
|
|
NM_002485.5(NBN):c.2071del
|
rs2130756322
|
|
NM_002485.5(NBN):c.2077dup (p.Tyr693fs)
|
|
|
NM_002485.5(NBN):c.2083G>T (p.Gly695Ter)
|
rs1554555835
|
|
NM_002485.5(NBN):c.2089G>T (p.Gly697Ter)
|
rs1038132485
|
|
NM_002485.5(NBN):c.208_209insTA (p.Asp70fs)
|
rs2129915990
|
|
NM_002485.5(NBN):c.2097_2098del (p.Pro700fs)
|
rs2130756068
|
|
NM_002485.5(NBN):c.2097_2098insA (p.Pro700fs)
|
|
|
NM_002485.5(NBN):c.2097dup (p.Pro700fs)
|
|
|
NM_002485.5(NBN):c.2099del (p.Pro700fs)
|
rs1301956720
|
|
NM_002485.5(NBN):c.2102del (p.His701fs)
|
rs1810038215
|
|
NM_002485.5(NBN):c.210_211del (p.Asp70fs)
|
rs786202494
|
|
NM_002485.5(NBN):c.210_211dup (p.Asn71fs)
|
rs786202494
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
NM_002485.5(NBN):c.212_215del (p.Asn71fs)
|
rs1064795634
|
|
NM_002485.5(NBN):c.2139_2140delinsCT (p.Arg714Ter)
|
|
|
NM_002485.5(NBN):c.2140_2143del (p.Lys715fs)
|
rs1810034093
|
|
NM_002485.5(NBN):c.2140del (p.Arg714fs)
|
rs1810034741
|
|
NM_002485.5(NBN):c.2145_2147delinsT (p.Lys715fs)
|
rs1810033651
|
|
NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)
|
|
|
NM_002485.5(NBN):c.2152del (p.Glu718fs)
|
|
|
NM_002485.5(NBN):c.2156_2157insTT (p.Leu719_Glu720insTer)
|
|
|
NM_002485.5(NBN):c.2156dup (p.Glu720fs)
|
rs1586035111
|
|
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)
|
rs1064795816
|
|
NM_002485.5(NBN):c.2165G>A (p.Trp722Ter)
|
rs786204181
|
|
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs)
|
rs1554568348
|
|
NM_002485.5(NBN):c.2172_2173delinsTT (p.Arg724_Gln725delinsSerTer)
|
rs2130755275
|
|
NM_002485.5(NBN):c.2173C>T (p.Gln725Ter)
|
rs1810030774
|
|
NM_002485.5(NBN):c.217A>T (p.Lys73Ter)
|
rs2129915767
|
|
NM_002485.5(NBN):c.2188C>T (p.Gln730Ter)
|
rs1554554267
|
|
NM_002485.5(NBN):c.222T>G (p.Tyr74Ter)
|
rs1563581193
|
|
NM_002485.5(NBN):c.226dup (p.Thr76fs)
|
rs1554568340
|
|
NM_002485.5(NBN):c.228_231dup (p.Val78fs)
|
rs2129915522
|
|
NM_002485.5(NBN):c.231dup (p.Val78fs)
|
rs1586108827
|
|
NM_002485.5(NBN):c.241G>T (p.Glu81Ter)
|
rs1064795037
|
|
NM_002485.5(NBN):c.247dup (p.Met83fs)
|
|
|
NM_002485.5(NBN):c.250C>T (p.Gln84Ter)
|
rs1586108714
|
|
NM_002485.5(NBN):c.269del (p.Thr90fs)
|
|
|
NM_002485.5(NBN):c.26del (p.Gly9fs)
|
rs1060503485
|
|
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer)
|
rs1586108633
|
|
NM_002485.5(NBN):c.278C>A (p.Ser93Ter)
|
rs12721593
|
|
NM_002485.5(NBN):c.283del (p.Asp95fs)
|
rs2129914556
|
|
NM_002485.5(NBN):c.292dup (p.Thr98fs)
|
|
|
NM_002485.5(NBN):c.298G>T (p.Gly100Ter)
|
rs2129914287
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
NM_002485.5(NBN):c.330dup (p.Glu111Ter)
|
rs2129910887
|
|
NM_002485.5(NBN):c.335del (p.Pro112fs)
|
rs2129910740
|
|
NM_002485.5(NBN):c.352del (p.Ser118fs)
|
rs2129910401
|
|
NM_002485.5(NBN):c.353del (p.Ser118fs)
|
|
|
NM_002485.5(NBN):c.359T>G (p.Leu120Ter)
|
rs1563579387
|
|
NM_002485.5(NBN):c.377del (p.Thr126fs)
|
rs1554567972
|
|
NM_002485.5(NBN):c.38-12A>G
|
rs773524364
|
|
NM_002485.5(NBN):c.383T>G (p.Leu128Ter)
|
rs1060503463
|
|
NM_002485.5(NBN):c.393_400del (p.Ile132fs)
|
rs2129909528
|
|
NM_002485.5(NBN):c.407dup (p.Gly137fs)
|
rs747462107
|
|
NM_002485.5(NBN):c.429G>A (p.Trp143Ter)
|
rs1812023981
|
|
NM_002485.5(NBN):c.436G>T (p.Glu146Ter)
|
rs1812023357
|
|
NM_002485.5(NBN):c.445del (p.His149fs)
|
rs1554567892
|
|
NM_002485.5(NBN):c.448del (p.Val151fs)
|
rs1563578727
|
|
NM_002485.5(NBN):c.468del (p.Val157fs)
|
rs1563578596
|
|
NM_002485.5(NBN):c.46_49del (p.Tyr16fs)
|
rs1812139426
|
|
NM_002485.5(NBN):c.474del (p.Ile159fs)
|
rs1563578540
|
|
NM_002485.5(NBN):c.481-2A>C
|
rs751567476
|
|
NM_002485.5(NBN):c.481-2A>G
|
rs751567476
|
|
NM_002485.5(NBN):c.489T>A (p.Cys163Ter)
|
|
|
NM_002485.5(NBN):c.48C>G (p.Tyr16Ter)
|
rs2129926091
|
|
NM_002485.5(NBN):c.48_49del (p.Tyr16_Arg17delinsTer)
|
|
|
NM_002485.5(NBN):c.492dup (p.Leu165fs)
|
rs1586101609
|
|
NM_002485.5(NBN):c.496_512del (p.Ile166fs)
|
rs758830069
|
|
NM_002485.5(NBN):c.499dup (p.Cys167fs)
|
rs1586101561
|
|
NM_002485.5(NBN):c.4del (p.Trp2fs)
|
rs1275657359
|
|
NM_002485.5(NBN):c.520_521insT (p.Pro174fs)
|
rs2129889298
|
|
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs)
|
rs1554566678
|
|
NM_002485.5(NBN):c.548del (p.Ala183fs)
|
|
|
NM_002485.5(NBN):c.552_556del (p.Glu185fs)
|
rs2129888420
|
|
NM_002485.5(NBN):c.55_56del (p.Leu19fs)
|
rs876659305
|
|
NM_002485.5(NBN):c.565C>T (p.Gln189Ter)
|
rs1198614767
|
|
NM_002485.5(NBN):c.565del (p.Gln189fs)
|
rs1811864250
|
|
NM_002485.5(NBN):c.56del (p.Leu18_Leu19insTer)
|
rs876659305
|
|
NM_002485.5(NBN):c.580G>T (p.Glu194Ter)
|
rs1554566610
|
|
NM_002485.5(NBN):c.580del (p.Glu194fs)
|
|
|
NM_002485.5(NBN):c.584+2T>C
|
rs1586101154
|
|
NM_002485.5(NBN):c.589dup (p.Tyr197fs)
|
rs1586088924
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
NM_002485.5(NBN):c.5G>A (p.Trp2Ter)
|
rs1812244679
|
|
NM_002485.5(NBN):c.604G>T (p.Glu202Ter)
|
rs1811506628
|
|
NM_002485.5(NBN):c.626del (p.Asn209fs)
|
rs2129838943
|
|
NM_002485.5(NBN):c.649G>T (p.Glu217Ter)
|
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.667_668insTTTATATTTTTATTATATAAAATATAATAAAGAAAACATTTATATTTTATAATATAAAAATATTATATTATATATAAAATATAATAAAGAAAACATTATATA (p.Lys223delinsIleTyrIlePheIleIleTer)
|
|
|
NM_002485.5(NBN):c.676del (p.Thr226fs)
|
rs1563561558
|
|
NM_002485.5(NBN):c.68del (p.Glu23fs)
|
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002485.5(NBN):c.6G>A (p.Trp2Ter)
|
rs876661130
|
|
NM_002485.5(NBN):c.700C>T (p.Gln234Ter)
|
|
|
NM_002485.5(NBN):c.721_722insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATTGAGTTCCG (p.Ala241delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaLysLysLysLysLysLysLysArgAsnTer)
|
|
|
NM_002485.5(NBN):c.737del (p.Gly246fs)
|
rs1811464751
|
|
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)
|
rs864309670
|
|
NM_002485.5(NBN):c.742G>T (p.Glu248Ter)
|
rs1811464271
|
|
NM_002485.5(NBN):c.742dup (p.Glu248fs)
|
|
|
NM_002485.5(NBN):c.75dup (p.Val26fs)
|
rs1199711768
|
|
NM_002485.5(NBN):c.765_801del (p.Asn256fs)
|
rs2129829309
|
|
NM_002485.5(NBN):c.785_786delinsAA (p.Phe262Ter)
|
rs2129829803
|
|
NM_002485.5(NBN):c.78dup (p.Gly27fs)
|
|
|
NM_002485.5(NBN):c.794dup (p.Pro266fs)
|
|
|
NM_002485.5(NBN):c.800dup (p.Thr268fs)
|
rs1554563955
|
|
NM_002485.5(NBN):c.808_809del (p.Val270fs)
|
rs786202490
|
|
NM_002485.5(NBN):c.817dup (p.Thr273fs)
|
rs730881839
|
|
NM_002485.5(NBN):c.830del (p.Asn277fs)
|
|
|
NM_002485.5(NBN):c.832_835del (p.Ser278fs)
|
|
|
NM_002485.5(NBN):c.836_839del (p.Gln279fs)
|
rs864309668
|
|
NM_002485.5(NBN):c.836del (p.Gln279fs)
|
rs1554563878
|
|
NM_002485.5(NBN):c.83_89del (p.Arg28fs)
|
rs1554569106
|
|
NM_002485.5(NBN):c.842dup (p.Leu281fs)
|
rs864309669
|
|
NM_002485.5(NBN):c.848del (p.Pro283fs)
|
rs2129827996
|
|
NM_002485.5(NBN):c.851_854del (p.Asp284fs)
|
rs2129827880
|
|
NM_002485.5(NBN):c.855T>A (p.Cys285Ter)
|
|
|
NM_002485.5(NBN):c.857dup (p.Lys287fs)
|
|
|
NM_002485.5(NBN):c.864del (p.Lys288fs)
|
|
|
NM_002485.5(NBN):c.871C>T (p.Gln291Ter)
|
rs1554563822
|
|
NM_002485.5(NBN):c.872dup (p.Ser292fs)
|
rs1563559078
|
|
NM_002485.5(NBN):c.875C>G (p.Ser292Ter)
|
|
|
NM_002485.5(NBN):c.877del (p.Ser292_Ile293insTer)
|
rs1811450828
|
|
NM_002485.5(NBN):c.88_89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.900_924del (p.Gly301fs)
|
rs1057519587
|
|
NM_002485.5(NBN):c.911del (p.Pro304fs)
|
rs1563549036
|
|
NM_002485.5(NBN):c.917del (p.Pro306fs)
|
rs1554562185
|
|
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)
|
rs371480039
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
NM_002485.5(NBN):c.93_96dup (p.Ile33fs)
|
rs2129925355
|
|
NM_002485.5(NBN):c.966C>A (p.Tyr322Ter)
|
rs748453607
|
|
NM_002485.5(NBN):c.966C>G (p.Tyr322Ter)
|
rs748453607
|
|
NM_002485.5(NBN):c.966_967del (p.Tyr322_Cys323delinsTer)
|
rs1811144443
|
|
NM_002485.5(NBN):c.974del (p.Pro325fs)
|
rs1554562110
|
|
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)
|
rs121908973
|
|
NM_002485.5(NBN):c.979_980del (p.Gly327fs)
|
|
|
NM_002485.5(NBN):c.992_994+3del
|
rs1563548315
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|
NM_002617.4(PEX10):c.120del (p.Lys41fs)
|
|
|
NM_002617.4(PEX10):c.134G>A (p.Trp45Ter)
|
|
|
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
|
|
|
NM_002617.4(PEX10):c.157_158del (p.Ser53fs)
|
rs1384671249
|
|
NM_002617.4(PEX10):c.198C>G (p.Tyr66Ter)
|
|
|
NM_002617.4(PEX10):c.1A>C (p.Met1Leu)
|
|
|
NM_002617.4(PEX10):c.1A>T (p.Met1Leu)
|
rs886041314
|
|
NM_002617.4(PEX10):c.211del (p.Glu71fs)
|
|
|
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)
|
rs531987102
|
|
NM_002617.4(PEX10):c.247del (p.Arg83fs)
|
|
|
NM_002617.4(PEX10):c.26del (p.Pro9fs)
|
rs1553232917
|
|
NM_002617.4(PEX10):c.26dup (p.Glu10fs)
|
rs1553232917
|
|
NM_002617.4(PEX10):c.28dup (p.Glu10fs)
|
rs1643275394
|
|
NM_002617.4(PEX10):c.291_292insTGCTGGTGACG (p.Leu98delinsCysTrpTer)
|
rs1643093232
|
|
NM_002617.4(PEX10):c.295del (p.His99fs)
|
rs1557910651
|
|
NM_002617.4(PEX10):c.2T>C (p.Met1Thr)
|
rs724160002
|
|
NM_002617.4(PEX10):c.337del (p.Leu113fs)
|
rs724159999
|
|
NM_002617.4(PEX10):c.338del (p.Leu113fs)
|
rs878853044
|
|
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)
|
rs369965266
|
|
NM_002617.4(PEX10):c.363del (p.Asp122fs)
|
|
|
NM_002617.4(PEX10):c.387del (p.Ser130fs)
|
rs2100429148
|
|
NM_002617.4(PEX10):c.3G>A (p.Met1Ile)
|
|
|
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs)
|
rs2100429011
|
|
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
|
|
|
NM_002617.4(PEX10):c.417_418del (p.Arg142fs)
|
|
|
NM_002617.4(PEX10):c.430_439del (p.Trp144fs)
|
rs2100428812
|
|
NM_002617.4(PEX10):c.450del (p.Thr151fs)
|
|
|
NM_002617.4(PEX10):c.458_461del (p.Thr153fs)
|
|
|
NM_002617.4(PEX10):c.475del (p.Ala159fs)
|
rs2100428583
|
|
NM_002617.4(PEX10):c.486_496del (p.Ala163fs)
|
rs2100428385
|
|
NM_002617.4(PEX10):c.496del (p.Val166fs)
|
rs770937339
|
|
NM_002617.4(PEX10):c.4del (p.Ala2fs)
|
rs62636524
|
|
NM_002617.4(PEX10):c.504_507del (p.Gln169fs)
|
rs2100428321
|
|
NM_002617.4(PEX10):c.506_507del (p.Gln169fs)
|
rs1643083325
|
|
NM_002617.4(PEX10):c.509del (p.Gly170fs)
|
|
|
NM_002617.4(PEX10):c.52G>C (p.Asp18His)
|
rs61750432
|
|
NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)
|
|
|
NM_002617.4(PEX10):c.551_555del (p.Ile184fs)
|
|
|
NM_002617.4(PEX10):c.551del (p.Ile184fs)
|
rs1557910202
|
|
NM_002617.4(PEX10):c.601-14del
|
rs1643028060
|
|
NM_002617.4(PEX10):c.601-38_601-37del
|
rs1553231896
|
|
NM_002617.4(PEX10):c.601-39del
|
|
|
NM_002617.4(PEX10):c.601-3C>T
|
rs369643163
|
|
NM_002617.4(PEX10):c.601-3_601-2del
|
rs1643027426
|
|
NM_002617.4(PEX10):c.601-4dup
|
rs2100423250
|
|
NM_002617.4(PEX10):c.622G>T (p.Gly208Ter)
|
|
|
NM_002617.4(PEX10):c.637dup (p.Ala213fs)
|
|
|
NM_002617.4(PEX10):c.640del (p.Arg214fs)
|
|
|
NM_002617.4(PEX10):c.664del (p.Val222fs)
|
|
|
NM_002617.4(PEX10):c.664dup (p.Val222fs)
|
rs1357189926
|
|
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.708_709dup (p.Tyr237fs)
|
|
|
NM_002617.4(PEX10):c.727C>T (p.Gln243Ter)
|
rs2100422652
|
|
NM_002617.4(PEX10):c.735_738del (p.Lys247fs)
|
|
|
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
|
|
|
NM_002617.4(PEX10):c.747G>A (p.Trp249Ter)
|
rs2100422532
|
|
NM_002617.4(PEX10):c.755_756del (p.His252fs)
|
rs1325771720
|
|
NM_002617.4(PEX10):c.761del (p.Gly254fs)
|
rs1553231820
|
|
NM_002617.4(PEX10):c.795_796del (p.Arg265fs)
|
rs1553231787
|
|
NM_002617.4(PEX10):c.820_828del (p.Thr274_Cys276del)
|
|
|
NM_002617.4(PEX10):c.827G>C (p.Cys276Ser)
|
rs1414973726
|
|
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)
|
rs724160000
|
|
NM_002617.4(PEX10):c.832dup (p.Glu278fs)
|
|
|
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)
|
rs62641225
|
|
NM_002617.4(PEX10):c.858_870del (p.Pro287fs)
|
|
|
NM_002617.4(PEX10):c.868dup (p.His290fs)
|
|
|
NM_002617.4(PEX10):c.870C>G (p.His290Gln)
|
rs61752095
|
|
NM_002617.4(PEX10):c.881G>A (p.Trp294Ter)
|
|
|
NM_002617.4(PEX10):c.887del (p.Cys296fs)
|
|
|
NM_002617.4(PEX10):c.899G>A (p.Trp300Ter)
|
|
|
NM_002617.4(PEX10):c.8del (p.Pro3fs)
|
|
|
NM_002617.4(PEX10):c.903del (p.Trp300_Cys301insTer)
|
|
|
NM_002617.4(PEX10):c.907_908insCTTA (p.Ser303delinsThrTer)
|
|
|
NM_002617.4(PEX10):c.912+1G>C
|
rs1553231739
|
|
NM_002617.4:c.13_28delinsCCGCCAGCACCTGCGCCGCC
|
|
|
NM_002618.4(PEX13):c.107_120del (p.Gly36fs)
|
rs2104803129
|
|
NM_002618.4(PEX13):c.145dup (p.Thr49fs)
|
|
|
NM_002618.4(PEX13):c.148del (p.Arg50fs)
|
|
|
NM_002618.4(PEX13):c.159_160del (p.Pro54fs)
|
rs2104803205
|
|
NM_002618.4(PEX13):c.20dup (p.Pro8fs)
|
|
|
NM_002618.4(PEX13):c.27del (p.Lys10fs)
|
|
|
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter)
|
rs2104803395
|
|
NM_002618.4(PEX13):c.391C>T (p.Gln131Ter)
|
|
|
NM_002618.4(PEX13):c.431del (p.Ser144fs)
|
|
|
NM_002618.4(PEX13):c.499del (p.His167fs)
|
rs2104803491
|
|
NM_002618.4(PEX13):c.573_582del (p.Arg193fs)
|
|
|
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter)
|
rs1559035738
|
|
NM_002618.4(PEX13):c.596T>G (p.Leu199Ter)
|
|
|
NM_002618.4(PEX13):c.633G>A (p.Trp211Ter)
|
|
|
NM_002618.4(PEX13):c.676C>T (p.Arg226Ter)
|
|
|
NM_002618.4(PEX13):c.702G>A (p.Trp234Ter)
|
rs104893661
|
|
NM_002618.4(PEX13):c.744C>G (p.Tyr248Ter)
|
|
|
NM_002618.4(PEX13):c.759_760del (p.Leu254fs)
|
|
|
NM_002618.4(PEX13):c.801G>A (p.Trp267Ter)
|
|
|
NM_002618.4(PEX13):c.829dup (p.Ala277fs)
|
rs2104812709
|
|
NM_002618.4(PEX13):c.855del (p.Val286fs)
|
|
|
NM_002618.4(PEX13):c.871del (p.Ile291fs)
|
|
|
NM_002618.4(PEX13):c.937T>G (p.Trp313Gly)
|
rs61752113
|
|
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr)
|
rs61752115
|
|
NM_002635.4(SLC25A3):c.596T>G (p.Leu199Trp)
|
rs2097595072
|
|
NM_002635.4(SLC25A3):c.883_895delinsCAGATAC (p.Gly295_Ser299delinsGlnIlePro)
|
rs2097597579
|
|
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)
|
rs2055531147
|
|
NM_002693.3(POLG):c.3643+2T>C
|
rs1335880349
|
|
NM_002693.3(POLG):c.8G>C (p.Arg3Pro)
|
rs121918045
|
|
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)
|
rs886041592
|
|
NM_002700.3(POU4F3):c.184del (p.Ala62fs)
|
rs1760419273
|
|
NM_002700.3(POU4F3):c.37del (p.His13fs)
|
|
|
NM_002700.3(POU4F3):c.502del (p.Ala168fs)
|
rs766631025
|
|
NM_002700.3(POU4F3):c.54del (p.Glu18fs)
|
rs2126960889
|
|
NM_002700.3(POU4F3):c.564dup (p.Ala189fs)
|
|
|
NM_002700.3(POU4F3):c.662_675del (p.Gly221fs)
|
rs1064792854
|
|
NM_002700.3(POU4F3):c.668T>C (p.Leu223Pro)
|
rs121909057
|
|
NM_002700.3(POU4F3):c.66del (p.Ser23fs)
|
rs2126960899
|
|
NM_002700.3(POU4F3):c.694G>T (p.Glu232Ter)
|
rs2126961780
|
|
NM_002700.3(POU4F3):c.865C>T (p.Leu289Phe)
|
rs121909056
|
|
NM_002700.3(POU4F3):c.882_889del (p.Ile295fs)
|
rs398124631
|
|
NM_002700.3(POU4F3):c.886C>T (p.Gln296Ter)
|
rs2126961983
|
|
NM_002700.3(POU4F3):c.977G>A (p.Arg326Lys)
|
rs398123070
|
|
NM_002788.4(PSMA3):c.404+2T>C
|
rs1555352516
|
|
NM_002788.4(PSMA3):c.697_699del (p.Arg233del)
|
rs1555353410
|
|
NM_002796.3(PSMB4):c.44dup (p.Pro16fs)
|
rs1235715459
|
|
NM_002796.3(PSMB4):c.636_644del (p.Asp212_Val214del)
|
rs1553209362
|
|
NM_002796.3(PSMB4):c.666C>A (p.Tyr222Ter)
|
rs1553209373
|
|
NM_002801.4(PSMB10):c.41T>C (p.Phe14Ser)
|
rs2058265858
|
|
NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter)
|
rs104894281
|
|
NM_002855.5(NECTIN1):c.556del (p.Glu186fs)
|
rs876657374
|
|
NM_002855.5(NECTIN1):c.969dup (p.Thr324fs)
|
rs878853255
|
|
NM_002857.4(PEX19):c.161C>T (p.Ser54Leu)
|
rs1657873534
|
|
NM_002857.4(PEX19):c.294del (p.Glu98fs)
|
rs2101804576
|
|
NM_002857.4(PEX19):c.320del (p.Lys107fs)
|
rs1571138735
|
|
NM_002857.4(PEX19):c.526C>T (p.Gln176Ter)
|
|
|
NM_002857.4(PEX19):c.577A>T (p.Lys193Ter)
|
|
|
NM_002857.4(PEX19):c.86del (p.Phe29fs)
|
|
|
NM_002857.4(PEX19):c.9del (p.Ala4fs)
|
|
|
NM_002860.4(ALDH18A1):c.1499G>T (p.Gly500Val)
|
rs1194593234
|
|
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs)
|
rs1555264243
|
|
NM_002860.4(ALDH18A1):c.1802-4_1924-902delinsG
|
|
|
NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs)
|
rs587777858
|
|
NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr)
|
rs121434583
|
|
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe)
|
rs2139621988
|
|
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)
|
rs863225044
|
|
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu)
|
rs863225045
|
|
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs)
|
rs1555262375
|
|
NM_002894.3(RBBP8):c.2287+53T>G
|
rs587776883
|
|
NM_002894.3(RBBP8):c.604+1G>T
|
rs587780432
|
|
NM_002906.4(RDX):c.1108C>T (p.Arg370Ter)
|
rs1463925107
|
|
NM_002906.4(RDX):c.129G>A (p.Trp43Ter)
|
rs1412883921
|
|
NM_002906.4(RDX):c.1346del (p.Ala449fs)
|
rs2134302220
|
|
NM_002906.4(RDX):c.1405dup (p.Ala469fs)
|
rs1372141763
|
|
NM_002906.4(RDX):c.1732G>A (p.Asp578Asn)
|
rs121918379
|
|
NM_002906.4(RDX):c.463C>T (p.Gln155Ter)
|
rs121918380
|
|
NM_002906.4(RDX):c.551+2T>C
|
rs1591158999
|
|
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
|
|
|
NM_002913.5(RFC1):c.1162C>T (p.Arg388Ter)
|
|
|
NM_002913.5(RFC1):c.2535+2T>C
|
|
|
NM_002913.5(RFC1):c.2690+1G>A
|
|
|
NM_002913.5(RFC1):c.575del (p.Asn192fs)
|
|
|
NM_003040.4(SLC4A2):c.1658T>C (p.Val553Ala)
|
|
|
NM_003040.4(SLC4A2):c.556G>A (p.Ala186Thr)
|
|
|
NM_003047.5(SLC9A1):c.862del (p.Ile288fs)
|
rs2083214834
|
|
NM_003047.5(SLC9A1):c.913G>A (p.Gly305Arg)
|
rs786204831
|
|
NM_003052.5(SLC34A1):c.1006T>G (p.Cys336Gly)
|
rs876661338
|
|
NM_003052.5(SLC34A1):c.241dup (p.Glu81fs)
|
rs1174958403
|
|
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)
|
rs876661296
|
|
NM_003052.5(SLC34A1):c.458G>C (p.Gly153Ala)
|
rs769409705
|
|
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val)
|
rs769409705
|
|
NM_003052.5(SLC34A1):c.654G>A (p.Ala218=)
|
rs150592440
|
|
NM_003104.6(SORD):c.731C>T (p.Pro244Leu)
|
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003104.6(SORD):c.776C>T (p.Ala259Val)
|
|
|
NM_003104.6(SORD):c.851T>C (p.Leu284Pro)
|
|
|
NM_003104.6(SORD):c.895C>T (p.Arg299Ter)
|
rs1267443415
|
|
NM_003135.3(SRP19):c.189+5G>A
|
rs1322282571
|
|
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala)
|
rs1555354200
|
|
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)
|
rs1555354198
|
|
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)
|
rs1555354750
|
|
NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu)
|
rs1950780024
|
|
NM_003193.5(TBCE):c.1113T>A (p.Cys371Ter)
|
rs121908384
|
|
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)
|
rs767004810
|
|
NM_003193.5(TBCE):c.66_67del (p.Val23fs)
|
rs1572324681
|
|
NM_003292.3(TPR):c.*1130G>C
|
rs1657377652
|
|
NM_003292.3(TPR):c.2610+5G>A
|
|
|
NM_003292.3(TPR):c.6625C>T (p.Arg2209Ter)
|
|
|
NM_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer)
|
rs773840992
|
|
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)
|
rs1581736099
|
|
NM_003322.6(TULP1):c.1388del (p.Asn463fs)
|
rs1581736024
|
|
NM_003322.6(TULP1):c.1495+2dup
|
rs1581735836
|
|
NM_003322.6(TULP1):c.524dup (p.Pro176fs)
|
rs1327062642
|
|
NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter)
|
rs1581743256
|
|
NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs)
|
rs1581742633
|
|
NM_003322.6(TULP1):c.790C>T (p.Gln264Ter)
|
rs2150926986
|
|
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs)
|
rs1581740762
|
|
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)
|
rs201070350
|
|
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr)
|
rs104894732
|
|
NM_003383.5(VLDLR):c.1249_1255del (p.Tyr417fs)
|
rs398122380
|
|
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter)
|
rs80338905
|
|
NM_003383.5(VLDLR):c.149G>A (p.Trp50Ter)
|
|
|
NM_003383.5(VLDLR):c.1724G>A (p.Trp575Ter)
|
|
|
NM_003383.5(VLDLR):c.1961A>G (p.Glu654Gly)
|
|
|
NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe)
|
rs397514750
|
|
NM_003383.5(VLDLR):c.2339del (p.Ile780fs)
|
rs80338906
|
|
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter)
|
rs80338907
|
|
NM_003383.5(VLDLR):c.820+1G>A
|
|
|
NM_003383.5(VLDLR):c.901C>T (p.Arg301Ter)
|
|
|
NM_003384.3(VRK1):c.103_104del (p.Lys35fs)
|
rs2139748811
|
|
NM_003384.3(VRK1):c.105_108del (p.Lys35fs)
|
|
|
NM_003384.3(VRK1):c.1061dup (p.Thr355fs)
|
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
|
|
|
NM_003384.3(VRK1):c.1096_1097insTGAAGCA (p.Lys366fs)
|
rs2139845849
|
|
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter)
|
rs2139748841
|
|
NM_003384.3(VRK1):c.1133_1136del (p.Thr378fs)
|
rs1889019962
|
|
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
|
|
|
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
|
|
|
NM_003384.3(VRK1):c.1149del (p.Ile384fs)
|
|
|
NM_003384.3(VRK1):c.1159+1G>A
|
rs774877872
|
|
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter)
|
rs1887100431
|
|
NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs)
|
|
|
NM_003384.3(VRK1):c.160+1del
|
|
|
NM_003384.3(VRK1):c.179_180del (p.Glu60fs)
|
rs2139759363
|
|
NM_003384.3(VRK1):c.222del (p.Ser75fs)
|
rs2139779014
|
|
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)
|
|
|
NM_003384.3(VRK1):c.280_284del (p.Glu94fs)
|
|
|
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)
|
|
|
NM_003384.3(VRK1):c.362_365del (p.Lys121fs)
|
rs772146380
|
|
NM_003384.3(VRK1):c.387dup (p.Ile130fs)
|
rs2139795550
|
|
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
|
|
|
NM_003384.3(VRK1):c.500del (p.Tyr167fs)
|
|
|
NM_003384.3(VRK1):c.502_503del (p.Ile168fs)
|
|
|
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)
|
|
|
NM_003384.3(VRK1):c.542_543insGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGGCCTC (p.Ser181_Asn182insArgGlyGlySerArgLeuTer)
|
rs2139796429
|
|
NM_003384.3(VRK1):c.633_636del (p.Lys211fs)
|
|
|
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter)
|
rs2139801958
|
|
NM_003384.3(VRK1):c.656G>T (p.Arg219Ile)
|
rs1595676517
|
|
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter)
|
rs762979613
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter)
|
rs1200170208
|
|
NM_003384.3(VRK1):c.761G>T (p.Trp254Leu)
|
rs1172497555
|
|
NM_003384.3(VRK1):c.779del (p.Pro260fs)
|
|
|
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter)
|
rs2139804073
|
|
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)
|
rs1428656431
|
|
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)
|
|
|
NM_003384.3(VRK1):c.854del (p.Ser284_Leu285insTer)
|
|
|
NM_003384.3(VRK1):c.881del (p.Asn294fs)
|
|
|
NM_003384.3(VRK1):c.883_886del (p.Lys295fs)
|
rs779282547
|
|
NM_003384.3(VRK1):c.897del (p.Ile299fs)
|
rs2139814687
|
|
NM_003384.3(VRK1):c.913dup (p.Thr305fs)
|
rs2139814734
|
|
NM_003384.3(VRK1):c.950_951dup (p.Glu318fs)
|
|
|
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)
|
rs1566713184
|
|
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)
|
rs727503909
|
|
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs)
|
rs886042504
|
|
NM_003494.4(DYSF):c.1481-1G>A
|
rs398123770
|
|
NM_003504.5(CDC45):c.(342+1_343-1)_(486+1_487-1)del
|
|
|
NM_003504.5(CDC45):c.1445_1448del (p.Lys482fs)
|
rs1933800287
|
|
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.326_329dup (p.Asn111fs)
|
rs752023208
|
|
NM_003504.5(CDC45):c.333C>T (p.Asn111=)
|
rs748749078
|
|
NM_003504.5(CDC45):c.893C>T (p.Ala298Val)
|
rs146559223
|
|
NM_003611.3(OFD1):c.710del (p.Lys237fs)
|
rs312262845
|
|
NM_003619.4(PRSS12):c.1355_1358del (p.Asp452fs)
|
rs876657372
|
|
NM_003630.3(PEX3):c.292_302del (p.Ser98fs)
|
rs748689554
|
|
NM_003630.3(PEX3):c.543dup (p.Val182fs)
|
|
|
NM_003630.3(PEX3):c.942-8T>G
|
rs267608193
|
|
NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter)
|
rs549556142
|
|
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter)
|
rs876661408
|
|
NM_003672.4(CDC14A):c.839-3C>G
|
rs1553191001
|
|
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly)
|
rs148737918
|
|
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln)
|
rs369245990
|
|
NM_003673.4(TCAP):c.110_110+1del
|
rs786205076
|
|
NM_003701.4(TNFSF11):c.532+4_532+8del
|
rs2137905441
|
|
NM_003701.4(TNFSF11):c.596T>A (p.Met199Lys)
|
rs121909072
|
|
NM_003701.4(TNFSF11):c.828_829del (p.Val277fs)
|
rs863223288
|
|
NM_003701.4(TNFSF11):c.929del (p.Ala310fs)
|
rs2137916719
|
|
NM_003754.3(EIF3F):c.861dup (p.Gln288fs)
|
rs2133674310
|
|
NM_003759.4(SLC4A4):c.85C>T (p.Gln29Ter)
|
rs121908858
|
|
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro)
|
rs782768127
|
|
NM_003801.4(GPAA1):c.1465C>T (p.Gln489Ter)
|
|
|
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn)
|
rs1554763777
|
|
NM_003801.4(GPAA1):c.1826C>T (p.Pro609Leu)
|
rs868951923
|
|
NM_003801.4(GPAA1):c.319_320del (p.Ser107fs)
|
rs1835941699
|
|
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro)
|
rs1554764058
|
|
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro)
|
rs1010907740
|
|
NM_003801.4(GPAA1):c.920del (p.Gly307fs)
|
rs1554764067
|
|
NM_003801.4(GPAA1):c.981_993del (p.Gln327fs)
|
rs1554764080
|
|
NM_003839.4(TNFRSF11A):c.1530dup (p.Ser511fs)
|
rs2145357936
|
|
NM_003839.4(TNFRSF11A):c.157G>C (p.Gly53Arg)
|
rs121908659
|
|
NM_003839.4(TNFRSF11A):c.239G>A (p.Trp80Ter)
|
|
|
NM_003839.4(TNFRSF11A):c.385C>T (p.Arg129Cys)
|
rs121908657
|
|
NM_003839.4(TNFRSF11A):c.508A>G (p.Arg170Gly)
|
rs121908655
|
|
NM_003839.4(TNFRSF11A):c.523T>C (p.Cys175Arg)
|
rs121908656
|
|
NM_003839.4(TNFRSF11A):c.54C>A (p.Cys18Ter)
|
|
|
NM_003839.4(TNFRSF11A):c.730G>T (p.Ala244Ser)
|
rs121908658
|
|
NM_003860.4(BANF1):c.34G>A (p.Ala12Thr)
|
rs387906871
|
|
NM_003896.4(ST3GAL5):c.1000C>T (p.Arg334Ter)
|
rs200541102
|
|
NM_003896.4(ST3GAL5):c.1000del (p.Arg334fs)
|
|
|
NM_003896.4(ST3GAL5):c.1001del (p.Arg334fs)
|
|
|
NM_003896.4(ST3GAL5):c.1008+1G>A
|
|
|
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser)
|
rs367638648
|
|
NM_003896.4(ST3GAL5):c.1030_1031del (p.Ile344fs)
|
rs2104584644
|
|
NM_003896.4(ST3GAL5):c.10A>T (p.Lys4Ter)
|
|
|
NM_003896.4(ST3GAL5):c.124del (p.Cys42fs)
|
rs777319882
|
|
NM_003896.4(ST3GAL5):c.154C>T (p.Arg52Ter)
|
|
|
NM_003896.4(ST3GAL5):c.271G>T (p.Glu91Ter)
|
|
|
NM_003896.4(ST3GAL5):c.289del (p.Met97fs)
|
|
|
NM_003896.4(ST3GAL5):c.289dup (p.Met97fs)
|
|
|
NM_003896.4(ST3GAL5):c.297T>G (p.Tyr99Ter)
|
rs1423247945
|
|
NM_003896.4(ST3GAL5):c.318+1del
|
rs1684687070
|
|
NM_003896.4(ST3GAL5):c.32_39del (p.Arg11fs)
|
rs2104282063
|
|
NM_003896.4(ST3GAL5):c.332dup (p.Tyr111Ter)
|
rs1683047204
|
|
NM_003896.4(ST3GAL5):c.337C>T (p.Gln113Ter)
|
|
|
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs)
|
rs754643632
|
|
NM_003896.4(ST3GAL5):c.359del (p.Cys120fs)
|
|
|
NM_003896.4(ST3GAL5):c.374_381del (p.Ala125fs)
|
|
|
NM_003896.4(ST3GAL5):c.40dup (p.Leu14fs)
|
|
|
NM_003896.4(ST3GAL5):c.422T>G (p.Leu141Ter)
|
|
|
NM_003896.4(ST3GAL5):c.47_62del (p.Pro16fs)
|
|
|
NM_003896.4(ST3GAL5):c.538G>T (p.Glu180Ter)
|
|
|
NM_003896.4(ST3GAL5):c.567del (p.Lys190fs)
|
rs2103959087
|
|
NM_003896.4(ST3GAL5):c.584G>C (p.Cys195Ser)
|
rs886037930
|
|
NM_003896.4(ST3GAL5):c.64del (p.Ala22fs)
|
|
|
NM_003896.4(ST3GAL5):c.694G>T (p.Glu232Ter)
|
|
|
NM_003896.4(ST3GAL5):c.794del (p.Leu265fs)
|
rs1444819796
|
|
NM_003896.4(ST3GAL5):c.79C>T (p.Arg27Ter)
|
rs1688068423
|
|
NM_003896.4(ST3GAL5):c.895dup (p.Ile299fs)
|
|
|
NM_003937.3(KYNU):c.1035T>A (p.Ser345Arg)
|
rs771131526
|
|
NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs)
|
rs770642379
|
|
NM_003937.3(KYNU):c.361_363del (p.Lys121del)
|
rs767060858
|
|
NM_003937.3(KYNU):c.374-433_435+369del
|
|
|
NM_004004.5(GJB2):c.-260C>T
|
rs886037626
|
|
NM_004004.5(GJB2):c.[134G>A;408C>A]
|
|
|
NM_004004.6(GJB2):c.122AGG[1] (p.Glu42del)
|
rs1566528901
|
|
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser)
|
rs104894413
|
|
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys)
|
rs104894407
|
|
NM_004004.6(GJB2):c.137_141del (p.Asp46fs)
|
rs1959062017
|
|
NM_004004.6(GJB2):c.157T>A (p.Cys53Ser)
|
rs1555341986
|
|
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)
|
rs750188782
|
|
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter)
|
rs763572195
|
|
NM_004004.6(GJB2):c.206_212dup (p.Ser72fs)
|
|
|
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.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.250G>A (p.Val84Met)
|
rs104894409
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.250G>T (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)
|
rs1291519904
|
|
NM_004004.6(GJB2):c.280_284dup (p.Ala96fs)
|
rs886037625
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.314_329del (p.Lys105fs)
|
rs797045596
|
|
NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs)
|
rs1555341931
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
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.379C>T (p.Arg127Cys)
|
rs727503066
|
|
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)
|
rs397516875
|
|
NM_004004.6(GJB2):c.399G>A (p.Trp133Ter)
|
|
|
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)
|
rs878853241
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)
|
rs111033420
|
|
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter)
|
rs772264564
|
|
NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter)
|
rs375759781
|
|
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs)
|
rs886037624
|
|
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn)
|
rs28931595
|
|
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.576del (p.Val193fs)
|
rs747847191
|
|
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.605G>T (p.Cys202Phe)
|
rs104894406
|
|
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)
|
rs587783646
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004004.6(GJB2):c.72G>A (p.Trp24Ter)
|
rs769486081
|
|
NM_004004.6(GJB2):c.79_82delinsAGA (p.Val27fs)
|
rs2137308740
|
|
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)
|
rs371024165
|
|
NM_004004.6(GJB2):c.95G>A (p.Arg32His)
|
rs111033190
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)
|
rs111033401
|
|
NM_004056.6(CA8):c.298T>C (p.Ser100Pro)
|
rs267606695
|
|
NM_004086.3(COCH):c.1115T>C (p.Ile372Thr)
|
rs1594385065
|
|
NM_004086.3(COCH):c.1159C>T (p.Leu387Phe)
|
rs878853226
|
|
NM_004086.3(COCH):c.151C>T (p.Pro51Ser)
|
rs28938175
|
|
NM_004086.3(COCH):c.1625G>A (p.Cys542Tyr)
|
rs121908932
|
|
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)
|
rs121908932
|
|
NM_004086.3(COCH):c.197T>G (p.Val66Gly)
|
rs121908927
|
|
NM_004086.3(COCH):c.263G>A (p.Gly88Glu)
|
rs121908928
|
|
NM_004086.3(COCH):c.326T>A (p.Ile109Asn)
|
rs121908930
|
|
NM_004086.3(COCH):c.341T>C (p.Leu114Pro)
|
rs2138844314
|
|
NM_004086.3(COCH):c.349T>C (p.Trp117Arg)
|
rs121908929
|
|
NM_004086.3(COCH):c.355G>A (p.Ala119Thr)
|
rs121908931
|
|
NM_004086.3(COCH):c.984_985dup (p.Phe329fs)
|
rs1895769400
|
|
NM_004100.5(EYA4):c.1026_1027dup (p.Thr343fs)
|
rs2128707546
|
|
NM_004100.5(EYA4):c.1048_1049dup (p.Arg352fs)
|
rs2128707619
|
|
NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter)
|
rs2128711268
|
|
NM_004100.5(EYA4):c.1282-12T>A
|
rs2128781753
|
|
NM_004100.5(EYA4):c.1720_1722delTACinsAAA
|
rs1800334076
|
|
NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter)
|
rs1554275988
|
|
NM_004100.5(EYA4):c.441del (p.Tyr148fs)
|
rs878853223
|
|
NM_004100.5(EYA4):c.804+2T>A
|
rs2128665071
|
|
NM_004100.5(EYA4):c.804+2del
|
rs2128665075
|
|
NM_004100.5(EYA4):c.964C>T (p.Gln322Ter)
|
rs2128674939
|
|
NM_004100.5(EYA4):c.992dup (p.Ser331fs)
|
|
|
NM_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del)
|
rs869312659
|
|
NM_004153.4(ORC1):c.1482-2A>G
|
rs1378348220
|
|
NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro)
|
rs2147923128
|
|
NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs)
|
rs1557573504
|
|
NM_004153.4(ORC1):c.237del (p.Pro80fs)
|
rs1647490038
|
|
NM_004153.4(ORC1):c.380A>G (p.Glu127Gly)
|
rs387906826
|
|
NM_004153.4(ORC1):c.403-2A>C
|
rs2147941262
|
|
NM_004230.4(S1PR2):c.323G>C (p.Arg108Pro)
|
rs869312749
|
|
NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys)
|
rs869312750
|
|
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs)
|
rs1060501383
|
|
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter)
|
rs137853230
|
|
NM_004260.4(RECQL4):c.806G>A (p.Trp269Ter)
|
rs137853231
|
|
NM_004336.5(BUB1):c.2197dup (p.Ala733fs)
|
|
|
NM_004336.5(BUB1):c.2625+1G>A
|
|
|
NM_004336.5(BUB1):c.2T>G (p.Met1Arg)
|
|
|
NM_004373.4(COX6A1):c.247-7_247-3del
|
rs587777783
|
|
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter)
|
rs1334656238
|
|
NM_004393.6(DAG1):c.285+1G>A
|
rs2050744878
|
|
NM_004393.6(DAG1):c.330G>A (p.Trp110Ter)
|
rs2051320206
|
|
NM_004393.6(DAG1):c.41C>A (p.Ser14Ter)
|
rs2131107
|
|
NM_004393.6(DAG1):c.440del (p.Gln147fs)
|
rs1553652503
|
|
NM_004393.6(DAG1):c.575C>T (p.Thr192Met)
|
rs193922955
|
|
NM_004403.3(GSDME):c.1183+4A>G
|
rs1562687295
|
|
NM_004403.3(GSDME):c.781C>T (p.Arg261Ter)
|
rs200205042
|
|
NM_004403.3(GSDME):c.991-6C>G
|
rs1562687726
|
|
NM_004407.4(DMP1):c.1485_1491del (p.Tyr496fs)
|
rs587776698
|
|
NM_004407.4(DMP1):c.1A>G (p.Met1Val)
|
rs104893834
|
|
NM_004407.4(DMP1):c.362del (p.Pro121fs)
|
rs587776696
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)
|
rs397514040
|
|
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)
|
rs397516955
|
|
NM_004426.3(PHC1):c.100C>T (p.Arg34Ter)
|
rs2137054010
|
|
NM_004426.3(PHC1):c.2974C>T (p.Leu992Phe)
|
rs587777036
|
|
NM_004447.6(EPS8):c.1424T>G (p.Leu475Ter)
|
rs2135785787
|
|
NM_004447.6(EPS8):c.88C>T (p.Gln30Ter)
|
rs587777691
|
|
NM_004525.3(LRP2):c.10195C>T (p.Arg3399Ter)
|
rs80338752
|
|
NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter)
|
rs80338744
|
|
NM_004525.3(LRP2):c.12437del (p.Gly4146fs)
|
rs786205122
|
|
NM_004525.3(LRP2):c.1341+2T>G
|
rs80338745
|
|
NM_004525.3(LRP2):c.2474T>G (p.Leu825Ter)
|
rs1559043276
|
|
NM_004525.3(LRP2):c.2640-1G>A
|
rs587776717
|
|
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)
|
rs80338747
|
|
NM_004525.3(LRP2):c.8244T>A (p.Cys2748Ter)
|
rs2105326044
|
|
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter)
|
rs1358532875
|
|
NM_004525.3(LRP2):c.8452+1G>A
|
rs80338748
|
|
NM_004525.3(LRP2):c.8519_8522del (p.Tyr2840fs)
|
rs80338749
|
|
NM_004525.3(LRP2):c.9484_9485del (p.Val3162fs)
|
rs80338751
|
|
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)
|
rs2051507892
|
|
NM_004539.4(NARS1):c.203dup (p.Met69fs)
|
rs1908000933
|
|
NM_004539.4(NARS1):c.32G>C (p.Arg11Pro)
|
rs771435243
|
|
NM_004560.4(ROR2):c.1184-1G>T
|
rs2118645585
|
|
NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter)
|
rs1308509155
|
|
NM_004560.4(ROR2):c.1353_1360del (p.Met452fs)
|
rs1365019676
|
|
NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter)
|
rs121909083
|
|
NM_004560.4(ROR2):c.1937_1943del (p.Tyr646fs)
|
rs863223291
|
|
NM_004560.4(ROR2):c.2160G>A (p.Trp720Ter)
|
rs121909085
|
|
NM_004560.4(ROR2):c.2T>G (p.Met1Arg)
|
rs2118126851
|
|
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter)
|
rs121909087
|
|
NM_004560.4(ROR2):c.550C>T (p.Arg184Cys)
|
rs121909084
|
|
NM_004560.4(ROR2):c.613C>T (p.Arg205Ter)
|
rs121909086
|
|
NM_004560.4(ROR2):c.622+762_1184-1036del
|
|
|
NM_004560.4(ROR2):c.675del (p.Gln225fs)
|
rs2118702517
|
|
NM_004560.4(ROR2):c.79_80del (p.Ser29fs)
|
rs2118125646
|
|
NM_004560.4(ROR2):c.990del (p.Thr331fs)
|
rs1837228121
|
|
NM_004565.3(PEX14):c.109C>T (p.Gln37Ter)
|
|
|
NM_004565.3(PEX14):c.553C>T (p.Gln185Ter)
|
rs61752116
|
|
NM_004568.6(SERPINB6):c.733G>T (p.Glu245Ter)
|
rs267607037
|
|
NM_004604.5(STX4):c.232+6T>C
|
|
|
NM_004614.5(TK2):c.547C>T (p.Arg183Trp)
|
rs137886900
|
|
NM_004618.5(TOP3A):c.2271dup (p.Arg758fs)
|
rs752838075
|
|
NM_004618.5(TOP3A):c.2428del (p.Ser810fs)
|
rs1555568139
|
|
NM_004618.5(TOP3A):c.2718del (p.Thr907fs)
|
rs1288928564
|
|
NM_004700.4(KCNQ4):c.1044_1051del (p.Ala349Profs)
|
rs797044972
|
|
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)
|
rs1271250198
|
|
NM_004700.4(KCNQ4):c.211del (p.Gln71fs)
|
rs80358272
|
|
NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs)
|
rs80358271
|
|
NM_004700.4(KCNQ4):c.228_229dup (p.His77fs)
|
rs1553165199
|
|
NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del)
|
rs1557977732
|
|
NM_004700.4(KCNQ4):c.689T>A (p.Val230Glu)
|
rs797044965
|
|
NM_004700.4(KCNQ4):c.778G>A (p.Glu260Lys)
|
rs80358274
|
|
NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val)
|
rs80358275
|
|
NM_004700.4(KCNQ4):c.796G>T (p.Asp266Tyr)
|
rs1558014576
|
|
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del)
|
rs797044966
|
|
NM_004700.4(KCNQ4):c.808T>C (p.Tyr270His)
|
rs797044967
|
|
NM_004700.4(KCNQ4):c.821T>A (p.Leu274His)
|
rs80358276
|
|
NM_004700.4(KCNQ4):c.823T>C (p.Trp275Arg)
|
rs797044968
|
|
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser)
|
rs80358278
|
|
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)
|
rs28937588
|
|
NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys)
|
rs28937588
|
|
NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg)
|
rs137853969
|
|
NM_004700.4(KCNQ4):c.871C>T (p.Pro291Ser)
|
rs797044969
|
|
NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu)
|
rs797044970
|
|
NM_004700.4(KCNQ4):c.886G>A (p.Gly296Ser)
|
rs80358279
|
|
NM_004700.4(KCNQ4):c.891G>T (p.Arg297Ser)
|
rs797044971
|
|
NM_004715.5(CTDP1):c.863+389C>T
|
rs113994102
|
|
NM_004758.4(TSPOAP1):c.1567C>T (p.Gln523Ter)
|
|
|
NM_004813.4(PEX16):c.115C>T (p.Arg39Ter)
|
rs2134699162
|
|
NM_004813.4(PEX16):c.238C>T (p.Gln80Ter)
|
|
|
NM_004813.4(PEX16):c.311G>A (p.Trp104Ter)
|
|
|
NM_004813.4(PEX16):c.312G>A (p.Trp104Ter)
|
|
|
NM_004813.4(PEX16):c.446dup (p.Ala150fs)
|
rs2134695309
|
|
NM_004813.4(PEX16):c.512C>A (p.Ser171Ter)
|
|
|
NM_004813.4(PEX16):c.535C>T (p.Gln179Ter)
|
|
|
NM_004813.4(PEX16):c.58del (p.Ala20fs)
|
|
|
NM_004813.4(PEX16):c.595C>T (p.Gln199Ter)
|
|
|
NM_004813.4(PEX16):c.65_71del (p.Thr22fs)
|
rs2134699707
|
|
NM_004813.4(PEX16):c.714G>A (p.Trp238Ter)
|
|
|
NM_004813.4(PEX16):c.718C>T (p.Gln240Ter)
|
rs2134692559
|
|
NM_004813.4(PEX16):c.729G>A (p.Trp243Ter)
|
|
|
NM_004813.4(PEX16):c.737G>A (p.Trp246Ter)
|
rs2086807269
|
|
NM_004813.4(PEX16):c.817G>T (p.Glu273Ter)
|
|
|
NM_004813.4(PEX16):c.860G>A (p.Arg287His)
|
|
|
NM_004813.4(PEX16):c.952+118_*82del
|
|
|
NM_004813.4(PEX16):c.952+2T>C
|
rs267608185
|
|
NM_004813.4(PEX16):c.984del (p.Ile330fs)
|
rs1590793006
|
|
NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys)
|
rs397514472
|
|
NM_004830.4(MED23):c.1919A>G (p.Gln640Arg)
|
rs745997916
|
|
NM_004830.4(MED23):c.3638A>G (p.His1213Arg)
|
rs527236035
|
|
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter)
|
rs527236036
|
|
NM_004830.4(MED23):c.506A>G (p.Tyr169Cys)
|
rs2114757071
|
|
NM_004830.4(MED23):c.539C>A (p.Ala180Asp)
|
rs2114756866
|
|
NM_004830.4(MED23):c.670C>G (p.Arg224Gly)
|
rs1293450628
|
|
NM_004836.7(EIF2AK3):c.1035dup (p.Lys346Ter)
|
rs869025178
|
|
NM_004836.7(EIF2AK3):c.1192C>T (p.Gln398Ter)
|
rs864621972
|
|
NM_004836.7(EIF2AK3):c.12del (p.Ile5fs)
|
rs2103993244
|
|
NM_004836.7(EIF2AK3):c.1563G>A (p.Trp521Ter)
|
|
|
NM_004836.7(EIF2AK3):c.1564_1565del (p.Trp522fs)
|
rs797045558
|
|
NM_004836.7(EIF2AK3):c.1570_1573del (p.Lys523_Glu524insTer)
|
rs1558652941
|
|
NM_004836.7(EIF2AK3):c.1763G>A (p.Arg588Gln)
|
rs121908569
|
|
NM_004836.7(EIF2AK3):c.1897C>T (p.Arg633Trp)
|
|
|
NM_004836.7(EIF2AK3):c.1912C>T (p.Arg638Ter)
|
|
|
NM_004836.7(EIF2AK3):c.1936_1958del (p.Leu646fs)
|
rs2104414335
|
|
NM_004836.7(EIF2AK3):c.2729_2732del (p.Glu910fs)
|
|
|
NM_004836.7(EIF2AK3):c.2758C>T (p.Gln920Ter)
|
rs1553407942
|
|
NM_004836.7(EIF2AK3):c.2985+1G>A
|
rs869025179
|
|
NM_004836.7(EIF2AK3):c.994G>T (p.Glu332Ter)
|
rs121908570
|
|
NM_004839.4(HOMER2):c.554G>C (p.Arg185Pro)
|
rs864309524
|
|
NM_004839.4(HOMER2):c.799_803del (p.Pro267fs)
|
rs2051382999
|
|
NM_004839.4(HOMER2):c.807dup (p.Met270fs)
|
rs2051382723
|
|
NM_004849.4(ATG5):c.366A>T (p.Glu122Asp)
|
rs1131692265
|
|
NM_004928.3(CFAP410):c.643-2A>G
|
rs1602071524
|
|
NM_004937.3(CTNS):c.1000del (p.Thr334fs)
|
rs2142982656
|
|
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)
|
rs748094459
|
|
NM_004937.3(CTNS):c.140+1G>A
|
|
|
NM_004937.3(CTNS):c.140+1G>T
|
rs1567701415
|
|
NM_004937.3(CTNS):c.140+1del
|
rs2150904759
|
|
NM_004937.3(CTNS):c.140+2T>C
|
rs2075872773
|
|
NM_004937.3(CTNS):c.141-24T>C
|
|
|
NM_004937.3(CTNS):c.152_153insCT (p.Ala52fs)
|
rs2150906974
|
|
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)
|
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
NM_004937.3(CTNS):c.1A>T (p.Met1Leu)
|
rs2075650925
|
|
NM_004937.3(CTNS):c.204del (p.Ile69fs)
|
|
|
NM_004937.3(CTNS):c.206_210del (p.Ile69fs)
|
rs879758262
|
|
NM_004937.3(CTNS):c.225+1G>A
|
rs1555561049
|
|
NM_004937.3(CTNS):c.225+3A>T
|
|
|
NM_004937.3(CTNS):c.225+5_225+6delinsCC
|
rs786204541
|
|
NM_004937.3(CTNS):c.257_258del (p.Ser86fs)
|
rs879255614
|
|
NM_004937.3(CTNS):c.274C>T (p.Gln92Ter)
|
rs2150919035
|
|
NM_004937.3(CTNS):c.27del (p.Phe9fs)
|
rs2150888913
|
|
NM_004937.3(CTNS):c.283G>T (p.Gly95Ter)
|
rs121908124
|
|
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.314_317del (p.His105fs)
|
|
|
NM_004937.3(CTNS):c.323del (p.Gln108fs)
|
rs879255615
|
|
NM_004937.3(CTNS):c.329+2T>C
|
rs955833453
|
|
NM_004937.3(CTNS):c.329G>T (p.Gly110Val)
|
rs121908129
|
|
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)
|
rs550254092
|
|
NM_004937.3(CTNS):c.405dup (p.Val136fs)
|
|
|
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)
|
rs1555558099
|
|
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)
|
rs1436441738
|
|
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)
|
rs1597647930
|
|
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter)
|
rs2076101632
|
|
NM_004937.3(CTNS):c.449G>A (p.Trp150Ter)
|
rs2076101974
|
|
NM_004937.3(CTNS):c.479del (p.Phe160fs)
|
rs2076150607
|
|
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)
|
rs121908126
|
|
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys)
|
rs1555563446
|
|
NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer)
|
rs745365232
|
|
NM_004937.3(CTNS):c.539_551del (p.Leu180fs)
|
rs2150922730
|
|
NM_004937.3(CTNS):c.545G>A (p.Trp182Ter)
|
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)
|
rs1597654770
|
|
NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer)
|
rs1567695026
|
|
NM_004937.3(CTNS):c.61+5G>A
|
rs1407498555
|
|
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.61_61+2del
|
rs2075652654
|
|
NM_004937.3(CTNS):c.62-1G>A
|
rs1597619719
|
|
NM_004937.3(CTNS):c.62-1G>T
|
rs1597619719
|
|
NM_004937.3(CTNS):c.62-2864_225+2278del
|
|
|
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
|
|
|
NM_004937.3(CTNS):c.681+8del
|
rs2150923282
|
|
NM_004937.3(CTNS):c.681G>A (p.Glu227=)
|
rs778414542
|
|
NM_004937.3(CTNS):c.682-1G>T
|
rs1057516771
|
|
NM_004937.3(CTNS):c.682-2A>C
|
|
|
NM_004937.3(CTNS):c.686_699del (p.Gly229fs)
|
|
|
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)
|
rs1555563982
|
|
NM_004937.3(CTNS):c.696dup (p.Val233fs)
|
rs113994209
|
|
NM_004937.3(CTNS):c.699_700del (p.Ser234fs)
|
rs766981777
|
|
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)
|
rs763089013
|
|
NM_004937.3(CTNS):c.735G>A (p.Trp245Ter)
|
rs2150925108
|
|
NM_004937.3(CTNS):c.751_752del (p.Thr251fs)
|
|
|
NM_004937.3(CTNS):c.768dup (p.Val257fs)
|
rs1567713938
|
|
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)
|
rs759623796
|
|
NM_004937.3(CTNS):c.790C>T (p.Gln264Ter)
|
rs2076198741
|
|
NM_004937.3(CTNS):c.790_791del (p.Gln264fs)
|
rs2076198775
|
|
NM_004937.3(CTNS):c.809_811del (p.Ser270del)
|
rs786204632
|
|
NM_004937.3(CTNS):c.829dup (p.Thr277fs)
|
rs752919200
|
|
NM_004937.3(CTNS):c.82_83del (p.Val28fs)
|
rs2150904623
|
|
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)
|
rs2150925451
|
|
NM_004937.3(CTNS):c.841dup (p.Tyr281fs)
|
rs1411094034
|
|
NM_004937.3(CTNS):c.853-2A>G
|
rs1475322504
|
|
NM_004937.3(CTNS):c.85_86del (p.Pro29fs)
|
|
|
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)
|
rs776842972
|
|
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)
|
rs917630768
|
|
NM_004937.3(CTNS):c.922G>C (p.Gly308Arg)
|
rs746307931
|
|
NM_004937.3(CTNS):c.923G>T (p.Gly308Val)
|
|
|
NM_004937.3(CTNS):c.926dup (p.Ser310fs)
|
rs786204420
|
|
NM_004937.3(CTNS):c.936_945del (p.Ser312fs)
|
|
|
NM_004937.3(CTNS):c.943C>T (p.Gln315Ter)
|
|
|
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)
|
rs121908128
|
|
NM_004937.3(CTNS):c.971-12G>A
|
rs375952052
|
|
NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter)
|
rs876657653
|
|
NM_004999.4(MYO6):c.36dup (p.Thr13fs)
|
rs1562201376
|
|
NM_004999.4(MYO6):c.560del (p.Pro187fs)
|
rs2150249865
|
|
NM_005012.4(ROR1):c.2207G>C (p.Arg736Thr)
|
rs1553163562
|
|
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter)
|
rs1055176338
|
|
NM_005199.5(CHRNG):c.117dup (p.Asn40fs)
|
rs797044677
|
|
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter)
|
rs267606725
|
|
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)
|
rs764266722
|
|
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter)
|
rs1574643342
|
|
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup)
|
rs863223313
|
|
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly)
|
rs267606726
|
|
NM_005199.5(CHRNG):c.420G>A (p.Trp140Ter)
|
|
|
NM_005199.5(CHRNG):c.55+5G>A
|
|
|
NM_005199.5(CHRNG):c.56-2A>G
|
|
|
NM_005199.5(CHRNG):c.814del (p.Gln272fs)
|
rs2106221927
|
|
NM_005219.5(DIAPH1):c.1016del (p.Met339fs)
|
rs2154596448
|
|
NM_005219.5(DIAPH1):c.1051C>T (p.Arg351Ter)
|
|
|
NM_005219.5(DIAPH1):c.108dup (p.Lys37Ter)
|
rs2154597562
|
|
NM_005219.5(DIAPH1):c.1483C>T (p.Arg495Ter)
|
|
|
NM_005219.5(DIAPH1):c.2100dup (p.Pro701fs)
|
rs2154596284
|
|
NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs)
|
rs771360300
|
|
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)
|
rs730882242
|
|
NM_005219.5(DIAPH1):c.2350_2351dup (p.Trp784fs)
|
|
|
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs)
|
rs2099888710
|
|
NM_005219.5(DIAPH1):c.3166C>T (p.Gln1056Ter)
|
rs1331356644
|
|
NM_005219.5(DIAPH1):c.3211_3212insAT (p.Arg1071fs)
|
|
|
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)
|
rs1235751512
|
|
NM_005219.5(DIAPH1):c.3624_3625del (p.Ala1210fs)
|
rs1064797096
|
|
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)
|
rs876657776
|
|
NM_005219.5(DIAPH1):c.3661+1G>T
|
rs1476157529
|
|
NM_005219.5(DIAPH1):c.626dup (p.Tyr209Ter)
|
|
|
NM_005219.5(DIAPH1):c.684+1G>A
|
|
|
NM_005219.5(DIAPH1):c.839del (p.Leu280fs)
|
|
|
NM_005219.5(DIAPH1):c.89del (p.Gly30fs)
|
|
|
NM_005219.5(DIAPH1):c.910dup (p.Ser304fs)
|
rs2154596461
|
|
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs)
|
rs779091652
|
|
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
|
|
|
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
|
|
|
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)
|
|
|
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
|
|
|
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer)
|
rs1555468482
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)
|
rs772899497
|
|
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)
|
rs774510191
|
|
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs)
|
rs1419167361
|
|
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)
|
rs1355878901
|
|
NM_005236.3(ERCC4):c.663dup (p.Met222fs)
|
|
|
NM_005236.3(ERCC4):c.68del (p.Val23fs)
|
|
|
NM_005236.3(ERCC4):c.793-2A>G
|
rs2032155264
|
|
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)
|
|
|
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)
|
|
|
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)
|
|
|
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)
|
|
|
NM_005236.3(ERCC4):c.915del (p.Asn308fs)
|
rs772432152
|
|
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)
|
|
|
NM_005422.2(TECTA):c.[5458C>T;5471G>A]
|
|
|
NM_005422.4(TECTA):c.1115dup (p.Ser373fs)
|
|
|
NM_005422.4(TECTA):c.1247_1248del (p.Gly416fs)
|
rs773573968
|
|
NM_005422.4(TECTA):c.1705C>T (p.Gln569Ter)
|
rs1946605498
|
|
NM_005422.4(TECTA):c.1756C>T (p.Arg586Ter)
|
|
|
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.4690-1G>A
|
|
|
NM_005422.4(TECTA):c.4856G>C (p.Cys1619Ser)
|
rs121909060
|
|
NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter)
|
rs764153521
|
|
NM_005422.4(TECTA):c.5331G>A (p.Leu1777=)
|
rs1591462832
|
|
NM_005422.4(TECTA):c.5383+5_5383+8del
|
rs2135128814
|
|
NM_005422.4(TECTA):c.5509T>C (p.Cys1837Arg)
|
rs121909061
|
|
NM_005422.4(TECTA):c.5509T>G (p.Cys1837Gly)
|
rs121909061
|
|
NM_005422.4(TECTA):c.5609A>G (p.Tyr1870Cys)
|
rs121909058
|
|
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys)
|
rs121909063
|
|
NM_005422.4(TECTA):c.5866C>T (p.Arg1956Ter)
|
rs1565536400
|
|
NM_005422.4(TECTA):c.6017A>G (p.Asp2006Gly)
|
rs878853224
|
|
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His)
|
rs121909062
|
|
NM_005422.4(TECTA):c.6103G>T (p.Glu2035Ter)
|
rs267602733
|
|
NM_005422.4(TECTA):c.6162+5G>A
|
rs1565541888
|
|
NM_005422.4(TECTA):c.840_841insT (p.Val281fs)
|
rs1565519673
|
|
NM_005522.5(HOXA1):c.175dup (p.Val59fs)
|
rs769152039
|
|
NM_005522.5(HOXA1):c.185del (p.Gly62fs)
|
rs1562700083
|
|
NM_005522.5(HOXA1):c.76C>T (p.Arg26Ter)
|
rs104894018
|
|
NM_005522.5(HOXA1):c.84C>G (p.Tyr28Ter)
|
rs104894017
|
|
NM_005529.7(HSPG2):c.11208-7G>A
|
rs1336552092
|
|
NM_005529.7(HSPG2):c.4145_4163del (p.Leu1382fs)
|
rs1572304438
|
|
NM_005529.7(HSPG2):c.4595G>A (p.Cys1532Tyr)
|
rs137853248
|
|
NM_005529.7(HSPG2):c.7006+1G>A
|
rs778653296
|
|
NM_005529.7(HSPG2):c.7294+4A>G
|
rs1572220282
|
|
NM_005529.7(HSPG2):c.8464+4A>G
|
rs1572204991
|
|
NM_005529.7(HSPG2):c.8464G>A (p.Ala2822Thr)
|
rs748523693
|
|
NM_005529.7(HSPG2):c.8759-3_8764del
|
|
|
NM_005536.4(IMPA1):c.489_493dup (p.Ser165fs)
|
rs1057519491
|
|
NM_005548.3(KARS1):c.1696-2A>C
|
rs1299524768
|
|
NM_005548.3(KARS1):c.314T>A (p.Leu105His)
|
rs267607194
|
|
NM_005548.3(KARS1):c.430_431dup (p.Tyr145fs)
|
rs587776688
|
|
NM_005612.5(REST):c.1244G>C (p.Cys415Ser)
|
rs2109573013
|
|
NM_005612.5(REST):c.983-2247C>G
|
rs1720770872
|
|
NM_005645.4(TAF13):c.119T>A (p.Met40Lys)
|
rs1060505029
|
|
NM_005645.4(TAF13):c.92T>A (p.Leu31His)
|
rs1060505030
|
|
NM_005687.5(FARSB):c.1202G>A (p.Arg401Gln)
|
rs1553553086
|
|
NM_005687.5(FARSB):c.1381A>C (p.Thr461Pro)
|
rs1396171148
|
|
NM_005687.5(FARSB):c.1408del (p.Leu470fs)
|
rs2106209945
|
|
NM_005687.5(FARSB):c.1486delinsAA (p.His496fs)
|
rs1553549333
|
|
NM_005687.5(FARSB):c.460A>G (p.Arg154Gly)
|
rs2106230623
|
|
NM_005687.5(FARSB):c.848+1G>A
|
rs777071414
|
|
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys)
|
rs767956337
|
|
NM_005708.3(GPC6):c.320_711del
|
|
|
NM_005708.3(GPC6):c.712_877dup
|
|
|
NM_005708.5(GPC6):c.700C>T (p.Arg234Ter)
|
rs121908440
|
|
NM_005708.5(GPC6):c.778del (p.Leu260fs)
|
rs863223282
|
|
NM_005709.4(USH1C):c.1220del (p.Gly407fs)
|
rs1207247951
|
|
NM_005797.4(MPZL2):c.161del (p.Pro54fs)
|
|
|
NM_005797.4(MPZL2):c.463del (p.Ala155fs)
|
rs759432278
|
|
NM_005797.4(MPZL2):c.68del (p.Pro23fs)
|
|
|
NM_005797.4(MPZL2):c.[220C>T];[463del]
|
|
|
NM_005807.6(PRG4):c.1134dup (p.Lys379fs)
|
|
|
NM_005807.6(PRG4):c.1194del (p.Thr399fs)
|
rs748663740
|
|
NM_005807.6(PRG4):c.1320dup (p.Lys441fs)
|
rs1557943002
|
|
NM_005807.6(PRG4):c.1699del (p.Glu567fs)
|
|
|
NM_005807.6(PRG4):c.1911del (p.Glu638fs)
|
rs1571569884
|
|
NM_005807.6(PRG4):c.1935del (p.Glu646fs)
|
rs2102025845
|
|
NM_005807.6(PRG4):c.2215A>T (p.Lys739Ter)
|
rs776645239
|
|
NM_005807.6(PRG4):c.2806_2810del (p.Lys936fs)
|
rs763025365
|
|
NM_005807.6(PRG4):c.2816_2817del (p.Lys939fs)
|
|
|
NM_005807.6(PRG4):c.2841_2842del (p.Lys947fs)
|
rs1475926873
|
|
NM_005807.6(PRG4):c.2894_2898del (p.Thr965fs)
|
rs2102028973
|
|
NM_005807.6(PRG4):c.301G>T (p.Glu101Ter)
|
rs748999850
|
|
NM_005807.6(PRG4):c.3139_3140del (p.Lys1047fs)
|
rs1571575523
|
|
NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer)
|
rs769917456
|
|
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs)
|
rs769917456
|
|
NM_005807.6(PRG4):c.3277_3278del (p.Lys1093fs)
|
rs1258207620
|
|
NM_005807.6(PRG4):c.3486dup (p.Val1163fs)
|
rs2102031816
|
|
NM_005807.6(PRG4):c.3917_3934del (p.Arg1306_Ser1311del)
|
rs1571587012
|
|
NM_005807.6(PRG4):c.4101C>G (p.Tyr1367Ter)
|
rs1388040598
|
|
NM_005807.6(PRG4):c.4190_4191delinsAG (p.Ser1397Ter)
|
rs387906339
|
|
NM_005807.6(PRG4):c.849del (p.Val284fs)
|
rs1571563202
|
|
NM_005861.4(STUB1):c.168C>G (p.Asn56Lys)
|
|
|
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)
|
rs690016544
|
|
NM_005861.4(STUB1):c.235G>A (p.Ala79Thr)
|
rs587777346
|
|
NM_005861.4(STUB1):c.236C>A (p.Ala79Asp)
|
rs587777347
|
|
NM_005861.4(STUB1):c.367C>G (p.Leu123Val)
|
rs587777344
|
|
NM_005861.4(STUB1):c.389A>T (p.Asn130Ile)
|
rs587777341
|
|
NM_005861.4(STUB1):c.441G>T (p.Trp147Cys)
|
rs587777342
|
|
NM_005861.4(STUB1):c.493C>T (p.Leu165Phe)
|
rs587777340
|
|
NM_005861.4(STUB1):c.646dup (p.Ser216fs)
|
rs1555475283
|
|
NM_005861.4(STUB1):c.689_692del (p.Tyr230fs)
|
rs754446573
|
|
NM_005861.4(STUB1):c.737C>T (p.Thr246Met)
|
rs587777343
|
|
NM_005861.4(STUB1):c.885dup (p.Glu296Ter)
|
rs1567283195
|
|
NM_005866.4(SIGMAR1):c.125_126del (p.Ile42fs)
|
|
|
NM_005866.4(SIGMAR1):c.13del (p.Val5fs)
|
rs1564096761
|
|
NM_005866.4(SIGMAR1):c.14_20dup (p.Arg8fs)
|
rs1820936580
|
|
NM_005866.4(SIGMAR1):c.151+1G>T
|
rs796065352
|
|
NM_005866.4(SIGMAR1):c.19del (p.Arg7fs)
|
rs747285235
|
|
NM_005866.4(SIGMAR1):c.238C>T (p.Gln80Ter)
|
rs1564096221
|
|
NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs)
|
rs780136067
|
|
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln)
|
rs387906829
|
|
NM_005866.4(SIGMAR1):c.374C>A (p.Ser125Ter)
|
|
|
NM_005866.4(SIGMAR1):c.456_471del (p.Val153fs)
|
|
|
NM_005866.4(SIGMAR1):c.492G>A (p.Trp164Ter)
|
rs1242817438
|
|
NM_005876.5(SPEG):c.2915_2916delinsA (p.Ala972fs)
|
rs587777675
|
|
NM_005876.5(SPEG):c.3709_3715+29del
|
rs587777674
|
|
NM_005876.5(SPEG):c.4276C>T (p.Arg1426Ter)
|
rs587777673
|
|
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter)
|
rs587777672
|
|
NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val)
|
rs587777676
|
|
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
|
|
|
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs)
|
rs1575201712
|
|
NM_005879.3(TRAIP):c.52C>T (p.Arg18Cys)
|
rs864622784
|
|
NM_005881.4(BCKDK):c.222del (p.Met74fs)
|
rs2057392733
|
|
NM_005881.4(BCKDK):c.264+1G>C
|
|
|
NM_005881.4(BCKDK):c.50_71del (p.Leu17fs)
|
rs2143936992
|
|
NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro)
|
rs147210405
|
|
NM_005883.3(APC2):c.5199dup (p.Lys1734fs)
|
rs886040957
|
|
NM_005883.3(APC2):c.6620C>T (p.Pro2207Leu)
|
rs1338563418
|
|
NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu)
|
rs104894375
|
|
NM_005916.5(MCM7):c.1579C>T (p.Arg527Ter)
|
rs76705400
|
|
NM_005916.5(MCM7):c.415C>T (p.Gln139Ter)
|
rs1054083917
|
|
NM_005916.5(MCM7):c.776G>C (p.Gly259Ala)
|
rs758105856
|
|
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp)
|
rs80356459
|
|
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)
|
rs797044960
|
|
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser)
|
rs104894478
|
|
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)
|
rs104894478
|
|
NM_005982.4(SIX1):c.396G>C (p.Lys132Asn)
|
rs1303947821
|
|
NM_005982.4(SIX1):c.397_399del (p.Glu133del)
|
rs80356460
|
|
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs)
|
rs760337383
|
|
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs)
|
rs763677869
|
|
NM_006005.3(WFS1):c.1243_1245del (p.Val415del)
|
rs863224265
|
|
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del)
|
rs781262017
|
|
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter)
|
rs377544135
|
|
NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr)
|
rs104893882
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met)
|
rs28937894
|
|
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr)
|
rs28937893
|
|
NM_006005.3(WFS1):c.2477G>A (p.Ser826Asn)
|
rs1730968028
|
|
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)
|
rs104893883
|
|
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)
|
rs74315205
|
|
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)
|
rs797045076
|
|
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)
|
rs142428158
|
|
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)
|
rs587784483
|
|
NM_006012.4(CLPP):c.270+4A>G
|
rs398123035
|
|
NM_006012.4(CLPP):c.383_399dup (p.Asp134fs)
|
|
|
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro)
|
rs398123033
|
|
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser)
|
rs398123034
|
|
NM_006012.4(CLPP):c.624C>G (p.Ile208Met)
|
rs1555719766
|
|
NM_006014.5(LAGE3):c.188+1G>A
|
rs1557211410
|
|
NM_006014.5(LAGE3):c.316G>T (p.Val106Phe)
|
rs1557211306
|
|
NM_006014.5(LAGE3):c.410T>C (p.Phe137Ser)
|
rs1557211209
|
|
NM_006016.6(CD164):c.574C>T (p.Arg192Ter)
|
rs876661402
|
|
NM_006017.3(PROM1):c.139del (p.His47fs)
|
rs747512450
|
|
NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter)
|
rs1560449207
|
|
NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs)
|
rs1300041533
|
|
NM_006017.3(PROM1):c.784+1G>A
|
rs745704627
|
|
NM_006019.4(TCIRG1):c.1037_1040dup (p.Val348fs)
|
|
|
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter)
|
rs776436008
|
|
NM_006019.4(TCIRG1):c.1165+1G>C
|
rs780745598
|
|
NM_006019.4(TCIRG1):c.117+4A>T
|
rs751881962
|
|
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg)
|
rs137853150
|
|
NM_006019.4(TCIRG1):c.1230del (p.Leu411fs)
|
rs2134454279
|
|
NM_006019.4(TCIRG1):c.1348_1376dup (p.Phe459fs)
|
rs747511049
|
|
NM_006019.4(TCIRG1):c.1384_1386del (p.Asn462del)
|
rs771271907
|
|
NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter)
|
rs137853149
|
|
NM_006019.4(TCIRG1):c.1536C>A (p.Tyr512Ter)
|
|
|
NM_006019.4(TCIRG1):c.1674-1G>C
|
|
|
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)
|
rs1855655612
|
|
NM_006019.4(TCIRG1):c.1885C>T (p.Gln629Ter)
|
rs895239701
|
|
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)
|
rs1300297240
|
|
NM_006019.4(TCIRG1):c.196+1G>T
|
rs2134432498
|
|
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del)
|
rs780311417
|
|
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs)
|
rs1565164499
|
|
NM_006019.4(TCIRG1):c.2236+1G>C
|
rs1475338876
|
|
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)
|
rs748659068
|
|
NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)
|
|
|
NM_006019.4(TCIRG1):c.2383_2384del (p.Ala796fs)
|
rs1346704603
|
|
NM_006019.4(TCIRG1):c.242del (p.Pro81fs)
|
rs1208311085
|
|
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs)
|
rs1554995341
|
|
NM_006019.4(TCIRG1):c.504-6C>A
|
rs1028394725
|
|
NM_006019.4(TCIRG1):c.553del (p.Leu185fs)
|
rs1855280375
|
|
NM_006019.4(TCIRG1):c.630+2T>C
|
rs1392364437
|
|
NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)
|
|
|
NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter)
|
rs1156299579
|
|
NM_006019.4(TCIRG1):c.797del (p.Glu266fs)
|
rs1431956318
|
|
NM_006019.4(TCIRG1):c.807+2T>G
|
rs2134440422
|
|
NM_006019.4(TCIRG1):c.922del (p.Gln308fs)
|
rs1554996130
|
|
NM_006019.4(TCIRG1):c.969G>A (p.Trp323Ter)
|
rs2134442342
|
|
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs)
|
rs1565156743
|
|
NM_006118.4(HAX1):c.103_106del (p.Glu35fs)
|
|
|
NM_006118.4(HAX1):c.11_12del (p.Leu3_Phe4insTer)
|
|
|
NM_006118.4(HAX1):c.125dup (p.Ser43fs)
|
rs745666437
|
|
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter)
|
rs1572018284
|
|
NM_006118.4(HAX1):c.146del (p.Pro49fs)
|
rs2149139668
|
|
NM_006118.4(HAX1):c.154_155dup (p.Ser53fs)
|
|
|
NM_006118.4(HAX1):c.163C>T (p.Gln55Ter)
|
|
|
NM_006118.4(HAX1):c.166del (p.His56fs)
|
rs2149139706
|
|
NM_006118.4(HAX1):c.16del (p.Leu6fs)
|
|
|
NM_006118.4(HAX1):c.173del (p.Pro58fs)
|
|
|
NM_006118.4(HAX1):c.173dup (p.Pro58_Glu59insTer)
|
rs758657008
|
|
NM_006118.4(HAX1):c.214_217dup (p.Ile73fs)
|
rs2149139793
|
|
NM_006118.4(HAX1):c.216_217insC (p.Ile73fs)
|
|
|
NM_006118.4(HAX1):c.235_236del (p.Phe79fs)
|
rs2149139817
|
|
NM_006118.4(HAX1):c.314dup (p.Pro105_Glu106insTer)
|
|
|
NM_006118.4(HAX1):c.349G>T (p.Glu117Ter)
|
rs1487742962
|
|
NM_006118.4(HAX1):c.368_381del (p.Gln123fs)
|
rs1425877227
|
|
NM_006118.4(HAX1):c.372_373insGATA (p.Leu125fs)
|
rs2149139969
|
|
NM_006118.4(HAX1):c.376_434del (p.Arg126fs)
|
|
|
NM_006118.4(HAX1):c.383C>G (p.Ser128Ter)
|
rs1398108109
|
|
NM_006118.4(HAX1):c.430dup (p.Val144fs)
|
rs770288337
|
|
NM_006118.4(HAX1):c.432del (p.Leu145fs)
|
|
|
NM_006118.4(HAX1):c.43G>T (p.Gly15Ter)
|
|
|
NM_006118.4(HAX1):c.480G>A (p.Trp160Ter)
|
rs1392118289
|
|
NM_006118.4(HAX1):c.487C>T (p.Gln163Ter)
|
rs2149140056
|
|
NM_006118.4(HAX1):c.505-1G>C
|
|
|
NM_006118.4(HAX1):c.518G>A (p.Trp173Ter)
|
|
|
NM_006118.4(HAX1):c.556+1del
|
rs2149140495
|
|
NM_006118.4(HAX1):c.58dup (p.Arg20fs)
|
rs2149139493
|
|
NM_006118.4(HAX1):c.85C>T (p.Arg29Ter)
|
|
|
NM_006208.3(ENPP1):c.1273+1G>A
|
rs755969803
|
|
NM_006208.3(ENPP1):c.196_197del (p.Ala66fs)
|
rs2114643507
|
|
NM_006208.3(ENPP1):c.2192del (p.Asn731fs)
|
rs2114726975
|
|
NM_006208.3(ENPP1):c.2230C>T (p.Gln744Ter)
|
rs2114727013
|
|
NM_006208.3(ENPP1):c.2248dup (p.Ser750fs)
|
rs587776797
|
|
NM_006208.3(ENPP1):c.2444+702_*868del
|
|
|
NM_006208.3(ENPP1):c.26dup (p.Gly10fs)
|
rs1470739291
|
|
NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser)
|
rs121908249
|
|
NM_006208.3(ENPP1):c.430+1del
|
rs1554278331
|
|
NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter)
|
rs1805101
|
|
NM_006208.3(ENPP1):c.574del (p.Glu192fs)
|
rs1234826768
|
|
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val)
|
rs121908248
|
|
NM_006208.3(ENPP1):c.915+1G>A
|
rs2114702198
|
|
NM_006279.5(ST3GAL3):c.1068dup (p.Glu357fs)
|
rs1391400488
|
|
NM_006279.5(ST3GAL3):c.1108G>T (p.Asp370Tyr)
|
rs1557612719
|
|
NM_006279.5(ST3GAL3):c.38C>A (p.Ala13Asp)
|
rs387906943
|
|
NM_006279.5(ST3GAL3):c.891+1del
|
rs1387140766
|
|
NM_006297.3(XRCC1):c.1393C>T (p.Gln465Ter)
|
rs1555768154
|
|
NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter)
|
rs746506432
|
|
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)
|
rs80338767
|
|
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs)
|
rs1595286986
|
|
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg)
|
rs80338766
|
|
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro)
|
rs28939370
|
|
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)
|
rs145415848
|
|
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp)
|
rs370965183
|
|
NM_006383.4(CIB2):c.368T>C (p.Ile123Thr)
|
rs397515412
|
|
NM_006383.4(CIB2):c.476_479del (p.Asp159fs)
|
|
|
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser)
|
rs76857106
|
|
NM_006397.3(RNASEH2A):c.13G>T (p.Glu5Ter)
|
|
|
NM_006397.3(RNASEH2A):c.160del (p.Leu54fs)
|
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006397.3(RNASEH2A):c.223G>T (p.Glu75Ter)
|
rs753695101
|
|
NM_006397.3(RNASEH2A):c.229del (p.Glu77fs)
|
|
|
NM_006397.3(RNASEH2A):c.263_267dup (p.Gly90fs)
|
|
|
NM_006397.3(RNASEH2A):c.339_343dup (p.Ser115Ter)
|
|
|
NM_006397.3(RNASEH2A):c.346del (p.Leu116fs)
|
|
|
NM_006397.3(RNASEH2A):c.447C>A (p.Tyr149Ter)
|
|
|
NM_006397.3(RNASEH2A):c.471dup (p.Pro158fs)
|
|
|
NM_006397.3(RNASEH2A):c.543_544del (p.Ala182fs)
|
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006397.3(RNASEH2A):c.589del (p.Glu197fs)
|
rs781284373
|
|
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile)
|
rs377244188
|
|
NM_006397.3(RNASEH2A):c.657G>A (p.Trp219Ter)
|
rs2145830181
|
|
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=)
|
rs397515479
|
|
NM_006397.3(RNASEH2A):c.859T>C (p.Tyr287His)
|
|
|
NM_006397.3(RNASEH2A):c.87C>A (p.Cys29Ter)
|
|
|
NM_006432.5(NPC2):c.106G>T (p.Glu36Ter)
|
rs2139670174
|
|
NM_006432.5(NPC2):c.129del (p.Thr44fs)
|
|
|
NM_006432.5(NPC2):c.12_18del (p.Ala5fs)
|
|
|
NM_006432.5(NPC2):c.130_131del (p.Thr44fs)
|
|
|
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)
|
rs80358262
|
|
NM_006432.5(NPC2):c.157C>T (p.Gln53Ter)
|
rs2086712337
|
|
NM_006432.5(NPC2):c.165C>G (p.Tyr55Ter)
|
rs2086712268
|
|
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro)
|
rs11694
|
|
NM_006432.5(NPC2):c.210_213dup (p.Ala72fs)
|
rs2086689501
|
|
NM_006432.5(NPC2):c.279dup (p.Lys94Ter)
|
rs1376058648
|
|
NM_006432.5(NPC2):c.27del (p.Leu10fs)
|
rs80358267
|
|
NM_006432.5(NPC2):c.281dup (p.Ser95fs)
|
rs2139668010
|
|
NM_006432.5(NPC2):c.2T>A (p.Met1Lys)
|
|
|
NM_006432.5(NPC2):c.2T>G (p.Met1Arg)
|
|
|
NM_006432.5(NPC2):c.332del (p.Asn111fs)
|
rs80358265
|
|
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)
|
rs80358266
|
|
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.3G>T (p.Met1Ile)
|
|
|
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.58G>T (p.Glu20Ter)
|
rs80358260
|
|
NM_006432.5(NPC2):c.79dup (p.Cys27fs)
|
rs767899043
|
|
NM_006432.5(NPC2):c.82+2T>C
|
rs879253740
|
|
NM_006618.5(KDM5B):c.2117del (p.Cys706fs)
|
|
|
NM_006618.5(KDM5B):c.2830dup (p.Leu944fs)
|
|
|
NM_006618.5(KDM5B):c.3799del (p.Gln1267fs)
|
rs1558479778
|
|
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter)
|
rs1558478047
|
|
NM_006618.5(KDM5B):c.453_454del (p.Trp152fs)
|
|
|
NM_006618.5(KDM5B):c.622dup (p.Tyr208fs)
|
rs1558501648
|
|
NM_006618.5(KDM5B):c.787C>T (p.Pro263Ser)
|
rs375695605
|
|
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.1159del (p.Ala387fs)
|
rs778900414
|
|
NM_006642.5(SDCCAG8):c.1177del (p.Met392_Met393insTer)
|
|
|
NM_006642.5(SDCCAG8):c.1324dup (p.Gln442fs)
|
rs747911477
|
|
NM_006642.5(SDCCAG8):c.1339dup (p.Glu447fs)
|
rs387906218
|
|
NM_006642.5(SDCCAG8):c.1418dup (p.Glu474fs)
|
|
|
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)
|
rs397515335
|
|
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs)
|
rs587777847
|
|
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs)
|
rs1390963789
|
|
NM_006642.5(SDCCAG8):c.1628_1631del (p.Asp543fs)
|
rs587777846
|
|
NM_006642.5(SDCCAG8):c.1714C>T (p.Gln572Ter)
|
rs1573920009
|
|
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter)
|
rs2080721288
|
|
NM_006642.5(SDCCAG8):c.1946_1949del (p.Cys649fs)
|
rs397515336
|
|
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter)
|
rs756518004
|
|
NM_006642.5(SDCCAG8):c.221-2A>G
|
rs797045946
|
|
NM_006642.5(SDCCAG8):c.234dup (p.Asp79fs)
|
rs2149263988
|
|
NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter)
|
rs201658593
|
|
NM_006642.5(SDCCAG8):c.252del (p.Ala85fs)
|
|
|
NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter)
|
rs768207230
|
|
NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)
|
|
|
NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)
|
|
|
NM_006642.5(SDCCAG8):c.553_554del (p.Met185fs)
|
|
|
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)
|
rs797045948
|
|
NM_006642.5(SDCCAG8):c.629dup (p.Asn210fs)
|
|
|
NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer)
|
rs1558264626
|
|
NM_006642.5(SDCCAG8):c.741-152G>A
|
rs2072310236
|
|
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter)
|
rs149038104
|
|
NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)
|
|
|
NM_006642.5(SDCCAG8):c.82del (p.Ser28fs)
|
|
|
NM_006642.5(SDCCAG8):c.849T>A (p.Cys283Ter)
|
|
|
NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)
|
|
|
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs)
|
rs1033766338
|
|
NM_006721.4(ADK):c.704A>C (p.Asp235Ala)
|
rs397514453
|
|
NM_006721.4(ADK):c.89G>A (p.Gly30Glu)
|
rs397514454
|
|
NM_006721.4(ADK):c.953C>A (p.Ala318Glu)
|
rs397514452
|
|
NM_006736.6(DNAJB2):c.118G>T (p.Glu40Ter)
|
|
|
NM_006736.6(DNAJB2):c.119_120del (p.Glu40fs)
|
rs2125081805
|
|
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)
|
rs730882140
|
|
NM_006736.6(DNAJB2):c.204T>G (p.Tyr68Ter)
|
rs2125082259
|
|
NM_006736.6(DNAJB2):c.229+1G>A
|
rs730882139
|
|
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter)
|
rs1951895452
|
|
NM_006739.4(MCM5):c.1397C>T (p.Thr466Ile)
|
rs1131692169
|
|
NM_006765.4(TUSC3):c.1028G>C (p.Ser343Thr)
|
rs1554486894
|
|
NM_006765.4(TUSC3):c.163C>T (p.Gln55Ter)
|
rs387906804
|
|
NM_006765.4(TUSC3):c.225del (p.Lys75fs)
|
rs1554461593
|
|
NM_006765.4(TUSC3):c.420dup (p.Gln141fs)
|
rs773426468
|
|
NM_006765.4(TUSC3):c.786dup (p.Asn263fs)
|
rs1585215916
|
|
NM_006793.5(PRDX3):c.340dup (p.Ala114fs)
|
rs2133659317
|
|
NM_006793.5(PRDX3):c.37-2A>G
|
rs1368897658
|
|
NM_006793.5(PRDX3):c.489C>G (p.Asp163Glu)
|
|
|
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter)
|
rs140609531
|
|
NM_006793.5(PRDX3):c.658C>T (p.Gln220Ter)
|
|
|
NM_006796.3(AFG3L2):c.1858C>A (p.Gln620Lys)
|
rs1907907851
|
|
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)
|
rs727502823
|
|
NM_006796.3(AFG3L2):c.1901_1902del (p.Val633_Ser634insTer)
|
rs1907906060
|
|
NM_006796.3(AFG3L2):c.634dup (p.Val212fs)
|
rs2143196334
|
|
NM_006796.3(AFG3L2):c.916A>G (p.Lys306Glu)
|
rs1908569446
|
|
NM_006828.4(ASCC3):c.3434del (p.Lys1145fs)
|
rs759097017
|
|
NM_006828.4(ASCC3):c.3522dup (p.Cys1175fs)
|
|
|
NM_006828.4(ASCC3):c.3631C>T (p.Gln1211Ter)
|
|
|
NM_006828.4(ASCC3):c.4280C>T (p.Thr1427Met)
|
|
|
NM_006828.4(ASCC3):c.4415G>A (p.Arg1472Gln)
|
|
|
NM_006828.4(ASCC3):c.4553G>A (p.Arg1518His)
|
|
|
NM_006828.4(ASCC3):c.4690T>C (p.Ser1564Pro)
|
|
|
NM_006828.4(ASCC3):c.4955G>A (p.Gly1652Asp)
|
|
|
NM_006828.4(ASCC3):c.4984A>T (p.Ile1662Phe)
|
|
|
NM_006828.4(ASCC3):c.5281C>T (p.Arg1761Ter)
|
|
|
NM_006828.4(ASCC3):c.801+1G>T
|
rs1432792609
|
|
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter)
|
rs924297783
|
|
NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter)
|
rs1394583450
|
|
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter)
|
rs752777832
|
|
NM_006846.4(SPINK5):c.1233del (p.Glu412fs)
|
rs2113120213
|
|
NM_006846.4(SPINK5):c.1242_1246del (p.Lys415fs)
|
rs2113120242
|
|
NM_006846.4(SPINK5):c.1339G>T (p.Gly447Ter)
|
|
|
NM_006846.4(SPINK5):c.1431-12G>A
|
rs368134354
|
|
NM_006846.4(SPINK5):c.1437del (p.Glu480fs)
|
rs1554104853
|
|
NM_006846.4(SPINK5):c.153del (p.Gln52fs)
|
rs1752706120
|
|
NM_006846.4(SPINK5):c.1732C>T (p.Arg578Ter)
|
rs201674667
|
|
NM_006846.4(SPINK5):c.1816_1820+21delinsCT
|
rs1561695740
|
|
NM_006846.4(SPINK5):c.1825C>T (p.Gln609Ter)
|
rs1366194827
|
|
NM_006846.4(SPINK5):c.1915_1916del (p.Leu639fs)
|
rs1581096271
|
|
NM_006846.4(SPINK5):c.2038_2039del (p.Lys680fs)
|
rs2113177526
|
|
NM_006846.4(SPINK5):c.2038_2041del (p.Lys680fs)
|
|
|
NM_006846.4(SPINK5):c.2039_2049del (p.Lys680fs)
|
|
|
NM_006846.4(SPINK5):c.2098G>T (p.Gly700Ter)
|
|
|
NM_006846.4(SPINK5):c.211G>T (p.Glu71Ter)
|
|
|
NM_006846.4(SPINK5):c.216del (p.Glu73fs)
|
|
|
NM_006846.4(SPINK5):c.2264dup (p.Asn755fs)
|
rs748978134
|
|
NM_006846.4(SPINK5):c.2368C>T (p.Arg790Ter)
|
rs121908387
|
|
NM_006846.4(SPINK5):c.2423_2425del (p.Thr808del)
|
|
|
NM_006846.4(SPINK5):c.2468del (p.Lys823fs)
|
rs565782662
|
|
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs)
|
rs565782662
|
|
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
|
|
|
NM_006846.4(SPINK5):c.2472del (p.Glu825fs)
|
rs2113195147
|
|
NM_006846.4(SPINK5):c.2483del (p.Asp828fs)
|
|
|
NM_006846.4(SPINK5):c.2579del (p.Lys860fs)
|
rs1362009010
|
|
NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter)
|
rs1340491788
|
|
NM_006846.4(SPINK5):c.2622T>A (p.Tyr874Ter)
|
rs1057520643
|
|
NM_006846.4(SPINK5):c.2671C>T (p.Arg891Ter)
|
rs749828824
|
|
NM_006846.4(SPINK5):c.283-2A>T
|
rs587777749
|
|
NM_006846.4(SPINK5):c.2847_2851dup (p.Met951fs)
|
|
|
NM_006846.4(SPINK5):c.2870del (p.Leu957fs)
|
|
|
NM_006846.4(SPINK5):c.2953_2954del (p.Phe985fs)
|
rs1754451124
|
|
NM_006846.4(SPINK5):c.316_317del (p.Asp106fs)
|
rs763649250
|
|
NM_006846.4(SPINK5):c.354_357del (p.Cys119fs)
|
rs1561680487
|
|
NM_006846.4(SPINK5):c.355_371delinsGACAACATATGACAACAGATGAC (p.Cys119_Lys124delinsAspAsnIleTer)
|
rs1581064755
|
|
NM_006846.4(SPINK5):c.45C>A (p.Cys15Ter)
|
|
|
NM_006846.4(SPINK5):c.478del (p.Val160fs)
|
|
|
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter)
|
rs199757347
|
|
NM_006846.4(SPINK5):c.666+1G>T
|
|
|
NM_006846.4(SPINK5):c.679G>T (p.Glu227Ter)
|
rs1480221716
|
|
NM_006846.4(SPINK5):c.690del (p.Lys230fs)
|
rs1561684604
|
|
NM_006846.4(SPINK5):c.695_696del (p.Val232fs)
|
|
|
NM_006846.4(SPINK5):c.829_830del (p.Asp277fs)
|
|
|
NM_006846.4(SPINK5):c.850del (p.Glu284fs)
|
rs1581074967
|
|
NM_006846.4(SPINK5):c.882+1_882+3del
|
rs750225476
|
|
NM_006846.4(SPINK5):c.995del (p.Met332fs)
|
rs1561686960
|
|
NM_006892.4(DNMT3B):c.1453C>T (p.Arg485Ter)
|
|
|
NM_006892.4(DNMT3B):c.145C>T (p.Arg49Ter)
|
rs1978602545
|
|
NM_006892.4(DNMT3B):c.1466_1488del (p.Leu489fs)
|
|
|
NM_006892.4(DNMT3B):c.160C>T (p.Arg54Ter)
|
|
|
NM_006892.4(DNMT3B):c.1711C>T (p.Arg571Ter)
|
|
|
NM_006892.4(DNMT3B):c.1817T>C (p.Val606Ala)
|
|
|
NM_006892.4(DNMT3B):c.1838T>C (p.Val613Ala)
|
rs1568857280
|
|
NM_006892.4(DNMT3B):c.1987G>A (p.Gly663Ser)
|
rs121908942
|
|
NM_006892.4(DNMT3B):c.2044_2047del (p.Ser682fs)
|
|
|
NM_006892.4(DNMT3B):c.2197C>T (p.Arg733Ter)
|
|
|
NM_006892.4(DNMT3B):c.2237T>G (p.Val746Gly)
|
rs121908944
|
|
NM_006892.4(DNMT3B):c.2246C>A (p.Ser749Ter)
|
rs2146082310
|
|
NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser)
|
rs759448571
|
|
NM_006892.4(DNMT3B):c.2450A>G (p.Asp817Gly)
|
rs121908939
|
|
NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met)
|
rs121908940
|
|
NM_006892.4(DNMT3B):c.691G>T (p.Gly231Ter)
|
rs2145960216
|
|
NM_006892.4(DNMT3B):c.754C>T (p.Arg252Ter)
|
|
|
NM_006892.4(DNMT3B):c.780G>A (p.Trp260Ter)
|
rs1979652729
|
|
NM_006892.4(DNMT3B):c.808T>C (p.Ser270Pro)
|
rs121908947
|
|
NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter)
|
rs121908945
|
|
NM_006892.4(DNMT3B):c.996del (p.Met332fs)
|
rs2145982663
|
|
NM_006895.3(HNMT):c.179G>A (p.Gly60Asp)
|
rs758252808
|
|
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro)
|
rs745756308
|
|
NM_006907.4(PYCR1):c.11G>T (p.Gly4Val)
|
rs1598358440
|
|
NM_006907.4(PYCR1):c.11del (p.Gly4fs)
|
rs1598358449
|
|
NM_006907.4(PYCR1):c.345del (p.Arg116fs)
|
rs758601634
|
|
NM_006907.4(PYCR1):c.355C>G (p.Arg119Gly)
|
rs121918376
|
|
NM_006907.4(PYCR1):c.616G>T (p.Gly206Trp)
|
rs121918375
|
|
NM_006907.4(PYCR1):c.618_633+7del
|
rs1598354372
|
|
NM_006907.4(PYCR1):c.67+2T>A
|
rs2041207320
|
|
NM_006907.4(PYCR1):c.797+2_797+5del
|
rs1371235353
|
|
NM_006915.3(RP2):c.102+3A>C
|
rs1556313557
|
|
NM_006915.3(RP2):c.486_490del (p.Gly163fs)
|
rs1569531639
|
|
NM_006946.4(SPTBN2):c.1240C>T (p.Arg414Cys)
|
rs1318256630
|
|
NM_006946.4(SPTBN2):c.157+1G>A
|
rs2135558909
|
|
NM_006946.4(SPTBN2):c.1881C>A (p.Cys627Ter)
|
rs146859515
|
|
NM_006946.4(SPTBN2):c.2864_2868del (p.Thr955fs)
|
rs373728971
|
|
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs)
|
rs1590911156
|
|
NM_006984.5(CLDN10):c.138G>A (p.Trp46Ter)
|
|
|
NM_006984.5(CLDN10):c.144C>G (p.Asn48Lys)
|
rs759408749
|
|
NM_006984.5(CLDN10):c.2T>C (p.Met1Thr)
|
rs930701747
|
|
NM_006984.5(CLDN10):c.392C>T (p.Ser131Leu)
|
rs1555299783
|
|
NM_006984.5(CLDN10):c.653del (p.Pro218fs)
|
rs2043960821
|
|
NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter)
|
rs74315375
|
|
NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter)
|
rs1553211899
|
|
NM_006996.3(SLC19A2):c.1148_1149del (p.Val383fs)
|
rs1401027751
|
|
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe)
|
rs761957186
|
|
NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs)
|
rs1571537879
|
|
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter)
|
rs74315373
|
|
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs)
|
rs763099442
|
|
NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs)
|
rs1557894839
|
|
NM_006996.3(SLC19A2):c.697C>T (p.Gln233Ter)
|
rs1658342879
|
|
NM_006996.3(SLC19A2):c.725del (p.Pro242fs)
|
rs1571537544
|
|
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter)
|
rs74315374
|
|
NM_006996.3(SLC19A2):c.885del (p.Leu296fs)
|
rs1571532822
|
|
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter)
|
rs730880349
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)
|
rs786205207
|
|
NM_007254.4(PNKP):c.1227_1228del (p.Cys409_Glu410delinsTer)
|
rs1477525034
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007254.4(PNKP):c.1322_1323insAGCCG (p.Gly442fs)
|
rs886037744
|
|
NM_007254.4(PNKP):c.1549_1550insTGTACTGC (p.Gln517fs)
|
rs1555810613
|
|
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn)
|
rs879255237
|
|
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys)
|
rs1672558841
|
|
NM_012205.3(HAAO):c.141C>A (p.His47Gln)
|
rs746702852
|
|
NM_012205.3(HAAO):c.301G>T (p.Gly101Trp)
|
rs1672152382
|
|
NM_012205.3(HAAO):c.43del (p.Arg15fs)
|
rs1558680405
|
|
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter)
|
rs1135401743
|
|
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu)
|
rs376177973
|
|
NM_012210.4(TRIM32):c.1087del (p.Ala363fs)
|
|
|
NM_012210.4(TRIM32):c.1108del (p.Met370fs)
|
rs759376012
|
|
NM_012210.4(TRIM32):c.1185dup (p.Gln396fs)
|
rs1180939705
|
|
NM_012210.4(TRIM32):c.1188del (p.Val397fs)
|
|
|
NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter)
|
rs747266069
|
|
NM_012210.4(TRIM32):c.1370dup (p.Leu457fs)
|
rs35904234
|
|
NM_012210.4(TRIM32):c.1505C>G (p.Ser502Ter)
|
|
|
NM_012210.4(TRIM32):c.1518_1530del (p.Lys506fs)
|
rs2132075143
|
|
NM_012210.4(TRIM32):c.1560del (p.Cys521fs)
|
rs1588218453
|
|
NM_012210.4(TRIM32):c.1563dup (p.Asp522Ter)
|
|
|
NM_012210.4(TRIM32):c.1569_1575del (p.Glu524fs)
|
rs886044106
|
|
NM_012210.4(TRIM32):c.1603del (p.Leu535fs)
|
rs2132075382
|
|
NM_012210.4(TRIM32):c.1685del (p.Gly562fs)
|
rs1564218190
|
|
NM_012210.4(TRIM32):c.190del (p.Cys64fs)
|
|
|
NM_012210.4(TRIM32):c.201del (p.Thr68fs)
|
|
|
NM_012210.4(TRIM32):c.232_235del (p.Asp78fs)
|
|
|
NM_012210.4(TRIM32):c.341del (p.Ser114fs)
|
|
|
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)
|
rs749696299
|
|
NM_012210.4(TRIM32):c.476_477dup (p.Met160fs)
|
rs2132071763
|
|
NM_012210.4(TRIM32):c.484del (p.Glu162fs)
|
|
|
NM_012210.4(TRIM32):c.498del (p.Lys167fs)
|
|
|
NM_012210.4(TRIM32):c.542_543insAAAGGTA (p.Tyr181Ter)
|
rs2132072043
|
|
NM_012210.4(TRIM32):c.606_607del (p.Arg203fs)
|
rs2132072315
|
|
NM_012210.4(TRIM32):c.699_700delinsCT (p.Gln234Ter)
|
|
|
NM_012210.4(TRIM32):c.741_745dup (p.Ala249fs)
|
|
|
NM_012210.4(TRIM32):c.758del (p.Leu253fs)
|
rs1861000401
|
|
NM_012210.4(TRIM32):c.763G>T (p.Glu255Ter)
|
|
|
NM_012210.4(TRIM32):c.826C>T (p.Gln276Ter)
|
|
|
NM_012210.4(TRIM32):c.868C>T (p.Gln290Ter)
|
rs1272966742
|
|
NM_012210.4(TRIM32):c.885del (p.Lys296fs)
|
|
|
NM_012210.4(TRIM32):c.920G>A (p.Trp307Ter)
|
|
|
NM_012210.4(TRIM32):c.921G>A (p.Trp307Ter)
|
|
|
NM_012210.4(TRIM32):c.928G>T (p.Glu310Ter)
|
|
|
NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter)
|
|
|
NM_012233.3(RAB3GAP1):c.1237-2A>G
|
rs1558792168
|
|
NM_012233.3(RAB3GAP1):c.1247del (p.Pro416fs)
|
|
|
NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter)
|
rs1558792256
|
|
NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter)
|
rs267606996
|
|
NM_012233.3(RAB3GAP1):c.1440_1441del (p.Trp481fs)
|
|
|
NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter)
|
rs1691647986
|
|
NM_012233.3(RAB3GAP1):c.1555-1G>A
|
rs1573584395
|
|
NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter)
|
rs137853053
|
|
NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter)
|
rs1573585099
|
|
NM_012233.3(RAB3GAP1):c.2011C>T (p.Arg671Ter)
|
rs137853052
|
|
NM_012233.3(RAB3GAP1):c.2037_2055dup (p.Phe686fs)
|
rs587777153
|
|
NM_012233.3(RAB3GAP1):c.2187_2188delinsCT (p.Met729_Lys730delinsIleTer)
|
rs2104983369
|
|
NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter)
|
rs1558805781
|
|
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter)
|
rs1558805900
|
|
NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter)
|
rs797045905
|
|
NM_012233.3(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs)
|
rs730882184
|
|
NM_012233.3(RAB3GAP1):c.2710-1G>A
|
|
|
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs)
|
rs730882182
|
|
NM_012233.3(RAB3GAP1):c.2853C>G (p.Tyr951Ter)
|
|
|
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter)
|
rs1553444644
|
|
NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter)
|
rs1558782178
|
|
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro)
|
rs587777154
|
|
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs)
|
rs1064794536
|
|
NM_012233.3(RAB3GAP1):c.649-2A>G
|
rs730882183
|
|
NM_012233.3(RAB3GAP1):c.659del (p.Pro219_Leu220insTer)
|
|
|
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val)
|
rs587777155
|
|
NM_012233.3(RAB3GAP1):c.748+1G>A
|
rs587776651
|
|
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe)
|
rs878853243
|
|
NM_012414.4(RAB3GAP2):c.1348dup (p.Ser450fs)
|
|
|
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter)
|
rs587777168
|
|
NM_012414.4(RAB3GAP2):c.1998+1G>A
|
rs2102866054
|
|
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs)
|
rs1553275687
|
|
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGGTTTT (p.Gln789fs)
|
|
|
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter)
|
rs587777170
|
|
NM_012414.4(RAB3GAP2):c.340del (p.Met114fs)
|
|
|
NM_012414.4(RAB3GAP2):c.3613del (p.Met1205fs)
|
|
|
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter)
|
rs587777169
|
|
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del)
|
rs1553278569
|
|
NM_012414.4(RAB3GAP2):c.694C>T (p.Arg232Ter)
|
|
|
NM_012448.4(STAT5B):c.1009C>T (p.Gln337Ter)
|
rs2080191165
|
|
NM_012448.4(STAT5B):c.1102del (p.Gln368fs)
|
rs761761205
|
|
NM_012448.4(STAT5B):c.1102dup (p.Gln368fs)
|
rs761761205
|
|
NM_012448.4(STAT5B):c.1191dup (p.Asn398fs)
|
|
|
NM_012448.4(STAT5B):c.1213_1229del (p.Tyr405fs)
|
|
|
NM_012448.4(STAT5B):c.121C>T (p.Gln41Ter)
|
rs767959957
|
|
NM_012448.4(STAT5B):c.1421A>G (p.Gln474Arg)
|
rs1555548680
|
|
NM_012448.4(STAT5B):c.1680+1del
|
|
|
NM_012448.4(STAT5B):c.16C>T (p.Gln6Ter)
|
|
|
NM_012448.4(STAT5B):c.1718G>A (p.Trp573Ter)
|
rs2144219508
|
|
NM_012448.4(STAT5B):c.1749del (p.Lys583fs)
|
|
|
NM_012448.4(STAT5B):c.1888G>C (p.Ala630Pro)
|
rs121908501
|
|
NM_012448.4(STAT5B):c.1906C>T (p.Gln636Ter)
|
|
|
NM_012448.4(STAT5B):c.1924A>C (p.Asn642His)
|
rs938448224
|
|
NM_012448.4(STAT5B):c.2065G>T (p.Glu689Ter)
|
rs778995803
|
|
NM_012448.4(STAT5B):c.303C>A (p.Cys101Ter)
|
|
|
NM_012448.4(STAT5B):c.415C>T (p.Gln139Ter)
|
|
|
NM_012448.4(STAT5B):c.424_427del (p.Leu142fs)
|
rs2144267361
|
|
NM_012448.4(STAT5B):c.454C>T (p.Arg152Ter)
|
rs121908502
|
|
NM_012448.4(STAT5B):c.530A>C (p.Gln177Pro)
|
rs1555549674
|
|
NM_012448.4(STAT5B):c.89_90dup (p.Arg31fs)
|
|
|
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs)
|
rs1956563926
|
|
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del
|
rs367543007
|
|
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs)
|
rs1220385043
|
|
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs)
|
rs1566294545
|
|
NM_012463.4(ATP6V0A2):c.294+1G>A
|
rs80356751
|
|
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer)
|
rs1956462432
|
|
NM_012473.4(TXN2):c.71G>A (p.Trp24Ter)
|
rs754022333
|
|
NM_012478.4(WBP2):c.487A>C (p.Met163Leu)
|
rs1555604710
|
|
NM_012478.4(WBP2):c.671C>T (p.Ala224Val)
|
rs1555604549
|
|
NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter)
|
rs1060499797
|
|
NM_013335.4(GMPPA):c.1000A>C (p.Thr334Pro)
|
rs397518461
|
|
NM_013335.4(GMPPA):c.1118G>C (p.Ser373Thr)
|
rs1694593071
|
|
NM_013335.4(GMPPA):c.118del (p.His40fs)
|
|
|
NM_013335.4(GMPPA):c.210del (p.Ala71fs)
|
rs886037654
|
|
NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp)
|
rs397518462
|
|
NM_013335.4(GMPPA):c.642G>A (p.Trp214Ter)
|
rs2125639654
|
|
NM_013335.4(GMPPA):c.790C>T (p.Arg264Ter)
|
|
|
NM_013335.4(GMPPA):c.853+1G>A
|
rs1553624347
|
|
NM_013374.6(PDCD6IP):c.154_158dup (p.Val54fs)
|
|
|
NM_013382.5(POMT2):c.1170_1171del
|
rs764210532
|
|
NM_013382.7(POMT2):c.1034_1035del (p.Val345fs)
|
rs1890825132
|
|
NM_013382.7(POMT2):c.1046_1052del (p.Arg349fs)
|
|
|
NM_013382.7(POMT2):c.1051del (p.Ala351fs)
|
|
|
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs)
|
rs886042401
|
|
NM_013382.7(POMT2):c.1130T>A (p.Leu377Ter)
|
|
|
NM_013382.7(POMT2):c.1158dup (p.Ile387fs)
|
|
|
NM_013382.7(POMT2):c.118_119del (p.Arg40fs)
|
|
|
NM_013382.7(POMT2):c.1243G>T (p.Glu415Ter)
|
|
|
NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)
|
|
|
NM_013382.7(POMT2):c.1293dup (p.Met432fs)
|
rs1555352706
|
|
NM_013382.7(POMT2):c.1300del (p.Arg434fs)
|
rs2140188352
|
|
NM_013382.7(POMT2):c.1311T>G (p.Tyr437Ter)
|
|
|
NM_013382.7(POMT2):c.1333-14G>A
|
rs918556979
|
|
NM_013382.7(POMT2):c.139_145del (p.Trp47fs)
|
|
|
NM_013382.7(POMT2):c.1412_1413dup (p.Ser472fs)
|
|
|
NM_013382.7(POMT2):c.1413_1414del (p.Arg473fs)
|
|
|
NM_013382.7(POMT2):c.1495C>T (p.Gln499Ter)
|
|
|
NM_013382.7(POMT2):c.1555G>T (p.Glu519Ter)
|
rs1379963762
|
|
NM_013382.7(POMT2):c.1577T>A (p.Leu526Ter)
|
|
|
NM_013382.7(POMT2):c.1658dup (p.Asn553fs)
|
rs886043110
|
|
NM_013382.7(POMT2):c.1661del (p.Ser554fs)
|
|
|
NM_013382.7(POMT2):c.1712dup (p.Ile572fs)
|
rs780725241
|
|
NM_013382.7(POMT2):c.1740_1741del (p.Val582fs)
|
|
|
NM_013382.7(POMT2):c.1754_1755del (p.Thr585fs)
|
rs1555351894
|
|
NM_013382.7(POMT2):c.1768dup (p.Tyr590fs)
|
|
|
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter)
|
rs1566644018
|
|
NM_013382.7(POMT2):c.1911_1912delinsGT (p.Arg638Ter)
|
|
|
NM_013382.7(POMT2):c.1927_1943del (p.Val643fs)
|
|
|
NM_013382.7(POMT2):c.1967del (p.Leu656fs)
|
|
|
NM_013382.7(POMT2):c.1981del (p.Leu661fs)
|
|
|
NM_013382.7(POMT2):c.2021dup (p.Ser674fs)
|
|
|
NM_013382.7(POMT2):c.2064T>A (p.Cys688Ter)
|
|
|
NM_013382.7(POMT2):c.2147+1G>A
|
|
|
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)
|
rs1452558347
|
|
NM_013382.7(POMT2):c.2197del (p.Gln733fs)
|
rs1292248431
|
|
NM_013382.7(POMT2):c.2243G>C (p.Trp748Ser)
|
rs267606967
|
|
NM_013382.7(POMT2):c.227T>A (p.Leu76Ter)
|
|
|
NM_013382.7(POMT2):c.383del (p.Leu128fs)
|
|
|
NM_013382.7(POMT2):c.435_438dup (p.Phe147fs)
|
|
|
NM_013382.7(POMT2):c.524_533del (p.Leu175fs)
|
|
|
NM_013382.7(POMT2):c.648C>A (p.Cys216Ter)
|
rs147871747
|
|
NM_013382.7(POMT2):c.672del (p.Trp225fs)
|
rs1566656247
|
|
NM_013382.7(POMT2):c.673del (p.Trp225fs)
|
rs1594796439
|
|
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter)
|
rs778947923
|
|
NM_013382.7(POMT2):c.678del (p.Trp226fs)
|
rs755660222
|
|
NM_013382.7(POMT2):c.70dup (p.Gln24fs)
|
|
|
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
|
|
|
NM_013382.7(POMT2):c.791del (p.Leu264fs)
|
rs1891020302
|
|
NM_013382.7(POMT2):c.816+1G>T
|
|
|
NM_013382.7(POMT2):c.824_825del (p.Val275fs)
|
|
|
NM_013382.7(POMT2):c.879_880del (p.Thr295fs)
|
rs752440109
|
|
NM_013382.7(POMT2):c.924-2A>C
|
rs886044256
|
|
NM_013382.7(POMT2):c.924-2A>G
|
rs886044256
|
|
NM_013403.3(STRN4):c.282+78C>T
|
rs1555735545
|
|
NM_014026.6(DCPS):c.201+2T>C
|
rs1057519083
|
|
NM_014028.4(OSTM1):c.36T>A (p.Cys12Ter)
|
rs119460973
|
|
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs)
|
rs794727287
|
|
NM_014028.4(OSTM1):c.486del (p.Phe162fs)
|
rs1582396088
|
|
NM_014028.4(OSTM1):c.783+5G>T
|
rs1554250938
|
|
NM_014028.4(OSTM1):c.949+5G>A
|
rs1562370077
|
|
NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg)
|
rs1558121050
|
|
NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr)
|
rs267606819
|
|
NM_014168.4(METTL5):c.224+1G>A
|
|
|
NM_014168.4(METTL5):c.344_345del (p.Arg115fs)
|
rs1573972562
|
|
NM_014168.4(METTL5):c.571_572del (p.Lys191fs)
|
rs1573965358
|
|
NM_014168.4(METTL5):c.591+2T>G
|
rs1400976065
|
|
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs)
|
rs574936510
|
|
NM_014264.5(PLK4):c.2811-5C>G
|
rs724159995
|
|
NM_014321.4(ORC6):c.1A>G (p.Met1Val)
|
rs777153067
|
|
NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer)
|
rs786205258
|
|
NM_014321.4(ORC6):c.602_605del (p.Lys201fs)
|
rs879255692
|
|
NM_014321.4(ORC6):c.65G>A (p.Arg22Lys)
|
rs2143010039
|
|
NM_014321.4(ORC6):c.695A>C (p.Tyr232Ser)
|
rs387906969
|
|
NM_014321.4(ORC6):c.71C>T (p.Ala24Val)
|
rs1279789023
|
|
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe)
|
rs775364986
|
|
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)
|
rs1468041544
|
|
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp)
|
rs748210823
|
|
NM_014336.5(AIPL1):c.34dup (p.Val12fs)
|
rs752193525
|
|
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)
|
rs1284009768
|
|
NM_014363.6(SACS):c.10444_10447del (p.Leu3482fs)
|
|
|
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)
|
rs786204416
|
|
NM_014363.6(SACS):c.10634_10635del (p.Val3545fs)
|
rs2137573354
|
|
NM_014363.6(SACS):c.10644del (p.Phe3548fs)
|
rs1555250160
|
|
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)
|
rs779338945
|
|
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)
|
rs1360298758
|
|
NM_014363.6(SACS):c.10932dup (p.Leu3645fs)
|
rs2137570842
|
|
NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs)
|
|
|
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
|
|
|
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)
|
rs1400601705
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.11601_11604del (p.Lys3867fs)
|
|
|
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs)
|
rs1593121924
|
|
NM_014363.6(SACS):c.1185_1194del (p.Cys395fs)
|
rs2137724246
|
|
NM_014363.6(SACS):c.1189dup (p.Ser397fs)
|
|
|
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter)
|
rs1593121484
|
|
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro)
|
rs2137561906
|
|
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter)
|
rs2137561134
|
|
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro)
|
rs137853016
|
|
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)
|
rs141315518
|
|
NM_014363.6(SACS):c.12268C>A (p.His4090Asn)
|
rs2137559913
|
|
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)
|
rs1057516365
|
|
NM_014363.6(SACS):c.12529dup (p.Tyr4177fs)
|
|
|
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter)
|
rs2137557832
|
|
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)
|
rs1555249555
|
|
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
|
|
|
NM_014363.6(SACS):c.12839del (p.Phe4280fs)
|
rs1197238841
|
|
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)
|
rs786204628
|
|
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)
|
rs1057517294
|
|
NM_014363.6(SACS):c.13017C>A (p.Asp4339Glu)
|
|
|
NM_014363.6(SACS):c.13319C>A (p.Ser4440Ter)
|
|
|
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser)
|
rs1566054340
|
|
NM_014363.6(SACS):c.13527dup (p.Glu4510fs)
|
rs797045936
|
|
NM_014363.6(SACS):c.1358del (p.Gly453fs)
|
rs2137722808
|
|
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)
|
rs923921184
|
|
NM_014363.6(SACS):c.1769_1770del (p.Val590fs)
|
rs1383333220
|
|
NM_014363.6(SACS):c.1919_1920del (p.His640fs)
|
rs797045937
|
|
NM_014363.6(SACS):c.2060del (p.Asp687fs)
|
rs2137716138
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.237dup (p.Ser80fs)
|
rs770311689
|
|
NM_014363.6(SACS):c.2387del (p.Leu796fs)
|
|
|
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)
|
rs1555255676
|
|
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)
|
rs1593133395
|
|
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)
|
rs1259615333
|
|
NM_014363.6(SACS):c.2938_2939del (p.Met980fs)
|
rs1593133306
|
|
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp)
|
rs1566071225
|
|
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser)
|
rs137853019
|
|
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)
|
rs2137636957
|
|
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)
|
rs770866403
|
|
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)
|
rs144267558
|
|
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter)
|
rs1246013998
|
|
NM_014363.6(SACS):c.3585del (p.Ile1195fs)
|
rs2137634136
|
|
NM_014363.6(SACS):c.4033dup (p.Gln1345fs)
|
rs606231163
|
|
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile)
|
rs1566069517
|
|
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter)
|
rs199474695
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
NM_014363.6(SACS):c.4233_4236del (p.Leu1412fs)
|
|
|
NM_014363.6(SACS):c.429_430del (p.Trp144fs)
|
|
|
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter)
|
rs1555252345
|
|
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)
|
rs1444216187
|
|
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg)
|
rs2137625077
|
|
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro)
|
rs764992284
|
|
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)
|
rs765361868
|
|
NM_014363.6(SACS):c.4835dup (p.Phe1614fs)
|
rs2137624079
|
|
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
|
rs770901638
|
|
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
|
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
|
rs1868872666
|
|
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)
|
rs1566067485
|
|
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)
|
rs1485209013
|
|
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp)
|
rs2137616027
|
|
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs)
|
rs2137615500
|
|
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)
|
rs137853017
|
|
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
|
rs773754134
|
|
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)
|
rs761655321
|
|
NM_014363.6(SACS):c.6172del (p.Ser2058fs)
|
rs1214399996
|
|
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs)
|
rs1555251822
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)
|
rs770490672
|
|
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln)
|
rs1868700605
|
|
NM_014363.6(SACS):c.6837dup (p.Glu2280fs)
|
rs748765057
|
|
NM_014363.6(SACS):c.699del (p.Asp235fs)
|
rs1415870785
|
|
NM_014363.6(SACS):c.7106C>T (p.Pro2369Leu)
|
|
|
NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter)
|
rs1555251553
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.7255_7259del (p.Glu2419fs)
|
|
|
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro)
|
rs771583552
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.7641dup (p.Glu2548fs)
|
rs876657720
|
|
NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter)
|
rs1213203489
|
|
NM_014363.6(SACS):c.8227del (p.His2743fs)
|
rs2137593965
|
|
NM_014363.6(SACS):c.8239dup (p.Ile2747fs)
|
|
|
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
|
|
|
NM_014363.6(SACS):c.832C>T (p.Gln278Ter)
|
rs1555254439
|
|
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs)
|
rs876657721
|
|
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)
|
rs753012964
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.914_915del (p.Thr305fs)
|
rs2137726985
|
|
NM_014363.6(SACS):c.9272_9275del (p.Ser3091fs)
|
|
|
NM_014363.6(SACS):c.9311del (p.Thr3104fs)
|
|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
|
rs1175545518
|
|
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg)
|
rs137853018
|
|
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter)
|
rs2137580127
|
|
NM_014396.4(VPS41):c.1898G>C (p.Arg633Pro)
|
rs1244049089
|
|
NM_014396.4(VPS41):c.2372G>T (p.Cys791Phe)
|
rs1246628003
|
|
NM_014396.4(VPS41):c.450+1G>T
|
rs2116102196
|
|
NM_014415.4(ZBTB11):c.154C>T (p.Arg52Trp)
|
|
|
NM_014415.4(ZBTB11):c.2185C>T (p.His729Tyr)
|
rs1559982532
|
|
NM_014415.4(ZBTB11):c.2640T>G (p.His880Gln)
|
rs1559981249
|
|
NM_014415.4(ZBTB11):c.2668A>G (p.Thr890Ala)
|
|
|
NM_014415.4(ZBTB11):c.2734C>T (p.Arg912Trp)
|
|
|
NM_014415.4(ZBTB11):c.2779C>T (p.Arg927Ter)
|
|
|
NM_014415.4(ZBTB11):c.85_97del (p.Val29fs)
|
|
|
NM_014415.4(ZBTB11):c.907A>T (p.Ile303Phe)
|
|
|
NM_014425.5(INVS):c.1037C>A (p.Ser346Ter)
|
|
|
NM_014425.5(INVS):c.1162_1163del (p.Val388fs)
|
|
|
NM_014425.5(INVS):c.1211del (p.Asp404fs)
|
|
|
NM_014425.5(INVS):c.1317C>A (p.Cys439Ter)
|
|
|
NM_014425.5(INVS):c.1354C>T (p.Gln452Ter)
|
|
|
NM_014425.5(INVS):c.1367del (p.Gly456fs)
|
|
|
NM_014425.5(INVS):c.1465G>T (p.Gly489Ter)
|
|
|
NM_014425.5(INVS):c.1478T>C (p.Leu493Ser)
|
rs121964995
|
|
NM_014425.5(INVS):c.1503C>G (p.Tyr501Ter)
|
|
|
NM_014425.5(INVS):c.1566_1567AG[4] (p.Tyr525fs)
|
|
|
NM_014425.5(INVS):c.1663C>T (p.Gln555Ter)
|
|
|
NM_014425.5(INVS):c.1690del (p.Ala564fs)
|
|
|
NM_014425.5(INVS):c.1717A>T (p.Lys573Ter)
|
|
|
NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)
|
|
|
NM_014425.5(INVS):c.1760del (p.Gln587fs)
|
rs1833004339
|
|
NM_014425.5(INVS):c.177_180dup (p.Leu61fs)
|
rs1564123602
|
|
NM_014425.5(INVS):c.1793_1794del (p.Glu598fs)
|
|
|
NM_014425.5(INVS):c.1811_1812del (p.Lys604fs)
|
rs1588145141
|
|
NM_014425.5(INVS):c.1812del (p.Glu605fs)
|
|
|
NM_014425.5(INVS):c.1822del (p.Gln608fs)
|
|
|
NM_014425.5(INVS):c.2002G>T (p.Gly668Ter)
|
rs764384987
|
|
NM_014425.5(INVS):c.2012del (p.Gln671fs)
|
|
|
NM_014425.5(INVS):c.2056A>T (p.Arg686Ter)
|
rs150001738
|
|
NM_014425.5(INVS):c.2116del (p.Arg706fs)
|
|
|
NM_014425.5(INVS):c.2225dup (p.Lys743fs)
|
|
|
NM_014425.5(INVS):c.2230C>T (p.Gln744Ter)
|
|
|
NM_014425.5(INVS):c.2299dup (p.Leu767fs)
|
|
|
NM_014425.5(INVS):c.2322G>A (p.Trp774Ter)
|
|
|
NM_014425.5(INVS):c.2372dup (p.Lys792fs)
|
rs2118762244
|
|
NM_014425.5(INVS):c.2449dup (p.Glu817fs)
|
|
|
NM_014425.5(INVS):c.245del (p.Arg82fs)
|
|
|
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs)
|
rs777723411
|
|
NM_014425.5(INVS):c.2509C>T (p.Gln837Ter)
|
rs755549444
|
|
NM_014425.5(INVS):c.2614C>T (p.Gln872Ter)
|
|
|
NM_014425.5(INVS):c.2618dup (p.Ser874fs)
|
|
|
NM_014425.5(INVS):c.2622dup (p.Lys875Ter)
|
|
|
NM_014425.5(INVS):c.2659C>T (p.Gln887Ter)
|
|
|
NM_014425.5(INVS):c.2716_2717del (p.Glu906fs)
|
|
|
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter)
|
rs267607185
|
|
NM_014425.5(INVS):c.2729del (p.Lys910fs)
|
rs757019335
|
|
NM_014425.5(INVS):c.2786+2T>C
|
rs1322951938
|
|
NM_014425.5(INVS):c.2801del (p.Lys934fs)
|
rs2118781593
|
|
NM_014425.5(INVS):c.2844_2848del (p.Asp949fs)
|
|
|
NM_014425.5(INVS):c.2887C>T (p.Gln963Ter)
|
rs1425211517
|
|
NM_014425.5(INVS):c.2894G>A (p.Trp965Ter)
|
|
|
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter)
|
rs1329661241
|
|
NM_014425.5(INVS):c.2996C>G (p.Ser999Ter)
|
|
|
NM_014425.5(INVS):c.302_305del (p.Leu101fs)
|
|
|
NM_014425.5(INVS):c.321G>A (p.Trp107Ter)
|
|
|
NM_014425.5(INVS):c.325C>T (p.Gln109Ter)
|
|
|
NM_014425.5(INVS):c.337del (p.Glu113fs)
|
|
|
NM_014425.5(INVS):c.342_343del (p.Glu114fs)
|
|
|
NM_014425.5(INVS):c.497_512dup (p.His171fs)
|
rs779545419
|
|
NM_014425.5(INVS):c.497del (p.Lys166fs)
|
|
|
NM_014425.5(INVS):c.630dup (p.Glu211fs)
|
|
|
NM_014425.5(INVS):c.648G>A (p.Trp216Ter)
|
|
|
NM_014425.5(INVS):c.662dup (p.Arg222fs)
|
rs769739938
|
|
NM_014425.5(INVS):c.664C>T (p.Arg222Ter)
|
|
|
NM_014425.5(INVS):c.673_674del (p.Leu225fs)
|
rs1205325321
|
|
NM_014425.5(INVS):c.753T>G (p.Tyr251Ter)
|
rs2118494165
|
|
NM_014425.5(INVS):c.766C>T (p.Arg256Ter)
|
|
|
NM_014425.5(INVS):c.805_806del (p.Gln269fs)
|
|
|
NM_014425.5(INVS):c.833del (p.Asn278fs)
|
|
|
NM_014425.5(INVS):c.83del (p.Gly28fs)
|
rs763565647
|
|
NM_014425.5(INVS):c.983G>A (p.Trp328Ter)
|
|
|
NM_014425.5(INVS):c.[796+5G>A;805_806del]
|
|
|
NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)del
|
|
|
NM_014687.4(RUBCN):c.2624del (p.Ala875fs)
|
rs587777235
|
|
NM_014687.4(RUBCN):c.2647-2A>G
|
|
|
NM_014704.4(CEP104):c.1232del (p.Gly411fs)
|
|
|
NM_014704.4(CEP104):c.1901dup (p.Leu634fs)
|
rs1411591918
|
|
NM_014704.4(CEP104):c.2356_2357insTT (p.Cys786fs)
|
rs2124647615
|
|
NM_014704.4(CEP104):c.643C>T (p.Arg215Ter)
|
rs759675006
|
|
NM_014714.4(IFT140):c.3141+1G>T
|
rs764770536
|
|
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
|
|
|
NM_014714.4(IFT140):c.3454-488_4182+2588dup
|
|
|
NM_014714.4(IFT140):c.874G>A (p.Val292Met)
|
rs431905521
|
|
NM_014780.5(CUL7):c.1570-3C>A
|
rs730880263
|
|
NM_014780.5(CUL7):c.2064-1G>A
|
rs2150328634
|
|
NM_014780.5(CUL7):c.2150_2151insA (p.Asn719fs)
|
|
|
NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter)
|
rs201406974
|
|
NM_014780.5(CUL7):c.2943_2944del (p.Cys982fs)
|
rs1064792895
|
|
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter)
|
rs1581930130
|
|
NM_014780.5(CUL7):c.3173-1G>C
|
rs864309521
|
|
NM_014780.5(CUL7):c.3991_3992del (p.Leu1331fs)
|
|
|
NM_014780.5(CUL7):c.418_419del (p.Thr140fs)
|
rs1764489246
|
|
NM_014780.5(CUL7):c.4297C>T (p.Gln1433Ter)
|
rs377169342
|
|
NM_014780.5(CUL7):c.4451_4452del (p.Val1484fs)
|
rs730880261
|
|
NM_014780.5(CUL7):c.4651C>T (p.Gln1551Ter)
|
|
|
NM_014780.5(CUL7):c.4770_4773del (p.Cys1590fs)
|
rs2150304168
|
|
NM_014780.5(CUL7):c.652del (p.Arg218fs)
|
rs1581962986
|
|
NM_014780.5(CUL7):c.[2164C>T;4911dup]
|
|
|
NM_014780.5(CUL7):c.[3129G>A;4763T>C]
|
|
|
NM_014797.3(ZBTB24):c.1118C>G (p.Ser373Ter)
|
rs1213180923
|
|
NM_014797.3(ZBTB24):c.1125_1135del (p.Gln375fs)
|
|
|
NM_014797.3(ZBTB24):c.1161del (p.Phe387fs)
|
|
|
NM_014797.3(ZBTB24):c.1272_1281del (p.Leu425fs)
|
|
|
NM_014797.3(ZBTB24):c.1439dup (p.His480fs)
|
|
|
NM_014797.3(ZBTB24):c.226_227del (p.Ile76fs)
|
|
|
NM_014797.3(ZBTB24):c.350_351del (p.Lys117fs)
|
|
|
NM_014797.3(ZBTB24):c.377_378del (p.Thr126fs)
|
|
|
NM_014797.3(ZBTB24):c.389del (p.Asn130fs)
|
|
|
NM_014797.3(ZBTB24):c.396_397del (p.His132fs)
|
rs1562305058
|
|
NM_014797.3(ZBTB24):c.431del (p.Gly144fs)
|
|
|
NM_014797.3(ZBTB24):c.44_50del (p.His15fs)
|
|
|
NM_014797.3(ZBTB24):c.501dup (p.Val168fs)
|
rs780371205
|
|
NM_014797.3(ZBTB24):c.593_594del (p.Phe198fs)
|
|
|
NM_014797.3(ZBTB24):c.658G>T (p.Glu220Ter)
|
|
|
NM_014797.3(ZBTB24):c.787A>T (p.Lys263Ter)
|
|
|
NM_014797.3(ZBTB24):c.795dup (p.Asp266fs)
|
|
|
NM_014797.3(ZBTB24):c.825_844del (p.His276fs)
|
|
|
NM_014797.3(ZBTB24):c.833C>G (p.Ser278Ter)
|
rs1582683374
|
|
NM_014797.3(ZBTB24):c.868_875dup (p.Arg295fs)
|
|
|
NM_014797.3(ZBTB24):c.888dup (p.Lys297Ter)
|
rs1776399868
|
|
NM_014797.3(ZBTB24):c.909dup (p.Lys304Ter)
|
rs770082593
|
|
NM_014797.3(ZBTB24):c.911_914del (p.Lys304fs)
|
|
|
NM_014797.3(ZBTB24):c.953-2A>G
|
|
|
NM_014797.3(ZBTB24):c.971_972delinsAA (p.Cys324Ter)
|
|
|
NM_014797.3(ZBTB24):c.993del (p.Phe331fs)
|
|
|
NM_014797.3(ZBTB24):c.997C>T (p.Gln333Ter)
|
|
|
NM_014798.3(PLEKHM1):c.296+1G>A
|
rs786205055
|
|
NM_014806.5(RUSC2):c.2596C>T (p.Arg866Ter)
|
rs1402086660
|
|
NM_014806.5(RUSC2):c.3952C>T (p.Arg1318Ter)
|
rs1554645052
|
|
NM_014813.2(LRIG2):c.1980_1981insJX891452.1:g.1_371 (p.Ile662Phefs)
|
|
|
NM_014813.3(LRIG2):c.1230del (p.Glu410fs)
|
rs587776945
|
|
NM_014813.3(LRIG2):c.2088del (p.Ser697fs)
|
rs587776947
|
|
NM_014813.3(LRIG2):c.2125C>T (p.Arg709Ter)
|
rs587776946
|
|
NM_014865.4(NCAPD2):c.4120+2T>C
|
rs1555141158
|
|
NM_014875.3(KIF14):c.2354_2355del (p.Lys785fs)
|
|
|
NM_014875.3(KIF14):c.246del (p.Asn83fs)
|
rs1553264036
|
|
NM_014875.3(KIF14):c.2480_2482del (p.Val827del)
|
rs1553259539
|
|
NM_014875.3(KIF14):c.2545C>G (p.His849Asp)
|
rs1553259528
|
|
NM_014875.3(KIF14):c.263T>A (p.Leu88Ter)
|
rs1553264033
|
|
NM_014875.3(KIF14):c.3662G>T (p.Gly1221Val)
|
rs981349334
|
|
NM_014875.3(KIF14):c.4071G>A (p.Gln1357=)
|
rs1553254322
|
|
NM_014875.3(KIF14):c.4432del (p.Ser1478fs)
|
rs1553253022
|
|
NM_014889.4(PITRM1):c.2236-1dup
|
rs2132393459
|
|
NM_014918.5(CHSY1):c.14del (p.Gly5fs)
|
rs1567112402
|
|
NM_014918.5(CHSY1):c.1616C>G (p.Pro539Arg)
|
rs387906985
|
|
NM_014918.5(CHSY1):c.205C>T (p.Gln69Ter)
|
rs387906984
|
|
NM_014918.5(CHSY1):c.321-3C>G
|
rs1567106459
|
|
NM_014918.5(CHSY1):c.55_84del (p.Gly19_Leu28del)
|
|
|
NM_014918.5(CHSY1):c.96del (p.Glu33fs)
|
rs1596459125
|
|
NM_014956.5(CEP164):c.1179_1180delinsCT (p.Lys393_Glu394delinsAsnTer)
|
|
|
NM_014956.5(CEP164):c.1257del (p.Ser420fs)
|
|
|
NM_014956.5(CEP164):c.1264_1265insTGGCTGG (p.His422fs)
|
rs2042674113
|
|
NM_014956.5(CEP164):c.1298del (p.Leu433fs)
|
|
|
NM_014956.5(CEP164):c.1444C>T (p.Gln482Ter)
|
rs2136139535
|
|
NM_014956.5(CEP164):c.1481dup (p.Pro495fs)
|
rs752518735
|
|
NM_014956.5(CEP164):c.1482del (p.Gln496fs)
|
|
|
NM_014956.5(CEP164):c.1501C>T (p.Gln501Ter)
|
|
|
NM_014956.5(CEP164):c.151C>T (p.Arg51Ter)
|
|
|
NM_014956.5(CEP164):c.1534dup (p.Glu512fs)
|
|
|
NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter)
|
rs387907311
|
|
NM_014956.5(CEP164):c.1657C>T (p.Gln553Ter)
|
|
|
NM_014956.5(CEP164):c.1819C>T (p.Gln607Ter)
|
|
|
NM_014956.5(CEP164):c.1921G>T (p.Glu641Ter)
|
|
|
NM_014956.5(CEP164):c.1996G>T (p.Glu666Ter)
|
rs2136318333
|
|
NM_014956.5(CEP164):c.2044C>T (p.Gln682Ter)
|
|
|
NM_014956.5(CEP164):c.241C>T (p.Gln81Ter)
|
|
|
NM_014956.5(CEP164):c.2481del (p.Tyr828fs)
|
|
|
NM_014956.5(CEP164):c.2535_2536dup (p.Glu846fs)
|
|
|
NM_014956.5(CEP164):c.2656G>T (p.Gly886Ter)
|
rs377597884
|
|
NM_014956.5(CEP164):c.266dup (p.Asp89fs)
|
rs1565454034
|
|
NM_014956.5(CEP164):c.2688_2691del (p.Arg897fs)
|
rs1317765862
|
|
NM_014956.5(CEP164):c.2836G>T (p.Glu946Ter)
|
|
|
NM_014956.5(CEP164):c.2942_2943del (p.Glu981fs)
|
rs2136450623
|
|
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)
|
rs1323529877
|
|
NM_014956.5(CEP164):c.2998del (p.Ile1000fs)
|
|
|
NM_014956.5(CEP164):c.3039_3040dup (p.Gln1014fs)
|
|
|
NM_014956.5(CEP164):c.3109C>T (p.Gln1037Ter)
|
rs2136466034
|
|
NM_014956.5(CEP164):c.3193del (p.Asp1065fs)
|
|
|
NM_014956.5(CEP164):c.32A>C (p.Gln11Pro)
|
rs387907309
|
|
NM_014956.5(CEP164):c.347_348insT (p.Lys116fs)
|
rs1565455033
|
|
NM_014956.5(CEP164):c.349_352del (p.Glu117fs)
|
|
|
NM_014956.5(CEP164):c.3528del (p.Lys1176fs)
|
|
|
NM_014956.5(CEP164):c.3598_3599del (p.Trp1201fs)
|
|
|
NM_014956.5(CEP164):c.3685dup (p.Leu1229fs)
|
|
|
NM_014956.5(CEP164):c.3711_3712del (p.Ser1238fs)
|
rs2047013877
|
|
NM_014956.5(CEP164):c.3732G>A (p.Trp1244Ter)
|
|
|
NM_014956.5(CEP164):c.381del (p.Ser129fs)
|
|
|
NM_014956.5(CEP164):c.381dup (p.Lys128fs)
|
rs747914869
|
|
NM_014956.5(CEP164):c.4001G>A (p.Trp1334Ter)
|
|
|
NM_014956.5(CEP164):c.4006_4025del (p.Trp1336fs)
|
|
|
NM_014956.5(CEP164):c.40_41del (p.Leu14fs)
|
|
|
NM_014956.5(CEP164):c.4286+1G>T
|
rs2047400808
|
|
NM_014956.5(CEP164):c.4381T>C (p.Ter1461Arg)
|
rs1565649749
|
|
NM_014956.5(CEP164):c.591_593delinsCTCCATATATGAGGACAAGACTGCTCTCAGC (p.Leu198fs)
|
|
|
NM_014956.5(CEP164):c.749dup (p.Gly250_Asp251insTer)
|
rs1402460878
|
|
NM_014956.5(CEP164):c.88_89del (p.Ile29_Leu30insTer)
|
|
|
NM_014956.5(CEP164):c.893del (p.Gly298fs)
|
|
|
NM_014994.3(MAPKBP1):c.1270_1271del (p.Ser424fs)
|
rs2152080114
|
|
NM_014994.3(MAPKBP1):c.1613G>A (p.Arg538Gln)
|
rs1057519305
|
|
NM_014994.3(MAPKBP1):c.2426-1G>A
|
rs1057519306
|
|
NM_014994.3(MAPKBP1):c.2809C>T (p.Gln937Ter)
|
rs752616462
|
|
NM_014994.3(MAPKBP1):c.592C>T (p.Arg198Ter)
|
rs1057519303
|
|
NM_015028.4(TNIK):c.538C>T (p.Arg180Ter)
|
rs886037841
|
|
NM_015046.5(SETX):c.[1807A>G;1957C>A]
|
|
|
NM_015046.5(SETX):c.[3880C>T;822G>H]
|
|
|
NM_015046.6(SETX):c.6848_6851delCAGA
|
|
|
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter)
|
rs121434381
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro)
|
rs2131461009
|
|
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs)
|
rs745775419
|
|
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter)
|
rs121434377
|
|
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs)
|
rs587776536
|
|
NM_015046.7(SETX):c.3247T>C (p.Phe1083Leu)
|
rs2131444517
|
|
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)
|
|
|
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
|
|
|
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del)
|
rs587776537
|
|
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter)
|
rs2131440608
|
|
NM_015046.7(SETX):c.387_388+2del
|
|
|
NM_015046.7(SETX):c.4679dup (p.Asn1560fs)
|
rs746973259
|
|
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)
|
rs759213174
|
|
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)
|
|
|
NM_015046.7(SETX):c.4931_4932del (p.Ile1644fs)
|
rs2131428041
|
|
NM_015046.7(SETX):c.5019del (p.Val1674fs)
|
|
|
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)
|
rs1589734405
|
|
NM_015046.7(SETX):c.5264del (p.Thr1755fs)
|
rs776632212
|
|
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.6215_6216del (p.Glu2072fs)
|
rs1564492117
|
|
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter)
|
rs1844047388
|
|
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter)
|
rs879253866
|
|
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
|
|
|
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)
|
rs1473613373
|
|
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu)
|
rs28940290
|
|
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs)
|
rs1362178149
|
|
NM_015046.7(SETX):c.719G>A (p.Gly240Asp)
|
rs1589757407
|
|
NM_015046.7(SETX):c.7292dup (p.Asn2431fs)
|
rs2131115543
|
|
NM_015102.5(NPHP4):c.1082_1083dup (p.Tyr362fs)
|
rs2101924403
|
|
NM_015102.5(NPHP4):c.1271del (p.Lys424fs)
|
rs770306587
|
|
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)
|
rs780905861
|
|
NM_015102.5(NPHP4):c.1336C>T (p.Gln446Ter)
|
|
|
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs)
|
rs1553178047
|
|
NM_015102.5(NPHP4):c.1500del (p.Leu502fs)
|
|
|
NM_015102.5(NPHP4):c.1692_1704del (p.Ala565fs)
|
|
|
NM_015102.5(NPHP4):c.1704dup (p.Gln569fs)
|
|
|
NM_015102.5(NPHP4):c.1705C>T (p.Gln569Ter)
|
rs113413307
|
|
NM_015102.5(NPHP4):c.1715del (p.Pro572fs)
|
|
|
NM_015102.5(NPHP4):c.175C>T (p.Arg59Ter)
|
rs753774833
|
|
NM_015102.5(NPHP4):c.1804C>T (p.Gln602Ter)
|
|
|
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs)
|
rs1553200990
|
|
NM_015102.5(NPHP4):c.1936C>T (p.Gln646Ter)
|
rs2101131514
|
|
NM_015102.5(NPHP4):c.1956-2A>C
|
rs1271993311
|
|
NM_015102.5(NPHP4):c.1998_1999del (p.Tyr667fs)
|
rs1644833186
|
|
NM_015102.5(NPHP4):c.2007del (p.Phe670fs)
|
rs1235304713
|
|
NM_015102.5(NPHP4):c.2026_2027del (p.Pro676fs)
|
|
|
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)
|
rs547495754
|
|
NM_015102.5(NPHP4):c.202dup (p.Arg68fs)
|
|
|
NM_015102.5(NPHP4):c.2144-1G>A
|
|
|
NM_015102.5(NPHP4):c.2304+1G>A
|
rs757412845
|
|
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)
|
rs137852922
|
|
NM_015102.5(NPHP4):c.2368G>T (p.Glu790Ter)
|
rs137852918
|
|
NM_015102.5(NPHP4):c.2377C>T (p.Gln793Ter)
|
rs137852919
|
|
NM_015102.5(NPHP4):c.257_258del (p.Pro86fs)
|
|
|
NM_015102.5(NPHP4):c.2611C>T (p.Arg871Ter)
|
rs2100733826
|
|
NM_015102.5(NPHP4):c.2626C>T (p.Gln876Ter)
|
rs2100678099
|
|
NM_015102.5(NPHP4):c.2773C>T (p.Gln925Ter)
|
|
|
NM_015102.5(NPHP4):c.2821_2822insT (p.Gln941fs)
|
|
|
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs)
|
rs1168286961
|
|
NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs)
|
rs398124289
|
|
NM_015102.5(NPHP4):c.2972T>C (p.Phe991Ser)
|
rs28940891
|
|
NM_015102.5(NPHP4):c.3083del (p.Gly1028fs)
|
rs1557616007
|
|
NM_015102.5(NPHP4):c.3083dup (p.Ala1029fs)
|
|
|
NM_015102.5(NPHP4):c.3148del (p.Gln1050fs)
|
|
|
NM_015102.5(NPHP4):c.3196C>T (p.Gln1066Ter)
|
|
|
NM_015102.5(NPHP4):c.3272dup (p.Ser1092fs)
|
|
|
NM_015102.5(NPHP4):c.3282G>A (p.Trp1094Ter)
|
rs763668545
|
|
NM_015102.5(NPHP4):c.3368_3369del (p.Val1123fs)
|
rs1474013513
|
|
NM_015102.5(NPHP4):c.3418G>T (p.Glu1140Ter)
|
|
|
NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter)
|
rs2100466824
|
|
NM_015102.5(NPHP4):c.3506del (p.Pro1169fs)
|
rs775221217
|
|
NM_015102.5(NPHP4):c.3506dup (p.Val1170fs)
|
|
|
NM_015102.5(NPHP4):c.3644+1G>T
|
rs756111113
|
|
NM_015102.5(NPHP4):c.3700C>T (p.Gln1234Ter)
|
|
|
NM_015102.5(NPHP4):c.3773_3776del (p.Val1258fs)
|
rs776535691
|
|
NM_015102.5(NPHP4):c.3798_3799del (p.His1267fs)
|
rs2100405990
|
|
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs)
|
rs1557580413
|
|
NM_015102.5(NPHP4):c.477del (p.Arg160fs)
|
|
|
NM_015102.5(NPHP4):c.517+1G>A
|
rs1419875412
|
|
NM_015102.5(NPHP4):c.517C>T (p.Gln173Ter)
|
rs997408852
|
|
NM_015102.5(NPHP4):c.518-1G>C
|
rs1650418400
|
|
NM_015102.5(NPHP4):c.60_61del (p.Arg20fs)
|
rs770357627
|
|
NM_015102.5(NPHP4):c.750dup (p.Ser251fs)
|
rs754862360
|
|
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs)
|
rs781558715
|
|
NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val)
|
rs863225465
|
|
NM_015114.3(ANKLE2):c.1891+1701_2615+14delinsA
|
|
|
NM_015114.3(ANKLE2):c.601G>T (p.Gly201Trp)
|
rs1185537869
|
|
NM_015114.3(ANKLE2):c.706C>T (p.Arg236Ter)
|
|
|
NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs)
|
rs1060500034
|
|
NM_015120.4(ALMS1):c.11551del
|
rs1675622361
|
|
NM_015120.4(ALMS1):c.[3902C>A];[6436C>T]
|
|
|
NM_015120.4:c.(?_9911)_(11550_?)del
|
|
|
NM_015120.4:c.11054_11055ins[N[333];11041_11054]
|
|
|
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)
|
rs753611141
|
|
NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu)
|
rs869025292
|
|
NM_015160.3(PMPCA):c.64C>T (p.Arg22Trp)
|
rs1057519454
|
|
NM_015189.1:c.2122+15447_2197-59588del
|
|
|
NM_015189.3(EXOC6B):c.401T>G (p.Leu134Ter)
|
rs2104774484
|
|
NM_015189.3(EXOC6B):c.906T>A (p.Tyr302Ter)
|
rs1294100541
|
|
NM_015205.3(ATP11A):c.3322_3327+2dup
|
rs2140433062
|
|
NM_015261.3(NCAPD3):c.1783del (p.Val595fs)
|
rs1555139372
|
|
NM_015261.3(NCAPD3):c.3278_3281del (p.Lys1093fs)
|
rs773824610
|
|
NM_015261.3(NCAPD3):c.3458A>C (p.Glu1153Ala)
|
rs1350194762
|
|
NM_015261.3(NCAPD3):c.382+14A>G
|
rs1555143325
|
|
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)
|
rs863225217
|
|
NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter)
|
rs1555616593
|
|
NM_015272.5(RPGRIP1L):c.1243+1G>A
|
rs863225218
|
|
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)
|
rs778149316
|
|
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs)
|
rs863225216
|
|
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)
|
rs267607020
|
|
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)
|
rs121918200
|
|
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs)
|
rs387906243
|
|
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)
|
rs542206983
|
|
NM_015272.5(RPGRIP1L):c.2305-1G>A
|
rs863225215
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
NM_015272.5(RPGRIP1L):c.3701+1G>T
|
rs863225219
|
|
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)
|
rs121918199
|
|
NM_015275.3(WASHC4):c.1324C>T (p.Gln442Ter)
|
rs2135773055
|
|
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys)
|
rs768574664
|
|
NM_015275.3(WASHC4):c.3056C>G (p.Pro1019Arg)
|
rs587777411
|
|
NM_015275.3(WASHC4):c.3143A>G (p.Asp1048Gly)
|
rs1212552985
|
|
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs)
|
rs386834000
|
|
NM_015294.6(TRIM37):c.137_138del (p.Glu46fs)
|
|
|
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs)
|
rs386834002
|
|
NM_015294.6(TRIM37):c.1949-12A>G
|
rs1409660715
|
|
NM_015294.6(TRIM37):c.1999C>T (p.Arg667Ter)
|
|
|
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter)
|
rs386834003
|
|
NM_015294.6(TRIM37):c.2212del (p.Glu738fs)
|
rs386833416
|
|
NM_015294.6(TRIM37):c.2377_2378del (p.Leu793fs)
|
|
|
NM_015294.6(TRIM37):c.2437_2438insAT (p.Leu813fs)
|
|
|
NM_015294.6(TRIM37):c.326G>C (p.Cys109Ser)
|
rs121908391
|
|
NM_015294.6(TRIM37):c.370-1G>A
|
|
|
NM_015294.6(TRIM37):c.447del (p.Lys149fs)
|
rs1197523487
|
|
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_015311.3(OBSL1):c.1068_1075dup (p.Val359fs)
|
rs2106102918
|
|
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter)
|
rs1559155954
|
|
NM_015311.3(OBSL1):c.1149C>A (p.Cys383Ter)
|
rs121918215
|
|
NM_015311.3(OBSL1):c.1256_1265del (p.Arg419fs)
|
rs1335171880
|
|
NM_015311.3(OBSL1):c.1260dup (p.Val421fs)
|
|
|
NM_015311.3(OBSL1):c.1359dup (p.Glu454fs)
|
|
|
NM_015311.3(OBSL1):c.1465C>T (p.Arg489Ter)
|
rs121918216
|
|
NM_015311.3(OBSL1):c.2164del (p.Asp722fs)
|
rs1696816233
|
|
NM_015311.3(OBSL1):c.2474del (p.Val825fs)
|
rs1057518716
|
|
NM_015311.3(OBSL1):c.35dup (p.Cys13fs)
|
rs752401295
|
|
NM_015311.3(OBSL1):c.457_458delinsT (p.Gly153fs)
|
rs1559160379
|
|
NM_015311.3(OBSL1):c.458dup (p.Leu154fs)
|
rs767237510
|
|
NM_015311.3(OBSL1):c.690dup (p.Glu231fs)
|
rs1553538488
|
|
NM_015311.3(OBSL1):c.848del (p.Gly283fs)
|
rs773698181
|
|
NM_015311.3(OBSL1):c.[1273dup;836G>A]
|
|
|
NM_015311.3(OBSL1):c.[1273dup];[35dup]
|
|
|
NM_015340.3(LARS2):c.[1912G>A];[899C>T]
|
|
|
NM_015340.4(LARS2):c.1077del (p.Ile360fs)
|
rs398123037
|
|
NM_015340.4(LARS2):c.1783del (p.Ala595fs)
|
rs2125750668
|
|
NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys)
|
rs864309643
|
|
NM_015340.4(LARS2):c.371A>T (p.Asn124Ile)
|
rs776171893
|
|
NM_015340.4(LARS2):c.41_42del (p.Leu14fs)
|
rs1698009919
|
|
NM_015340.4(LARS2):c.683G>A (p.Arg228His)
|
rs770440975
|
|
NM_015341.5(NCAPH):c.728C>T (p.Pro243Leu)
|
rs1553446603
|
|
NM_015359.6(SLC39A14):c.477_478del (p.Ser160fs)
|
rs879253765
|
|
NM_015378.4(VPS13D):c.10142-2A>G
|
|
|
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser)
|
rs1557737087
|
|
NM_015378.4(VPS13D):c.11926del (p.Gln3976fs)
|
|
|
NM_015378.4(VPS13D):c.12350C>G (p.Ser4117Ter)
|
rs1645321968
|
|
NM_015378.4(VPS13D):c.12683G>A (p.Arg4228Gln)
|
rs1557478316
|
|
NM_015378.4(VPS13D):c.2020C>T (p.Arg674Ter)
|
rs756025227
|
|
NM_015378.4(VPS13D):c.3316C>T (p.Gln1106Ter)
|
rs1557680710
|
|
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp)
|
rs1557680919
|
|
NM_015378.4(VPS13D):c.5409C>A (p.Tyr1803Ter)
|
rs1557684974
|
|
NM_015378.4(VPS13D):c.5725+2dup
|
|
|
NM_015378.4(VPS13D):c.7334_7335del (p.Val2445fs)
|
rs1557705968
|
|
NM_015378.4(VPS13D):c.9871+2T>C
|
|
|
NM_015404.4(WHRN):c.1817del (p.Asp606fs)
|
|
|
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter)
|
rs137852839
|
|
NM_015404.4(WHRN):c.2423del (p.Gly808fs)
|
rs869320674
|
|
NM_015404.4(WHRN):c.26C>A (p.Ser9Ter)
|
rs776268964
|
|
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter)
|
rs137852840
|
|
NM_015404.4(WHRN):c.35C>A (p.Ser12Ter)
|
|
|
NM_015404.4(WHRN):c.680dup (p.Tyr228fs)
|
rs1306987034
|
|
NM_015404.4(WHRN):c.737del (p.Pro246fs)
|
rs1589229634
|
|
NM_015404.4(WHRN):c.837+1G>A
|
rs2133130286
|
|
NM_015404.4(WHRN):c.856dup (p.Asp286fs)
|
rs1064794551
|
|
NM_015474.3(SAMHD1):c.-6085_209-1941del
|
|
|
NM_015474.4(SAMHD1):c.101dup (p.Leu36fs)
|
rs752942007
|
|
NM_015474.4(SAMHD1):c.1022_1028del (p.Val340_Cys341insTer)
|
rs2063478568
|
|
NM_015474.4(SAMHD1):c.1034del (p.Asn345fs)
|
rs2146116814
|
|
NM_015474.4(SAMHD1):c.1053dup (p.Arg352Ter)
|
|
|
NM_015474.4(SAMHD1):c.1104_1111dup (p.Arg371fs)
|
|
|
NM_015474.4(SAMHD1):c.1105_1106del (p.Leu369fs)
|
rs2063446897
|
|
NM_015474.4(SAMHD1):c.1123C>T (p.Gln375Ter)
|
rs2148365710
|
|
NM_015474.4(SAMHD1):c.1169_1179del (p.Ala389_Phe390insTer)
|
|
|
NM_015474.4(SAMHD1):c.1169del (p.Phe390fs)
|
|
|
NM_015474.4(SAMHD1):c.1180_1181del (p.Ala393_Asp394insTer)
|
|
|
NM_015474.4(SAMHD1):c.1211del (p.Gly404fs)
|
|
|
NM_015474.4(SAMHD1):c.1219dup (p.Tyr407fs)
|
|
|
NM_015474.4(SAMHD1):c.1256dup (p.Tyr419Ter)
|
|
|
NM_015474.4(SAMHD1):c.127A>T (p.Lys43Ter)
|
rs2146160649
|
|
NM_015474.4(SAMHD1):c.1321dup (p.Ala441fs)
|
rs2063399418
|
|
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)
|
rs369587937
|
|
NM_015474.4(SAMHD1):c.1334dup (p.Leu445fs)
|
rs2148360598
|
|
NM_015474.4(SAMHD1):c.1389del (p.Gly464fs)
|
|
|
NM_015474.4(SAMHD1):c.1408del (p.Arg470fs)
|
rs1568762986
|
|
NM_015474.4(SAMHD1):c.1419del (p.Asp472_Tyr473insTer)
|
rs2148359769
|
|
NM_015474.4(SAMHD1):c.1433_1434dup (p.Glu479fs)
|
|
|
NM_015474.4(SAMHD1):c.1435G>T (p.Glu479Ter)
|
rs2063392759
|
|
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
|
|
|
NM_015474.4(SAMHD1):c.1444_1453del (p.Ser482fs)
|
rs2148359722
|
|
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)
|
rs768409471
|
|
NM_015474.4(SAMHD1):c.1512_1513del (p.Met505fs)
|
|
|
NM_015474.4(SAMHD1):c.152_155dup (p.Phe53fs)
|
rs2063734182
|
|
NM_015474.4(SAMHD1):c.1552_1553del (p.His517_Val518insTer)
|
|
|
NM_015474.4(SAMHD1):c.1566dup (p.Lys523Ter)
|
|
|
NM_015474.4(SAMHD1):c.1567A>T (p.Lys523Ter)
|
rs1601113209
|
|
NM_015474.4(SAMHD1):c.1584del (p.Ala529fs)
|
rs2148355967
|
|
NM_015474.4(SAMHD1):c.1609-1G>C
|
rs515726143
|
|
NM_015474.4(SAMHD1):c.1612del (p.Ser538fs)
|
|
|
NM_015474.4(SAMHD1):c.1618del (p.Leu540fs)
|
|
|
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)
|
rs149846637
|
|
NM_015474.4(SAMHD1):c.181G>T (p.Glu61Ter)
|
rs747918559
|
|
NM_015474.4(SAMHD1):c.196A>T (p.Lys66Ter)
|
rs2146160463
|
|
NM_015474.4(SAMHD1):c.287del (p.Glu96fs)
|
|
|
NM_015474.4(SAMHD1):c.328del (p.Ile110fs)
|
rs759706198
|
|
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter)
|
rs121434518
|
|
NM_015474.4(SAMHD1):c.460del (p.Tyr154fs)
|
rs2063594580
|
|
NM_015474.4(SAMHD1):c.465T>G (p.Tyr155Ter)
|
|
|
NM_015474.4(SAMHD1):c.477_478dup (p.Ala160fs)
|
|
|
NM_015474.4(SAMHD1):c.494_495dup (p.Glu166fs)
|
rs1601144527
|
|
NM_015474.4(SAMHD1):c.555dup (p.Gln186fs)
|
|
|
NM_015474.4(SAMHD1):c.568_577del (p.Gln190fs)
|
rs1328663348
|
|
NM_015474.4(SAMHD1):c.56del (p.Pro19fs)
|
|
|
NM_015474.4(SAMHD1):c.577G>T (p.Glu193Ter)
|
|
|
NM_015474.4(SAMHD1):c.602_625+196delinsGAAATT
|
rs2146131738
|
|
NM_015474.4(SAMHD1):c.638_647del (p.Phe213fs)
|
rs2146127824
|
|
NM_015474.4(SAMHD1):c.66del (p.Ser23fs)
|
rs1442728513
|
|
NM_015474.4(SAMHD1):c.693G>A (p.Trp231Ter)
|
rs2063541685
|
|
NM_015474.4(SAMHD1):c.700G>T (p.Glu234Ter)
|
rs1219206348
|
|
NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter)
|
rs750807433
|
|
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val)
|
rs121434521
|
|
NM_015474.4(SAMHD1):c.766C>T (p.Gln256Ter)
|
|
|
NM_015474.4(SAMHD1):c.779del (p.Ile260fs)
|
|
|
NM_015474.4(SAMHD1):c.811C>T (p.Gln271Ter)
|
|
|
NM_015474.4(SAMHD1):c.848C>G (p.Ser283Ter)
|
|
|
NM_015474.4(SAMHD1):c.855G>A (p.Trp285Ter)
|
|
|
NM_015474.4(SAMHD1):c.861T>A (p.Tyr287Ter)
|
rs752962934
|
|
NM_015474.4(SAMHD1):c.861_862dup (p.Lys288fs)
|
|
|
NM_015474.4(SAMHD1):c.883del (p.Ser295fs)
|
|
|
NM_015474.4(SAMHD1):c.910A>T (p.Lys304Ter)
|
|
|
NM_015474.4(SAMHD1):c.939G>A (p.Trp313Ter)
|
rs2063480012
|
|
NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs)
|
|
|
NM_015474.4(SAMHD1):c.987del (p.Phe329fs)
|
|
|
NM_015600.4(ABHD12):c.-6898_191+7002delinsCC
|
|
|
NM_015602.4(TOR1AIP1):c.11_17del (p.Asp4fs)
|
rs1647734130
|
|
NM_015602.4(TOR1AIP1):c.186del (p.Glu62fs)
|
rs879255612
|
|
NM_015602.4(TOR1AIP1):c.189dup (p.Pro64fs)
|
rs1193188647
|
|
NM_015602.4(TOR1AIP1):c.343C>T (p.Arg115Ter)
|
rs2148468809
|
|
NM_015602.4(TOR1AIP1):c.349C>T (p.Gln117Ter)
|
rs2148468818
|
|
NM_015602.4(TOR1AIP1):c.379del (p.Thr127fs)
|
rs2148468861
|
|
NM_015602.4(TOR1AIP1):c.583C>T (p.Arg195Ter)
|
|
|
NM_015602.4(TOR1AIP1):c.663del (p.Glu222fs)
|
rs1648457474
|
|
NM_015602.4(TOR1AIP1):c.763C>T (p.Gln255Ter)
|
rs1648544786
|
|
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)
|
rs2148480016
|
|
NM_015631.6(TCTN3):c.615del (p.Ser206fs)
|
|
|
NM_015650.4(TRAF3IP1):c.1575+6T>G
|
rs886037897
|
|
NM_015650.4(TRAF3IP1):c.373G>A (p.Val125Met)
|
rs886037898
|
|
NM_015650.4(TRAF3IP1):c.374T>C (p.Val125Ala)
|
rs886037896
|
|
NM_015650.4(TRAF3IP1):c.463C>T (p.Arg155Ter)
|
rs765903345
|
|
NM_015650.4(TRAF3IP1):c.51T>G (p.Ile17Met)
|
rs886037899
|
|
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg)
|
rs1282056614
|
|
NM_015662.3(IFT172):c.2158del (p.Arg720fs)
|
rs587777086
|
|
NM_015662.3(IFT172):c.4428+3A>G
|
rs2148476381
|
|
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln)
|
rs786205855
|
|
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs)
|
rs587777078
|
|
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs)
|
rs770214071
|
|
NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs)
|
rs2121082201
|
|
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs)
|
rs2121081165
|
|
NM_015665.6(AAAS):c.211del (p.His71fs)
|
rs765577880
|
|
NM_015665.6(AAAS):c.250del (p.Trp84fs)
|
rs2136820957
|
|
NM_015665.6(AAAS):c.399+1G>A
|
rs2136811976
|
|
NM_015665.6(AAAS):c.400-2A>G
|
rs1565781382
|
|
NM_015665.6(AAAS):c.688C>T (p.Arg230Ter)
|
rs758057774
|
|
NM_015665.6(AAAS):c.852G>A (p.Trp284Ter)
|
rs1944347921
|
|
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr)
|
rs1450008394
|
|
NM_015665.6(AAAS):c.980dup (p.Ser328fs)
|
rs387906326
|
|
NM_015702.3(MMADHC):c.128_129del (p.His43fs)
|
rs1162948308
|
|
NM_015702.3(MMADHC):c.151dup (p.Ile51fs)
|
|
|
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)
|
rs118204047
|
|
NM_015702.3(MMADHC):c.171G>A (p.Trp57Ter)
|
|
|
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)
|
|
|
NM_015702.3(MMADHC):c.22dup (p.Arg8fs)
|
|
|
NM_015702.3(MMADHC):c.233_248dup (p.His83_Leu84insArgPheTer)
|
|
|
NM_015702.3(MMADHC):c.240_241insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACATAGGTTTT (p.Asp81delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
NM_015702.3(MMADHC):c.24_25del (p.Arg8fs)
|
rs1553454436
|
|
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs)
|
rs1573878695
|
|
NM_015702.3(MMADHC):c.352C>T (p.Gln118Ter)
|
rs2105048127
|
|
NM_015702.3(MMADHC):c.391dup (p.Glu131fs)
|
|
|
NM_015702.3(MMADHC):c.455dup (p.Cys153fs)
|
rs864309743
|
|
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)
|
rs886039425
|
|
NM_015702.3(MMADHC):c.538C>T (p.Gln180Ter)
|
|
|
NM_015702.3(MMADHC):c.544dup (p.Thr182fs)
|
rs1308639482
|
|
NM_015702.3(MMADHC):c.546_547del (p.Lys183fs)
|
|
|
NM_015702.3(MMADHC):c.556_557del (p.Met186fs)
|
rs1682706954
|
|
NM_015702.3(MMADHC):c.566G>A (p.Trp189Ter)
|
|
|
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)
|
rs397509361
|
|
NM_015702.3(MMADHC):c.585_588del (p.Arg197fs)
|
rs2105045491
|
|
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)
|
rs864309742
|
|
NM_015702.3(MMADHC):c.634dup (p.Cys212fs)
|
|
|
NM_015702.3(MMADHC):c.638_642del (p.Tyr213fs)
|
rs2105042265
|
|
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)
|
rs141093638
|
|
NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs)
|
|
|
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)
|
rs2105042238
|
|
NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter)
|
rs2105042210
|
|
NM_015702.3(MMADHC):c.696+3_696+6del
|
rs397509364
|
|
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)
|
rs118204048
|
|
NM_015703.5(RRP7A):c.465G>C (p.Trp155Cys)
|
rs1356719738
|
|
NM_015895.5(GMNN):c.16A>T (p.Lys6Ter)
|
rs864309486
|
|
NM_015895.5(GMNN):c.35_38del (p.Ile12fs)
|
rs864309487
|
|
NM_015895.5(GMNN):c.50A>G (p.Lys17Arg)
|
rs864309488
|
|
NM_015910.7(WDPCP):c.1198del (p.Glu400fs)
|
|
|
NM_015910.7(WDPCP):c.1342del (p.Val448fs)
|
|
|
NM_015910.7(WDPCP):c.1347_1348del (p.Gln451fs)
|
rs1694365826
|
|
NM_015910.7(WDPCP):c.1360G>T (p.Glu454Ter)
|
|
|
NM_015910.7(WDPCP):c.1419_1420del (p.Leu474fs)
|
rs1281918775
|
|
NM_015910.7(WDPCP):c.1727_1728del (p.Arg576fs)
|
|
|
NM_015910.7(WDPCP):c.1751_1773del (p.Tyr584fs)
|
rs2103954534
|
|
NM_015910.7(WDPCP):c.1799del (p.Arg600fs)
|
|
|
NM_015910.7(WDPCP):c.1809_1812+6del
|
rs2103953112
|
|
NM_015910.7(WDPCP):c.1872_1875dup (p.Ala626fs)
|
rs1681413798
|
|
NM_015910.7(WDPCP):c.1910_1913del (p.Gly637fs)
|
rs2104771725
|
|
NM_015910.7(WDPCP):c.2078+1G>T
|
rs1673664656
|
|
NM_015910.7(WDPCP):c.216del (p.Glu72fs)
|
|
|
NM_015910.7(WDPCP):c.340dup (p.Ser114fs)
|
|
|
NM_015910.7(WDPCP):c.512_515del (p.Asp171fs)
|
|
|
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter)
|
rs2105500878
|
|
NM_015910.7(WDPCP):c.679C>T (p.Arg227Ter)
|
|
|
NM_015910.7(WDPCP):c.755G>A (p.Trp252Ter)
|
rs2105466704
|
|
NM_015910.7(WDPCP):c.76-1G>T
|
rs397704728
|
|
NM_015910.7(WDPCP):c.925_931del (p.Asp309fs)
|
|
|
NM_015932.6(POMP):c.334_335del (p.Ile112fs)
|
rs1555257073
|
|
NM_015932.6(POMP):c.340_344dup (p.Glu115fs)
|
rs1555257075
|
|
NM_015932.6(POMP):c.342_348delinsACC (p.Phe114fs)
|
rs1555257076
|
|
NM_015981.4(CAMK2A):c.1429C>T (p.His477Tyr)
|
rs1554119274
|
|
NM_016004.5(IFT52):c.556A>G (p.Thr186Ala)
|
rs1983651325
|
|
NM_016004.5(IFT52):c.695_699delinsCA (p.Ile232_Met233delinsThr)
|
rs1984074001
|
|
NM_016004.5(IFT52):c.878del (p.Leu293fs)
|
rs886037870
|
|
NM_016038.2(SBDS):c.625-1delG
|
rs1792914342
|
|
NM_016038.4(SBDS):c.101dup (p.Asn34fs)
|
|
|
NM_016038.4(SBDS):c.120del (p.Ser41fs)
|
rs113993990
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
NM_016038.4(SBDS):c.18del (p.Thr7fs)
|
rs1584439050
|
|
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys)
|
rs28942099
|
|
NM_016038.4(SBDS):c.258+347_459+223del
|
|
|
NM_016038.4(SBDS):c.297_300del (p.Glu99fs)
|
rs113993994
|
|
NM_016038.4(SBDS):c.460-1G>A
|
rs1792969582
|
|
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr)
|
rs373730800
|
|
NM_016042.4(EXOSC3):c.112del (p.Glu38fs)
|
rs587780333
|
|
NM_016042.4(EXOSC3):c.129del (p.Gly44fs)
|
|
|
NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter)
|
|
|
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)
|
rs886041316
|
|
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)
|
|
|
NM_016042.4(EXOSC3):c.174_183del (p.Arg58fs)
|
|
|
NM_016042.4(EXOSC3):c.180del (p.Ser61fs)
|
|
|
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)
|
|
|
NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)
|
|
|
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
|
|
|
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)
|
rs672601331
|
|
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)
|
|
|
NM_016042.4(EXOSC3):c.301del (p.Trp101fs)
|
|
|
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
|
|
|
NM_016042.4(EXOSC3):c.382dup (p.Ile128fs)
|
rs2118980242
|
|
NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)
|
|
|
NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile)
|
rs1198691735
|
|
NM_016042.4(EXOSC3):c.404_407del (p.Gly135fs)
|
rs2118980158
|
|
NM_016042.4(EXOSC3):c.422del (p.Leu141fs)
|
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.551del (p.Cys184fs)
|
|
|
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
|
|
|
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys)
|
rs730882145
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)
|
|
|
NM_016058.5(TPRKB):c.407T>C (p.Leu136Pro)
|
rs1553433412
|
|
NM_016098.4(MPC1):c.236T>A (p.Leu79His)
|
rs387907238
|
|
NM_016098.4(MPC1):c.289C>T (p.Arg97Trp)
|
rs387907237
|
|
NM_016100.5(NAA20):c.160A>G (p.Met54Val)
|
rs2146464332
|
|
NM_016100.5(NAA20):c.239C>T (p.Ala80Val)
|
rs768029717
|
|
NM_016122.3(CEP83):c.1060_1063del (p.Asp354fs)
|
rs1276979881
|
|
NM_016122.3(CEP83):c.1067_1068insTA (p.Glu356fs)
|
rs1064794347
|
|
NM_016122.3(CEP83):c.1131dup (p.Arg378fs)
|
rs2061113374
|
|
NM_016122.3(CEP83):c.1165C>T (p.Gln389Ter)
|
rs2061111812
|
|
NM_016122.3(CEP83):c.1170del (p.Lys390fs)
|
|
|
NM_016122.3(CEP83):c.1183C>T (p.Gln395Ter)
|
|
|
NM_016122.3(CEP83):c.1234_1237del (p.Lys412fs)
|
rs780500128
|
|
NM_016122.3(CEP83):c.1311_1315del (p.Glu437fs)
|
rs1187876547
|
|
NM_016122.3(CEP83):c.1327G>T (p.Glu443Ter)
|
|
|
NM_016122.3(CEP83):c.1462_1465del (p.Ser488fs)
|
rs2136515432
|
|
NM_016122.3(CEP83):c.1530C>A (p.Cys510Ter)
|
rs587777488
|
|
NM_016122.3(CEP83):c.1532G>C (p.Arg511Pro)
|
rs587777487
|
|
NM_016122.3(CEP83):c.1542_1558del (p.Arg514fs)
|
rs2136514301
|
|
NM_016122.3(CEP83):c.1580del (p.Thr527fs)
|
|
|
NM_016122.3(CEP83):c.1621A>T (p.Lys541Ter)
|
rs2136488957
|
|
NM_016122.3(CEP83):c.1684C>T (p.Arg562Ter)
|
rs906852829
|
|
NM_016122.3(CEP83):c.1729A>T (p.Lys577Ter)
|
|
|
NM_016122.3(CEP83):c.1948C>T (p.Gln650Ter)
|
|
|
NM_016122.3(CEP83):c.2007del (p.Glu669fs)
|
rs922686745
|
|
NM_016122.3(CEP83):c.2072AAC[1] (p.Gln692del)
|
rs879255576
|
|
NM_016122.3(CEP83):c.335_352del (p.Pro112_Leu117del)
|
rs879255575
|
|
NM_016122.3(CEP83):c.499G>T (p.Glu167Ter)
|
rs2137575733
|
|
NM_016122.3(CEP83):c.606del (p.Leu203fs)
|
rs2137174483
|
|
NM_016122.3(CEP83):c.940G>T (p.Glu314Ter)
|
|
|
NM_016138.5(COQ7):c.160C>T (p.Arg54Trp)
|
|
|
NM_016138.5(COQ7):c.1A>G (p.Met1Val)
|
|
|
NM_016138.5(COQ7):c.253-2A>T
|
|
|
NM_016138.5(COQ7):c.467T>A (p.Leu156Gln)
|
|
|
NM_016138.5(COQ7):c.467T>G (p.Leu156Arg)
|
|
|
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter)
|
rs749597091
|
|
NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter)
|
rs749597091
|
|
NM_016194.4(GNB5):c.1160G>C (p.Trp387Ser)
|
rs2141181367
|
|
NM_016194.4(GNB5):c.239-2A>C
|
rs1379641378
|
|
NM_016194.4(GNB5):c.348_352del (p.Asp116fs)
|
rs1085307675
|
|
NM_016194.4(GNB5):c.368C>A (p.Ser123Ter)
|
|
|
NM_016194.4(GNB5):c.375+1G>T
|
rs886041055
|
|
NM_016194.4(GNB5):c.375G>A (p.Gln125=)
|
rs886041054
|
|
NM_016194.4(GNB5):c.458G>A (p.Cys153Tyr)
|
|
|
NM_016194.4(GNB5):c.481del (p.Ala161fs)
|
|
|
NM_016194.4(GNB5):c.863G>A (p.Arg288Gln)
|
|
|
NM_016219.5(MAN1B1):c.1075G>T (p.Gly359Ter)
|
|
|
NM_016219.5(MAN1B1):c.1225T>C (p.Ser409Pro)
|
rs1158130828
|
|
NM_016219.5(MAN1B1):c.1228del (p.Arg410fs)
|
|
|
NM_016219.5(MAN1B1):c.1236_1237del (p.Gly413_Asp414insTer)
|
|
|
NM_016219.5(MAN1B1):c.1241del (p.Asp414fs)
|
|
|
NM_016219.5(MAN1B1):c.1276_1277del (p.Gln426fs)
|
rs794729645
|
|
NM_016219.5(MAN1B1):c.1311del (p.Leu438fs)
|
rs747262065
|
|
NM_016219.5(MAN1B1):c.1397_1398del (p.Tyr465_Tyr466insTer)
|
|
|
NM_016219.5(MAN1B1):c.1418G>A (p.Trp473Ter)
|
rs1564311909
|
|
NM_016219.5(MAN1B1):c.1444C>T (p.Gln482Ter)
|
rs1831100789
|
|
NM_016219.5(MAN1B1):c.1445+2_1445+5del
|
rs1831100970
|
|
NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter)
|
rs1377102705
|
|
NM_016219.5(MAN1B1):c.242T>A (p.Leu81Ter)
|
rs2130986124
|
|
NM_016219.5(MAN1B1):c.465+1462_620+529del
|
|
|
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)
|
rs797045688
|
|
NM_016219.5(MAN1B1):c.621-2A>G
|
rs937318545
|
|
NM_016219.5(MAN1B1):c.624G>A (p.Trp208Ter)
|
|
|
NM_016219.5(MAN1B1):c.761_764del (p.Ile254fs)
|
rs1564281411
|
|
NM_016219.5(MAN1B1):c.772_775del (p.Leu258fs)
|
|
|
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs)
|
rs750130520
|
|
NM_016239.3(MYO15A):c.[373_374delCG];[8183G>A]
|
|
|
NM_016239.4(MYO15A):c.10177C>T (p.Gln3393Ter)
|
rs2142429182
|
|
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del)
|
rs760069953
|
|
NM_016239.4(MYO15A):c.10252TTC[2] (p.Phe3420del)
|
rs1174503300
|
|
NM_016239.4(MYO15A):c.10350+2T>G
|
rs760148486
|
|
NM_016239.4(MYO15A):c.10419_10423del (p.Ser3474fs)
|
rs2142436425
|
|
NM_016239.4(MYO15A):c.10425C>A (p.Tyr3475Ter)
|
|
|
NM_016239.4(MYO15A):c.10538_10544del (p.Leu3513fs)
|
rs2142451116
|
|
NM_016239.4(MYO15A):c.10572dup (p.Ser3525fs)
|
rs1057519607
|
|
NM_016239.4(MYO15A):c.10585del (p.Leu3529fs)
|
rs2047052213
|
|
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)
|
rs769260536
|
|
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs)
|
rs1567620939
|
|
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs)
|
rs772536599
|
|
NM_016239.4(MYO15A):c.1201del (p.Tyr401fs)
|
rs2142244823
|
|
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter)
|
rs1597752877
|
|
NM_016239.4(MYO15A):c.1657del (p.Arg553fs)
|
|
|
NM_016239.4(MYO15A):c.1661del (p.Gly554fs)
|
rs1245338270
|
|
NM_016239.4(MYO15A):c.201_202del (p.Gln68fs)
|
rs2142236482
|
|
NM_016239.4(MYO15A):c.212del (p.Lys71fs)
|
rs2142236554
|
|
NM_016239.4(MYO15A):c.2266_2272dup (p.Pro758fs)
|
rs2142253567
|
|
NM_016239.4(MYO15A):c.2958del (p.Arg987fs)
|
rs2142258855
|
|
NM_016239.4(MYO15A):c.3123del (p.Lys1042fs)
|
rs769230097
|
|
NM_016239.4(MYO15A):c.3141del (p.Lys1048fs)
|
rs1317243760
|
|
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer)
|
rs794729637
|
|
NM_016239.4(MYO15A):c.3313G>T (p.Glu1105Ter)
|
rs121908971
|
|
NM_016239.4(MYO15A):c.3336del (p.Arg1113fs)
|
rs769884586
|
|
NM_016239.4(MYO15A):c.343del (p.Arg115fs)
|
|
|
NM_016239.4(MYO15A):c.3474G>A (p.Trp1158Ter)
|
|
|
NM_016239.4(MYO15A):c.3685C>T (p.Gln1229Ter)
|
rs121908968
|
|
NM_016239.4(MYO15A):c.3693-2A>G
|
rs2142274411
|
|
NM_016239.4(MYO15A):c.3700C>T (p.Gln1234Ter)
|
rs2142274433
|
|
NM_016239.4(MYO15A):c.373_374del (p.Arg125fs)
|
rs878853239
|
|
NM_016239.4(MYO15A):c.3829C>T (p.Gln1277Ter)
|
rs2142280018
|
|
NM_016239.4(MYO15A):c.3944G>A (p.Gly1315Glu)
|
rs878854410
|
|
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys)
|
rs1060499798
|
|
NM_016239.4(MYO15A):c.439G>T (p.Glu147Ter)
|
|
|
NM_016239.4(MYO15A):c.4441T>C (p.Ser1481Pro)
|
rs758896141
|
|
NM_016239.4(MYO15A):c.4519C>T (p.Arg1507Ter)
|
rs549138385
|
|
NM_016239.4(MYO15A):c.4522G>T (p.Glu1508Ter)
|
rs1567638693
|
|
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter)
|
rs779077039
|
|
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter)
|
rs1209665716
|
|
NM_016239.4(MYO15A):c.4571dup (p.Lys1525fs)
|
rs2046256329
|
|
NM_016239.4(MYO15A):c.4596+1G>A
|
|
|
NM_016239.4(MYO15A):c.4596+2_4596+3del
|
rs2142315894
|
|
NM_016239.4(MYO15A):c.4609G>T (p.Glu1537Ter)
|
rs1555543432
|
|
NM_016239.4(MYO15A):c.477G>A (p.Trp159Ter)
|
rs1567618790
|
|
NM_016239.4(MYO15A):c.4780G>C (p.Asp1594His)
|
rs878854412
|
|
NM_016239.4(MYO15A):c.4879G>T (p.Glu1627Ter)
|
rs1597787868
|
|
NM_016239.4(MYO15A):c.488C>A (p.Ser163Ter)
|
rs773729617
|
|
NM_016239.4(MYO15A):c.5001del (p.Gln1669fs)
|
rs2142326062
|
|
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter)
|
rs1567641234
|
|
NM_016239.4(MYO15A):c.5134-1G>A
|
rs2142330705
|
|
NM_016239.4(MYO15A):c.5193_5194insACAG (p.Val1732fs)
|
rs2142330998
|
|
NM_016239.4(MYO15A):c.5335del (p.Leu1779fs)
|
rs878854413
|
|
NM_016239.4(MYO15A):c.5492G>T (p.Gly1831Val)
|
rs121908972
|
|
NM_016239.4(MYO15A):c.5531+1G>A
|
rs727503309
|
|
NM_016239.4(MYO15A):c.5673C>G (p.Tyr1891Ter)
|
rs2046392476
|
|
NM_016239.4(MYO15A):c.5722_5725del (p.Thr1908fs)
|
rs2142341338
|
|
NM_016239.4(MYO15A):c.5809C>G (p.Arg1937Gly)
|
rs749465098
|
|
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys)
|
rs749465098
|
|
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter)
|
rs2142343642
|
|
NM_016239.4(MYO15A):c.5964+3G>A
|
rs530975087
|
|
NM_016239.4(MYO15A):c.596C>G (p.Ser199Ter)
|
rs2142240125
|
|
NM_016239.4(MYO15A):c.605C>A (p.Pro202His)
|
rs1229200252
|
|
NM_016239.4(MYO15A):c.6146C>A (p.Pro2049His)
|
rs878854414
|
|
NM_016239.4(MYO15A):c.6177+1G>T
|
rs751142446
|
|
NM_016239.4(MYO15A):c.6178-2A>G
|
rs878854415
|
|
NM_016239.4(MYO15A):c.6194del (p.Met2065fs)
|
|
|
NM_016239.4(MYO15A):c.625G>T (p.Glu209Ter)
|
rs571594379
|
|
NM_016239.4(MYO15A):c.6331A>T (p.Asn2111Tyr)
|
rs121908966
|
|
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe)
|
rs121908965
|
|
NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met)
|
rs377385081
|
|
NM_016239.4(MYO15A):c.6503T>G (p.Leu2168Arg)
|
rs1567648703
|
|
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter)
|
rs779445819
|
|
NM_016239.4(MYO15A):c.6599C>A (p.Ser2200Ter)
|
|
|
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter)
|
rs1567649945
|
|
NM_016239.4(MYO15A):c.6708C>A (p.Cys2236Ter)
|
|
|
NM_016239.4(MYO15A):c.6898A>T (p.Lys2300Ter)
|
rs2142363296
|
|
NM_016239.4(MYO15A):c.6944del (p.Gly2315fs)
|
rs1057519604
|
|
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)
|
rs780170125
|
|
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr)
|
rs878853227
|
|
NM_016239.4(MYO15A):c.742C>G (p.Arg248Gly)
|
rs878854409
|
|
NM_016239.4(MYO15A):c.7523del (p.Pro2508fs)
|
rs2142369409
|
|
NM_016239.4(MYO15A):c.7654+1G>A
|
rs1338603862
|
|
NM_016239.4(MYO15A):c.7698_7699del (p.Glu2567fs)
|
rs2142370409
|
|
NM_016239.4(MYO15A):c.7745_8224+177delinsCTCCCCGGAACGGCTGCTGGTAC
|
|
|
NM_016239.4(MYO15A):c.7801A>T (p.Lys2601Ter)
|
rs121908967
|
|
NM_016239.4(MYO15A):c.8130dup (p.Asp2711Ter)
|
rs2142377997
|
|
NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His)
|
rs121908969
|
|
NM_016239.4(MYO15A):c.8152del (p.Leu2718fs)
|
rs2142379446
|
|
NM_016239.4(MYO15A):c.8324G>T (p.Arg2775Leu)
|
rs773476384
|
|
NM_016239.4(MYO15A):c.8362C>T (p.Gln2788Ter)
|
rs2142381989
|
|
NM_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn)
|
rs878853238
|
|
NM_016239.4(MYO15A):c.8524G>T (p.Glu2842Ter)
|
rs766250454
|
|
NM_016239.4(MYO15A):c.8583del (p.Phe2861fs)
|
rs2142384617
|
|
NM_016239.4(MYO15A):c.8713+3_8713+6del
|
rs2142386632
|
|
NM_016239.4(MYO15A):c.8730C>A (p.Cys2910Ter)
|
rs776201118
|
|
NM_016239.4(MYO15A):c.8746GTG[1] (p.Val2917del)
|
rs2142387013
|
|
NM_016239.4(MYO15A):c.8828dup (p.Ser2945fs)
|
rs751628774
|
|
NM_016239.4(MYO15A):c.8831del (p.Pro2944fs)
|
|
|
NM_016239.4(MYO15A):c.8897_8900dup (p.Ala2968fs)
|
rs2046704290
|
|
NM_016239.4(MYO15A):c.8968-1G>C
|
rs746051220
|
|
NM_016239.4(MYO15A):c.8976dup (p.Val2993fs)
|
rs2142391112
|
|
NM_016239.4(MYO15A):c.900del (p.Pro301fs)
|
rs2142242418
|
|
NM_016239.4(MYO15A):c.9083+6T>A
|
rs1555547112
|
|
NM_016239.4(MYO15A):c.9229+2T>C
|
rs1057519606
|
|
NM_016239.4(MYO15A):c.9358C>T (p.Gln3120Ter)
|
rs774255124
|
|
NM_016239.4(MYO15A):c.9408G>C (p.Trp3136Cys)
|
|
|
NM_016239.4(MYO15A):c.9518-2A>G
|
|
|
NM_016239.4(MYO15A):c.9534C>A (p.Cys3178Ter)
|
rs2142402323
|
|
NM_016239.4(MYO15A):c.9690+1G>A
|
rs2142404134
|
|
NM_016239.4(MYO15A):c.9787+1G>A
|
rs769937488
|
|
NM_016239.4(MYO15A):c.9941del (p.Tyr3314fs)
|
rs2142413310
|
|
NM_016239.4(MYO15A):c.9942_9943delinsTGTGTG (p.Asn3315delinsValTer)
|
rs2142413318
|
|
NM_016239.4(MYO15A):c.9958_9961del (p.Asp3320fs)
|
rs1567664131
|
|
NM_016239.4(MYO15A):c.[1185dup];[4879G>T]
|
|
|
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg)
|
rs797045036
|
|
NM_016302.4(CRBN):c.129dup (p.Pro44fs)
|
rs1707782133
|
|
NM_016302.4(CRBN):c.835+1G>A
|
rs1226252969
|
|
NM_016356.5(DCDC2):c.123_124del (p.Ser42fs)
|
rs757704417
|
|
NM_016356.5(DCDC2):c.1271A>C (p.Gln424Pro)
|
rs794729665
|
|
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)
|
rs904520404
|
|
NM_016356.5(DCDC2):c.529dup (p.Ile177fs)
|
rs904944428
|
|
NM_016356.5(DCDC2):c.557+1G>T
|
rs763299947
|
|
NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter)
|
rs730880299
|
|
NM_016356.5(DCDC2):c.705-2A>G
|
|
|
NM_016356.5(DCDC2):c.970dup (p.Ala324fs)
|
rs774115675
|
|
NM_016373.4(WWOX):c.1035del (p.Arg346fs)
|
|
|
NM_016373.4(WWOX):c.1043del (p.Phe348fs)
|
rs1064795117
|
|
NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter)
|
rs770155582
|
|
NM_016373.4(WWOX):c.107+1G>A
|
rs1300924648
|
|
NM_016373.4(WWOX):c.107+1_107+2delinsTA
|
|
|
NM_016373.4(WWOX):c.108_112dup (p.Thr38fs)
|
|
|
NM_016373.4(WWOX):c.1110_1119del (p.Leu371fs)
|
rs2051756247
|
|
NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg)
|
rs587777127
|
|
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter)
|
rs587777127
|
|
NM_016373.4(WWOX):c.127C>T (p.Gln43Ter)
|
rs1284883505
|
|
NM_016373.4(WWOX):c.131G>A (p.Trp44Ter)
|
rs1057517846
|
|
NM_016373.4(WWOX):c.139C>A (p.Pro47Thr)
|
rs587777128
|
|
NM_016373.4(WWOX):c.173-1G>C
|
|
|
NM_016373.4(WWOX):c.173-1G>T
|
|
|
NM_016373.4(WWOX):c.1A>C (p.Met1Leu)
|
|
|
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter)
|
rs201008667
|
|
NM_016373.4(WWOX):c.255C>G (p.Tyr85Ter)
|
rs990150249
|
|
NM_016373.4(WWOX):c.2T>C (p.Met1Thr)
|
|
|
NM_016373.4(WWOX):c.321C>G (p.Tyr107Ter)
|
rs373306276
|
|
NM_016373.4(WWOX):c.333del (p.Thr112fs)
|
rs2151674791
|
|
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg)
|
rs1567567249
|
|
NM_016373.4(WWOX):c.409+1G>C
|
rs1060502727
|
|
NM_016373.4(WWOX):c.427_478dup (p.Arg160fs)
|
|
|
NM_016373.4(WWOX):c.46_49del (p.Asp16fs)
|
rs730880291
|
|
NM_016373.4(WWOX):c.517-1G>T
|
rs867163041
|
|
NM_016373.4(WWOX):c.552dup (p.Ala185fs)
|
|
|
NM_016373.4(WWOX):c.583G>T (p.Glu195Ter)
|
rs1567542020
|
|
NM_016373.4(WWOX):c.606-1G>A
|
rs730882215
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
NM_016373.4(WWOX):c.705dup (p.His236fs)
|
rs1597216056
|
|
NM_016373.4(WWOX):c.779C>G (p.Ser260Ter)
|
rs878855021
|
|
NM_016373.4(WWOX):c.854dup (p.Asn285fs)
|
rs1394607357
|
|
NM_016373.4(WWOX):c.863G>A (p.Trp288Ter)
|
|
|
NM_016373.4(WWOX):c.918del (p.Glu306fs)
|
rs1057518795
|
|
NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr)
|
rs1891344853
|
|
NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln)
|
rs869312752
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs)
|
rs771224190
|
|
NM_016464.5(TMEM138):c.306dup (p.Arg103fs)
|
|
|
NM_016464.5(TMEM138):c.307del (p.Arg103fs)
|
|
|
NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)
|
|
|
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr)
|
rs387907134
|
|
NM_016464.5(TMEM138):c.377-3C>G
|
rs774110963
|
|
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val)
|
rs387907133
|
|
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)
|
rs387907135
|
|
NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer)
|
rs2135153244
|
|
NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met)
|
rs546968533
|
|
NM_016529.6(ATP8A2):c.1272T>G (p.Tyr424Ter)
|
|
|
NM_016529.6(ATP8A2):c.1339G>A (p.Gly447Arg)
|
|
|
NM_016529.6(ATP8A2):c.1580-18C>G
|
|
|
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)
|
rs1566306570
|
|
NM_016529.6(ATP8A2):c.2212-1G>C
|
rs2137911082
|
|
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs)
|
rs1593326999
|
|
NM_016529.6(ATP8A2):c.3183+1G>A
|
rs1952385477
|
|
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs)
|
rs2038491713
|
|
NM_016529.6(ATP8A2):c.709del (p.Thr237fs)
|
rs2137994737
|
|
NM_016614.3(TDP2):c.413_414delinsAA (p.Ser138Ter)
|
rs879255601
|
|
NM_016614.3(TDP2):c.650del (p.Gly217fs)
|
rs1778000792
|
|
NM_016614.3(TDP2):c.949C>T (p.Arg317Ter)
|
rs142438588
|
|
NM_016929.5(CLIC5):c.96T>A (p.Cys32Ter)
|
rs606231308
|
|
NM_016929.5:c.[224T>C];[63+1G>A]
|
|
|
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs)
|
rs193302865
|
|
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr)
|
rs193302868
|
|
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys)
|
rs119489101
|
|
NM_016938.5(EFEMP2):c.290dup (p.Pro98fs)
|
|
|
NM_016938.5(EFEMP2):c.338_339del (p.Gly112_Tyr113insTer)
|
|
|
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val)
|
rs193302869
|
|
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg)
|
rs1859949436
|
|
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys)
|
rs761656636
|
|
NM_016938.5(EFEMP2):c.577del (p.Gln193fs)
|
rs193302870
|
|
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys)
|
rs397514683
|
|
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)
|
rs193302866
|
|
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)
|
rs119489102
|
|
NM_016938.5(EFEMP2):c.859dup (p.Cys287fs)
|
|
|
NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter)
|
rs1044449024
|
|
NM_016938.5(EFEMP2):c.917dup (p.Tyr307fs)
|
|
|
NM_016938.5(EFEMP2):c.919_952dup (p.Pro318fs)
|
rs2134747667
|
|
NM_017414.4(USP18):c.1073+1G>A
|
rs1602534094
|
|
NM_017414.4(USP18):c.652C>T (p.Gln218Ter)
|
rs1085307118
|
|
NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs)
|
rs760866131
|
|
NM_017433.5(MYO3A):c.1684A>T (p.Arg562Ter)
|
rs1564544199
|
|
NM_017433.5(MYO3A):c.1732G>T (p.Glu578Ter)
|
rs1564544348
|
|
NM_017433.5(MYO3A):c.1777-12G>A
|
rs1564568849
|
|
NM_017433.5(MYO3A):c.3129T>G (p.Tyr1043Ter)
|
rs193919333
|
|
NM_017433.5(MYO3A):c.3737_3738del (p.Glu1246fs)
|
rs2132036795
|
|
NM_017433.5(MYO3A):c.3948dup (p.Cys1317fs)
|
rs1589079163
|
|
NM_017433.5(MYO3A):c.4587-1G>A
|
rs1311980539
|
|
NM_017433.5(MYO3A):c.716T>C (p.Leu239Pro)
|
|
|
NM_017433.5(MYO3A):c.732-2A>G
|
rs1023746725
|
|
NM_017613.4(DONSON):c.607-36G>A
|
rs752810960
|
|
NM_017613.4(DONSON):c.631C>T (p.Arg211Cys)
|
rs774052186
|
|
NM_017686.4(GDAP2):c.1305dup (p.Ser436fs)
|
rs1557794465
|
|
NM_017697.4(ESRP1):c.665_683del (p.Asp222fs)
|
rs1554577339
|
|
NM_017697.4(ESRP1):c.775C>G (p.Leu259Val)
|
rs1554577402
|
|
NM_017721.5(CC2D1A):c.1223-294_1642-220del
|
|
|
NM_017721.5(CC2D1A):c.1764+1G>C
|
rs2145350143
|
|
NM_017721.5(CC2D1A):c.2693del (p.Gly898fs)
|
rs1423002835
|
|
NM_017721.5(CC2D1A):c.748+1G>T
|
rs876657679
|
|
NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs)
|
rs1571659306
|
|
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)
|
rs751254522
|
|
NM_017739.4(POMGNT1):c.1043dup (p.Ala349fs)
|
rs2148192725
|
|
NM_017739.4(POMGNT1):c.1055_1059del (p.Gly352fs)
|
|
|
NM_017739.4(POMGNT1):c.1080del (p.Ile361fs)
|
rs2148192392
|
|
NM_017739.4(POMGNT1):c.10del (p.Trp4fs)
|
rs1571672866
|
|
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs)
|
rs1553163360
|
|
NM_017739.4(POMGNT1):c.1153G>T (p.Glu385Ter)
|
rs2148189653
|
|
NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter)
|
rs1657864516
|
|
NM_017739.4(POMGNT1):c.1285-2A>G
|
rs386834012
|
|
NM_017739.4(POMGNT1):c.1285-2A>T
|
rs386834012
|
|
NM_017739.4(POMGNT1):c.1335del (p.Met446fs)
|
rs1553163206
|
|
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs)
|
rs386834015
|
|
NM_017739.4(POMGNT1):c.1352G>A (p.Trp451Ter)
|
|
|
NM_017739.4(POMGNT1):c.1365del (p.Arg455fs)
|
rs2148185606
|
|
NM_017739.4(POMGNT1):c.1374C>G (p.Tyr458Ter)
|
|
|
NM_017739.4(POMGNT1):c.1411A>T (p.Lys471Ter)
|
|
|
NM_017739.4(POMGNT1):c.1436del (p.Met479fs)
|
|
|
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)
|
rs727504103
|
|
NM_017739.4(POMGNT1):c.1465G>T (p.Glu489Ter)
|
|
|
NM_017739.4(POMGNT1):c.1539+1G>T
|
rs138642840
|
|
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs)
|
rs1434252108
|
|
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs)
|
rs1176001640
|
|
NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)
|
|
|
NM_017739.4(POMGNT1):c.1615_1616del (p.Glu539fs)
|
|
|
NM_017739.4(POMGNT1):c.1623T>G (p.Tyr541Ter)
|
rs746196856
|
|
NM_017739.4(POMGNT1):c.1672dup (p.Ser558fs)
|
|
|
NM_017739.4(POMGNT1):c.1677del (p.Asn560fs)
|
|
|
NM_017739.4(POMGNT1):c.1686dup (p.Glu563Ter)
|
rs2148167494
|
|
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)
|
rs1057516903
|
|
NM_017739.4(POMGNT1):c.1725_1726del (p.Val576fs)
|
|
|
NM_017739.4(POMGNT1):c.1759_1763del (p.Phe587fs)
|
rs1302430730
|
|
NM_017739.4(POMGNT1):c.1780del (p.Ala594fs)
|
|
|
NM_017739.4(POMGNT1):c.1788C>A (p.Cys596Ter)
|
rs376973640
|
|
NM_017739.4(POMGNT1):c.1812del (p.Arg605fs)
|
|
|
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)
|
rs267606962
|
|
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)
|
rs267606962
|
|
NM_017739.4(POMGNT1):c.1829del (p.Gly610fs)
|
|
|
NM_017739.4(POMGNT1):c.1835G>A (p.Trp612Ter)
|
|
|
NM_017739.4(POMGNT1):c.1841T>A (p.Leu614Ter)
|
rs1364587778
|
|
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)
|
rs1553162663
|
|
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs)
|
rs1057517153
|
|
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)
|
rs386834022
|
|
NM_017739.4(POMGNT1):c.1895+1G>A
|
rs386834024
|
|
NM_017739.4(POMGNT1):c.1895+1G>C
|
rs386834024
|
|
NM_017739.4(POMGNT1):c.1A>G (p.Met1Val)
|
|
|
NM_017739.4(POMGNT1):c.20del (p.Ser7fs)
|
|
|
NM_017739.4(POMGNT1):c.263del (p.Pro88fs)
|
rs1557677980
|
|
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)
|
rs749603354
|
|
NM_017739.4(POMGNT1):c.351del (p.Thr118fs)
|
rs386834028
|
|
NM_017739.4(POMGNT1):c.36del (p.Phe13fs)
|
rs1658363329
|
|
NM_017739.4(POMGNT1):c.389dup (p.Ile131fs)
|
|
|
NM_017739.4(POMGNT1):c.390del (p.Ile131fs)
|
|
|
NM_017739.4(POMGNT1):c.3G>A (p.Met1Ile)
|
|
|
NM_017739.4(POMGNT1):c.426del (p.His142fs)
|
|
|
NM_017739.4(POMGNT1):c.447del (p.Phe149fs)
|
rs386834029
|
|
NM_017739.4(POMGNT1):c.478del (p.Met160fs)
|
rs1057517355
|
|
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)
|
rs1424631447
|
|
NM_017739.4(POMGNT1):c.538G>T (p.Glu180Ter)
|
|
|
NM_017739.4(POMGNT1):c.563_564del (p.Thr188fs)
|
rs757322014
|
|
NM_017739.4(POMGNT1):c.564_576del (p.Thr188_Ala189insTer)
|
rs2148205473
|
|
NM_017739.4(POMGNT1):c.586del (p.Leu196fs)
|
|
|
NM_017739.4(POMGNT1):c.593del (p.Ser198fs)
|
rs386834031
|
|
NM_017739.4(POMGNT1):c.595C>T (p.Gln199Ter)
|
rs908815575
|
|
NM_017739.4(POMGNT1):c.603_618delinsTCCCTTCAGATTCCTGA (p.Ala203fs)
|
|
|
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter)
|
rs1156647434
|
|
NM_017739.4(POMGNT1):c.699del (p.Trp234fs)
|
|
|
NM_017739.4(POMGNT1):c.727_728del (p.Asp243fs)
|
|
|
NM_017739.4(POMGNT1):c.75G>A (p.Trp25Ter)
|
rs1264635358
|
|
NM_017739.4(POMGNT1):c.75del (p.Thr24_Trp25insTer)
|
rs2148222613
|
|
NM_017739.4(POMGNT1):c.87_90dup (p.Asn31fs)
|
|
|
NM_017739.4(POMGNT1):c.94C>T (p.Gln32Ter)
|
|
|
NM_017739.4(POMGNT1):c.964_965del (p.Leu322fs)
|
|
|
NM_017739.4(POMGNT1):c.990_991insAA (p.Gln331fs)
|
|
|
NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter)
|
rs1557673817
|
|
NM_017755.6(NSUN2):c.1020del (p.Gly341fs)
|
rs1579368865
|
|
NM_017755.6(NSUN2):c.1114C>T (p.Gln372Ter)
|
rs387907191
|
|
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)
|
rs1377452635
|
|
NM_017755.6(NSUN2):c.538-11T>G
|
rs2126499522
|
|
NM_017755.6(NSUN2):c.538-1G>C
|
rs1560982564
|
|
NM_017755.6(NSUN2):c.679C>T (p.Gln227Ter)
|
rs387907190
|
|
NM_017755.6(NSUN2):c.953A>C (p.Tyr318Ser)
|
|
|
NM_017755.6(NSUN2):c.97-1G>C
|
|
|
NM_017777.4(MKS1):c.1112_1114del (p.Phe371del)
|
rs587777804
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)
|
rs730882120
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.1491-2A>G
|
rs886038203
|
|
NM_017777.4(MKS1):c.1588+1G>T
|
rs886038204
|
|
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer)
|
rs386834047
|
|
NM_017777.4(MKS1):c.417+1G>A
|
rs756368560
|
|
NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe)
|
rs1555331969
|
|
NM_017807.4(OSGEP):c.839G>A (p.Arg280His)
|
rs144732839
|
|
NM_017825.3(ADPRS):c.1000C>T (p.Gln334Ter)
|
rs1557734377
|
|
NM_017825.3(ADPRS):c.100G>A (p.Asp34Asn)
|
rs1557732234
|
|
NM_017825.3(ADPRS):c.146del (p.Thr49fs)
|
|
|
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro)
|
rs1557733311
|
|
NM_017825.3(ADPRS):c.292del (p.Val98fs)
|
rs1557733367
|
|
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter)
|
rs368433666
|
|
NM_017825.3(ADPRS):c.414_418del (p.Ala139fs)
|
rs1557733597
|
|
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu)
|
rs200626873
|
|
NM_017838.4(NHP2):c.376G>A (p.Val126Met)
|
rs121908090
|
|
NM_017838.4(NHP2):c.415T>C (p.Tyr139His)
|
rs121908089
|
|
NM_017838.4(NHP2):c.460T>A (p.Ter154Arg)
|
rs121908091
|
|
NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys)
|
rs866266558
|
|
NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter)
|
rs2125577893
|
|
NM_017875.4(SLC25A38):c.207_214del (p.Met70fs)
|
rs2125578591
|
|
NM_017875.4(SLC25A38):c.227_236del (p.Lys76fs)
|
rs2125578633
|
|
NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter)
|
rs2125578710
|
|
NM_017875.4(SLC25A38):c.276+1G>A
|
rs2125578753
|
|
NM_017875.4(SLC25A38):c.276+1G>T
|
rs2125578753
|
|
NM_017875.4(SLC25A38):c.277-1G>A
|
rs869312029
|
|
NM_017875.4(SLC25A38):c.281T>A (p.Ile94Asn)
|
rs762067787
|
|
NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu)
|
rs2125579714
|
|
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs)
|
rs869320719
|
|
NM_017875.4(SLC25A38):c.324_330del (p.Leu108_Tyr109insTer)
|
rs2125579746
|
|
NM_017875.4(SLC25A38):c.336_346del (p.Lys112fs)
|
rs1301033567
|
|
NM_017875.4(SLC25A38):c.362del (p.Pro121fs)
|
rs2125579866
|
|
NM_017875.4(SLC25A38):c.388G>A (p.Gly130Arg)
|
rs2125579946
|
|
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys)
|
rs1293528130
|
|
NM_017875.4(SLC25A38):c.401G>A (p.Arg134His)
|
rs2041767822
|
|
NM_017875.4(SLC25A38):c.409dup (p.Ala137fs)
|
rs2041767936
|
|
NM_017875.4(SLC25A38):c.429_431delinsAG (p.Ile144fs)
|
rs2125580030
|
|
NM_017875.4(SLC25A38):c.440T>A (p.Ile147Asn)
|
rs2041768572
|
|
NM_017875.4(SLC25A38):c.457-1G>T
|
rs1448237170
|
|
NM_017875.4(SLC25A38):c.469G>C (p.Gly157Arg)
|
rs772425489
|
|
NM_017875.4(SLC25A38):c.475del (p.Glu159fs)
|
rs2041773742
|
|
NM_017875.4(SLC25A38):c.480dup (p.Ile161fs)
|
rs2125580393
|
|
NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln)
|
rs121918331
|
|
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)
|
rs121918331
|
|
NM_017875.4(SLC25A38):c.562G>C (p.Asp188His)
|
rs2125580560
|
|
NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg)
|
rs2125580580
|
|
NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro)
|
rs2125580600
|
|
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His)
|
rs146864395
|
|
NM_017875.4(SLC25A38):c.626-2A>T
|
rs2125582750
|
|
NM_017875.4(SLC25A38):c.669_682del (p.Cys223fs)
|
rs781372292
|
|
NM_017875.4(SLC25A38):c.672delinsTT (p.Ile225fs)
|
rs2125582823
|
|
NM_017875.4(SLC25A38):c.689T>C (p.Leu230Pro)
|
rs2125582841
|
|
NM_017875.4(SLC25A38):c.70-2A>C
|
rs1233124208
|
|
NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter)
|
rs121918332
|
|
NM_017875.4(SLC25A38):c.792+5G>C
|
rs2125582986
|
|
NM_017875.4(SLC25A38):c.809dup (p.Phe271fs)
|
rs2125584589
|
|
NM_017875.4(SLC25A38):c.832C>G (p.Arg278Gly)
|
rs147431446
|
|
NM_017875.4(SLC25A38):c.858del (p.Ala287fs)
|
rs2125584640
|
|
NM_017875.4(SLC25A38):c.879T>G (p.Tyr293Ter)
|
rs1156987118
|
|
NM_017909.4(RMND1):c.829_830+2del
|
rs1780336606
|
|
NM_018063.5(HELLS):c.2096A>G (p.Gln699Arg)
|
rs879253733
|
|
NM_018063.5(HELLS):c.2283_2286del (p.Ser762fs)
|
rs879253734
|
|
NM_018063.5(HELLS):c.2394GTT[2] (p.Leu801del)
|
rs879253737
|
|
NM_018063.5(HELLS):c.374_381dup (p.Lys128Ter)
|
rs879253736
|
|
NM_018063.5(HELLS):c.610A>T (p.Lys204Ter)
|
rs879253735
|
|
NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter)
|
rs1405576707
|
|
NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs)
|
rs794726680
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018075.5(ANO10):c.1476+1G>T
|
rs761213683
|
|
NM_018075.5(ANO10):c.1551dup (p.Ala518fs)
|
rs2079693628
|
|
NM_018075.5(ANO10):c.1604del (p.Ala534_Leu535insTer)
|
rs794726681
|
|
NM_018075.5(ANO10):c.1669-2A>T
|
rs797045240
|
|
NM_018075.5(ANO10):c.206T>A (p.Leu69Ter)
|
rs2149481901
|
|
NM_018075.5(ANO10):c.306C>A (p.Tyr102Ter)
|
rs1210764379
|
|
NM_018075.5(ANO10):c.96del (p.Glu33fs)
|
rs758937084
|
|
NM_018117.12(WDR11):c.1255C>T (p.Gln419Ter)
|
rs2133748193
|
|
NM_018117.12(WDR11):c.1439del (p.Asn480fs)
|
rs747938475
|
|
NM_018117.12(WDR11):c.2931+1G>A
|
rs1252726486
|
|
NM_018117.12(WDR11):c.3033_3036del
|
rs760973100
|
|
NM_018131.5(CEP55):c.514dup (p.Ile172fs)
|
rs1169095680
|
|
NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter)
|
rs1297300713
|
|
NM_018136.4(ASPM):c.[10168C>T];[8098C>T]
|
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs)
|
rs199422137
|
|
NM_018136.5(ASPM):c.1179del (p.Asn394fs)
|
rs199422138
|
|
NM_018136.5(ASPM):c.117_118del (p.Leu41fs)
|
rs587783216
|
|
NM_018136.5(ASPM):c.1199del (p.Asn400fs)
|
|
|
NM_018136.5(ASPM):c.1260_1266del (p.Gln421fs)
|
rs199422139
|
|
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter)
|
rs199422141
|
|
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs)
|
rs199422144
|
|
NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs)
|
rs1057518268
|
|
NM_018136.5(ASPM):c.1726_1729del (p.Lys576fs)
|
rs587783221
|
|
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs)
|
rs199422146
|
|
NM_018136.5(ASPM):c.1798_1801del (p.Lys600fs)
|
rs1553227645
|
|
NM_018136.5(ASPM):c.1823_1824del (p.Glu608fs)
|
|
|
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs)
|
rs1170413397
|
|
NM_018136.5(ASPM):c.1932del (p.Phe645fs)
|
rs2125112411
|
|
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)
|
rs199422147
|
|
NM_018136.5(ASPM):c.2085G>A (p.Trp695Ter)
|
rs1553227021
|
|
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)
|
rs145489194
|
|
NM_018136.5(ASPM):c.2581dup (p.Ile861fs)
|
rs2125107857
|
|
NM_018136.5(ASPM):c.2760+1G>A
|
rs2125107452
|
|
NM_018136.5(ASPM):c.2936dup (p.Arg980fs)
|
rs797045311
|
|
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter)
|
rs199422151
|
|
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter)
|
rs199422152
|
|
NM_018136.5(ASPM):c.2968del (p.Asp990fs)
|
rs587783228
|
|
NM_018136.5(ASPM):c.297+1G>C
|
rs1553228275
|
|
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter)
|
rs199422153
|
|
NM_018136.5(ASPM):c.3082+1G>C
|
rs886041709
|
|
NM_018136.5(ASPM):c.3327T>G (p.Tyr1109Ter)
|
rs587783230
|
|
NM_018136.5(ASPM):c.3390+3_3390+6del
|
rs797045313
|
|
NM_018136.5(ASPM):c.3506_3507del (p.Val1169fs)
|
rs769818500
|
|
NM_018136.5(ASPM):c.3527C>G (p.Ser1176Ter)
|
rs199422157
|
|
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter)
|
rs199422159
|
|
NM_018136.5(ASPM):c.3741+1G>C
|
|
|
NM_018136.5(ASPM):c.3830G>A (p.Trp1277Ter)
|
rs587783238
|
|
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs)
|
rs587783239
|
|
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs)
|
rs587783240
|
|
NM_018136.5(ASPM):c.3974dup (p.Tyr1325Ter)
|
rs1553225179
|
|
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter)
|
rs137852995
|
|
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs)
|
rs199422163
|
|
NM_018136.5(ASPM):c.4250_4251del (p.Arg1416_Tyr1417insTer)
|
rs1571602991
|
|
NM_018136.5(ASPM):c.434del (p.Lys145fs)
|
rs2125114846
|
|
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)
|
rs1057520873
|
|
NM_018136.5(ASPM):c.4451_4455del (p.Tyr1484fs)
|
rs2125096622
|
|
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs)
|
rs587783245
|
|
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter)
|
rs199422165
|
|
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter)
|
rs587783247
|
|
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter)
|
rs587783248
|
|
NM_018136.5(ASPM):c.5467C>T (p.Gln1823Ter)
|
rs754909135
|
|
NM_018136.5(ASPM):c.5590_5591del (p.Leu1864fs)
|
rs1571601267
|
|
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs)
|
rs886041282
|
|
NM_018136.5(ASPM):c.5863dup (p.Gln1955fs)
|
rs1571600860
|
|
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter)
|
rs1553223496
|
|
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter)
|
rs137852997
|
|
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs)
|
rs199422169
|
|
NM_018136.5(ASPM):c.637del (p.Ile213fs)
|
rs587783258
|
|
NM_018136.5(ASPM):c.6513dup (p.Val2172fs)
|
rs1571600045
|
|
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs)
|
rs770540184
|
|
NM_018136.5(ASPM):c.6852_6855del (p.Leu2285fs)
|
rs587783259
|
|
NM_018136.5(ASPM):c.688del (p.Glu230fs)
|
rs1557966012
|
|
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter)
|
rs142865061
|
|
NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter)
|
rs1451306414
|
|
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.719_720del (p.Ser240fs)
|
rs199422135
|
|
NM_018136.5(ASPM):c.7308dup (p.Val2437fs)
|
rs797045315
|
|
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs)
|
rs758549961
|
|
NM_018136.5(ASPM):c.7612C>T (p.Gln2538Ter)
|
rs587783268
|
|
NM_018136.5(ASPM):c.7664_7665del (p.Lys2555fs)
|
rs587783269
|
|
NM_018136.5(ASPM):c.7665del (p.Ala2556fs)
|
rs587783269
|
|
NM_018136.5(ASPM):c.7748_7749del (p.Ile2583fs)
|
|
|
NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter)
|
rs189678019
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018136.5(ASPM):c.7783_7786del (p.Lys2595fs)
|
rs763800571
|
|
NM_018136.5(ASPM):c.7825C>T (p.Gln2609Ter)
|
rs587783272
|
|
NM_018136.5(ASPM):c.7857dup (p.Gln2620fs)
|
rs797045316
|
|
NM_018136.5(ASPM):c.803_804del (p.Lys268fs)
|
rs587783277
|
|
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs)
|
rs587783278
|
|
NM_018136.5(ASPM):c.8141del (p.Ala2714fs)
|
rs2125093720
|
|
NM_018136.5(ASPM):c.8191G>T (p.Glu2731Ter)
|
rs2125093662
|
|
NM_018136.5(ASPM):c.8195_8196del (p.Arg2732fs)
|
|
|
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
|
|
|
NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs)
|
rs1558328287
|
|
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter)
|
rs763909256
|
|
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)
|
rs587783280
|
|
NM_018136.5(ASPM):c.8596_8597del (p.Leu2866fs)
|
rs1571596976
|
|
NM_018136.5(ASPM):c.8700_8702delinsCC (p.Lys2900fs)
|
rs2125093294
|
|
NM_018136.5(ASPM):c.8702del (p.His2901fs)
|
|
|
NM_018136.5(ASPM):c.8704C>T (p.Gln2902Ter)
|
rs587783282
|
|
NM_018136.5(ASPM):c.8903G>A (p.Trp2968Ter)
|
rs587783285
|
|
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter)
|
rs587783287
|
|
NM_018136.5(ASPM):c.9104T>A (p.Leu3035Ter)
|
rs587783288
|
|
NM_018136.5(ASPM):c.9159del (p.Lys3053fs)
|
rs199422184
|
|
NM_018136.5(ASPM):c.9286C>T (p.Arg3096Ter)
|
rs774143329
|
|
NM_018136.5(ASPM):c.9309_9310del (p.Arg3103fs)
|
rs587783289
|
|
NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter)
|
rs199422187
|
|
NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter)
|
rs2125088498
|
|
NM_018136.5(ASPM):c.9492T>G (p.Tyr3164Ter)
|
rs143931757
|
|
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter)
|
rs199422189
|
|
NM_018136.5(ASPM):c.9641T>A (p.Leu3214Ter)
|
rs368682161
|
|
NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs)
|
rs199422196
|
|
NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter)
|
rs199422199
|
|
NM_018136.5(ASPM):c.9874C>T (p.Gln3292Ter)
|
rs2125087894
|
|
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter)
|
rs1482100822
|
|
NM_018136.5(ASPM):c.[1789C>T;2525_2531del]
|
|
|
NM_018161.5(NADSYN1):c.1819del (p.Val607fs)
|
rs1327307171
|
|
NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter)
|
rs1008561025
|
|
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr)
|
rs764123669
|
|
NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter)
|
rs1949650831
|
|
NM_018230.3(NUP133):c.3335-11T>A
|
rs1433513056
|
|
NM_018249.6(CDK5RAP2):c.1018del (p.Glu340fs)
|
rs797045441
|
|
NM_018249.6(CDK5RAP2):c.1376del (p.Asn459fs)
|
rs1588472215
|
|
NM_018249.6(CDK5RAP2):c.217_220del (p.Glu73fs)
|
|
|
NM_018249.6(CDK5RAP2):c.246T>A (p.Tyr82Ter)
|
rs199422126
|
|
NM_018249.6(CDK5RAP2):c.3545_3546del (p.His1182fs)
|
rs2131327802
|
|
NM_018249.6(CDK5RAP2):c.355G>T (p.Glu119Ter)
|
rs376990082
|
|
NM_018249.6(CDK5RAP2):c.3851T>A (p.Leu1284Ter)
|
|
|
NM_018249.6(CDK5RAP2):c.4005-15A>G
|
rs387906274
|
|
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter)
|
rs754282058
|
|
NM_018249.6(CDK5RAP2):c.4604+1G>C
|
rs869025200
|
|
NM_018249.6(CDK5RAP2):c.4670_4671del (p.Leu1557fs)
|
rs1554730137
|
|
NM_018249.6(CDK5RAP2):c.5127_5128dup (p.Ser1710fs)
|
rs1554728351
|
|
NM_018249.6(CDK5RAP2):c.558_559del (p.Glu186fs)
|
|
|
NM_018249.6(CDK5RAP2):c.564_565dup (p.Lys189fs)
|
rs2131964849
|
|
NM_018249.6(CDK5RAP2):c.700G>T (p.Glu234Ter)
|
rs398122971
|
|
NM_018255.4(ELP2):c.1385G>T (p.Arg462Leu)
|
rs371310428
|
|
NM_018255.4(ELP2):c.1663A>C (p.Thr555Pro)
|
rs772450541
|
|
NM_018255.4(ELP2):c.293dup (p.Leu98fs)
|
rs529659464
|
|
NM_018275.5(TRAPPC14):c.613G>T (p.Glu205Ter)
|
rs149225624
|
|
NM_018294.6(CWF19L1):c.1070G>T (p.Gly357Val)
|
|
|
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter)
|
rs1846512047
|
|
NM_018294.6(CWF19L1):c.1375-2A>G
|
|
|
NM_018294.6(CWF19L1):c.467del (p.Pro156fs)
|
rs879255654
|
|
NM_018294.6(CWF19L1):c.520A>T (p.Lys174Ter)
|
rs2134307362
|
|
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter)
|
rs1589625941
|
|
NM_018294.6(CWF19L1):c.708+294_1044+1540del
|
|
|
NM_018294.6(CWF19L1):c.946A>T (p.Lys316Ter)
|
rs879255653
|
|
NM_018389.5(SLC35C1):c.367del (p.Val123fs)
|
rs2085872592
|
|
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.778C>T (p.Gln260Ter)
|
rs1470970903
|
|
NM_018389.5(SLC35C1):c.891T>A (p.Asn297Lys)
|
rs2134598310
|
|
NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter)
|
rs398124345
|
|
NM_018389.5(SLC35C1):c.923C>G (p.Thr308Arg)
|
rs28937886
|
|
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp)
|
rs768028061
|
|
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile)
|
rs371609982
|
|
NM_018418.5(SPATA7):c.265_268del (p.Leu89fs)
|
rs777346333
|
|
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer)
|
rs567890014
|
|
NM_018418.5(SPATA7):c.[1160+1G>A];[388C>T]
|
|
|
NM_018451.5(CENPJ):c.1339A>T (p.Lys447Ter)
|
rs797045447
|
|
NM_018451.5(CENPJ):c.1404_1407del (p.Ser469fs)
|
rs777893196
|
|
NM_018451.5(CENPJ):c.1434del (p.Lys479fs)
|
rs1954548327
|
|
NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs)
|
rs797045448
|
|
NM_018451.5(CENPJ):c.1882del (p.Ala628fs)
|
rs797045449
|
|
NM_018451.5(CENPJ):c.18del (p.Ser7fs)
|
rs199422202
|
|
NM_018451.5(CENPJ):c.2117_2118del (p.Asp705_Ser706insTer)
|
rs761856922
|
|
NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter)
|
rs749343808
|
|
NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs)
|
rs797045452
|
|
NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs)
|
rs199422203
|
|
NM_018451.5(CENPJ):c.3302-1G>C
|
rs864321658
|
|
NM_018451.5(CENPJ):c.3309dup (p.Pro1104fs)
|
rs1131691823
|
|
NM_018451.5(CENPJ):c.3586G>A (p.Asp1196Asn)
|
rs1555294652
|
|
NM_018451.5(CENPJ):c.3704A>T (p.Glu1235Val)
|
rs121434311
|
|
NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs)
|
rs1060499557
|
|
NM_018451.5(CENPJ):c.59G>A (p.Trp20Ter)
|
rs1555299107
|
|
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs)
|
rs797045454
|
|
NM_018669.6(WDR4):c.454-2A>C
|
rs779449710
|
|
NM_018669.6(WDR4):c.491A>C (p.Asp164Ala)
|
rs1555976610
|
|
NM_018669.6(WDR4):c.911_927dup (p.Gln310fs)
|
rs1569314907
|
|
NM_018669.6(WDR4):c.940dup (p.Leu314fs)
|
rs776760122
|
|
NM_018699.3(PRDM5):c.946_1623del
|
|
|
NM_018699.4(PRDM5):c.1036C>T (p.Arg346Ter)
|
|
|
NM_018699.4(PRDM5):c.93+1G>A
|
rs1267369024
|
|
NM_018699.4(PRDM5):c.93+2T>C
|
rs1579259095
|
|
NM_018718.3(CEP41):c.33+2T>G
|
rs1584916464
|
|
NM_018718.3(CEP41):c.34-2A>G
|
rs1797714974
|
|
NM_018718.3(CEP41):c.423-2A>C
|
rs781815473
|
|
NM_018718.3(CEP41):c.423-2A>G
|
rs781815473
|
|
NM_018718.3(CEP41):c.477del (p.Glu160fs)
|
|
|
NM_018718.3(CEP41):c.7del (p.Leu3fs)
|
rs1798139951
|
|
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)
|
rs1584901211
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
|
|
NM_018718.3(CEP41):c.880del (p.Leu294fs)
|
|
|
NM_018718.3(CEP41):c.97+3_97+5del
|
rs2117674119
|
|
NM_018965.4(TREM2):c.40+1G>A
|
|
|
NM_018965.4(TREM2):c.40+4_40+6del
|
rs386834142
|
|
NM_018965.4(TREM2):c.401A>G (p.Asp134Gly)
|
rs28939079
|
|
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter)
|
rs386834143
|
|
NM_018965.4(TREM2):c.558G>T (p.Lys186Asn)
|
rs28937876
|
|
NM_018972.2(GDAP1):c.[347T>C];[62delA]
|
|
|
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs)
|
rs756461496
|
|
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)
|
rs761035569
|
|
NM_018972.4(GDAP1):c.116del (p.Lys39fs)
|
rs778547659
|
|
NM_018972.4(GDAP1):c.139A>T (p.Lys47Ter)
|
|
|
NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter)
|
rs2131493453
|
|
NM_018972.4(GDAP1):c.167dup (p.Ser57fs)
|
|
|
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs)
|
rs1586795216
|
|
NM_018972.4(GDAP1):c.1A>G (p.Met1Val)
|
|
|
NM_018972.4(GDAP1):c.1del (p.Met1fs)
|
|
|
NM_018972.4(GDAP1):c.22C>T (p.Gln8Ter)
|
rs1586794015
|
|
NM_018972.4(GDAP1):c.235_239del (p.Val79fs)
|
rs1243845978
|
|
NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter)
|
rs1808867656
|
|
NM_018972.4(GDAP1):c.250del (p.Glu84fs)
|
rs1241632021
|
|
NM_018972.4(GDAP1):c.27_28del (p.Gly10fs)
|
rs2131493519
|
|
NM_018972.4(GDAP1):c.310+1G>A
|
rs1808872865
|
|
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)
|
rs1586803063
|
|
NM_018972.4(GDAP1):c.361del (p.Val121fs)
|
rs2131512540
|
|
NM_018972.4(GDAP1):c.367del (p.His123fs)
|
|
|
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)
|
rs397515442
|
|
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys)
|
rs879254005
|
|
NM_018972.4(GDAP1):c.395del (p.Pro132fs)
|
|
|
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr)
|
rs1443963090
|
|
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly)
|
rs397515441
|
|
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)
|
rs104894079
|
|
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)
|
rs104894076
|
|
NM_018972.4(GDAP1):c.503_504del (p.Glu168fs)
|
rs1221804567
|
|
NM_018972.4(GDAP1):c.536del (p.Pro179fs)
|
rs1169652308
|
|
NM_018972.4(GDAP1):c.549del (p.Ala184fs)
|
|
|
NM_018972.4(GDAP1):c.550dup (p.Ala184fs)
|
|
|
NM_018972.4(GDAP1):c.558del (p.Ile186fs)
|
rs770658701
|
|
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)
|
rs1554547986
|
|
NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter)
|
rs1085307665
|
|
NM_018972.4(GDAP1):c.579+1G>A
|
rs864622501
|
|
NM_018972.4(GDAP1):c.579del (p.Lys193fs)
|
rs1060500979
|
|
NM_018972.4(GDAP1):c.618dup (p.Lys207fs)
|
rs1809447471
|
|
NM_018972.4(GDAP1):c.694+1G>A
|
rs1183978180
|
|
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter)
|
rs1554548334
|
|
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
|
|
|
NM_018972.4(GDAP1):c.786del (p.Phe263fs)
|
rs1060500978
|
|
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser)
|
rs1417699318
|
|
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer)
|
rs1586807387
|
|
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)
|
rs1323153568
|
|
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter)
|
rs121908112
|
|
NM_018972.4(GDAP1):c.934del (p.Ala312fs)
|
|
|
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)
|
rs397515432
|
|
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)
|
rs775796581
|
|
NM_019098.5(CNGB3):c.991-3T>G
|
rs773372519
|
|
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)
|
rs121918130
|
|
NM_019892.6(INPP5E):c.473del (p.Gly158fs)
|
rs779450345
|
|
NM_020066.5(FMN2):c.1394dup (p.Ala466fs)
|
rs727502860
|
|
NM_020066.5(FMN2):c.1550del (p.Pro517fs)
|
rs1390970926
|
|
NM_020066.5(FMN2):c.1618C>T (p.Arg540Ter)
|
rs1247510585
|
|
NM_020066.5(FMN2):c.2515del (p.Thr839fs)
|
rs727502861
|
|
NM_020127.3(TUFT1):c.564del (p.Gln189fs)
|
|
|
NM_020127.3(TUFT1):c.60+1G>A
|
|
|
NM_020232.5(PSMG2):c.666_667del (p.Tyr223fs)
|
rs2040458488
|
|
NM_020232.5(PSMG2):c.675T>G (p.Asn225Lys)
|
rs1323730269
|
|
NM_020247.4(ADCK3):c.[1042C>T;1651G>A]
|
|
|
NM_020247.5(COQ8A):c.127del (p.Leu43fs)
|
rs754586499
|
|
NM_020247.5(COQ8A):c.1334_1335del (p.Thr445fs)
|
rs797045217
|
|
NM_020247.5(COQ8A):c.1358del (p.Leu453fs)
|
rs1271428051
|
|
NM_020247.5(COQ8A):c.1396del (p.Glu466fs)
|
rs1553280621
|
|
NM_020247.5(COQ8A):c.1398+2T>C
|
rs606231138
|
|
NM_020247.5(COQ8A):c.1506+1G>A
|
rs974677376
|
|
NM_020247.5(COQ8A):c.1579dup (p.Arg527fs)
|
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter)
|
rs1572040505
|
|
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs)
|
rs387906298
|
|
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp)
|
rs752130338
|
|
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)
|
rs764847439
|
|
NM_020247.5(COQ8A):c.500_521delinsTTG (p.Gln167fs)
|
rs606231139
|
|
NM_020247.5(COQ8A):c.656-1G>T
|
rs903436781
|
|
NM_020247.5(COQ8A):c.814G>T (p.Gly272Cys)
|
rs1659735679
|
|
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp)
|
rs119468006
|
|
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val)
|
rs119468006
|
|
NM_020247.5(COQ8A):c.830T>C (p.Leu277Pro)
|
rs781518112
|
|
NM_020347.4(LZTFL1):c.253C>T (p.Arg85Ter)
|
|
|
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)
|
rs515726135
|
|
NM_020347.4(LZTFL1):c.402_406del (p.Pro136fs)
|
rs431825171
|
|
NM_020347.4(LZTFL1):c.415dup (p.Ala139fs)
|
|
|
NM_020366.3(RPGRIP1):c.[2302C>T];[3565_3571del]
|
|
|
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
|
rs61751266
|
|
NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)
|
|
|
NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=)
|
rs1064797181
|
|
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter)
|
rs137853124
|
|
NM_020366.4(RPGRIP1):c.2367+23del
|
rs781728563
|
|
NM_020366.4(RPGRIP1):c.2368-2A>G
|
rs1064797182
|
|
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs)
|
rs61751270
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
|
NM_020366.4(RPGRIP1):c.3339+5G>A
|
rs1057518122
|
|
NM_020366.4(RPGRIP1):c.3565_3571del (p.Arg1189fs)
|
rs587783012
|
|
NM_020366.4(RPGRIP1):c.[2079C>G];[2212_2215+21del]
|
|
|
NM_020374.4(C12orf4):c.187G>T (p.Glu63Ter)
|
|
|
NM_020374.4(C12orf4):c.639_640insACAA (p.Gln214fs)
|
rs730882197
|
|
NM_020401.4(NUP107):c.1325G>A (p.Cys442Tyr)
|
rs745342141
|
|
NM_020401.4(NUP107):c.303G>A (p.Met101Ile)
|
rs730882216
|
|
NM_020458.4(TTC7A):c.1001+3_1001+6del
|
rs587776971
|
|
NM_020458.4(TTC7A):c.1008C>G (p.Tyr336Ter)
|
rs587777548
|
|
NM_020458.4(TTC7A):c.1018dup (p.Asp340fs)
|
rs762504554
|
|
NM_020458.4(TTC7A):c.1039dup (p.Leu347fs)
|
rs1572849873
|
|
NM_020458.4(TTC7A):c.1072C>T (p.Arg358Ter)
|
rs1297794582
|
|
NM_020458.4(TTC7A):c.1213C>T (p.Arg405Ter)
|
rs779549457
|
|
NM_020458.4(TTC7A):c.1250G>A (p.Trp417Ter)
|
rs1558568116
|
|
NM_020458.4(TTC7A):c.1281_1282insTT (p.Gly428fs)
|
|
|
NM_020458.4(TTC7A):c.1288-1G>T
|
rs568082272
|
|
NM_020458.4(TTC7A):c.1322_1323del (p.Val441fs)
|
rs762466884
|
|
NM_020458.4(TTC7A):c.1355dup (p.Met453fs)
|
rs2104485613
|
|
NM_020458.4(TTC7A):c.1450G>T (p.Glu484Ter)
|
|
|
NM_020458.4(TTC7A):c.1481del (p.Gly494fs)
|
rs587777549
|
|
NM_020458.4(TTC7A):c.1510+105T>A
|
rs587777551
|
|
NM_020458.4(TTC7A):c.1528C>T (p.Gln510Ter)
|
|
|
NM_020458.4(TTC7A):c.1576C>T (p.Gln526Ter)
|
rs786205698
|
|
NM_020458.4(TTC7A):c.1630del (p.Leu544fs)
|
|
|
NM_020458.4(TTC7A):c.1673_1674insG (p.Leu559fs)
|
rs587777550
|
|
NM_020458.4(TTC7A):c.176del (p.Pro59fs)
|
|
|
NM_020458.4(TTC7A):c.1869C>A (p.Cys623Ter)
|
rs1682321195
|
|
NM_020458.4(TTC7A):c.192del (p.Phe64fs)
|
rs1476031758
|
|
NM_020458.4(TTC7A):c.2109del (p.Met704fs)
|
|
|
NM_020458.4(TTC7A):c.2146C>T (p.Gln716Ter)
|
rs762685822
|
|
NM_020458.4(TTC7A):c.2264del (p.Ala755fs)
|
|
|
NM_020458.4(TTC7A):c.226C>T (p.Gln76Ter)
|
|
|
NM_020458.4(TTC7A):c.2272A>T (p.Lys758Ter)
|
|
|
NM_020458.4(TTC7A):c.2470C>T (p.Gln824Ter)
|
rs1057516047
|
|
NM_020458.4(TTC7A):c.2470dup (p.Gln824fs)
|
rs768053395
|
|
NM_020458.4(TTC7A):c.280A>T (p.Lys94Ter)
|
rs766411601
|
|
NM_020458.4(TTC7A):c.315_318del (p.Asn104_Tyr105insTer)
|
rs886037747
|
|
NM_020458.4(TTC7A):c.499G>T (p.Glu167Ter)
|
|
|
NM_020458.4(TTC7A):c.565del (p.Arg188_Leu189insTer)
|
rs2104231304
|
|
NM_020458.4(TTC7A):c.764+1del
|
rs886037746
|
|
NM_020458.4(TTC7A):c.829C>T (p.Gln277Ter)
|
rs587777547
|
|
NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs)
|
rs1644626732
|
|
NM_020631.6(PLEKHG5):c.1128T>A (p.Cys376Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs)
|
rs1644591704
|
|
NM_020631.6(PLEKHG5):c.1258del (p.Asp420fs)
|
|
|
NM_020631.6(PLEKHG5):c.1327G>T (p.Glu443Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1396del (p.Ala466fs)
|
|
|
NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs)
|
rs1644550472
|
|
NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs)
|
rs1644549927
|
|
NM_020631.6(PLEKHG5):c.1644C>G (p.Tyr548Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1728dup (p.Ala577fs)
|
|
|
NM_020631.6(PLEKHG5):c.1736dup (p.Glu580fs)
|
|
|
NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter)
|
rs760122001
|
|
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs)
|
rs1644525008
|
|
NM_020631.6(PLEKHG5):c.187A>T (p.Lys63Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser)
|
rs63750315
|
|
NM_020631.6(PLEKHG5):c.2074_2075del (p.Gln692fs)
|
rs2148578668
|
|
NM_020631.6(PLEKHG5):c.2132del (p.Gln711fs)
|
|
|
NM_020631.6(PLEKHG5):c.2146G>T (p.Glu716Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2149G>T (p.Glu717Ter)
|
rs184242303
|
|
NM_020631.6(PLEKHG5):c.2150_2154del (p.Glu717fs)
|
|
|
NM_020631.6(PLEKHG5):c.2158G>T (p.Glu720Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2231del (p.Ser744fs)
|
|
|
NM_020631.6(PLEKHG5):c.2242C>T (p.Gln748Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2366_2367del (p.Leu789fs)
|
rs759212541
|
|
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs)
|
rs753593088
|
|
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg)
|
rs202191898
|
|
NM_020631.6(PLEKHG5):c.2471del (p.Pro824fs)
|
|
|
NM_020631.6(PLEKHG5):c.2489_2490del (p.Phe830fs)
|
|
|
NM_020631.6(PLEKHG5):c.2540del (p.Pro847fs)
|
|
|
NM_020631.6(PLEKHG5):c.2628dup (p.Lys877Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2665del (p.Ala889fs)
|
|
|
NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2880_2881del (p.Pro961fs)
|
|
|
NM_020631.6(PLEKHG5):c.2902del (p.Val968fs)
|
|
|
NM_020631.6(PLEKHG5):c.2945del (p.Lys982fs)
|
|
|
NM_020631.6(PLEKHG5):c.363C>A (p.Tyr121Ter)
|
|
|
NM_020631.6(PLEKHG5):c.365_378del (p.Leu122fs)
|
|
|
NM_020631.6(PLEKHG5):c.386del (p.Leu129fs)
|
rs2148591365
|
|
NM_020631.6(PLEKHG5):c.38del (p.Pro13fs)
|
rs397515454
|
|
NM_020631.6(PLEKHG5):c.38dup (p.Gln14fs)
|
|
|
NM_020631.6(PLEKHG5):c.453_543del (p.Gly152fs)
|
rs1569875704
|
|
NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs)
|
rs1644651573
|
|
NM_020631.6(PLEKHG5):c.909C>A (p.Tyr303Ter)
|
rs376900021
|
|
NM_020631.6(PLEKHG5):c.912_918dup (p.Glu307Ter)
|
rs397515455
|
|
NM_020631.6(PLEKHG5):c.985-2A>G
|
rs1553174566
|
|
NM_020632.3(ATP6V0A4):c.1030-2A>C
|
|
|
NM_020632.3(ATP6V0A4):c.105del (p.Gln36fs)
|
rs587776616
|
|
NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter)
|
rs121908369
|
|
NM_020632.3(ATP6V0A4):c.1510C>T (p.Gln504Ter)
|
|
|
NM_020632.3(ATP6V0A4):c.1872C>A (p.Tyr624Ter)
|
rs1464966535
|
|
NM_020632.3(ATP6V0A4):c.2137del (p.Glu713fs)
|
rs1804439932
|
|
NM_020632.3(ATP6V0A4):c.2140-61_2257+166del
|
rs1803996097
|
|
NM_020632.3(ATP6V0A4):c.292-1G>A
|
rs776867749
|
|
NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs)
|
rs1584934951
|
|
NM_020632.3(ATP6V0A4):c.418-1G>A
|
rs587776617
|
|
NM_020632.3(ATP6V0A4):c.829del (p.Thr277fs)
|
rs2117291505
|
|
NM_020661.4(AICDA):c.177_185del (p.Leu59_Leu62delinsPhe)
|
rs387906329
|
|
NM_020661.4(AICDA):c.203G>A (p.Trp68Ter)
|
rs104894325
|
|
NM_020661.4(AICDA):c.22_40del (p.Arg8fs)
|
rs387906328
|
|
NM_020661.4(AICDA):c.238T>C (p.Trp80Arg)
|
rs104894320
|
|
NM_020661.4(AICDA):c.295C>T (p.Arg99Ter)
|
|
|
NM_020661.4(AICDA):c.317T>C (p.Leu106Pro)
|
rs104894321
|
|
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)
|
rs2136431608
|
|
NM_020661.4(AICDA):c.415A>G (p.Met139Val)
|
rs104894322
|
|
NM_020661.4(AICDA):c.452T>C (p.Phe151Ser)
|
rs104894327
|
|
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)
|
rs769399833
|
|
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp)
|
rs104894324
|
|
NM_020661.4(AICDA):c.93C>A (p.Tyr31Ter)
|
|
|
NM_020680.4(SCYL1):c.1386+1G>A
|
|
|
NM_020680.4(SCYL1):c.1386+1G>T
|
rs201581270
|
|
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly)
|
rs1554969925
|
|
NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter)
|
rs1554967681
|
|
NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter)
|
rs1554970375
|
|
NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter)
|
rs1320473430
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020751.3(COG6):c.252del (p.Ala85fs)
|
rs2137942150
|
|
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
|
|
|
NM_020779.4(WDR35):c.1322G>A (p.Trp441Ter)
|
|
|
NM_020779.4(WDR35):c.1554C>G (p.Tyr518Ter)
|
|
|
NM_020779.4(WDR35):c.1609C>T (p.Gln537Ter)
|
|
|
NM_020779.4(WDR35):c.171_178del (p.Ser59fs)
|
|
|
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly)
|
rs267607174
|
|
NM_020779.4(WDR35):c.1954_1955insAAAC (p.Leu652fs)
|
rs2103406171
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
NM_020779.4(WDR35):c.2638dup (p.Thr880fs)
|
rs2103399754
|
|
NM_020779.4(WDR35):c.2701G>T (p.Glu901Ter)
|
|
|
NM_020779.4(WDR35):c.2858del (p.Pro953fs)
|
rs397515334
|
|
NM_020779.4(WDR35):c.2976del (p.Leu993fs)
|
rs1490771127
|
|
NM_020779.4(WDR35):c.297del (p.Met99fs)
|
rs867715686
|
|
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr)
|
rs1553316264
|
|
NM_020779.4(WDR35):c.3426G>T (p.Trp1142Cys)
|
rs1553313859
|
|
NM_020894.4(UVSSA):c.87del (p.Ile31fs)
|
rs778975867
|
|
NM_020964.2(EPG5):c.[1188delC;2598A>G]
|
|
|
NM_020964.2(EPG5):c.[1A>G;4108delC]
|
|
|
NM_020964.2(EPG5):c.[2461C>T;3582G>A]
|
|
|
NM_020964.2(EPG5):c.[2T>C;5792delT]
|
|
|
NM_020964.2(EPG5):c.[3044C>T;6766+1G>C]
|
|
|
NM_020964.2(EPG5):c.[3152C>G;4230G>A]
|
|
|
NM_020964.3(EPG5):c.1017_1018del (p.Ala340fs)
|
rs2050937885
|
|
NM_020964.3(EPG5):c.102del (p.Ser35fs)
|
|
|
NM_020964.3(EPG5):c.1166C>G (p.Ser389Ter)
|
|
|
NM_020964.3(EPG5):c.1252+1G>A
|
|
|
NM_020964.3(EPG5):c.1252+1G>T
|
rs763788808
|
|
NM_020964.3(EPG5):c.1253-1G>A
|
rs1470797555
|
|
NM_020964.3(EPG5):c.1351C>T (p.Gln451Ter)
|
|
|
NM_020964.3(EPG5):c.1405dup (p.Arg469fs)
|
|
|
NM_020964.3(EPG5):c.1435_1438del (p.Phe478_Leu479insTer)
|
rs762639913
|
|
NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter)
|
rs1203870830
|
|
NM_020964.3(EPG5):c.1521del (p.Val509fs)
|
|
|
NM_020964.3(EPG5):c.1629_1630del (p.Gly544fs)
|
|
|
NM_020964.3(EPG5):c.1777_1781del (p.Leu592_Gly593insTer)
|
|
|
NM_020964.3(EPG5):c.1847_1859del (p.Ala615_Phe616insTer)
|
|
|
NM_020964.3(EPG5):c.1924C>T (p.Arg642Ter)
|
rs912986968
|
|
NM_020964.3(EPG5):c.1991del (p.His664fs)
|
|
|
NM_020964.3(EPG5):c.2041del (p.Gln681fs)
|
rs2145880933
|
|
NM_020964.3(EPG5):c.205C>T (p.Gln69Ter)
|
|
|
NM_020964.3(EPG5):c.2066del (p.Phe688_Leu689insTer)
|
rs2050617604
|
|
NM_020964.3(EPG5):c.2147_2150del (p.Ser716fs)
|
|
|
NM_020964.3(EPG5):c.2191dup (p.Glu731fs)
|
|
|
NM_020964.3(EPG5):c.2236C>T (p.Gln746Ter)
|
rs2050481336
|
|
NM_020964.3(EPG5):c.2353dup (p.Ala785fs)
|
rs1085308062
|
|
NM_020964.3(EPG5):c.2355del (p.Arg786fs)
|
|
|
NM_020964.3(EPG5):c.2413-2A>G
|
|
|
NM_020964.3(EPG5):c.2427del (p.Leu810fs)
|
rs2145807103
|
|
NM_020964.3(EPG5):c.2449del (p.Ser817fs)
|
|
|
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter)
|
rs587776941
|
|
NM_020964.3(EPG5):c.2662A>T (p.Lys888Ter)
|
rs769833086
|
|
NM_020964.3(EPG5):c.2737C>T (p.Gln913Ter)
|
|
|
NM_020964.3(EPG5):c.277G>T (p.Glu93Ter)
|
|
|
NM_020964.3(EPG5):c.2953C>T (p.Gln985Ter)
|
|
|
NM_020964.3(EPG5):c.299_300del (p.Thr100fs)
|
|
|
NM_020964.3(EPG5):c.310_311dup (p.Glu105fs)
|
rs1483969601
|
|
NM_020964.3(EPG5):c.3148C>T (p.Gln1050Ter)
|
|
|
NM_020964.3(EPG5):c.3200del (p.Leu1067fs)
|
|
|
NM_020964.3(EPG5):c.3210_3213del (p.Cys1071fs)
|
|
|
NM_020964.3(EPG5):c.3248C>A (p.Ser1083Ter)
|
|
|
NM_020964.3(EPG5):c.3325C>T (p.Gln1109Ter)
|
|
|
NM_020964.3(EPG5):c.333del (p.Cys112fs)
|
|
|
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter)
|
rs587776940
|
|
NM_020964.3(EPG5):c.3487C>T (p.Gln1163Ter)
|
|
|
NM_020964.3(EPG5):c.3493_3497del (p.Ile1165fs)
|
|
|
NM_020964.3(EPG5):c.3544G>T (p.Glu1182Ter)
|
rs2145712492
|
|
NM_020964.3(EPG5):c.3590T>A (p.Leu1197Ter)
|
|
|
NM_020964.3(EPG5):c.3614del (p.Leu1205fs)
|
rs1568150793
|
|
NM_020964.3(EPG5):c.3698G>A (p.Trp1233Ter)
|
rs1555673917
|
|
NM_020964.3(EPG5):c.3762_3789dup (p.Ala1264delinsTyrTer)
|
rs1555673890
|
|
NM_020964.3(EPG5):c.3785del (p.Asn1262fs)
|
|
|
NM_020964.3(EPG5):c.3859C>T (p.Gln1287Ter)
|
|
|
NM_020964.3(EPG5):c.3882_3883del (p.Trp1294fs)
|
|
|
NM_020964.3(EPG5):c.3937C>T (p.Gln1313Ter)
|
rs986592823
|
|
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu)
|
rs1085308061
|
|
NM_020964.3(EPG5):c.4020dup (p.Gln1341fs)
|
rs2145667073
|
|
NM_020964.3(EPG5):c.4051G>T (p.Glu1351Ter)
|
|
|
NM_020964.3(EPG5):c.4132G>T (p.Glu1378Ter)
|
|
|
NM_020964.3(EPG5):c.424G>T (p.Glu142Ter)
|
rs190673127
|
|
NM_020964.3(EPG5):c.4286del (p.His1429fs)
|
rs1568142333
|
|
NM_020964.3(EPG5):c.4391del (p.Gly1464fs)
|
|
|
NM_020964.3(EPG5):c.4499T>A (p.Leu1500Ter)
|
|
|
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter)
|
rs587776939
|
|
NM_020964.3(EPG5):c.4636C>T (p.Gln1546Ter)
|
|
|
NM_020964.3(EPG5):c.4719T>G (p.Tyr1573Ter)
|
|
|
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter)
|
rs1568133760
|
|
NM_020964.3(EPG5):c.486_491del (p.Tyr162_Gln164delinsTer)
|
|
|
NM_020964.3(EPG5):c.4876C>T (p.Gln1626Ter)
|
|
|
NM_020964.3(EPG5):c.5022_5023insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGCCTTTTCTTT (p.Thr1675delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer)
|
rs2145474267
|
|
NM_020964.3(EPG5):c.5045_5057dup (p.Arg1686_His1687insTer)
|
|
|
NM_020964.3(EPG5):c.5107C>T (p.Gln1703Ter)
|
|
|
NM_020964.3(EPG5):c.5110-1G>C
|
|
|
NM_020964.3(EPG5):c.5322del (p.Trp1774fs)
|
|
|
NM_020964.3(EPG5):c.5382_5388del (p.Ala1795fs)
|
rs2145422618
|
|
NM_020964.3(EPG5):c.5389dup (p.Thr1797fs)
|
|
|
NM_020964.3(EPG5):c.5472C>G (p.Tyr1824Ter)
|
|
|
NM_020964.3(EPG5):c.5544del (p.Glu1849fs)
|
|
|
NM_020964.3(EPG5):c.5564_5565del (p.Leu1855fs)
|
|
|
NM_020964.3(EPG5):c.5576del (p.Gly1859fs)
|
|
|
NM_020964.3(EPG5):c.5617G>T (p.Glu1873Ter)
|
rs370720753
|
|
NM_020964.3(EPG5):c.5659_5660del (p.Asp1887fs)
|
rs2049058963
|
|
NM_020964.3(EPG5):c.5660_5664del (p.Asp1887fs)
|
|
|
NM_020964.3(EPG5):c.5669dup (p.Met1891fs)
|
|
|
NM_020964.3(EPG5):c.5683C>T (p.Gln1895Ter)
|
|
|
NM_020964.3(EPG5):c.5704dup (p.Tyr1902fs)
|
|
|
NM_020964.3(EPG5):c.5774del (p.Ala1925fs)
|
rs2145393546
|
|
NM_020964.3(EPG5):c.582del (p.Asn194fs)
|
|
|
NM_020964.3(EPG5):c.5870-2A>G
|
rs1599474108
|
|
NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter)
|
rs763614919
|
|
NM_020964.3(EPG5):c.5943-9_5943-5del
|
rs773330060
|
|
NM_020964.3(EPG5):c.5962_5968del (p.Tyr1987_Pro1988insTer)
|
|
|
NM_020964.3(EPG5):c.5971G>T (p.Glu1991Ter)
|
|
|
NM_020964.3(EPG5):c.6020_6021del (p.Cys2007fs)
|
rs1064795230
|
|
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)
|
rs1568107449
|
|
NM_020964.3(EPG5):c.6218del (p.Phe2073fs)
|
|
|
NM_020964.3(EPG5):c.631A>T (p.Arg211Ter)
|
|
|
NM_020964.3(EPG5):c.6353_6356del (p.Val2118fs)
|
rs1599447883
|
|
NM_020964.3(EPG5):c.6377T>G (p.Leu2126Ter)
|
|
|
NM_020964.3(EPG5):c.6410_6411del (p.Thr2137fs)
|
|
|
NM_020964.3(EPG5):c.6419dup (p.Leu2141fs)
|
|
|
NM_020964.3(EPG5):c.6541G>T (p.Glu2181Ter)
|
|
|
NM_020964.3(EPG5):c.6577del (p.Val2193fs)
|
rs1599445663
|
|
NM_020964.3(EPG5):c.6689del (p.Asn2230fs)
|
|
|
NM_020964.3(EPG5):c.671_672insCAGC (p.Gly225fs)
|
|
|
NM_020964.3(EPG5):c.6724del (p.Met2242fs)
|
|
|
NM_020964.3(EPG5):c.6885G>A (p.Trp2295Ter)
|
rs772325682
|
|
NM_020964.3(EPG5):c.6898dup (p.Met2300fs)
|
|
|
NM_020964.3(EPG5):c.7156G>T (p.Glu2386Ter)
|
rs373944025
|
|
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter)
|
rs372940918
|
|
NM_020964.3(EPG5):c.7459C>T (p.Arg2487Ter)
|
rs2145173322
|
|
NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup)
|
rs773682747
|
|
NM_020982.4(CLDN9):c.86del (p.Leu29fs)
|
rs2072541692
|
|
NM_021116.4(ADCY1):c.3112C>T (p.Arg1038Ter)
|
rs587777497
|
|
NM_021252.5(RAB18):c.274AGA[1] (p.Arg93del)
|
rs587776875
|
|
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln)
|
rs387906833
|
|
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln)
|
rs387906832
|
|
NM_021628.2:c.435-?_554+?del
|
|
|
NM_021628.3(ALOXE3):c.1031_1039del (p.Gln344_Ala347delinsPro)
|
rs1979966591
|
|
NM_021628.3(ALOXE3):c.1061G>A (p.Trp354Ter)
|
rs767046669
|
|
NM_021628.3(ALOXE3):c.1164G>T (p.Trp388Cys)
|
rs1979931284
|
|
NM_021628.3(ALOXE3):c.1186C>A (p.Arg396Ser)
|
rs121434234
|
|
NM_021628.3(ALOXE3):c.1193C>T (p.Ser398Phe)
|
rs1979924544
|
|
NM_021628.3(ALOXE3):c.1202T>A (p.Leu401Gln)
|
rs761241768
|
|
NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg)
|
rs1296095311
|
|
NM_021628.3(ALOXE3):c.1246T>C (p.Cys416Arg)
|
rs1979917479
|
|
NM_021628.3(ALOXE3):c.1280T>C (p.Leu427Pro)
|
rs1355284797
|
|
NM_021628.3(ALOXE3):c.1292dup (p.His431fs)
|
rs1567999431
|
|
NM_021628.3(ALOXE3):c.1305+1_1305+2delinsTA
|
rs1979909742
|
|
NM_021628.3(ALOXE3):c.1393-1G>A
|
rs1979807431
|
|
NM_021628.3(ALOXE3):c.1432del (p.Ser478fs)
|
rs2151838171
|
|
NM_021628.3(ALOXE3):c.1498G>T (p.Val500Phe)
|
rs121434232
|
|
NM_021628.3(ALOXE3):c.1786-63_1807del
|
rs1979055447
|
|
NM_021628.3(ALOXE3):c.1803_1804dup (p.Met602fs)
|
rs1979055873
|
|
NM_021628.3(ALOXE3):c.1812T>A (p.Asn604Lys)
|
rs568695601
|
|
NM_021628.3(ALOXE3):c.1937_1944del (p.Ser646fs)
|
rs1979042162
|
|
NM_021628.3(ALOXE3):c.1954C>T (p.Gln652Ter)
|
rs1163280866
|
|
NM_021628.3(ALOXE3):c.306T>A (p.Tyr102Ter)
|
rs1568005543
|
|
NM_021628.3(ALOXE3):c.308A>C (p.Gln103Pro)
|
rs1980629564
|
|
NM_021628.3(ALOXE3):c.327C>A (p.Cys109Ter)
|
rs1980627156
|
|
NM_021628.3(ALOXE3):c.353-1G>C
|
rs1980522554
|
|
NM_021628.3(ALOXE3):c.38_41del (p.Pro12_Tyr13insTer)
|
rs769980324
|
|
NM_021628.3(ALOXE3):c.57_63del (p.Asp20fs)
|
rs1980748884
|
|
NM_021628.3(ALOXE3):c.631C>T (p.Arg211Ter)
|
rs141340759
|
|
NM_021628.3(ALOXE3):c.758del (p.Phe253fs)
|
rs1980145171
|
|
NM_021628.3(ALOXE3):c.833A>G (p.Tyr278Cys)
|
rs1980084767
|
|
NM_021628.3(ALOXE3):c.834C>A (p.Tyr278Ter)
|
rs765682032
|
|
NM_021628.3(ALOXE3):c.842G>T (p.Gly281Val)
|
rs786205120
|
|
NM_021628.3(ALOXE3):c.957G>A (p.Glu319=)
|
rs1427770703
|
|
NM_021728.4(OTX2):c.698del (p.Asn233fs)
|
rs2139528052
|
|
NM_021800.3(DNAJC12):c.187A>T (p.Lys63Ter)
|
rs761235755
|
|
NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter)
|
rs569240271
|
|
NM_021800.3(DNAJC12):c.215G>C (p.Arg72Pro)
|
rs1035794099
|
|
NM_021800.3(DNAJC12):c.298-2A>C
|
rs1841794857
|
|
NM_021800.3(DNAJC12):c.298-968_503-2603del
|
|
|
NM_021800.3(DNAJC12):c.309G>T (p.Trp103Cys)
|
rs1841794635
|
|
NM_021800.3(DNAJC12):c.502+1G>C
|
rs755829473
|
|
NM_021800.3(DNAJC12):c.58_59del (p.Gly20fs)
|
rs1589052989
|
|
NM_021800.3(DNAJC12):c.596G>T (p.Ter199Leu)
|
rs1273776043
|
|
NM_021828.5(HPSE2):c.1628A>T (p.Asn543Ile)
|
rs397515452
|
|
NM_021828.5(HPSE2):c.241_242del (p.Leu81fs)
|
rs1469962264
|
|
NM_021828.5(HPSE2):c.429T>A (p.Tyr143Ter)
|
rs2133951833
|
|
NM_021828.5(HPSE2):c.57dup (p.Ala20fs)
|
rs778121647
|
|
NM_021828.5(HPSE2):c.902T>A (p.Leu301Ter)
|
rs2134250333
|
|
NM_021828.5:c.1099-4166_1320+840delins23
|
|
|
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)
|
rs28937887
|
|
NM_021830.5(TWNK):c.1729_1732del (p.Ala577fs)
|
|
|
NM_021830.5(TWNK):c.333del (p.Leu112fs)
|
rs886037832
|
|
NM_021830.5(TWNK):c.49del (p.Leu17fs)
|
rs779142717
|
|
NM_021830.5(TWNK):c.874C>A (p.Pro292Thr)
|
rs759603316
|
|
NM_021942.6(TRAPPC11):c.1051C>T (p.Gln351Ter)
|
rs2111348673
|
|
NM_021942.6(TRAPPC11):c.1131del (p.Asn378fs)
|
|
|
NM_021942.6(TRAPPC11):c.1291_1297del (p.Glu430_Ile431insTer)
|
rs1414226750
|
|
NM_021942.6(TRAPPC11):c.1348C>T (p.Arg450Ter)
|
|
|
NM_021942.6(TRAPPC11):c.1381G>T (p.Glu461Ter)
|
rs2111363477
|
|
NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter)
|
rs150331292
|
|
NM_021942.6(TRAPPC11):c.1466G>A (p.Trp489Ter)
|
rs1735877322
|
|
NM_021942.6(TRAPPC11):c.1522C>T (p.Gln508Ter)
|
|
|
NM_021942.6(TRAPPC11):c.1568-1G>T
|
rs1180079162
|
|
NM_021942.6(TRAPPC11):c.1702C>T (p.Arg568Ter)
|
|
|
NM_021942.6(TRAPPC11):c.171_174dup (p.Asp59delinsArgTer)
|
|
|
NM_021942.6(TRAPPC11):c.1816C>T (p.Gln606Ter)
|
|
|
NM_021942.6(TRAPPC11):c.1893+3A>G
|
rs886041053
|
|
NM_021942.6(TRAPPC11):c.2168dup (p.Lys724fs)
|
rs1554009901
|
|
NM_021942.6(TRAPPC11):c.2173del (p.Arg725fs)
|
|
|
NM_021942.6(TRAPPC11):c.2281dup (p.Glu761fs)
|
rs2111067026
|
|
NM_021942.6(TRAPPC11):c.2389C>T (p.Gln797Ter)
|
rs2111068100
|
|
NM_021942.6(TRAPPC11):c.2625del (p.His875fs)
|
rs1736442342
|
|
NM_021942.6(TRAPPC11):c.2958G>A (p.Trp986Ter)
|
|
|
NM_021942.6(TRAPPC11):c.3173_3180del (p.Phe1058fs)
|
rs1400419850
|
|
NM_021942.6(TRAPPC11):c.370del (p.Val124fs)
|
|
|
NM_021942.6(TRAPPC11):c.371_374del (p.Val124fs)
|
rs769785004
|
|
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs)
|
rs759415592
|
|
NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs)
|
rs771717941
|
|
NM_021942.6(TRAPPC11):c.630_631del (p.His210fs)
|
rs1735328958
|
|
NM_021942.6(TRAPPC11):c.661-1G>T
|
rs886041052
|
|
NM_021942.6(TRAPPC11):c.666_669del (p.Phe223fs)
|
|
|
NM_021942.6(TRAPPC11):c.725del (p.Asn242fs)
|
|
|
NM_021942.6(TRAPPC11):c.886C>T (p.Arg296Ter)
|
|
|
NM_021942.6(TRAPPC11):c.913_914del (p.Lys305fs)
|
|
|
NM_021954.4(GJA3):c.56C>T (p.Thr19Met)
|
rs1114167307
|
|
NM_021956.5(GRIK2):c.592C>T (p.Arg198Ter)
|
rs749995448
|
|
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)
|
rs397509422
|
|
NM_021971.4(GMPPB):c.1039_1042dup (p.Ser348Ter)
|
rs1210040661
|
|
NM_021971.4(GMPPB):c.1051_1054dup (p.Ser352Ter)
|
|
|
NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter)
|
rs1348189028
|
|
NM_021971.4(GMPPB):c.132_141del (p.Gly45fs)
|
|
|
NM_021971.4(GMPPB):c.225del (p.Ser76fs)
|
|
|
NM_021971.4(GMPPB):c.271_283del (p.Ala91fs)
|
rs1191822017
|
|
NM_021971.4(GMPPB):c.308C>T (p.Pro103Leu)
|
rs875989851
|
|
NM_021971.4(GMPPB):c.358A>G (p.Met120Val)
|
rs1559697515
|
|
NM_021971.4(GMPPB):c.365_366dup (p.Phe123fs)
|
rs1553691975
|
|
NM_021971.4(GMPPB):c.458_459del (p.Thr153fs)
|
rs1553691918
|
|
NM_021971.4(GMPPB):c.618dup (p.Leu207fs)
|
|
|
NM_021971.4(GMPPB):c.640+1G>A
|
rs141588721
|
|
NM_021971.4(GMPPB):c.64C>T (p.Pro22Ser)
|
rs397509424
|
|
NM_021971.4(GMPPB):c.728_746delinsACAGA (p.Arg243fs)
|
rs2080426663
|
|
NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter)
|
rs763971677
|
|
NM_021971.4(GMPPB):c.854_855del (p.Cys285fs)
|
|
|
NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)
|
|
|
NM_021971.4(GMPPB):c.972dup (p.Val325fs)
|
|
|
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)
|
|
|
NM_022089.4(ATP13A2):c.1045_1046del (p.Ser349fs)
|
|
|
NM_022089.4(ATP13A2):c.1113del (p.His372fs)
|
rs1377055875
|
|
NM_022089.4(ATP13A2):c.1296dup (p.Ser433fs)
|
|
|
NM_022089.4(ATP13A2):c.1306+5G>A
|
rs786205056
|
|
NM_022089.4(ATP13A2):c.1378del (p.Arg460fs)
|
|
|
NM_022089.4(ATP13A2):c.1550C>T (p.Thr517Ile)
|
rs1057519291
|
|
NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)
|
|
|
NM_022089.4(ATP13A2):c.1932del (p.Ala646fs)
|
|
|
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)
|
|
|
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)
|
|
|
NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer)
|
rs2100768788
|
|
NM_022089.4(ATP13A2):c.217del (p.Val73fs)
|
|
|
NM_022089.4(ATP13A2):c.217dup (p.Val73fs)
|
|
|
NM_022089.4(ATP13A2):c.2587del (p.Val863fs)
|
|
|
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter)
|
rs1557666781
|
|
NM_022089.4(ATP13A2):c.3149TCT[1] (p.Phe1051del)
|
rs1057519290
|
|
NM_022089.4(ATP13A2):c.3153dup (p.Ser1052fs)
|
|
|
NM_022089.4(ATP13A2):c.3157_3158del (p.Leu1053fs)
|
rs1570759415
|
|
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter)
|
rs1057519289
|
|
NM_022089.4(ATP13A2):c.364C>T (p.Gln122Ter)
|
rs1057519292
|
|
NM_022089.4(ATP13A2):c.409del (p.Val137fs)
|
rs2077487643
|
|
NM_022089.4(ATP13A2):c.533_536dup (p.Gln179fs)
|
|
|
NM_022089.4(ATP13A2):c.572dup (p.Arg192fs)
|
|
|
NM_022089.4(ATP13A2):c.604del (p.His202fs)
|
|
|
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter)
|
rs1483668823
|
|
NM_022089.4(ATP13A2):c.688C>T (p.Gln230Ter)
|
rs2101042002
|
|
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
|
|
|
NM_022089.4(ATP13A2):c.965del (p.Gln322fs)
|
|
|
NM_022095.4(ZNF335):c.1399T>C (p.Cys467Arg)
|
rs1568822376
|
|
NM_022095.4(ZNF335):c.2168TCT[1] (p.Phe724del)
|
rs773283542
|
|
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs)
|
rs753460205
|
|
NM_022095.4(ZNF335):c.3014_3015insG (p.Ser1007fs)
|
rs2145359858
|
|
NM_022095.4(ZNF335):c.3332G>A (p.Arg1111His)
|
rs397514642
|
|
NM_022095.4(ZNF335):c.3787G>T (p.Glu1263Ter)
|
rs749190523
|
|
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del)
|
rs759141702
|
|
NM_022098.4(XPNPEP3):c.1040G>A (p.Trp347Ter)
|
rs2058187525
|
|
NM_022098.4(XPNPEP3):c.1357G>T (p.Gly453Cys)
|
rs267607179
|
|
NM_022098.4(XPNPEP3):c.250C>T (p.Gln84Ter)
|
|
|
NM_022098.4(XPNPEP3):c.720dup (p.Gln241fs)
|
rs2146254238
|
|
NM_022098.4(XPNPEP3):c.85C>T (p.Arg29Ter)
|
rs373917063
|
|
NM_022098.4(XPNPEP3):c.931_934del (p.Asn311fs)
|
rs2146270895
|
|
NM_022124.5(CDH23):c.337del
|
rs2132200416
|
|
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser)
|
rs1060499791
|
|
NM_022124.6(CDH23):c.1087del (p.Val363fs)
|
rs747955135
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
|
|
|
NM_022124.6(CDH23):c.1291-1G>A
|
rs2132596686
|
|
NM_022124.6(CDH23):c.1428dup (p.Thr477fs)
|
rs750803248
|
|
NM_022124.6(CDH23):c.146-1G>C
|
rs1564623280
|
|
NM_022124.6(CDH23):c.1623_1626dup (p.Thr543fs)
|
|
|
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser)
|
rs1060499792
|
|
NM_022124.6(CDH23):c.1934A>G (p.Asp645Gly)
|
rs1390562340
|
|
NM_022124.6(CDH23):c.193del (p.Leu65fs)
|
rs796051861
|
|
NM_022124.6(CDH23):c.1949dup (p.Leu651fs)
|
rs753886326
|
|
NM_022124.6(CDH23):c.1987-1G>A
|
rs1060499714
|
|
NM_022124.6(CDH23):c.2132_2136del (p.Tyr711fs)
|
rs1554856042
|
|
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)
|
rs1230303971
|
|
NM_022124.6(CDH23):c.2425G>T (p.Glu809Ter)
|
rs1039517349
|
|
NM_022124.6(CDH23):c.2878dup (p.Glu960fs)
|
|
|
NM_022124.6(CDH23):c.3076del (p.Leu1026fs)
|
|
|
NM_022124.6(CDH23):c.3181G>A (p.Glu1061Lys)
|
rs1060499793
|
|
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)
|
rs866435331
|
|
NM_022124.6(CDH23):c.3353del (p.Gly1118fs)
|
rs2132760607
|
|
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter)
|
rs397517323
|
|
NM_022124.6(CDH23):c.3579+1G>A
|
rs1564759653
|
|
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.4210-2A>G
|
rs557620034
|
|
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)
|
rs121908347
|
|
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs)
|
rs759981467
|
|
NM_022124.6(CDH23):c.4877A>C (p.Asp1626Ala)
|
rs1554871816
|
|
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro)
|
rs758382198
|
|
NM_022124.6(CDH23):c.5369-1G>T
|
rs1564791773
|
|
NM_022124.6(CDH23):c.5535C>A (p.Asn1845Lys)
|
rs779425775
|
|
NM_022124.6(CDH23):c.5663T>C (p.Phe1888Ser)
|
rs121908352
|
|
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)
|
rs1060499789
|
|
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter)
|
rs1564794944
|
|
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.6253+1G>A
|
rs1554874373
|
|
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter)
|
rs1564796487
|
|
NM_022124.6(CDH23):c.6449del (p.Gly2150fs)
|
rs1564796673
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
NM_022124.6(CDH23):c.6667del (p.Leu2223fs)
|
rs1554874879
|
|
NM_022124.6(CDH23):c.6712+1G>A
|
rs1554874900
|
|
NM_022124.6(CDH23):c.683A>T (p.Asp228Val)
|
rs1060499788
|
|
NM_022124.6(CDH23):c.6968del (p.Pro2323fs)
|
rs397517350
|
|
NM_022124.6(CDH23):c.7660+1G>T
|
rs1057520662
|
|
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=)
|
rs1292050472
|
|
NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser)
|
rs1362644811
|
|
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro)
|
rs1060499790
|
|
NM_022124.6(CDH23):c.8239del (p.Val2747fs)
|
rs1554877007
|
|
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter)
|
rs1841773052
|
|
NM_022124.6(CDH23):c.8_9del (p.Arg3fs)
|
|
|
NM_022124.6(CDH23):c.9077+1G>A
|
rs1841885880
|
|
NM_022124.6(CDH23):c.9129del (p.Asn3044fs)
|
rs1554877797
|
|
NM_022124.6(CDH23):c.9246_9247del (p.Phe3083fs)
|
|
|
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs)
|
rs1564808024
|
|
NM_022124.6(CDH23):c.9389_9390del (p.Pro3130fs)
|
rs2133006702
|
|
NM_022124.6(CDH23):c.945+1G>A
|
rs727502919
|
|
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs)
|
rs397517367
|
|
NM_022168.4(IFIH1):c.1009A>G (p.Arg337Gly)
|
rs587777447
|
|
NM_022168.4(IFIH1):c.1114C>T (p.Leu372Phe)
|
rs587777576
|
|
NM_022168.4(IFIH1):c.1165G>A (p.Gly389Arg)
|
rs1576227162
|
|
NM_022168.4(IFIH1):c.1178A>C (p.Asp393Ala)
|
rs587777449
|
|
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)
|
rs587777449
|
|
NM_022168.4(IFIH1):c.1331A>G (p.Glu444Gly)
|
rs1576226728
|
|
NM_022168.4(IFIH1):c.1347C>G (p.Asn449Lys)
|
rs753383954
|
|
NM_022168.4(IFIH1):c.1354G>A (p.Ala452Thr)
|
rs587777575
|
|
NM_022168.4(IFIH1):c.1465G>A (p.Ala489Thr)
|
rs1576226604
|
|
NM_022168.4(IFIH1):c.1483G>A (p.Gly495Arg)
|
rs672601336
|
|
NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter)
|
rs774888783
|
|
NM_022168.4(IFIH1):c.1747A>G (p.Ile583Val)
|
rs753599401
|
|
NM_022168.4(IFIH1):c.2156C>T (p.Ala719Val)
|
rs1576224269
|
|
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)
|
rs587777445
|
|
NM_022168.4(IFIH1):c.2317G>C (p.Glu773Gln)
|
rs201472224
|
|
NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys)
|
rs587777448
|
|
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)
|
rs587777446
|
|
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu)
|
rs587777446
|
|
NM_022168.4(IFIH1):c.2342G>A (p.Gly781Glu)
|
rs1576222845
|
|
NM_022168.4(IFIH1):c.2404A>G (p.Asn802Asp)
|
rs1576222803
|
|
NM_022168.4(IFIH1):c.2407A>T (p.Ile803Phe)
|
rs774958328
|
|
NM_022168.4(IFIH1):c.2439A>T (p.Glu813Asp)
|
rs1559810905
|
|
NM_022168.4(IFIH1):c.2471G>A (p.Arg824Lys)
|
rs1238832404
|
|
NM_022168.4(IFIH1):c.2486C>G (p.Thr829Ser)
|
rs765887304
|
|
NM_022168.4(IFIH1):c.2544T>G (p.Asp848Glu)
|
rs1576222015
|
|
NM_022168.4(IFIH1):c.2561T>A (p.Met854Lys)
|
rs138373022
|
|
NM_022168.4(IFIH1):c.2866A>G (p.Ile956Val)
|
rs1576219706
|
|
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp)
|
rs1553696482
|
|
NM_022168.4(IFIH1):c.992C>G (p.Thr331Arg)
|
rs1576229572
|
|
NM_022168.4(IFIH1):c.992C>T (p.Thr331Ile)
|
rs1576229572
|
|
NM_022336.4(EDAR):c.1024+1G>A
|
rs1553444895
|
|
NM_022336.4(EDAR):c.1024+2T>C
|
|
|
NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)
|
rs121908452
|
|
NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln)
|
rs886039564
|
|
NM_022336.4(EDAR):c.1088del (p.Thr363fs)
|
rs1574362082
|
|
NM_022336.4(EDAR):c.1089del (p.Tyr364fs)
|
rs1558793736
|
|
NM_022336.4(EDAR):c.1097_1098del (p.Asn365_Ser366insTer)
|
rs2105371772
|
|
NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter)
|
rs886039348
|
|
NM_022336.4(EDAR):c.1151_1154dup (p.Asp386fs)
|
rs2105371643
|
|
NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr)
|
rs917638291
|
|
NM_022336.4(EDAR):c.1169del (p.Gly390fs)
|
rs1558793621
|
|
NM_022336.4(EDAR):c.1169dup (p.Met391fs)
|
rs1558793621
|
|
NM_022336.4(EDAR):c.1193_1194del (p.Leu397_Phe398insTer)
|
rs1553443360
|
|
NM_022336.4(EDAR):c.1208C>T (p.Thr403Met)
|
rs1696610832
|
|
NM_022336.4(EDAR):c.1214G>A (p.Gly405Asp)
|
rs1696610594
|
|
NM_022336.4(EDAR):c.1214G>C (p.Gly405Ala)
|
rs1696610594
|
|
NM_022336.4(EDAR):c.1218C>G (p.Tyr406Ter)
|
|
|
NM_022336.4(EDAR):c.1221del (p.Ser407fs)
|
|
|
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)
|
rs121908453
|
|
NM_022336.4(EDAR):c.1280T>C (p.Leu427Ser)
|
|
|
NM_022336.4(EDAR):c.1282T>C (p.Cys428Arg)
|
|
|
NM_022336.4(EDAR):c.1292T>C (p.Ile431Thr)
|
|
|
NM_022336.4(EDAR):c.1297G>T (p.Glu433Ter)
|
|
|
NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly)
|
rs773885029
|
|
NM_022336.4(EDAR):c.204del (p.Tyr69fs)
|
rs1697322263
|
|
NM_022336.4(EDAR):c.207delinsTT (p.Gly70fs)
|
rs1558814135
|
|
NM_022336.4(EDAR):c.278G>C (p.Cys93Ser)
|
rs1553448320
|
|
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)
|
rs557166582
|
|
NM_022336.4(EDAR):c.293G>A (p.Arg98Gln)
|
rs144473052
|
|
NM_022336.4(EDAR):c.51+1G>A
|
rs797044435
|
|
NM_022336.4(EDAR):c.52-25_52-8del
|
rs1558814967
|
|
NM_022336.4(EDAR):c.641dup (p.Pro215fs)
|
|
|
NM_022336.4(EDAR):c.719_722del (p.Lys240fs)
|
rs797044436
|
|
NM_022336.4(EDAR):c.73C>T (p.Arg25Ter)
|
|
|
NM_022336.4(EDAR):c.803+1G>A
|
rs797044437
|
|
NM_022336.4(EDAR):c.931del (p.Glu311fs)
|
|
|
NM_022336.4(EDAR):c.93C>A (p.Cys31Ter)
|
rs749688157
|
|
NM_022336.4(EDAR):c.964-1G>A
|
rs2105390253
|
|
NM_022336.4(EDAR):c.979A>T (p.Lys327Ter)
|
rs1696805876
|
|
NM_022361.5(POPDC3):c.651A>T (p.Leu217Phe)
|
rs1054547392
|
|
NM_022464.5(SIL1):c.1029+1G>A
|
|
|
NM_022464.5(SIL1):c.1030-18G>A
|
|
|
NM_022464.5(SIL1):c.1035del (p.Phe345fs)
|
|
|
NM_022464.5(SIL1):c.1117del (p.Leu373fs)
|
|
|
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter)
|
rs119456966
|
|
NM_022464.5(SIL1):c.1321G>T (p.Glu441Ter)
|
|
|
NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)
|
|
|
NM_022464.5(SIL1):c.195_217del (p.Glu65fs)
|
|
|
NM_022464.5(SIL1):c.212dup (p.His71fs)
|
|
|
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
|
|
|
NM_022464.5(SIL1):c.506_509dup (p.Asp170fs)
|
|
|
NM_022464.5(SIL1):c.603_607del (p.Glu201fs)
|
|
|
NM_022464.5(SIL1):c.645+1G>A
|
|
|
NM_022464.5(SIL1):c.645+2T>C
|
|
|
NM_022464.5(SIL1):c.685dup (p.Gln229fs)
|
|
|
NM_022464.5(SIL1):c.767+1G>A
|
|
|
NM_022464.5(SIL1):c.88del (p.Leu30fs)
|
|
|
NM_022464.5(SIL1):c.936del (p.Leu313fs)
|
|
|
NM_022464.5(SIL1):c.936dup (p.Leu313fs)
|
|
|
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
|
|
|
NM_022464.5:c.454-6721_768-23561del
|
|
|
NM_022482.5(GZF1):c.1054dup (p.Thr352fs)
|
rs1555786729
|
|
NM_022482.5(GZF1):c.1440del (p.His481fs)
|
rs1210751666
|
|
NM_022482.5(GZF1):c.1451_1452del (p.Cys484fs)
|
rs2123057775
|
|
NM_022482.5(GZF1):c.865G>T (p.Glu289Ter)
|
rs1555786618
|
|
NM_022772.4(EPS8L2):c.1014del (p.Ser339fs)
|
rs1554952443
|
|
NM_022772.4(EPS8L2):c.1430dup (p.Val478fs)
|
rs758700198
|
|
NM_022772.4(EPS8L2):c.148_149insGGACA (p.Ser50fs)
|
rs2133499883
|
|
NM_022772.4(EPS8L2):c.738del (p.Val247fs)
|
rs1554952193
|
|
NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter)
|
rs887346658
|
|
NM_022773.4(LMF1):c.1317C>G (p.Tyr439Ter)
|
rs121909397
|
|
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr)
|
rs1641970512
|
|
NM_022787.4(NMNAT1):c.[196C>T];[709C>T]
|
|
|
NM_022787.4(NMNAT1):c.[275G>A];[709C>T]
|
|
|
NM_022834.5(VWA1):c.252del (p.Glu85fs)
|
rs767263669
|
|
NM_022834.5(VWA1):c.62_71del (p.Gly21fs)
|
rs749383814
|
|
NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)
|
rs749383814
|
|
NM_022834.5(VWA1):c.879del (p.Arg293fs)
|
rs746212067
|
|
NM_022834.5(VWA1):c.94C>T (p.Arg32Ter)
|
rs762573767
|
|
NM_023077.3(COA7):c.17A>G (p.Asp6Gly)
|
rs780572767
|
|
NM_023077.3(COA7):c.247+1G>T
|
rs1197945739
|
|
NM_023077.3(COA7):c.431del (p.Gly144fs)
|
rs1558102464
|
|
NM_023077.3(COA7):c.446G>T (p.Ser149Ile)
|
rs1558102448
|
|
NM_024009.3(GJB3):c.421A>G (p.Ile141Val)
|
rs74315320
|
|
NM_024009.3(GJB3):c.421_423del (p.Ile141del)
|
rs770247378
|
|
NM_024009.3(GJB3):c.8G>A (p.Trp3Ter)
|
rs1557659237
|
|
NM_024022.4:c.1180_1187delinsN1234
|
|
|
NM_024057.4(NUP37):c.153_156+3del
|
rs770156086
|
|
NM_024057.4(NUP37):c.225dup (p.Asp76Ter)
|
rs1309880692
|
|
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.126_145del (p.Leu43fs)
|
rs886041058
|
|
NM_024298.5(MBOAT7):c.423del (p.Leu142fs)
|
rs886041059
|
|
NM_024298.5(MBOAT7):c.604G>C (p.Gly202Arg)
|
|
|
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)
|
rs1264222654
|
|
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del)
|
rs750035706
|
|
NM_024298.5(MBOAT7):c.820_826del (p.Gly274fs)
|
rs886041061
|
|
NM_024298.5(MBOAT7):c.854+1G>C
|
rs886041060
|
|
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)
|
rs754403441
|
|
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs)
|
rs748087383
|
|
NM_024301.5(FKRP):c.1267del (p.Arg423fs)
|
rs886044083
|
|
NM_024301.5(FKRP):c.1306_1307dup (p.Gln437fs)
|
|
|
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)
|
rs28937903
|
|
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)
|
rs1290836394
|
|
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)
|
rs28937905
|
|
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)
|
rs886042506
|
|
NM_024301.5(FKRP):c.387_390dup (p.Asp131delinsThrTer)
|
rs587777823
|
|
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp)
|
rs104894690
|
|
NM_024301.5(FKRP):c.764G>A (p.Trp255Ter)
|
rs104894689
|
|
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)
|
rs765885747
|
|
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)
|
rs398124395
|
|
NM_024301.5(FKRP):c.948del (p.Cys317fs)
|
rs748798133
|
|
NM_024301.5(FKRP):c.960_970del (p.Ala321fs)
|
rs1599937963
|
|
NM_024417.5(FDXR):c.1255C>T (p.Gln419Ter)
|
rs1313895172
|
|
NM_024417.5(FDXR):c.1429G>A (p.Glu477Lys)
|
rs997026784
|
|
NM_024417.5(FDXR):c.332T>C (p.Val111Ala)
|
|
|
NM_024417.5(FDXR):c.564_575del (p.Leu189_Ala192del)
|
|
|
NM_024417.5(FDXR):c.643C>G (p.Leu215Val)
|
rs1555620021
|
|
NM_024570.4(RNASEH2B):c.121del (p.Val41fs)
|
rs1452451283
|
|
NM_024570.4(RNASEH2B):c.129dup (p.Cys44fs)
|
rs2137925083
|
|
NM_024570.4(RNASEH2B):c.136+1del
|
rs75186889
|
|
NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter)
|
rs2137952274
|
|
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)
|
rs786205483
|
|
NM_024570.4(RNASEH2B):c.476del (p.Ser159fs)
|
rs2137982729
|
|
NM_024570.4(RNASEH2B):c.47_48dup (p.Val17fs)
|
|
|
NM_024570.4(RNASEH2B):c.491dup (p.Leu164fs)
|
rs1951857498
|
|
NM_024570.4(RNASEH2B):c.4del (p.Ala2fs)
|
rs2137866137
|
|
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs)
|
rs1085307091
|
|
NM_024570.4(RNASEH2B):c.509dup (p.Val171fs)
|
|
|
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)
|
rs74555752
|
|
NM_024570.4(RNASEH2B):c.63del (p.Glu22fs)
|
rs2137866660
|
|
NM_024570.4(RNASEH2B):c.648del (p.Ser217fs)
|
|
|
NM_024570.4(RNASEH2B):c.69T>A (p.Tyr23Ter)
|
|
|
NM_024570.4(RNASEH2B):c.737C>A (p.Ser246Ter)
|
|
|
NM_024570.4(RNASEH2B):c.83C>G (p.Ser28Ter)
|
|
|
NM_024580.6(EFL1):c.1514T>C (p.Phe505Ser)
|
rs763132789
|
|
NM_024580.6(EFL1):c.2260C>T (p.Arg754Ter)
|
rs1330065864
|
|
NM_024580.6(EFL1):c.2478dup (p.Gly827fs)
|
rs1380341628
|
|
NM_024580.6(EFL1):c.2647T>G (p.Cys883Gly)
|
rs2141228362
|
|
NM_024592.5(SRD5A3):c.204dup (p.Phe69fs)
|
rs869320736
|
|
NM_024596.5(MCPH1):c.147C>G (p.His49Gln)
|
rs1488084787
|
|
NM_024596.5(MCPH1):c.22+2_22+4del
|
rs1554471681
|
|
NM_024596.5(MCPH1):c.2404G>T (p.Gly802Ter)
|
|
|
NM_024596.5(MCPH1):c.2453-1G>C
|
rs587783739
|
|
NM_024596.5(MCPH1):c.321dup (p.Arg108fs)
|
rs759663956
|
|
NM_024596.5(MCPH1):c.427dup (p.Thr143fs)
|
rs199422125
|
|
NM_024596.5(MCPH1):c.477del (p.Ser159_Leu160insTer)
|
|
|
NM_024596.5(MCPH1):c.566dup (p.Asn189fs)
|
rs753597039
|
|
NM_024596.5(MCPH1):c.586del (p.Gln196fs)
|
rs1803595754
|
|
NM_024596.5(MCPH1):c.698C>A (p.Ser233Ter)
|
|
|
NM_024640.4(YRDC):c.251C>T (p.Ala84Val)
|
rs1646752498
|
|
NM_024640.4(YRDC):c.662T>C (p.Ile221Thr)
|
rs2148390396
|
|
NM_024640.4(YRDC):c.721_724del (p.Val241fs)
|
rs747256043
|
|
NM_024640.4(YRDC):c.791TCC[1] (p.Leu265del)
|
rs1646718218
|
|
NM_024649.4(BBS1):c.1111-?_1695+?del
|
|
|
NM_024649.4(BBS1):c.592-?_830+?del
|
|
|
NM_024649.4:c.(159+1_160-1)_(1110+1_1111-1)del
|
|
|
NM_024649.4:c.1214_1215ins[MT113356.1:g.1_2409]
|
|
|
NM_024649.4:c.160-?_1110+?del
|
|
|
NM_024649.5(BBS1):c.-3_37del (p.Met1fs)
|
rs113994178
|
|
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter)
|
rs869025205
|
|
NM_024649.5(BBS1):c.1025dup (p.Leu343fs)
|
rs2134797289
|
|
NM_024649.5(BBS1):c.1035_1038del (p.Val346fs)
|
|
|
NM_024649.5(BBS1):c.103dup (p.His35fs)
|
|
|
NM_024649.5(BBS1):c.1072del (p.Tyr358fs)
|
rs1057516533
|
|
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
|
|
|
NM_024649.5(BBS1):c.1110+3G>C
|
rs762276925
|
|
NM_024649.5(BBS1):c.1119dup (p.Thr374fs)
|
|
|
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg)
|
rs1565287512
|
|
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)
|
rs786204701
|
|
NM_024649.5(BBS1):c.1214_1215insSVA
|
|
|
NM_024649.5(BBS1):c.1232_1235del (p.Gly411fs)
|
rs1555049194
|
|
NM_024649.5(BBS1):c.1235del (p.Gly412fs)
|
rs1856517666
|
|
NM_024649.5(BBS1):c.124+1G>A
|
rs1057516449
|
|
NM_024649.5(BBS1):c.124+1G>C
|
rs1057516449
|
|
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)
|
rs1060503690
|
|
NM_024649.5(BBS1):c.1243del (p.Val415fs)
|
rs1590772920
|
|
NM_024649.5(BBS1):c.1261C>T (p.Gln421Ter)
|
rs1856520165
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.1285dup (p.Arg429fs)
|
rs1565287921
|
|
NM_024649.5(BBS1):c.1340-1G>T
|
rs1555049893
|
|
NM_024649.5(BBS1):c.1340-2A>G
|
rs113994180
|
|
NM_024649.5(BBS1):c.1383dup (p.Arg462fs)
|
|
|
NM_024649.5(BBS1):c.1385_1401dup (p.Leu468fs)
|
rs1166459319
|
|
NM_024649.5(BBS1):c.1389_1405dup (p.Gln469fs)
|
|
|
NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter)
|
|
|
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter)
|
rs1565289799
|
|
NM_024649.5(BBS1):c.1405del (p.Gln469fs)
|
|
|
NM_024649.5(BBS1):c.1424dup (p.Ser476fs)
|
rs886039798
|
|
NM_024649.5(BBS1):c.1432dup (p.Leu478fs)
|
|
|
NM_024649.5(BBS1):c.1450G>T (p.Glu484Ter)
|
|
|
NM_024649.5(BBS1):c.145del (p.Asp49fs)
|
rs1855937296
|
|
NM_024649.5(BBS1):c.1473+2T>C
|
rs1856699646
|
|
NM_024649.5(BBS1):c.1491del (p.Thr498fs)
|
rs2134836723
|
|
NM_024649.5(BBS1):c.1516C>T (p.Gln506Ter)
|
rs2134836882
|
|
NM_024649.5(BBS1):c.1564del (p.Leu522fs)
|
rs2134837160
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
NM_024649.5(BBS1):c.158dup (p.Leu54fs)
|
rs1313590454
|
|
NM_024649.5(BBS1):c.1606A>T (p.Lys536Ter)
|
|
|
NM_024649.5(BBS1):c.1614del (p.Leu539fs)
|
rs1856785950
|
|
NM_024649.5(BBS1):c.1642del (p.Leu548fs)
|
rs1555050404
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
|
NM_024649.5(BBS1):c.1646del (p.Glu549fs)
|
|
|
NM_024649.5(BBS1):c.1657G>T (p.Glu553Ter)
|
rs1856788934
|
|
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg)
|
rs1565291081
|
|
NM_024649.5(BBS1):c.1695+1G>A
|
rs2134841394
|
|
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)
|
rs1434577015
|
|
NM_024649.5(BBS1):c.17dup (p.Ser7fs)
|
rs1166022838
|
|
NM_024649.5(BBS1):c.1A>G (p.Met1Val)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.1A>T (p.Met1Leu)
|
rs1306821707
|
|
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter)
|
rs1012901050
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
NM_024649.5(BBS1):c.235G>T (p.Glu79Ter)
|
rs138744839
|
|
NM_024649.5(BBS1):c.2T>C (p.Met1Thr)
|
|
|
NM_024649.5(BBS1):c.319dup (p.Ala107fs)
|
rs1856010064
|
|
NM_024649.5(BBS1):c.331del (p.Cys111fs)
|
|
|
NM_024649.5(BBS1):c.339del (p.Val112_Tyr113insTer)
|
|
|
NM_024649.5(BBS1):c.345dup (p.Lys116Ter)
|
rs1555046611
|
|
NM_024649.5(BBS1):c.346_347dup (p.Asn117fs)
|
|
|
NM_024649.5(BBS1):c.356_357insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATCTCAG (p.Arg119_Pro120insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter)
|
rs1856010874
|
|
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter)
|
rs2134771570
|
|
NM_024649.5(BBS1):c.3G>A (p.Met1Ile)
|
|
|
NM_024649.5(BBS1):c.417G>A (p.Trp139Ter)
|
rs1856011993
|
|
NM_024649.5(BBS1):c.421C>T (p.Gln141Ter)
|
rs2134771631
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
NM_024649.5(BBS1):c.449T>A (p.Leu150Ter)
|
|
|
NM_024649.5(BBS1):c.47+1G>T
|
rs1475257145
|
|
NM_024649.5(BBS1):c.48-1G>A
|
rs751753112
|
|
NM_024649.5(BBS1):c.48-1G>T
|
rs751753112
|
|
NM_024649.5(BBS1):c.48-2A>G
|
|
|
NM_024649.5(BBS1):c.48-3C>G
|
rs869025204
|
|
NM_024649.5(BBS1):c.480-1G>C
|
rs1057516933
|
|
NM_024649.5(BBS1):c.526C>T (p.Gln176Ter)
|
|
|
NM_024649.5(BBS1):c.573dup (p.Asn192fs)
|
|
|
NM_024649.5(BBS1):c.589C>T (p.Gln197Ter)
|
rs777143614
|
|
NM_024649.5(BBS1):c.595_598del (p.Val199fs)
|
rs1555047409
|
|
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer)
|
rs2134780429
|
|
NM_024649.5(BBS1):c.667del (p.Thr223fs)
|
|
|
NM_024649.5(BBS1):c.688del (p.Val230fs)
|
rs1856141939
|
|
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)
|
rs778850233
|
|
NM_024649.5(BBS1):c.690dup (p.Leu231fs)
|
|
|
NM_024649.5(BBS1):c.71dup (p.Leu24fs)
|
rs1855932012
|
|
NM_024649.5(BBS1):c.723+2T>G
|
|
|
NM_024649.5(BBS1):c.724-8_726del
|
rs1856202628
|
|
NM_024649.5(BBS1):c.747_748del (p.Phe250fs)
|
|
|
NM_024649.5(BBS1):c.752del (p.Leu251fs)
|
rs2134784600
|
|
NM_024649.5(BBS1):c.767del (p.Gln256fs)
|
rs1590762360
|
|
NM_024649.5(BBS1):c.788_797dup (p.Asn269fs)
|
|
|
NM_024649.5(BBS1):c.796_805dup (p.Asn269fs)
|
|
|
NM_024649.5(BBS1):c.830+350_1110+217del
|
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332
|
|
NM_024649.5(BBS1):c.831-3C>G
|
rs113994179
|
|
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)
|
rs1057516427
|
|
NM_024649.5(BBS1):c.863T>G (p.Leu288Arg)
|
|
|
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)
|
rs1057517143
|
|
NM_024649.5(BBS1):c.887del (p.Ile296fs)
|
rs794727006
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+1G>C
|
|
|
NM_024649.5(BBS1):c.951+1G>T
|
rs746875134
|
|
NM_024649.5(BBS1):c.951+2T>A
|
|
|
NM_024649.5(BBS1):c.951+58C>T
|
rs1856346961
|
|
NM_024649.5(BBS1):c.952-1G>C
|
rs1057516661
|
|
NM_024649.5(BBS1):c.981del (p.Ala328fs)
|
rs1057516371
|
|
NM_024649.5(BBS1):c.[1285C>T];[908del]
|
|
|
NM_024678.6(NARS2):c.637G>T (p.Val213Phe)
|
rs756725793
|
|
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp)
|
rs1363498219
|
|
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro)
|
rs137852836
|
|
NM_024685.4(BBS10):c.1024dup (p.Ile342fs)
|
rs869025210
|
|
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)
|
rs587777837
|
|
NM_024685.4(BBS10):c.1064del (p.Gln355fs)
|
rs1555202654
|
|
NM_024685.4(BBS10):c.1068del (p.Ser358fs)
|
|
|
NM_024685.4(BBS10):c.1080_1081del (p.Cys360_Glu361delinsTer)
|
rs2136090624
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1122dup (p.Ile375fs)
|
rs753604828
|
|
NM_024685.4(BBS10):c.1138dup (p.Arg380fs)
|
rs1555202645
|
|
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter)
|
rs1340165752
|
|
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.118A>T (p.Lys40Ter)
|
rs202228478
|
|
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu)
|
rs199474722
|
|
NM_024685.4(BBS10):c.1225del (p.Gln409fs)
|
|
|
NM_024685.4(BBS10):c.1227del (p.Gln409fs)
|
|
|
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)
|
rs1057517156
|
|
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
|
|
|
NM_024685.4(BBS10):c.1264del (p.Arg422fs)
|
|
|
NM_024685.4(BBS10):c.1272del (p.Leu424fs)
|
|
|
NM_024685.4(BBS10):c.1290_1293del (p.Asn431fs)
|
rs2136090423
|
|
NM_024685.4(BBS10):c.1315del (p.Gln439fs)
|
rs1592491950
|
|
NM_024685.4(BBS10):c.1330del (p.Ser444fs)
|
rs2136090382
|
|
NM_024685.4(BBS10):c.1330dup (p.Ser444fs)
|
|
|
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.1338dup (p.Ile447fs)
|
|
|
NM_024685.4(BBS10):c.1341_1344del (p.Tyr448fs)
|
|
|
NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter)
|
rs778731343
|
|
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)
|
rs759682922
|
|
NM_024685.4(BBS10):c.1399del (p.Arg467fs)
|
|
|
NM_024685.4(BBS10):c.1447dup (p.Thr483fs)
|
rs759185809
|
|
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs)
|
rs786204705
|
|
NM_024685.4(BBS10):c.1452_1455del (p.Gln484fs)
|
rs1565809597
|
|
NM_024685.4(BBS10):c.1453dup (p.Thr485fs)
|
rs2136090243
|
|
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)
|
rs898539189
|
|
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)
|
rs886043841
|
|
NM_024685.4(BBS10):c.1514_1520del (p.Pro505fs)
|
rs1951758972
|
|
NM_024685.4(BBS10):c.1527dup (p.Thr510fs)
|
|
|
NM_024685.4(BBS10):c.152dup (p.Gly52fs)
|
|
|
NM_024685.4(BBS10):c.1532dup (p.Thr512fs)
|
|
|
NM_024685.4(BBS10):c.1542del (p.Asp515fs)
|
rs1057517031
|
|
NM_024685.4(BBS10):c.1547del (p.Thr516fs)
|
rs869025211
|
|
NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter)
|
rs1951758601
|
|
NM_024685.4(BBS10):c.1555_1564del (p.Thr519fs)
|
|
|
NM_024685.4(BBS10):c.1556_1557del (p.Thr519fs)
|
rs2136090126
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs)
|
rs1951757988
|
|
NM_024685.4(BBS10):c.1619T>G (p.Leu540Ter)
|
|
|
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
|
|
|
NM_024685.4(BBS10):c.1654G>T (p.Gly552Ter)
|
rs2136090024
|
|
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)
|
rs1565809478
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
|
|
|
NM_024685.4(BBS10):c.1702del (p.Thr568fs)
|
|
|
NM_024685.4(BBS10):c.1724del (p.Pro575fs)
|
rs1057516754
|
|
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)
|
rs1565809409
|
|
NM_024685.4(BBS10):c.1767C>G (p.Tyr589Ter)
|
|
|
NM_024685.4(BBS10):c.1795_1796del (p.Val599fs)
|
|
|
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
|
|
|
NM_024685.4(BBS10):c.1812dup (p.Asn605Ter)
|
|
|
NM_024685.4(BBS10):c.1814_1815del (p.Asn605fs)
|
rs2136089877
|
|
NM_024685.4(BBS10):c.1834del (p.Tyr612fs)
|
rs2136089858
|
|
NM_024685.4(BBS10):c.1856_1865del (p.Lys619fs)
|
rs869025209
|
|
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)
|
rs768385647
|
|
NM_024685.4(BBS10):c.1892_1896del (p.Met631fs)
|
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)
|
|
|
NM_024685.4(BBS10):c.1959del (p.Pro655fs)
|
rs1057516628
|
|
NM_024685.4(BBS10):c.197+1G>A
|
rs886042729
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
NM_024685.4(BBS10):c.1971_1975del (p.Tyr658fs)
|
|
|
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser)
|
rs1565810301
|
|
NM_024685.4(BBS10):c.2030del (p.Gly677fs)
|
rs1064796315
|
|
NM_024685.4(BBS10):c.2044dup (p.Met682fs)
|
rs2136089682
|
|
NM_024685.4(BBS10):c.2052del (p.Lys684fs)
|
rs1951753726
|
|
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.235del (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.253del (p.Thr85fs)
|
|
|
NM_024685.4(BBS10):c.257_261del (p.Phe86fs)
|
rs1060500996
|
|
NM_024685.4(BBS10):c.258del (p.Phe86fs)
|
rs1951773957
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.27_37del (p.Ser10fs)
|
rs1278460471
|
|
NM_024685.4(BBS10):c.306_309del (p.Asp102fs)
|
rs745497072
|
|
NM_024685.4(BBS10):c.308_312del (p.Arg103fs)
|
|
|
NM_024685.4(BBS10):c.310_311del (p.Glu104fs)
|
rs2136091244
|
|
NM_024685.4(BBS10):c.313_314del (p.Lys105fs)
|
rs2136091240
|
|
NM_024685.4(BBS10):c.32T>G (p.Val11Gly)
|
rs137852838
|
|
NM_024685.4(BBS10):c.35dup (p.Ala13fs)
|
rs2136091633
|
|
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter)
|
rs1951771573
|
|
NM_024685.4(BBS10):c.365dup (p.Asn122fs)
|
rs774095109
|
|
NM_024685.4(BBS10):c.391C>T (p.Gln131Ter)
|
rs1565810183
|
|
NM_024685.4(BBS10):c.391del (p.Gln131fs)
|
|
|
NM_024685.4(BBS10):c.39_46del (p.Ala14fs)
|
rs1555202806
|
|
NM_024685.4(BBS10):c.409C>T (p.Gln137Ter)
|
rs2136091166
|
|
NM_024685.4(BBS10):c.415C>T (p.Gln139Ter)
|
|
|
NM_024685.4(BBS10):c.439C>T (p.Gln147Ter)
|
rs199998327
|
|
NM_024685.4(BBS10):c.445dup (p.Leu149fs)
|
rs770053320
|
|
NM_024685.4(BBS10):c.448_449insAGGT (p.Ser150fs)
|
|
|
NM_024685.4(BBS10):c.455_456del (p.His152fs)
|
rs2136091120
|
|
NM_024685.4(BBS10):c.466_467del (p.Ile156fs)
|
|
|
NM_024685.4(BBS10):c.467del (p.Ile156fs)
|
rs2136091103
|
|
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
|
rs553291328
|
|
NM_024685.4(BBS10):c.482_497del (p.Lys161fs)
|
|
|
NM_024685.4(BBS10):c.483dup (p.Glu162fs)
|
|
|
NM_024685.4(BBS10):c.490dup (p.Thr164fs)
|
rs2136091086
|
|
NM_024685.4(BBS10):c.496dup (p.Cys166fs)
|
|
|
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)
|
rs1555202700
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
NM_024685.4(BBS10):c.559_561del (p.His187del)
|
rs781421232
|
|
NM_024685.4(BBS10):c.568_571del (p.Ile190fs)
|
rs1057516266
|
|
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter)
|
rs1057517184
|
|
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser)
|
rs1951767864
|
|
NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del)
|
rs1318745309
|
|
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)
|
rs756632517
|
|
NM_024685.4(BBS10):c.598A>T (p.Lys200Ter)
|
rs1951767589
|
|
NM_024685.4(BBS10):c.643_655del (p.Val214_Asp215insTer)
|
|
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695
|
|
NM_024685.4(BBS10):c.692C>G (p.Ser231Ter)
|
|
|
NM_024685.4(BBS10):c.708_711dup (p.Gly238fs)
|
|
|
NM_024685.4(BBS10):c.724del (p.Gln242fs)
|
rs1565809995
|
|
NM_024685.4(BBS10):c.725_737del (p.Gln242fs)
|
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter)
|
rs1156913215
|
|
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.805dup (p.Ser269fs)
|
|
|
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)
|
rs1476664656
|
|
NM_024685.4(BBS10):c.883A>T (p.Lys295Ter)
|
rs2136090788
|
|
NM_024685.4(BBS10):c.894_897dup (p.His300fs)
|
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)
|
rs137852837
|
|
NM_024685.4(BBS10):c.953del (p.Asp317_Leu318insTer)
|
rs2136090739
|
|
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)
|
rs758522600
|
|
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter)
|
rs1555202662
|
|
NM_024685.4(BBS10):c.999T>A (p.Cys333Ter)
|
rs1565809867
|
|
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
|
|
|
NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg)
|
rs750665609
|
|
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)
|
rs2136091654
|
|
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)
|
rs2150668444
|
|
NM_024735.5(FBXO31):c.847_852delinsA (p.Cys283fs)
|
rs587777703
|
|
NM_024753.5(TTC21B):c.1001del (p.Met334fs)
|
|
|
NM_024753.5(TTC21B):c.1007_1025del (p.Leu336fs)
|
rs2105344608
|
|
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter)
|
rs2105344578
|
|
NM_024753.5(TTC21B):c.1087G>T (p.Gly363Ter)
|
|
|
NM_024753.5(TTC21B):c.1088-1G>A
|
|
|
NM_024753.5(TTC21B):c.10C>T (p.Gln4Ter)
|
|
|
NM_024753.5(TTC21B):c.1126_1127insGT (p.Asp376fs)
|
|
|
NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter)
|
rs749794837
|
|
NM_024753.5(TTC21B):c.1162C>T (p.Gln388Ter)
|
|
|
NM_024753.5(TTC21B):c.1176_1185+1del
|
rs1686809735
|
|
NM_024753.5(TTC21B):c.1263_1266dup (p.Leu423fs)
|
rs2105343139
|
|
NM_024753.5(TTC21B):c.1320del (p.Phe440fs)
|
rs775836730
|
|
NM_024753.5(TTC21B):c.1346T>G (p.Leu449Ter)
|
rs769816345
|
|
NM_024753.5(TTC21B):c.140del (p.Thr47fs)
|
|
|
NM_024753.5(TTC21B):c.1448_1458del (p.Thr483fs)
|
|
|
NM_024753.5(TTC21B):c.1479_1482del (p.Thr494fs)
|
|
|
NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter)
|
rs199559023
|
|
NM_024753.5(TTC21B):c.1656T>A (p.Cys552Ter)
|
rs387907059
|
|
NM_024753.5(TTC21B):c.1725_1726del (p.Lys575fs)
|
|
|
NM_024753.5(TTC21B):c.1840del (p.Ser614fs)
|
|
|
NM_024753.5(TTC21B):c.1860_1863del (p.Phe620fs)
|
|
|
NM_024753.5(TTC21B):c.1942dup (p.Ser648fs)
|
rs2105324384
|
|
NM_024753.5(TTC21B):c.1947_1948del (p.Thr650fs)
|
|
|
NM_024753.5(TTC21B):c.2070del (p.Arg691fs)
|
|
|
NM_024753.5(TTC21B):c.2297_2298del (p.Leu766fs)
|
|
|
NM_024753.5(TTC21B):c.2337T>G (p.Tyr779Ter)
|
rs1559053862
|
|
NM_024753.5(TTC21B):c.244_248del (p.Lys82fs)
|
|
|
NM_024753.5(TTC21B):c.2455G>T (p.Glu819Ter)
|
|
|
NM_024753.5(TTC21B):c.2521del (p.Tyr841fs)
|
|
|
NM_024753.5(TTC21B):c.2572C>T (p.Arg858Ter)
|
rs895624584
|
|
NM_024753.5(TTC21B):c.2614C>T (p.Gln872Ter)
|
|
|
NM_024753.5(TTC21B):c.2635C>T (p.Gln879Ter)
|
|
|
NM_024753.5(TTC21B):c.264_267dupTAGA
|
rs748514860
|
|
NM_024753.5(TTC21B):c.2692C>T (p.Arg898Ter)
|
rs1685569880
|
|
NM_024753.5(TTC21B):c.2979_2982del (p.Asp994fs)
|
|
|
NM_024753.5(TTC21B):c.3044del (p.Arg1015fs)
|
rs2105292027
|
|
NM_024753.5(TTC21B):c.3045del (p.Asn1016fs)
|
rs2105292022
|
|
NM_024753.5(TTC21B):c.3076C>T (p.Gln1026Ter)
|
rs2105291990
|
|
NM_024753.5(TTC21B):c.3087del (p.Gly1030fs)
|
rs2105291970
|
|
NM_024753.5(TTC21B):c.3112G>T (p.Glu1038Ter)
|
rs2105291727
|
|
NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter)
|
|
|
NM_024753.5(TTC21B):c.3144del (p.Ala1049fs)
|
rs2105291679
|
|
NM_024753.5(TTC21B):c.3164G>A (p.Trp1055Ter)
|
rs772612775
|
|
NM_024753.5(TTC21B):c.3380dup (p.Asn1127fs)
|
|
|
NM_024753.5(TTC21B):c.3383_3384del (p.Tyr1128fs)
|
rs1553506530
|
|
NM_024753.5(TTC21B):c.3533dup (p.Asn1178fs)
|
|
|
NM_024753.5(TTC21B):c.3592_3596del (p.Lys1198fs)
|
|
|
NM_024753.5(TTC21B):c.3641_3657del (p.Asp1214fs)
|
|
|
NM_024753.5(TTC21B):c.36C>G (p.Tyr12Ter)
|
|
|
NM_024753.5(TTC21B):c.3702T>G (p.Tyr1234Ter)
|
|
|
NM_024753.5(TTC21B):c.3731_3732del (p.Glu1244fs)
|
|
|
NM_024753.5(TTC21B):c.433del (p.His145fs)
|
|
|
NM_024753.5(TTC21B):c.459del (p.Thr154fs)
|
|
|
NM_024753.5(TTC21B):c.497del (p.Lys166fs)
|
rs2105363277
|
|
NM_024753.5(TTC21B):c.913del (p.Ile305fs)
|
|
|
NM_024753.5(TTC21B):c.996C>A (p.Tyr332Ter)
|
|
|
NM_024809.5(TCTN2):c.1550dup (p.His517fs)
|
|
|
NM_024809.5(TCTN2):c.1806dup (p.Thr603fs)
|
|
|
NM_024824.5(ZC3H14):c.2204+17_2204+41del
|
rs571303442
|
|
NM_024824.5(ZC3H14):c.460C>T (p.Arg154Ter)
|
rs886037950
|
|
NM_024915.4(GRHL2):c.1258-1G>A
|
rs398123006
|
|
NM_024915.4(GRHL2):c.1609dup (p.Arg537fs)
|
rs398122997
|
|
NM_024989.4(PGAP1):c.1090-2A>G
|
rs869025581
|
|
NM_024989.4(PGAP1):c.1221-3A>G
|
rs1701868598
|
|
NM_024989.4(PGAP1):c.1394_1397del (p.Ile465fs)
|
rs781325598
|
|
NM_024989.4(PGAP1):c.1501-2A>G
|
rs1288514578
|
|
NM_024989.4(PGAP1):c.1572T>A (p.Tyr524Ter)
|
rs869025578
|
|
NM_024989.4(PGAP1):c.1867del (p.Cys623fs)
|
|
|
NM_024989.4(PGAP1):c.1952+1G>T
|
rs587777202
|
|
NM_024989.4(PGAP1):c.20del (p.Asn7fs)
|
|
|
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)
|
rs1576086299
|
|
NM_024989.4(PGAP1):c.274_276del (p.Pro92del)
|
rs869025579
|
|
NM_024989.4(PGAP1):c.275del (p.Pro92fs)
|
|
|
NM_024989.4(PGAP1):c.427C>T (p.Gln143Ter)
|
rs1410587479
|
|
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del)
|
rs587777378
|
|
NM_024989.4(PGAP1):c.776T>G (p.Leu259Ter)
|
rs1702534679
|
|
NM_024989.4(PGAP1):c.921_925del (p.Lys308fs)
|
rs869025580
|
|
NM_025009.5(CEP135):c.1376_1379del (p.Lys459fs)
|
rs777869134
|
|
NM_025009.5(CEP135):c.1473+1G>A
|
rs1085307120
|
|
NM_025009.5(CEP135):c.2930_2931del (p.Leu977fs)
|
rs1553895368
|
|
NM_025009.5(CEP135):c.3118_3121del (p.Asn1040fs)
|
rs751437333
|
|
NM_025009.5(CEP135):c.970del (p.Gln324fs)
|
rs202247811
|
|
NM_025074.7(FRAS1):c.10287del (p.Leu3428_Tyr3429insTer)
|
rs886037765
|
|
NM_025074.7(FRAS1):c.10541-1G>A
|
rs1721385740
|
|
NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter)
|
rs1006839535
|
|
NM_025074.7(FRAS1):c.10999C>T (p.Gln3667Ter)
|
rs1721821279
|
|
NM_025074.7(FRAS1):c.11158C>T (p.Gln3720Ter)
|
rs1219344385
|
|
NM_025074.7(FRAS1):c.1121G>A (p.Trp374Ter)
|
rs1727394990
|
|
NM_025074.7(FRAS1):c.11270_11273del (p.Lys3757fs)
|
rs1578380159
|
|
NM_025074.7(FRAS1):c.11473C>T (p.Gln3825Ter)
|
rs765622092
|
|
NM_025074.7(FRAS1):c.11897dup (p.Asn3967fs)
|
rs1560433104
|
|
NM_025074.7(FRAS1):c.1399+1G>A
|
rs1727490024
|
|
NM_025074.7(FRAS1):c.2376del (p.Ser793fs)
|
|
|
NM_025074.7(FRAS1):c.2692del (p.His898fs)
|
rs2110296712
|
|
NM_025074.7(FRAS1):c.285C>A (p.Cys95Ter)
|
rs1725182255
|
|
NM_025074.7(FRAS1):c.3293-2A>T
|
rs2110319166
|
|
NM_025074.7(FRAS1):c.364del (p.Glu122fs)
|
rs1560604726
|
|
NM_025074.7(FRAS1):c.3799C>T (p.Gln1267Ter)
|
rs120074158
|
|
NM_025074.7(FRAS1):c.4032dup (p.Met1345fs)
|
rs1732856311
|
|
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter)
|
rs1733155852
|
|
NM_025074.7(FRAS1):c.4271C>G (p.Ser1424Ter)
|
rs120074159
|
|
NM_025074.7(FRAS1):c.4465del (p.Leu1489fs)
|
rs1257736144
|
|
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)
|
rs775517752
|
|
NM_025074.7(FRAS1):c.5166del (p.Val1723fs)
|
rs2110390266
|
|
NM_025074.7(FRAS1):c.5169_5175del (p.Ala1724fs)
|
rs1734259370
|
|
NM_025074.7(FRAS1):c.516G>A (p.Trp172Ter)
|
rs1432850828
|
|
NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del)
|
rs730882178
|
|
NM_025074.7(FRAS1):c.5574dup (p.Ala1859fs)
|
rs753831692
|
|
NM_025074.7(FRAS1):c.5664_5665+19delinsT
|
rs886037766
|
|
NM_025074.7(FRAS1):c.570_573dup (p.Ala192fs)
|
rs1725743022
|
|
NM_025074.7(FRAS1):c.5716del (p.Ile1906fs)
|
rs1718790934
|
|
NM_025074.7(FRAS1):c.5952dup (p.Asp1985fs)
|
rs1718847595
|
|
NM_025074.7(FRAS1):c.6202A>T (p.Lys2068Ter)
|
rs1578330963
|
|
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter)
|
rs756005814
|
|
NM_025074.7(FRAS1):c.688-5T>G
|
rs775548230
|
|
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs)
|
rs730882179
|
|
NM_025074.7(FRAS1):c.7254dup (p.Glu2419fs)
|
rs2109847651
|
|
NM_025074.7(FRAS1):c.7522+1G>T
|
rs730882180
|
|
NM_025074.7(FRAS1):c.8098+1G>T
|
rs376088537
|
|
NM_025074.7(FRAS1):c.8602C>T (p.Gln2868Ter)
|
rs120074156
|
|
NM_025074.7(FRAS1):c.8922del (p.Asp2975fs)
|
|
|
NM_025074.7(FRAS1):c.9013C>T (p.Gln3005Ter)
|
rs120074157
|
|
NM_025074.7(FRAS1):c.9466G>T (p.Glu3156Ter)
|
rs1227013948
|
|
NM_025074.7(FRAS1):c.9627C>A (p.Tyr3209Ter)
|
rs377369857
|
|
NM_025077.4(TOE1):c.-4_3dup (p.Ala2fs)
|
rs1646822375
|
|
NM_025083.5(EDC3):c.161T>C (p.Phe54Ser)
|
rs1057517676
|
|
NM_025103.4(IFT74):c.371_372del (p.Gln124fs)
|
rs2131541114
|
|
NM_025114.3(CEP290):c.4438-318_7243del
|
|
|
NM_025114.4(CEP290):c.-8_2del (p.Met1fs)
|
rs2040644607
|
|
NM_025114.4(CEP290):c.1006dup (p.Glu336fs)
|
|
|
NM_025114.4(CEP290):c.102+1G>T
|
rs2040637111
|
|
NM_025114.4(CEP290):c.103-1G>T
|
rs863225188
|
|
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)
|
|
|
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)
|
rs2138021345
|
|
NM_025114.4(CEP290):c.106G>T (p.Glu36Ter)
|
|
|
NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter)
|
rs1592656929
|
|
NM_025114.4(CEP290):c.1096del (p.Met366fs)
|
|
|
NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter)
|
|
|
NM_025114.4(CEP290):c.1165A>T (p.Lys389Ter)
|
rs2138000998
|
|
NM_025114.4(CEP290):c.1189+1G>A
|
rs2039659434
|
|
NM_025114.4(CEP290):c.1189+2T>C
|
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_025114.4(CEP290):c.1225del (p.Ile409fs)
|
rs1287628446
|
|
NM_025114.4(CEP290):c.1232C>G (p.Ser411Ter)
|
|
|
NM_025114.4(CEP290):c.1247T>G (p.Leu416Ter)
|
rs1269182131
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
NM_025114.4(CEP290):c.1258dup (p.Thr420fs)
|
rs868650061
|
|
NM_025114.4(CEP290):c.1273del (p.Arg425fs)
|
|
|
NM_025114.4(CEP290):c.1296_1299dup (p.Ala434Ter)
|
|
|
NM_025114.4(CEP290):c.1318G>T (p.Glu440Ter)
|
rs2137917114
|
|
NM_025114.4(CEP290):c.1338del (p.Arg447fs)
|
rs2039364798
|
|
NM_025114.4(CEP290):c.133del (p.Gln45fs)
|
|
|
NM_025114.4(CEP290):c.1347dup (p.Asp450fs)
|
rs774490795
|
|
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)
|
rs1437841365
|
|
NM_025114.4(CEP290):c.1393del (p.Glu464_Ile465insTer)
|
rs2039321844
|
|
NM_025114.4(CEP290):c.1400del (p.Asn467fs)
|
rs2137903965
|
|
NM_025114.4(CEP290):c.1405A>T (p.Lys469Ter)
|
rs1361189290
|
|
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)
|
rs771266705
|
|
NM_025114.4(CEP290):c.1435_1436del (p.Glu478_Ile479insTer)
|
|
|
NM_025114.4(CEP290):c.1451del (p.Lys484fs)
|
rs386834149
|
|
NM_025114.4(CEP290):c.1480del (p.Ser494fs)
|
|
|
NM_025114.4(CEP290):c.1501G>T (p.Glu501Ter)
|
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1518dup (p.Val507fs)
|
|
|
NM_025114.4(CEP290):c.1550dup (p.Leu517fs)
|
rs62640579
|
|
NM_025114.4(CEP290):c.1585C>T (p.Gln529Ter)
|
|
|
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)
|
rs1465414886
|
|
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer)
|
|
|
NM_025114.4(CEP290):c.1623+1G>A
|
rs863225186
|
|
NM_025114.4(CEP290):c.1623+5G>A
|
rs1555222073
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
NM_025114.4(CEP290):c.1665_1666del (p.Lys555fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1668del (p.Arg557fs)
|
rs2039204524
|
|
NM_025114.4(CEP290):c.166C>T (p.Gln56Ter)
|
rs1592706963
|
|
NM_025114.4(CEP290):c.1675del (p.Met559fs)
|
rs2137868361
|
|
NM_025114.4(CEP290):c.167dup (p.Ser57fs)
|
rs2138297703
|
|
NM_025114.4(CEP290):c.1681C>T (p.Gln561Ter)
|
|
|
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter)
|
rs1272411609
|
|
NM_025114.4(CEP290):c.1711+2T>A
|
|
|
NM_025114.4(CEP290):c.1750del (p.Ser584fs)
|
rs780954447
|
|
NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter)
|
rs867094910
|
|
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)
|
|
|
NM_025114.4(CEP290):c.1790_1805del (p.Leu596_Leu597insTer)
|
|
|
NM_025114.4(CEP290):c.1798A>T (p.Lys600Ter)
|
rs2137836218
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.180+1G>T
|
|
|
NM_025114.4(CEP290):c.1802del (p.Asn601fs)
|
|
|
NM_025114.4(CEP290):c.1805del (p.Met602fs)
|
|
|
NM_025114.4(CEP290):c.180G>A (p.Lys60=)
|
|
|
NM_025114.4(CEP290):c.1816C>T (p.Gln606Ter)
|
|
|
NM_025114.4(CEP290):c.1830del (p.Glu610fs)
|
rs992032116
|
|
NM_025114.4(CEP290):c.1844_1845dup (p.Leu616fs)
|
|
|
NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter)
|
rs1203763812
|
|
NM_025114.4(CEP290):c.1860_1861del (p.Asp622fs)
|
rs386834151
|
|
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs)
|
rs766608755
|
|
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs)
|
rs1033594764
|
|
NM_025114.4(CEP290):c.190C>T (p.Gln64Ter)
|
rs1166981120
|
|
NM_025114.4(CEP290):c.1910-11T>G
|
rs1555220638
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter)
|
rs2038919221
|
|
NM_025114.4(CEP290):c.1989dup (p.Asp664fs)
|
|
|
NM_025114.4(CEP290):c.1992del (p.Pro665fs)
|
rs770175184
|
|
NM_025114.4(CEP290):c.1A>G (p.Met1Val)
|
rs2040644756
|
|
NM_025114.4(CEP290):c.2047_2050del (p.Val683fs)
|
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
NM_025114.4(CEP290):c.2112del (p.Val705fs)
|
rs863225183
|
|
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs)
|
rs62640580
|
|
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter)
|
rs1440259390
|
|
NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)
|
|
|
NM_025114.4(CEP290):c.2149C>T (p.Gln717Ter)
|
|
|
NM_025114.4(CEP290):c.214G>T (p.Glu72Ter)
|
|
|
NM_025114.4(CEP290):c.2191C>T (p.Gln731Ter)
|
|
|
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)
|
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer)
|
rs2137720951
|
|
NM_025114.4(CEP290):c.2218_2222del (p.Ile740fs)
|
rs2137713030
|
|
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)
|
rs779010679
|
|
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs)
|
rs587783010
|
|
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)
|
rs753884599
|
|
NM_025114.4(CEP290):c.2254C>T (p.Gln752Ter)
|
rs2137711696
|
|
NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter)
|
|
|
NM_025114.4(CEP290):c.2268_2284del (p.Asn757_Val758insTer)
|
|
|
NM_025114.4(CEP290):c.2317dup (p.Ser773fs)
|
rs1555218898
|
|
NM_025114.4(CEP290):c.2340_2341del (p.Gln780_Asn781insTer)
|
|
|
NM_025114.4(CEP290):c.2368-1G>T
|
rs2137665576
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.2406del (p.Asp803fs)
|
|
|
NM_025114.4(CEP290):c.2433del (p.Lys811fs)
|
rs2137663442
|
|
NM_025114.4(CEP290):c.2455C>T (p.Gln819Ter)
|
|
|
NM_025114.4(CEP290):c.2484-2A>C
|
|
|
NM_025114.4(CEP290):c.2497del (p.Trp833fs)
|
rs2137624524
|
|
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter)
|
rs2137624440
|
|
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs)
|
rs1223251937
|
|
NM_025114.4(CEP290):c.254del (p.Asn85fs)
|
|
|
NM_025114.4(CEP290):c.254dup (p.Asn85fs)
|
rs2138259100
|
|
NM_025114.4(CEP290):c.2554C>T (p.Gln852Ter)
|
|
|
NM_025114.4(CEP290):c.2557C>T (p.Gln853Ter)
|
rs2038335853
|
|
NM_025114.4(CEP290):c.2567dup (p.Val858fs)
|
|
|
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)
|
|
|
NM_025114.4(CEP290):c.256_259del (p.Asn85_Gln86insTer)
|
rs2138258864
|
|
NM_025114.4(CEP290):c.2571del (p.Lys857_Val858insTer)
|
|
|
NM_025114.4(CEP290):c.2578G>T (p.Glu860Ter)
|
|
|
NM_025114.4(CEP290):c.2587-1G>A
|
|
|
NM_025114.4(CEP290):c.2587-1G>T
|
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025114.4(CEP290):c.2615C>A (p.Ser872Ter)
|
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.2668C>T (p.Gln890Ter)
|
rs886044332
|
|
NM_025114.4(CEP290):c.2668del (p.Gln890fs)
|
|
|
NM_025114.4(CEP290):c.2682del (p.Lys894fs)
|
|
|
NM_025114.4(CEP290):c.2689dup (p.Ile897fs)
|
|
|
NM_025114.4(CEP290):c.2695C>T (p.Gln899Ter)
|
|
|
NM_025114.4(CEP290):c.270_274del (p.Lys90fs)
|
|
|
NM_025114.4(CEP290):c.272_276del (p.Val91fs)
|
rs2040498071
|
|
NM_025114.4(CEP290):c.2732_2735del (p.Arg911fs)
|
rs2137614623
|
|
NM_025114.4(CEP290):c.2737G>T (p.Glu913Ter)
|
|
|
NM_025114.4(CEP290):c.2746A>T (p.Lys916Ter)
|
|
|
NM_025114.4(CEP290):c.274_280del (p.Met92fs)
|
rs2138258171
|
|
NM_025114.4(CEP290):c.2801_2802del (p.Cys934fs)
|
|
|
NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter)
|
rs1180594304
|
|
NM_025114.4(CEP290):c.2902C>T (p.Gln968Ter)
|
rs1592574519
|
|
NM_025114.4(CEP290):c.2911G>T (p.Glu971Ter)
|
rs780805963
|
|
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.2958del (p.Val987fs)
|
|
|
NM_025114.4(CEP290):c.297+1G>A
|
rs878853360
|
|
NM_025114.4(CEP290):c.297+1G>C
|
|
|
NM_025114.4(CEP290):c.297+1del
|
rs2138257533
|
|
NM_025114.4(CEP290):c.3012del (p.Glu1005fs)
|
rs1555213204
|
|
NM_025114.4(CEP290):c.3013G>T (p.Glu1005Ter)
|
rs2037478393
|
|
NM_025114.4(CEP290):c.3022G>T (p.Glu1008Ter)
|
rs2037477197
|
|
NM_025114.4(CEP290):c.3023_3024insCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAACAAGTGGA (p.Glu1008delinsAspLeuTer)
|
rs2137425453
|
|
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter)
|
rs1555212271
|
|
NM_025114.4(CEP290):c.3150dup (p.Asp1051Ter)
|
rs2137368561
|
|
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3176del (p.Ile1059fs)
|
rs863225184
|
|
NM_025114.4(CEP290):c.3178_3181del (p.Thr1060fs)
|
rs1450189463
|
|
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs)
|
rs878853362
|
|
NM_025114.4(CEP290):c.3205G>T (p.Glu1069Ter)
|
rs2137365958
|
|
NM_025114.4(CEP290):c.3205_3206delinsTG (p.Glu1069Ter)
|
rs1555212150
|
|
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs)
|
rs778407127
|
|
NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter)
|
rs886042467
|
|
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
|
rs886042467
|
|
NM_025114.4(CEP290):c.3249_3250insAA (p.Arg1084fs)
|
rs2037226237
|
|
NM_025114.4(CEP290):c.3249dup (p.Arg1084fs)
|
rs2037226237
|
|
NM_025114.4(CEP290):c.3265C>T (p.Gln1089Ter)
|
|
|
NM_025114.4(CEP290):c.3285del (p.Phe1095fs)
|
rs1017496924
|
|
NM_025114.4(CEP290):c.3286G>T (p.Glu1096Ter)
|
|
|
NM_025114.4(CEP290):c.3309G>A (p.Glu1103=)
|
|
|
NM_025114.4(CEP290):c.3310-1G>A
|
|
|
NM_025114.4(CEP290):c.3310-1_3310delinsAA
|
rs2037150824
|
|
NM_025114.4(CEP290):c.3310-2A>G
|
rs2137345150
|
|
NM_025114.4(CEP290):c.3334C>T (p.Gln1112Ter)
|
rs2137344539
|
|
NM_025114.4(CEP290):c.338T>A (p.Leu113Ter)
|
rs2040373653
|
|
NM_025114.4(CEP290):c.3390_3393del (p.Ser1131fs)
|
rs2137342973
|
|
NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)
|
|
|
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs)
|
rs770474857
|
|
NM_025114.4(CEP290):c.3451G>T (p.Glu1151Ter)
|
|
|
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.3514C>T (p.Gln1172Ter)
|
rs2036975289
|
|
NM_025114.4(CEP290):c.3520C>T (p.Gln1174Ter)
|
rs2036974151
|
|
NM_025114.4(CEP290):c.3533del (p.Lys1178fs)
|
rs2036971853
|
|
NM_025114.4(CEP290):c.355C>T (p.Gln119Ter)
|
rs2138215835
|
|
NM_025114.4(CEP290):c.3571C>T (p.Gln1191Ter)
|
|
|
NM_025114.4(CEP290):c.3573+1G>C
|
rs1339320666
|
|
NM_025114.4(CEP290):c.3573+1G>T
|
rs1339320666
|
|
NM_025114.4(CEP290):c.3573+1del
|
rs2137301783
|
|
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)
|
|
|
NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter)
|
rs372640024
|
|
NM_025114.4(CEP290):c.361G>T (p.Glu121Ter)
|
rs2138215714
|
|
NM_025114.4(CEP290):c.3633_3637del (p.Gln1211_Leu1212insTer)
|
rs2137279498
|
|
NM_025114.4(CEP290):c.3643_3652del (p.Ala1215fs)
|
|
|
NM_025114.4(CEP290):c.366del (p.Lys122fs)
|
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.3721A>T (p.Lys1241Ter)
|
|
|
NM_025114.4(CEP290):c.3730G>T (p.Glu1244Ter)
|
rs2137277291
|
|
NM_025114.4(CEP290):c.3738del (p.Glu1246fs)
|
|
|
NM_025114.4(CEP290):c.3741_3752dup (p.Tyr1251Ter)
|
|
|
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs)
|
rs2137276301
|
|
NM_025114.4(CEP290):c.3761dup (p.Leu1254fs)
|
rs750520052
|
|
NM_025114.4(CEP290):c.3777_3778del (p.Arg1259fs)
|
rs765483163
|
|
NM_025114.4(CEP290):c.3783del (p.Lys1261fs)
|
rs2036833257
|
|
NM_025114.4(CEP290):c.3786_3798del (p.His1262fs)
|
|
|
NM_025114.4(CEP290):c.3803del (p.Gln1268fs)
|
rs2036830890
|
|
NM_025114.4(CEP290):c.3808_3809del (p.Leu1270fs)
|
rs1565846034
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)
|
rs2036824785
|
|
NM_025114.4(CEP290):c.384_385del (p.Asp128fs)
|
rs1288619268
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_025114.4(CEP290):c.3884dup (p.Asn1295fs)
|
|
|
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
|
rs761907569
|
|
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)
|
rs587783016
|
|
NM_025114.4(CEP290):c.3911_3915del (p.Met1304fs)
|
|
|
NM_025114.4(CEP290):c.3917del (p.Asn1306fs)
|
|
|
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter)
|
rs2036816455
|
|
NM_025114.4(CEP290):c.3934A>T (p.Arg1312Ter)
|
rs774705706
|
|
NM_025114.4(CEP290):c.3956del (p.Leu1319fs)
|
rs2137269723
|
|
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)
|
|
|
NM_025114.4(CEP290):c.3992T>A (p.Leu1331Ter)
|
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)
|
rs1339975972
|
|
NM_025114.4(CEP290):c.4041G>A (p.Trp1347Ter)
|
rs2137251821
|
|
NM_025114.4(CEP290):c.4045_4046del (p.Met1349fs)
|
rs2036720274
|
|
NM_025114.4(CEP290):c.4057G>T (p.Glu1353Ter)
|
|
|
NM_025114.4(CEP290):c.4069C>T (p.Gln1357Ter)
|
|
|
NM_025114.4(CEP290):c.4076_4077del (p.Leu1359fs)
|
|
|
NM_025114.4(CEP290):c.4078_4081del (p.Leu1359_Lys1360insTer)
|
rs2036717675
|
|
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)
|
rs779645669
|
|
NM_025114.4(CEP290):c.4096_4099del (p.Val1366fs)
|
|
|
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs)
|
rs62640582
|
|
NM_025114.4(CEP290):c.4115_4118del (p.Ile1372fs)
|
|
|
NM_025114.4(CEP290):c.4121del (p.Tyr1374fs)
|
|
|
NM_025114.4(CEP290):c.4124T>A (p.Leu1375Ter)
|
|
|
NM_025114.4(CEP290):c.4133_4134del (p.Ile1378fs)
|
|
|
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs)
|
rs1555208870
|
|
NM_025114.4(CEP290):c.4160_4164delinsATGAACGTACATAATTTCTGAATATGAA (p.Ser1387_Ser1388delinsAsnGluArgThrTer)
|
rs2137248487
|
|
NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter)
|
rs1459653241
|
|
NM_025114.4(CEP290):c.4195-1G>T
|
rs751807811
|
|
NM_025114.4(CEP290):c.4201G>T (p.Glu1401Ter)
|
|
|
NM_025114.4(CEP290):c.420del (p.Glu141fs)
|
|
|
NM_025114.4(CEP290):c.4263del (p.Phe1421fs)
|
rs2137219551
|
|
NM_025114.4(CEP290):c.4276_4277del (p.Gln1425_Asn1426insTer)
|
rs863224523
|
|
NM_025114.4(CEP290):c.4322C>G (p.Ser1441Ter)
|
|
|
NM_025114.4(CEP290):c.4384G>T (p.Glu1462Ter)
|
|
|
NM_025114.4(CEP290):c.4384del (p.Glu1462fs)
|
rs863225182
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.4453G>T (p.Glu1485Ter)
|
|
|
NM_025114.4(CEP290):c.4535del (p.Thr1512fs)
|
|
|
NM_025114.4(CEP290):c.4561G>T (p.Glu1521Ter)
|
|
|
NM_025114.4(CEP290):c.4562dup (p.Leu1522fs)
|
|
|
NM_025114.4(CEP290):c.4576G>T (p.Glu1526Ter)
|
|
|
NM_025114.4(CEP290):c.457G>T (p.Glu153Ter)
|
|
|
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)
|
rs587779733
|
|
NM_025114.4(CEP290):c.4634_4637dup (p.Gln1546fs)
|
|
|
NM_025114.4(CEP290):c.4648_4649insCA (p.Asn1550fs)
|
rs2137183334
|
|
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
|
rs757309583
|
|
NM_025114.4(CEP290):c.4656del (p.Glu1553fs)
|
rs62640572
|
|
NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter)
|
rs2137182509
|
|
NM_025114.4(CEP290):c.4705-2A>C
|
rs2137170380
|
|
NM_025114.4(CEP290):c.4705G>T (p.Glu1569Ter)
|
rs2137170285
|
|
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)
|
rs1292516576
|
|
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs)
|
|
|
NM_025114.4(CEP290):c.4737del (p.Asp1580fs)
|
rs1304430926
|
|
NM_025114.4(CEP290):c.4763T>G (p.Leu1588Ter)
|
rs760653238
|
|
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)
|
rs62640574
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.4798A>T (p.Lys1600Ter)
|
|
|
NM_025114.4(CEP290):c.4808_4812del (p.Ala1603fs)
|
rs2036372197
|
|
NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter)
|
rs886039808
|
|
NM_025114.4(CEP290):c.4820dup (p.Met1607fs)
|
|
|
NM_025114.4(CEP290):c.4825C>T (p.Gln1609Ter)
|
rs2137156392
|
|
NM_025114.4(CEP290):c.4825_4826del (p.Gln1609fs)
|
|
|
NM_025114.4(CEP290):c.4834_4835del (p.Thr1612fs)
|
rs1207944612
|
|
NM_025114.4(CEP290):c.483del (p.Lys161fs)
|
|
|
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
|
|
|
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs)
|
rs2036318355
|
|
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)
|
|
|
NM_025114.4(CEP290):c.4879dup (p.Glu1627fs)
|
|
|
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)
|
|
|
NM_025114.4(CEP290):c.4909_4910del (p.Leu1637fs)
|
|
|
NM_025114.4(CEP290):c.4916C>A (p.Ser1639Ter)
|
|
|
NM_025114.4(CEP290):c.4933A>T (p.Lys1645Ter)
|
|
|
NM_025114.4(CEP290):c.4943_4944insTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGTATC (p.Gln1649_Asp1650insTerGln)
|
|
|
NM_025114.4(CEP290):c.4945C>T (p.Gln1649Ter)
|
rs2137152484
|
|
NM_025114.4(CEP290):c.4954G>T (p.Glu1652Ter)
|
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
NM_025114.4(CEP290):c.4963del (p.Arg1655fs)
|
|
|
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs)
|
rs756302731
|
|
NM_025114.4(CEP290):c.4983del (p.Lys1661_Val1662insTer)
|
rs879447211
|
|
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs)
|
rs2036306894
|
|
NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter)
|
|
|
NM_025114.4(CEP290):c.5002dup (p.Ile1668fs)
|
rs2137151163
|
|
NM_025114.4(CEP290):c.5009_5012del (p.Leu1670fs)
|
rs2137150860
|
|
NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter)
|
|
|
NM_025114.4(CEP290):c.5029_5030del (p.Glu1677fs)
|
|
|
NM_025114.4(CEP290):c.5046del (p.Lys1682_Val1683insTer)
|
|
|
NM_025114.4(CEP290):c.5086C>T (p.Gln1696Ter)
|
|
|
NM_025114.4(CEP290):c.5092C>T (p.Gln1698Ter)
|
|
|
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)
|
|
|
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs)
|
rs766259648
|
|
NM_025114.4(CEP290):c.5127_5143del (p.Ala1710fs)
|
rs2137103699
|
|
NM_025114.4(CEP290):c.5130del (p.Gln1711fs)
|
|
|
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs)
|
rs995093343
|
|
NM_025114.4(CEP290):c.5137G>T (p.Glu1713Ter)
|
|
|
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)
|
|
|
NM_025114.4(CEP290):c.5197C>T (p.Gln1733Ter)
|
rs1367899236
|
|
NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter)
|
rs1555205328
|
|
NM_025114.4(CEP290):c.5217del (p.Lys1739fs)
|
rs2137101209
|
|
NM_025114.4(CEP290):c.5221C>T (p.Gln1741Ter)
|
|
|
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs)
|
rs775969711
|
|
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)
|
rs748471942
|
|
NM_025114.4(CEP290):c.5277dup (p.Glu1760Ter)
|
|
|
NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter)
|
rs774410421
|
|
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter)
|
rs2039993548
|
|
NM_025114.4(CEP290):c.5348_5351del (p.His1783fs)
|
rs2137080156
|
|
NM_025114.4(CEP290):c.5415del (p.Thr1807fs)
|
rs1592808035
|
|
NM_025114.4(CEP290):c.5416A>T (p.Lys1806Ter)
|
|
|
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
|
|
|
NM_025114.4(CEP290):c.5423_5426del (p.Ser1808fs)
|
|
|
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs)
|
rs757609119
|
|
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs)
|
rs749331348
|
|
NM_025114.4(CEP290):c.5468_5471del (p.Asn1823fs)
|
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.5509_5512del (p.Leu1837fs)
|
|
|
NM_025114.4(CEP290):c.5512dup (p.Arg1838fs)
|
rs1565822519
|
|
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs)
|
rs281865187
|
|
NM_025114.4(CEP290):c.5519_5537del (p.Lys1840fs)
|
|
|
NM_025114.4(CEP290):c.5557C>T (p.Gln1853Ter)
|
|
|
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)
|
rs1592807018
|
|
NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter)
|
rs2137056192
|
|
NM_025114.4(CEP290):c.5584C>T (p.Gln1862Ter)
|
|
|
NM_025114.4(CEP290):c.558_561del (p.Asp188fs)
|
|
|
NM_025114.4(CEP290):c.5596del (p.Pro1865_Leu1866insTer)
|
|
|
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
|
rs727503853
|
|
NM_025114.4(CEP290):c.5614del (p.Ser1872fs)
|
|
|
NM_025114.4(CEP290):c.5632C>T (p.Gln1878Ter)
|
rs2137050478
|
|
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)
|
rs281865188
|
|
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)
|
rs267606719
|
|
NM_025114.4(CEP290):c.5709+1G>A
|
rs759850328
|
|
NM_025114.4(CEP290):c.5709+2T>G
|
|
|
NM_025114.4(CEP290):c.5714del (p.Ala1905fs)
|
rs2136966486
|
|
NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter)
|
|
|
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs)
|
rs754728136
|
|
NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
|
|
|
NM_025114.4(CEP290):c.5750del (p.Lys1917fs)
|
|
|
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)
|
|
|
NM_025114.4(CEP290):c.5766_5769del (p.Ile1922fs)
|
|
|
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.5783del (p.Lys1928fs)
|
rs2136964738
|
|
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
|
rs1592784618
|
|
NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs)
|
rs2035400071
|
|
NM_025114.4(CEP290):c.5790del (p.Glu1931fs)
|
rs2136964542
|
|
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs)
|
rs2136964385
|
|
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
|
|
|
NM_025114.4(CEP290):c.579_580del (p.Leu194fs)
|
|
|
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)
|
rs886042360
|
|
NM_025114.4(CEP290):c.5805dup (p.Val1936fs)
|
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
NM_025114.4(CEP290):c.5816dup (p.Leu1939fs)
|
|
|
NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)
|
|
|
NM_025114.4(CEP290):c.5828del (p.Gln1942_Leu1943insTer)
|
|
|
NM_025114.4(CEP290):c.583_584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
NM_025114.4(CEP290):c.5854A>T (p.Lys1952Ter)
|
rs2035393800
|
|
NM_025114.4(CEP290):c.5873_5874del (p.Leu1958fs)
|
rs2035367210
|
|
NM_025114.4(CEP290):c.587C>G (p.Ser196Ter)
|
|
|
NM_025114.4(CEP290):c.5931_5935del (p.Arg1978fs)
|
rs1555201796
|
|
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)
|
|
|
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter)
|
rs2035358840
|
|
NM_025114.4(CEP290):c.5972del (p.Lys1991fs)
|
rs1468269366
|
|
NM_025114.4(CEP290):c.597_648del (p.Glu200fs)
|
rs2039985700
|
|
NM_025114.4(CEP290):c.6043_6053del (p.Val2015fs)
|
rs2035124136
|
|
NM_025114.4(CEP290):c.6072C>A (p.Tyr2024Ter)
|
rs779262951
|
|
NM_025114.4(CEP290):c.6076C>T (p.Gln2026Ter)
|
|
|
NM_025114.4(CEP290):c.6079del (p.Glu2027fs)
|
rs2136911634
|
|
NM_025114.4(CEP290):c.6084_6085del (p.Lys2028fs)
|
rs2136911405
|
|
NM_025114.4(CEP290):c.6103del (p.Gln2035fs)
|
rs2136910908
|
|
NM_025114.4(CEP290):c.6135+1G>A
|
rs2035114607
|
|
NM_025114.4(CEP290):c.6154_6161del (p.Asp2052fs)
|
rs867904492
|
|
NM_025114.4(CEP290):c.6156_6159del (p.Asp2053fs)
|
|
|
NM_025114.4(CEP290):c.6170_6173del (p.Arg2057fs)
|
|
|
NM_025114.4(CEP290):c.6175C>T (p.Gln2059Ter)
|
|
|
NM_025114.4(CEP290):c.6187A>T (p.Lys2063Ter)
|
rs2136814350
|
|
NM_025114.4(CEP290):c.6249_6252del (p.Asn2083fs)
|
|
|
NM_025114.4(CEP290):c.6271-8T>G
|
rs1039146791
|
|
NM_025114.4(CEP290):c.635_636insG (p.Asn212fs)
|
|
|
NM_025114.4(CEP290):c.635_636insT (p.Tyr213fs)
|
|
|
NM_025114.4(CEP290):c.635del (p.Asn212fs)
|
|
|
NM_025114.4(CEP290):c.635dup (p.Asn212fs)
|
rs769091629
|
|
NM_025114.4(CEP290):c.6360dup (p.Gly2121fs)
|
|
|
NM_025114.4(CEP290):c.6377_6378del (p.Thr2126fs)
|
|
|
NM_025114.4(CEP290):c.6417dup (p.Val2140fs)
|
|
|
NM_025114.4(CEP290):c.6418_6419insC (p.Val2140fs)
|
rs2136751258
|
|
NM_025114.4(CEP290):c.6424dup (p.Glu2142fs)
|
|
|
NM_025114.4(CEP290):c.6439G>T (p.Glu2147Ter)
|
rs1234975160
|
|
NM_025114.4(CEP290):c.6447del (p.Glu2149fs)
|
rs1157238971
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.6487dup (p.Met2163fs)
|
rs2136748724
|
|
NM_025114.4(CEP290):c.6516del (p.Lys2172fs)
|
rs1057519165
|
|
NM_025114.4(CEP290):c.6516dup (p.Leu2173fs)
|
rs1057519165
|
|
NM_025114.4(CEP290):c.6537del (p.Lys2179fs)
|
rs2136728464
|
|
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)
|
rs863225185
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_025114.4(CEP290):c.661G>T (p.Glu221Ter)
|
rs2138093974
|
|
NM_025114.4(CEP290):c.6624del (p.Arg2208fs)
|
rs2136725569
|
|
NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter)
|
rs2034330893
|
|
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
|
|
|
NM_025114.4(CEP290):c.6645del (p.Glu2216fs)
|
rs2136724878
|
|
NM_025114.4(CEP290):c.664del (p.Ile222fs)
|
rs2138093868
|
|
NM_025114.4(CEP290):c.6661G>T (p.Glu2221Ter)
|
|
|
NM_025114.4(CEP290):c.6760dup (p.Arg2254fs)
|
rs2034235109
|
|
NM_025114.4(CEP290):c.6769C>T (p.Gln2257Ter)
|
rs2136704614
|
|
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)
|
rs2034232539
|
|
NM_025114.4(CEP290):c.679_680del (p.Glu227fs)
|
rs62640578
|
|
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)
|
rs2033943937
|
|
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
|
|
|
NM_025114.4(CEP290):c.6841G>T (p.Glu2281Ter)
|
rs2136656497
|
|
NM_025114.4(CEP290):c.6869del (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)
|
rs1592726020
|
|
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)
|
rs2033937635
|
|
NM_025114.4(CEP290):c.6916A>T (p.Arg2306Ter)
|
|
|
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.6919_6920dup (p.Gln2308fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6927del (p.Val2310fs)
|
|
|
NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter)
|
rs863225187
|
|
NM_025114.4(CEP290):c.694dup (p.Ile232fs)
|
|
|
NM_025114.4(CEP290):c.6992del (p.Ala2331fs)
|
|
|
NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter)
|
rs1414041522
|
|
NM_025114.4(CEP290):c.7003dup (p.Gln2335fs)
|
|
|
NM_025114.4(CEP290):c.7015del (p.Arg2339fs)
|
|
|
NM_025114.4(CEP290):c.7027del (p.Val2343fs)
|
rs2033827549
|
|
NM_025114.4(CEP290):c.7031_7034+7delinsAT
|
|
|
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
|
|
|
NM_025114.4(CEP290):c.7127del (p.Pro2376fs)
|
|
|
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
|
rs2138086844
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.7171_7172del (p.Gln2391fs)
|
rs768864797
|
|
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)
|
|
|
NM_025114.4(CEP290):c.718A>T (p.Arg240Ter)
|
|
|
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.725dup (p.Asn242fs)
|
|
|
NM_025114.4(CEP290):c.7263del (p.Phe2421fs)
|
|
|
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)
|
rs1219184437
|
|
NM_025114.4(CEP290):c.7264G>T (p.Glu2422Ter)
|
rs2136547054
|
|
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter)
|
rs2136546576
|
|
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.7289_7292dup (p.Tyr2431Ter)
|
rs2136546348
|
|
NM_025114.4(CEP290):c.730G>T (p.Glu244Ter)
|
rs2138086329
|
|
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7331del (p.Lys2444fs)
|
|
|
NM_025114.4(CEP290):c.7334dup (p.Leu2448fs)
|
|
|
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.737_738del (p.Ser246fs)
|
rs2039957886
|
|
NM_025114.4(CEP290):c.742C>T (p.Gln248Ter)
|
rs2138085855
|
|
NM_025114.4(CEP290):c.802_803del (p.Thr267_Asp268insTer)
|
|
|
NM_025114.4(CEP290):c.816del (p.Gln273fs)
|
|
|
NM_025114.4(CEP290):c.817C>T (p.Gln273Ter)
|
|
|
NM_025114.4(CEP290):c.828del (p.Glu277fs)
|
rs1555225566
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_025114.4(CEP290):c.833_836dup (p.Asp279fs)
|
rs1489175048
|
|
NM_025114.4(CEP290):c.843_845del (p.Tyr281_Gln282delinsTer)
|
rs2138083048
|
|
NM_025114.4(CEP290):c.84del (p.Leu28fs)
|
|
|
NM_025114.4(CEP290):c.850C>T (p.Gln284Ter)
|
|
|
NM_025114.4(CEP290):c.881C>A (p.Ser294Ter)
|
|
|
NM_025114.4(CEP290):c.955del (p.Ser319fs)
|
rs764507012
|
|
NM_025114.4(CEP290):c.976_979del (p.Glu326fs)
|
|
|
NM_025114.4(CEP290):c.985C>T (p.Gln329Ter)
|
rs2138023519
|
|
NM_025114.4(CEP290):c.[1429C>T];[322C>T]
|
|
|
NM_025114.4(CEP290):c.[1666del];[6012-12T>A]
|
|
|
NM_025114.4(CEP290):c.[3847C>T];[6271-1G>A]
|
|
|
NM_025132.4(WDR19):c.1034T>G (p.Val345Gly)
|
rs387906983
|
|
NM_025132.4(WDR19):c.1080del (p.Ile361fs)
|
rs1553907440
|
|
NM_025132.4(WDR19):c.142dup (p.Arg48fs)
|
rs1577823005
|
|
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)
|
rs886039814
|
|
NM_025132.4(WDR19):c.1483G>T (p.Gly495Cys)
|
rs1215108056
|
|
NM_025132.4(WDR19):c.1534C>T (p.Arg512Ter)
|
|
|
NM_025132.4(WDR19):c.1777+1del
|
|
|
NM_025132.4(WDR19):c.1853T>C (p.Leu618Pro)
|
rs2109358597
|
|
NM_025132.4(WDR19):c.1867_1868del (p.Gln623fs)
|
|
|
NM_025132.4(WDR19):c.1911_1914del (p.Phe637fs)
|
rs1730535406
|
|
NM_025132.4(WDR19):c.203T>A (p.Val68Asp)
|
rs786204852
|
|
NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)
|
|
|
NM_025132.4(WDR19):c.2276G>A (p.Trp759Ter)
|
|
|
NM_025132.4(WDR19):c.2277G>A (p.Trp759Ter)
|
|
|
NM_025132.4(WDR19):c.2333C>G (p.Ser778Ter)
|
rs1731221844
|
|
NM_025132.4(WDR19):c.2337del (p.Glu780fs)
|
|
|
NM_025132.4(WDR19):c.234C>A (p.Cys78Ter)
|
rs1232301082
|
|
NM_025132.4(WDR19):c.2351_2361del (p.Gln784fs)
|
rs2109377653
|
|
NM_025132.4(WDR19):c.2481dup (p.Arg828fs)
|
rs2109405851
|
|
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)
|
rs775181779
|
|
NM_025132.4(WDR19):c.2589T>G (p.Tyr863Ter)
|
|
|
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs)
|
rs1421636172
|
|
NM_025132.4(WDR19):c.2645+1G>T
|
rs1237821935
|
|
NM_025132.4(WDR19):c.2771G>A (p.Trp924Ter)
|
|
|
NM_025132.4(WDR19):c.2772G>A (p.Trp924Ter)
|
|
|
NM_025132.4(WDR19):c.2797del (p.Asp933fs)
|
|
|
NM_025132.4(WDR19):c.2972del (p.Asn991fs)
|
|
|
NM_025132.4(WDR19):c.3068dup (p.Tyr1023Ter)
|
rs786205114
|
|
NM_025132.4(WDR19):c.3184-2A>C
|
rs1020915921
|
|
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter)
|
rs387906981
|
|
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)
|
rs1401145684
|
|
NM_025132.4(WDR19):c.3457del (p.Ile1153fs)
|
|
|
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs)
|
rs747165335
|
|
NM_025132.4(WDR19):c.407-2A>G
|
rs374400438
|
|
NM_025132.4(WDR19):c.422_423del (p.Arg141fs)
|
|
|
NM_025132.4(WDR19):c.441G>A (p.Trp147Ter)
|
rs1273811425
|
|
NM_025132.4(WDR19):c.526C>T (p.Gln176Ter)
|
|
|
NM_025132.4(WDR19):c.632dup (p.Leu211fs)
|
rs2109299952
|
|
NM_025132.4(WDR19):c.641dup (p.Leu214fs)
|
rs587777348
|
|
NM_025132.4(WDR19):c.682C>T (p.Gln228Ter)
|
rs587777350
|
|
NM_025132.4(WDR19):c.697_701dup (p.Val235fs)
|
|
|
NM_025132.4(WDR19):c.749C>G (p.Ser250Ter)
|
|
|
NM_025132.4(WDR19):c.812del (p.Ala271fs)
|
|
|
NM_025132.4(WDR19):c.826_827del (p.Lys275_Asp276insTer)
|
|
|
NM_025132.4(WDR19):c.956del (p.Asn319fs)
|
rs2109322891
|
|
NM_025216.3(WNT10A):c.1018G>T (p.Glu340Ter)
|
|
|
NM_025216.3(WNT10A):c.1036del (p.Cys346fs)
|
|
|
NM_025216.3(WNT10A):c.1046del (p.Glu349fs)
|
|
|
NM_025216.3(WNT10A):c.1063del (p.Ala355fs)
|
rs2106018668
|
|
NM_025216.3(WNT10A):c.1070C>T (p.Thr357Ile)
|
|
|
NM_025216.3(WNT10A):c.1091dup (p.Ser365fs)
|
rs2106018717
|
|
NM_025216.3(WNT10A):c.1114T>G (p.Cys372Gly)
|
rs1487577386
|
|
NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter)
|
rs121908122
|
|
NM_025216.3(WNT10A):c.1165_1178delinsTTCCAGCACAACATC (p.Ser389fs)
|
rs1944678383
|
|
NM_025216.3(WNT10A):c.1168G>T (p.Glu390Ter)
|
rs750260671
|
|
NM_025216.3(WNT10A):c.1176C>A (p.Cys392Ter)
|
rs1553623389
|
|
NM_025216.3(WNT10A):c.1199G>A (p.Cys400Tyr)
|
rs1575235227
|
|
NM_025216.3(WNT10A):c.152del (p.Pro51fs)
|
|
|
NM_025216.3(WNT10A):c.1A>G (p.Met1Val)
|
|
|
NM_025216.3(WNT10A):c.1A>T (p.Met1Leu)
|
rs1221516695
|
|
NM_025216.3(WNT10A):c.251dup (p.Ala85fs)
|
|
|
NM_025216.3(WNT10A):c.27G>A (p.Trp9Ter)
|
rs121908123
|
|
NM_025216.3(WNT10A):c.295del (p.Gln99fs)
|
rs2106011673
|
|
NM_025216.3(WNT10A):c.315G>A (p.Trp105Ter)
|
rs886055642
|
|
NM_025216.3(WNT10A):c.354T>A (p.Tyr118Ter)
|
rs2106011732
|
|
NM_025216.3(WNT10A):c.37C>T (p.Arg13Ter)
|
|
|
NM_025216.3(WNT10A):c.380del (p.Phe127fs)
|
|
|
NM_025216.3(WNT10A):c.381_382delinsTT (p.Arg128Ter)
|
|
|
NM_025216.3(WNT10A):c.386del (p.Glu129fs)
|
|
|
NM_025216.3(WNT10A):c.433G>A (p.Val145Met)
|
rs543063101
|
|
NM_025216.3(WNT10A):c.490C>T (p.Arg164Ter)
|
rs561173643
|
|
NM_025216.3(WNT10A):c.495_502dup (p.Glu168fs)
|
rs2106016170
|
|
NM_025216.3(WNT10A):c.532C>T (p.Gln178Ter)
|
|
|
NM_025216.3(WNT10A):c.532_536del (p.Gln178fs)
|
rs2106016227
|
|
NM_025216.3(WNT10A):c.547C>T (p.Gln183Ter)
|
|
|
NM_025216.3(WNT10A):c.55_56dup (p.Pro20fs)
|
rs2106010718
|
|
NM_025216.3(WNT10A):c.574del (p.Val192fs)
|
|
|
NM_025216.3(WNT10A):c.580del (p.Glu194fs)
|
rs2106016293
|
|
NM_025216.3(WNT10A):c.5_27del (p.Gly2fs)
|
|
|
NM_025216.3(WNT10A):c.648del (p.Asp217fs)
|
rs2106016375
|
|
NM_025216.3(WNT10A):c.673del (p.Ser225fs)
|
|
|
NM_025216.3(WNT10A):c.68G>A (p.Trp23Ter)
|
|
|
NM_025216.3(WNT10A):c.694del (p.Arg232fs)
|
rs1575233692
|
|
NM_025216.3(WNT10A):c.694dup (p.Arg232fs)
|
|
|
NM_025216.3(WNT10A):c.697G>T (p.Glu233Ter)
|
rs121908118
|
|
NM_025216.3(WNT10A):c.69G>A (p.Trp23Ter)
|
|
|
NM_025216.3(WNT10A):c.717del (p.His239fs)
|
rs1944636041
|
|
NM_025216.3(WNT10A):c.756+1G>A
|
rs1944637150
|
|
NM_025216.3(WNT10A):c.803C>G (p.Ser268Ter)
|
rs886039454
|
|
NM_025216.3(WNT10A):c.813C>A (p.Cys271Ter)
|
|
|
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter)
|
rs773036759
|
|
NM_025216.3(WNT10A):c.826T>A (p.Cys276Ser)
|
rs1011303295
|
|
NM_025216.3(WNT10A):c.830G>A (p.Trp277Ter)
|
rs1332945612
|
|
NM_025216.3(WNT10A):c.832C>T (p.Gln278Ter)
|
rs2106018205
|
|
NM_025216.3(WNT10A):c.844G>T (p.Glu282Ter)
|
|
|
NM_025216.3(WNT10A):c.847_851del (p.Phe283fs)
|
rs2106018239
|
|
NM_025216.3(WNT10A):c.85del (p.Leu29fs)
|
rs781237311
|
|
NM_025216.3(WNT10A):c.898_899del (p.Ile300fs)
|
rs1553623281
|
|
NM_025216.3(WNT10A):c.903_906del (p.Pro302fs)
|
rs1371718238
|
|
NM_025216.3(WNT10A):c.909_916del (p.His303fs)
|
rs1944671913
|
|
NM_025216.3(WNT10A):c.932dup (p.Pro312fs)
|
rs2106018397
|
|
NM_025216.3(WNT10A):c.949del (p.Ala317fs)
|
rs775990266
|
|
NM_025216.3(WNT10A):c.949dup (p.Ala317fs)
|
rs775990266
|
|
NM_025216.3(WNT10A):c.956C>A (p.Ser319Ter)
|
|
|
NM_025216.3(WNT10A):c.981_993dup (p.Ser332fs)
|
|
|
NM_025216.3(WNT10A):c.982_986dup (p.Arg330fs)
|
|
|
NM_025216.3(WNT10A):c.983_984del (p.Arg328fs)
|
|
|
NM_025216.3(WNT10A):c.990_1003dup (p.Asp335fs)
|
rs1203128182
|
|
NM_025216.3(WNT10A):c.993del (p.Ser332fs)
|
rs2106018559
|
|
NM_025216.3(WNT10A):c.99_105dup (p.Met36fs)
|
|
|
NM_025216.3(WNT10A):c.[487C>T];[682T>A]
|
|
|
NM_030805.4(LMAN2L):c.158G>A (p.Arg53Gln)
|
rs869320632
|
|
NM_030928.4(CDT1):c.1078_1080del (p.Ala360del)
|
rs1567502140
|
|
NM_030928.4(CDT1):c.1276-24A>G
|
rs2142945856
|
|
NM_030928.4(CDT1):c.1560C>G (p.Tyr520Ter)
|
rs147914553
|
|
NM_030928.4(CDT1):c.166_167delinsA (p.Ala56fs)
|
|
|
NM_030928.4(CDT1):c.351G>C (p.Gln117His)
|
rs779871947
|
|
NM_030928.4(CDT1):c.832+1G>A
|
rs587780305
|
|
NM_030943.4(AMN):c.1006+11_1008del
|
rs1566829097
|
|
NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs)
|
rs2139312594
|
|
NM_030943.4(AMN):c.14del (p.Gly5fs)
|
rs386834168
|
|
NM_030943.4(AMN):c.206T>A (p.Met69Lys)
|
rs375774640
|
|
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs)
|
rs2139308896
|
|
NM_030943.4(AMN):c.35del (p.Gln12fs)
|
rs769770182
|
|
NM_030943.4(AMN):c.493dup (p.Ser165fs)
|
|
|
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
|
NM_031466.8(TRAPPC9):c.-124dup
|
rs765943218
|
|
NM_031471.6(FERMT3):c.1029+2T>C
|
rs1591038507
|
|
NM_031471.6(FERMT3):c.1525C>T (p.Arg509Ter)
|
rs121918295
|
|
NM_031471.6(FERMT3):c.1601_1602del (p.Glu534fs)
|
|
|
NM_031471.6(FERMT3):c.161-2A>C
|
rs1286499329
|
|
NM_031471.6(FERMT3):c.1671-2A>G
|
rs2134903776
|
|
NM_031471.6(FERMT3):c.48G>A (p.Trp16Ter)
|
rs121918296
|
|
NM_031471.6(FERMT3):c.540del (p.Met181fs)
|
rs2134845306
|
|
NM_031471.6(FERMT3):c.664_665del (p.Lys222fs)
|
rs1591028090
|
|
NM_031471.6(FERMT3):c.687G>A (p.Trp229Ter)
|
rs121918298
|
|
NM_031471.6(FERMT3):c.814dup (p.Tyr272fs)
|
rs1591037806
|
|
NM_031471.6(FERMT3):c.847_853del (p.Glu283fs)
|
|
|
NM_031471.6(FERMT3):c.921del (p.Ser307fs)
|
rs2134880586
|
|
NM_031475.3(ESPN):c.1649_1665del (p.Arg550fs)
|
|
|
NM_031475.3(ESPN):c.1916-1G>C
|
rs1643944047
|
|
NM_031475.3(ESPN):c.1988_1991del (p.Lys663fs)
|
rs1569726455
|
|
NM_031475.3(ESPN):c.2081_2082del (p.Ser694fs)
|
rs2148538836
|
|
NM_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del)
|
rs1557720377
|
|
NM_031475.3(ESPN):c.2470_2473del (p.Ser824fs)
|
rs1569770998
|
|
NM_031475.3(ESPN):c.2496C>G (p.Tyr832Ter)
|
|
|
NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer)
|
rs754472294
|
|
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
|
rs193922710
|
|
NM_031885.5(BBS2):c.1015del (p.Arg339fs)
|
|
|
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys)
|
rs1567576202
|
|
NM_031885.5(BBS2):c.110del (p.Thr37fs)
|
rs2144214319
|
|
NM_031885.5(BBS2):c.113del (p.Gly38fs)
|
rs2144214277
|
|
NM_031885.5(BBS2):c.1148_1149dup (p.His384fs)
|
|
|
NM_031885.5(BBS2):c.1161del (p.Ser388fs)
|
rs2144145429
|
|
NM_031885.5(BBS2):c.1162_1163del (p.Val389fs)
|
|
|
NM_031885.5(BBS2):c.1163C>A (p.Ser388Ter)
|
|
|
NM_031885.5(BBS2):c.1179_1180del (p.Asn393fs)
|
|
|
NM_031885.5(BBS2):c.118-1G>C
|
rs587777825
|
|
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
|
rs1964267396
|
|
NM_031885.5(BBS2):c.1218_1219insGTAATGG (p.Ser407fs)
|
rs2144145120
|
|
NM_031885.5(BBS2):c.1221_1222insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTCGCATTTCCACTTCT (p.Asn408delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaIleValTyrTer)
|
|
|
NM_031885.5(BBS2):c.1225+1del
|
|
|
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
|
|
|
NM_031885.5(BBS2):c.1346_1347del (p.Lys449fs)
|
|
|
NM_031885.5(BBS2):c.1371del (p.Lys458fs)
|
rs2144143132
|
|
NM_031885.5(BBS2):c.1393del (p.Ser465fs)
|
|
|
NM_031885.5(BBS2):c.1465del (p.Leu489fs)
|
|
|
NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs)
|
rs1363846772
|
|
NM_031885.5(BBS2):c.1546C>T (p.Gln516Ter)
|
rs1597012997
|
|
NM_031885.5(BBS2):c.1555del (p.Leu519fs)
|
|
|
NM_031885.5(BBS2):c.1572_1575del (p.His525fs)
|
rs2144134877
|
|
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs)
|
rs750146549
|
|
NM_031885.5(BBS2):c.1662del (p.Thr555fs)
|
|
|
NM_031885.5(BBS2):c.1662dup (p.Thr555fs)
|
rs2144132870
|
|
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)
|
rs1555521501
|
|
NM_031885.5(BBS2):c.175del (p.Gln59fs)
|
rs2144193544
|
|
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs)
|
rs1964155109
|
|
NM_031885.5(BBS2):c.1767T>G (p.Tyr589Ter)
|
|
|
NM_031885.5(BBS2):c.1770del (p.Phe590fs)
|
rs193922711
|
|
NM_031885.5(BBS2):c.1800_1801insT (p.Asp601Ter)
|
|
|
NM_031885.5(BBS2):c.1808_1809del (p.Tyr603fs)
|
rs1964134678
|
|
NM_031885.5(BBS2):c.1811_1821del (p.His604fs)
|
|
|
NM_031885.5(BBS2):c.1822C>T (p.Gln608Ter)
|
|
|
NM_031885.5(BBS2):c.1843dup (p.Ala615fs)
|
rs1199538371
|
|
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)
|
rs1555521379
|
|
NM_031885.5(BBS2):c.1922del (p.Lys641fs)
|
|
|
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)
|
rs1963758780
|
|
NM_031885.5(BBS2):c.1932T>G (p.Tyr644Ter)
|
rs1044072013
|
|
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter)
|
rs1166717771
|
|
NM_031885.5(BBS2):c.1974T>G (p.Tyr658Ter)
|
rs895581773
|
|
NM_031885.5(BBS2):c.1997_1998del (p.Thr666fs)
|
|
|
NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs)
|
rs1555520212
|
|
NM_031885.5(BBS2):c.2059+1G>T
|
rs2144095211
|
|
NM_031885.5(BBS2):c.2104_2110del (p.Ile702fs)
|
rs2144093084
|
|
NM_031885.5(BBS2):c.212_226del (p.Ile71_Val75del)
|
|
|
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)
|
rs121908174
|
|
NM_031885.5(BBS2):c.255del (p.Glu86fs)
|
rs2144193104
|
|
NM_031885.5(BBS2):c.256_278dup (p.Val94fs)
|
rs2144193013
|
|
NM_031885.5(BBS2):c.263del (p.Gly88fs)
|
rs869025206
|
|
NM_031885.5(BBS2):c.307del (p.Tyr103fs)
|
|
|
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter)
|
rs181736797
|
|
NM_031885.5(BBS2):c.362del (p.Asn121fs)
|
|
|
NM_031885.5(BBS2):c.402del (p.Ala136fs)
|
rs1368647604
|
|
NM_031885.5(BBS2):c.416G>T (p.Gly139Val)
|
rs121908181
|
|
NM_031885.5(BBS2):c.437del (p.Gly146fs)
|
rs1170844318
|
|
NM_031885.5(BBS2):c.440del (p.Phe147fs)
|
rs1433422530
|
|
NM_031885.5(BBS2):c.466del (p.Trp156fs)
|
|
|
NM_031885.5(BBS2):c.468del (p.Phe155_Trp156insTer)
|
|
|
NM_031885.5(BBS2):c.471+1G>A
|
rs1555523584
|
|
NM_031885.5(BBS2):c.471+1G>C
|
rs1555523584
|
|
NM_031885.5(BBS2):c.472-2A>G
|
rs137854887
|
|
NM_031885.5(BBS2):c.472del
|
rs587777826
|
|
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter)
|
rs1964558577
|
|
NM_031885.5(BBS2):c.528del (p.Glu178fs)
|
|
|
NM_031885.5(BBS2):c.590_591del (p.Val197fs)
|
|
|
NM_031885.5(BBS2):c.613-1G>C
|
rs2144163316
|
|
NM_031885.5(BBS2):c.613-1G>T
|
|
|
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
|
rs773417074
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_031885.5(BBS2):c.685dup (p.Tyr229fs)
|
|
|
NM_031885.5(BBS2):c.717+1G>T
|
|
|
NM_031885.5(BBS2):c.717+2T>G
|
rs1555522893
|
|
NM_031885.5(BBS2):c.718-2A>C
|
rs1964413705
|
|
NM_031885.5(BBS2):c.718-2A>G
|
rs1964413705
|
|
NM_031885.5(BBS2):c.774del (p.Asn258fs)
|
rs777218224
|
|
NM_031885.5(BBS2):c.775G>T (p.Glu259Ter)
|
|
|
NM_031885.5(BBS2):c.812del (p.Ala271fs)
|
|
|
NM_031885.5(BBS2):c.892del (p.Arg298fs)
|
rs2144150359
|
|
NM_031885.5(BBS2):c.89_90dup (p.Leu31fs)
|
|
|
NM_031885.5(BBS2):c.916_919del (p.Ile306fs)
|
|
|
NM_031885.5(BBS2):c.940del (p.Ile314fs)
|
rs587777824
|
|
NM_031885.5(BBS2):c.941-1G>C
|
rs777234811
|
|
NM_031885.5(BBS2):c.941-1G>T
|
rs777234811
|
|
NM_031885.5(BBS2):c.941-2A>C
|
rs878962682
|
|
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln)
|
rs544773389
|
|
NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys)
|
rs1597016660
|
|
NM_031885.5(BBS2):c.973del (p.Arg325fs)
|
|
|
NM_031942.5(CDCA7):c.1057C>T (p.Arg353Cys)
|
rs879253738
|
|
NM_031942.5(CDCA7):c.1058G>A (p.Arg353His)
|
rs370384522
|
|
NM_031942.5(CDCA7):c.1118del (p.Gly373fs)
|
rs876657409
|
|
NM_032040.5(CCDC8):c.612dup (p.Lys205fs)
|
rs752254407
|
|
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs)
|
rs1973237748
|
|
NM_032040.5(CCDC8):c.84dup (p.Lys29Ter)
|
rs1568590155
|
|
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)
|
rs1060499795
|
|
NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter)
|
rs1580905929
|
|
NM_032119.4(ADGRV1):c.10570C>T (p.Gln3524Ter)
|
|
|
NM_032119.4(ADGRV1):c.11122-1G>C
|
rs1561660434
|
|
NM_032119.4(ADGRV1):c.11772del (p.Ile3925fs)
|
rs1755899012
|
|
NM_032119.4(ADGRV1):c.11938C>T (p.Gln3980Ter)
|
|
|
NM_032119.4(ADGRV1):c.12125del (p.Met4042fs)
|
rs1581041519
|
|
NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter)
|
rs1561740143
|
|
NM_032119.4(ADGRV1):c.14329C>T (p.Gln4777Ter)
|
|
|
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs)
|
rs1581135405
|
|
NM_032119.4(ADGRV1):c.14639_14640del (p.Val4879_Ser4880insTer)
|
rs780664266
|
|
NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs)
|
rs1581196586
|
|
NM_032119.4(ADGRV1):c.16041dup (p.Thr5348fs)
|
rs2150231769
|
|
NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter)
|
rs1561416879
|
|
NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter)
|
rs377650415
|
|
NM_032119.4(ADGRV1):c.1626A>T (p.Thr542=)
|
rs1765197280
|
|
NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter)
|
rs1561843914
|
|
NM_032119.4(ADGRV1):c.17974-1G>C
|
rs1581711527
|
|
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys)
|
rs121909763
|
|
NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer)
|
rs796051865
|
|
NM_032119.4(ADGRV1):c.2241-2A>G
|
rs929034631
|
|
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs)
|
rs796051866
|
|
NM_032119.4(ADGRV1):c.227del (p.Gly76fs)
|
|
|
NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter)
|
rs1561441451
|
|
NM_032119.4(ADGRV1):c.2812C>T (p.Gln938Ter)
|
|
|
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)
|
rs1060499796
|
|
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs)
|
rs1439933768
|
|
NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs)
|
rs1767988429
|
|
NM_032119.4(ADGRV1):c.3364dup (p.Ser1122fs)
|
|
|
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys)
|
rs1580609185
|
|
NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs)
|
rs796051867
|
|
NM_032119.4(ADGRV1):c.6077dup (p.Tyr2026Ter)
|
|
|
NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs)
|
rs1276890742
|
|
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter)
|
rs527236133
|
|
NM_032119.4(ADGRV1):c.7130G>A (p.Arg2377Gln)
|
rs369341309
|
|
NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter)
|
rs886039893
|
|
NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter)
|
rs1561543496
|
|
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs)
|
rs796051863
|
|
NM_032119.4(ADGRV1):c.8790del (p.Met2931fs)
|
rs796051864
|
|
NM_032119.4(ADGRV1):c.9439C>T (p.Arg3147Ter)
|
|
|
NM_032119.4(ADGRV1):c.955_958dup (p.Leu320fs)
|
rs1764920338
|
|
NM_032119.4(ADGRV1):c.956dup (p.Asn319fs)
|
rs752179149
|
|
NM_032119.4(ADGRV1):c.9748+2T>C
|
rs1580864592
|
|
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter)
|
rs769215629
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_032193.4(RNASEH2C):c.428A>T (p.Lys143Ile)
|
rs75146158
|
|
NM_032237.5(POMK):c.152del (p.Asp51fs)
|
rs2130601407
|
|
NM_032237.5(POMK):c.238_239del (p.Glu80fs)
|
rs1454006905
|
|
NM_032237.5(POMK):c.247C>T (p.Gln83Ter)
|
|
|
NM_032237.5(POMK):c.280A>T (p.Arg94Ter)
|
|
|
NM_032237.5(POMK):c.282+1G>C
|
rs1206884841
|
|
NM_032237.5(POMK):c.325C>T (p.Gln109Ter)
|
rs587777423
|
|
NM_032237.5(POMK):c.43dup (p.Arg15fs)
|
rs749980792
|
|
NM_032237.5(POMK):c.452_455dup (p.His152fs)
|
rs2130626601
|
|
NM_032237.5(POMK):c.459del (p.Pro153_Leu154insTer)
|
|
|
NM_032237.5(POMK):c.645T>G (p.Tyr215Ter)
|
|
|
NM_032237.5(POMK):c.724dup (p.Val242fs)
|
|
|
NM_032237.5(POMK):c.754dup (p.Asp252fs)
|
|
|
NM_032237.5(POMK):c.803del (p.Phe268fs)
|
|
|
NM_032237.5(POMK):c.847del (p.Trp283fs)
|
|
|
NM_032237.5(POMK):c.94_98del (p.Thr32fs)
|
|
|
NM_032490.5(GON7):c.19dup (p.Tyr7fs)
|
rs2140095097
|
|
NM_032490.5(GON7):c.21C>A (p.Tyr7Ter)
|
rs1218573239
|
|
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)
|
rs587777728
|
|
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)
|
rs587777731
|
|
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)
|
rs587777729
|
|
NM_032575.3(GLIS2):c.523T>C (p.Cys175Arg)
|
rs587777353
|
|
NM_032575.3(GLIS2):c.570_584del (p.Asn190_Val194del)
|
rs2141132961
|
|
NM_032575.3(GLIS2):c.775+1G>T
|
rs878855335
|
|
NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His)
|
rs571640983
|
|
NM_032793.5(MFSD2A):c.1386_1435del (p.Gln462fs)
|
rs2124782476
|
|
NM_032793.5(MFSD2A):c.476C>T (p.Thr159Met)
|
rs1057517688
|
|
NM_032793.5(MFSD2A):c.556+1G>A
|
rs758953000
|
|
NM_032793.5(MFSD2A):c.750_753del (p.Cys251fs)
|
rs1278119822
|
|
NM_032813.5(TMTC4):c.547G>A (p.Glu183Lys)
|
|
|
NM_032813.5(TMTC4):c.575C>T (p.Ala192Val)
|
|
|
NM_032856.5(WDR73):c.1039C>T (p.His347Tyr)
|
rs754099015
|
|
NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter)
|
rs727502863
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
NM_032856.5(WDR73):c.400_401del (p.Trp136fs)
|
rs767086146
|
|
NM_032856.5(WDR73):c.68T>A (p.Leu23Gln)
|
rs797044993
|
|
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs)
|
rs1596050297
|
|
NM_032856.5(WDR73):c.766dup (p.Arg256fs)
|
rs727502864
|
|
NM_032856.5(WDR73):c.888del (p.Phe296fs)
|
rs869320712
|
|
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter)
|
rs797044994
|
|
NM_032898.5(CEP19):c.182dup (p.Tyr61Ter)
|
rs1553794304
|
|
NM_032982.4(CASP2):c.1156del (p.Tyr386fs)
|
|
|
NM_032982.4(CASP2):c.1174C>T (p.Gln392Ter)
|
|
|
NM_032982.4(CASP2):c.130C>T (p.Arg44Ter)
|
|
|
NM_032982.4(CASP2):c.876+1G>T
|
|
|
NM_033028.4(BBS4):c.157-?_220+?del
|
|
|
NM_033028.4:r.[118_261del;118_373del]
|
|
|
NM_033028.5(BBS4):c.1016_1017del (p.Glu339fs)
|
|
|
NM_033028.5(BBS4):c.1064_1106+97del
|
|
|
NM_033028.5(BBS4):c.1083C>A (p.Tyr361Ter)
|
|
|
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
|
|
|
NM_033028.5(BBS4):c.1116_1119dup (p.Val374fs)
|
rs2065911287
|
|
NM_033028.5(BBS4):c.1126dup (p.Leu376fs)
|
rs2065911518
|
|
NM_033028.5(BBS4):c.1140_1147del (p.Leu381fs)
|
|
|
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
|
|
|
NM_033028.5(BBS4):c.1203dup (p.Val402fs)
|
|
|
NM_033028.5(BBS4):c.1226del (p.Ser409fs)
|
rs886039800
|
|
NM_033028.5(BBS4):c.1248+1G>A
|
|
|
NM_033028.5(BBS4):c.1248+1G>T
|
rs1419924139
|
|
NM_033028.5(BBS4):c.1248+2T>C
|
rs2151055229
|
|
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
|
|
|
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
|
|
|
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter)
|
rs2065331681
|
|
NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)
|
|
|
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)
|
rs1281334523
|
|
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
|
|
|
NM_033028.5(BBS4):c.157-1G>T
|
|
|
NM_033028.5(BBS4):c.157-2A>G
|
rs113994192
|
|
NM_033028.5(BBS4):c.157-3C>G
|
rs1567412639
|
|
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)
|
rs886039802
|
|
NM_033028.5(BBS4):c.186_187del (p.Gln63fs)
|
|
|
NM_033028.5(BBS4):c.217del (p.Gln73fs)
|
|
|
NM_033028.5(BBS4):c.220+1G>A
|
|
|
NM_033028.5(BBS4):c.220+1G>C
|
rs113994190
|
|
NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)
|
|
|
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
|
|
|
NM_033028.5(BBS4):c.281del (p.Ala94fs)
|
rs2151023363
|
|
NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)
|
|
|
NM_033028.5(BBS4):c.332+2_332+3insTT
|
rs753360929
|
|
NM_033028.5(BBS4):c.341del (p.Leu114fs)
|
rs750258633
|
|
NM_033028.5(BBS4):c.346A>T (p.Lys116Ter)
|
|
|
NM_033028.5(BBS4):c.406-2A>C
|
rs113994191
|
|
NM_033028.5(BBS4):c.406-2A>G
|
rs113994191
|
|
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
|
|
|
NM_033028.5(BBS4):c.435C>A (p.Tyr145Ter)
|
|
|
NM_033028.5(BBS4):c.453_454insGAAC (p.Asn152fs)
|
|
|
NM_033028.5(BBS4):c.458del (p.Lys153fs)
|
|
|
NM_033028.5(BBS4):c.459+1G>A
|
|
|
NM_033028.5(BBS4):c.469del (p.Gln157fs)
|
|
|
NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter)
|
rs367882912
|
|
NM_033028.5(BBS4):c.514dup (p.Ile172fs)
|
|
|
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
|
|
|
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
|
|
|
NM_033028.5(BBS4):c.623T>A (p.Leu208Ter)
|
rs1358520224
|
|
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter)
|
rs1060503692
|
|
NM_033028.5(BBS4):c.640C>T (p.Gln214Ter)
|
|
|
NM_033028.5(BBS4):c.642+2T>G
|
|
|
NM_033028.5(BBS4):c.656dup (p.Lys220fs)
|
|
|
NM_033028.5(BBS4):c.657del (p.Lys220fs)
|
rs1567427651
|
|
NM_033028.5(BBS4):c.67C>T (p.Gln23Ter)
|
|
|
NM_033028.5(BBS4):c.76+1G>T
|
rs1465437164
|
|
NM_033028.5(BBS4):c.76+2T>C
|
|
|
NM_033028.5(BBS4):c.77-216del
|
rs113994189
|
|
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)
|
rs1459736027
|
|
NM_033028.5(BBS4):c.780_781del (p.Arg260fs)
|
|
|
NM_033028.5(BBS4):c.836_842del (p.Cys279fs)
|
rs2151047525
|
|
NM_033028.5(BBS4):c.87del (p.Pro30fs)
|
|
|
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro)
|
rs121434632
|
|
NM_033028.5(BBS4):c.929del (p.Leu310fs)
|
rs889012564
|
|
NM_033028.5(BBS4):c.952C>T (p.Gln318Ter)
|
rs1567430070
|
|
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter)
|
rs770891152
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_033056.4(PCDH15):c.5861C>G (p.Ser1954Ter)
|
|
|
NM_033064.5(ATCAY):c.602_608del (p.Asp201fs)
|
rs2145248615
|
|
NM_033064.5(ATCAY):c.[903C>G;965+3G>T]
|
|
|
NM_033109.5(PNPT1):c.1424A>G (p.Glu475Gly)
|
rs397514599
|
|
NM_033109.5(PNPT1):c.1748dup (p.Glu584fs)
|
rs35239216
|
|
NM_033109.5(PNPT1):c.1818T>G (p.Val606=)
|
rs1049082567
|
|
NM_033109.5(PNPT1):c.2234T>C (p.Met745Thr)
|
rs1425696642
|
|
NM_033109.5(PNPT1):c.298-2A>T
|
rs1478363532
|
|
NM_033109.5(PNPT1):c.574C>T (p.Arg192Ter)
|
|
|
NM_033109.5(PNPT1):c.918del (p.Val307fs)
|
rs1696930196
|
|
NM_033550.4(TP53RK):c.125G>A (p.Gly42Asp)
|
rs773814837
|
|
NM_033550.4(TP53RK):c.179del (p.Lys60fs)
|
rs1431526147
|
|
NM_033550.4(TP53RK):c.242C>G (p.Thr81Arg)
|
rs1432218739
|
|
NM_033550.4(TP53RK):c.728G>T (p.Arg243Leu)
|
rs776588426
|
|
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter)
|
rs1354160835
|
|
NM_033629.6(TREX1):c.130del (p.Leu44fs)
|
|
|
NM_033629.6(TREX1):c.137dup (p.Ser46fs)
|
rs2107255865
|
|
NM_033629.6(TREX1):c.141_151del (p.Pro48fs)
|
|
|
NM_033629.6(TREX1):c.144del (p.Thr49fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.144dup (p.Thr49fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.150_151del (p.Gln51fs)
|
rs770607110
|
|
NM_033629.6(TREX1):c.153_166del (p.Gln51fs)
|
rs2107256093
|
|
NM_033629.6(TREX1):c.18dup (p.Pro7fs)
|
|
|
NM_033629.6(TREX1):c.205_206del (p.Leu69fs)
|
|
|
NM_033629.6(TREX1):c.212_213del (p.Val71fs)
|
rs74689946
|
|
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs)
|
|
|
NM_033629.6(TREX1):c.236_243del (p.Pro79fs)
|
rs1331920811
|
|
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)
|
rs1331920811
|
|
NM_033629.6(TREX1):c.23dup (p.Pro10fs)
|
rs781731683
|
|
NM_033629.6(TREX1):c.243_246del (p.Ser82fs)
|
rs2040335386
|
|
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)
|
|
|
NM_033629.6(TREX1):c.294dup (p.Cys99fs)
|
rs760594164
|
|
NM_033629.6(TREX1):c.296_299dup (p.Phe100fs)
|
rs763966000
|
|
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter)
|
|
|
NM_033629.6(TREX1):c.366_367del (p.Ala123fs)
|
|
|
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup)
|
rs77371662
|
|
NM_033629.6(TREX1):c.371_381del (p.His124fs)
|
|
|
NM_033629.6(TREX1):c.399dup (p.Leu134fs)
|
rs2107258834
|
|
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter)
|
rs768724007
|
|
NM_033629.6(TREX1):c.513del (p.His171fs)
|
|
|
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer)
|
|
|
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)
|
rs121908117
|
|
NM_033629.6(TREX1):c.55dup (p.Met19fs)
|
|
|
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter)
|
|
|
NM_033629.6(TREX1):c.581del (p.Ser194fs)
|
rs1575293518
|
|
NM_033629.6(TREX1):c.58dup (p.Glu20fs)
|
rs78300695
|
|
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn)
|
rs78846775
|
|
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup)
|
rs74556809
|
|
NM_033629.6(TREX1):c.5del (p.Gly2fs)
|
rs2107254550
|
|
NM_033629.6(TREX1):c.602T>A (p.Val201Asp)
|
rs78408272
|
|
NM_033629.6(TREX1):c.621_622del (p.Ile207fs)
|
rs781199890
|
|
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter)
|
rs184953805
|
|
NM_033629.6(TREX1):c.635del (p.Pro212fs)
|
rs756664985
|
|
NM_033629.6(TREX1):c.69dup (p.Pro25fs)
|
|
|
NM_033629.6(TREX1):c.703dup (p.Val235fs)
|
rs1553820434
|
|
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs)
|
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
NM_052989.3(IFT122):c.1141C>T (p.Gln381Ter)
|
|
|
NM_052989.3(IFT122):c.1198C>T (p.Arg400Ter)
|
|
|
NM_052989.3(IFT122):c.1432dup (p.Val478fs)
|
rs2108311256
|
|
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly)
|
rs267607191
|
|
NM_052989.3(IFT122):c.1963del (p.Glu655fs)
|
|
|
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys)
|
rs267607193
|
|
NM_052989.3(IFT122):c.2285del (p.Lys762fs)
|
rs2081339145
|
|
NM_052989.3(IFT122):c.2313C>A (p.Tyr771Ter)
|
|
|
NM_052989.3(IFT122):c.2375+2T>C
|
rs786205567
|
|
NM_052989.3(IFT122):c.2705_2706del (p.Thr902fs)
|
|
|
NM_052989.3(IFT122):c.273-257C>A
|
|
|
NM_052989.3(IFT122):c.273-281_273-271del
|
rs1559868433
|
|
NM_052989.3(IFT122):c.273-341dup
|
|
|
NM_052989.3(IFT122):c.273-374_273-369dup
|
|
|
NM_052989.3(IFT122):c.3013C>T (p.Gln1005Ter)
|
|
|
NM_052989.3(IFT122):c.3076_3079delinsG (p.Tyr1026_Ile1027delinsVal)
|
rs2083230922
|
|
NM_052989.3(IFT122):c.3076_3080delinsGTA (p.Tyr1026fs)
|
|
|
NM_052989.3(IFT122):c.3180C>A (p.Cys1060Ter)
|
|
|
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs)
|
rs1299632365
|
|
NM_052989.3(IFT122):c.347_348del (p.Phe116fs)
|
|
|
NM_052989.3(IFT122):c.3553C>T (p.Arg1185Ter)
|
|
|
NM_052989.3(IFT122):c.3563del (p.Pro1188fs)
|
|
|
NM_052989.3(IFT122):c.356G>A (p.Trp119Ter)
|
|
|
NM_052989.3(IFT122):c.3575G>A (p.Trp1192Ter)
|
|
|
NM_052989.3(IFT122):c.3726A>G (p.Ter1242Trp)
|
rs2108740086
|
|
NM_052989.3(IFT122):c.384del (p.Lys128fs)
|
|
|
NM_052989.3(IFT122):c.443_449dup (p.Met151fs)
|
|
|
NM_052989.3(IFT122):c.916_917del (p.Leu306fs)
|
|
|
NM_052989.3(IFT122):c.955del (p.Glu319fs)
|
rs397515567
|
|
NM_052989.3(IFT122):c.982C>T (p.Gln328Ter)
|
|
|
NM_079420.3(MYL1):c.479-2A>G
|
rs1559659233
|
|
NM_079420.3(MYL1):c.488T>G (p.Met163Arg)
|
rs1259220084
|
|
NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser)
|
rs606231410
|
|
NM_080680.3(COL11A2):c.2423G>A (p.Gly808Glu)
|
rs121912948
|
|
NM_080680.3(COL11A2):c.2662C>A (p.Pro888Thr)
|
rs864309523
|
|
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys)
|
rs121912947
|
|
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)
|
rs748440351
|
|
NM_130384.3(ATRIP):c.829+2T>G
|
rs2107215447
|
|
NM_130837.3(OPA1):c.1369G>A (p.Val457Met)
|
rs879255594
|
|
NM_130837.3(OPA1):c.1870+1G>T
|
rs879255595
|
|
NM_130837.3(OPA1):c.2287del (p.Ser763fs)
|
rs1219753329
|
|
NM_130837.3(OPA1):c.2635C>T (p.Arg879Ter)
|
rs879255593
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys)
|
rs387907002
|
|
NM_133261.3(GIPC3):c.685dup (p.Ala229fs)
|
rs748150647
|
|
NM_133261.3(GIPC3):c.724G>T (p.Glu242Ter)
|
rs1568278651
|
|
NM_133261.3(GIPC3):c.767G>A (p.Gly256Asp)
|
rs387907001
|
|
NM_133261.3(GIPC3):c.785T>G (p.Leu262Arg)
|
rs387906999
|
|
NM_133261.3(GIPC3):c.903G>A (p.Trp301Ter)
|
rs387907000
|
|
NM_138387.4(G6PC3):c.131C>T (p.Pro44Leu)
|
|
|
NM_138387.4(G6PC3):c.141C>G (p.Tyr47Ter)
|
rs118203970
|
|
NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)
|
|
|
NM_138387.4(G6PC3):c.163del (p.Ile55fs)
|
|
|
NM_138387.4(G6PC3):c.199_218+1del
|
rs1597905369
|
|
NM_138387.4(G6PC3):c.210_213del (p.Phe71fs)
|
|
|
NM_138387.4(G6PC3):c.215del (p.Lys72fs)
|
|
|
NM_138387.4(G6PC3):c.218+2T>C
|
|
|
NM_138387.4(G6PC3):c.246G>A (p.Trp82Ter)
|
|
|
NM_138387.4(G6PC3):c.267C>G (p.Tyr89Ter)
|
|
|
NM_138387.4(G6PC3):c.346A>G (p.Met116Val)
|
rs267606834
|
|
NM_138387.4(G6PC3):c.376del (p.Ile125_Met126insTer)
|
|
|
NM_138387.4(G6PC3):c.3G>T (p.Met1Ile)
|
|
|
NM_138387.4(G6PC3):c.464del (p.Leu155fs)
|
rs1295168770
|
|
NM_138387.4(G6PC3):c.481C>T (p.Arg161Ter)
|
|
|
NM_138387.4(G6PC3):c.554T>C (p.Leu185Pro)
|
rs118203969
|
|
NM_138387.4(G6PC3):c.575dup (p.Met192fs)
|
|
|
NM_138387.4(G6PC3):c.62G>A (p.Trp21Ter)
|
|
|
NM_138387.4(G6PC3):c.635del (p.Leu212fs)
|
rs769634275
|
|
NM_138387.4(G6PC3):c.63G>A (p.Trp21Ter)
|
|
|
NM_138387.4(G6PC3):c.677+1G>A
|
rs778208850
|
|
NM_138387.4(G6PC3):c.758_781del (p.Arg253_Gly260del)
|
rs777475388
|
|
NM_138387.4(G6PC3):c.765del (p.Ala257fs)
|
|
|
NM_138387.4(G6PC3):c.784G>C (p.Gly262Arg)
|
rs118203971
|
|
NM_138387.4(G6PC3):c.911dup (p.Gln305fs)
|
rs34019455
|
|
NM_138387.4(G6PC3):c.935dup (p.Asn313fs)
|
rs797044567
|
|
NM_138395.4(MARS2):c.2_*1dup (p.Met1_Ter594=)
|
|
|
NM_138395.4(MARS2):c.682_949del (p.Gly228fs)
|
rs1553608221
|
|
NM_138425.3(C12orf57):c.-256C>T
|
rs139594532
|
|
NM_138425.3(C12orf57):c.-266T>G
|
rs782444004
|
|
NM_138425.3(C12orf57):c.-267_-260delCTGGCTTT
|
rs1255543147
|
|
NM_138425.3(C12orf57):c.-272G>A
|
rs1055698058
|
|
NM_138501.6(TECR):c.545C>T (p.Pro182Leu)
|
rs199469705
|
|
NM_138691.2(TMC1):c.[1165C>T];[1939T>C]
|
|
|
NM_138691.2(TMC1):c.[1210T>C];[1939T>C]
|
|
|
NM_138691.2(TMC1):c.[1810C>T];[1939T>C]
|
|
|
NM_138691.2(TMC1):c.[1810C>T];[674C>T]
|
|
|
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter)
|
rs757327146
|
|
NM_138691.3(TMC1):c.1184del (p.Gln395fs)
|
rs2118181420
|
|
NM_138691.3(TMC1):c.1220dup (p.Asn407fs)
|
rs1564555185
|
|
NM_138691.3(TMC1):c.1250G>A (p.Gly417Glu)
|
|
|
NM_138691.3(TMC1):c.1253T>A (p.Met418Lys)
|
rs786201027
|
|
NM_138691.3(TMC1):c.1259G>A (p.Cys420Tyr)
|
rs1564556995
|
|
NM_138691.3(TMC1):c.150del (p.Asn50fs)
|
rs2132189585
|
|
NM_138691.3(TMC1):c.1532C>T (p.Pro511Leu)
|
rs727503483
|
|
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg)
|
rs121908076
|
|
NM_138691.3(TMC1):c.15dup (p.Val6fs)
|
rs878853229
|
|
NM_138691.3(TMC1):c.16+1G>T
|
rs1169090943
|
|
NM_138691.3(TMC1):c.1627G>A (p.Asp543Asn)
|
|
|
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn)
|
rs121908072
|
|
NM_138691.3(TMC1):c.1714G>C (p.Asp572His)
|
rs121908072
|
|
NM_138691.3(TMC1):c.2218G>T (p.Glu740Ter)
|
rs1564583413
|
|
NM_138691.3(TMC1):c.229del (p.Arg77fs)
|
rs878853230
|
|
NM_138691.3(TMC1):c.871del (p.Val291fs)
|
|
|
NM_138691.3(TMC1):c.885-2A>C
|
rs1564554148
|
|
NM_138694.3(PKHD1):c.8108-?_8173+?del
|
|
|
NM_138694.3:c.(?_5909)_(12225_?)del
|
|
|
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.10109dup (p.Phe3371fs)
|
rs1057517071
|
|
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)
|
rs1334145215
|
|
NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter)
|
rs2150962096
|
|
NM_138694.4(PKHD1):c.10228C>T (p.Gln3410Ter)
|
|
|
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs)
|
rs1446729264
|
|
NM_138694.4(PKHD1):c.10334del (p.Asn3445fs)
|
rs2150417202
|
|
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)
|
rs765652131
|
|
NM_138694.4(PKHD1):c.10392del (p.Ile3465fs)
|
rs2150416702
|
|
NM_138694.4(PKHD1):c.10393_10394insG (p.Ile3465fs)
|
|
|
NM_138694.4(PKHD1):c.10411del (p.Val3471fs)
|
rs1554183588
|
|
NM_138694.4(PKHD1):c.10443del (p.Leu3481fs)
|
rs1554183559
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
NM_138694.4(PKHD1):c.10529T>G (p.Leu3510Ter)
|
|
|
NM_138694.4(PKHD1):c.10561C>T (p.Gln3521Ter)
|
rs2150415240
|
|
NM_138694.4(PKHD1):c.1057C>T (p.Gln353Ter)
|
|
|
NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser)
|
rs1554183398
|
|
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
|
rs752889346
|
|
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs)
|
|
|
NM_138694.4(PKHD1):c.10673del (p.Gly3558fs)
|
rs2150414452
|
|
NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter)
|
rs1554219449
|
|
NM_138694.4(PKHD1):c.10708del (p.Ser3570fs)
|
|
|
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)
|
rs1057516345
|
|
NM_138694.4(PKHD1):c.10722del (p.Gly3575fs)
|
|
|
NM_138694.4(PKHD1):c.10756_10759del (p.Asn3586fs)
|
rs1195276132
|
|
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter)
|
rs780182068
|
|
NM_138694.4(PKHD1):c.10774C>T (p.Gln3592Ter)
|
|
|
NM_138694.4(PKHD1):c.10850_10862dup (p.Asn3621fs)
|
|
|
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs)
|
rs1554183240
|
|
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)
|
rs1554183235
|
|
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.10894A>T (p.Arg3632Ter)
|
|
|
NM_138694.4(PKHD1):c.10937C>G (p.Ser3646Ter)
|
|
|
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs)
|
rs765390756
|
|
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs)
|
rs1057517047
|
|
NM_138694.4(PKHD1):c.10976C>G (p.Ser3659Ter)
|
rs1562040106
|
|
NM_138694.4(PKHD1):c.10984_10987del (p.Ile3662fs)
|
rs1772384576
|
|
NM_138694.4(PKHD1):c.11026G>T (p.Gly3676Ter)
|
|
|
NM_138694.4(PKHD1):c.11060delinsTT (p.Gln3687fs)
|
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)
|
|
|
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser)
|
rs1554176504
|
|
NM_138694.4(PKHD1):c.11223T>G (p.Tyr3741Ter)
|
rs778676351
|
|
NM_138694.4(PKHD1):c.1131_1132insA (p.Gly378fs)
|
rs2128215670
|
|
NM_138694.4(PKHD1):c.1136dup (p.Phe380fs)
|
|
|
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter)
|
rs1215290114
|
|
NM_138694.4(PKHD1):c.11408dup (p.Ala3804fs)
|
rs2150329535
|
|
NM_138694.4(PKHD1):c.11416del (p.Thr3806fs)
|
|
|
NM_138694.4(PKHD1):c.11435_11441del (p.Ser3812fs)
|
|
|
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
|
rs1385935333
|
|
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)
|
|
|
NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter)
|
rs2150329160
|
|
NM_138694.4(PKHD1):c.11475G>A (p.Trp3825Ter)
|
rs1768958447
|
|
NM_138694.4(PKHD1):c.11566A>T (p.Lys3856Ter)
|
rs1409782065
|
|
NM_138694.4(PKHD1):c.1157del (p.Asn386fs)
|
rs2128215604
|
|
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter)
|
rs1554167673
|
|
NM_138694.4(PKHD1):c.11613G>A (p.Trp3871Ter)
|
|
|
NM_138694.4(PKHD1):c.11685del (p.Pro3896fs)
|
|
|
NM_138694.4(PKHD1):c.11697_11785+527delinsTTAGG
|
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|
NM_138694.4(PKHD1):c.11766del (p.Asp3923fs)
|
|
|
NM_138694.4(PKHD1):c.11776del (p.Val3926fs)
|
rs1057517324
|
|
NM_138694.4(PKHD1):c.11785+1G>T
|
rs1488844530
|
|
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr)
|
rs1582024305
|
|
NM_138694.4(PKHD1):c.11821C>T (p.Gln3941Ter)
|
|
|
NM_138694.4(PKHD1):c.11830del (p.His3944fs)
|
rs774086520
|
|
NM_138694.4(PKHD1):c.1197del (p.Leu400fs)
|
rs766857175
|
|
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)
|
rs1554229312
|
|
NM_138694.4(PKHD1):c.1205del (p.Phe402fs)
|
rs1057517178
|
|
NM_138694.4(PKHD1):c.1227del (p.Thr410fs)
|
rs1808421350
|
|
NM_138694.4(PKHD1):c.1233+1G>A
|
rs886061623
|
|
NM_138694.4(PKHD1):c.1233+99_1694-441del
|
|
|
NM_138694.4(PKHD1):c.1260del (p.Thr421fs)
|
|
|
NM_138694.4(PKHD1):c.126del (p.Phe42fs)
|
rs760586271
|
|
NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter)
|
|
|
NM_138694.4(PKHD1):c.1284G>A (p.Trp428Ter)
|
|
|
NM_138694.4(PKHD1):c.1293dup (p.Arg432Ter)
|
rs2128212671
|
|
NM_138694.4(PKHD1):c.1305del (p.Thr436fs)
|
rs1808150555
|
|
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)
|
rs1582013246
|
|
NM_138694.4(PKHD1):c.134_154delinsAG (p.Leu45_Pro52delinsTer)
|
rs1812193678
|
|
NM_138694.4(PKHD1):c.1350del (p.Met451fs)
|
|
|
NM_138694.4(PKHD1):c.1356C>G (p.Tyr452Ter)
|
|
|
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1414C>T (p.Gln472Ter)
|
|
|
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
|
|
|
NM_138694.4(PKHD1):c.1529del (p.Gly510fs)
|
rs1807855713
|
|
NM_138694.4(PKHD1):c.1602+1G>A
|
rs398124476
|
|
NM_138694.4(PKHD1):c.1621G>T (p.Glu541Ter)
|
|
|
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs)
|
rs1554216499
|
|
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs)
|
rs777295562
|
|
NM_138694.4(PKHD1):c.1644del (p.Lys548fs)
|
|
|
NM_138694.4(PKHD1):c.1693+1G>T
|
rs2128209217
|
|
NM_138694.4(PKHD1):c.1693+2T>G
|
rs1581999471
|
|
NM_138694.4(PKHD1):c.1728del (p.Ser577fs)
|
|
|
NM_138694.4(PKHD1):c.1820dup (p.Asp608fs)
|
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.1849_1850dup (p.Lys618fs)
|
|
|
NM_138694.4(PKHD1):c.1854del (p.Gly619fs)
|
rs1807328785
|
|
NM_138694.4(PKHD1):c.1856del (p.Gly619fs)
|
rs1807328375
|
|
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)
|
rs786204696
|
|
NM_138694.4(PKHD1):c.1967G>A (p.Trp656Ter)
|
rs2128203970
|
|
NM_138694.4(PKHD1):c.1968G>T (p.Trp656Cys)
|
rs1209068432
|
|
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg)
|
rs727504092
|
|
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter)
|
rs2128203862
|
|
NM_138694.4(PKHD1):c.2059C>T (p.Gln687Ter)
|
rs2128203606
|
|
NM_138694.4(PKHD1):c.2085_2086insA (p.Glu696fs)
|
rs2128203474
|
|
NM_138694.4(PKHD1):c.2107G>A (p.Asp703Asn)
|
rs2128203385
|
|
NM_138694.4(PKHD1):c.210dup (p.Ala71fs)
|
|
|
NM_138694.4(PKHD1):c.2120T>C (p.Ile707Thr)
|
|
|
NM_138694.4(PKHD1):c.2135dup (p.Thr713fs)
|
|
|
NM_138694.4(PKHD1):c.2140+1G>A
|
rs1554213853
|
|
NM_138694.4(PKHD1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_138694.4(PKHD1):c.2176_2177delinsT (p.Gly726fs)
|
rs1581956689
|
|
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs)
|
rs2128196889
|
|
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)
|
rs1554212326
|
|
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter)
|
rs1057516608
|
|
NM_138694.4(PKHD1):c.2201_2202del (p.Val734fs)
|
rs1806590811
|
|
NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter)
|
rs1806573538
|
|
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.2280-1G>A
|
|
|
NM_138694.4(PKHD1):c.2339_2340del (p.Arg780fs)
|
rs2128192920
|
|
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)
|
rs398124480
|
|
NM_138694.4(PKHD1):c.2555G>A (p.Trp852Ter)
|
|
|
NM_138694.4(PKHD1):c.2563C>T (p.Gln855Ter)
|
rs1805754682
|
|
NM_138694.4(PKHD1):c.2590del (p.Arg864fs)
|
rs1057516709
|
|
NM_138694.4(PKHD1):c.2601del (p.Asp867fs)
|
|
|
NM_138694.4(PKHD1):c.2606del (p.Asn869fs)
|
|
|
NM_138694.4(PKHD1):c.2664_2665insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAGGGAGACAGAGGGAGAGGGAGAGGGAGCATGATGGTGGAGTTTTT (p.Leu889fs)
|
|
|
NM_138694.4(PKHD1):c.2688_2696delinsA (p.Met896fs)
|
rs1805550477
|
|
NM_138694.4(PKHD1):c.2713C>T (p.Gln905Ter)
|
rs1805547113
|
|
NM_138694.4(PKHD1):c.2733del (p.Asn911fs)
|
rs2128184202
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.2770C>T (p.Gln924Ter)
|
|
|
NM_138694.4(PKHD1):c.2796T>A (p.Cys932Ter)
|
|
|
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)
|
rs786204707
|
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
|
NM_138694.4(PKHD1):c.2846del (p.Tyr949fs)
|
rs2128182991
|
|
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.2932del (p.Gln978fs)
|
rs2128182780
|
|
NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter)
|
rs1581910796
|
|
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys)
|
rs2128182593
|
|
NM_138694.4(PKHD1):c.2T>C (p.Met1Thr)
|
rs2128246846
|
|
NM_138694.4(PKHD1):c.3089C>A (p.Ala1030Glu)
|
|
|
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
|
rs755183117
|
|
NM_138694.4(PKHD1):c.312_313del (p.Tyr105fs)
|
|
|
NM_138694.4(PKHD1):c.3202A>T (p.Arg1068Ter)
|
|
|
NM_138694.4(PKHD1):c.3225del (p.Arg1076fs)
|
|
|
NM_138694.4(PKHD1):c.3228+1G>T
|
rs868673401
|
|
NM_138694.4(PKHD1):c.3229-2A>C
|
rs1057516872
|
|
NM_138694.4(PKHD1):c.3271dup (p.Asp1091fs)
|
rs1803325484
|
|
NM_138694.4(PKHD1):c.3300del (p.Phe1100fs)
|
|
|
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs)
|
rs774250209
|
|
NM_138694.4(PKHD1):c.330C>G (p.Tyr110Ter)
|
|
|
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs)
|
rs1057516922
|
|
NM_138694.4(PKHD1):c.3350_3351del (p.Ile1117fs)
|
|
|
NM_138694.4(PKHD1):c.3364G>A (p.Gly1122Ser)
|
rs1803308145
|
|
NM_138694.4(PKHD1):c.337G>T (p.Gly113Ter)
|
rs2128240429
|
|
NM_138694.4(PKHD1):c.338del (p.Gly113fs)
|
|
|
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter)
|
rs1554227215
|
|
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs)
|
rs1554200778
|
|
NM_138694.4(PKHD1):c.3473G>A (p.Trp1158Ter)
|
rs1802523270
|
|
NM_138694.4(PKHD1):c.3479dup (p.Glu1161fs)
|
|
|
NM_138694.4(PKHD1):c.3549del (p.His1184fs)
|
rs1802504786
|
|
NM_138694.4(PKHD1):c.3561-1G>A
|
rs1802457333
|
|
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
|
|
|
NM_138694.4(PKHD1):c.3589dup (p.Glu1197fs)
|
rs2128151635
|
|
NM_138694.4(PKHD1):c.3628G>T (p.Gly1210Ter)
|
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.3744G>A (p.Trp1248Ter)
|
|
|
NM_138694.4(PKHD1):c.3754del (p.Leu1252fs)
|
rs2128146668
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.3771dup (p.Pro1258fs)
|
|
|
NM_138694.4(PKHD1):c.3815G>A (p.Trp1272Ter)
|
|
|
NM_138694.4(PKHD1):c.3837_3838del (p.Arg1280fs)
|
|
|
NM_138694.4(PKHD1):c.3848C>A (p.Ser1283Ter)
|
|
|
NM_138694.4(PKHD1):c.390+1G>A
|
rs752327566
|
|
NM_138694.4(PKHD1):c.390+1del
|
rs1554227162
|
|
NM_138694.4(PKHD1):c.3907del (p.Val1303fs)
|
rs1581812192
|
|
NM_138694.4(PKHD1):c.3921del (p.Gly1308fs)
|
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.3958G>T (p.Gly1320Ter)
|
|
|
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs)
|
rs1802073525
|
|
NM_138694.4(PKHD1):c.4026del (p.Phe1343fs)
|
rs2128145291
|
|
NM_138694.4(PKHD1):c.4034del (p.Gly1345fs)
|
rs2128145261
|
|
NM_138694.4(PKHD1):c.4105dup (p.Arg1369fs)
|
rs1581810497
|
|
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)
|
rs752305132
|
|
NM_138694.4(PKHD1):c.411_414dup (p.Val139fs)
|
rs2128236822
|
|
NM_138694.4(PKHD1):c.4141del (p.Val1381fs)
|
rs778537772
|
|
NM_138694.4(PKHD1):c.4183_4184dup (p.Pro1396fs)
|
|
|
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
|
rs1581809655
|
|
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)
|
rs1464962854
|
|
NM_138694.4(PKHD1):c.4224del (p.Thr1408_Val1409insTer)
|
rs2128144542
|
|
NM_138694.4(PKHD1):c.4235del (p.Leu1412fs)
|
rs2128144488
|
|
NM_138694.4(PKHD1):c.424del (p.Val142fs)
|
rs2128236801
|
|
NM_138694.4(PKHD1):c.4277C>A (p.Ser1426Ter)
|
|
|
NM_138694.4(PKHD1):c.4295del (p.Val1432fs)
|
rs1246693314
|
|
NM_138694.4(PKHD1):c.4328del (p.Cys1443fs)
|
|
|
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)
|
rs1581808463
|
|
NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs)
|
rs1554198780
|
|
NM_138694.4(PKHD1):c.4375_4390del (p.Leu1459fs)
|
|
|
NM_138694.4(PKHD1):c.4415G>A (p.Cys1472Tyr)
|
|
|
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)
|
rs398124486
|
|
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter)
|
rs1554198717
|
|
NM_138694.4(PKHD1):c.4436dup (p.Ile1480fs)
|
rs1801998818
|
|
NM_138694.4(PKHD1):c.4444_4450del (p.Glu1482fs)
|
|
|
NM_138694.4(PKHD1):c.4481del (p.Asn1494fs)
|
rs1801988386
|
|
NM_138694.4(PKHD1):c.4485del (p.Ser1496fs)
|
rs1325403863
|
|
NM_138694.4(PKHD1):c.448G>T (p.Gly150Ter)
|
|
|
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)
|
rs1581806935
|
|
NM_138694.4(PKHD1):c.4496del (p.Leu1499fs)
|
|
|
NM_138694.4(PKHD1):c.4519C>T (p.Gln1507Ter)
|
|
|
NM_138694.4(PKHD1):c.4543G>T (p.Glu1515Ter)
|
rs1433540169
|
|
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs)
|
rs1057516691
|
|
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter)
|
rs1057516263
|
|
NM_138694.4(PKHD1):c.4644del (p.Tyr1549fs)
|
rs2128143028
|
|
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs)
|
rs1801949246
|
|
NM_138694.4(PKHD1):c.4666del (p.Arg1556fs)
|
|
|
NM_138694.4(PKHD1):c.470dup (p.Trp158fs)
|
rs2128233941
|
|
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs)
|
rs727504087
|
|
NM_138694.4(PKHD1):c.4778_4779del (p.Ile1593fs)
|
rs2128142610
|
|
NM_138694.4(PKHD1):c.47T>A (p.Leu16Ter)
|
|
|
NM_138694.4(PKHD1):c.4816del (p.Val1606fs)
|
rs2128142490
|
|
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs)
|
rs2128142414
|
|
NM_138694.4(PKHD1):c.484G>T (p.Gly162Ter)
|
rs1210505160
|
|
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)
|
rs267601070
|
|
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs)
|
rs2128142132
|
|
NM_138694.4(PKHD1):c.4932G>A (p.Trp1644Ter)
|
rs779028446
|
|
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe)
|
rs28937907
|
|
NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter)
|
rs2128141956
|
|
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs)
|
rs1057517220
|
|
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter)
|
rs1801882752
|
|
NM_138694.4(PKHD1):c.5075G>A (p.Cys1692Tyr)
|
|
|
NM_138694.4(PKHD1):c.5075G>C (p.Cys1692Ser)
|
|
|
NM_138694.4(PKHD1):c.507del (p.Phe169fs)
|
rs2128233864
|
|
NM_138694.4(PKHD1):c.5117del (p.Val1706fs)
|
|
|
NM_138694.4(PKHD1):c.5155dup (p.Tyr1719fs)
|
|
|
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
|
|
|
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
|
|
|
NM_138694.4(PKHD1):c.525del (p.Asp175fs)
|
rs1810924520
|
|
NM_138694.4(PKHD1):c.5261_5262del (p.His1754fs)
|
|
|
NM_138694.4(PKHD1):c.528-2A>G
|
|
|
NM_138694.4(PKHD1):c.5310_5311del (p.Cys1770fs)
|
|
|
NM_138694.4(PKHD1):c.5322C>A (p.Cys1774Ter)
|
rs2128138552
|
|
NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs)
|
rs794727572
|
|
NM_138694.4(PKHD1):c.5334dup (p.Asn1779Ter)
|
rs1801600694
|
|
NM_138694.4(PKHD1):c.5374del (p.Leu1792fs)
|
rs2128138378
|
|
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs)
|
rs1554194574
|
|
NM_138694.4(PKHD1):c.5420del (p.Asp1807fs)
|
|
|
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)
|
rs1554194511
|
|
NM_138694.4(PKHD1):c.5462del (p.Asp1820_Leu1821insTer)
|
rs2128130342
|
|
NM_138694.4(PKHD1):c.5476del (p.Ala1826fs)
|
|
|
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter)
|
rs2128231908
|
|
NM_138694.4(PKHD1):c.5502G>A (p.Trp1834Ter)
|
rs1800728912
|
|
NM_138694.4(PKHD1):c.5521G>T (p.Glu1841Ter)
|
|
|
NM_138694.4(PKHD1):c.5538C>A (p.Cys1846Ter)
|
|
|
NM_138694.4(PKHD1):c.5585C>A (p.Ser1862Ter)
|
|
|
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
|
|
|
NM_138694.4(PKHD1):c.5656del (p.Met1886fs)
|
|
|
NM_138694.4(PKHD1):c.5665del (p.Glu1889fs)
|
rs1581727260
|
|
NM_138694.4(PKHD1):c.5695C>T (p.Gln1899Ter)
|
rs2128117147
|
|
NM_138694.4(PKHD1):c.5742del (p.Asn1915fs)
|
|
|
NM_138694.4(PKHD1):c.5751+1G>A
|
rs775638588
|
|
NM_138694.4(PKHD1):c.5751+3A>G
|
rs1581726525
|
|
NM_138694.4(PKHD1):c.5752-2A>G
|
rs1057516407
|
|
NM_138694.4(PKHD1):c.575_578del (p.Ser192fs)
|
|
|
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs)
|
rs1791765505
|
|
NM_138694.4(PKHD1):c.5767_5768del (p.Gln1923fs)
|
rs2127947553
|
|
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)
|
|
|
NM_138694.4(PKHD1):c.5784G>A (p.Trp1928Ter)
|
rs1791760028
|
|
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs)
|
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.5858del (p.Leu1953fs)
|
rs2127946739
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
NM_138694.4(PKHD1):c.5909-46_5943del
|
rs2127769312
|
|
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)
|
rs1583446897
|
|
NM_138694.4(PKHD1):c.5953del (p.Ala1985fs)
|
rs1561921358
|
|
NM_138694.4(PKHD1):c.5994_5998del (p.Gly1999fs)
|
|
|
NM_138694.4(PKHD1):c.5995G>T (p.Gly1999Ter)
|
rs2127768828
|
|
NM_138694.4(PKHD1):c.6001G>T (p.Glu2001Ter)
|
|
|
NM_138694.4(PKHD1):c.6008del (p.Lys2003fs)
|
rs2127768716
|
|
NM_138694.4(PKHD1):c.602+1G>A
|
rs1554223950
|
|
NM_138694.4(PKHD1):c.6029del (p.Gln2010fs)
|
rs1561920869
|
|
NM_138694.4(PKHD1):c.6077del (p.Gly2026fs)
|
|
|
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)
|
rs1057516804
|
|
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs)
|
rs2127768101
|
|
NM_138694.4(PKHD1):c.6111_6112insG (p.Ser2038fs)
|
|
|
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
|
|
|
NM_138694.4(PKHD1):c.6209G>A (p.Trp2070Ter)
|
|
|
NM_138694.4(PKHD1):c.6210G>A (p.Trp2070Ter)
|
|
|
NM_138694.4(PKHD1):c.6273_6285delinsGA (p.Glu2092fs)
|
|
|
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs)
|
rs910497248
|
|
NM_138694.4(PKHD1):c.6333-2A>G
|
|
|
NM_138694.4(PKHD1):c.6336T>G (p.Tyr2112Ter)
|
rs2127664665
|
|
NM_138694.4(PKHD1):c.6364del (p.Ala2122fs)
|
|
|
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter)
|
rs1783006864
|
|
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer)
|
rs1405067373
|
|
NM_138694.4(PKHD1):c.6390del (p.Thr2131fs)
|
rs1783005266
|
|
NM_138694.4(PKHD1):c.6392dup (p.Val2132fs)
|
rs2127664245
|
|
NM_138694.4(PKHD1):c.6437_6440del (p.Thr2146fs)
|
|
|
NM_138694.4(PKHD1):c.6469C>T (p.Gln2157Ter)
|
|
|
NM_138694.4(PKHD1):c.6472G>T (p.Glu2158Ter)
|
|
|
NM_138694.4(PKHD1):c.6499C>T (p.Gln2167Ter)
|
rs368263958
|
|
NM_138694.4(PKHD1):c.6506_6511delinsC (p.Cys2169fs)
|
|
|
NM_138694.4(PKHD1):c.6508_6511del (p.Leu2170fs)
|
|
|
NM_138694.4(PKHD1):c.6568C>T (p.Gln2190Ter)
|
rs1782629977
|
|
NM_138694.4(PKHD1):c.6592C>T (p.Gln2198Ter)
|
|
|
NM_138694.4(PKHD1):c.6629G>A (p.Gly2210Glu)
|
|
|
NM_138694.4(PKHD1):c.6658del (p.Leu2220fs)
|
rs2127651823
|
|
NM_138694.4(PKHD1):c.6765del (p.Asp2255fs)
|
|
|
NM_138694.4(PKHD1):c.6778del (p.Tyr2260fs)
|
rs1782064827
|
|
NM_138694.4(PKHD1):c.6794A>T (p.His2265Leu)
|
|
|
NM_138694.4(PKHD1):c.6805_6806insCTAT (p.Val2269fs)
|
|
|
NM_138694.4(PKHD1):c.6809-2A>G
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6835del (p.Ser2279fs)
|
|
|
NM_138694.4(PKHD1):c.6839G>A (p.Trp2280Ter)
|
rs758404336
|
|
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter)
|
rs1583295819
|
|
NM_138694.4(PKHD1):c.6865+1G>A
|
|
|
NM_138694.4(PKHD1):c.690dup (p.Val231fs)
|
rs2128229183
|
|
NM_138694.4(PKHD1):c.6929del (p.Gly2310fs)
|
|
|
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
|
|
|
NM_138694.4(PKHD1):c.7011_7012del (p.Cys2337fs)
|
|
|
NM_138694.4(PKHD1):c.7023T>A (p.Tyr2341Ter)
|
|
|
NM_138694.4(PKHD1):c.7060C>T (p.Gln2354Ter)
|
|
|
NM_138694.4(PKHD1):c.7062del (p.Ala2355fs)
|
rs1583203255
|
|
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs)
|
rs1554289495
|
|
NM_138694.4(PKHD1):c.7138C>T (p.Gln2380Ter)
|
|
|
NM_138694.4(PKHD1):c.7149G>A (p.Trp2383Ter)
|
rs757590581
|
|
NM_138694.4(PKHD1):c.7171_7172del (p.Leu2391fs)
|
|
|
NM_138694.4(PKHD1):c.7195del (p.Glu2399fs)
|
|
|
NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp)
|
|
|
NM_138694.4(PKHD1):c.7253_7254del (p.Lys2418fs)
|
|
|
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.731G>A (p.Trp244Ter)
|
rs1582085757
|
|
NM_138694.4(PKHD1):c.7351-1G>C
|
rs1554282540
|
|
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr)
|
rs1037991711
|
|
NM_138694.4(PKHD1):c.7395G>A (p.Trp2465Ter)
|
rs1231660958
|
|
NM_138694.4(PKHD1):c.7396G>T (p.Glu2466Ter)
|
|
|
NM_138694.4(PKHD1):c.7417del (p.Thr2473fs)
|
|
|
NM_138694.4(PKHD1):c.7465del (p.Ser2489fs)
|
rs2151777326
|
|
NM_138694.4(PKHD1):c.7473T>A (p.Cys2491Ter)
|
rs2151777194
|
|
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter)
|
rs1057516768
|
|
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter)
|
rs769645972
|
|
NM_138694.4(PKHD1):c.7529_7530del (p.Ser2510fs)
|
rs2151761823
|
|
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs)
|
rs863224528
|
|
NM_138694.4(PKHD1):c.7594_7597del (p.Ser2532fs)
|
|
|
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs)
|
rs1775351921
|
|
NM_138694.4(PKHD1):c.7651_7652dup (p.Leu2551fs)
|
|
|
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter)
|
rs1057516751
|
|
NM_138694.4(PKHD1):c.7713del (p.His2572fs)
|
rs1057517078
|
|
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs)
|
rs797044745
|
|
NM_138694.4(PKHD1):c.7765_7766delinsT (p.Thr2589fs)
|
rs1773247172
|
|
NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs)
|
rs1583054534
|
|
NM_138694.4(PKHD1):c.7867del (p.Tyr2623fs)
|
|
|
NM_138694.4(PKHD1):c.7880_7881del (p.Gln2626_Ser2627insTer)
|
|
|
NM_138694.4(PKHD1):c.7888del (p.Leu2630fs)
|
rs1583053996
|
|
NM_138694.4(PKHD1):c.788_789del (p.Ser263fs)
|
rs1045491786
|
|
NM_138694.4(PKHD1):c.7912-1G>A
|
rs1160209891
|
|
NM_138694.4(PKHD1):c.7912-1G>C
|
rs1160209891
|
|
NM_138694.4(PKHD1):c.7912-2A>G
|
rs1554271235
|
|
NM_138694.4(PKHD1):c.7944del (p.Asn2649fs)
|
|
|
NM_138694.4(PKHD1):c.7950C>G (p.Tyr2650Ter)
|
|
|
NM_138694.4(PKHD1):c.7964A>G (p.His2655Arg)
|
|
|
NM_138694.4(PKHD1):c.7973T>A (p.Leu2658Ter)
|
rs1482563973
|
|
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs)
|
rs1583013487
|
|
NM_138694.4(PKHD1):c.7985_7986del (p.Pro2662fs)
|
|
|
NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)
|
|
|
NM_138694.4(PKHD1):c.7_19del (p.Ala3fs)
|
|
|
NM_138694.4(PKHD1):c.8069G>A (p.Trp2690Ter)
|
rs768660365
|
|
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg)
|
rs754448530
|
|
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs)
|
rs774050795
|
|
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter)
|
rs1473182306
|
|
NM_138694.4(PKHD1):c.8128C>T (p.Gln2710Ter)
|
rs2151549840
|
|
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs)
|
rs1769233531
|
|
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs)
|
rs886042676
|
|
NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter)
|
rs2151512212
|
|
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter)
|
rs2151512054
|
|
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs)
|
rs2151512076
|
|
NM_138694.4(PKHD1):c.820dup (p.Arg274fs)
|
rs1582064844
|
|
NM_138694.4(PKHD1):c.821_822del (p.Arg274fs)
|
|
|
NM_138694.4(PKHD1):c.8289del (p.Leu2764fs)
|
rs1768123584
|
|
NM_138694.4(PKHD1):c.8302+2T>C
|
rs2151510946
|
|
NM_138694.4(PKHD1):c.8303-1G>A
|
rs786204241
|
|
NM_138694.4(PKHD1):c.831_836del (p.277IT[1])
|
|
|
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)
|
|
|
NM_138694.4(PKHD1):c.8409C>A (p.Cys2803Ter)
|
|
|
NM_138694.4(PKHD1):c.840del (p.Gly281fs)
|
|
|
NM_138694.4(PKHD1):c.8453del (p.Asn2818fs)
|
rs1790945437
|
|
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter)
|
rs2128223990
|
|
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
|
rs1554232224
|
|
NM_138694.4(PKHD1):c.8553del (p.Ile2851fs)
|
|
|
NM_138694.4(PKHD1):c.8555-2A>G
|
rs1020621286
|
|
NM_138694.4(PKHD1):c.8562T>G (p.Tyr2854Ter)
|
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.8604_8605del (p.Trp2868fs)
|
|
|
NM_138694.4(PKHD1):c.865C>T (p.Gln289Ter)
|
rs2128223979
|
|
NM_138694.4(PKHD1):c.8668del (p.Trp2890fs)
|
rs2151021274
|
|
NM_138694.4(PKHD1):c.8677dup (p.His2893fs)
|
rs1554221465
|
|
NM_138694.4(PKHD1):c.8731del (p.Leu2911fs)
|
rs2151020773
|
|
NM_138694.4(PKHD1):c.8782A>T (p.Lys2928Ter)
|
rs2151020303
|
|
NM_138694.4(PKHD1):c.8798-2A>T
|
rs1582470309
|
|
NM_138694.4(PKHD1):c.880+1G>A
|
rs1582064292
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
|
NM_138694.4(PKHD1):c.8829dup (p.Ile2944fs)
|
rs2151011995
|
|
NM_138694.4(PKHD1):c.8837del (p.Leu2946fs)
|
|
|
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter)
|
rs1229564017
|
|
NM_138694.4(PKHD1):c.8870_8874del (p.Ile2957fs)
|
|
|
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)
|
rs770068023
|
|
NM_138694.4(PKHD1):c.8909_8912del (p.Phe2970fs)
|
rs1473686155
|
|
NM_138694.4(PKHD1):c.8912del (p.Val2971fs)
|
rs2151011017
|
|
NM_138694.4(PKHD1):c.8916dup (p.Ser2973fs)
|
|
|
NM_138694.4(PKHD1):c.8980C>T (p.Gln2994Ter)
|
rs2150987482
|
|
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)
|
rs1582053820
|
|
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)
|
rs775628123
|
|
NM_138694.4(PKHD1):c.9038_9039delinsAA (p.Ser3013Ter)
|
|
|
NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe)
|
rs137852945
|
|
NM_138694.4(PKHD1):c.9070dup (p.Cys3024fs)
|
rs2150986957
|
|
NM_138694.4(PKHD1):c.9081_9082dup (p.Ile3028fs)
|
|
|
NM_138694.4(PKHD1):c.9149del (p.Gly3050fs)
|
rs2150986366
|
|
NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs)
|
rs1582441668
|
|
NM_138694.4(PKHD1):c.9183_9186delinsATTAGTGACATCAG (p.Asn3062fs)
|
rs2150986043
|
|
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)
|
rs1288017883
|
|
NM_138694.4(PKHD1):c.9210_9223del (p.Gln3070fs)
|
rs2150985744
|
|
NM_138694.4(PKHD1):c.9219G>A (p.Trp3073Ter)
|
rs761075492
|
|
NM_138694.4(PKHD1):c.9302_9303del (p.Arg3101fs)
|
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.9329dup (p.Cys3111fs)
|
|
|
NM_138694.4(PKHD1):c.9348del (p.Leu3117fs)
|
rs1785501068
|
|
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)
|
rs1554218666
|
|
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro)
|
rs373241537
|
|
NM_138694.4(PKHD1):c.9386del (p.Gly3129fs)
|
rs1785493309
|
|
NM_138694.4(PKHD1):c.9455del (p.Asn3152fs)
|
|
|
NM_138694.4(PKHD1):c.954del (p.Arg319fs)
|
rs1809305398
|
|
NM_138694.4(PKHD1):c.9552T>G (p.Tyr3184Ter)
|
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_138694.4(PKHD1):c.9568C>T (p.Gln3190Ter)
|
|
|
NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter)
|
rs2150982651
|
|
NM_138694.4(PKHD1):c.9615del (p.Ile3205fs)
|
|
|
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)
|
rs1057516445
|
|
NM_138694.4(PKHD1):c.9699del (p.Ser3234fs)
|
rs1785437689
|
|
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.9723dup (p.Gly3242fs)
|
rs1582436832
|
|
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs)
|
rs1562221540
|
|
NM_138694.4(PKHD1):c.9735G>A (p.Trp3245Ter)
|
|
|
NM_138694.4(PKHD1):c.9779G>A (p.Trp3260Ter)
|
|
|
NM_138694.4(PKHD1):c.9780G>A (p.Trp3260Ter)
|
|
|
NM_138694.4(PKHD1):c.9825del (p.Gln3276fs)
|
|
|
NM_138694.4(PKHD1):c.9830-2A>G
|
rs890681861
|
|
NM_138694.4(PKHD1):c.9845del (p.Ser3282fs)
|
|
|
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)
|
rs757099749
|
|
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)
|
|
|
NM_138694.4(PKHD1):c.9945del (p.Met3316fs)
|
|
|
NM_138694.4(PKHD1):c.9956_9957del (p.Ile3319fs)
|
|
|
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)
|
rs1057524563
|
|
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)
|
rs375189195
|
|
NM_138775.3(ALKBH8):c.1675del (p.Arg559fs)
|
|
|
NM_138775.3(ALKBH8):c.1785del (p.Trp596fs)
|
rs1591234203
|
|
NM_139173.4(SLC9B1):c.1338_1339del (p.Leu447fs)
|
|
|
NM_139319.3(SLC17A8):c.616dup (p.Met206fs)
|
rs2135999616
|
|
NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val)
|
rs121918339
|
|
NM_139343.3(BIN1):c.105G>T (p.Lys35Asn)
|
rs121909273
|
|
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter)
|
rs587783343
|
|
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.451G>A (p.Asp151Asn)
|
rs121909274
|
|
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)
|
rs267606681
|
|
NM_144498.4(OSBPL2):c.141_142del (p.Arg50fs)
|
rs786205881
|
|
NM_144498.4(OSBPL2):c.156_157del (p.Gln53fs)
|
rs786205880
|
|
NM_144498.4(OSBPL2):c.158_159del (p.Gln53fs)
|
rs1981200603
|
|
NM_144498.4(OSBPL2):c.180_181del (p.His60fs)
|
rs1981202197
|
|
NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly)
|
rs786205854
|
|
NM_144508.5(KNL1):c.1076del (p.Gly359fs)
|
rs2141719739
|
|
NM_144508.5(KNL1):c.5184dup (p.Ile1729fs)
|
rs863225127
|
|
NM_144508.5(KNL1):c.6045G>A (p.Met2015Ile)
|
rs763915472
|
|
NM_144596.4(TTC8):c.1021C>T (p.Gln341Ter)
|
rs2141033426
|
|
NM_144596.4(TTC8):c.1029_1032dup (p.Ala345fs)
|
|
|
NM_144596.4(TTC8):c.1049+2_1049+4del
|
rs587777807
|
|
NM_144596.4(TTC8):c.106dup (p.Tyr36fs)
|
rs2094691095
|
|
NM_144596.4(TTC8):c.112C>T (p.Gln38Ter)
|
|
|
NM_144596.4(TTC8):c.114+1G>T
|
|
|
NM_144596.4(TTC8):c.114+2T>C
|
rs1273244823
|
|
NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)
|
|
|
NM_144596.4(TTC8):c.266-2A>G
|
rs2140976096
|
|
NM_144596.4(TTC8):c.293del (p.Gly98fs)
|
rs1271312946
|
|
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)
|
rs376035653
|
|
NM_144596.4(TTC8):c.572del (p.Leu191fs)
|
|
|
NM_144596.4(TTC8):c.589_594del (p.Glu197_Tyr198del)
|
rs587777806
|
|
NM_144596.4(TTC8):c.600dup (p.His201fs)
|
|
|
NM_144596.4(TTC8):c.674G>A (p.Trp225Ter)
|
rs2140999501
|
|
NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)
|
|
|
NM_144596.4(TTC8):c.699del (p.Lys233fs)
|
|
|
NM_144596.4(TTC8):c.901_905del (p.Arg300_Ile301insTer)
|
|
|
NM_144596.4(TTC8):c.936del (p.Glu313fs)
|
|
|
NM_144612.6(LOXHD1):c.[4480C>T];[4714C>T]
|
|
|
NM_144628.4(TBC1D20):c.(70+1_71-1)_(*3107+1_?)del
|
|
|
NM_144628.4(TBC1D20):c.199C>T (p.Arg67Ter)
|
rs587777157
|
|
NM_144628.4(TBC1D20):c.292C>T (p.Gln98Ter)
|
rs587777158
|
|
NM_144628.4(TBC1D20):c.352_353del (p.Gln118fs)
|
rs587777159
|
|
NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter)
|
rs587777160
|
|
NM_144672.4(OTOA):c.1025A>T (p.Asp342Val)
|
rs1060499804
|
|
NM_144672.4(OTOA):c.1320+2T>C
|
rs1567381218
|
|
NM_144672.4(OTOA):c.1537del (p.Ala513fs)
|
|
|
NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs)
|
rs2141700836
|
|
NM_144672.4(OTOA):c.1765del (p.Gln589fs)
|
rs775776282
|
|
NM_144672.4(OTOA):c.3292C>T (p.Gln1098Ter)
|
|
|
NM_144672.4(OTOA):c.346C>T (p.Gln116Ter)
|
rs2141658932
|
|
NM_144672.4(OTOA):c.828del (p.Ser277fs)
|
rs751447996
|
|
NM_144772.3(NAXE):c.128C>A (p.Ser43Ter)
|
rs765587923
|
|
NM_144772.3(NAXE):c.177C>A (p.Tyr59Ter)
|
rs371872027
|
|
NM_144772.3(NAXE):c.229del (p.Gln77fs)
|
rs2102489197
|
|
NM_144772.3(NAXE):c.262G>T (p.Gly88Trp)
|
rs2102489248
|
|
NM_144772.3(NAXE):c.326dup (p.Thr110fs)
|
rs779820587
|
|
NM_144772.3(NAXE):c.536dup (p.Tyr180fs)
|
rs1677397982
|
|
NM_144772.3(NAXE):c.565G>A (p.Gly189Ser)
|
rs1677398842
|
|
NM_144772.3(NAXE):c.653A>T (p.Asp218Val)
|
rs886041064
|
|
NM_144772.3(NAXE):c.743del (p.Ala248fs)
|
rs886041063
|
|
NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del)
|
rs886041062
|
|
NM_145178.4(ATOH7):c.136A>C (p.Asn46His)
|
rs587777666
|
|
NM_145178.4(ATOH7):c.146A>T (p.Glu49Val)
|
rs587777664
|
|
NM_145178.4(ATOH7):c.53del (p.Pro18fs)
|
rs587777665
|
|
NM_145309.6(LRRC51):c.340_346del (p.Ile114fs)
|
rs759544282
|
|
NM_145861.4(EDARADD):c.120+1G>A
|
rs879255553
|
|
NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter)
|
rs766500689
|
|
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys)
|
rs74315309
|
|
NM_145861.4(EDARADD):c.469G>A (p.Glu157Lys)
|
|
|
NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu)
|
rs200017138
|
|
NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys)
|
rs1657345576
|
|
NM_145886.4(PIDD1):c.1804_1805del (p.Gly602fs)
|
rs2133768184
|
|
NM_145886.4(PIDD1):c.1909C>T (p.Arg637Ter)
|
|
|
NM_145886.4(PIDD1):c.202_203del (p.Arg68fs)
|
|
|
NM_145886.4(PIDD1):c.2116_2120del (p.Val706fs)
|
rs2133759109
|
|
NM_145886.4(PIDD1):c.2275-1G>A
|
rs2133753509
|
|
NM_145886.4(PIDD1):c.2587C>T (p.Gln863Ter)
|
rs1224174574
|
|
NM_147127.5(EVC2):c.104C>G (p.Ser35Ter)
|
rs2151750076
|
|
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs)
|
rs1553855127
|
|
NM_147127.5(EVC2):c.1082_1095del (p.Asn361fs)
|
|
|
NM_147127.5(EVC2):c.1090del (p.Gln363_Met364insTer)
|
|
|
NM_147127.5(EVC2):c.1108del (p.Ser370fs)
|
rs2108895910
|
|
NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter)
|
|
|
NM_147127.5(EVC2):c.1163del (p.Leu388fs)
|
|
|
NM_147127.5(EVC2):c.116G>A (p.Trp39Ter)
|
rs1345487794
|
|
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter)
|
rs2151750059
|
|
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter)
|
rs372215987
|
|
NM_147127.5(EVC2):c.1332del (p.Glu445fs)
|
|
|
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)
|
rs1477102573
|
|
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
|
|
|
NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter)
|
rs1717259479
|
|
NM_147127.5(EVC2):c.1410C>G (p.Tyr470Ter)
|
rs2108863739
|
|
NM_147127.5(EVC2):c.142_151del (p.Asp49fs)
|
rs1221185345
|
|
NM_147127.5(EVC2):c.1453_1459dup (p.Ala487fs)
|
|
|
NM_147127.5(EVC2):c.1470+1dup
|
rs1717244500
|
|
NM_147127.5(EVC2):c.1483_1484dup (p.Ser496fs)
|
rs2108851802
|
|
NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter)
|
|
|
NM_147127.5(EVC2):c.1529T>A (p.Leu510Ter)
|
rs2108851695
|
|
NM_147127.5(EVC2):c.1541_1542del (p.Leu514fs)
|
rs1560180583
|
|
NM_147127.5(EVC2):c.1588_1591del (p.Ala530fs)
|
|
|
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter)
|
rs1284395468
|
|
NM_147127.5(EVC2):c.1639del (p.Ser547fs)
|
rs2108851441
|
|
NM_147127.5(EVC2):c.1667_1668del (p.Pro556fs)
|
|
|
NM_147127.5(EVC2):c.1706del (p.Ile569fs)
|
|
|
NM_147127.5(EVC2):c.1755dup (p.Tyr586fs)
|
rs2108847232
|
|
NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter)
|
|
|
NM_147127.5(EVC2):c.1807_1808del (p.Gln603fs)
|
|
|
NM_147127.5(EVC2):c.1857_1866del (p.Gln619fs)
|
rs2108847014
|
|
NM_147127.5(EVC2):c.1939_1945del (p.Thr647fs)
|
|
|
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.1987G>T (p.Glu663Ter)
|
|
|
NM_147127.5(EVC2):c.1991dup (p.Lys665fs)
|
rs2108843224
|
|
NM_147127.5(EVC2):c.199_208del (p.Ser67fs)
|
rs1420414097
|
|
NM_147127.5(EVC2):c.199_208dup (p.Gly70fs)
|
|
|
NM_147127.5(EVC2):c.2010del (p.Lys670fs)
|
rs2108843186
|
|
NM_147127.5(EVC2):c.2017_2021del (p.Thr673fs)
|
rs2108843144
|
|
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter)
|
rs2108843158
|
|
NM_147127.5(EVC2):c.2026_2027insTTCT (p.Arg676fs)
|
|
|
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter)
|
rs73198165
|
|
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
|
|
|
NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)
|
|
|
NM_147127.5(EVC2):c.2057del (p.Gln686fs)
|
|
|
NM_147127.5(EVC2):c.205del (p.Ala69fs)
|
rs1400121444
|
|
NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter)
|
|
|
NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs)
|
rs1715829134
|
|
NM_147127.5(EVC2):c.207_211dup (p.Pro71fs)
|
|
|
NM_147127.5(EVC2):c.208_212dup (p.Glu72fs)
|
|
|
NM_147127.5(EVC2):c.2148_2149dup (p.His717fs)
|
|
|
NM_147127.5(EVC2):c.2150_2156del (p.His717fs)
|
|
|
NM_147127.5(EVC2):c.2161del (p.Leu721fs)
|
|
|
NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter)
|
rs2108839112
|
|
NM_147127.5(EVC2):c.2281del (p.Gln761fs)
|
|
|
NM_147127.5(EVC2):c.2332del (p.Glu778fs)
|
|
|
NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter)
|
|
|
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)
|
rs1577170055
|
|
NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter)
|
|
|
NM_147127.5(EVC2):c.2386_2387del (p.Arg796fs)
|
|
|
NM_147127.5(EVC2):c.2405del (p.Gly802fs)
|
rs2108838579
|
|
NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter)
|
|
|
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter)
|
rs1715768907
|
|
NM_147127.5(EVC2):c.24del (p.Arg9fs)
|
rs2151750195
|
|
NM_147127.5(EVC2):c.2516_2517delinsAG (p.Ser839Ter)
|
|
|
NM_147127.5(EVC2):c.2524_2536del (p.Ser842fs)
|
rs2108833500
|
|
NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter)
|
|
|
NM_147127.5(EVC2):c.253A>T (p.Lys85Ter)
|
rs2151739558
|
|
NM_147127.5(EVC2):c.2540_2549del (p.Glu847fs)
|
|
|
NM_147127.5(EVC2):c.2619_2629del (p.Arg874fs)
|
|
|
NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter)
|
|
|
NM_147127.5(EVC2):c.2637_2638dup (p.Phe880fs)
|
rs2108833230
|
|
NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter)
|
rs981099037
|
|
NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter)
|
|
|
NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)
|
|
|
NM_147127.5(EVC2):c.2729C>G (p.Ser910Ter)
|
rs2108829049
|
|
NM_147127.5(EVC2):c.273dup (p.Lys92Ter)
|
rs2151739536
|
|
NM_147127.5(EVC2):c.2746del (p.Ser916fs)
|
rs886037763
|
|
NM_147127.5(EVC2):c.2750del (p.Lys917fs)
|
|
|
NM_147127.5(EVC2):c.2796_2797del (p.Cys932_Glu933delinsTer)
|
rs765076649
|
|
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter)
|
rs1301855639
|
|
NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter)
|
|
|
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
|
|
|
NM_147127.5(EVC2):c.2867_2879del (p.Met956fs)
|
|
|
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
|
|
|
NM_147127.5(EVC2):c.2892del (p.Gln965fs)
|
|
|
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
|
|
|
NM_147127.5(EVC2):c.2893_2894del (p.Gln965fs)
|
|
|
NM_147127.5(EVC2):c.2897C>A (p.Ser966Ter)
|
rs145425340
|
|
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)
|
|
|
NM_147127.5(EVC2):c.2954del (p.Tyr985fs)
|
rs2108788549
|
|
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)
|
|
|
NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter)
|
rs60809236
|
|
NM_147127.5(EVC2):c.3057+1del
|
rs772639262
|
|
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs)
|
rs1391194715
|
|
NM_147127.5(EVC2):c.30dup (p.Thr11fs)
|
rs1442303442
|
|
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter)
|
rs200560762
|
|
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)
|
rs886037764
|
|
NM_147127.5(EVC2):c.314del (p.Lys105fs)
|
|
|
NM_147127.5(EVC2):c.3194del (p.Asp1065fs)
|
rs2108778725
|
|
NM_147127.5(EVC2):c.3239del (p.Lys1080fs)
|
rs1291275281
|
|
NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter)
|
|
|
NM_147127.5(EVC2):c.3252dup (p.Leu1085fs)
|
|
|
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs)
|
rs1722814486
|
|
NM_147127.5(EVC2):c.3360+1G>A
|
rs1553815019
|
|
NM_147127.5(EVC2):c.3374dup (p.Ser1126fs)
|
|
|
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs)
|
rs750396637
|
|
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs)
|
rs1722452431
|
|
NM_147127.5(EVC2):c.3454_3461del (p.Gln1152fs)
|
|
|
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs)
|
rs1722451930
|
|
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs)
|
rs778793911
|
|
NM_147127.5(EVC2):c.3487_3488dup (p.Glu1164fs)
|
rs2108770774
|
|
NM_147127.5(EVC2):c.3542_3543insACGA (p.Asp1181fs)
|
|
|
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter)
|
rs1305301849
|
|
NM_147127.5(EVC2):c.3634delinsGA (p.Leu1212fs)
|
rs1553812417
|
|
NM_147127.5(EVC2):c.3637_3638insTT (p.Trp1213fs)
|
|
|
NM_147127.5(EVC2):c.3640del (p.Ala1214fs)
|
rs1577095782
|
|
NM_147127.5(EVC2):c.3648_3649delinsTT (p.Lys1216_Arg1217delinsAsnTer)
|
rs2108767230
|
|
NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter)
|
rs369739594
|
|
NM_147127.5(EVC2):c.369_370del (p.Trp123fs)
|
|
|
NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter)
|
|
|
NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter)
|
rs769520928
|
|
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)
|
rs1577093161
|
|
NM_147127.5(EVC2):c.390dup (p.Ile131fs)
|
rs1253403779
|
|
NM_147127.5(EVC2):c.392dup (p.Pro132fs)
|
rs774416029
|
|
NM_147127.5(EVC2):c.420del (p.Phe140fs)
|
|
|
NM_147127.5(EVC2):c.437_438dup (p.Thr147Ter)
|
|
|
NM_147127.5(EVC2):c.449del (p.Leu150fs)
|
|
|
NM_147127.5(EVC2):c.50dup (p.Leu18fs)
|
rs1553855151
|
|
NM_147127.5(EVC2):c.519+1G>A
|
|
|
NM_147127.5(EVC2):c.519+2T>C
|
rs1721102486
|
|
NM_147127.5(EVC2):c.519+2T>G
|
|
|
NM_147127.5(EVC2):c.534dup (p.Glu179Ter)
|
rs1553851462
|
|
NM_147127.5(EVC2):c.557G>A (p.Trp186Ter)
|
|
|
NM_147127.5(EVC2):c.599_602dup (p.Glu202fs)
|
|
|
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter)
|
rs779857359
|
|
NM_147127.5(EVC2):c.655G>T (p.Gly219Ter)
|
rs745404766
|
|
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter)
|
rs999964757
|
|
NM_147127.5(EVC2):c.670dup (p.Glu224fs)
|
|
|
NM_147127.5(EVC2):c.703C>T (p.Gln235Ter)
|
|
|
NM_147127.5(EVC2):c.707-2A>C
|
rs1302074641
|
|
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter)
|
rs1553850677
|
|
NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)
|
|
|
NM_147127.5(EVC2):c.802C>T (p.Gln268Ter)
|
rs2151728030
|
|
NM_147127.5(EVC2):c.80dup (p.Arg28fs)
|
|
|
NM_147127.5(EVC2):c.816+1G>T
|
rs1355905411
|
|
NM_147127.5(EVC2):c.816+2T>C
|
rs1294715119
|
|
NM_147127.5(EVC2):c.820A>T (p.Arg274Ter)
|
rs2151724149
|
|
NM_147127.5(EVC2):c.821_824del (p.Arg274fs)
|
rs1368193719
|
|
NM_147127.5(EVC2):c.826_827del (p.Gln276fs)
|
rs758841632
|
|
NM_147127.5(EVC2):c.850del (p.Thr284fs)
|
rs886044525
|
|
NM_147127.5(EVC2):c.86del (p.Gly29fs)
|
|
|
NM_147127.5(EVC2):c.871-2_894del
|
rs755789146
|
|
NM_147127.5(EVC2):c.876_892dup (p.His298fs)
|
rs2108900159
|
|
NM_147127.5(EVC2):c.903del (p.Phe302fs)
|
rs1560208675
|
|
NM_147127.5(EVC2):c.90_91delinsAT (p.Cys30_Leu31delinsTer)
|
|
|
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)
|
rs763363403
|
|
NM_147196.3(TMIE):c.122_125del (p.Pro41fs)
|
rs876661301
|
|
NM_147196.3(TMIE):c.144_145del (p.Val49fs)
|
rs1700545926
|
|
NM_147196.3(TMIE):c.170G>A (p.Trp57Ter)
|
rs267607120
|
|
NM_147196.3(TMIE):c.94-2_98delinsC
|
rs876657371
|
|
NM_148919.4(PSMB8):c.108_118del (p.Met37fs)
|
|
|
NM_148919.4(PSMB8):c.227_230dup (p.Phe78fs)
|
|
|
NM_148919.4(PSMB8):c.313A>C (p.Lys105Gln)
|
rs1554239543
|
|
NM_148919.4(PSMB8):c.31dup (p.Arg11fs)
|
rs775701157
|
|
NM_148919.4(PSMB8):c.383del (p.Glu128fs)
|
|
|
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter)
|
rs146254972
|
|
NM_148919.4(PSMB8):c.481C>T (p.Gln161Ter)
|
rs2127377117
|
|
NM_148919.4(PSMB8):c.50C>A (p.Ser17Ter)
|
|
|
NM_148919.4(PSMB8):c.602G>T (p.Gly201Val)
|
rs387906680
|
|
NM_148919.4(PSMB8):c.608_611dup (p.Asn204fs)
|
rs1769913209
|
|
NM_152305.3(POGLUT1):c.170A>G (p.Tyr57Cys)
|
|
|
NM_152305.3(POGLUT1):c.292C>T (p.Arg98Trp)
|
|
|
NM_152305.3(POGLUT1):c.356T>C (p.Ile119Thr)
|
|
|
NM_152305.3(POGLUT1):c.547C>T (p.Arg183Trp)
|
|
|
NM_152305.3(POGLUT1):c.552G>A (p.Trp184Ter)
|
rs1560034617
|
|
NM_152305.3(POGLUT1):c.699T>G (p.Asp233Glu)
|
rs550944082
|
|
NM_152305.3(POGLUT1):c.836G>A (p.Arg279Gln)
|
|
|
NM_152384.2(BBS5):c.925_931del
|
|
|
NM_152384.3(BBS5):c.123del (p.Gly42fs)
|
rs1272140892
|
|
NM_152384.3(BBS5):c.143-1G>A
|
rs1054138918
|
|
NM_152384.3(BBS5):c.164T>C (p.Leu55Ser)
|
|
|
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly)
|
rs1559121920
|
|
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)
|
rs767221160
|
|
NM_152384.3(BBS5):c.198del (p.Val67fs)
|
|
|
NM_152384.3(BBS5):c.1A>G (p.Met1Val)
|
rs536117380
|
|
NM_152384.3(BBS5):c.1A>T (p.Met1Leu)
|
|
|
NM_152384.3(BBS5):c.258+2T>C
|
rs1559122157
|
|
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)
|
rs1683515617
|
|
NM_152384.3(BBS5):c.406del (p.Met136fs)
|
rs2105297751
|
|
NM_152384.3(BBS5):c.420dup (p.Lys141Ter)
|
|
|
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)
|
rs1574339529
|
|
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)
|
rs1574339529
|
|
NM_152384.3(BBS5):c.444del (p.Asn149fs)
|
|
|
NM_152384.3(BBS5):c.520C>T (p.Gln174Ter)
|
rs2105297825
|
|
NM_152384.3(BBS5):c.522+3A>G
|
rs587777828
|
|
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)
|
rs121908582
|
|
NM_152384.3(BBS5):c.54dup (p.Ala19fs)
|
|
|
NM_152384.3(BBS5):c.550_552dup (p.Asn184_Val185insAsn)
|
|
|
NM_152384.3(BBS5):c.556_557delinsTA (p.Arg186Ter)
|
|
|
NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs)
|
rs1683644409
|
|
NM_152384.3(BBS5):c.562dup (p.Val188fs)
|
|
|
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)
|
rs1683644662
|
|
NM_152384.3(BBS5):c.58C>T (p.Gln20Ter)
|
|
|
NM_152384.3(BBS5):c.5_8dup (p.Leu4fs)
|
|
|
NM_152384.3(BBS5):c.655del (p.Ala219fs)
|
rs2105300418
|
|
NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer)
|
rs1471916487
|
|
NM_152384.3(BBS5):c.844G>T (p.Glu282Ter)
|
|
|
NM_152384.3(BBS5):c.925C>T (p.Gln309Ter)
|
rs2105304338
|
|
NM_152384.3(BBS5):c.944_960del (p.Val315fs)
|
|
|
NM_152384.3:c.(?_-60)_(386+1_387-1)del
|
|
|
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)
|
rs766631462
|
|
NM_152443.3(RDH12):c.189del (p.Ala64fs)
|
|
|
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)
|
rs761167763
|
|
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)
|
rs753959716
|
|
NM_152443.3(RDH12):c.68+1G>A
|
rs2140138146
|
|
NM_152443.3(RDH12):c.784del (p.Ala262fs)
|
rs1594867551
|
|
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)
|
rs386834261
|
|
NM_152443.3(RDH12):c.848+2T>C
|
rs878853338
|
|
NM_152524.5:c.1453_1454delGA,NM_012130.3:c.254T>A
|
|
|
NM_152617.4(RNF168):c.1323_1326del (p.Gln442fs)
|
rs1047608955
|
|
NM_152617.4(RNF168):c.397dup (p.Ala133fs)
|
rs1577516447
|
|
NM_152618.3(BBS12):c.1007del (p.Thr336fs)
|
|
|
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)
|
rs1553941369
|
|
NM_152618.3(BBS12):c.1048C>T (p.Gln350Ter)
|
rs1375925950
|
|
NM_152618.3(BBS12):c.1069_1097del (p.Val357fs)
|
|
|
NM_152618.3(BBS12):c.1082_1083insGGGT (p.Asp362fs)
|
rs2150736842
|
|
NM_152618.3(BBS12):c.1082del (p.Gly361fs)
|
rs1057517193
|
|
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs)
|
rs1800908907
|
|
NM_152618.3(BBS12):c.1088_1089del (p.Leu363fs)
|
rs2150736854
|
|
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
|
rs587777803
|
|
NM_152618.3(BBS12):c.1117_1118insT (p.Asn373fs)
|
|
|
NM_152618.3(BBS12):c.1149del (p.Asp383fs)
|
|
|
NM_152618.3(BBS12):c.1151del (p.Ser384fs)
|
rs1553941404
|
|
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter)
|
rs747159816
|
|
NM_152618.3(BBS12):c.1186_1187del (p.Trp396fs)
|
|
|
NM_152618.3(BBS12):c.1188G>A (p.Trp396Ter)
|
|
|
NM_152618.3(BBS12):c.1193dup (p.Asn398fs)
|
rs2150736986
|
|
NM_152618.3(BBS12):c.1204C>T (p.Gln402Ter)
|
|
|
NM_152618.3(BBS12):c.1208dup (p.Leu404fs)
|
|
|
NM_152618.3(BBS12):c.1246G>T (p.Gly416Ter)
|
|
|
NM_152618.3(BBS12):c.1267del (p.Ile423fs)
|
rs1578491135
|
|
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr)
|
rs886059058
|
|
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)
|
rs766741204
|
|
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs)
|
rs1553941433
|
|
NM_152618.3(BBS12):c.1372dup (p.Thr458fs)
|
rs1195341481
|
|
NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs)
|
rs2150737232
|
|
NM_152618.3(BBS12):c.1394_1395del (p.Val465fs)
|
rs2150737232
|
|
NM_152618.3(BBS12):c.1455del (p.Asn485fs)
|
rs2150737331
|
|
NM_152618.3(BBS12):c.1463_1464del (p.Ile488fs)
|
rs2150737344
|
|
NM_152618.3(BBS12):c.1480dup (p.Thr494fs)
|
|
|
NM_152618.3(BBS12):c.1483_1484del (p.Glu495fs)
|
rs587777802
|
|
NM_152618.3(BBS12):c.1515_1518del (p.Asn506fs)
|
|
|
NM_152618.3(BBS12):c.1522_1523insGG (p.Val508fs)
|
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152618.3(BBS12):c.1554del (p.Arg518fs)
|
|
|
NM_152618.3(BBS12):c.1559G>A (p.Trp520Ter)
|
|
|
NM_152618.3(BBS12):c.1577dup (p.Leu526fs)
|
rs1800926856
|
|
NM_152618.3(BBS12):c.1589T>C (p.Leu530Pro)
|
|
|
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)
|
rs755314355
|
|
NM_152618.3(BBS12):c.1616del (p.Gly539fs)
|
|
|
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val)
|
rs1010403072
|
|
NM_152618.3(BBS12):c.1626del (p.Glu543fs)
|
|
|
NM_152618.3(BBS12):c.1627G>A (p.Glu543Lys)
|
rs1800928868
|
|
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)
|
rs2150737598
|
|
NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)
|
|
|
NM_152618.3(BBS12):c.1673del (p.Leu558fs)
|
|
|
NM_152618.3(BBS12):c.1685del (p.Asn562fs)
|
|
|
NM_152618.3(BBS12):c.168del (p.Glu58fs)
|
|
|
NM_152618.3(BBS12):c.1705del (p.Leu569fs)
|
rs2150737655
|
|
NM_152618.3(BBS12):c.1719del (p.Ser574fs)
|
|
|
NM_152618.3(BBS12):c.1724G>A (p.Trp575Ter)
|
rs2150737680
|
|
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)
|
rs759455327
|
|
NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter)
|
rs1800931751
|
|
NM_152618.3(BBS12):c.1756del (p.Thr586fs)
|
|
|
NM_152618.3(BBS12):c.1786C>T (p.Gln596Ter)
|
|
|
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)
|
|
|
NM_152618.3(BBS12):c.1813_1814del (p.Asn605fs)
|
rs764074545
|
|
NM_152618.3(BBS12):c.1816_1817del (p.Thr606fs)
|
|
|
NM_152618.3(BBS12):c.1827C>G (p.Tyr609Ter)
|
rs1800933874
|
|
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)
|
rs1560708847
|
|
NM_152618.3(BBS12):c.189del (p.Ser64fs)
|
rs2150735961
|
|
NM_152618.3(BBS12):c.1918del (p.Tyr640fs)
|
|
|
NM_152618.3(BBS12):c.1920_1921del (p.Tyr640_Ser641delinsTer)
|
|
|
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.2019del (p.Trp673fs)
|
rs2150738027
|
|
NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)
|
|
|
NM_152618.3(BBS12):c.2036del (p.Asp678_Leu679insTer)
|
|
|
NM_152618.3(BBS12):c.2043_2052del (p.Leu681fs)
|
|
|
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter)
|
rs746020725
|
|
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs)
|
rs746478265
|
|
NM_152618.3(BBS12):c.2068dup (p.Ile690fs)
|
|
|
NM_152618.3(BBS12):c.2092_2093del (p.Gln698fs)
|
|
|
NM_152618.3(BBS12):c.2099del (p.Asn700fs)
|
|
|
NM_152618.3(BBS12):c.223del (p.Gln75fs)
|
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
NM_152618.3(BBS12):c.270del (p.Val92fs)
|
rs1173504533
|
|
NM_152618.3(BBS12):c.27_30del (p.Asn9fs)
|
rs2150735761
|
|
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg)
|
rs151344630
|
|
NM_152618.3(BBS12):c.337_339del (p.Val113del)
|
rs587777801
|
|
NM_152618.3(BBS12):c.398del (p.Pro133fs)
|
rs750185673
|
|
NM_152618.3(BBS12):c.420_423del (p.Cys140fs)
|
|
|
NM_152618.3(BBS12):c.422dup (p.Met141fs)
|
rs1800890010
|
|
NM_152618.3(BBS12):c.424dup (p.Asp142fs)
|
rs1553941258
|
|
NM_152618.3(BBS12):c.427del (p.Ser143fs)
|
|
|
NM_152618.3(BBS12):c.469_470del (p.Leu157fs)
|
rs2150736228
|
|
NM_152618.3(BBS12):c.476del (p.Pro159fs)
|
|
|
NM_152618.3(BBS12):c.49dup (p.Gln17fs)
|
rs756061536
|
|
NM_152618.3(BBS12):c.572_576del (p.Gly191fs)
|
|
|
NM_152618.3(BBS12):c.58del (p.Ser20fs)
|
rs2150735809
|
|
NM_152618.3(BBS12):c.590_591del (p.Ser196_Tyr197insTer)
|
rs1560706958
|
|
NM_152618.3(BBS12):c.655_658del (p.Ser219fs)
|
|
|
NM_152618.3(BBS12):c.670dup (p.Thr224fs)
|
rs1339432710
|
|
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)
|
rs769588983
|
|
NM_152618.3(BBS12):c.683del (p.Gln228fs)
|
rs2150736424
|
|
NM_152618.3(BBS12):c.694dup (p.Ile232fs)
|
rs2150736431
|
|
NM_152618.3(BBS12):c.695_731del (p.Ile232fs)
|
|
|
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.787dup (p.Tyr263fs)
|
rs1553941312
|
|
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)
|
rs974173261
|
|
NM_152618.3(BBS12):c.80del (p.Arg27fs)
|
|
|
NM_152618.3(BBS12):c.867_874del (p.Val290fs)
|
rs2150736605
|
|
NM_152618.3(BBS12):c.869_873del (p.Val290fs)
|
rs1283655166
|
|
NM_152618.3(BBS12):c.890_893del (p.Ala297fs)
|
rs2150736616
|
|
NM_152618.3(BBS12):c.911_912del (p.Cys304fs)
|
rs2150736648
|
|
NM_152618.3(BBS12):c.925_926del (p.Met309fs)
|
rs1800904262
|
|
NM_152618.3(BBS12):c.940A>G (p.Arg314Gly)
|
rs749107412
|
|
NM_152618.3(BBS12):c.95del (p.Pro32fs)
|
|
|
NM_153002.3(GPR156):c.1863dup (p.His622fs)
|
|
|
NM_153002.3(GPR156):c.600G>A (p.Thr200=)
|
|
|
NM_153240.5(NPHP3):c.1040dup (p.Asn347fs)
|
rs2107996325
|
|
NM_153240.5(NPHP3):c.1079G>C (p.Ser360Thr)
|
rs119456960
|
|
NM_153240.5(NPHP3):c.1087_1090del (p.Val363fs)
|
rs1576682880
|
|
NM_153240.5(NPHP3):c.1094_1098del (p.Leu365fs)
|
|
|
NM_153240.5(NPHP3):c.1124T>A (p.Leu375Ter)
|
|
|
NM_153240.5(NPHP3):c.1164del (p.Gly389fs)
|
rs2107990671
|
|
NM_153240.5(NPHP3):c.1289C>G (p.Ser430Ter)
|
|
|
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
|
rs1456714047
|
|
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
|
|
|
NM_153240.5(NPHP3):c.166_167delinsTA (p.Gly56Ter)
|
|
|
NM_153240.5(NPHP3):c.1675del (p.His559fs)
|
|
|
NM_153240.5(NPHP3):c.1706C>G (p.Ser569Ter)
|
|
|
NM_153240.5(NPHP3):c.1832_1833del (p.Ser611fs)
|
rs780165789
|
|
NM_153240.5(NPHP3):c.1976del (p.Pro659fs)
|
rs1939543636
|
|
NM_153240.5(NPHP3):c.1985+1G>A
|
rs1553773271
|
|
NM_153240.5(NPHP3):c.2040del (p.Ile680_Ile681insTer)
|
rs757578685
|
|
NM_153240.5(NPHP3):c.2111_2112del (p.Cys704fs)
|
rs2107976854
|
|
NM_153240.5(NPHP3):c.2218C>T (p.Gln740Ter)
|
|
|
NM_153240.5(NPHP3):c.2387G>A (p.Trp796Ter)
|
rs2107971687
|
|
NM_153240.5(NPHP3):c.2702_2703del (p.Phe901fs)
|
|
|
NM_153240.5(NPHP3):c.273C>A (p.Tyr91Ter)
|
|
|
NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer)
|
rs758558609
|
|
NM_153240.5(NPHP3):c.2880_2883del (p.Ser960fs)
|
rs1939234862
|
|
NM_153240.5(NPHP3):c.2956dup (p.Gln986fs)
|
rs1560002147
|
|
NM_153240.5(NPHP3):c.2985C>G (p.Tyr995Ter)
|
rs777768843
|
|
NM_153240.5(NPHP3):c.3003del (p.Phe1001fs)
|
rs1560002113
|
|
NM_153240.5(NPHP3):c.30del (p.Ala11fs)
|
rs1311592052
|
|
NM_153240.5(NPHP3):c.3118C>T (p.Gln1040Ter)
|
|
|
NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter)
|
rs758238787
|
|
NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs)
|
rs771215577
|
|
NM_153240.5(NPHP3):c.3255_3256dup (p.Gly1086fs)
|
|
|
NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter)
|
rs1560000875
|
|
NM_153240.5(NPHP3):c.3402_3403del (p.Ala1135fs)
|
rs746849675
|
|
NM_153240.5(NPHP3):c.3439G>T (p.Glu1147Ter)
|
rs2107963367
|
|
NM_153240.5(NPHP3):c.3576del (p.Lys1192fs)
|
|
|
NM_153240.5(NPHP3):c.3608del (p.Ala1203fs)
|
rs1060499938
|
|
NM_153240.5(NPHP3):c.3726T>A (p.Tyr1242Ter)
|
|
|
NM_153240.5(NPHP3):c.372_376del (p.Lys124fs)
|
rs1940240492
|
|
NM_153240.5(NPHP3):c.3787del (p.Thr1263fs)
|
rs2107961294
|
|
NM_153240.5(NPHP3):c.3810dup (p.Ser1271Ter)
|
|
|
NM_153240.5(NPHP3):c.3812+1G>T
|
rs1459151671
|
|
NM_153240.5(NPHP3):c.3820G>T (p.Gly1274Ter)
|
rs1939045407
|
|
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del)
|
rs119456959
|
|
NM_153240.5(NPHP3):c.3837dup (p.Ala1280fs)
|
rs1559998795
|
|
NM_153240.5(NPHP3):c.391C>T (p.Gln131Ter)
|
|
|
NM_153240.5(NPHP3):c.406del (p.Thr136fs)
|
rs1379989124
|
|
NM_153240.5(NPHP3):c.410del (p.Tyr137fs)
|
rs1560017690
|
|
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs)
|
rs763300393
|
|
NM_153240.5(NPHP3):c.436del (p.Ser146fs)
|
rs1940156340
|
|
NM_153240.5(NPHP3):c.457C>T (p.Gln153Ter)
|
|
|
NM_153240.5(NPHP3):c.520-1G>T
|
rs759262253
|
|
NM_153240.5(NPHP3):c.60C>G (p.Tyr20Ter)
|
rs773521620
|
|
NM_153240.5(NPHP3):c.634dup (p.Glu212fs)
|
rs747052534
|
|
NM_153240.5(NPHP3):c.707_716del (p.Ala236fs)
|
rs1349623728
|
|
NM_153676.4(USH1C):c.1019+5G>C
|
rs1592002789
|
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
NM_153676.4(USH1C):c.2227-1G>A
|
rs778110397
|
|
NM_153676.4(USH1C):c.2380+1G>C
|
rs1060499916
|
|
NM_153676.4(USH1C):c.238del (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.2491-1G>T
|
rs1565017125
|
|
NM_153676.4(USH1C):c.263del (p.Val88fs)
|
rs1850961650
|
|
NM_153676.4(USH1C):c.348_373del (p.His116fs)
|
rs2133917820
|
|
NM_153676.4(USH1C):c.36+1G>T
|
rs1403777293
|
|
NM_153676.4(USH1C):c.388-1G>A
|
rs1364331716
|
|
NM_153676.4(USH1C):c.496+1G>A
|
rs138138689
|
|
NM_153676.4(USH1C):c.496+1G>T
|
rs138138689
|
|
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9]
|
rs55983148
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
NM_153676.4(USH1C):c.580-2A>T
|
rs1850678559
|
|
NM_153676.4(USH1C):c.777del (p.Glu260fs)
|
|
|
NM_153676.4(USH1C):c.7C>T (p.Arg3Ter)
|
rs876657624
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153700.2(STRC):c.2171_2174del (p.Val724fs)
|
rs786200883
|
|
NM_153700.2(STRC):c.2545C>T (p.Arg849Ter)
|
|
|
NM_153700.2(STRC):c.3156dup (p.Cys1053fs)
|
rs786200882
|
|
NM_153700.2(STRC):c.3499_4701+1del
|
|
|
NM_153700.2(STRC):c.3958G>T (p.Glu1320Ter)
|
rs1410072763
|
|
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)
|
rs376104748
|
|
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer)
|
rs1366021609
|
|
NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs)
|
rs727503442
|
|
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe)
|
rs727503441
|
|
NM_153700.2(STRC):c.583C>T (p.Gln195Ter)
|
rs774990944
|
|
NM_153700.2(STRC):c.[4057C>T];[4171C>G]
|
|
|
NM_153704.6(TMEM67):c.1057_1065+2del
|
rs1813838655
|
|
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)
|
rs137853107
|
|
NM_153704.6(TMEM67):c.1961-2A>C
|
rs758948621
|
|
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter)
|
rs1554558363
|
|
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
|
|
|
NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser)
|
rs267607116
|
|
NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg)
|
rs267607116
|
|
NM_153704.6(TMEM67):c.2556+1G>T
|
rs786200867
|
|
NM_153704.6(TMEM67):c.439C>T (p.Gln147Ter)
|
rs1554615516
|
|
NM_153704.6(TMEM67):c.869G>T (p.Trp290Leu)
|
rs267607117
|
|
NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)
|
|
|
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)
|
rs767913372
|
|
NM_153717.3(EVC):c.1047_1048del (p.Arg349fs)
|
rs745627738
|
|
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)
|
rs1553873969
|
|
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)
|
rs779915989
|
|
NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)
|
|
|
NM_153717.3(EVC):c.1086del (p.Glu362fs)
|
|
|
NM_153717.3(EVC):c.1114del (p.Thr372fs)
|
|
|
NM_153717.3(EVC):c.1122dup (p.Arg375fs)
|
|
|
NM_153717.3(EVC):c.1168C>T (p.Gln390Ter)
|
rs1560340266
|
|
NM_153717.3(EVC):c.1228G>T (p.Glu410Ter)
|
rs2152076522
|
|
NM_153717.3(EVC):c.1233dup (p.Lys412fs)
|
|
|
NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs)
|
rs1730623318
|
|
NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)
|
|
|
NM_153717.3(EVC):c.1290_1291delinsAA (p.Trp430_Gln431delinsTer)
|
rs2152076745
|
|
NM_153717.3(EVC):c.1312del (p.Arg438fs)
|
rs1560340993
|
|
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter)
|
rs1730760070
|
|
NM_153717.3(EVC):c.1373del (p.Gly458fs)
|
rs760607210
|
|
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs)
|
rs1553876034
|
|
NM_153717.3(EVC):c.1412_1413del (p.Arg471fs)
|
|
|
NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)
|
|
|
NM_153717.3(EVC):c.1494del (p.Arg498fs)
|
rs2152094799
|
|
NM_153717.3(EVC):c.1501C>T (p.Gln501Ter)
|
rs373088008
|
|
NM_153717.3(EVC):c.1539del (p.Glu514fs)
|
rs759106605
|
|
NM_153717.3(EVC):c.1554dup (p.Leu519fs)
|
rs1553876870
|
|
NM_153717.3(EVC):c.155del (p.Arg52fs)
|
rs1439712140
|
|
NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter)
|
|
|
NM_153717.3(EVC):c.157C>T (p.Gln53Ter)
|
|
|
NM_153717.3(EVC):c.1618del (p.Leu540fs)
|
|
|
NM_153717.3(EVC):c.1652del (p.Pro551fs)
|
rs1312383000
|
|
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
|
|
|
NM_153717.3(EVC):c.1657G>T (p.Glu553Ter)
|
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter)
|
rs751772225
|
|
NM_153717.3(EVC):c.1687G>T (p.Glu563Ter)
|
rs539010490
|
|
NM_153717.3(EVC):c.16del (p.Ala6fs)
|
rs2151766718
|
|
NM_153717.3(EVC):c.174+1G>T
|
rs2151768710
|
|
NM_153717.3(EVC):c.1746_1747del (p.Phe583fs)
|
rs2152289369
|
|
NM_153717.3(EVC):c.1750del (p.Gln584fs)
|
rs1736000365
|
|
NM_153717.3(EVC):c.1750dup (p.Gln584fs)
|
|
|
NM_153717.3(EVC):c.1777-2A>C
|
|
|
NM_153717.3(EVC):c.1783_1886+40del
|
rs2152326431
|
|
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)
|
rs1553889992
|
|
NM_153717.3(EVC):c.1818_1821del (p.His607fs)
|
rs2152326544
|
|
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)
|
rs1329006994
|
|
NM_153717.3(EVC):c.186_187del (p.Gln63fs)
|
|
|
NM_153717.3(EVC):c.1884_1885insCA (p.Glu629fs)
|
rs2152326770
|
|
NM_153717.3(EVC):c.1886+5G>A
|
rs794726665
|
|
NM_153717.3(EVC):c.1900del (p.Val634fs)
|
|
|
NM_153717.3(EVC):c.1971del (p.Thr658fs)
|
rs2152340509
|
|
NM_153717.3(EVC):c.1A>C (p.Met1Leu)
|
|
|
NM_153717.3(EVC):c.2029C>T (p.Gln677Ter)
|
|
|
NM_153717.3(EVC):c.203del (p.Asn68fs)
|
rs1560274093
|
|
NM_153717.3(EVC):c.2079G>A (p.Trp693Ter)
|
|
|
NM_153717.3(EVC):c.2088_2089dup (p.Arg697fs)
|
|
|
NM_153717.3(EVC):c.2089_2090del (p.Arg697fs)
|
|
|
NM_153717.3(EVC):c.2126_2129dup (p.Glu711fs)
|
|
|
NM_153717.3(EVC):c.2145_2146insGCCC (p.Gln716fs)
|
rs2152345583
|
|
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter)
|
rs1714412021
|
|
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)
|
rs1553891936
|
|
NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)
|
|
|
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
|
|
|
NM_153717.3(EVC):c.2365del (p.Leu789fs)
|
|
|
NM_153717.3(EVC):c.2376del (p.Tyr793fs)
|
rs1577638781
|
|
NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)
|
|
|
NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter)
|
|
|
NM_153717.3(EVC):c.2399_2408del (p.Ile800fs)
|
|
|
NM_153717.3(EVC):c.241dup (p.Ser81fs)
|
|
|
NM_153717.3(EVC):c.2457del (p.Met820fs)
|
rs794726666
|
|
NM_153717.3(EVC):c.2472dup (p.Leu825fs)
|
|
|
NM_153717.3(EVC):c.2488G>T (p.Glu830Ter)
|
rs2152375194
|
|
NM_153717.3(EVC):c.248C>G (p.Ser83Ter)
|
|
|
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)
|
rs1553857828
|
|
NM_153717.3(EVC):c.2518_2528del (p.Thr840fs)
|
|
|
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter)
|
rs561852174
|
|
NM_153717.3(EVC):c.2561+1G>A
|
rs1553894457
|
|
NM_153717.3(EVC):c.2561+1dup
|
rs2152375437
|
|
NM_153717.3(EVC):c.25A>T (p.Lys9Ter)
|
rs1425513399
|
|
NM_153717.3(EVC):c.2634_2635delinsTT (p.Gln878_Gln879delinsHisTer)
|
rs2152387847
|
|
NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)
|
|
|
NM_153717.3(EVC):c.267_274del (p.Glu89fs)
|
rs2151842413
|
|
NM_153717.3(EVC):c.2686C>T (p.Gln896Ter)
|
|
|
NM_153717.3(EVC):c.2698C>T (p.Gln900Ter)
|
rs1039706882
|
|
NM_153717.3(EVC):c.2705del (p.Phe902fs)
|
rs2152391901
|
|
NM_153717.3(EVC):c.2782+1del
|
rs1169539647
|
|
NM_153717.3(EVC):c.286A>T (p.Lys96Ter)
|
rs2151842550
|
|
NM_153717.3(EVC):c.2T>A (p.Met1Lys)
|
rs1553857801
|
|
NM_153717.3(EVC):c.338dup (p.Ala114fs)
|
rs2151919221
|
|
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193
|
|
NM_153717.3(EVC):c.369del (p.Asn124fs)
|
|
|
NM_153717.3(EVC):c.37_38del (p.Arg13fs)
|
rs1722986802
|
|
NM_153717.3(EVC):c.393del (p.Asp132fs)
|
rs1437174284
|
|
NM_153717.3(EVC):c.478_481del (p.Ser160fs)
|
rs2151935449
|
|
NM_153717.3(EVC):c.528del (p.Ser177fs)
|
rs1381525157
|
|
NM_153717.3(EVC):c.539C>A (p.Ser180Ter)
|
rs762136199
|
|
NM_153717.3(EVC):c.568dup (p.Arg190fs)
|
|
|
NM_153717.3(EVC):c.583del (p.Arg194_Val195insTer)
|
rs2151935987
|
|
NM_153717.3(EVC):c.596del (p.Pro199fs)
|
|
|
NM_153717.3(EVC):c.612C>A (p.Cys204Ter)
|
rs553634958
|
|
NM_153717.3(EVC):c.613G>T (p.Glu205Ter)
|
|
|
NM_153717.3(EVC):c.618-2A>G
|
|
|
NM_153717.3(EVC):c.62_68dup (p.Pro25fs)
|
|
|
NM_153717.3(EVC):c.635del (p.Cys212fs)
|
rs2151945937
|
|
NM_153717.3(EVC):c.641dup (p.Tyr214Ter)
|
|
|
NM_153717.3(EVC):c.653T>G (p.Leu218Ter)
|
|
|
NM_153717.3(EVC):c.673del (p.Asp225fs)
|
rs2151946081
|
|
NM_153717.3(EVC):c.698dup (p.His233fs)
|
rs1553867117
|
|
NM_153717.3(EVC):c.708dup (p.Ile237fs)
|
|
|
NM_153717.3(EVC):c.720dup (p.Lys241Ter)
|
rs1553871764
|
|
NM_153717.3(EVC):c.721A>T (p.Lys241Ter)
|
rs2152000498
|
|
NM_153717.3(EVC):c.724dup (p.Met242fs)
|
rs1577395250
|
|
NM_153717.3(EVC):c.735del (p.Asp246fs)
|
rs587776619
|
|
NM_153717.3(EVC):c.752dup (p.Lys252fs)
|
rs1553871792
|
|
NM_153717.3(EVC):c.784del (p.Leu262fs)
|
rs1560315890
|
|
NM_153717.3(EVC):c.784dup (p.Leu262fs)
|
|
|
NM_153717.3(EVC):c.788C>G (p.Ser263Ter)
|
rs2152001027
|
|
NM_153717.3(EVC):c.801dup (p.Asp268fs)
|
rs777852863
|
|
NM_153717.3(EVC):c.829C>T (p.Gln277Ter)
|
rs1251648799
|
|
NM_153717.3(EVC):c.872_873del (p.Asp290_Ser291insTer)
|
|
|
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs)
|
rs1729197529
|
|
NM_153717.3(EVC):c.90del (p.Ala31fs)
|
rs1196950486
|
|
NM_153717.3(EVC):c.910dup (p.Arg304fs)
|
rs1428798262
|
|
NM_153717.3(EVC):c.922_923del (p.Glu308fs)
|
rs1729200967
|
|
NM_153717.3(EVC):c.958C>T (p.Gln320Ter)
|
|
|
NM_153717.3(EVC):c.973C>T (p.Gln325Ter)
|
rs1729654379
|
|
NM_153717.3(EVC):c.986_987del (p.Val329fs)
|
|
|
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp)
|
rs1553259614
|
|
NM_153747.2(PIGC):c.859G>T (p.Glu287Ter)
|
|
|
NM_153816.2(SNX14):c.1108+1181_2108-2342del
|
|
|
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys)
|
rs201128942
|
|
NM_153816.6(SNX14):c.1608+1G>T
|
rs749656742
|
|
NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs)
|
rs1057519561
|
|
NM_153816.6(SNX14):c.1878del (p.Lys626fs)
|
|
|
NM_153816.6(SNX14):c.1894+1G>T
|
rs876657386
|
|
NM_153816.6(SNX14):c.2148+1G>T
|
|
|
NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter)
|
rs876657385
|
|
NM_153816.6(SNX14):c.428T>A (p.Leu143Ter)
|
rs876657387
|
|
NM_153816.6(SNX14):c.645dup (p.Glu216fs)
|
rs869320748
|
|
NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg)
|
rs202138002
|
|
NM_170682.4(P2RX2):c.178G>T (p.Val60Leu)
|
rs587777692
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)
|
rs267607547
|
|
NM_170707.4(LMNA):c.1821G>A (p.Val607=)
|
rs59886214
|
|
NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser)
|
rs61064130
|
|
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)
|
rs58596362
|
|
NM_170707.4(LMNA):c.1968+1G>A
|
rs113436208
|
|
NM_170707.4(LMNA):c.1968+5G>A
|
rs797044488
|
|
NM_170707.4(LMNA):c.550C>T (p.Gln184Ter)
|
rs1651341099
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
NM_170784.3(MKKS):c.-41_985+60del
|
|
|
NM_170784.3(MKKS):c.1013C>A (p.Ser338Ter)
|
rs2122226112
|
|
NM_170784.3(MKKS):c.1118del (p.Leu373fs)
|
|
|
NM_170784.3(MKKS):c.1149G>A (p.Trp383Ter)
|
|
|
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu)
|
rs1270369106
|
|
NM_170784.3(MKKS):c.1181del (p.Leu394fs)
|
rs2122223967
|
|
NM_170784.3(MKKS):c.1190del (p.Leu397fs)
|
|
|
NM_170784.3(MKKS):c.1225_1226del (p.Gly409fs)
|
rs1421664374
|
|
NM_170784.3(MKKS):c.1272+1G>A
|
rs755716827
|
|
NM_170784.3(MKKS):c.1272+2T>C
|
|
|
NM_170784.3(MKKS):c.1291_1337del (p.Ser431fs)
|
rs2122220131
|
|
NM_170784.3(MKKS):c.1351dup (p.Cys451fs)
|
|
|
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
|
|
|
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
|
|
|
NM_170784.3(MKKS):c.1478del (p.Leu493fs)
|
rs1568662687
|
|
NM_170784.3(MKKS):c.172_175dup (p.Gln59fs)
|
rs1600849412
|
|
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter)
|
rs1334961999
|
|
NM_170784.3(MKKS):c.175_176del (p.Gln59fs)
|
rs2122236167
|
|
NM_170784.3(MKKS):c.221del (p.Ile73_Leu74insTer)
|
|
|
NM_170784.3(MKKS):c.257C>A (p.Ser86Ter)
|
|
|
NM_170784.3(MKKS):c.281del (p.Phe94fs)
|
rs587777827
|
|
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg)
|
rs1297985227
|
|
NM_170784.3(MKKS):c.2T>A (p.Met1Lys)
|
|
|
NM_170784.3(MKKS):c.2T>G (p.Met1Arg)
|
|
|
NM_170784.3(MKKS):c.36dup (p.Lys13Ter)
|
|
|
NM_170784.3(MKKS):c.372_373insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAACATCTTTTG (p.Ser125delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_170784.3(MKKS):c.375_381dup (p.Ile128fs)
|
rs2122235619
|
|
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)
|
rs2122235362
|
|
NM_170784.3(MKKS):c.431_441del (p.Phe144fs)
|
rs113994195
|
|
NM_170784.3(MKKS):c.432_435del (p.Phe144fs)
|
rs1225932577
|
|
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
|
|
|
NM_170784.3(MKKS):c.456_459del (p.Cys152fs)
|
|
|
NM_170784.3(MKKS):c.47del (p.Pro16fs)
|
rs1224308508
|
|
NM_170784.3(MKKS):c.492T>A (p.Cys164Ter)
|
rs1568666460
|
|
NM_170784.3(MKKS):c.515_516del (p.Glu172fs)
|
rs2064904675
|
|
NM_170784.3(MKKS):c.592_593del (p.Lys198fs)
|
rs2064903228
|
|
NM_170784.3(MKKS):c.613A>T (p.Lys205Ter)
|
rs1555802009
|
|
NM_170784.3(MKKS):c.63_64del (p.Arg21fs)
|
rs754066841
|
|
NM_170784.3(MKKS):c.676C>T (p.Gln226Ter)
|
rs2122234652
|
|
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
|
|
|
NM_170784.3(MKKS):c.763dup (p.Thr255fs)
|
rs2122234387
|
|
NM_170784.3(MKKS):c.775del (p.Thr259fs)
|
rs759131391
|
|
NM_170784.3(MKKS):c.792T>A (p.Tyr264Ter)
|
rs74315397
|
|
NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter)
|
rs74315397
|
|
NM_170784.3(MKKS):c.867dup (p.Leu290fs)
|
rs2122234051
|
|
NM_170784.3(MKKS):c.873_876dup (p.Cys293fs)
|
rs113994196
|
|
NM_170784.3(MKKS):c.885dup (p.Val296fs)
|
|
|
NM_170784.3(MKKS):c.889dup (p.Ile297fs)
|
rs2122233990
|
|
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.958_959del (p.Leu320fs)
|
rs770908659
|
|
NM_170784.3(MKKS):c.966del (p.Glu322fs)
|
|
|
NM_170784.3(MKKS):c.97del (p.Ile32_Val33insTer)
|
rs2122236468
|
|
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)
|
rs864321707
|
|
NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr)
|
rs1316299165
|
|
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter)
|
rs104894652
|
|
NM_173477.5(USH1G):c.1324del (p.Ala442fs)
|
|
|
NM_173477.5(USH1G):c.143T>C (p.Leu48Pro)
|
rs104894651
|
|
NM_173477.5(USH1G):c.163_164+13del
|
|
|
NM_173477.5(USH1G):c.186_187del (p.Ile63fs)
|
rs730880268
|
|
NM_173477.5(USH1G):c.205dup (p.Leu69fs)
|
rs1598584825
|
|
NM_173477.5(USH1G):c.208_209insTC (p.His70fs)
|
rs1555627787
|
|
NM_173477.5(USH1G):c.387dup (p.Lys130fs)
|
rs2144755152
|
|
NM_173477.5(USH1G):c.394dup (p.Val132fs)
|
rs587776546
|
|
NM_173477.5(USH1G):c.711del (p.Arg238fs)
|
rs2144754031
|
|
NM_173477.5(USH1G):c.832_851del (p.Ser278fs)
|
rs397515345
|
|
NM_173477.5(USH1G):c.85dup (p.Asp29fs)
|
|
|
NM_173477.5(USH1G):c.956_960delinsA (p.Arg319fs)
|
|
|
NM_173491.4(LSM11):c.631G>A (p.Gly211Ser)
|
rs2113077087
|
|
NM_173543.3(DZIP1L):c.1061_1062del (p.Glu354fs)
|
rs1135402756
|
|
NM_173543.3(DZIP1L):c.273G>C (p.Gln91His)
|
rs1135402754
|
|
NM_173543.3(DZIP1L):c.463C>T (p.Gln155Ter)
|
rs1135402755
|
|
NM_173551.5(ANKS6):c.1096C>T (p.Gln366Ter)
|
|
|
NM_173551.5(ANKS6):c.1300del (p.Leu434fs)
|
|
|
NM_173551.5(ANKS6):c.130_157del (p.Glu44fs)
|
rs1564236717
|
|
NM_173551.5(ANKS6):c.1373G>A (p.Trp458Ter)
|
|
|
NM_173551.5(ANKS6):c.1672_1675dup (p.Pro559fs)
|
rs2118054723
|
|
NM_173551.5(ANKS6):c.1683_1698dup (p.Phe567fs)
|
|
|
NM_173551.5(ANKS6):c.189_190del (p.Ala64fs)
|
|
|
NM_173551.5(ANKS6):c.2054_2064del (p.His685fs)
|
rs587777024
|
|
NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer)
|
rs587777025
|
|
NM_173551.5(ANKS6):c.2394+1G>A
|
|
|
NM_173551.5(ANKS6):c.2512-2A>C
|
rs397514258
|
|
NM_173551.5(ANKS6):c.539_540del (p.Leu180fs)
|
rs1588420907
|
|
NM_173551.5(ANKS6):c.639G>A (p.Trp213Ter)
|
|
|
NM_173551.5(ANKS6):c.694_718dup (p.Val240fs)
|
rs1564228101
|
|
NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter)
|
rs756090222
|
|
NM_173551.5(ANKS6):c.907+2T>A
|
rs1438673595
|
|
NM_173685.4(NSMCE2):c.346del (p.Ser116fs)
|
rs757613817
|
|
NM_173685.4(NSMCE2):c.697_700dup (p.Ala234fs)
|
rs773917653
|
|
NM_173854.6(SLC41A1):c.698G>T (p.Gly233Val)
|
rs2102504055
|
|
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser)
|
rs1715589813
|
|
NM_174878.3(CLRN1):c.188_210del (p.Tyr63fs)
|
rs1553776036
|
|
NM_174878.3(CLRN1):c.254-2A>G
|
rs1713861377
|
|
NM_174878.3(CLRN1):c.301_305del (p.Val101fs)
|
rs397517932
|
|
NM_174878.3(CLRN1):c.323T>C (p.Leu108Pro)
|
rs1559982739
|
|
NM_174878.3(CLRN1):c.349_358del (p.Ala117fs)
|
rs1576631624
|
|
NM_174878.3(CLRN1):c.359T>A (p.Met120Lys)
|
rs121908141
|
|
NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro)
|
rs121908142
|
|
NM_174878.3(CLRN1):c.459_461del (p.Ile153_Leu154delinsMet)
|
rs1085307049
|
|
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)
|
rs746523071
|
|
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter)
|
rs376155416
|
|
NM_174878.3(CLRN1):c.65T>A (p.Leu22His)
|
rs1576651623
|
|
NM_174916.3(UBR1):c.1440-1G>A
|
rs1596118528
|
|
NM_174916.3(UBR1):c.2254+2T>C
|
rs2141312913
|
|
NM_174916.3(UBR1):c.2379+1G>C
|
|
|
NM_174916.3(UBR1):c.2839+5G>A
|
rs1596106023
|
|
NM_174916.3(UBR1):c.4054-2A>G
|
rs780491123
|
|
NM_174916.3(UBR1):c.407A>G (p.His136Arg)
|
rs119477054
|
|
NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter)
|
rs797045112
|
|
NM_174916.3(UBR1):c.529-13G>A
|
rs1265375100
|
|
NM_176824.3(BBS7):c.1002del (p.Asn335fs)
|
rs762782183
|
|
NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter)
|
rs1726067442
|
|
NM_176824.3(BBS7):c.1042G>T (p.Glu348Ter)
|
|
|
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)
|
rs773139166
|
|
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs)
|
rs577434138
|
|
NM_176824.3(BBS7):c.1093_1094del (p.Gln365fs)
|
rs2149068932
|
|
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs)
|
rs1725961307
|
|
NM_176824.3(BBS7):c.1250del (p.Leu417fs)
|
rs2149066862
|
|
NM_176824.3(BBS7):c.1306-1_1308del
|
|
|
NM_176824.3(BBS7):c.133dup (p.Met45fs)
|
|
|
NM_176824.3(BBS7):c.1378del (p.Ser460fs)
|
|
|
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter)
|
rs991365297
|
|
NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)
|
|
|
NM_176824.3(BBS7):c.1453C>T (p.Gln485Ter)
|
|
|
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter)
|
rs1470030897
|
|
NM_176824.3(BBS7):c.1471_1472del (p.Leu491fs)
|
rs1725388372
|
|
NM_176824.3(BBS7):c.1497dup (p.Ile500fs)
|
|
|
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
|
|
|
NM_176824.3(BBS7):c.1510A>T (p.Arg504Ter)
|
rs1725385758
|
|
NM_176824.3(BBS7):c.1579dup (p.Cys527fs)
|
|
|
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)
|
rs587777836
|
|
NM_176824.3(BBS7):c.1657C>T (p.Gln553Ter)
|
rs1394015094
|
|
NM_176824.3(BBS7):c.1659del (p.Gln553fs)
|
|
|
NM_176824.3(BBS7):c.1663G>T (p.Glu555Ter)
|
rs2149054103
|
|
NM_176824.3(BBS7):c.1668_1669delinsAT (p.Ser556_Thr557delinsArgSer)
|
|
|
NM_176824.3(BBS7):c.1677-2A>G
|
|
|
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)
|
rs878853352
|
|
NM_176824.3(BBS7):c.173dup (p.Lys59fs)
|
|
|
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
|
|
|
NM_176824.3(BBS7):c.1891-1G>A
|
rs2149048173
|
|
NM_176824.3(BBS7):c.1897C>T (p.Gln633Ter)
|
|
|
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)
|
rs672601379
|
|
NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs)
|
rs863224529
|
|
NM_176824.3(BBS7):c.288_289del (p.Gly97fs)
|
|
|
NM_176824.3(BBS7):c.386dup (p.Tyr129Ter)
|
|
|
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)
|
rs863224530
|
|
NM_176824.3(BBS7):c.399dup (p.Asp134Ter)
|
|
|
NM_176824.3(BBS7):c.423C>A (p.Tyr141Ter)
|
|
|
NM_176824.3(BBS7):c.488del (p.Pro163fs)
|
rs2149084861
|
|
NM_176824.3(BBS7):c.497C>T (p.Ala166Val)
|
rs1341540567
|
|
NM_176824.3(BBS7):c.500_501insTATGAG (p.Cys167_Gln168insMetSer)
|
rs1578564877
|
|
NM_176824.3(BBS7):c.502C>T (p.Gln168Ter)
|
|
|
NM_176824.3(BBS7):c.529-1dup
|
rs1726566546
|
|
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs)
|
rs1553933472
|
|
NM_176824.3(BBS7):c.569dup (p.Thr191fs)
|
|
|
NM_176824.3(BBS7):c.580_582del (p.Ala194del)
|
|
|
NM_176824.3(BBS7):c.585dup (p.His196fs)
|
|
|
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
|
|
|
NM_176824.3(BBS7):c.688T>C (p.Trp230Arg)
|
|
|
NM_176824.3(BBS7):c.68_77del (p.Leu23fs)
|
|
|
NM_176824.3(BBS7):c.690G>A (p.Trp230Ter)
|
|
|
NM_176824.3(BBS7):c.709_712del (p.Lys237fs)
|
rs587777812
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_176824.3(BBS7):c.719G>T (p.Gly240Val)
|
|
|
NM_176824.3(BBS7):c.72del (p.Pro25fs)
|
|
|
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter)
|
rs1560658189
|
|
NM_176824.3(BBS7):c.785_786del (p.Asp262fs)
|
|
|
NM_176824.3(BBS7):c.87_88del (p.His29fs)
|
rs1578577361
|
|
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg)
|
rs1726157542
|
|
NM_176824.3(BBS7):c.90_91del (p.Arg30fs)
|
|
|
NM_176824.3(BBS7):c.949C>G (p.Leu317Val)
|
rs869025207
|
|
NM_177398.4(LMX1A):c.290G>C (p.Cys97Ser)
|
rs1571177726
|
|
NM_177398.4(LMX1A):c.595A>G (p.Arg199Gly)
|
|
|
NM_177398.4(LMX1A):c.622C>T (p.Arg208Ter)
|
rs1396081975
|
|
NM_177398.4(LMX1A):c.721G>C (p.Val241Leu)
|
rs1571147567
|
|
NM_177400.3(NKX6-2):c.119del (p.Phe40fs)
|
rs2134707158
|
|
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter)
|
rs1131692047
|
|
NM_177400.3(NKX6-2):c.196del (p.Arg66fs)
|
rs1554961118
|
|
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)
|
rs1131692048
|
|
NM_177400.3(NKX6-2):c.516C>G (p.Tyr172Ter)
|
rs2134706418
|
|
NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter)
|
rs776560015
|
|
NM_177400.3(NKX6-2):c.571C>T (p.Gln191Ter)
|
rs2134706311
|
|
NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter)
|
rs1565019976
|
|
NM_177400.3(NKX6-2):c.598C>T (p.Arg200Trp)
|
rs770310729
|
|
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)
|
rs1008088032
|
|
NM_177400.3(NKX6-2):c.606delinsTA (p.Lys202fs)
|
rs1565019932
|
|
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter)
|
rs1565019928
|
|
NM_177965.4(CFAP418):c.124del (p.Arg42fs)
|
rs1563477144
|
|
NM_177973.2(SULT2B1):c.364dup (p.Met122fs)
|
rs1114167425
|
|
NM_177973.2(SULT2B1):c.71+2T>A
|
rs1114167426
|
|
NM_178170.3(NEK8):c.1273C>T (p.His425Tyr)
|
rs118204032
|
|
NM_178170.3(NEK8):c.1330G>T (p.Glu444Ter)
|
|
|
NM_178170.3(NEK8):c.1359_1360del (p.His454fs)
|
rs1282492342
|
|
NM_178170.3(NEK8):c.1924C>T (p.Arg642Ter)
|
|
|
NM_178170.3(NEK8):c.743del (p.Pro248fs)
|
rs1555564134
|
|
NM_178170.3(NEK8):c.882_885del (p.Cys295fs)
|
rs2151732872
|
|
NM_178172.6(GPIHBP1):c.182-1G>T
|
rs2130672651
|
|
NM_178172.6(GPIHBP1):c.194G>C (p.Cys65Ser)
|
rs587777638
|
|
NM_178172.6(GPIHBP1):c.202T>G (p.Cys68Gly)
|
rs587777639
|
|
NM_178172.6(GPIHBP1):c.266G>T (p.Cys89Phe)
|
rs587777640
|
|
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg)
|
rs752728823
|
|
NM_178172.6(GPIHBP1):c.331A>C (p.Thr111Pro)
|
rs587777641
|
|
NM_178172.6(GPIHBP1):c.344A>C (p.Gln115Pro)
|
rs587777637
|
|
NM_178172.6(GPIHBP1):c.417_433del (p.Pro140fs)
|
rs587777642
|
|
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
|
rs145844329
|
|
NM_178335.3(CCDC50):c.1356_1386del (p.Asp452fs)
|
rs2108677025
|
|
NM_178335.3(CCDC50):c.1394_1401dup (p.Phe468fs)
|
rs2108677075
|
|
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val)
|
rs606231285
|
|
NM_181741.4(ORC4):c.1226del (p.Thr409fs)
|
rs797045852
|
|
NM_181741.4(ORC4):c.1A>G (p.Met1Val)
|
rs1085307083
|
|
NM_181742.3(ORC4):c.(-18+1_-17-1)_(762+1_773-1)del
|
|
|
NM_182548.4(LHFPL5):c.*16+1G>A
|
rs1445573930
|
|
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val)
|
rs1060499810
|
|
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer)
|
rs779841884
|
|
NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs)
|
rs2151070794
|
|
NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)
|
rs1554147220
|
|
NM_182548.4(LHFPL5):c.649+1del
|
rs1581972457
|
|
NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter)
|
rs1203553546
|
|
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter)
|
rs2096893099
|
|
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
|
|
|
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
|
|
|
NM_182961.4(SYNE1):c.11909_11910del (p.Met3970fs)
|
rs606231135
|
|
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs)
|
rs1564367104
|
|
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter)
|
rs1590463470
|
|
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs)
|
rs886042380
|
|
NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)
|
|
|
NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)
|
|
|
NM_182961.4(SYNE1):c.13021_13022del (p.Thr4341fs)
|
|
|
NM_182961.4(SYNE1):c.13299del (p.His4433fs)
|
rs1563130387
|
|
NM_182961.4(SYNE1):c.1369del (p.Asp457fs)
|
rs1554768245
|
|
NM_182961.4(SYNE1):c.13948C>T (p.Arg4650Ter)
|
rs866163858
|
|
NM_182961.4(SYNE1):c.14278del (p.His4760fs)
|
rs2153970781
|
|
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
|
|
|
NM_182961.4(SYNE1):c.14673del (p.Glu4892fs)
|
|
|
NM_182961.4(SYNE1):c.15049C>T (p.Gln5017Ter)
|
rs1563088209
|
|
NM_182961.4(SYNE1):c.15280del (p.Asp5094fs)
|
|
|
NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter)
|
rs1270730854
|
|
NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
|
|
|
NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs)
|
rs1291249200
|
|
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter)
|
rs781354327
|
|
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter)
|
rs772587027
|
|
NM_182961.4(SYNE1):c.16228C>T (p.Arg5410Ter)
|
rs761432453
|
|
NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter)
|
rs797046024
|
|
NM_182961.4(SYNE1):c.16804del (p.Met5602fs)
|
|
|
NM_182961.4(SYNE1):c.16815_16821dup (p.Glu5608fs)
|
rs886043923
|
|
NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter)
|
rs777656140
|
|
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter)
|
rs2153836962
|
|
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)
|
rs746328978
|
|
NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
|
|
|
NM_182961.4(SYNE1):c.17373C>A (p.Tyr5791Ter)
|
|
|
NM_182961.4(SYNE1):c.17628_17643del (p.Pro5877fs)
|
rs2153809530
|
|
NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)
|
|
|
NM_182961.4(SYNE1):c.17801del (p.Thr5934fs)
|
|
|
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs)
|
rs794727986
|
|
NM_182961.4(SYNE1):c.17872_17875del (p.Leu5958fs)
|
rs2153783491
|
|
NM_182961.4(SYNE1):c.18012+1G>T
|
rs1562842409
|
|
NM_182961.4(SYNE1):c.18141_18144del (p.Thr6048fs)
|
rs2153732048
|
|
NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter)
|
rs2153709458
|
|
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter)
|
rs910956017
|
|
NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)
|
|
|
NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
|
|
|
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter)
|
rs1258745040
|
|
NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)
|
|
|
NM_182961.4(SYNE1):c.19444del (p.Arg6482fs)
|
rs2153619687
|
|
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter)
|
rs1057520134
|
|
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs)
|
rs1385280819
|
|
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter)
|
rs766499430
|
|
NM_182961.4(SYNE1):c.20179del (p.Asp6727fs)
|
rs2153537904
|
|
NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)
|
|
|
NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)
|
|
|
NM_182961.4(SYNE1):c.20970del (p.Asp6991fs)
|
rs1554247806
|
|
NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
|
|
|
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter)
|
rs1554226673
|
|
NM_182961.4(SYNE1):c.21741C>A (p.Tyr7247Ter)
|
rs1269308421
|
|
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter)
|
rs138032057
|
|
NM_182961.4(SYNE1):c.21819del (p.Asp7273fs)
|
|
|
NM_182961.4(SYNE1):c.22369C>T (p.Gln7457Ter)
|
rs119103245
|
|
NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter)
|
rs1554573328
|
|
NM_182961.4(SYNE1):c.225+1del
|
rs2154353746
|
|
NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs)
|
rs1554553667
|
|
NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter)
|
rs119103244
|
|
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
|
|
|
NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
|
|
|
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)
|
rs1586296730
|
|
NM_182961.4(SYNE1):c.24537del (p.Leu8180fs)
|
|
|
NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)
|
|
|
NM_182961.4(SYNE1):c.24977-13_24996del
|
|
|
NM_182961.4(SYNE1):c.25006C>T (p.Arg8336Ter)
|
|
|
NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
|
|
|
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)
|
rs2098713648
|
|
NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
|
|
|
NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter)
|
rs2154254291
|
|
NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter)
|
rs1564136499
|
|
NM_182961.4(SYNE1):c.3130C>T (p.Arg1044Ter)
|
rs757719808
|
|
NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
|
|
|
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer)
|
rs1554721227
|
|
NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)
|
|
|
NM_182961.4(SYNE1):c.4044_4047del (p.Asn1348fs)
|
rs2098527248
|
|
NM_182961.4(SYNE1):c.4327del (p.Met1443fs)
|
|
|
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs)
|
rs794727577
|
|
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter)
|
rs757744079
|
|
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)
|
rs988770583
|
|
NM_182961.4(SYNE1):c.4609C>T (p.Arg1537Ter)
|
rs983431074
|
|
NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer)
|
rs1554829141
|
|
NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter)
|
rs771955377
|
|
NM_182961.4(SYNE1):c.4975_4976+8del
|
rs1592490234
|
|
NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter)
|
rs1563941569
|
|
NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter)
|
rs1554676394
|
|
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter)
|
rs2154194664
|
|
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)
|
rs1466752822
|
|
NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs)
|
rs2154182611
|
|
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
|
|
|
NM_182961.4(SYNE1):c.5895del (p.Leu1966fs)
|
rs2098158268
|
|
NM_182961.4(SYNE1):c.6226G>T (p.Glu2076Ter)
|
rs2098101022
|
|
NM_182961.4(SYNE1):c.6376del (p.Ser2126fs)
|
rs2154170060
|
|
NM_182961.4(SYNE1):c.639del (p.His214fs)
|
rs1412791793
|
|
NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter)
|
rs1417491327
|
|
NM_182961.4(SYNE1):c.67+1G>A
|
rs1213042460
|
|
NM_182961.4(SYNE1):c.6724-1G>A
|
rs2154157186
|
|
NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter)
|
rs2154151091
|
|
NM_182961.4(SYNE1):c.6877del (p.Glu2293fs)
|
rs797046026
|
|
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)
|
rs2154331501
|
|
NM_182961.4(SYNE1):c.7085dup (p.Asn2362fs)
|
rs2154147676
|
|
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
|
|
|
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
|
|
|
NM_182961.4(SYNE1):c.7911G>A (p.Trp2637Ter)
|
rs2154133792
|
|
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
|
|
|
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter)
|
rs946657984
|
|
NM_182961.4(SYNE1):c.8618C>G (p.Ser2873Ter)
|
rs1332414511
|
|
NM_182961.4(SYNE1):c.8636del (p.Lys2879fs)
|
rs2097516516
|
|
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter)
|
rs2154115529
|
|
NM_182961.4(SYNE1):c.8885del (p.Val2962fs)
|
rs750544827
|
|
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)
|
|
|
NM_182961.4(SYNE1):c.99del (p.Phe33fs)
|
|
|
NM_182961.4(SYNE1):c.[20263C>T;8889del]
|
|
|
NM_183065.4(TMEM107):c.*545_*826del
|
rs1983743862
|
|
NM_183065.4(TMEM107):c.*561_*566del
|
rs886039783
|
|
NM_183065.4(TMEM107):c.*608_*636dup
|
rs1555525654
|
|
NM_183065.4(TMEM107):c.*616T>C
|
rs368446612
|
|
NM_183065.4(TMEM107):c.*617C>A
|
rs117735243
|
|
NM_183065.4(TMEM107):c.*617C>T
|
rs117735243
|
|
NM_183065.4(TMEM107):c.*622G>A
|
rs201266955
|
|
NM_183065.4(TMEM107):c.*622G>C
|
rs201266955
|
|
NM_183065.4(TMEM107):c.*634C>T
|
rs545394298
|
|
NM_183065.4(TMEM107):c.*653G>C
|
rs200458465
|
|
NM_183065.4(TMEM107):c.*653G>T
|
rs200458465
|
|
NM_183065.4(TMEM107):c.*656G>A
|
rs148909909
|
|
NM_183065.4(TMEM107):c.*671G>T
|
rs886039784
|
|
NM_183065.4(TMEM107):c.*672A>G
|
rs755495846
|
|
NM_183065.4(TMEM107):c.*672dup
|
rs1983820983
|
|
NM_183065.4(TMEM107):c.*673T>G
|
rs752108301
|
|
NM_183065.4(TMEM107):c.*674G>C
|
rs780396107
|
|
NM_183065.4(TMEM107):c.*687T>G
|
rs754874209
|
|
NM_183065.4(TMEM107):c.*689A>C
|
rs1400162090
|
|
NM_183065.4(TMEM107):c.*695G>A
|
rs772667974
|
|
NM_183065.4(TMEM107):c.*695G>C
|
rs772667974
|
|
NM_183065.4(TMEM107):c.*696A>G
|
rs779456932
|
|
NM_183065.4(TMEM107):c.*714T>G
|
rs757122064
|
|
NM_183065.4(TMEM107):c.*717G>A
|
rs562912181
|
|
NM_183065.4(TMEM107):c.*718G>A
|
rs201686383
|
|
NM_183065.4(TMEM107):c.*740C>T
|
rs144429028
|
|
NM_183065.4(TMEM107):c.*741C>G
|
rs374135155
|
|
NM_183065.4(TMEM107):c.*744T>C
|
rs754582308
|
|
NM_183065.4(TMEM107):c.*745C>A
|
rs746503581
|
|
NM_183065.4(TMEM107):c.*745C>G
|
rs746503581
|
|
NM_183065.4(TMEM107):c.*751C>T
|
rs117595965
|
|
NM_183065.4(TMEM107):c.*755C>G
|
rs75008470
|
|
NM_183065.4(TMEM107):c.*755C>T
|
rs75008470
|
|
NM_183065.4(TMEM107):c.*760G>T
|
rs116395281
|
|
NM_194248.1:c.1912-2C>T
|
|
|
NM_194248.1:c.2295_2297delG
|
|
|
NM_194248.1:c.3704-3720delACCGCTCGGCCCCCAG
|
|
|
NM_194248.1:c.5860_5862delATC
|
|
|
NM_194248.1:c.766-2T>A
|
|
|
NM_194248.2(OTOF):c.[4227+1G>T];[5193-1G>A]
|
|
|
NM_194248.3(OTOF):c.1111G>C (p.Gly371Arg)
|
rs879255246
|
|
NM_194248.3(OTOF):c.1236del (p.Glu413fs)
|
rs397515581
|
|
NM_194248.3(OTOF):c.1364_1366delinsTTGC (p.Tyr455fs)
|
rs2148060432
|
|
NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter)
|
rs1403112959
|
|
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs)
|
rs1443739332
|
|
NM_194248.3(OTOF):c.1651del (p.Glu551fs)
|
rs80356587
|
|
NM_194248.3(OTOF):c.1801G>T (p.Glu601Ter)
|
rs1558489384
|
|
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp)
|
rs1558488902
|
|
NM_194248.3(OTOF):c.1946_1965del (p.Arg649fs)
|
rs1553353527
|
|
NM_194248.3(OTOF):c.1962del (p.Arg656fs)
|
|
|
NM_194248.3(OTOF):c.1962dup (p.Pro655fs)
|
rs751564248
|
|
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)
|
rs80356590
|
|
NM_194248.3(OTOF):c.2215-1G>C
|
|
|
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter)
|
rs397515591
|
|
NM_194248.3(OTOF):c.2348del (p.Gly783fs)
|
rs80356591
|
|
NM_194248.3(OTOF):c.2406+4A>G
|
rs2148051765
|
|
NM_194248.3(OTOF):c.2407-2del
|
|
|
NM_194248.3(OTOF):c.2443del (p.Gln815fs)
|
rs1558485249
|
|
NM_194248.3(OTOF):c.2866+1G>A
|
rs2148047884
|
|
NM_194248.3(OTOF):c.2867-5_2881del
|
rs1240121049
|
|
NM_194248.3(OTOF):c.2985C>A (p.Cys995Ter)
|
rs2148047301
|
|
NM_194248.3(OTOF):c.2989G>T (p.Glu997Ter)
|
rs1558482554
|
|
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro)
|
rs80356596
|
|
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter)
|
rs2148046428
|
|
NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter)
|
|
|
NM_194248.3(OTOF):c.3592dup (p.Leu1198fs)
|
|
|
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter)
|
rs1060499805
|
|
NM_194248.3(OTOF):c.4110_4120dup (p.Lys1374fs)
|
|
|
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter)
|
rs80356598
|
|
NM_194248.3(OTOF):c.4362+1G>C
|
rs1274464930
|
|
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)
|
rs147321712
|
|
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter)
|
rs80356600
|
|
NM_194248.3(OTOF):c.4885del (p.His1629fs)
|
rs2148026336
|
|
NM_194248.3(OTOF):c.4960+1G>C
|
rs80356602
|
|
NM_194248.3(OTOF):c.5193-1G>A
|
rs111033373
|
|
NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del)
|
rs2148021052
|
|
NM_194248.3(OTOF):c.5466C>G (p.Tyr1822Ter)
|
rs753580324
|
|
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala)
|
rs28937591
|
|
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val)
|
rs1558464965
|
|
NM_194248.3(OTOF):c.5788G>T (p.Glu1930Ter)
|
rs953404925
|
|
NM_194248.3(OTOF):c.5833del (p.Ile1945fs)
|
|
|
NM_194248.3(OTOF):c.766-2A>G
|
rs80356584
|
|
NM_194248.3(OTOF):c.897+5G>A
|
rs1553356452
|
|
NM_194292.3(SASS6):c.185T>C (p.Ile62Thr)
|
rs876661307
|
|
NM_194292.3(SASS6):c.1867+2T>A
|
rs1651181046
|
|
NM_194323.3(OTOF):c.3659C>G (p.Pro1220Arg)
|
rs121908598
|
|
NM_194323.3(OTOF):c.3691T>C (p.Ter1231Arg)
|
rs1157997148
|
|
NM_198309.3:c.(768+1_769-1)_(879+1_880-1)del
|
|
|
NM_198428.2(BBS9):c.(?_-1)_328+?del
|
|
|
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
|
|
|
NM_198428.3(BBS9):c.1027G>T (p.Gly343Ter)
|
|
|
NM_198428.3(BBS9):c.104_112+4del
|
rs869025208
|
|
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)
|
rs137852858
|
|
NM_198428.3(BBS9):c.1099C>T (p.Gln367Ter)
|
|
|
NM_198428.3(BBS9):c.113-2A>G
|
rs1562686929
|
|
NM_198428.3(BBS9):c.1195C>T (p.Gln399Ter)
|
|
|
NM_198428.3(BBS9):c.1277_1280del
|
rs2128646927
|
|
NM_198428.3(BBS9):c.1283_1286del (p.Thr428fs)
|
|
|
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter)
|
rs863224534
|
|
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.1624A>T (p.Lys542Ter)
|
|
|
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)
|
rs746797123
|
|
NM_198428.3(BBS9):c.1789+1G>A
|
rs201938124
|
|
NM_198428.3(BBS9):c.1789+1G>C
|
|
|
NM_198428.3(BBS9):c.1789+1G>T
|
rs201938124
|
|
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter)
|
rs948418225
|
|
NM_198428.3(BBS9):c.1812del (p.Glu604fs)
|
rs1229015450
|
|
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
|
rs606231137
|
|
NM_198428.3(BBS9):c.1999_2003del (p.Ser667fs)
|
|
|
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs)
|
rs1266192229
|
|
NM_198428.3(BBS9):c.2023del (p.Ala675fs)
|
|
|
NM_198428.3(BBS9):c.2045dup (p.Arg683fs)
|
rs587777810
|
|
NM_198428.3(BBS9):c.2097dup (p.Asp700fs)
|
rs2128756914
|
|
NM_198428.3(BBS9):c.2115+1G>A
|
rs886039801
|
|
NM_198428.3(BBS9):c.2223_2224delinsTT (p.Trp741_Gln742delinsCysTer)
|
|
|
NM_198428.3(BBS9):c.2245_2260del (p.Val749fs)
|
|
|
NM_198428.3(BBS9):c.2368G>T (p.Glu790Ter)
|
|
|
NM_198428.3(BBS9):c.244del (p.Glu82fs)
|
rs2128108391
|
|
NM_198428.3(BBS9):c.2503_2504dup (p.Gln835fs)
|
|
|
NM_198428.3(BBS9):c.2536del (p.Ile846fs)
|
rs1864348159
|
|
NM_198428.3(BBS9):c.2559_2562del (p.Glu853fs)
|
|
|
NM_198428.3(BBS9):c.263+1G>T
|
rs137962929
|
|
NM_198428.3(BBS9):c.263+4A>G
|
rs370916293
|
|
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter)
|
rs749974697
|
|
NM_198428.3(BBS9):c.27G>A (p.Trp9Ter)
|
|
|
NM_198428.3(BBS9):c.310del (p.Cys104fs)
|
rs747388658
|
|
NM_198428.3(BBS9):c.319dup (p.Ser107fs)
|
|
|
NM_198428.3(BBS9):c.358C>T (p.Gln120Ter)
|
|
|
NM_198428.3(BBS9):c.408C>A (p.Cys136Ter)
|
|
|
NM_198428.3(BBS9):c.421G>A (p.Gly141Arg)
|
rs137852857
|
|
NM_198428.3(BBS9):c.434del (p.Gly145fs)
|
|
|
NM_198428.3(BBS9):c.459C>A (p.Cys153Ter)
|
|
|
NM_198428.3(BBS9):c.542C>G (p.Pro181Arg)
|
rs779588488
|
|
NM_198428.3(BBS9):c.621_702+3del
|
|
|
NM_198428.3(BBS9):c.702+1G>A
|
rs2128325966
|
|
NM_198428.3(BBS9):c.727G>A (p.Glu243Lys)
|
rs1562917450
|
|
NM_198428.3(BBS9):c.751dup (p.Val251fs)
|
rs2128344662
|
|
NM_198428.3(BBS9):c.754del (p.Ser252fs)
|
rs2128344706
|
|
NM_198428.3(BBS9):c.763C>T (p.Gln255Ter)
|
|
|
NM_198428.3(BBS9):c.801_803del (p.Phe269del)
|
rs780367770
|
|
NM_198428.3(BBS9):c.808dup (p.Cys270fs)
|
|
|
NM_198428.3(BBS9):c.829del (p.Ile277fs)
|
|
|
NM_198428.3(BBS9):c.839dup (p.Met280fs)
|
|
|
NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer)
|
rs2128345173
|
|
NM_198428.3(BBS9):c.956del (p.Thr319fs)
|
rs886039799
|
|
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
|
|
|
NM_198999.3(SLC26A5):c.209G>A (p.Trp70Ter)
|
rs431905518
|
|
NM_198999.3(SLC26A5):c.390A>C (p.Arg130Ser)
|
rs431905517
|
|
NM_198999.3(SLC26A5):c.949del (p.Val317fs)
|
rs770663172
|
|
NM_199292.2(TH):c.-70G>A
|
rs1372180906
|
|
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)
|
rs62645754
|
|
NM_201253.3(CRB1):c.1431del (p.Ser478fs)
|
rs1553260321
|
|
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)
|
rs1571523319
|
|
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter)
|
rs772794324
|
|
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)
|
rs150412614
|
|
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
|
rs745348555
|
|
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter)
|
rs62636260
|
|
NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs)
|
rs1571544281
|
|
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro)
|
rs114630940
|
|
NM_201253.3(CRB1):c.281_282del (p.Phe94fs)
|
rs1571848166
|
|
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)
|
rs62645747
|
|
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)
|
rs369184026
|
|
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu)
|
rs1064797128
|
|
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)
|
rs1571557864
|
|
NM_201253.3(CRB1):c.3626_3627del (p.Val1209fs)
|
|
|
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)
|
rs1057520152
|
|
NM_201253.3(CRB1):c.4005+1G>A
|
rs890453675
|
|
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)
|
rs281865175
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer)
|
rs778731851
|
|
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)
|
rs1571878277
|
|
NM_201253.3(CRB1):c.[1208C>G];[1576C>T]
|
|
|
NM_201378.4(PLEC):c.1_9del (p.Met1_Gly3del)
|
rs864309673
|
|
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter)
|
rs2132991341
|
|
NM_201384.3(PLEC):c.10702G>T (p.Glu3568Ter)
|
|
|
NM_201384.3(PLEC):c.11187dup (p.Thr3730fs)
|
|
|
NM_201384.3(PLEC):c.1188_1192dup (p.Val398fs)
|
|
|
NM_201384.3(PLEC):c.11962dup (p.Glu3988fs)
|
rs864309674
|
|
NM_201384.3(PLEC):c.12201C>G (p.Tyr4067Ter)
|
|
|
NM_201384.3(PLEC):c.1240C>T (p.Gln414Ter)
|
rs1554719990
|
|
NM_201384.3(PLEC):c.12418C>T (p.Arg4140Ter)
|
rs1554671979
|
|
NM_201384.3(PLEC):c.12517G>T (p.Glu4173Ter)
|
|
|
NM_201384.3(PLEC):c.12926dup (p.Arg4310fs)
|
rs2130817714
|
|
NM_201384.3(PLEC):c.13106C>A (p.Ser4369Ter)
|
rs1554669959
|
|
NM_201384.3(PLEC):c.1465_1471del (p.Asn489fs)
|
rs2131949494
|
|
NM_201384.3(PLEC):c.1675C>T (p.Arg559Ter)
|
|
|
NM_201384.3(PLEC):c.2069_2073del (p.Arg690fs)
|
|
|
NM_201384.3(PLEC):c.2475dup (p.Asp826Ter)
|
|
|
NM_201384.3(PLEC):c.2503C>T (p.Gln835Ter)
|
rs2131772658
|
|
NM_201384.3(PLEC):c.2551del (p.Val851fs)
|
rs2131767962
|
|
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1])
|
rs786205252
|
|
NM_201384.3(PLEC):c.2623C>T (p.Gln875Ter)
|
|
|
NM_201384.3(PLEC):c.2917G>T (p.Glu973Ter)
|
|
|
NM_201384.3(PLEC):c.3874C>T (p.Gln1292Ter)
|
rs2131581257
|
|
NM_201384.3(PLEC):c.3973G>T (p.Glu1325Ter)
|
|
|
NM_201384.3(PLEC):c.4468C>T (p.Arg1490Ter)
|
rs1554702689
|
|
NM_201384.3(PLEC):c.448C>T (p.Gln150Ter)
|
|
|
NM_201384.3(PLEC):c.4534C>T (p.Gln1512Ter)
|
|
|
NM_201384.3(PLEC):c.4606C>T (p.Gln1536Ter)
|
rs2131471759
|
|
NM_201384.3(PLEC):c.4903C>T (p.Gln1635Ter)
|
|
|
NM_201384.3(PLEC):c.5024_5031del (p.Arg1675fs)
|
rs786205254
|
|
NM_201384.3(PLEC):c.5170C>T (p.Gln1724Ter)
|
rs2131422085
|
|
NM_201384.3(PLEC):c.5192dup (p.Leu1732fs)
|
|
|
NM_201384.3(PLEC):c.535C>T (p.Arg179Ter)
|
|
|
NM_201384.3(PLEC):c.5645_5646del (p.Glu1882fs)
|
|
|
NM_201384.3(PLEC):c.5689C>T (p.Gln1897Ter)
|
|
|
NM_201384.3(PLEC):c.5734del (p.Leu1912fs)
|
rs786205253
|
|
NM_201384.3(PLEC):c.5775_5782dup (p.Leu1928fs)
|
rs786205251
|
|
NM_201384.3(PLEC):c.6025del (p.Glu2009fs)
|
|
|
NM_201384.3(PLEC):c.6088C>T (p.Gln2030Ter)
|
rs387906801
|
|
NM_201384.3(PLEC):c.6217C>T (p.Gln2073Ter)
|
|
|
NM_201384.3(PLEC):c.6370C>T (p.Gln2124Ter)
|
|
|
NM_201384.3(PLEC):c.6510del (p.His2170fs)
|
rs2131325419
|
|
NM_201384.3(PLEC):c.7078G>T (p.Glu2360Ter)
|
rs2131284343
|
|
NM_201384.3(PLEC):c.7180C>T (p.Arg2394Ter)
|
rs886044894
|
|
NM_201384.3(PLEC):c.7312C>T (p.Arg2438Ter)
|
|
|
NM_201384.3(PLEC):c.7336G>T (p.Glu2446Ter)
|
rs376827900
|
|
NM_201384.3(PLEC):c.7425+1G>A
|
|
|
NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs)
|
rs1554689309
|
|
NM_201384.3(PLEC):c.7964_7968del (p.Ala2655fs)
|
|
|
NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs)
|
rs1186518181
|
|
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter)
|
rs1554686620
|
|
NM_201384.3(PLEC):c.8363_8366del (p.Leu2788fs)
|
|
|
NM_201384.3(PLEC):c.8776del (p.Glu2926fs)
|
|
|
NM_201384.3(PLEC):c.8807_8832dup (p.Phe2945fs)
|
|
|
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter)
|
rs137853161
|
|
NM_201384.3(PLEC):c.9022C>T (p.Arg3008Ter)
|
rs1410984638
|
|
NM_201384.3(PLEC):c.949del (p.Leu317fs)
|
|
|
NM_201384.3(PLEC):c.9558_9559del (p.Glu3188fs)
|
rs1554681167
|
|
NM_201384.3(PLEC):c.9586C>T (p.Gln3196Ter)
|
|
|
NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp)
|
rs104894674
|
|
NM_203486.3(DLL3):c.1291_1307dup (p.Pro437fs)
|
rs777791545
|
|
NM_203486.3(DLL3):c.1339_1340insT (p.His447fs)
|
|
|
NM_203486.3(DLL3):c.1440del (p.Pro481fs)
|
rs786200903
|
|
NM_203486.3(DLL3):c.395del (p.Gly132fs)
|
rs761454301
|
|
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs)
|
rs786200899
|
|
NM_203486.3(DLL3):c.618del (p.Cys207fs)
|
rs786200902
|
|
NM_203486.3(DLL3):c.871-1G>A
|
rs2144761828
|
|
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
|
|
|
NM_206933.2(USH2A):c.(?_4628)_(9371_?)del
|
|
|
NM_206933.2(USH2A):c.4396+6857_6486-425del
|
|
|
NM_206933.2(USH2A):c.850_853delGAGA
|
|
|
NM_206933.2(USH2A):c.[2299del;4714C>T]
|
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
NM_206933.4(USH2A):c.10211del (p.Pro3404fs)
|
rs1571686349
|
|
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
|
|
|
NM_206933.4(USH2A):c.10388-1G>A
|
rs1553261478
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
NM_206933.4(USH2A):c.10585+1G>A
|
rs2102763351
|
|
NM_206933.4(USH2A):c.10593del (p.Ile3532fs)
|
|
|
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter)
|
rs878853413
|
|
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
|
rs1661659605
|
|
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)
|
rs111033418
|
|
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)
|
rs41314534
|
|
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)
|
rs755804518
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.11174del (p.Phe3725fs)
|
rs1571657875
|
|
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs)
|
rs1571657777
|
|
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter)
|
rs768062696
|
|
NM_206933.4(USH2A):c.11389+1G>A
|
rs368770647
|
|
NM_206933.4(USH2A):c.11390-1G>A
|
rs2102727580
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
NM_206933.4(USH2A):c.1143+1G>A
|
rs397517974
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter)
|
rs727505337
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.11639C>A (p.Ser3880Ter)
|
|
|
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys)
|
rs1386612395
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.11897_12003del (p.Gln3966fs)
|
rs1659881415
|
|
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs)
|
rs1571953449
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)
|
rs988693758
|
|
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
|
rs398124618
|
|
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter)
|
rs2037682180
|
|
NM_206933.4(USH2A):c.12313_12319del (p.Asp4105fs)
|
|
|
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
|
rs1657996197
|
|
NM_206933.4(USH2A):c.12599G>A (p.Trp4200Ter)
|
|
|
NM_206933.4(USH2A):c.12708T>A (p.Cys4236Ter)
|
|
|
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter)
|
rs397517981
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter)
|
rs1657965422
|
|
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)
|
rs397517983
|
|
NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn)
|
rs1064797130
|
|
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)
|
rs762159022
|
|
NM_206933.4(USH2A):c.13000C>T (p.Gln4334Ter)
|
rs367850936
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs)
|
rs1415157305
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter)
|
rs1657939866
|
|
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
|
rs775556188
|
|
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13374del (p.Glu4458fs)
|
rs727503715
|
|
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser)
|
rs1293619630
|
|
NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)
|
rs1657929865
|
|
NM_206933.4(USH2A):c.13494_13516dup (p.Ser4506fs)
|
|
|
NM_206933.4(USH2A):c.13599del (p.Met4535fs)
|
rs2102664886
|
|
NM_206933.4(USH2A):c.13655G>A (p.Trp4552Ter)
|
rs2102664776
|
|
NM_206933.4(USH2A):c.13700del (p.Leu4567fs)
|
rs1212608410
|
|
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)
|
rs367674026
|
|
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del)
|
rs1657799383
|
|
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter)
|
rs1571945476
|
|
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)
|
rs397517988
|
|
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser)
|
rs1064797129
|
|
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)
|
rs747063294
|
|
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)
|
rs1657036615
|
|
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)
|
rs727504867
|
|
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter)
|
rs1571929573
|
|
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)
|
rs1553250184
|
|
NM_206933.4(USH2A):c.14649del (p.Ile4883fs)
|
rs1656901821
|
|
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
|
rs754834155
|
|
NM_206933.4(USH2A):c.14835del (p.Val4946fs)
|
rs2102636076
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
|
rs1656419435
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
NM_206933.4(USH2A):c.15199del (p.Ile5067fs)
|
rs2102630527
|
|
NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter)
|
rs1426135314
|
|
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer)
|
rs1571701069
|
|
NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)
|
rs1195403033
|
|
NM_206933.4(USH2A):c.1636G>T (p.Gly546Ter)
|
|
|
NM_206933.4(USH2A):c.163C>T (p.Gln55Ter)
|
rs2102788946
|
|
NM_206933.4(USH2A):c.1645-2A>G
|
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1803del (p.Gly602fs)
|
rs1553327452
|
|
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)
|
rs2037013894
|
|
NM_206933.4(USH2A):c.1829A>C (p.His610Pro)
|
rs1571668556
|
|
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg)
|
rs768436928
|
|
NM_206933.4(USH2A):c.1850G>A (p.Cys617Tyr)
|
|
|
NM_206933.4(USH2A):c.1860C>A (p.Cys620Ter)
|
|
|
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter)
|
rs2036152207
|
|
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)
|
rs868562952
|
|
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter)
|
rs376674482
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs)
|
rs1553320542
|
|
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)
|
rs777629750
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer)
|
rs2036063892
|
|
NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)
|
rs587776538
|
|
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs)
|
rs2102545818
|
|
NM_206933.4(USH2A):c.2534del (p.Leu845fs)
|
rs1572088481
|
|
NM_206933.4(USH2A):c.263_340del (p.Cys88_Asn114delinsTyr)
|
|
|
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)
|
rs1438734382
|
|
NM_206933.4(USH2A):c.2809+1G>A
|
rs759433119
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
NM_206933.4(USH2A):c.2983C>T (p.Gln995Ter)
|
rs527236135
|
|
NM_206933.4(USH2A):c.3129dup (p.Val1044fs)
|
rs786205115
|
|
NM_206933.4(USH2A):c.3158-2A>G
|
rs878853404
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter)
|
rs1064797138
|
|
NM_206933.4(USH2A):c.3381del (p.Thr1128fs)
|
rs2034948574
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.3435del (p.Val1147fs)
|
rs397518012
|
|
NM_206933.4(USH2A):c.3558del (p.Cys1186fs)
|
rs397518014
|
|
NM_206933.4(USH2A):c.3837del (p.Leu1278_Tyr1279insTer)
|
|
|
NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter)
|
rs2034908088
|
|
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)
|
rs756623509
|
|
NM_206933.4(USH2A):c.3934del (p.Ala1312fs)
|
rs2102464166
|
|
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)
|
|
|
NM_206933.4(USH2A):c.4046del (p.Ser1349fs)
|
rs2034899784
|
|
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
|
rs2034852728
|
|
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)
|
rs397518015
|
|
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs)
|
rs2034850724
|
|
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter)
|
rs2034849647
|
|
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter)
|
rs1308702971
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.4361_4371del (p.Thr1454fs)
|
|
|
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg)
|
rs1553312493
|
|
NM_206933.4(USH2A):c.4396+2T>G
|
rs2034687381
|
|
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter)
|
rs797045113
|
|
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter)
|
rs869312179
|
|
NM_206933.4(USH2A):c.4603dup (p.His1535fs)
|
rs1572020896
|
|
NM_206933.4(USH2A):c.4667T>A (p.Leu1556Ter)
|
|
|
NM_206933.4(USH2A):c.4758+1G>A
|
|
|
NM_206933.4(USH2A):c.485+3A>T
|
rs1553258031
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter)
|
rs2032147505
|
|
NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs)
|
|
|
NM_206933.4(USH2A):c.5292dup (p.Leu1765fs)
|
rs2102559650
|
|
NM_206933.4(USH2A):c.532dup (p.Thr178fs)
|
rs1571801788
|
|
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter)
|
rs2102554503
|
|
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563
|
|
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val)
|
rs1571941511
|
|
NM_206933.4(USH2A):c.5548del (p.Tyr1850fs)
|
rs2102554196
|
|
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter)
|
rs762837293
|
|
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr)
|
rs2039616380
|
|
NM_206933.4(USH2A):c.5777-2A>C
|
rs1064797136
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs)
|
rs2030619513
|
|
NM_206933.4(USH2A):c.612dup (p.Arg205fs)
|
rs2039614529
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6292_6296del (p.Tyr2098fs)
|
rs2102524828
|
|
NM_206933.4(USH2A):c.6325+1G>A
|
rs1293202153
|
|
NM_206933.4(USH2A):c.632G>A (p.Trp211Ter)
|
rs727504893
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
NM_206933.4(USH2A):c.6638_6641del (p.Lys2213fs)
|
|
|
NM_206933.4(USH2A):c.6657+1G>A
|
rs1571876788
|
|
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr)
|
rs2038569132
|
|
NM_206933.4(USH2A):c.675_678del (p.Phe225fs)
|
rs2102708663
|
|
NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter)
|
rs2102458475
|
|
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs)
|
rs1667472317
|
|
NM_206933.4(USH2A):c.6905del (p.His2302fs)
|
rs2102458388
|
|
NM_206933.4(USH2A):c.7027del (p.Arg2343fs)
|
rs1667316878
|
|
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
|
|
|
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter)
|
rs376983577
|
|
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter)
|
rs397518029
|
|
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter)
|
rs2102469649
|
|
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)
|
rs1558151555
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_206933.4(USH2A):c.7795C>T (p.Gln2599Ter)
|
|
|
NM_206933.4(USH2A):c.7809C>A (p.Cys2603Ter)
|
|
|
NM_206933.4(USH2A):c.7871del (p.Pro2624fs)
|
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.7940del (p.Pro2647fs)
|
rs1665132445
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
|
|
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter)
|
rs1301139848
|
|
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)
|
rs1553273330
|
|
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs)
|
rs768367348
|
|
NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)
|
|
|
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)
|
rs397518036
|
|
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
|
rs397518036
|
|
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
NM_206933.4(USH2A):c.8341dup (p.Thr2781fs)
|
rs2102451863
|
|
NM_206933.4(USH2A):c.852_853del
|
rs1188025733
|
|
NM_206933.4(USH2A):c.8558+1G>T
|
rs770383273
|
|
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter)
|
rs2102450764
|
|
NM_206933.4(USH2A):c.8714dup (p.His2905fs)
|
rs2102440764
|
|
NM_206933.4(USH2A):c.8890dup (p.Trp2964fs)
|
rs786205116
|
|
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)
|
rs1269642027
|
|
NM_206933.4(USH2A):c.9187A>T (p.Lys3063Ter)
|
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9258+1G>T
|
rs748810737
|
|
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)
|
rs779572631
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
NM_206933.4(USH2A):c.9473del (p.Lys3158fs)
|
rs2102796411
|
|
NM_206933.4(USH2A):c.9538del (p.Cys3180fs)
|
rs36108227
|
|
NM_206933.4(USH2A):c.956G>T (p.Cys319Phe)
|
|
|
NM_206933.4(USH2A):c.9602_9611del (p.Lys3201fs)
|
rs2102793202
|
|
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter)
|
rs1662772955
|
|
NM_206933.4(USH2A):c.9685del (p.Glu3229fs)
|
rs878853233
|
|
NM_206933.4(USH2A):c.9699del (p.His3234fs)
|
|
|
NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter)
|
rs2102778615
|
|
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
|
rs1571703801
|
|
NM_206933.4(USH2A):c.9945dup (p.Asn3316fs)
|
|
|
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs)
|
rs1571703770
|
|
NM_207346.3(TSEN54):c.953del (p.Pro318fs)
|
|
|
NM_207361.6(FREM2):c.1266del (p.Asp423fs)
|
rs1869623039
|
|
NM_207361.6(FREM2):c.15del (p.Thr6fs)
|
rs1869502750
|
|
NM_207361.6(FREM2):c.1930C>T (p.Gln644Ter)
|
rs1869683236
|
|
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter)
|
rs2138066721
|
|
NM_207361.6(FREM2):c.2689C>T (p.Gln897Ter)
|
|
|
NM_207361.6(FREM2):c.3103_3104del (p.Leu1036fs)
|
rs1555261304
|
|
NM_207361.6(FREM2):c.3890del (p.Ile1297fs)
|
rs776269575
|
|
NM_207361.6(FREM2):c.399del (p.Gly134fs)
|
rs1869545423
|
|
NM_207361.6(FREM2):c.6186_6188delinsAATTACAGAA (p.Gly2063fs)
|
rs1877244252
|
|
NM_207361.6(FREM2):c.750_751dup (p.Thr251fs)
|
rs1869579851
|
|
NM_207361.6(FREM2):c.7519+1G>A
|
rs1566169711
|
|
NM_207361.6(FREM2):c.8451dup (p.Cys2818fs)
|
|
|
NM_213599.3(ANO5):c.1045C>T (p.Gln349Ter)
|
rs2133704072
|
|
NM_213599.3(ANO5):c.1088G>A (p.Trp363Ter)
|
rs1554929301
|
|
NM_213599.3(ANO5):c.108_109del (p.Glu36fs)
|
rs886044020
|
|
NM_213599.3(ANO5):c.1158del (p.Phe386fs)
|
rs1564936489
|
|
NM_213599.3(ANO5):c.1179G>A (p.Trp393Ter)
|
|
|
NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter)
|
rs1554930267
|
|
NM_213599.3(ANO5):c.1222del (p.Leu408fs)
|
rs1853968715
|
|
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)
|
rs754889480
|
|
NM_213599.3(ANO5):c.1409T>G (p.Met470Arg)
|
rs1403946332
|
|
NM_213599.3(ANO5):c.1516del (p.Ser506fs)
|
rs1302414683
|
|
NM_213599.3(ANO5):c.1520del (p.Phe507fs)
|
rs794727158
|
|
NM_213599.3(ANO5):c.1531C>T (p.Gln511Ter)
|
rs1486335553
|
|
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile)
|
rs281865467
|
|
NM_213599.3(ANO5):c.1544C>A (p.Ser515Ter)
|
rs1854126127
|
|
NM_213599.3(ANO5):c.1627dup (p.Met543fs)
|
rs281865480
|
|
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter)
|
rs747719953
|
|
NM_213599.3(ANO5):c.1656T>G (p.Tyr552Ter)
|
rs2133747497
|
|
NM_213599.3(ANO5):c.1680del (p.Met560fs)
|
|
|
NM_213599.3(ANO5):c.1690C>T (p.Gln564Ter)
|
rs2133747657
|
|
NM_213599.3(ANO5):c.1716C>A (p.Cys572Ter)
|
rs368389717
|
|
NM_213599.3(ANO5):c.1737dup (p.Gly580fs)
|
rs759064817
|
|
NM_213599.3(ANO5):c.1755T>A (p.Tyr585Ter)
|
rs1364860348
|
|
NM_213599.3(ANO5):c.1784del (p.Glu595fs)
|
|
|
NM_213599.3(ANO5):c.1794_1798dup (p.Glu600fs)
|
|
|
NM_213599.3(ANO5):c.1873G>T (p.Gly625Ter)
|
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
NM_213599.3(ANO5):c.1924C>T (p.Arg642Ter)
|
rs146341538
|
|
NM_213599.3(ANO5):c.1955A>G (p.Tyr652Cys)
|
rs563666662
|
|
NM_213599.3(ANO5):c.1964G>A (p.Trp655Ter)
|
|
|
NM_213599.3(ANO5):c.1965G>A (p.Trp655Ter)
|
|
|
NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys)
|
rs760137559
|
|
NM_213599.3(ANO5):c.2004del (p.Leu669fs)
|
rs886043172
|
|
NM_213599.3(ANO5):c.2172_2178del (p.Ala724_His725insTer)
|
rs794727231
|
|
NM_213599.3(ANO5):c.2193_2197del (p.Gln731fs)
|
rs746738154
|
|
NM_213599.3(ANO5):c.2236-2_2238dup
|
|
|
NM_213599.3(ANO5):c.2273_2280dup (p.Tyr761delinsValTer)
|
|
|
NM_213599.3(ANO5):c.22G>T (p.Glu8Ter)
|
rs1191668273
|
|
NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs)
|
rs137854528
|
|
NM_213599.3(ANO5):c.246del (p.Phe82fs)
|
|
|
NM_213599.3(ANO5):c.258C>A (p.Tyr86Ter)
|
rs747146523
|
|
NM_213599.3(ANO5):c.284_285del (p.Glu95fs)
|
|
|
NM_213599.3(ANO5):c.294+5G>A
|
rs2133589044
|
|
NM_213599.3(ANO5):c.299del (p.Arg100fs)
|
rs1064793358
|
|
NM_213599.3(ANO5):c.304_308del (p.Lys102fs)
|
rs776859202
|
|
NM_213599.3(ANO5):c.340del (p.Glu114fs)
|
|
|
NM_213599.3(ANO5):c.352del (p.Glu118fs)
|
rs878854367
|
|
NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)
|
|
|
NM_213599.3(ANO5):c.412G>T (p.Glu138Ter)
|
rs1554924356
|
|
NM_213599.3(ANO5):c.431_432del (p.Ala144fs)
|
|
|
NM_213599.3(ANO5):c.738C>G (p.Tyr246Ter)
|
rs570341380
|
|
NM_213599.3(ANO5):c.766C>T (p.Gln256Ter)
|
rs794727981
|
|
NM_213599.3(ANO5):c.773_774delinsAA (p.Trp258Ter)
|
rs2133663216
|
|
NM_213599.3(ANO5):c.774G>A (p.Trp258Ter)
|
|
|
NM_213599.3(ANO5):c.775A>T (p.Lys259Ter)
|
rs1590266227
|
|
NM_213599.3(ANO5):c.813C>G (p.Tyr271Ter)
|
rs1380525804
|
|
NM_213599.3(ANO5):c.823C>T (p.Gln275Ter)
|
rs766994696
|
|
NM_213599.3(ANO5):c.835C>T (p.Arg279Ter)
|
rs1564930625
|
|
NM_213599.3(ANO5):c.873_876del (p.Ile292fs)
|
rs1458677325
|
|
NM_213599.3(ANO5):c.898dup (p.Ile300fs)
|
rs1383346134
|
|
NM_213599.3(ANO5):c.989T>A (p.Leu330Ter)
|
rs373814281
|
|
NM_213599.3(ANO5):c.989dup (p.Leu330fs)
|
rs398124626
|
|
NPC1, IVS16, G-A, -82
|
|
|
NP_000154.1:p.Ala442Serfs*27
|
|
|
NP_000251.3(MYO7A):p.Tyr1302fsTer97
|
|
|
NP_000483.3(CFTR):p.Tyr1092Ter
|
|
|
NP_000483.3:p.Ser549Arg
|
|
|
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
|
|
|
NR_003051.3(RMRP):n.-13_1dup14
|
rs1554651373
|
|
NR_003051.3(RMRP):n.-14_3dup
|
rs878853178
|
|
NR_003051.3(RMRP):n.-19_-3dup
|
rs727502778
|
|
NR_003051.3(RMRP):n.-20_-19insTCTGTGAAGCTGGGGAC
|
rs1554651469
|
|
NR_003051.3(RMRP):n.-22_-3dup
|
rs1554651411
|
|
NR_003051.3(RMRP):n.-24_-10dup
|
rs727502776
|
|
NR_003051.3(RMRP):n.-24_-18dup
|
rs1554651543
|
|
NR_003051.3(RMRP):n.-24_-4dup
|
rs1563907883
|
|
NR_003051.3(RMRP):n.-5_-4insAACTACTCTGTGAAGCTGA
|
|
|
NR_003051.3(RMRP):n.-6_-5insCCTGAG
|
rs1554651446
|
|
NR_003051.3(RMRP):n.-7_1dup
|
rs752934195
|
|
NR_003051.3(RMRP):n.147G>A
|
rs753874439
|
|
NR_003051.4(RMRP):n.156G>T
|
rs752709977
|
|
NR_003051.4(RMRP):n.182G>A
|
rs1004469515
|
|
NR_003051.4(RMRP):n.184G>A
|
rs1554651153
|
|
NR_003051.4(RMRP):n.197C>T
|
rs948931144
|
|
NR_003051.4(RMRP):n.220A>G
|
rs936059863
|
|
NR_003051.4(RMRP):n.94dup
|
rs2131808768
|
|
NR_003051.4(RMRP):n.97_98dup
|
rs1340624774
|
|
NR_023317.1(RNU7-1):n.28C>T
|
rs180837208
|
|
NR_023317.1:n.34_50delins25
|
|
|
NR_029422.2(RNU12):n.84C>T
|
|
|
NR_029512.1(MIR96):n.13G>A
|
rs587776522
|
|
NR_029512.1(MIR96):n.14C>A
|
rs587776523
|
|
PRG4, 2-BP DEL, NT3023
|
|
|
PRG4, IVS6, 41-BP INS
|
|
|
RMRP, 1-BP DEL/21-BP INS, PROMOTER
|
|
|
SGCA, TYR134TER
|
|
|
Single allele
|
|
|
TTN:c.106668delA (p.Lys35556Argfs)
|
rs587776772
|
|
USP18, 3-PRIME DEL
|
|
|
c.10_11 ins10bp
|
|
|
c.1180-1181delCT
|
|
|
c.1263+81_1596+?del
|
|
|
c.1323C>T
|
|
|
c.1330-1333delTTCC
|
|
|
c.2475-2A-G
|
|
|
c.599C>T
|
|
|
c.667_684del(664_681del)
|
|
|
del(GJB6-D13S1830)
|
|
|
m.12258C>A
|
rs118203888
|
|
nsv930453
|
|
|