NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)
|
rs2229813
|
0.46716
|
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)
|
rs1800130
|
0.07467
|
NM_000492.4(CFTR):c.-8G>C
|
rs1800501
|
0.04368
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly)
|
rs77360687
|
0.00842
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_015046.7(SETX):c.5275-43T>C
|
rs144258500
|
0.00547
|
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)
|
rs35744605
|
0.00367
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)
|
rs142549310
|
0.00298
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala)
|
rs141663679
|
0.00207
|
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln)
|
rs140621959
|
0.00188
|
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp)
|
rs147458358
|
0.00177
|
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)
|
rs139165033
|
0.00171
|
NR_003051.3(RMRP):n.71A>G
|
rs199476103
|
0.00156
|
NM_000492.4(CFTR):c.*684A>G
|
rs146818281
|
0.00153
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
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_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_002160.4(TNC):c.2374G>T (p.Gly792Cys)
|
rs150868783
|
0.00131
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
NM_001163809.2(WDR81):c.2254C>T (p.Pro752Ser)
|
rs200781463
|
0.00113
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
NM_003052.5(SLC34A1):c.1416+5G>A
|
rs202081023
|
0.00036
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)
|
rs201759207
|
0.00029
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp)
|
rs146286188
|
0.00028
|
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser)
|
rs182216426
|
0.00026
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
|
rs61750168
|
0.00019
|
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)
|
rs142773283
|
0.00019
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
NM_000492.4(CFTR):c.3963+69A>G
|
rs540577876
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_003937.3(KYNU):c.256dup (p.Tyr86fs)
|
rs550079487
|
0.00017
|
NM_016239.4(MYO15A):c.2116G>A (p.Ala706Thr)
|
rs932191004
|
0.00017
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
NM_018075.5(ANO10):c.837A>T (p.Arg279Ser)
|
rs374795191
|
0.00014
|
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)
|
rs200759521
|
0.00012
|
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_001130987.2(DYSF):c.308A>G (p.Asn103Ser)
|
rs201834175
|
0.00012
|
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)
|
rs139116571
|
0.00012
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_153717.3(EVC):c.899A>C (p.Glu300Ala)
|
rs149529742
|
0.00009
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)
|
rs749747871
|
0.00006
|
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)
|
rs200416912
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)
|
rs1800123
|
0.00006
|
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)
|
rs397508636
|
0.00006
|
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser)
|
rs144021458
|
0.00006
|
NM_017872.5(THG1L):c.137C>A (p.Thr46Asn)
|
rs746295635
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs)
|
rs72664233
|
0.00005
|
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys)
|
rs387906886
|
0.00005
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile)
|
rs397508397
|
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.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
NM_001139.3(ALOX12B):c.1272dup (p.Lys425fs)
|
rs763328506
|
0.00004
|
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys)
|
rs200581623
|
0.00004
|
NM_006019.4(TCIRG1):c.2236+1G>A
|
rs1475338876
|
0.00004
|
NM_021628.3(ALOXE3):c.680+1G>A
|
rs764781178
|
0.00004
|
NM_022168.4(IFIH1):c.1157G>A (p.Arg386His)
|
rs138611889
|
0.00004
|
NM_022168.4(IFIH1):c.298A>G (p.Thr100Ala)
|
rs375449284
|
0.00004
|
NM_022464.5(SIL1):c.902C>T (p.Pro301Leu)
|
rs1478296366
|
0.00004
|
NM_024989.4(PGAP1):c.2042del (p.Leu681fs)
|
rs756609752
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
0.00004
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00004
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
NM_000260.4(MYO7A):c.2684G>A (p.Arg895His)
|
rs1007895502
|
0.00003
|
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)
|
rs121908805
|
0.00003
|
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln)
|
rs72653794
|
0.00003
|
NM_001510.4(GRID2):c.899G>A (p.Arg300His)
|
rs201635818
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)
|
rs761399728
|
0.00003
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
NM_173551.5(ANKS6):c.1973-3C>G
|
rs397514257
|
0.00003
|
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter)
|
rs769256027
|
0.00003
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000492.4(CFTR):c.579+3A>G
|
rs397508761
|
0.00002
|
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe)
|
rs193922533
|
0.00002
|
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)
|
rs753508874
|
0.00002
|
NM_000553.6(WRN):c.1466C>T (p.Pro489Leu)
|
rs750052448
|
0.00002
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001353108.3(CEP63):c.1068-1G>A
|
rs752207334
|
0.00002
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
|
rs1057516964
|
0.00001
|
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)
|
rs773001194
|
0.00001
|
NM_000092.5(COL4A4):c.4130G>A (p.Arg1377Gln)
|
rs559719653
|
0.00001
|
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser)
|
rs2060673883
|
0.00001
|
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)
|
rs750889782
|
0.00001
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00001
|
NM_000329.3(RPE65):c.938A>G (p.His313Arg)
|
rs1375943362
|
0.00001
|
NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs)
|
rs397508138
|
0.00001
|
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)
|
rs397508154
|
0.00001
|
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)
|
rs79282516
|
0.00001
|
NM_000492.4(CFTR):c.1478A>G (p.Gln493Arg)
|
rs397508214
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_000492.4(CFTR):c.1584+1G>A
|
rs397508230
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)
|
rs397508296
|
0.00001
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly)
|
rs377447726
|
0.00001
|
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)
|
rs397508419
|
0.00001
|
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
|
rs369521395
|
0.00001
|
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)
|
rs121909008
|
0.00001
|
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
|
rs386134230
|
0.00001
|
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)
|
rs397508461
|
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.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)
|
rs144781064
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)
|
rs121909040
|
0.00001
|
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)
|
rs397508607
|
0.00001
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg)
|
rs397508616
|
0.00001
|
NM_000492.4(CFTR):c.3893G>T (p.Gly1298Val)
|
rs193922522
|
0.00001
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)
|
rs397508692
|
0.00001
|
NM_000492.4(CFTR):c.4242+1G>T
|
rs372227120
|
0.00001
|
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)
|
rs149197463
|
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.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)
|
rs1847910654
|
0.00001
|
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)
|
rs200763423
|
0.00001
|
NM_000553.6(WRN):c.673C>T (p.Arg225Ter)
|
rs370324188
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)
|
rs72551314
|
0.00001
|
NM_001040167.2(LFNG):c.527C>T (p.Ala176Val)
|
rs376234607
|
0.00001
|
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu)
|
rs760772706
|
0.00001
|
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
|
rs751734985
|
0.00001
|
NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln)
|
rs1203128651
|
0.00001
|
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)
|
rs762607878
|
0.00001
|
NM_001171.6(ABCC6):c.24C>A (p.Cys8Ter)
|
rs1412967184
|
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_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr)
|
rs201018751
|
0.00001
|
NM_001271838.2(RSRC1):c.11G>A (p.Arg4Gln)
|
rs749608883
|
0.00001
|
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)
|
rs776563011
|
0.00001
|
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr)
|
rs780190318
|
0.00001
|
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
NM_006946.4(SPTBN2):c.5611G>A (p.Ala1871Thr)
|
rs752677090
|
0.00001
|
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp)
|
rs199921604
|
0.00001
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser)
|
rs1429339677
|
0.00001
|
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter)
|
rs749969789
|
0.00001
|
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter)
|
rs1264582344
|
0.00001
|
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His)
|
rs1219133025
|
0.00001
|
NM_144628.4(TBC1D20):c.932C>A (p.Ala311Asp)
|
rs761833391
|
0.00001
|
NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter)
|
rs370729939
|
0.00001
|
GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1
|
|
|
Multiple alleles
|
|
|
NM_000057.4(BLM):c.2945G>A (p.Arg982Lys)
|
rs1281589498
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000092.5(COL4A4):c.994G>A (p.Gly332Arg)
|
|
|
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg)
|
rs368728467
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
NM_000260.4(MYO7A):c.2003G>T (p.Arg668Leu)
|
rs368575149
|
|
NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs)
|
|
|
NM_000260.4(MYO7A):c.5043+3A>G
|
|
|
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs)
|
rs730880367
|
|
NM_000271.5(NPC1):c.1997G>A (p.Ser666Asn)
|
|
|
NM_000271.5(NPC1):c.3591+2T>C
|
rs1555631888
|
|
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
|
|
|
NM_000277.3(PAH):c.776C>G (p.Ala259Gly)
|
|
|
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)
|
rs62642913
|
|
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)
|
rs281865289
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs)
|
rs1554391033
|
|
NM_000492.3(CFTR):c.3468+2dup
|
rs1554392800
|
|
NM_000492.3(CFTR):c.54-5940_273+10250del
|
|
|
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.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)
|
rs397508146
|
|
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1068G>A (p.Trp356Ter)
|
rs397508150
|
|
NM_000492.4(CFTR):c.1080del (p.Trp361fs)
|
|
|
NM_000492.4(CFTR):c.1116+2T>A
|
|
|
NM_000492.4(CFTR):c.1117-1G>A
|
rs797045160
|
|
NM_000492.4(CFTR):c.1117-5A>G
|
rs397508161
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1159_1160del (p.Leu387fs)
|
|
|
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter)
|
rs397508168
|
|
NM_000492.4(CFTR):c.1209G>T (p.Glu403Asp)
|
|
|
NM_000492.4(CFTR):c.1210-1G>C
|
rs397508178
|
|
NM_000492.4(CFTR):c.1210-2A>C
|
rs397508179
|
|
NM_000492.4(CFTR):c.1221del (p.Glu407fs)
|
|
|
NM_000492.4(CFTR):c.1234del (p.Ala412fs)
|
rs397508181
|
|
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.1244del (p.Asn415fs)
|
|
|
NM_000492.4(CFTR):c.1282C>G (p.Leu428Val)
|
|
|
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs)
|
rs1562895066
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1360_1381delinsATAGAAA
|
rs1554382656
|
|
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe)
|
rs397508195
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1368del (p.Ala457fs)
|
|
|
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)
|
rs1554382664
|
|
NM_000492.4(CFTR):c.1388G>A (p.Gly463Asp)
|
rs1163866901
|
|
NM_000492.4(CFTR):c.1392+1G>A
|
rs397508197
|
|
NM_000492.4(CFTR):c.1394C>T (p.Thr465Ile)
|
|
|
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)
|
rs756206533
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
|
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.1517T>A (p.Ile506Asn)
|
|
|
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.1540G>T (p.Glu514Ter)
|
rs1799425190
|
|
NM_000492.4(CFTR):c.1550A>C (p.Tyr517Ser)
|
|
|
NM_000492.4(CFTR):c.156del (p.Lys52fs)
|
rs1346705436
|
|
NM_000492.4(CFTR):c.1584+2T>C
|
rs397508231
|
|
NM_000492.4(CFTR):c.1585-2A>G
|
rs397508233
|
|
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)
|
|
|
NM_000492.4(CFTR):c.1592_1593delinsG (p.Ile530_Ser531insTer)
|
|
|
NM_000492.4(CFTR):c.164+1G>T
|
rs397508243
|
|
NM_000492.4(CFTR):c.1642_1643del (p.Leu548fs)
|
rs397508246
|
|
NM_000492.4(CFTR):c.165-2A>G
|
rs397508250
|
|
NM_000492.4(CFTR):c.1679+1G>A
|
rs397508263
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
NM_000492.4(CFTR):c.1688A>G (p.Tyr563Cys)
|
|
|
NM_000492.4(CFTR):c.1703del (p.Leu568fs)
|
rs397508274
|
|
NM_000492.4(CFTR):c.1709T>C (p.Leu570Ser)
|
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)
|
rs397508286
|
|
NM_000492.4(CFTR):c.1735G>C (p.Asp579His)
|
|
|
NM_000492.4(CFTR):c.1738del (p.Val580fs)
|
rs397508289
|
|
NM_000492.4(CFTR):c.1742dup (p.Leu581fs)
|
rs397508290
|
|
NM_000492.4(CFTR):c.1756A>G (p.Ile586Val)
|
|
|
NM_000492.4(CFTR):c.1762G>T (p.Glu588Ter)
|
|
|
NM_000492.4(CFTR):c.1767-2A>G
|
|
|
NM_000492.4(CFTR):c.1807G>T (p.Val603Phe)
|
rs143036685
|
|
NM_000492.4(CFTR):c.1849_1851del (p.Leu617del)
|
|
|
NM_000492.4(CFTR):c.1856T>C (p.Leu619Ser)
|
rs397508313
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1911del (p.Gln637fs)
|
rs1554389296
|
|
NM_000492.4(CFTR):c.1949del (p.Phe650fs)
|
|
|
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter)
|
rs1792036190
|
|
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter)
|
rs1562907896
|
|
NM_000492.4(CFTR):c.1981del (p.Ile661fs)
|
rs397508324
|
|
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)
|
rs397508327
|
|
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.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2053dup (p.Gln685fs)
|
rs797045162
|
|
NM_000492.4(CFTR):c.206T>G (p.Leu69Arg)
|
|
|
NM_000492.4(CFTR):c.221G>C (p.Arg74Pro)
|
|
|
NM_000492.4(CFTR):c.2335del (p.Gln779fs)
|
|
|
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.2382_2383del (p.Ser795fs)
|
|
|
NM_000492.4(CFTR):c.2393dup (p.Gln799fs)
|
rs397508372
|
|
NM_000492.4(CFTR):c.241T>C (p.Phe81Leu)
|
|
|
NM_000492.4(CFTR):c.2420T>C (p.Ile807Thr)
|
rs1554389471
|
|
NM_000492.4(CFTR):c.2464G>A (p.Glu822Lys)
|
rs397508378
|
|
NM_000492.4(CFTR):c.2490+827_2620-3551del
|
|
|
NM_000492.4(CFTR):c.253_255del (p.Gly85del)
|
|
|
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.2644_2645dup (p.Trp882fs)
|
rs1554390864
|
|
NM_000492.4(CFTR):c.2705del (p.Ser902fs)
|
|
|
NM_000492.4(CFTR):c.2739T>G (p.Tyr913Ter)
|
|
|
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)
|
rs121908751
|
|
NM_000492.4(CFTR):c.2855T>G (p.Met952Arg)
|
|
|
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs)
|
rs397508445
|
|
NM_000492.4(CFTR):c.2859_2893delinsTCAAG (p.Leu953_Asn965delinsPheGlnAsp)
|
|
|
NM_000492.4(CFTR):c.2875del (p.Ala959fs)
|
rs397508447
|
|
NM_000492.4(CFTR):c.288_296del (p.Val97_Pro99del)
|
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.2909-1G>C
|
rs397508456
|
|
NM_000492.4(CFTR):c.2909-2A>T
|
|
|
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro)
|
rs137975784
|
|
NM_000492.4(CFTR):c.2989-2A>G
|
rs193922515
|
|
NM_000492.4(CFTR):c.2991_2993del
|
|
|
NM_000492.4(CFTR):c.3000_3014del (p.Val1001_Ile1005del)
|
|
|
NM_000492.4(CFTR):c.3008G>A (p.Gly1003Glu)
|
rs55803548
|
|
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del)
|
rs1562914072
|
|
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)
|
rs397508479
|
|
NM_000492.4(CFTR):c.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.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
NM_000492.4(CFTR):c.3085T>A (p.Leu1029Met)
|
|
|
NM_000492.4(CFTR):c.3101T>C (p.Leu1034Pro)
|
|
|
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)
|
rs397508496
|
|
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr)
|
rs1584821736
|
|
NM_000492.4(CFTR):c.3140-16T>A
|
|
|
NM_000492.4(CFTR):c.3180del (p.Gly1061fs)
|
|
|
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.320C>G (p.Ala107Gly)
|
|
|
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs)
|
rs397508518
|
|
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.3256A>G (p.Thr1086Ala)
|
rs373043500
|
|
NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro)
|
rs771259493
|
|
NM_000492.4(CFTR):c.326_327del (p.Ser108_Tyr109insTer)
|
rs121908798
|
|
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)
|
rs397508528
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3293G>T (p.Trp1098Leu)
|
|
|
NM_000492.4(CFTR):c.3294del (p.Trp1098fs)
|
rs397508534
|
|
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter)
|
rs397508536
|
|
NM_000492.4(CFTR):c.3322_3323del (p.Val1108fs)
|
|
|
NM_000492.4(CFTR):c.3322del (p.Val1108fs)
|
rs2116085331
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3389_3402del (p.Gly1130fs)
|
|
|
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)
|
rs397508555
|
|
NM_000492.4(CFTR):c.3411_3414del (p.Met1137fs)
|
|
|
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter)
|
rs397508560
|
|
NM_000492.4(CFTR):c.3469-1G>C
|
|
|
NM_000492.4(CFTR):c.3469-1G>T
|
|
|
NM_000492.4(CFTR):c.3469-2A>C
|
|
|
NM_000492.4(CFTR):c.3469-2A>G
|
rs397508570
|
|
NM_000492.4(CFTR):c.3469-52_3717+5032dup
|
|
|
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)
|
rs397508573
|
|
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.3525_3537del (p.Thr1176fs)
|
|
|
NM_000492.4(CFTR):c.3530del (p.Lys1177fs)
|
rs397508579
|
|
NM_000492.4(CFTR):c.3556C>T (p.Gln1186Ter)
|
rs397508582
|
|
NM_000492.4(CFTR):c.3602del (p.Asp1201fs)
|
|
|
NM_000492.4(CFTR):c.3717+1G>A
|
rs750558115
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000492.4(CFTR):c.3718-24_3873+601del
|
rs1554395323
|
|
NM_000492.4(CFTR):c.3718-3T>G
|
rs397508596
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3725T>A (p.Leu1242His)
|
|
|
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs)
|
rs121908789
|
|
NM_000492.4(CFTR):c.3776G>C (p.Arg1259Thr)
|
rs1470171438
|
|
NM_000492.4(CFTR):c.3793G>A (p.Gly1265Arg)
|
|
|
NM_000492.4(CFTR):c.3809A>T (p.Asp1270Val)
|
|
|
NM_000492.4(CFTR):c.3838C>T (p.Gln1280Ter)
|
rs1584837173
|
|
NM_000492.4(CFTR):c.3873+2T>C
|
rs146795445
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs)
|
rs387906373
|
|
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.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.3908del (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.3956C>A (p.Ala1319Glu)
|
rs397508649
|
|
NM_000492.4(CFTR):c.3964-7A>G
|
|
|
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
NM_000492.4(CFTR):c.3976del (p.Ser1326fs)
|
rs397508654
|
|
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)
|
rs1057516457
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.4007_4010del (p.Asp1336fs)
|
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4111_4113dup (p.Glu1371_Pro1372insGlu)
|
|
|
NM_000492.4(CFTR):c.412_413insACT (p.Leu137_Leu138insHis)
|
rs397508679
|
|
NM_000492.4(CFTR):c.4137-23G>A
|
|
|
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.4163T>C (p.Leu1388Pro)
|
rs397508688
|
|
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer)
|
rs397508693
|
|
NM_000492.4(CFTR):c.4220T>C (p.Met1407Thr)
|
|
|
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter)
|
rs397508701
|
|
NM_000492.4(CFTR):c.4241T>C (p.Leu1414Ser)
|
rs397508703
|
|
NM_000492.4(CFTR):c.4242+1G>A
|
rs372227120
|
|
NM_000492.4(CFTR):c.42del (p.Lys14fs)
|
rs397508710
|
|
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)
|
rs397508709
|
|
NM_000492.4(CFTR):c.4345_*487delinsTTG (p.Phe1450fs)
|
|
|
NM_000492.4(CFTR):c.43del (p.Leu15fs)
|
rs397508715
|
|
NM_000492.4(CFTR):c.440A>C (p.His147Pro)
|
|
|
NM_000492.4(CFTR):c.4443G>C (p.Ter1481Tyr)
|
|
|
NM_000492.4(CFTR):c.449T>A (p.Met150Lys)
|
rs1562889397
|
|
NM_000492.4(CFTR):c.449T>G (p.Met150Arg)
|
rs1562889397
|
|
NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
|
NM_000492.4(CFTR):c.488A>T (p.Lys163Met)
|
rs1562889435
|
|
NM_000492.4(CFTR):c.489G>A (p.Lys163=)
|
rs397508733
|
|
NM_000492.4(CFTR):c.498del (p.Lys166fs)
|
|
|
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
|
|
|
NM_000492.4(CFTR):c.50del (p.Phe17fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.50dup (p.Ser18fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.53+1005T>G
|
|
|
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)
|
rs397508748
|
|
NM_000492.4(CFTR):c.535C>T (p.Gln179Ter)
|
|
|
NM_000492.4(CFTR):c.54-1161_164+1603del
|
|
|
NM_000492.4(CFTR):c.558del (p.Asn186fs)
|
|
|
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys)
|
rs397508755
|
|
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)
|
rs376008630
|
|
NM_000492.4(CFTR):c.5A>C (p.Gln2Pro)
|
rs1797976959
|
|
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
|
rs397508778
|
|
NM_000492.4(CFTR):c.708del (p.Gln237fs)
|
rs1299250440
|
|
NM_000492.4(CFTR):c.711G>C (p.Gln237His)
|
rs397508785
|
|
NM_000492.4(CFTR):c.71T>A (p.Leu24Ter)
|
|
|
NM_000492.4(CFTR):c.722G>A (p.Gly241Glu)
|
|
|
NM_000492.4(CFTR):c.743+1G>A
|
rs397508791
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
|
|
NM_000492.4(CFTR):c.748C>T (p.Gln250Ter)
|
|
|
NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)
|
|
|
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)
|
rs397508796
|
|
NM_000492.4(CFTR):c.869+5G>C
|
|
|
NM_000492.4(CFTR):c.874_875del (p.Glu292fs)
|
rs1799022949
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|
NM_000492.4(CFTR):c.972del (p.Tyr325fs)
|
|
|
NM_000492.4(CFTR):c.97G>T (p.Glu33Ter)
|
|
|
NM_000492.4:c.(1209+1_1210-1)_(1392+1_1393-1)del
|
|
|
NM_000492.4:c.(1392+1_1393-1)_(1584+1_1585-1)del
|
|
|
NM_000492.4:c.(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)_(1209+1_1210-1)del
|
|
|
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)dup
|
|
|
NM_000492.4:c.(273+1_274-1)_(1392+1_1393-1)dup
|
|
|
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)_(3139+1_3140-1)dup
|
|
|
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.(3428+1_3469-1)_(3717+1_3718-1)dup
|
|
|
NM_000492.4:c.(3468+1_3469-1)_(3717+1_3718-1)del
|
|
|
NM_000492.4:c.(3468+1_3469-1)_(3873+1_3874-1)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.(53+1_54-1)_(164+1_165-1)delins186
|
|
|
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_000553.6(WRN):c.3030_3033del (p.Thr1011fs)
|
rs748860208
|
|
NM_000784.4(CYP27A1):c.1297dup (p.Arg433fs)
|
|
|
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter)
|
rs771819245
|
|
NM_001013838.3(CARMIL2):c.958+1G>C
|
rs1567628294
|
|
NM_001039958.2(MESP2):c.49del (p.Ile17fs)
|
|
|
NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del)
|
rs2038007278
|
|
NM_001048166.1(STIL):c.66del (p.Pro23fs)
|
rs1645910850
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001083961.2(WDR62):c.1487G>A (p.Arg496Gln)
|
|
|
NM_001083961.2(WDR62):c.1576G>T (p.Glu526Ter)
|
rs147875659
|
|
NM_001083961.2(WDR62):c.1669C>T (p.Arg557Trp)
|
|
|
NM_001083961.2(WDR62):c.2035-2A>G
|
|
|
NM_001083961.2(WDR62):c.2086del (p.Ser696fs)
|
rs863223322
|
|
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)
|
|
|
NM_001083961.2(WDR62):c.4312-1G>C
|
rs1973640822
|
|
NM_001098484.3(SLC4A4):c.1170G>C (p.Arg390Ser)
|
|
|
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs)
|
rs1553913019
|
|
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
|
|
|
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)
|
rs753874898
|
|
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs)
|
rs1203487591
|
|
NM_001136035.4(TRMT1):c.312del (p.Lys105fs)
|
rs2019321826
|
|
NM_001139.3(ALOX12B):c.1144A>G (p.Lys382Glu)
|
rs1567981916
|
|
NM_001139.3(ALOX12B):c.1799G>A (p.Arg600Gln)
|
rs1333287390
|
|
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro)
|
rs2132705299
|
|
NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu)
|
rs374149596
|
|
NM_001171.6(ABCC6):c.4209-2A>C
|
rs1555506740
|
|
NM_001267550.2(TTN):c.38424del (p.Lys12809fs)
|
rs1553775991
|
|
NM_001351132.2(PEX5):c.147+77_147+121del
|
|
|
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs)
|
rs780252175
|
|
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)
|
rs780843883
|
|
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs)
|
rs1553403656
|
|
NM_001378454.1(ALMS1):c.3757T>C (p.Leu1253=)
|
rs1671904168
|
|
NM_001378454.1(ALMS1):c.4149dup (p.His1384fs)
|
rs1671915447
|
|
NM_001378454.1(ALMS1):c.5280del (p.His1761fs)
|
rs2103785835
|
|
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His)
|
rs775362535
|
|
NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala)
|
|
|
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)
|
|
|
NM_001510.4:c.1246-278_2193+35240del
|
|
|
NM_001510.4:c.790-271_1245+268del
|
|
|
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu)
|
rs606231458
|
|
NM_001614.5(ACTG1):c.197C>T (p.Thr66Ile)
|
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_003052.5(SLC34A1):c.644+5G>A
|
|
|
NM_003104.6(SORD):c.50C>T (p.Pro17Leu)
|
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003937.3(KYNU):c.865T>C (p.Phe289Leu)
|
|
|
NM_004004.6(GJB2):c.200A>G (p.His67Arg)
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004086.3(COCH):c.366_371del (p.Val123_Thr124del)
|
|
|
NM_004100.5(EYA4):c.472C>T (p.Gln158Ter)
|
rs1794473050
|
|
NM_005645.4(TAF13):c.119T>A (p.Met40Lys)
|
rs1060505029
|
|
NM_005645.4(TAF13):c.92T>A (p.Leu31His)
|
rs1060505030
|
|
NM_005807.6(PRG4):c.3735_3736insAG (p.Ala1246fs)
|
rs1657235121
|
|
NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu)
|
rs1376293618
|
|
NM_005881.4(BCKDK):c.50_71del (p.Leu17fs)
|
rs2143936992
|
|
NM_006005.3(WFS1):c.2045A>G (p.Asn682Ser)
|
|
|
NM_006618.5(KDM5B):c.1286T>G (p.Ile429Ser)
|
rs1295611134
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
NM_006828.4(ASCC3):c.1597-2A>G
|
|
|
NM_006828.4(ASCC3):c.5996T>C (p.Leu1999Pro)
|
|
|
NM_012205.3(HAAO):c.431T>C (p.Ile144Thr)
|
|
|
NM_012205.3(HAAO):c.524G>C (p.Arg175Pro)
|
|
|
NM_012414.4(RAB3GAP2):c.3G>A (p.Met1Ile)
|
rs1381192866
|
|
NM_012448.4(STAT5B):c.91C>T (p.Arg31Trp)
|
rs2080321538
|
|
NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp)
|
rs780465961
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser)
|
rs1868847058
|
|
NM_014363.6(SACS):c.7697A>G (p.Asp2566Gly)
|
rs1868573738
|
|
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)
|
rs572772837
|
|
NM_015340.4(LARS2):c.1979A>T (p.Asp660Val)
|
rs1348647519
|
|
NM_015378.4(VPS13D):c.3353C>T (p.Thr1118Met)
|
rs1436479178
|
|
NM_016239.4(MYO15A):c.7313dup (p.Glu2439fs)
|
|
|
NM_016302.4(CRBN):c.835+1G>A
|
rs1226252969
|
|
NM_017721.5(CC2D1A):c.1620_1623dup (p.Pro542fs)
|
rs1971392241
|
|
NM_017721.5(CC2D1A):c.2693del (p.Gly898fs)
|
rs1423002835
|
|
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg)
|
rs61995958
|
|
NM_022095.4(ZNF335):c.1665+61G>A
|
rs2083829211
|
|
NM_022124.6(CDH23):c.9389_9390del (p.Pro3130fs)
|
rs2133006702
|
|
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)
|
rs557166582
|
|
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter)
|
rs2076453599
|
|
NM_024298.5(MBOAT7):c.423del (p.Leu142fs)
|
rs886041059
|
|
NM_024596.5(MCPH1):c.23-1G>C
|
rs1269068071
|
|
NM_024989.4(PGAP1):c.1501-2A>G
|
rs1288514578
|
|
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del)
|
rs587777378
|
|
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer)
|
rs2137710225
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.6135+1G>A
|
rs2035114607
|
|
NM_031466.8(TRAPPC9):c.-129_-109dup
|
rs367682297
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NM_031475.3(ESPN):c.1916-1G>C
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rs1643944047
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NM_033629.6(TREX1):c.143_144del (p.Pro48fs)
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rs748914604
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NM_033629.6(TREX1):c.341G>T (p.Arg114Leu)
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NM_080680.3(COL11A2):c.3676G>A (p.Glu1226Lys)
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rs1259912377
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NM_138387.4(G6PC3):c.101A>T (p.Asp34Val)
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rs2049968647
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NM_138694.3:c.(?_5909)_(12225_?)del
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NM_138694.4(PKHD1):c.10073A>G (p.Asp3358Gly)
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NM_138694.4(PKHD1):c.9148G>T (p.Gly3050Cys)
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NM_138775.3(ALKBH8):c.1369_1379delinsTCA (p.Val457fs)
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NM_153747.2(PIGC):c.138C>A (p.Tyr46Ter)
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rs375570541
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NM_170707.4(LMNA):c.937-3C>A
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rs756694090
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NM_173551.5(ANKS6):c.934G>C (p.Ala312Pro)
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rs1834431706
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NM_173551.5(ANKS6):c.938A>C (p.Asp313Ala)
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rs1834431047
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NM_176824.3(BBS7):c.497C>T (p.Ala166Val)
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rs1341540567
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NM_178172.6(GPIHBP1):c.422G>A (p.Trp141Ter)
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rs1284611659
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NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
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rs145844329
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NM_182961.4(SYNE1):c.8885del (p.Val2962fs)
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rs750544827
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NM_201384.3(PLEC):c.5828AGCTGG[4] (p.1943EL[4])
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rs782811601
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NM_201384.3(PLEC):c.815T>C (p.Val272Ala)
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rs1554721734
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NM_206933.4(USH2A):c.1841-377A>G
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NM_206933.4(USH2A):c.4409del (p.Leu1470fs)
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NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
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rs769838859
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NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter)
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rs2102458475
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NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)
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NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
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rs1553250952
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NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer)
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rs2102796345
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NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
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rs1571703801
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NR_003051.4(RMRP):n.120A>G
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