NM_153717.3(EVC):c.*1112T>C
|
rs28460555
|
0.20666
|
NM_153717.3(EVC):c.*1123A>G
|
rs112378896
|
0.01481
|
NM_002855.5(NECTIN1):c.*3440G>A
|
rs113799084
|
0.01372
|
NM_002855.5(NECTIN1):c.*2413A>G
|
rs78968779
|
0.01307
|
NM_002855.5(NECTIN1):c.*1139G>A
|
rs60405761
|
0.00920
|
NM_002855.5(NECTIN1):c.596G>A (p.Arg199Gln)
|
rs78809001
|
0.00872
|
NM_002855.5(NECTIN1):c.*1554G>A
|
rs77555237
|
0.00835
|
NM_002855.5(NECTIN1):c.*532T>C
|
rs138678304
|
0.00777
|
NM_002855.5(NECTIN1):c.264C>T (p.Ser88=)
|
rs7131391
|
0.00772
|
NM_153717.3(EVC):c.*922G>A
|
rs71599840
|
0.00749
|
NM_002855.5(NECTIN1):c.*607C>A
|
rs187441699
|
0.00715
|
NM_025099.6(CTC1):c.*825C>T
|
rs3027248
|
0.00659
|
NM_002855.5(NECTIN1):c.*1132G>A
|
rs147857166
|
0.00595
|
NM_001793.5(CDH3):c.-267C>T
|
rs182969772
|
0.00570
|
NM_002855.5(NECTIN1):c.*1337T>C
|
rs114244021
|
0.00558
|
NM_001814.6(CTSC):c.319-15C>T
|
rs45539936
|
0.00539
|
NM_002855.5(NECTIN1):c.*2416A>G
|
rs370905459
|
0.00417
|
NM_153717.3(EVC):c.*1136T>C
|
rs71599852
|
0.00394
|
NM_002855.5(NECTIN1):c.*3714A>T
|
rs146163519
|
0.00375
|
NM_002855.5(NECTIN1):c.*481C>T
|
rs148928883
|
0.00341
|
NM_147127.5(EVC2):c.2029C>A (p.Arg677=)
|
rs73198165
|
0.00341
|
NM_001005337.3(PKP1):c.*221C>T
|
rs547062578
|
0.00336
|
NM_002855.5(NECTIN1):c.*2751G>A
|
rs368910346
|
0.00332
|
NM_153717.3(EVC):c.-35C>A
|
rs546318095
|
0.00314
|
NM_052989.3(IFT122):c.321A>G (p.Gln107=)
|
rs138793724
|
0.00299
|
NM_020779.4(WDR35):c.*813A>T
|
rs148210550
|
0.00290
|
NM_153717.3(EVC):c.-36G>A
|
rs577263762
|
0.00288
|
NM_147127.5(EVC2):c.*90C>T
|
rs115810595
|
0.00287
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_020639.3(RIPK4):c.*416C>T
|
rs187507566
|
0.00280
|
NM_002855.5(NECTIN1):c.*185T>C
|
rs543648905
|
0.00248
|
NM_002855.5(NECTIN1):c.*315T>C
|
rs565357962
|
0.00247
|
NM_002855.5(NECTIN1):c.*84C>T
|
rs559757852
|
0.00236
|
NM_153717.3(EVC):c.*1248T>G
|
rs559890176
|
0.00230
|
NM_001363.5(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)
|
rs140308808
|
0.00221
|
NM_000165.5(GJA1):c.*214G>A
|
rs549064986
|
0.00212
|
NM_002855.5(NECTIN1):c.*2509G>A
|
rs116014183
|
0.00205
|
NM_025099.6(CTC1):c.*1176C>T
|
rs149513613
|
0.00203
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
NM_020779.4(WDR35):c.*3225G>A
|
rs189820516
|
0.00198
|
NM_020779.4(WDR35):c.*3235C>A
|
rs186978842
|
0.00198
|
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)
|
rs756852655
|
0.00195
|
NM_020779.4(WDR35):c.*997T>C
|
rs536197643
|
0.00183
|
NM_020639.3(RIPK4):c.*1234G>A
|
rs115885677
|
0.00180
|
NM_020639.3(RIPK4):c.*73G>A
|
rs188084540
|
0.00178
|
NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro)
|
rs138190335
|
0.00175
|
NM_153717.3(EVC):c.*1243A>G
|
rs111984543
|
0.00173
|
NM_001793.6(CDH3):c.*87G>C
|
rs555473968
|
0.00166
|
NM_020779.4(WDR35):c.*1582C>T
|
rs757203175
|
0.00162
|
NM_002855.5(NECTIN1):c.*3136G>A
|
rs76084281
|
0.00161
|
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His)
|
rs148436608
|
0.00161
|
NM_002855.5(NECTIN1):c.*352C>T
|
rs59681945
|
0.00157
|
NM_002855.5(NECTIN1):c.635G>A (p.Arg212His)
|
rs142930935
|
0.00157
|
NM_025099.6(CTC1):c.*558G>A
|
rs112446369
|
0.00150
|
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys)
|
rs201597047
|
0.00150
|
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg)
|
rs35926225
|
0.00150
|
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=)
|
rs144532809
|
0.00146
|
NM_153717.3(EVC):c.*971C>G
|
rs13121258
|
0.00145
|
NM_020779.4(WDR35):c.*2160T>C
|
rs192966128
|
0.00144
|
NM_020639.3(RIPK4):c.*637G>A
|
rs572218247
|
0.00137
|
NM_025099.6(CTC1):c.2478A>G (p.Thr826=)
|
rs200643329
|
0.00136
|
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)
|
rs143343508
|
0.00135
|
NM_153717.3(EVC):c.*1288T>C
|
rs1280696850
|
0.00134
|
NM_020639.3(RIPK4):c.267C>T (p.Arg89=)
|
rs55798804
|
0.00131
|
NM_020639.3(RIPK4):c.*701A>G
|
rs553704130
|
0.00130
|
NM_020639.3(RIPK4):c.832+2T>C
|
rs146341788
|
0.00129
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
NM_001793.4(CDH3):c.-646_-645insA
|
rs886052221
|
0.00124
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_001005337.3(PKP1):c.263A>G (p.Tyr88Cys)
|
rs141060367
|
0.00118
|
NM_001793.6(CDH3):c.1681G>A (p.Val561Met)
|
rs151198926
|
0.00118
|
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)
|
rs200440641
|
0.00117
|
NM_025099.6(CTC1):c.147C>T (p.Val49=)
|
rs201492796
|
0.00114
|
NM_002855.5(NECTIN1):c.*3194C>T
|
rs536746735
|
0.00112
|
NM_025099.6(CTC1):c.663T>C (p.Gly221=)
|
rs138725914
|
0.00105
|
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)
|
rs187332731
|
0.00101
|
NM_020779.4(WDR35):c.*1006G>A
|
rs80292673
|
0.00098
|
NM_020779.4(WDR35):c.*1668A>C
|
rs191316348
|
0.00098
|
NM_020779.4(WDR35):c.437-13T>C
|
rs367802842
|
0.00098
|
NM_001143992.2(WRAP53):c.1521C>T (p.His507=)
|
rs146651237
|
0.00096
|
NM_024589.3(ROGDI):c.*44C>G
|
rs200440067
|
0.00096
|
NM_020779.4(WDR35):c.507A>G (p.Lys169=)
|
rs200495720
|
0.00094
|
NM_001854.4(COL11A1):c.*628dup
|
rs532806397
|
0.00093
|
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)
|
rs151047156
|
0.00093
|
NM_153717.3(EVC):c.*263T>C
|
rs575488876
|
0.00093
|
NM_002855.5(NECTIN1):c.*736C>T
|
rs561395081
|
0.00092
|
NM_001005337.3(PKP1):c.241G>A (p.Gly81Arg)
|
rs147328328
|
0.00091
|
NM_020639.3(RIPK4):c.2145C>T (p.His715=)
|
rs61739694
|
0.00090
|
NM_147127.5(EVC2):c.3272+7C>T
|
rs201048030
|
0.00090
|
NM_002855.5(NECTIN1):c.629G>A (p.Arg210His)
|
rs142863092
|
0.00087
|
NM_002855.5(NECTIN1):c.*152C>A
|
rs541555437
|
0.00086
|
NM_052989.3(IFT122):c.41+15G>T
|
rs36222038
|
0.00084
|
NM_153717.3(EVC):c.2562-3C>T
|
rs375960614
|
0.00084
|
NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr)
|
rs114670807
|
0.00083
|
NM_198253.3(TERT):c.1849C>T (p.Leu617=)
|
rs140951453
|
0.00083
|
NM_002855.5(NECTIN1):c.*1595C>A
|
rs368193026
|
0.00082
|
NM_002855.5(NECTIN1):c.*3705G>A
|
rs184430239
|
0.00082
|
NM_020639.3(RIPK4):c.2008G>A (p.Gly670Ser)
|
rs148192173
|
0.00081
|
NM_025099.6(CTC1):c.*3186G>A
|
rs8072826
|
0.00081
|
NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser)
|
rs34813787
|
0.00079
|
NM_025132.4(WDR19):c.1198C>T (p.Leu400=)
|
rs199765304
|
0.00079
|
NM_002855.5(NECTIN1):c.130G>A (p.Gly44Ser)
|
rs137991779
|
0.00077
|
NM_020529.3(NFKBIA):c.*366G>A
|
rs552418731
|
0.00077
|
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala)
|
rs144140226
|
0.00077
|
NM_001793.5(CDH3):c.-193G>T
|
rs550203444
|
0.00076
|
NM_024589.3(ROGDI):c.783C>T (p.Phe261=)
|
rs142481526
|
0.00075
|
NM_052989.3(IFT122):c.1026C>T (p.Asp342=)
|
rs79187669
|
0.00075
|
NM_001793.5(CDH3):c.-72T>C
|
rs557660477
|
0.00074
|
NM_020639.3(RIPK4):c.1243G>A (p.Val415Met)
|
rs55645753
|
0.00073
|
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)
|
rs200059077
|
0.00073
|
NM_024589.3(ROGDI):c.243C>T (p.Ala81=)
|
rs148051351
|
0.00073
|
NM_024589.3(ROGDI):c.432+13C>T
|
rs371432203
|
0.00071
|
NM_024589.2(ROGDI):c.-131C>G
|
rs186867384
|
0.00070
|
NM_025099.6(CTC1):c.*234C>T
|
rs570408909
|
0.00070
|
NM_020639.3(RIPK4):c.*978C>G
|
rs76434022
|
0.00069
|
NM_025099.6(CTC1):c.*1156G>A
|
rs538807522
|
0.00069
|
NM_001793.4(CDH3):c.-679T>C
|
rs150247850
|
0.00068
|
NM_020779.4(WDR35):c.*2620G>A
|
rs545271105
|
0.00068
|
NM_025216.3(WNT10A):c.-123C>A
|
rs928677784
|
0.00067
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_002855.5(NECTIN1):c.*1120T>A
|
rs570248260
|
0.00066
|
NM_020779.4(WDR35):c.*2797G>A
|
rs528776835
|
0.00066
|
NM_153717.3(EVC):c.2449+12C>G
|
rs751678723
|
0.00066
|
NM_001005337.3(PKP1):c.*1229C>T
|
rs775406062
|
0.00064
|
NM_020779.4(WDR35):c.*2619C>T
|
rs565144558
|
0.00064
|
NM_025099.6(CTC1):c.*1410A>G
|
rs570429563
|
0.00064
|
NM_001793.6(CDH3):c.1785C>T (p.Val595=)
|
rs376302917
|
0.00063
|
NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly)
|
rs144549494
|
0.00062
|
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His)
|
rs34972707
|
0.00062
|
NM_001793.5(CDH3):c.-141C>G
|
rs537339409
|
0.00061
|
NM_001793.6(CDH3):c.909G>T (p.Met303Ile)
|
rs148535251
|
0.00061
|
NM_020639.3(RIPK4):c.*1361T>A
|
rs190283912
|
0.00061
|
NM_002855.5(NECTIN1):c.*296T>C
|
rs769907939
|
0.00060
|
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn)
|
rs200609501
|
0.00060
|
NM_002855.5(NECTIN1):c.1548C>T (p.Tyr516=)
|
rs146113849
|
0.00059
|
NM_024589.3(ROGDI):c.567G>A (p.Leu189=)
|
rs143000899
|
0.00059
|
NM_002855.5(NECTIN1):c.423G>A (p.Thr141=)
|
rs142753103
|
0.00058
|
NM_004004.6(GJB2):c.*115A>C
|
rs557953001
|
0.00058
|
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile)
|
rs200606803
|
0.00057
|
NM_001110219.3(GJB6):c.405G>A (p.Thr135=)
|
rs145438428
|
0.00056
|
NM_002855.5(NECTIN1):c.*3545C>G
|
rs569437093
|
0.00056
|
NM_153717.3(EVC):c.*1592C>T
|
rs193184679
|
0.00055
|
NM_022336.4(EDAR):c.-238C>T
|
rs529174103
|
0.00054
|
NM_024589.2(ROGDI):c.-338C>T
|
rs757790008
|
0.00054
|
NM_147127.5(EVC2):c.2060G>A (p.Arg687His)
|
rs144420242
|
0.00054
|
NM_001793.6(CDH3):c.1443C>T (p.Asp481=)
|
rs144403828
|
0.00053
|
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=)
|
rs143736590
|
0.00053
|
NM_025132.4(WDR19):c.3918-6A>C
|
rs199546190
|
0.00053
|
NM_020639.3(RIPK4):c.252G>A (p.Val84=)
|
rs138268998
|
0.00052
|
NM_002855.5(NECTIN1):c.*3636G>A
|
rs981570094
|
0.00051
|
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile)
|
rs151227688
|
0.00051
|
NM_025099.6(CTC1):c.*1936A>G
|
rs767476369
|
0.00051
|
NM_025132.4(WDR19):c.490G>A (p.Val164Ile)
|
rs199514431
|
0.00051
|
NM_153717.3(EVC):c.569G>T (p.Arg190Leu)
|
rs113002470
|
0.00051
|
NM_001110219.3(GJB6):c.-295-99A>C
|
rs886050035
|
0.00050
|
NM_198253.3(TERT):c.2106G>A (p.Pro702=)
|
rs151055240
|
0.00050
|
NM_153717.3(EVC):c.*709T>C
|
rs183727253
|
0.00049
|
NM_025099.6(CTC1):c.*1930A>G
|
rs780992571
|
0.00048
|
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)
|
rs201891953
|
0.00048
|
NM_198253.3(TERT):c.2130+10G>A
|
rs373879259
|
0.00048
|
NM_022336.4(EDAR):c.*625C>A
|
rs781048595
|
0.00047
|
NM_147127.5(EVC2):c.1452G>A (p.Leu484=)
|
rs137884710
|
0.00046
|
NM_153717.3(EVC):c.*3161A>C
|
rs550678702
|
0.00046
|
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala)
|
rs140753861
|
0.00045
|
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg)
|
rs201153804
|
0.00045
|
NM_153717.3(EVC):c.*1069A>G
|
rs13147953
|
0.00044
|
NM_025132.4(WDR19):c.*106T>G
|
rs147600266
|
0.00043
|
NM_000165.5(GJA1):c.*285A>T
|
rs72548748
|
0.00042
|
NM_022336.4(EDAR):c.*1108G>A
|
rs564052014
|
0.00042
|
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=)
|
rs201460514
|
0.00042
|
NM_001005337.3(PKP1):c.1134C>T (p.Arg378=)
|
rs148096263
|
0.00041
|
NM_001793.4(CDH3):c.-634_-633insG
|
rs886052224
|
0.00041
|
NM_002855.5(NECTIN1):c.*1555C>T
|
rs1023855669
|
0.00041
|
NM_002855.5(NECTIN1):c.565T>C (p.Leu189=)
|
rs140389200
|
0.00041
|
NM_020639.3(RIPK4):c.2277C>T (p.Ala759=)
|
rs201802815
|
0.00041
|
NM_025099.6(CTC1):c.*1130G>C
|
rs375962823
|
0.00040
|
NM_025216.3(WNT10A):c.*108G>A
|
rs190527122
|
0.00040
|
NM_001793.4(CDH3):c.-635_-634insG
|
rs886052222
|
0.00039
|
NM_025132.4(WDR19):c.*152G>A
|
rs533059483
|
0.00039
|
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys)
|
rs149578956
|
0.00039
|
NM_145861.4(EDARADD):c.*1072C>T
|
rs988277282
|
0.00039
|
NM_153717.3(EVC):c.*858G>A
|
rs544337142
|
0.00039
|
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp)
|
rs61744448
|
0.00038
|
NM_153717.3(EVC):c.*198G>A
|
rs181401771
|
0.00038
|
NM_002855.5(NECTIN1):c.375G>A (p.Glu125=)
|
rs146919951
|
0.00037
|
NM_018648.4(NOP10):c.55-9C>T
|
rs72720799
|
0.00037
|
NM_153717.3(EVC):c.*1256C>T
|
rs532180814
|
0.00037
|
NM_153717.3(EVC):c.*1599C>T
|
rs527297174
|
0.00037
|
NM_153717.3(EVC):c.2782+15C>G
|
rs373862588
|
0.00037
|
NM_153717.3(EVC):c.2805G>A (p.Arg935=)
|
rs143631233
|
0.00037
|
NM_001793.4(CDH3):c.-621G>A
|
rs886052225
|
0.00036
|
NM_002855.5(NECTIN1):c.*2374C>T
|
rs753029528
|
0.00036
|
NM_025099.6(CTC1):c.1734C>T (p.Ala578=)
|
rs374985738
|
0.00036
|
NM_145861.4(EDARADD):c.*757A>C
|
rs201197563
|
0.00036
|
NM_001005337.3(PKP1):c.*2623C>G
|
rs550560601
|
0.00035
|
NM_001143992.2(WRAP53):c.720A>G (p.Pro240=)
|
rs199901527
|
0.00035
|
NM_001793.6(CDH3):c.-36C>T
|
rs373351410
|
0.00035
|
NM_002855.5(NECTIN1):c.561T>A (p.Thr187=)
|
rs144990451
|
0.00035
|
NM_014112.5(TRPS1):c.*338del
|
rs530055629
|
0.00035
|
NM_020639.3(RIPK4):c.936+6G>A
|
rs199827829
|
0.00035
|
NM_001005337.3(PKP1):c.*2559A>G
|
rs563345525
|
0.00034
|
NM_025099.6(CTC1):c.*1853G>A
|
rs540866407
|
0.00034
|
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=)
|
rs371128500
|
0.00034
|
NM_052989.3(IFT122):c.1553G>A (p.Arg518His)
|
rs138223055
|
0.00034
|
NM_153717.3(EVC):c.2712C>T (p.Ser904=)
|
rs146829332
|
0.00034
|
NM_001005337.3(PKP1):c.*1730G>A
|
rs186347223
|
0.00033
|
NM_001814.6(CTSC):c.-48G>A
|
rs200415443
|
0.00033
|
NM_002855.5(NECTIN1):c.*348C>T
|
rs748100409
|
0.00033
|
NM_025099.6(CTC1):c.*797C>T
|
rs142486253
|
0.00033
|
NM_025132.4(WDR19):c.2364-15_2364-14del
|
rs555557314
|
0.00033
|
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala)
|
rs200172266
|
0.00032
|
NM_001110219.3(GJB6):c.60C>T (p.Ile20=)
|
rs778513540
|
0.00032
|
NM_025099.6(CTC1):c.*1540C>T
|
rs755418655
|
0.00032
|
NM_052989.3(IFT122):c.2643C>T (p.Ala881=)
|
rs150055466
|
0.00032
|
NM_145861.4(EDARADD):c.*272G>A
|
rs760609411
|
0.00032
|
NM_001110219.3(GJB6):c.177A>G (p.Gly59=)
|
rs371123633
|
0.00031
|
NM_001143992.2(WRAP53):c.1269-13C>T
|
rs371953585
|
0.00031
|
NM_001854.4(COL11A1):c.-198_-195del
|
rs886044981
|
0.00031
|
NM_002855.5(NECTIN1):c.*3567G>A
|
rs181207779
|
0.00031
|
NM_020779.4(WDR35):c.*1253C>G
|
rs368665906
|
0.00031
|
NM_020779.4(WDR35):c.2965-4G>T
|
rs199696980
|
0.00031
|
NM_025099.6(CTC1):c.1207-4C>T
|
rs369904656
|
0.00031
|
NM_001099274.3(TINF2):c.-233T>G
|
rs868258192
|
0.00030
|
NM_020639.3(RIPK4):c.812G>A (p.Arg271Gln)
|
rs144179743
|
0.00030
|
NM_020779.4(WDR35):c.*795C>T
|
rs190700326
|
0.00030
|
NM_020779.4(WDR35):c.2964+10C>A
|
rs201207790
|
0.00030
|
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys)
|
rs199783864
|
0.00030
|
NM_153717.3(EVC):c.-139G>A
|
rs779841092
|
0.00030
|
NM_198253.3(TERT):c.2991G>A (p.Val997=)
|
rs376266401
|
0.00030
|
NM_198253.3(TERT):c.3333G>A (p.Thr1111=)
|
rs200102606
|
0.00030
|
NM_000165.5(GJA1):c.*1252A>G
|
rs976353489
|
0.00029
|
NM_004004.6(GJB2):c.*423C>T
|
rs112457424
|
0.00029
|
NM_004004.6(GJB2):c.*598C>A
|
rs550600399
|
0.00029
|
NM_025132.4(WDR19):c.1566C>T (p.Pro522=)
|
rs200692490
|
0.00029
|
NM_025216.2(WNT10A):c.-341A>G
|
rs762914440
|
0.00029
|
NM_025216.3(WNT10A):c.756+14C>T
|
rs200733269
|
0.00029
|
NM_001814.5(CTSC):c.-80G>C
|
rs758293258
|
0.00028
|
NM_025216.3(WNT10A):c.668G>A (p.Arg223His)
|
rs143424659
|
0.00028
|
NM_145861.4(EDARADD):c.*195G>T
|
rs775159272
|
0.00028
|
NM_147127.5(EVC2):c.1886+11A>G
|
rs61218140
|
0.00028
|
NM_147127.5(EVC2):c.2416G>A (p.Val806Met)
|
rs138128087
|
0.00028
|
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met)
|
rs143430766
|
0.00027
|
NM_001110219.3(GJB6):c.-106G>T
|
rs555718664
|
0.00027
|
NM_002855.5(NECTIN1):c.*1382T>C
|
rs545288869
|
0.00027
|
NM_020779.4(WDR35):c.*1413C>T
|
rs567295822
|
0.00027
|
NM_153717.3(EVC):c.802-12C>T
|
rs61514191
|
0.00027
|
NM_002855.5(NECTIN1):c.*1330G>C
|
rs891490437
|
0.00026
|
NM_002855.5(NECTIN1):c.*2969A>T
|
rs768510314
|
0.00026
|
NM_002855.5(NECTIN1):c.1471G>A (p.Asp491Asn)
|
rs374643713
|
0.00026
|
NM_024589.3(ROGDI):c.378G>C (p.Leu126=)
|
rs145588848
|
0.00026
|
NM_153717.3(EVC):c.1797G>A (p.Ala599=)
|
rs199875230
|
0.00026
|
NM_001110219.3(GJB6):c.*25C>T
|
rs112845420
|
0.00025
|
NM_001793.4(CDH3):c.-983A>G
|
rs151123159
|
0.00025
|
NM_025099.6(CTC1):c.*536T>G
|
rs533538191
|
0.00025
|
NM_001005337.3(PKP1):c.*894T>C
|
rs566087080
|
0.00024
|
NM_020639.3(RIPK4):c.1039G>A (p.Val347Ile)
|
rs150480670
|
0.00024
|
NM_022336.4(EDAR):c.607G>A (p.Val203Ile)
|
rs148212997
|
0.00024
|
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro)
|
rs62637612
|
0.00024
|
NM_025099.6(CTC1):c.862G>A (p.Val288Met)
|
rs201553464
|
0.00024
|
NM_025132.4(WDR19):c.3484-15T>C
|
rs376870184
|
0.00024
|
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr)
|
rs149537641
|
0.00024
|
NM_198253.3(TERT):c.*237C>T
|
rs567092780
|
0.00024
|
NM_002855.5(NECTIN1):c.618G>A (p.Thr206=)
|
rs146567321
|
0.00023
|
NM_020639.3(RIPK4):c.*204G>A
|
rs533596469
|
0.00023
|
NM_145861.4(EDARADD):c.*765G>A
|
rs573814452
|
0.00023
|
NM_000165.5(GJA1):c.*521G>C
|
rs1270925038
|
0.00022
|
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met)
|
rs199790650
|
0.00022
|
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=)
|
rs369209127
|
0.00022
|
NM_025216.2(WNT10A):c.-149G>T
|
rs886055641
|
0.00022
|
NM_153717.3(EVC):c.442T>C (p.Leu148=)
|
rs139931919
|
0.00022
|
NM_198253.3(TERT):c.*83G>A
|
rs533940688
|
0.00022
|
NM_001005337.3(PKP1):c.1132C>T (p.Arg378Cys)
|
rs200975137
|
0.00021
|
NM_001110219.3(GJB6):c.*192C>T
|
rs761029974
|
0.00021
|
NM_001143992.2(WRAP53):c.187G>A (p.Val63Met)
|
rs145760222
|
0.00021
|
NM_020529.3(NFKBIA):c.*252T>G
|
rs940642653
|
0.00021
|
NM_020779.4(WDR35):c.*1370G>A
|
rs1039776865
|
0.00021
|
NM_025099.6(CTC1):c.*1534G>A
|
rs561385282
|
0.00021
|
NM_145861.4(EDARADD):c.*1250C>T
|
rs1018635371
|
0.00021
|
NM_147127.5(EVC2):c.2668G>A (p.Val890Met)
|
rs371698182
|
0.00021
|
NM_153717.3(EVC):c.*302G>A
|
rs560005309
|
0.00021
|
NM_198253.3(TERT):c.2391C>G (p.Ser797=)
|
rs377216965
|
0.00020
|
NM_001005337.3(PKP1):c.*1032C>T
|
rs147193741
|
0.00019
|
NM_001793.6(CDH3):c.918C>T (p.Asp306=)
|
rs201521473
|
0.00019
|
NM_002855.5(NECTIN1):c.480G>A (p.Lys160=)
|
rs145986556
|
0.00019
|
NM_002855.5(NECTIN1):c.79+4A>G
|
rs542760632
|
0.00019
|
NM_020639.3(RIPK4):c.*59C>T
|
rs886057088
|
0.00019
|
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys)
|
rs140196566
|
0.00019
|
NM_024589.3(ROGDI):c.*454G>A
|
rs540581745
|
0.00019
|
NM_025099.6(CTC1):c.2895C>T (p.Ala965=)
|
rs373530008
|
0.00019
|
NM_025099.6(CTC1):c.597G>A (p.Thr199=)
|
rs373023392
|
0.00019
|
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala)
|
rs199678654
|
0.00019
|
NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp)
|
rs368280129
|
0.00019
|
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro)
|
rs148407223
|
0.00019
|
NM_153717.3(EVC):c.*3170T>C
|
rs886059519
|
0.00019
|
NM_153717.3(EVC):c.-163G>A
|
rs989585218
|
0.00019
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_001793.6(CDH3):c.*3G>T
|
rs372478072
|
0.00017
|
NM_002855.5(NECTIN1):c.*3629C>G
|
rs538935498
|
0.00017
|
NM_004278.4(PIGL):c.446G>C (p.Gly149Ala)
|
rs140211194
|
0.00017
|
NM_025099.6(CTC1):c.-10C>T
|
rs201782976
|
0.00017
|
NM_145861.4(EDARADD):c.*2052C>T
|
rs759188384
|
0.00017
|
NM_153717.3(EVC):c.*1573T>A
|
rs958649706
|
0.00017
|
NM_000165.5(GJA1):c.*926A>T
|
rs765290352
|
0.00016
|
NM_001793.6(CDH3):c.1339G>A (p.Val447Ile)
|
rs145160881
|
0.00016
|
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys)
|
rs142378484
|
0.00016
|
NM_002855.5(NECTIN1):c.1194C>T (p.Asn398=)
|
rs188936128
|
0.00016
|
NM_015559.3(SETBP1):c.*1377G>A
|
rs886053804
|
0.00016
|
NM_020779.4(WDR35):c.*1062G>A
|
rs778834686
|
0.00016
|
NM_022336.4(EDAR):c.*1798G>C
|
rs756408508
|
0.00016
|
NM_025099.6(CTC1):c.*1046T>C
|
rs550911189
|
0.00016
|
NM_025099.6(CTC1):c.*2530G>A
|
rs780560618
|
0.00016
|
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=)
|
rs531326479
|
0.00016
|
NM_052989.3(IFT122):c.1009-14C>T
|
rs202155515
|
0.00016
|
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr)
|
rs201201603
|
0.00016
|
NM_147127.5(EVC2):c.615G>A (p.Leu205=)
|
rs140864640
|
0.00016
|
NM_153717.3(EVC):c.*2808C>T
|
rs558094887
|
0.00016
|
NM_004278.4(PIGL):c.439G>A (p.Asp147Asn)
|
rs148238492
|
0.00015
|
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val)
|
rs370951527
|
0.00015
|
NM_024589.3(ROGDI):c.823-15C>T
|
rs372520122
|
0.00015
|
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=)
|
rs555652075
|
0.00015
|
NM_153717.3(EVC):c.*907C>T
|
rs71599839
|
0.00015
|
NM_153717.3(EVC):c.105C>A (p.Gly35=)
|
rs745558003
|
0.00015
|
NM_000165.5(GJA1):c.*1077T>C
|
rs528853645
|
0.00014
|
NM_001005337.3(PKP1):c.*2281C>T
|
rs1010792641
|
0.00014
|
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln)
|
rs758614807
|
0.00014
|
NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys)
|
rs146182103
|
0.00014
|
NM_025099.6(CTC1):c.*1042T>C
|
rs974655494
|
0.00014
|
NM_052989.3(IFT122):c.2577G>A (p.Glu859=)
|
rs201077232
|
0.00014
|
NM_153717.3(EVC):c.1818A>C (p.Thr606=)
|
rs202093497
|
0.00014
|
NM_198253.3(TERT):c.645C>T (p.Gly215=)
|
rs768426236
|
0.00014
|
NM_000165.5(GJA1):c.706G>A (p.Val236Ile)
|
rs148384161
|
0.00013
|
NM_001005337.3(PKP1):c.1557C>T (p.Ser519=)
|
rs150488138
|
0.00013
|
NM_001793.6(CDH3):c.*405G>A
|
rs778268579
|
0.00013
|
NM_001793.6(CDH3):c.390+5G>A
|
rs570628442
|
0.00013
|
NM_020639.3(RIPK4):c.*1203A>T
|
rs555235524
|
0.00013
|
NM_020639.3(RIPK4):c.277G>A (p.Gly93Ser)
|
rs372343704
|
0.00013
|
NM_022336.4(EDAR):c.*188G>C
|
rs768401042
|
0.00013
|
NM_025099.6(CTC1):c.*1177C>T
|
rs886053604
|
0.00013
|
NM_025099.6(CTC1):c.*64T>G
|
rs886053609
|
0.00013
|
NM_025132.4(WDR19):c.1134+13T>G
|
rs374615138
|
0.00013
|
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val)
|
rs373737104
|
0.00013
|
NM_025132.4(WDR19):c.3483+5G>A
|
rs201216969
|
0.00013
|
NM_153717.3(EVC):c.*1871C>T
|
rs150764469
|
0.00013
|
NM_153717.3(EVC):c.*2569C>T
|
rs117573606
|
0.00013
|
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly)
|
rs370721640
|
0.00013
|
NM_001005337.3(PKP1):c.*1203C>T
|
rs574230662
|
0.00012
|
NM_001005337.3(PKP1):c.*2460C>T
|
rs916166946
|
0.00012
|
NM_001005337.3(PKP1):c.*2591G>A
|
rs889060249
|
0.00012
|
NM_002855.5(NECTIN1):c.*795C>A
|
rs750967066
|
0.00012
|
NM_004004.6(GJB2):c.*114T>C
|
rs182085649
|
0.00012
|
NM_022336.4(EDAR):c.-256C>T
|
rs970357940
|
0.00012
|
NM_025099.6(CTC1):c.*1630G>A
|
rs77202978
|
0.00012
|
NM_153717.3(EVC):c.*1369G>A
|
rs1414205292
|
0.00012
|
NM_153717.3(EVC):c.*1403C>T
|
rs547015924
|
0.00012
|
NM_153717.3(EVC):c.-20C>A
|
rs991444136
|
0.00012
|
NM_000165.5(GJA1):c.*444A>G
|
rs919415571
|
0.00011
|
NM_001143992.2(WRAP53):c.1035C>T (p.Tyr345=)
|
rs138784430
|
0.00011
|
NM_001793.4(CDH3):c.-1085A>G
|
rs768872455
|
0.00011
|
NM_002855.5(NECTIN1):c.*201G>A
|
rs982875298
|
0.00011
|
NM_004004.6(GJB2):c.*800A>G
|
rs886050027
|
0.00011
|
NM_018081.2(WRAP53):c.-255G>A
|
rs564330662
|
0.00011
|
NM_020639.3(RIPK4):c.1779G>A (p.Pro593=)
|
rs202049606
|
0.00011
|
NM_020639.3(RIPK4):c.2041G>A (p.Gly681Arg)
|
rs371444612
|
0.00011
|
NM_020779.4(WDR35):c.*2618G>A
|
rs563586298
|
0.00011
|
NM_022336.4(EDAR):c.*499C>T
|
rs886054743
|
0.00011
|
NM_025099.6(CTC1):c.*1125G>C
|
rs779298230
|
0.00011
|
NM_025132.4(WDR19):c.1249+9A>G
|
rs201377206
|
0.00011
|
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly)
|
rs201051877
|
0.00011
|
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala)
|
rs202232525
|
0.00011
|
NM_025216.3(WNT10A):c.149C>T (p.Pro50Leu)
|
rs199980023
|
0.00011
|
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val)
|
rs147341636
|
0.00011
|
NM_145861.4(EDARADD):c.*1508C>T
|
rs886046196
|
0.00011
|
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys)
|
rs371876802
|
0.00011
|
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln)
|
rs145786485
|
0.00011
|
NM_153717.3(EVC):c.*1568C>T
|
rs886059514
|
0.00011
|
NM_153717.3(EVC):c.2298C>T (p.Asp766=)
|
rs140546984
|
0.00011
|
NM_153717.3(EVC):c.2341G>A (p.Val781Met)
|
rs370514515
|
0.00011
|
NM_000165.5(GJA1):c.*1334T>C
|
rs749953074
|
0.00010
|
NM_000165.5(GJA1):c.*191G>A
|
rs886061012
|
0.00010
|
NM_001793.6(CDH3):c.*498G>A
|
rs746152331
|
0.00010
|
NM_001793.6(CDH3):c.2361C>T (p.Ser787=)
|
rs201352240
|
0.00010
|
NM_001814.6(CTSC):c.29C>T (p.Ala10Val)
|
rs765499436
|
0.00010
|
NM_002855.5(NECTIN1):c.*2439G>A
|
rs899031960
|
0.00010
|
NM_002855.5(NECTIN1):c.*3425G>A
|
rs963530966
|
0.00010
|
NM_004278.4(PIGL):c.354A>G (p.Pro118=)
|
rs149094276
|
0.00010
|
NM_004278.4(PIGL):c.542C>T (p.Thr181Met)
|
rs748231024
|
0.00010
|
NM_014112.5(TRPS1):c.-487A>C
|
rs886062633
|
0.00010
|
NM_018648.4(NOP10):c.*172T>G
|
rs886051058
|
0.00010
|
NM_020639.3(RIPK4):c.*1248C>T
|
rs755144689
|
0.00010
|
NM_020639.3(RIPK4):c.*60G>A
|
rs886057087
|
0.00010
|
NM_025099.6(CTC1):c.*1201T>C
|
rs886053603
|
0.00010
|
NM_025099.6(CTC1):c.*1475A>G
|
rs745973862
|
0.00010
|
NM_025099.6(CTC1):c.*1861A>G
|
rs868663416
|
0.00010
|
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val)
|
rs192495145
|
0.00010
|
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg)
|
rs190192706
|
0.00010
|
NM_025216.2(WNT10A):c.-270G>C
|
rs774035749
|
0.00010
|
NM_147127.5(EVC2):c.2340C>T (p.His780=)
|
rs150691722
|
0.00010
|
NM_153717.3(EVC):c.*2847G>A
|
rs935054019
|
0.00010
|
NM_153717.3(EVC):c.*355C>G
|
rs933138943
|
0.00010
|
NM_153717.3(EVC):c.677C>T (p.Thr226Met)
|
rs201583621
|
0.00010
|
NM_001005337.3(PKP1):c.*2778C>T
|
rs886045826
|
0.00009
|
NM_001110219.3(GJB6):c.-295-192A>G
|
rs886050036
|
0.00009
|
NM_001110219.3(GJB6):c.-33G>A
|
rs533982140
|
0.00009
|
NM_001143992.2(WRAP53):c.-62C>T
|
rs748265946
|
0.00009
|
NM_001814.6(CTSC):c.-49C>T
|
rs779871521
|
0.00009
|
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys)
|
rs200627023
|
0.00009
|
NM_002855.5(NECTIN1):c.*1184G>T
|
rs370017613
|
0.00009
|
NM_002855.5(NECTIN1):c.*2551T>G
|
rs570496726
|
0.00009
|
NM_002855.5(NECTIN1):c.*853C>G
|
rs368934157
|
0.00009
|
NM_002855.5(NECTIN1):c.1333G>A (p.Gly445Ser)
|
rs539461545
|
0.00009
|
NM_002855.5(NECTIN1):c.1520G>A (p.Gly507Glu)
|
rs202095358
|
0.00009
|
NM_002855.5(NECTIN1):c.502C>T (p.Leu168=)
|
rs149093951
|
0.00009
|
NM_020639.3(RIPK4):c.*1117T>C
|
rs941229311
|
0.00009
|
NM_020639.3(RIPK4):c.1862G>A (p.Arg621His)
|
rs56056485
|
0.00009
|
NM_020639.3(RIPK4):c.959G>A (p.Arg320Gln)
|
rs187728866
|
0.00009
|
NM_020779.4(WDR35):c.*2559A>G
|
rs751743368
|
0.00009
|
NM_020779.4(WDR35):c.*2887T>C
|
rs749198501
|
0.00009
|
NM_020779.4(WDR35):c.*712A>T
|
rs572859023
|
0.00009
|
NM_024589.3(ROGDI):c.*54C>G
|
rs76593206
|
0.00009
|
NM_024589.3(ROGDI):c.410A>G (p.Lys137Arg)
|
rs374819268
|
0.00009
|
NM_025099.6(CTC1):c.*2353A>G
|
rs559152657
|
0.00009
|
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln)
|
rs775779700
|
0.00009
|
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys)
|
rs201879837
|
0.00009
|
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys)
|
rs201885165
|
0.00009
|
NM_025132.4(WDR19):c.2364-15T>C
|
rs771036360
|
0.00009
|
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=)
|
rs146778076
|
0.00009
|
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His)
|
rs201755623
|
0.00009
|
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter)
|
rs138329739
|
0.00009
|
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp)
|
rs200479973
|
0.00009
|
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu)
|
rs780968816
|
0.00009
|
NM_153717.3(EVC):c.899A>C (p.Glu300Ala)
|
rs149529742
|
0.00009
|
NM_198253.3(TERT):c.1974G>A (p.Val658=)
|
rs778496417
|
0.00009
|
NM_198253.3(TERT):c.2001C>T (p.Tyr667=)
|
rs758494245
|
0.00009
|
NM_001110219.3(GJB6):c.672A>G (p.Arg224=)
|
rs756597598
|
0.00008
|
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn)
|
rs201340741
|
0.00008
|
NM_001143992.2(WRAP53):c.495C>T (p.Ser165=)
|
rs147817526
|
0.00008
|
NM_001793.6(CDH3):c.1632T>G (p.His544Gln)
|
rs779777939
|
0.00008
|
NM_001793.6(CDH3):c.798C>T (p.His266=)
|
rs748455192
|
0.00008
|
NM_002855.5(NECTIN1):c.*3365G>A
|
rs574961662
|
0.00008
|
NM_002855.5(NECTIN1):c.1182C>T (p.His394=)
|
rs761931104
|
0.00008
|
NM_020779.4(WDR35):c.*563T>G
|
rs561642193
|
0.00008
|
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys)
|
rs201860485
|
0.00008
|
NM_022336.4(EDAR):c.*2189G>T
|
rs547979348
|
0.00008
|
NM_025099.6(CTC1):c.*474G>A
|
rs139392724
|
0.00008
|
NM_025099.6(CTC1):c.1946-6C>T
|
rs369285521
|
0.00008
|
NM_025099.6(CTC1):c.195T>C (p.Tyr65=)
|
rs764616648
|
0.00008
|
NM_025132.4(WDR19):c.1357-7G>A
|
rs377101599
|
0.00008
|
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys)
|
rs779635441
|
0.00008
|
NM_052989.3(IFT122):c.-3G>A
|
rs367704478
|
0.00008
|
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu)
|
rs147499719
|
0.00008
|
NM_052989.3(IFT122):c.2721G>A (p.Ala907=)
|
rs371570973
|
0.00008
|
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln)
|
rs376018883
|
0.00008
|
NM_145861.4(EDARADD):c.*863C>T
|
rs570062425
|
0.00008
|
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys)
|
rs375693723
|
0.00008
|
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg)
|
rs200743695
|
0.00008
|
NM_153717.3(EVC):c.2102C>T (p.Ala701Val)
|
rs571809727
|
0.00008
|
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln)
|
rs752020764
|
0.00008
|
NM_198253.3(TERT):c.2127C>G (p.Val709=)
|
rs765264494
|
0.00008
|
NM_000165.5(GJA1):c.-161G>T
|
rs764033415
|
0.00007
|
NM_001110219.3(GJB6):c.30C>T (p.Ile10=)
|
rs377181573
|
0.00007
|
NM_001793.6(CDH3):c.2115G>A (p.Gly705=)
|
rs200124759
|
0.00007
|
NM_001793.6(CDH3):c.318G>A (p.Lys106=)
|
rs886052229
|
0.00007
|
NM_020779.4(WDR35):c.*1146T>C
|
rs1036362475
|
0.00007
|
NM_020779.4(WDR35):c.*1207C>G
|
rs1466981368
|
0.00007
|
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu)
|
rs774768083
|
0.00007
|
NM_025099.6(CTC1):c.*1711A>G
|
rs563822041
|
0.00007
|
NM_025099.6(CTC1):c.*2842G>A
|
rs1035127593
|
0.00007
|
NM_025132.4(WDR19):c.1839A>G (p.Leu613=)
|
rs201320006
|
0.00007
|
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg)
|
rs756321262
|
0.00007
|
NM_153717.3(EVC):c.*662G>A
|
rs866110948
|
0.00007
|
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly)
|
rs540660500
|
0.00007
|
NM_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
0.00007
|
NM_001005337.3(PKP1):c.*1716C>T
|
rs543171855
|
0.00006
|
NM_001005337.3(PKP1):c.1200T>C (p.Pro400=)
|
rs375406840
|
0.00006
|
NM_001005337.3(PKP1):c.1585C>T (p.Arg529Cys)
|
rs747503125
|
0.00006
|
NM_001005337.3(PKP1):c.346C>T (p.Arg116Cys)
|
rs536458815
|
0.00006
|
NM_001005337.3(PKP1):c.417C>T (p.Gly139=)
|
rs374045033
|
0.00006
|
NM_001099274.3(TINF2):c.-277C>G
|
rs886050435
|
0.00006
|
NM_001110219.3(GJB6):c.-296+210C>A
|
rs886050039
|
0.00006
|
NM_001793.6(CDH3):c.1593G>A (p.Thr531=)
|
rs147208782
|
0.00006
|
NM_001793.6(CDH3):c.2419G>A (p.Asp807Asn)
|
rs535174122
|
0.00006
|
NM_001793.6(CDH3):c.34C>T (p.Leu12Phe)
|
rs373974671
|
0.00006
|
NM_001814.6(CTSC):c.948G>C (p.Leu316=)
|
rs145373075
|
0.00006
|
NM_002755.4(MAP2K1):c.*148_*149del
|
rs745540522
|
0.00006
|
NM_002855.5(NECTIN1):c.*2847C>T
|
rs572933507
|
0.00006
|
NM_002855.5(NECTIN1):c.*3032T>C
|
rs774879984
|
0.00006
|
NM_002855.5(NECTIN1):c.*886C>T
|
rs992176073
|
0.00006
|
NM_002855.5(NECTIN1):c.177C>T (p.Ser59=)
|
rs139418917
|
0.00006
|
NM_002855.5(NECTIN1):c.429G>A (p.Met143Ile)
|
rs371142221
|
0.00006
|
NM_004004.6(GJB2):c.-1G>A
|
rs768338285
|
0.00006
|
NM_004278.4(PIGL):c.*184A>C
|
rs886052643
|
0.00006
|
NM_020639.3(RIPK4):c.*1081C>T
|
rs886057082
|
0.00006
|
NM_020639.3(RIPK4):c.*281G>A
|
rs576215477
|
0.00006
|
NM_020639.3(RIPK4):c.1344C>T (p.Ala448=)
|
rs577583084
|
0.00006
|
NM_020639.3(RIPK4):c.474+14C>T
|
rs532592992
|
0.00006
|
NM_020779.4(WDR35):c.1250A>T (p.Asp417Val)
|
rs371757004
|
0.00006
|
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln)
|
rs146380332
|
0.00006
|
NM_020779.4(WDR35):c.2137G>A (p.Asp713Asn)
|
rs778732776
|
0.00006
|
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser)
|
rs200258619
|
0.00006
|
NM_022336.4(EDAR):c.*1710G>C
|
rs1042398708
|
0.00006
|
NM_022336.4(EDAR):c.*402G>A
|
rs758376546
|
0.00006
|
NM_024589.2(ROGDI):c.-127C>T
|
rs996686042
|
0.00006
|
NM_024589.3(ROGDI):c.822+14G>A
|
rs200558978
|
0.00006
|
NM_025099.6(CTC1):c.*1166C>T
|
rs753309673
|
0.00006
|
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp)
|
rs200222583
|
0.00006
|
NM_025099.6(CTC1):c.2472C>T (p.Pro824=)
|
rs558802130
|
0.00006
|
NM_025099.6(CTC1):c.596C>T (p.Thr199Met)
|
rs747323535
|
0.00006
|
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr)
|
rs754631759
|
0.00006
|
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser)
|
rs545916111
|
0.00006
|
NM_033360.4(KRAS):c.*2815C>T
|
rs886049185
|
0.00006
|
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp)
|
rs139079256
|
0.00006
|
NM_052989.3(IFT122):c.1758C>G (p.His586Gln)
|
rs141889207
|
0.00006
|
NM_052989.3(IFT122):c.1940G>A (p.Arg647His)
|
rs750301228
|
0.00006
|
NM_052989.3(IFT122):c.3128G>A (p.Arg1043His)
|
rs576743578
|
0.00006
|
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys)
|
rs771499492
|
0.00006
|
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp)
|
rs140547512
|
0.00006
|
NM_052989.3(IFT122):c.783G>A (p.Gln261=)
|
rs144727222
|
0.00006
|
NM_145861.4(EDARADD):c.*1004G>A
|
rs750918090
|
0.00006
|
NM_145861.4(EDARADD):c.*100C>T
|
rs886046187
|
0.00006
|
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys)
|
rs144270330
|
0.00006
|
NM_147127.5(EVC2):c.2829+9A>C
|
rs370232376
|
0.00006
|
NM_147127.5(EVC2):c.337C>T (p.Leu113Phe)
|
rs768224457
|
0.00006
|
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=)
|
rs201651890
|
0.00006
|
NM_153717.3(EVC):c.*1150A>G
|
rs1195713966
|
0.00006
|
NM_153717.3(EVC):c.*1313C>T
|
rs548196260
|
0.00006
|
NM_153717.3(EVC):c.*1554A>C
|
rs531598994
|
0.00006
|
NM_153717.3(EVC):c.*2321C>T
|
rs928733602
|
0.00006
|
NM_153717.3(EVC):c.*2361C>T
|
rs570533057
|
0.00006
|
NM_153717.3(EVC):c.*3118C>G
|
rs906071299
|
0.00006
|
NM_153717.3(EVC):c.1242C>T (p.Ser414=)
|
rs769206763
|
0.00006
|
NM_198253.3(TERT):c.2654+10G>A
|
rs375473823
|
0.00006
|
NM_001005337.3(PKP1):c.*1040G>A
|
rs774719541
|
0.00005
|
NM_001005337.3(PKP1):c.*1643C>A
|
rs548099839
|
0.00005
|
NM_001005337.3(PKP1):c.1747C>T (p.Leu583=)
|
rs369918615
|
0.00005
|
NM_001110219.3(GJB6):c.-149G>A
|
rs886050032
|
0.00005
|
NM_001793.6(CDH3):c.1240G>A (p.Ala414Thr)
|
rs145203128
|
0.00005
|
NM_001793.6(CDH3):c.2227A>G (p.Met743Val)
|
rs367654075
|
0.00005
|
NM_001793.6(CDH3):c.2469C>T (p.Tyr823=)
|
rs576190086
|
0.00005
|
NM_001793.6(CDH3):c.547-12T>C
|
rs370978420
|
0.00005
|
NM_002855.5(NECTIN1):c.*1368G>A
|
rs576817361
|
0.00005
|
NM_002855.5(NECTIN1):c.*521G>C
|
rs998507978
|
0.00005
|
NM_002855.5(NECTIN1):c.431-4G>A
|
rs375284374
|
0.00005
|
NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu)
|
rs371482940
|
0.00005
|
NM_020639.3(RIPK4):c.*1206A>G
|
rs369347545
|
0.00005
|
NM_020639.3(RIPK4):c.2139C>T (p.His713=)
|
rs202070628
|
0.00005
|
NM_020639.3(RIPK4):c.504C>T (p.Asn168=)
|
rs200523041
|
0.00005
|
NM_020779.4(WDR35):c.*1957C>T
|
rs947201612
|
0.00005
|
NM_020779.4(WDR35):c.215-4C>G
|
rs369080910
|
0.00005
|
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val)
|
rs763618858
|
0.00005
|
NM_020779.4(WDR35):c.2836G>A (p.Glu946Lys)
|
rs779009587
|
0.00005
|
NM_025099.6(CTC1):c.*2146G>A
|
rs773269538
|
0.00005
|
NM_025099.6(CTC1):c.*2296T>A
|
rs777042904
|
0.00005
|
NM_025099.6(CTC1):c.*3079C>T
|
rs890664978
|
0.00005
|
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln)
|
rs201788219
|
0.00005
|
NM_025132.4(WDR19):c.1173C>T (p.Asn391=)
|
rs777985189
|
0.00005
|
NM_025216.3(WNT10A):c.551G>A (p.Arg184His)
|
rs372756514
|
0.00005
|
NM_033360.4(KRAS):c.*2391_*2392insC
|
rs886049188
|
0.00005
|
NM_052989.3(IFT122):c.228C>T (p.Ser76=)
|
rs772835552
|
0.00005
|
NM_052989.3(IFT122):c.54C>T (p.Ile18=)
|
rs139138308
|
0.00005
|
NM_052989.3(IFT122):c.876C>T (p.Gly292=)
|
rs768782991
|
0.00005
|
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp)
|
rs760871098
|
0.00005
|
NM_147127.5(EVC2):c.446G>A (p.Arg149His)
|
rs202198132
|
0.00005
|
NM_153717.3(EVC):c.*1766C>T
|
rs1012765159
|
0.00005
|
NM_153717.3(EVC):c.1019G>A (p.Arg340Gln)
|
rs775052481
|
0.00005
|
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln)
|
rs767013073
|
0.00005
|
NM_153717.3(EVC):c.2961G>A (p.Lys987=)
|
rs138808610
|
0.00005
|
NM_001005337.3(PKP1):c.*320G>T
|
rs886045816
|
0.00004
|
NM_001005337.3(PKP1):c.1258C>T (p.Arg420Cys)
|
rs146785756
|
0.00004
|
NM_001005337.3(PKP1):c.1401C>T (p.Ala467=)
|
rs569564663
|
0.00004
|
NM_001005337.3(PKP1):c.2051G>A (p.Arg684Gln)
|
rs573352897
|
0.00004
|
NM_001005337.3(PKP1):c.383G>A (p.Arg128Gln)
|
rs775588543
|
0.00004
|
NM_001005337.3(PKP1):c.996C>T (p.Arg332=)
|
rs147633517
|
0.00004
|
NM_001099274.3(TINF2):c.30A>G (p.Ala10=)
|
rs779819186
|
0.00004
|
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln)
|
rs779837822
|
0.00004
|
NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu)
|
rs727505123
|
0.00004
|
NM_001143992.2(WRAP53):c.330C>T (p.Asn110=)
|
rs150180394
|
0.00004
|
NM_001143992.2(WRAP53):c.976G>A (p.Gly326Ser)
|
rs758704444
|
0.00004
|
NM_001793.6(CDH3):c.-11T>C
|
rs370893872
|
0.00004
|
NM_001793.6(CDH3):c.1011G>C (p.Val337=)
|
rs201726457
|
0.00004
|
NM_001793.6(CDH3):c.1221C>T (p.Tyr407=)
|
rs368241091
|
0.00004
|
NM_001793.6(CDH3):c.1808T>C (p.Val603Ala)
|
rs367858076
|
0.00004
|
NM_001793.6(CDH3):c.2362G>A (p.Asp788Asn)
|
rs377354522
|
0.00004
|
NM_001793.6(CDH3):c.654C>T (p.Asp218=)
|
rs763136509
|
0.00004
|
NM_001793.6(CDH3):c.867+6T>C
|
rs753122508
|
0.00004
|
NM_001814.6(CTSC):c.*381A>G
|
rs939550734
|
0.00004
|
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln)
|
rs575727793
|
0.00004
|
NM_002855.5(NECTIN1):c.*1129A>T
|
rs140371623
|
0.00004
|
NM_002855.5(NECTIN1):c.*1266C>T
|
rs1305206364
|
0.00004
|
NM_002855.5(NECTIN1):c.*1666C>T
|
rs187027061
|
0.00004
|
NM_002855.5(NECTIN1):c.*2397A>C
|
rs964715355
|
0.00004
|
NM_002855.5(NECTIN1):c.*2398G>T
|
rs1018126118
|
0.00004
|
NM_002855.5(NECTIN1):c.*3488C>T
|
rs139964288
|
0.00004
|
NM_002855.5(NECTIN1):c.900C>G (p.Leu300=)
|
rs1294282077
|
0.00004
|
NM_004004.6(GJB2):c.*1040A>G
|
rs1370756376
|
0.00004
|
NM_004004.6(GJB2):c.*236A>T
|
rs922232025
|
0.00004
|
NM_004004.6(GJB2):c.*308G>A
|
rs886090162
|
0.00004
|
NM_004278.4(PIGL):c.*324A>G
|
rs886052645
|
0.00004
|
NM_004415.4(DSP):c.1469G>A (p.Arg490His)
|
rs747815091
|
0.00004
|
NM_004415.4(DSP):c.939C>T (p.Ser313=)
|
rs766580649
|
0.00004
|
NM_018648.4(NOP10):c.-57C>T
|
rs775092898
|
0.00004
|
NM_018648.4(NOP10):c.51G>C (p.Leu17=)
|
rs761222362
|
0.00004
|
NM_020639.3(RIPK4):c.*823A>G
|
rs182698444
|
0.00004
|
NM_020639.3(RIPK4):c.1137C>T (p.Ser379=)
|
rs200420912
|
0.00004
|
NM_020639.3(RIPK4):c.1164G>A (p.Ser388=)
|
rs535635195
|
0.00004
|
NM_020779.4(WDR35):c.*1219G>A
|
rs1003005484
|
0.00004
|
NM_020779.4(WDR35):c.*2989C>T
|
rs886055392
|
0.00004
|
NM_020779.4(WDR35):c.*3269G>A
|
rs886055391
|
0.00004
|
NM_020779.4(WDR35):c.1029T>C (p.Thr343=)
|
rs536150588
|
0.00004
|
NM_020779.4(WDR35):c.1053T>C (p.Pro351=)
|
rs74385826
|
0.00004
|
NM_020779.4(WDR35):c.1697C>T (p.Thr566Met)
|
rs780159239
|
0.00004
|
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His)
|
rs200760434
|
0.00004
|
NM_020779.4(WDR35):c.798C>T (p.Ser266=)
|
rs141118263
|
0.00004
|
NM_020779.4(WDR35):c.958C>A (p.Leu320Ile)
|
rs573430534
|
0.00004
|
NM_022336.4(EDAR):c.*191C>T
|
rs780909525
|
0.00004
|
NM_022336.4(EDAR):c.*639T>G
|
rs750539909
|
0.00004
|
NM_022336.4(EDAR):c.-226T>C
|
rs886054748
|
0.00004
|
NM_022336.4(EDAR):c.208G>A (p.Gly70Ser)
|
rs759735008
|
0.00004
|
NM_024589.3(ROGDI):c.389G>A (p.Arg130Gln)
|
rs374603311
|
0.00004
|
NM_024589.3(ROGDI):c.555G>C (p.Pro185=)
|
rs771793763
|
0.00004
|
NM_025099.6(CTC1):c.*1495G>A
|
rs886053600
|
0.00004
|
NM_025099.6(CTC1):c.*1964G>A
|
rs1167690919
|
0.00004
|
NM_025099.6(CTC1):c.*2007A>G
|
rs886053591
|
0.00004
|
NM_025099.6(CTC1):c.*218T>G
|
rs886053607
|
0.00004
|
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile)
|
rs377491661
|
0.00004
|
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys)
|
rs201148758
|
0.00004
|
NM_025132.4(WDR19):c.2577G>A (p.Ala859=)
|
rs753596825
|
0.00004
|
NM_025216.3(WNT10A):c.1134C>T (p.Gly378=)
|
rs886055644
|
0.00004
|
NM_025216.3(WNT10A):c.349C>T (p.Pro117Ser)
|
rs144212422
|
0.00004
|
NM_025216.3(WNT10A):c.437C>G (p.Ser146Cys)
|
rs759718991
|
0.00004
|
NM_025216.3(WNT10A):c.498C>T (p.Asp166=)
|
rs143463683
|
0.00004
|
NM_052985.3(IFT122):c.-145T>A
|
rs923805618
|
0.00004
|
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu)
|
rs781181264
|
0.00004
|
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val)
|
rs376549217
|
0.00004
|
NM_052989.3(IFT122):c.273-260T>C
|
rs369997431
|
0.00004
|
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys)
|
rs553449191
|
0.00004
|
NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu)
|
rs368574590
|
0.00004
|
NM_052989.3(IFT122):c.752A>G (p.Asn251Ser)
|
rs754782458
|
0.00004
|
NM_145861.4(EDARADD):c.*1149G>A
|
rs886046194
|
0.00004
|
NM_145861.4(EDARADD):c.*1303T>G
|
rs780044781
|
0.00004
|
NM_145861.4(EDARADD):c.*1738A>G
|
rs878897423
|
0.00004
|
NM_147127.5(EVC2):c.1122G>A (p.Gly374=)
|
rs780172151
|
0.00004
|
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg)
|
rs369076839
|
0.00004
|
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala)
|
rs190540235
|
0.00004
|
NM_147127.5(EVC2):c.2706+13T>C
|
rs200000369
|
0.00004
|
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln)
|
rs573448772
|
0.00004
|
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu)
|
rs370838180
|
0.00004
|
NM_153717.3(EVC):c.*104G>A
|
rs753484436
|
0.00004
|
NM_153717.3(EVC):c.*254G>A
|
rs557237233
|
0.00004
|
NM_153717.3(EVC):c.*2593C>T
|
rs943646882
|
0.00004
|
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn)
|
rs150923920
|
0.00004
|
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser)
|
rs777024713
|
0.00004
|
NM_153717.3(EVC):c.455C>T (p.Pro152Leu)
|
rs371671127
|
0.00004
|
NM_153717.3(EVC):c.717T>A (p.Ile239=)
|
rs372312182
|
0.00004
|
NM_198253.3(TERT):c.*230T>C
|
rs751808151
|
0.00004
|
NM_198253.3(TERT):c.2263G>A (p.Val755Ile)
|
rs576633619
|
0.00004
|
NM_198253.3(TERT):c.2580C>T (p.Asp860=)
|
rs751752830
|
0.00004
|
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)
|
rs373400596
|
0.00004
|
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu)
|
rs376255453
|
0.00004
|
NM_000165.5(GJA1):c.*1143T>G
|
rs765423162
|
0.00003
|
NM_001005337.3(PKP1):c.*1498A>G
|
rs886045822
|
0.00003
|
NM_001005337.3(PKP1):c.*56C>A
|
rs886045812
|
0.00003
|
NM_001005337.3(PKP1):c.136A>T (p.Met46Leu)
|
rs369806569
|
0.00003
|
NM_001005337.3(PKP1):c.2015G>A (p.Arg672Gln)
|
rs139909774
|
0.00003
|
NM_001110219.3(GJB6):c.-122T>C
|
rs886050031
|
0.00003
|
NM_001143992.2(WRAP53):c.1268C>T (p.Pro423Leu)
|
rs762178428
|
0.00003
|
NM_001793.6(CDH3):c.2484C>T (p.Asp828=)
|
rs202210726
|
0.00003
|
NM_002855.5(NECTIN1):c.431-5C>T
|
rs559278757
|
0.00003
|
NM_002855.5(NECTIN1):c.682G>A (p.Val228Ile)
|
rs200513188
|
0.00003
|
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly)
|
rs201839979
|
0.00003
|
NM_014112.5(TRPS1):c.*2752_*2754del
|
rs886062612
|
0.00003
|
NM_018648.4(NOP10):c.*132T>G
|
rs995405881
|
0.00003
|
NM_020529.3(NFKBIA):c.379G>A (p.Ala127Thr)
|
rs377380656
|
0.00003
|
NM_020529.3(NFKBIA):c.547+10C>T
|
rs201614038
|
0.00003
|
NM_020639.3(RIPK4):c.1561C>T (p.Arg521Trp)
|
rs148559295
|
0.00003
|
NM_020779.4(WDR35):c.*1038C>G
|
rs145549829
|
0.00003
|
NM_020779.4(WDR35):c.*1218C>T
|
rs990547735
|
0.00003
|
NM_020779.4(WDR35):c.*1821A>G
|
rs978221263
|
0.00003
|
NM_020779.4(WDR35):c.1260A>G (p.Pro420=)
|
rs573958749
|
0.00003
|
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys)
|
rs549077153
|
0.00003
|
NM_020779.4(WDR35):c.2984G>T (p.Gly995Val)
|
rs376284452
|
0.00003
|
NM_020779.4(WDR35):c.766G>A (p.Val256Ile)
|
rs745580829
|
0.00003
|
NM_022336.4(EDAR):c.674C>T (p.Pro225Leu)
|
rs376622302
|
0.00003
|
NM_025099.6(CTC1):c.*1286A>G
|
rs886053601
|
0.00003
|
NM_025099.6(CTC1):c.*1438C>G
|
rs141383858
|
0.00003
|
NM_025099.6(CTC1):c.*1852G>A
|
rs559541027
|
0.00003
|
NM_025099.6(CTC1):c.*445A>T
|
rs977398110
|
0.00003
|
NM_025099.6(CTC1):c.2012C>G (p.Ser671Cys)
|
rs764799661
|
0.00003
|
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=)
|
rs760547081
|
0.00003
|
NM_025132.4(WDR19):c.*131C>T
|
rs886059404
|
0.00003
|
NM_025132.4(WDR19):c.2087G>A (p.Arg696His)
|
rs747881116
|
0.00003
|
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=)
|
rs769329045
|
0.00003
|
NM_025132.4(WDR19):c.523-3T>C
|
rs747603843
|
0.00003
|
NM_025132.4(WDR19):c.778C>T (p.His260Tyr)
|
rs754678482
|
0.00003
|
NM_025216.3(WNT10A):c.*115C>T
|
rs886055646
|
0.00003
|
NM_052989.3(IFT122):c.*16C>T
|
rs763993447
|
0.00003
|
NM_052989.3(IFT122):c.2389G>A (p.Ala797Thr)
|
rs376362722
|
0.00003
|
NM_052989.3(IFT122):c.2840G>A (p.Arg947His)
|
rs760810819
|
0.00003
|
NM_145861.4(EDARADD):c.*2008G>A
|
rs184215335
|
0.00003
|
NM_147127.5(EVC2):c.221G>A (p.Ser74Asn)
|
rs1191013607
|
0.00003
|
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp)
|
rs776830520
|
0.00003
|
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val)
|
rs376048508
|
0.00003
|
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn)
|
rs746187559
|
0.00003
|
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg)
|
rs748417016
|
0.00003
|
NM_147127.5(EVC2):c.3757G>A (p.Ala1253Thr)
|
rs745540572
|
0.00003
|
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys)
|
rs773218631
|
0.00003
|
NM_153717.3(EVC):c.*1071G>C
|
rs1397822380
|
0.00003
|
NM_153717.3(EVC):c.*1981A>G
|
rs886059516
|
0.00003
|
NM_153717.3(EVC):c.*542C>T
|
rs1168888994
|
0.00003
|
NM_153717.3(EVC):c.1722C>T (p.Arg574=)
|
rs144637923
|
0.00003
|
NM_153717.3(EVC):c.1956C>T (p.Arg652=)
|
rs535012160
|
0.00003
|
NM_153717.3(EVC):c.625G>A (p.Val209Ile)
|
rs202026284
|
0.00003
|
NM_153717.3(EVC):c.920C>G (p.Ser307Cys)
|
rs372548610
|
0.00003
|
NM_198253.3(TERT):c.*104C>T
|
rs886059830
|
0.00003
|
NM_198253.3(TERT):c.834C>A (p.Pro278=)
|
rs375423906
|
0.00003
|
NM_198253.3(TERT):c.968C>G (p.Pro323Arg)
|
rs139342764
|
0.00003
|
NM_000165.5(GJA1):c.-197T>G
|
rs1387189062
|
0.00002
|
NM_000165.5(GJA1):c.-87C>T
|
rs1263521795
|
0.00002
|
NM_001005337.3(PKP1):c.1237C>A (p.Leu413Met)
|
rs370631788
|
0.00002
|
NM_001005337.3(PKP1):c.750T>C (p.Ala250=)
|
rs201749145
|
0.00002
|
NM_001005337.3(PKP1):c.945G>A (p.Val315=)
|
rs200097129
|
0.00002
|
NM_001110219.3(GJB6):c.109G>A (p.Val37Met)
|
rs761985641
|
0.00002
|
NM_001110219.3(GJB6):c.619G>A (p.Val207Met)
|
rs146231737
|
0.00002
|
NM_001110219.3(GJB6):c.666A>G (p.Ser222=)
|
rs138571061
|
0.00002
|
NM_001143992.2(WRAP53):c.643-4A>G
|
rs770005848
|
0.00002
|
NM_001143992.2(WRAP53):c.956-14C>T
|
rs1484627654
|
0.00002
|
NM_001793.5(CDH3):c.-302C>T
|
rs145687049
|
0.00002
|
NM_001793.6(CDH3):c.*2C>T
|
rs777390548
|
0.00002
|
NM_001793.6(CDH3):c.*529G>A
|
rs886052235
|
0.00002
|
NM_001793.6(CDH3):c.*535G>A
|
rs955104733
|
0.00002
|
NM_001793.6(CDH3):c.1571-7C>G
|
rs373529822
|
0.00002
|
NM_001793.6(CDH3):c.1652G>A (p.Arg551His)
|
rs779413254
|
0.00002
|
NM_001793.6(CDH3):c.166A>G (p.Met56Val)
|
rs886052228
|
0.00002
|
NM_001793.6(CDH3):c.691G>C (p.Gly231Arg)
|
rs886052230
|
0.00002
|
NM_001793.6(CDH3):c.854G>T (p.Gly285Val)
|
rs753255861
|
0.00002
|
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr)
|
rs748729285
|
0.00002
|
NM_002855.5(NECTIN1):c.*1241T>A
|
rs963747375
|
0.00002
|
NM_002855.5(NECTIN1):c.*2355C>T
|
rs1456398872
|
0.00002
|
NM_002855.5(NECTIN1):c.*2882G>A
|
rs1200712188
|
0.00002
|
NM_002855.5(NECTIN1):c.1422C>T (p.Ala474=)
|
rs763407766
|
0.00002
|
NM_004278.4(PIGL):c.420C>T (p.Ile140=)
|
rs374713933
|
0.00002
|
NM_004278.4(PIGL):c.724C>T (p.Arg242Trp)
|
rs377632512
|
0.00002
|
NM_020639.3(RIPK4):c.*1447A>C
|
rs1356634807
|
0.00002
|
NM_020639.3(RIPK4):c.1195+8G>C
|
rs750525932
|
0.00002
|
NM_020639.3(RIPK4):c.1453G>A (p.Gly485Ser)
|
rs376154775
|
0.00002
|
NM_020639.3(RIPK4):c.1530T>C (p.Phe510=)
|
rs761959722
|
0.00002
|
NM_020639.3(RIPK4):c.1995C>T (p.Ala665=)
|
rs758168721
|
0.00002
|
NM_020639.3(RIPK4):c.302C>T (p.Thr101Met)
|
rs778210206
|
0.00002
|
NM_020639.3(RIPK4):c.779G>A (p.Arg260His)
|
rs549925444
|
0.00002
|
NM_020779.4(WDR35):c.*297A>G
|
rs886891593
|
0.00002
|
NM_020779.4(WDR35):c.*305T>C
|
rs1404107870
|
0.00002
|
NM_020779.4(WDR35):c.2107A>G (p.Thr703Ala)
|
rs886055405
|
0.00002
|
NM_022336.4(EDAR):c.*1435G>A
|
rs1193003358
|
0.00002
|
NM_022336.4(EDAR):c.802A>T (p.Ser268Cys)
|
rs770872155
|
0.00002
|
NM_024589.2(ROGDI):c.-74A>C
|
rs886052039
|
0.00002
|
NM_025099.6(CTC1):c.*1553C>T
|
rs986375644
|
0.00002
|
NM_025099.6(CTC1):c.*2685C>T
|
rs886053588
|
0.00002
|
NM_025099.6(CTC1):c.*642A>G
|
rs1282456436
|
0.00002
|
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn)
|
rs754090012
|
0.00002
|
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser)
|
rs373875495
|
0.00002
|
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu)
|
rs766537691
|
0.00002
|
NM_025099.6(CTC1):c.738C>G (p.Ile246Met)
|
rs1463129527
|
0.00002
|
NM_025132.4(WDR19):c.*296T>G
|
rs542204770
|
0.00002
|
NM_025132.4(WDR19):c.128G>A (p.Arg43His)
|
rs770312522
|
0.00002
|
NM_025132.4(WDR19):c.13+14C>T
|
rs758352852
|
0.00002
|
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=)
|
rs761990492
|
0.00002
|
NM_025132.4(WDR19):c.3483+11T>C
|
rs766475725
|
0.00002
|
NM_025132.4(WDR19):c.822T>C (p.His274=)
|
rs750215526
|
0.00002
|
NM_025216.2(WNT10A):c.-285C>T
|
rs886055636
|
0.00002
|
NM_025216.3(WNT10A):c.*15C>T
|
rs886055645
|
0.00002
|
NM_025216.3(WNT10A):c.377-11T>C
|
rs369995297
|
0.00002
|
NM_025216.3(WNT10A):c.694C>T (p.Arg232Trp)
|
rs193098360
|
0.00002
|
NM_052989.3(IFT122):c.2393G>A (p.Arg798His)
|
rs755677495
|
0.00002
|
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys)
|
rs773080594
|
0.00002
|
NM_052989.3(IFT122):c.3154-9G>A
|
rs759975764
|
0.00002
|
NM_052989.3(IFT122):c.3252C>T (p.Ser1084=)
|
rs775568842
|
0.00002
|
NM_145861.4(EDARADD):c.*1985A>G
|
rs774501424
|
0.00002
|
NM_145861.4(EDARADD):c.*921G>A
|
rs886046192
|
0.00002
|
NM_147127.5(EVC2):c.1083C>T (p.Asn361=)
|
rs142231129
|
0.00002
|
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp)
|
rs368371226
|
0.00002
|
NM_147127.5(EVC2):c.2667C>T (p.Phe889=)
|
rs201173415
|
0.00002
|
NM_147127.5(EVC2):c.2707-9C>G
|
rs772234395
|
0.00002
|
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln)
|
rs767317898
|
0.00002
|
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp)
|
rs139610006
|
0.00002
|
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr)
|
rs747562782
|
0.00002
|
NM_153717.3(EVC):c.*2465C>T
|
rs555611922
|
0.00002
|
NM_153717.3(EVC):c.*869A>G
|
rs79612644
|
0.00002
|
NM_153717.3(EVC):c.1074C>T (p.Cys358=)
|
rs921573510
|
0.00002
|
NM_153717.3(EVC):c.409C>A (p.Pro137Thr)
|
rs752906200
|
0.00002
|
NM_198253.3(TERT):c.*64G>A
|
rs1327773385
|
0.00002
|
NM_198253.3(TERT):c.2886C>T (p.Arg962=)
|
rs542440625
|
0.00002
|
NM_000165.5(GJA1):c.*538G>A
|
rs886061014
|
0.00001
|
NM_000165.5(GJA1):c.*635C>T
|
rs886061015
|
0.00001
|
NM_000165.5(GJA1):c.*916_*918del
|
rs886061018
|
0.00001
|
NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn)
|
rs772121642
|
0.00001
|
NM_000165.5(GJA1):c.483C>G (p.Phe161Leu)
|
rs750243405
|
0.00001
|
NM_000165.5(GJA1):c.712G>T (p.Asp238Tyr)
|
rs143026885
|
0.00001
|
NM_000165.5(GJA1):c.860A>G (p.Lys287Arg)
|
rs555927773
|
0.00001
|
NM_001005337.3(PKP1):c.*2543C>A
|
rs140498940
|
0.00001
|
NM_001005337.3(PKP1):c.*2859G>A
|
rs886045827
|
0.00001
|
NM_001005337.3(PKP1):c.*329C>T
|
rs886045817
|
0.00001
|
NM_001005337.3(PKP1):c.*417G>A
|
rs566048359
|
0.00001
|
NM_001005337.3(PKP1):c.*63G>C
|
rs886045813
|
0.00001
|
NM_001005337.3(PKP1):c.*933A>G
|
rs1454840941
|
0.00001
|
NM_001005337.3(PKP1):c.1014G>A (p.Leu338=)
|
rs886045811
|
0.00001
|
NM_001005337.3(PKP1):c.1859C>T (p.Thr620Ile)
|
rs777930312
|
0.00001
|
NM_001005337.3(PKP1):c.1934G>A (p.Arg645Lys)
|
rs757610907
|
0.00001
|
NM_001005337.3(PKP1):c.378G>C (p.Trp126Cys)
|
rs886045808
|
0.00001
|
NM_001099274.3(TINF2):c.622T>C (p.Ser208Pro)
|
rs377436580
|
0.00001
|
NM_001102564.3(IFT43):c.214_215+2del
|
rs777112610
|
0.00001
|
NM_001110219.3(GJB6):c.*559C>T
|
rs886050029
|
0.00001
|
NM_001110219.3(GJB6):c.-26A>G
|
rs886050030
|
0.00001
|
NM_001110219.3(GJB6):c.-296+283T>C
|
rs886050037
|
0.00001
|
NM_001110219.3(GJB6):c.-3G>A
|
rs372835743
|
0.00001
|
NM_001110219.3(GJB6):c.393G>A (p.Ser131=)
|
rs200353369
|
0.00001
|
NM_001143992.2(WRAP53):c.106G>A (p.Ala36Thr)
|
rs1162035408
|
0.00001
|
NM_001143992.2(WRAP53):c.1448G>A (p.Arg483His)
|
rs199522817
|
0.00001
|
NM_001143992.2(WRAP53):c.432-15C>G
|
rs771063284
|
0.00001
|
NM_001143992.2(WRAP53):c.822+10G>A
|
rs372606750
|
0.00001
|
NM_001143992.2(WRAP53):c.860C>T (p.Pro287Leu)
|
rs375280065
|
0.00001
|
NM_001793.5(CDH3):c.-282G>T
|
rs886052226
|
0.00001
|
NM_001793.6(CDH3):c.1050G>A (p.Thr350=)
|
rs551272419
|
0.00001
|
NM_001793.6(CDH3):c.1119C>T (p.Asp373=)
|
rs995548981
|
0.00001
|
NM_001793.6(CDH3):c.1284G>A (p.Val428=)
|
rs911987634
|
0.00001
|
NM_001793.6(CDH3):c.1848C>T (p.Asp616=)
|
rs768811436
|
0.00001
|
NM_001793.6(CDH3):c.1932C>T (p.Val644=)
|
rs750805163
|
0.00001
|
NM_001793.6(CDH3):c.2061C>T (p.Leu687=)
|
rs1567457224
|
0.00001
|
NM_001793.6(CDH3):c.2340C>T (p.Phe780=)
|
rs1425381774
|
0.00001
|
NM_001793.6(CDH3):c.2444G>A (p.Arg815His)
|
rs557740168
|
0.00001
|
NM_001793.6(CDH3):c.324T>C (p.Asp108=)
|
rs780231573
|
0.00001
|
NM_001793.6(CDH3):c.46-11C>T
|
rs1191322448
|
0.00001
|
NM_001793.6(CDH3):c.820C>T (p.Arg274Trp)
|
rs199812197
|
0.00001
|
NM_001793.6(CDH3):c.886C>G (p.Leu296Val)
|
rs565345878
|
0.00001
|
NM_001814.6(CTSC):c.1097A>T (p.His366Leu)
|
rs751798574
|
0.00001
|
NM_001814.6(CTSC):c.12G>A (p.Gly4=)
|
rs755959403
|
0.00001
|
NM_001814.6(CTSC):c.1A>G (p.Met1Val)
|
rs886048742
|
0.00001
|
NM_001814.6(CTSC):c.318+4A>G
|
rs781383788
|
0.00001
|
NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys)
|
rs763656343
|
0.00001
|
NM_001814.6(CTSC):c.642-15A>G
|
rs748280232
|
0.00001
|
NM_001814.6(CTSC):c.81T>G (p.Pro27=)
|
rs1370319468
|
0.00001
|
NM_002855.5(NECTIN1):c.*1168C>T
|
rs572202348
|
0.00001
|
NM_002855.5(NECTIN1):c.*1422G>A
|
rs973497387
|
0.00001
|
NM_002855.5(NECTIN1):c.*3185C>T
|
rs778138067
|
0.00001
|
NM_002855.5(NECTIN1):c.*3294G>T
|
rs560856416
|
0.00001
|
NM_002855.5(NECTIN1):c.*3426C>T
|
rs908923186
|
0.00001
|
NM_002855.5(NECTIN1):c.*3634T>C
|
rs1460034515
|
0.00001
|
NM_002855.5(NECTIN1):c.*438C>T
|
rs760416313
|
0.00001
|
NM_002855.5(NECTIN1):c.-50C>G
|
rs1410948549
|
0.00001
|
NM_002855.5(NECTIN1):c.1438G>A (p.Gly480Ser)
|
rs147334676
|
0.00001
|
NM_004004.6(GJB2):c.*550A>G
|
rs1959051090
|
0.00001
|
NM_004004.6(GJB2):c.*679T>C
|
rs1006432105
|
0.00001
|
NM_004004.6(GJB2):c.*979A>G
|
rs546826225
|
0.00001
|
NM_004004.6(GJB2):c.174A>G (p.Pro58=)
|
rs778922005
|
0.00001
|
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
|
rs104894403
|
0.00001
|
NM_004004.6(GJB2):c.557C>T (p.Thr186Met)
|
rs753674300
|
0.00001
|
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)
|
rs749693224
|
0.00001
|
NM_004278.4(PIGL):c.*318C>A
|
rs146448001
|
0.00001
|
NM_004278.4(PIGL):c.130C>T (p.Leu44=)
|
rs776742163
|
0.00001
|
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)
|
rs763355815
|
0.00001
|
NM_018648.4(NOP10):c.*108T>C
|
rs1890481506
|
0.00001
|
NM_020639.3(RIPK4):c.*1376C>T
|
rs938071196
|
0.00001
|
NM_020639.3(RIPK4):c.*142G>A
|
rs886057086
|
0.00001
|
NM_020639.3(RIPK4):c.*298A>G
|
rs1325503303
|
0.00001
|
NM_020639.3(RIPK4):c.*729C>T
|
rs886057084
|
0.00001
|
NM_020639.3(RIPK4):c.*72C>T
|
rs1193530619
|
0.00001
|
NM_020639.3(RIPK4):c.*824C>T
|
rs1413927849
|
0.00001
|
NM_020639.3(RIPK4):c.1106A>G (p.Lys369Arg)
|
rs377595424
|
0.00001
|
NM_020639.3(RIPK4):c.1477C>T (p.Arg493Trp)
|
rs745574177
|
0.00001
|
NM_020639.3(RIPK4):c.2001C>G (p.Thr667=)
|
rs759122850
|
0.00001
|
NM_020639.3(RIPK4):c.271C>A (p.Pro91Thr)
|
rs886057089
|
0.00001
|
NM_020639.3(RIPK4):c.377C>T (p.Ala126Val)
|
rs773242499
|
0.00001
|
NM_020639.3(RIPK4):c.899A>T (p.Asp300Val)
|
rs1479686520
|
0.00001
|
NM_020779.4(WDR35):c.*2228C>T
|
rs1669828408
|
0.00001
|
NM_020779.4(WDR35):c.*2288C>T
|
rs886055398
|
0.00001
|
NM_020779.4(WDR35):c.*2725G>T
|
rs886055396
|
0.00001
|
NM_020779.4(WDR35):c.*2726A>G
|
rs886055395
|
0.00001
|
NM_020779.4(WDR35):c.*2748G>T
|
rs886055394
|
0.00001
|
NM_020779.4(WDR35):c.*380G>A
|
rs886055401
|
0.00001
|
NM_020779.4(WDR35):c.*747C>T
|
rs1451842817
|
0.00001
|
NM_020779.4(WDR35):c.1348A>C (p.Thr450Pro)
|
rs771656961
|
0.00001
|
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser)
|
rs139252416
|
0.00001
|
NM_020779.4(WDR35):c.2165G>A (p.Arg722His)
|
rs758991146
|
0.00001
|
NM_020779.4(WDR35):c.2194A>C (p.Lys732Gln)
|
rs748476979
|
0.00001
|
NM_020779.4(WDR35):c.2220C>T (p.Phe740=)
|
rs535522970
|
0.00001
|
NM_020779.4(WDR35):c.2267+9T>C
|
rs376307803
|
0.00001
|
NM_020779.4(WDR35):c.2268-11T>G
|
rs745664606
|
0.00001
|
NM_020779.4(WDR35):c.2298G>A (p.Leu766=)
|
rs1287745296
|
0.00001
|
NM_020779.4(WDR35):c.847G>A (p.Val283Met)
|
rs576085633
|
0.00001
|
NM_020779.4(WDR35):c.976A>G (p.Ile326Val)
|
rs1438742194
|
0.00001
|
NM_022336.4(EDAR):c.*1298G>C
|
rs1696567664
|
0.00001
|
NM_022336.4(EDAR):c.*1703G>A
|
rs1459775112
|
0.00001
|
NM_022336.4(EDAR):c.*1761G>A
|
rs886054737
|
0.00001
|
NM_022336.4(EDAR):c.*242T>C
|
rs1398672274
|
0.00001
|
NM_022336.4(EDAR):c.*602T>A
|
rs886054742
|
0.00001
|
NM_022336.4(EDAR):c.-71C>G
|
rs1207037322
|
0.00001
|
NM_022336.4(EDAR):c.108C>G (p.Tyr36Ter)
|
rs758536902
|
0.00001
|
NM_022336.4(EDAR):c.186C>T (p.Tyr62=)
|
rs751600128
|
0.00001
|
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg)
|
rs121908451
|
0.00001
|
NM_022336.4(EDAR):c.560C>T (p.Ala187Val)
|
rs1411472080
|
0.00001
|
NM_022336.4(EDAR):c.606C>T (p.Ile202=)
|
rs201950451
|
0.00001
|
NM_024589.3(ROGDI):c.*208G>A
|
rs2082661454
|
0.00001
|
NM_024589.3(ROGDI):c.*246G>A
|
rs1039786573
|
0.00001
|
NM_024589.3(ROGDI):c.*451C>G
|
rs886052034
|
0.00001
|
NM_024589.3(ROGDI):c.391G>C (p.Asp131His)
|
rs1235377184
|
0.00001
|
NM_024589.3(ROGDI):c.507C>T (p.Pro169=)
|
rs767771299
|
0.00001
|
NM_024589.3(ROGDI):c.753C>T (p.Ile251=)
|
rs144581570
|
0.00001
|
NM_025099.6(CTC1):c.*1061C>T
|
rs1240025210
|
0.00001
|
NM_025099.6(CTC1):c.*1204T>C
|
rs886053602
|
0.00001
|
NM_025099.6(CTC1):c.*1565A>G
|
rs886053598
|
0.00001
|
NM_025099.6(CTC1):c.*1578T>A
|
rs535373058
|
0.00001
|
NM_025099.6(CTC1):c.*1939G>A
|
rs886053593
|
0.00001
|
NM_025099.6(CTC1):c.*1994A>G
|
rs897034375
|
0.00001
|
NM_025099.6(CTC1):c.*2337G>A
|
rs1311396995
|
0.00001
|
NM_025099.6(CTC1):c.*286G>A
|
rs886053606
|
0.00001
|
NM_025099.6(CTC1):c.*305G>A
|
rs1161700028
|
0.00001
|
NM_025099.6(CTC1):c.*384G>A
|
rs912438390
|
0.00001
|
NM_025099.6(CTC1):c.*509C>T
|
rs758527781
|
0.00001
|
NM_025099.6(CTC1):c.*759A>G
|
rs1986820804
|
0.00001
|
NM_025099.6(CTC1):c.1117T>C (p.Tyr373His)
|
rs1200884099
|
0.00001
|
NM_025099.6(CTC1):c.1500C>T (p.Pro500=)
|
rs761750183
|
0.00001
|
NM_025099.6(CTC1):c.1548G>A (p.Pro516=)
|
rs781000475
|
0.00001
|
NM_025099.6(CTC1):c.1819-14T>G
|
rs753627056
|
0.00001
|
NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp)
|
rs1427706121
|
0.00001
|
NM_025099.6(CTC1):c.2416C>T (p.Arg806Cys)
|
rs758151645
|
0.00001
|
NM_025099.6(CTC1):c.2439G>A (p.Pro813=)
|
rs200759730
|
0.00001
|
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala)
|
rs777357385
|
0.00001
|
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu)
|
rs542910040
|
0.00001
|
NM_025099.6(CTC1):c.780C>T (p.Ser260=)
|
rs769988270
|
0.00001
|
NM_025099.6(CTC1):c.917G>A (p.Arg306His)
|
rs567779457
|
0.00001
|
NM_025132.4(WDR19):c.1248T>C (p.Asn416=)
|
rs772867899
|
0.00001
|
NM_025132.4(WDR19):c.1932G>A (p.Thr644=)
|
rs886059398
|
0.00001
|
NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr)
|
rs1024499799
|
0.00001
|
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser)
|
rs759424617
|
0.00001
|
NM_025132.4(WDR19):c.935T>C (p.Ile312Thr)
|
rs886059396
|
0.00001
|
NM_025216.2(WNT10A):c.-153G>A
|
rs886055640
|
0.00001
|
NM_025216.3(WNT10A):c.*238C>T
|
rs1176499706
|
0.00001
|
NM_025216.3(WNT10A):c.-70G>C
|
rs1042922024
|
0.00001
|
NM_025216.3(WNT10A):c.1061C>T (p.Ser354Leu)
|
rs781178898
|
0.00001
|
NM_025216.3(WNT10A):c.443C>T (p.Ala148Val)
|
rs373695499
|
0.00001
|
NM_025216.3(WNT10A):c.526C>T (p.Arg176Cys)
|
rs754010310
|
0.00001
|
NM_025216.3(WNT10A):c.652A>G (p.Met218Val)
|
rs373991357
|
0.00001
|
NM_025216.3(WNT10A):c.697G>A (p.Glu233Lys)
|
rs121908118
|
0.00001
|
NM_025216.3(WNT10A):c.838A>T (p.Thr280Ser)
|
rs886055643
|
0.00001
|
NM_033360.4(KRAS):c.*1777A>G
|
rs886049193
|
0.00001
|
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln)
|
rs140911243
|
0.00001
|
NM_052989.3(IFT122):c.2055G>T (p.Lys685Asn)
|
rs779236550
|
0.00001
|
NM_052989.3(IFT122):c.2138A>G (p.Tyr713Cys)
|
rs1332128088
|
0.00001
|
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys)
|
rs774343448
|
0.00001
|
NM_052989.3(IFT122):c.3268G>A (p.Val1090Met)
|
rs147517019
|
0.00001
|
NM_052989.3(IFT122):c.3446C>T (p.Pro1149Leu)
|
rs373326394
|
0.00001
|
NM_145861.4(EDARADD):c.*12T>C
|
rs568663942
|
0.00001
|
NM_145861.4(EDARADD):c.*1535C>T
|
rs202115969
|
0.00001
|
NM_145861.4(EDARADD):c.*1809C>T
|
rs878900513
|
0.00001
|
NM_145861.4(EDARADD):c.*1871C>T
|
rs886046197
|
0.00001
|
NM_145861.4(EDARADD):c.*719C>T
|
rs188977509
|
0.00001
|
NM_145861.4(EDARADD):c.*920C>T
|
rs1242190032
|
0.00001
|
NM_145861.4(EDARADD):c.121-6C>G
|
rs1476912628
|
0.00001
|
NM_145861.4(EDARADD):c.587G>A (p.Arg196His)
|
rs483352767
|
0.00001
|
NM_147127.5(EVC2):c.*68T>C
|
rs886059470
|
0.00001
|
NM_147127.5(EVC2):c.1346G>A (p.Arg449Gln)
|
rs774976776
|
0.00001
|
NM_147127.5(EVC2):c.1702A>G (p.Lys568Glu)
|
rs769178878
|
0.00001
|
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln)
|
rs773470850
|
0.00001
|
NM_147127.5(EVC2):c.1998G>A (p.Lys666=)
|
rs201835379
|
0.00001
|
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys)
|
rs779884599
|
0.00001
|
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=)
|
rs762696562
|
0.00001
|
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys)
|
rs763433901
|
0.00001
|
NM_147127.5(EVC2):c.451-15T>C
|
rs554022197
|
0.00001
|
NM_147127.5(EVC2):c.706+13C>T
|
rs371526145
|
0.00001
|
NM_147127.5(EVC2):c.737C>G (p.Ala246Gly)
|
rs765973029
|
0.00001
|
NM_153717.3(EVC):c.*1008G>A
|
rs1217574266
|
0.00001
|
NM_153717.3(EVC):c.*1374G>C
|
rs549720489
|
0.00001
|
NM_153717.3(EVC):c.*1446A>G
|
rs754781931
|
0.00001
|
NM_153717.3(EVC):c.*1684A>G
|
rs886059515
|
0.00001
|
NM_153717.3(EVC):c.*2686G>A
|
rs545215581
|
0.00001
|
NM_153717.3(EVC):c.*2922A>C
|
rs886059518
|
0.00001
|
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys)
|
rs146232611
|
0.00001
|
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly)
|
rs764556070
|
0.00001
|
NM_153717.3(EVC):c.1821C>G (p.His607Gln)
|
rs779056864
|
0.00001
|
NM_153717.3(EVC):c.1878C>T (p.Leu626=)
|
rs375743004
|
0.00001
|
NM_153717.3(EVC):c.1942A>G (p.Arg648Gly)
|
rs1418345759
|
0.00001
|
NM_153717.3(EVC):c.1994C>T (p.Ser665Leu)
|
rs375340438
|
0.00001
|
NM_153717.3(EVC):c.2305-5C>G
|
rs760071065
|
0.00001
|
NM_153717.3(EVC):c.2522C>T (p.Ala841Val)
|
rs1378303023
|
0.00001
|
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe)
|
rs370825749
|
0.00001
|
NM_153717.3(EVC):c.364C>T (p.Pro122Ser)
|
rs1407007311
|
0.00001
|
NM_153717.3(EVC):c.388C>T (p.Leu130=)
|
rs886059496
|
0.00001
|
NM_153717.3(EVC):c.581G>A (p.Arg194Gln)
|
rs777256784
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_153717.3(EVC):c.86C>T (p.Ala29Val)
|
rs1314509668
|
0.00001
|
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys)
|
rs1252316234
|
0.00001
|
NM_198253.3(TERT):c.*339T>C
|
rs920370048
|
0.00001
|
NM_198253.3(TERT):c.189G>A (p.Arg63=)
|
rs1554043134
|
0.00001
|
NM_198253.3(TERT):c.1939A>C (p.Arg647=)
|
rs144821759
|
0.00001
|
NM_198253.3(TERT):c.2781A>G (p.Leu927=)
|
rs370292237
|
0.00001
|
NM_198253.3(TERT):c.3101G>A (p.Arg1034His)
|
rs62331332
|
0.00001
|
NM_198253.3(TERT):c.880C>T (p.His294Tyr)
|
rs886059906
|
0.00001
|
NM_000165.5(GJA1):c.*1020_*1021del
|
rs375943953
|
|
NM_000165.5(GJA1):c.*1043T>C
|
rs886061021
|
|
NM_000165.5(GJA1):c.*1101T>C
|
rs886061022
|
|
NM_000165.5(GJA1):c.*1204A>G
|
rs1773943656
|
|
NM_000165.5(GJA1):c.*163G>A
|
rs886061011
|
|
NM_000165.5(GJA1):c.*212A>T
|
rs1408036306
|
|
NM_000165.5(GJA1):c.*301C>T
|
rs72548749
|
|
NM_000165.5(GJA1):c.*47A>G
|
rs886061010
|
|
NM_000165.5(GJA1):c.*529C>G
|
rs886061013
|
|
NM_000165.5(GJA1):c.*694T>C
|
rs886061016
|
|
NM_000165.5(GJA1):c.*750G>A
|
rs1773934302
|
|
NM_000165.5(GJA1):c.*773del
|
rs397698276
|
|
NM_000165.5(GJA1):c.*832C>G
|
rs773394030
|
|
NM_000165.5(GJA1):c.*888C>A
|
rs1329687638
|
|
NM_000165.5(GJA1):c.*992G>A
|
rs903940354
|
|
NM_000165.5(GJA1):c.-188G>T
|
rs886061008
|
|
NM_000165.5(GJA1):c.129A>G (p.Ser43=)
|
rs749135596
|
|
NM_000165.5(GJA1):c.270C>G (p.Leu90=)
|
rs886061009
|
|
NM_000165.5(GJA1):c.886T>C (p.Ser296Pro)
|
rs1773914179
|
|
NM_000165.5(GJA1):c.893G>A (p.Cys298Tyr)
|
rs1773914309
|
|
NM_001005337.2(PKP1):c.-235G>T
|
rs1655631765
|
|
NM_001005337.3(PKP1):c.*1064G>A
|
rs765354486
|
|
NM_001005337.3(PKP1):c.*1132T>A
|
rs1657310525
|
|
NM_001005337.3(PKP1):c.*1197C>T
|
rs540651814
|
|
NM_001005337.3(PKP1):c.*1409C>T
|
rs886045821
|
|
NM_001005337.3(PKP1):c.*1443G>A
|
rs530912477
|
|
NM_001005337.3(PKP1):c.*1516T>C
|
rs886045823
|
|
NM_001005337.3(PKP1):c.*1558C>T
|
rs1657326695
|
|
NM_001005337.3(PKP1):c.*1565C>T
|
rs886045824
|
|
NM_001005337.3(PKP1):c.*1604C>T
|
rs886045825
|
|
NM_001005337.3(PKP1):c.*177del
|
rs886045814
|
|
NM_001005337.3(PKP1):c.*1812G>A
|
rs149146601
|
|
NM_001005337.3(PKP1):c.*222G>A
|
rs7541805
|
|
NM_001005337.3(PKP1):c.*224delinsGG
|
rs1571568145
|
|
NM_001005337.3(PKP1):c.*2408A>G
|
rs1657356104
|
|
NM_001005337.3(PKP1):c.*2501C>T
|
rs1657360723
|
|
NM_001005337.3(PKP1):c.*2568_*2569insA
|
rs139473144
|
|
NM_001005337.3(PKP1):c.*2805C>G
|
rs1657376737
|
|
NM_001005337.3(PKP1):c.*2858C>A
|
rs555268205
|
|
NM_001005337.3(PKP1):c.*349A>G
|
rs886045818
|
|
NM_001005337.3(PKP1):c.*447A>T
|
rs886045819
|
|
NM_001005337.3(PKP1):c.*448T>C
|
rs925402795
|
|
NM_001005337.3(PKP1):c.*644G>A
|
rs886045820
|
|
NM_001005337.3(PKP1):c.*673G>A
|
rs74504311
|
|
NM_001005337.3(PKP1):c.*713T>G
|
rs181019805
|
|
NM_001005337.3(PKP1):c.*741G>A
|
rs1657297949
|
|
NM_001005337.3(PKP1):c.*861A>G
|
rs1657302517
|
|
NM_001005337.3(PKP1):c.-96G>A
|
rs886045807
|
|
NM_001005337.3(PKP1):c.1116G>C (p.Leu372=)
|
rs371461061
|
|
NM_001005337.3(PKP1):c.1326G>T (p.Ala442=)
|
rs200173870
|
|
NM_001005337.3(PKP1):c.1347+7G>A
|
rs1558194110
|
|
NM_001005337.3(PKP1):c.1358A>G (p.Asn453Ser)
|
rs1340478586
|
|
NM_001005337.3(PKP1):c.1438G>A (p.Ala480Thr)
|
rs201459638
|
|
NM_001005337.3(PKP1):c.15G>T (p.Pro5=)
|
rs760122260
|
|
NM_001005337.3(PKP1):c.1615A>G (p.Lys539Glu)
|
rs1657000777
|
|
NM_001005337.3(PKP1):c.1681-1G>A
|
rs1558196067
|
|
NM_001005337.3(PKP1):c.1938C>A (p.Asn646Lys)
|
rs781360485
|
|
NM_001005337.3(PKP1):c.2093G>A (p.Gly698Asp)
|
rs201628992
|
|
NM_001005337.3(PKP1):c.453G>T (p.Lys151Asn)
|
rs149029415
|
|
NM_001005337.3(PKP1):c.790A>C (p.Ile264Leu)
|
rs773235619
|
|
NM_001005337.3(PKP1):c.819C>T (p.Cys273=)
|
rs886045809
|
|
NM_001005337.3(PKP1):c.822C>G (p.Phe274Leu)
|
rs886045810
|
|
NM_001005337.3(PKP1):c.919G>T (p.Ala307Ser)
|
rs142112484
|
|
NM_001005337.3(PKP1):c.995G>A (p.Arg332His)
|
rs781540602
|
|
NM_001006657.1(WDR35):c.*3299C>T
|
rs1669790644
|
|
NM_001099274.3(TINF2):c.*53G>A
|
rs886050429
|
|
NM_001099274.3(TINF2):c.-130A>G
|
rs2040602733
|
|
NM_001099274.3(TINF2):c.-223C>G
|
rs886050434
|
|
NM_001099274.3(TINF2):c.-50A>G
|
rs886050432
|
|
NM_001099274.3(TINF2):c.-93T>C
|
rs886050433
|
|
NM_001099274.3(TINF2):c.1074T>C (p.Asp358=)
|
rs886050430
|
|
NM_001099274.3(TINF2):c.400-5del
|
rs769170035
|
|
NM_001099274.3(TINF2):c.517G>A (p.Val173Met)
|
rs2040569011
|
|
NM_001099274.3(TINF2):c.607T>C (p.Cys203Arg)
|
rs2040562236
|
|
NM_001099274.3(TINF2):c.682C>T (p.His228Tyr)
|
rs886050431
|
|
NM_001110219.3(GJB6):c.*628G>T
|
rs577545882
|
|
NM_001110219.3(GJB6):c.-166A>C
|
rs886050033
|
|
NM_001110219.3(GJB6):c.-178C>T
|
rs886050034
|
|
NM_001110219.3(GJB6):c.-296+265C>T
|
rs886050038
|
|
NM_001110219.3(GJB6):c.311G>A (p.Arg104His)
|
rs549918398
|
|
NM_001110219.3(GJB6):c.742A>G (p.Ile248Val)
|
rs747371119
|
|
NM_001143992.2(WRAP53):c.-1-5T>C
|
rs2074054532
|
|
NM_001143992.2(WRAP53):c.-1-5T>G
|
rs2074054532
|
|
NM_001143992.2(WRAP53):c.-2+2T>C
|
rs886053517
|
|
NM_001143992.2(WRAP53):c.-23C>G
|
rs2074051591
|
|
NM_001143992.2(WRAP53):c.-52C>T
|
rs79199718
|
|
NM_001143992.2(WRAP53):c.1403+6C>T
|
rs886053518
|
|
NM_001143992.2(WRAP53):c.1627G>A (p.Gly543Ser)
|
rs2074304991
|
|
NM_001143992.2(WRAP53):c.18_19del (p.Gln7fs)
|
rs764437508
|
|
NM_001143992.2(WRAP53):c.834G>A (p.Thr278=)
|
rs372166304
|
|
NM_001363.5(DKC1):c.691G>A (p.Val231Met)
|
|
|
NM_001793.4(CDH3):c.-628G>A
|
rs796187375
|
|
NM_001793.4(CDH3):c.-633_-627AAAAAGA[1]
|
rs886052223
|
|
NM_001793.5(CDH3):c.-140G>T
|
rs886052227
|
|
NM_001793.6(CDH3):c.*149G>T
|
rs549357874
|
|
NM_001793.6(CDH3):c.*180G>C
|
rs1961820138
|
|
NM_001793.6(CDH3):c.*523G>A
|
rs1961830575
|
|
NM_001793.6(CDH3):c.*595G>A
|
rs111487714
|
|
NM_001793.6(CDH3):c.*87G>T
|
rs555473968
|
|
NM_001793.6(CDH3):c.100G>A (p.Ala34Thr)
|
rs749754991
|
|
NM_001793.6(CDH3):c.1043G>A (p.Arg348Lys)
|
rs886052231
|
|
NM_001793.6(CDH3):c.1178G>A (p.Arg393Lys)
|
rs766325919
|
|
NM_001793.6(CDH3):c.1183-12C>T
|
rs886052232
|
|
NM_001793.6(CDH3):c.1740G>C (p.Gln580His)
|
rs886052233
|
|
NM_001793.6(CDH3):c.1796-11G>T
|
rs752252704
|
|
NM_001793.6(CDH3):c.1984G>A (p.Ala662Thr)
|
rs372221192
|
|
NM_001793.6(CDH3):c.2070A>G (p.Pro690=)
|
rs886052234
|
|
NM_001793.6(CDH3):c.2251C>A (p.Pro751Thr)
|
rs1961708493
|
|
NM_001793.6(CDH3):c.45+6C>T
|
rs562645181
|
|
NM_001793.6(CDH3):c.651G>C (p.Gln217His)
|
rs1961118084
|
|
NM_001814.6(CTSC):c.*350A>G
|
rs1944265493
|
|
NM_001814.6(CTSC):c.*414A>G
|
rs953848453
|
|
NM_001814.6(CTSC):c.-23C>G
|
rs886048743
|
|
NM_001814.6(CTSC):c.-55C>T
|
|
|
NM_001814.6(CTSC):c.-7C>A
|
rs770352776
|
|
NM_001814.6(CTSC):c.1038C>T (p.His346=)
|
rs1355697311
|
|
NM_001814.6(CTSC):c.1094T>C (p.Val365Ala)
|
rs1197515579
|
|
NM_001814.6(CTSC):c.1103G>A (p.Gly368Glu)
|
rs1944274387
|
|
NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys)
|
rs886048738
|
|
NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys)
|
rs201519830
|
|
NM_001814.6(CTSC):c.173-19dup
|
rs11326739
|
|
NM_001814.6(CTSC):c.173-6del
|
rs372892181
|
|
NM_001814.6(CTSC):c.386T>A (p.Val129Glu)
|
rs760130711
|
|
NM_001814.6(CTSC):c.729C>T (p.Ile243=)
|
rs766063253
|
|
NM_001814.6(CTSC):c.757+6A>T
|
rs886048741
|
|
NM_001814.6(CTSC):c.850A>G (p.Ser284Gly)
|
rs886048740
|
|
NM_001814.6(CTSC):c.954A>G (p.Glu318=)
|
rs886048739
|
|
NM_001854.4(COL11A1):c.-231dup
|
rs886044983
|
|
NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[12]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.3817-14_3817-13dup
|
rs34228277
|
|
NM_001854.4(COL11A1):c.4303-13dup
|
rs35232764
|
|
NM_001854.4(COL11A1):c.4357-16dup
|
rs748850423
|
|
NM_001854.4(COL11A1):c.652-6dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-7_652-6dup
|
rs36076089
|
|
NM_002755.4(MAP2K1):c.*917del
|
rs886051370
|
|
NM_002755.4(MAP2K1):c.*917dup
|
rs886051370
|
|
NM_002755.4(MAP2K1):c.1068+12_1068+15del
|
rs397516788
|
|
NM_002855.5(NECTIN1):c.*1087G>A
|
rs778554225
|
|
NM_002855.5(NECTIN1):c.*1108G>C
|
rs377399603
|
|
NM_002855.5(NECTIN1):c.*1126C>T
|
rs543126843
|
|
NM_002855.5(NECTIN1):c.*1179C>G
|
rs142206052
|
|
NM_002855.5(NECTIN1):c.*1654C>G
|
rs1864696619
|
|
NM_002855.5(NECTIN1):c.*165G>T
|
rs574144297
|
|
NM_002855.5(NECTIN1):c.*1760C>G
|
rs1864692767
|
|
NM_002855.5(NECTIN1):c.*2692C>G
|
rs1864675866
|
|
NM_002855.5(NECTIN1):c.*269C>T
|
rs138302957
|
|
NM_002855.5(NECTIN1):c.*2733T>C
|
rs79306256
|
|
NM_002855.5(NECTIN1):c.*2750C>T
|
rs1433590018
|
|
NM_002855.5(NECTIN1):c.*2852T>G
|
rs1864673248
|
|
NM_002855.5(NECTIN1):c.*2902A>C
|
rs372246353
|
|
NM_002855.5(NECTIN1):c.*3087C>G
|
rs575574028
|
|
NM_002855.5(NECTIN1):c.*3174C>A
|
rs1864665824
|
|
NM_002855.5(NECTIN1):c.*3351G>A
|
rs1051657215
|
|
NM_002855.5(NECTIN1):c.*3405A>C
|
rs1864660056
|
|
NM_002855.5(NECTIN1):c.*3647G>T
|
rs967644002
|
|
NM_002855.5(NECTIN1):c.*46T>C
|
rs1025182829
|
|
NM_002855.5(NECTIN1):c.*51G>C
|
rs992478322
|
|
NM_002855.5(NECTIN1):c.*53A>C
|
rs1204545098
|
|
NM_002855.5(NECTIN1):c.*554G>A
|
rs369160682
|
|
NM_002855.5(NECTIN1):c.*72C>G
|
rs59612995
|
|
NM_002855.5(NECTIN1):c.*780G>T
|
rs115196807
|
|
NM_002855.5(NECTIN1):c.*883T>G
|
rs918038363
|
|
NM_002855.5(NECTIN1):c.*917G>T
|
rs979562618
|
|
NM_002855.5(NECTIN1):c.*961G>A
|
rs567953400
|
|
NM_002855.5(NECTIN1):c.-102C>A
|
rs868396650
|
|
NM_002855.5(NECTIN1):c.-146A>C
|
rs1040977053
|
|
NM_002855.5(NECTIN1):c.-151A>C
|
rs900655328
|
|
NM_002855.5(NECTIN1):c.1019C>A (p.Pro340Gln)
|
rs375956459
|
|
NM_002855.5(NECTIN1):c.1078G>A (p.Val360Met)
|
rs758801522
|
|
NM_002855.5(NECTIN1):c.1347C>T (p.Gly449=)
|
rs116441631
|
|
NM_002855.5(NECTIN1):c.1380T>C (p.Tyr460=)
|
rs1864734746
|
|
NM_002855.5(NECTIN1):c.3G>A (p.Met1Ile)
|
rs1865957091
|
|
NM_002855.5(NECTIN1):c.42G>C (p.Trp14Cys)
|
rs1591494857
|
|
NM_002855.5(NECTIN1):c.444T>C (p.Asn148=)
|
rs1864986117
|
|
NM_004004.6(GJB2):c.*1206T>G
|
rs886050026
|
|
NM_004004.6(GJB2):c.*1291_*1294del
|
rs886050025
|
|
NM_004004.6(GJB2):c.*385G>C
|
rs1959052059
|
|
NM_004004.6(GJB2):c.*412A>C
|
rs547859391
|
|
NM_004004.6(GJB2):c.*482A>G
|
rs886050028
|
|
NM_004004.6(GJB2):c.*52C>T
|
rs1959054328
|
|
NM_004004.6(GJB2):c.*544T>C
|
rs564755659
|
|
NM_004004.6(GJB2):c.-170C>G
|
rs1006263046
|
|
NM_004278.4(PIGL):c.*185A>C
|
rs886052644
|
|
NM_004278.4(PIGL):c.258_259del (p.Glu86fs)
|
rs763616470
|
|
NM_004278.4(PIGL):c.398A>G (p.Gln133Arg)
|
rs749202572
|
|
NM_004278.4(PIGL):c.535G>T (p.Val179Leu)
|
rs116591352
|
|
NM_004333.6(BRAF):c.2128-16_2128-15del
|
rs886062015
|
|
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT
|
rs886062016
|
|
NM_004333.6(BRAF):c.2128-28dup
|
rs60814637
|
|
NM_004333.6(BRAF):c.2128-4del
|
rs886062014
|
|
NM_004333.6(BRAF):c.2128-5dup
|
rs373442098
|
|
NM_004415.3(DSP):c.-260A>G
|
rs886061738
|
|
NM_004415.4(DSP):c.*300C>A
|
rs886061750
|
|
NM_004415.4(DSP):c.*305C>A
|
rs886061751
|
|
NM_004415.4(DSP):c.*384C>A
|
rs886061753
|
|
NM_004415.4(DSP):c.*386G>T
|
rs886061754
|
|
NM_004415.4(DSP):c.*598G>T
|
rs886061756
|
|
NM_004415.4(DSP):c.*681C>A
|
rs886061757
|
|
NM_004415.4(DSP):c.-179T>C
|
rs886061741
|
|
NM_004415.4(DSP):c.-190G>T
|
rs886061740
|
|
NM_004415.4(DSP):c.-228C>A
|
rs886061739
|
|
NM_004415.4(DSP):c.-36C>A
|
rs886061743
|
|
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)
|
rs770105310
|
|
NM_004415.4(DSP):c.4857G>C (p.Leu1619=)
|
rs373385083
|
|
NM_004985.5(KRAS):c.-176CGG[4]
|
rs886049200
|
|
NM_004990.4(MARS1):c.1316_1327dup (p.Pro442_Val443insGlySerCysPro)
|
|
|
NM_004990.4(MARS1):c.1450T>C (p.Ser484Pro)
|
|
|
NM_006978.3(RNF113A):c.860T>C (p.Leu287Pro)
|
rs2147812233
|
|
NM_012461.3(TINF2):c.-316G>A
|
rs886050436
|
|
NM_014112.5(TRPS1):c.*1843del
|
rs886062619
|
|
NM_014112.5(TRPS1):c.*1983_*1984insG
|
rs886062618
|
|
NM_014112.5(TRPS1):c.*2740del
|
rs879823190
|
|
NM_014112.5(TRPS1):c.*3538del
|
rs547899966
|
|
NM_014112.5(TRPS1):c.*4593AAAGG[1]
|
rs755682849
|
|
NM_014112.5(TRPS1):c.*4741del
|
rs886062604
|
|
NM_014112.5(TRPS1):c.*4754_*4761dup
|
rs755990611
|
|
NM_014112.5(TRPS1):c.*4845ATA[1]
|
rs775143556
|
|
NM_014112.5(TRPS1):c.-318CT[13]
|
rs10546472
|
|
NM_014112.5(TRPS1):c.-318CT[9]
|
rs10546472
|
|
NM_014112.5(TRPS1):c.-320_-319del
|
rs199575103
|
|
NM_014112.5(TRPS1):c.-382del
|
rs886062631
|
|
NM_014112.5(TRPS1):c.-393_-392dup
|
rs759303878
|
|
NM_015559.3(SETBP1):c.*1643_*1647del
|
rs370951422
|
|
NM_015559.3(SETBP1):c.*2063_*2066del
|
rs886053806
|
|
NM_015559.3(SETBP1):c.*2970_*2971insT
|
rs886053809
|
|
NM_015559.3(SETBP1):c.*2971del
|
rs886053810
|
|
NM_015559.3(SETBP1):c.*2987dup
|
rs34125334
|
|
NM_015559.3(SETBP1):c.*2988del
|
rs886053812
|
|
NM_015559.3(SETBP1):c.*745dup
|
rs368699262
|
|
NM_015559.3(SETBP1):c.-241dup
|
rs886053786
|
|
NM_015559.3(SETBP1):c.2358C>T (p.Ser786=)
|
rs886053793
|
|
NM_018648.3(NOP10):c.-101C>G
|
rs1890516145
|
|
NM_018648.3(NOP10):c.-88A>G
|
rs1890515011
|
|
NM_018648.4(NOP10):c.*184A>G
|
rs113289404
|
|
NM_018648.4(NOP10):c.*80C>T
|
rs983946861
|
|
NM_018648.4(NOP10):c.-38C>T
|
rs112556317
|
|
NM_018648.4(NOP10):c.6del (p.Leu3fs)
|
rs756134994
|
|
NM_020529.3(NFKBIA):c.*102T>G
|
rs2052729719
|
|
NM_020529.3(NFKBIA):c.*302A>C
|
rs886050475
|
|
NM_020529.3(NFKBIA):c.-42G>T
|
rs1203824461
|
|
NM_020529.3(NFKBIA):c.-73C>A
|
rs1372613093
|
|
NM_020529.3(NFKBIA):c.-80C>T
|
rs886050476
|
|
NM_020529.3(NFKBIA):c.131A>G (p.Gln44Arg)
|
rs2052768045
|
|
NM_020529.3(NFKBIA):c.911C>G (p.Pro304Arg)
|
rs779867290
|
|
NM_020639.3(RIPK4):c.*1151G>A
|
rs948234291
|
|
NM_020639.3(RIPK4):c.*1172T>C
|
rs2061146329
|
|
NM_020639.3(RIPK4):c.*1192A>G
|
rs543933391
|
|
NM_020639.3(RIPK4):c.*1420T>G
|
rs1194984878
|
|
NM_020639.3(RIPK4):c.*161G>A
|
rs536240693
|
|
NM_020639.3(RIPK4):c.*173C>T
|
rs1008340022
|
|
NM_020639.3(RIPK4):c.*201C>T
|
rs886057085
|
|
NM_020639.3(RIPK4):c.*215G>T
|
rs115041500
|
|
NM_020639.3(RIPK4):c.*273A>C
|
rs1052236618
|
|
NM_020639.3(RIPK4):c.*961G>A
|
rs1601672028
|
|
NM_020639.3(RIPK4):c.1079C>T (p.Ser360Phe)
|
rs1470223809
|
|
NM_020639.3(RIPK4):c.1193G>T (p.Ser398Ile)
|
rs201219158
|
|
NM_020639.3(RIPK4):c.1694T>G (p.Leu565Arg)
|
rs2061153760
|
|
NM_020639.3(RIPK4):c.59G>A (p.Gly20Asp)
|
rs2061239545
|
|
NM_020639.3(RIPK4):c.755C>T (p.Pro252Leu)
|
rs770860869
|
|
NM_020779.4(WDR35):c.*1005C>A
|
rs746476400
|
|
NM_020779.4(WDR35):c.*1270C>T
|
rs568999408
|
|
NM_020779.4(WDR35):c.*1461A>C
|
rs886055400
|
|
NM_020779.4(WDR35):c.*1637C>T
|
rs1669848389
|
|
NM_020779.4(WDR35):c.*16T>C
|
rs1669898811
|
|
NM_020779.4(WDR35):c.*1754C>G
|
rs1188052659
|
|
NM_020779.4(WDR35):c.*1934A>G
|
rs886055399
|
|
NM_020779.4(WDR35):c.*1960G>T
|
rs1669835588
|
|
NM_020779.4(WDR35):c.*2029GTCT[1]
|
rs566446459
|
|
NM_020779.4(WDR35):c.*2239G>A
|
rs1042042509
|
|
NM_020779.4(WDR35):c.*2341G>C
|
rs886055397
|
|
NM_020779.4(WDR35):c.*2629T>A
|
rs1001737898
|
|
NM_020779.4(WDR35):c.*271A>G
|
rs994131640
|
|
NM_020779.4(WDR35):c.*2962C>T
|
rs886055393
|
|
NM_020779.4(WDR35):c.*2990G>T
|
rs781556463
|
|
NM_020779.4(WDR35):c.*635C>T
|
rs1669878199
|
|
NM_020779.4(WDR35):c.1231T>G (p.Leu411Val)
|
rs1418266904
|
|
NM_020779.4(WDR35):c.1609C>G (p.Gln537Glu)
|
rs1416766008
|
|
NM_020779.4(WDR35):c.1753G>A (p.Val585Ile)
|
rs748998292
|
|
NM_020779.4(WDR35):c.24+4A>G
|
rs780961583
|
|
NM_020779.4(WDR35):c.2400T>C (p.Ala800=)
|
rs886055404
|
|
NM_020779.4(WDR35):c.2455G>A (p.Glu819Lys)
|
rs768049606
|
|
NM_020779.4(WDR35):c.2492A>G (p.Tyr831Cys)
|
rs886055403
|
|
NM_020779.4(WDR35):c.273A>G (p.Glu91=)
|
rs1558360162
|
|
NM_020779.4(WDR35):c.2956A>G (p.Ser986Gly)
|
rs886055402
|
|
NM_020779.4(WDR35):c.308G>C (p.Gly103Ala)
|
rs886055406
|
|
NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala)
|
rs1669900626
|
|
NM_022336.4(EDAR):c.*1181C>T
|
rs886054741
|
|
NM_022336.4(EDAR):c.*1199C>T
|
rs372575462
|
|
NM_022336.4(EDAR):c.*1226A>C
|
rs886054740
|
|
NM_022336.4(EDAR):c.*1319C>G
|
rs886054739
|
|
NM_022336.4(EDAR):c.*1535C>T
|
rs886054738
|
|
NM_022336.4(EDAR):c.*1563C>T
|
rs1696563393
|
|
NM_022336.4(EDAR):c.*1647C>T
|
rs1696561495
|
|
NM_022336.4(EDAR):c.*2016G>C
|
rs1436268689
|
|
NM_022336.4(EDAR):c.*2376T>C
|
rs1696543184
|
|
NM_022336.4(EDAR):c.*447T>C
|
rs1264182094
|
|
NM_022336.4(EDAR):c.*485C>T
|
rs970440390
|
|
NM_022336.4(EDAR):c.*486G>A
|
rs1386736657
|
|
NM_022336.4(EDAR):c.*546C>T
|
rs1696591208
|
|
NM_022336.4(EDAR):c.*714T>G
|
rs1348733331
|
|
NM_022336.4(EDAR):c.*791A>T
|
rs1696582725
|
|
NM_022336.4(EDAR):c.*867A>G
|
rs967989414
|
|
NM_022336.4(EDAR):c.*976A>G
|
rs142529386
|
|
NM_022336.4(EDAR):c.-129G>T
|
rs886054747
|
|
NM_022336.4(EDAR):c.-235G>A
|
rs886054749
|
|
NM_022336.4(EDAR):c.-30A>C
|
rs886054746
|
|
NM_022336.4(EDAR):c.-4G>A
|
rs886054745
|
|
NM_022336.4(EDAR):c.1029T>C (p.Leu343=)
|
rs1020417678
|
|
NM_022336.4(EDAR):c.1183A>G (p.Met395Val)
|
rs537348349
|
|
NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn)
|
rs886054744
|
|
NM_022336.4(EDAR):c.656-1G>A
|
rs1558802058
|
|
NM_022336.4(EDAR):c.849C>A (p.Ser283Arg)
|
rs145796324
|
|
NM_024589.2(ROGDI):c.-181G>A
|
rs891502822
|
|
NM_024589.2(ROGDI):c.-202delG
|
rs569838251
|
|
NM_024589.2(ROGDI):c.-325G>C
|
rs886052040
|
|
NM_024589.2(ROGDI):c.-342C>A
|
rs886052041
|
|
NM_024589.2(ROGDI):c.-379T>C
|
rs886052042
|
|
NM_024589.2(ROGDI):c.-68G>C
|
rs1167973629
|
|
NM_024589.2(ROGDI):c.-69C>T
|
rs886052038
|
|
NM_024589.2(ROGDI):c.-89G>T
|
rs538342367
|
|
NM_024589.3(ROGDI):c.*112C>T
|
rs886052036
|
|
NM_024589.3(ROGDI):c.*24C>T
|
rs756091670
|
|
NM_024589.3(ROGDI):c.*298G>A
|
rs545854112
|
|
NM_024589.3(ROGDI):c.*355G>T
|
rs886052035
|
|
NM_024589.3(ROGDI):c.117G>T (p.Lys39Asn)
|
rs956797047
|
|
NM_024589.3(ROGDI):c.436A>T (p.Met146Leu)
|
rs886052037
|
|
NM_025099.6(CTC1):c.*1052T>G
|
rs201297846
|
|
NM_025099.6(CTC1):c.*1053T>C
|
rs1158073985
|
|
NM_025099.6(CTC1):c.*1102C>T
|
rs3027249
|
|
NM_025099.6(CTC1):c.*1107A>G
|
rs573286497
|
|
NM_025099.6(CTC1):c.*1134G>A
|
rs754222087
|
|
NM_025099.6(CTC1):c.*1148C>A
|
rs534594967
|
|
NM_025099.6(CTC1):c.*1188C>T
|
rs562025086
|
|
NM_025099.6(CTC1):c.*1191T>A
|
rs540304901
|
|
NM_025099.6(CTC1):c.*1191T>C
|
rs540304901
|
|
NM_025099.6(CTC1):c.*1308T>A
|
rs574820085
|
|
NM_025099.6(CTC1):c.*1420A>T
|
rs533674362
|
|
NM_025099.6(CTC1):c.*1473C>G
|
rs377086928
|
|
NM_025099.6(CTC1):c.*1478C>A
|
rs146427367
|
|
NM_025099.6(CTC1):c.*1479C>T
|
rs796651282
|
|
NM_025099.6(CTC1):c.*1517G>A
|
rs998188449
|
|
NM_025099.6(CTC1):c.*1531T>C
|
rs558571255
|
|
NM_025099.6(CTC1):c.*1542C>G
|
rs886053599
|
|
NM_025099.6(CTC1):c.*1569C>T
|
rs138405975
|
|
NM_025099.6(CTC1):c.*1600T>A
|
rs751150794
|
|
NM_025099.6(CTC1):c.*1603T>A
|
rs763671822
|
|
NM_025099.6(CTC1):c.*1792G>A
|
rs886053595
|
|
NM_025099.6(CTC1):c.*1807G>C
|
rs3027251
|
|
NM_025099.6(CTC1):c.*1844G>C
|
rs3027252
|
|
NM_025099.6(CTC1):c.*1856C>T
|
rs145845338
|
|
NM_025099.6(CTC1):c.*1857C>T
|
rs886053594
|
|
NM_025099.6(CTC1):c.*1867G>A
|
rs961793089
|
|
NM_025099.6(CTC1):c.*1868C>A
|
rs535981109
|
|
NM_025099.6(CTC1):c.*1900C>A
|
rs1567590998
|
|
NM_025099.6(CTC1):c.*1913A>G
|
rs1045049738
|
|
NM_025099.6(CTC1):c.*1933C>T
|
rs752512394
|
|
NM_025099.6(CTC1):c.*2013G>A
|
rs886053590
|
|
NM_025099.6(CTC1):c.*2070G>A
|
rs772156574
|
|
NM_025099.6(CTC1):c.*2090G>A
|
rs1033226989
|
|
NM_025099.6(CTC1):c.*2242G>A
|
rs868833357
|
|
NM_025099.6(CTC1):c.*2425T>C
|
rs1986579685
|
|
NM_025099.6(CTC1):c.*2498G>A
|
rs952734766
|
|
NM_025099.6(CTC1):c.*2536C>T
|
rs1656306673
|
|
NM_025099.6(CTC1):c.*2725T>A
|
rs1986555540
|
|
NM_025099.6(CTC1):c.*274C>T
|
rs533383004
|
|
NM_025099.6(CTC1):c.*2784G>A
|
rs886053587
|
|
NM_025099.6(CTC1):c.*2926G>C
|
rs934312840
|
|
NM_025099.6(CTC1):c.*3198G>T
|
rs568877108
|
|
NM_025099.6(CTC1):c.*429C>T
|
rs1286225682
|
|
NM_025099.6(CTC1):c.*65C>A
|
rs886053608
|
|
NM_025099.6(CTC1):c.*663G>A
|
rs183099496
|
|
NM_025099.6(CTC1):c.*808G>A
|
rs1986816320
|
|
NM_025099.6(CTC1):c.1231T>A (p.Ser411Thr)
|
rs765850921
|
|
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu)
|
rs62624978
|
|
NM_025099.6(CTC1):c.13C>G (p.Arg5Gly)
|
rs201280372
|
|
NM_025099.6(CTC1):c.1440-5C>T
|
rs1987573771
|
|
NM_025099.6(CTC1):c.2060+12G>A
|
rs1987317835
|
|
NM_025099.6(CTC1):c.2253A>G (p.Gly751=)
|
rs1164794062
|
|
NM_025099.6(CTC1):c.2831C>T (p.Pro944Leu)
|
rs1987110819
|
|
NM_025099.6(CTC1):c.3024C>G (p.Pro1008=)
|
rs1987021468
|
|
NM_025099.6(CTC1):c.3104del (p.Phe1035fs)
|
rs1567599198
|
|
NM_025099.6(CTC1):c.3136del (p.Cys1046fs)
|
rs1223080335
|
|
NM_025099.6(CTC1):c.3221+5G>C
|
rs1986987980
|
|
NM_025099.6(CTC1):c.33C>T (p.Ser11=)
|
rs757066174
|
|
NM_025099.6(CTC1):c.556G>C (p.Val186Leu)
|
rs185346402
|
|
NM_025099.6(CTC1):c.8C>T (p.Ala3Val)
|
rs923853643
|
|
NM_025099.6(CTC1):c.917G>T (p.Arg306Leu)
|
rs567779457
|
|
NM_025132.3(WDR19):c.-59dup
|
rs558898928
|
|
NM_025132.4(WDR19):c.*124T>G
|
rs1737119800
|
|
NM_025132.4(WDR19):c.*184T>G
|
rs886059405
|
|
NM_025132.4(WDR19):c.*293_*296dup
|
rs374474677
|
|
NM_025132.4(WDR19):c.*83G>C
|
rs111976533
|
|
NM_025132.4(WDR19):c.1293C>T (p.Ala431=)
|
rs886059397
|
|
NM_025132.4(WDR19):c.171T>C (p.Cys57=)
|
rs1483597668
|
|
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu)
|
rs190192706
|
|
NM_025132.4(WDR19):c.198A>T (p.Gly66=)
|
rs749815295
|
|
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His)
|
rs886059399
|
|
NM_025132.4(WDR19):c.2251G>A (p.Glu751Lys)
|
rs1730954326
|
|
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly)
|
rs886059400
|
|
NM_025132.4(WDR19):c.2430T>G (p.Asp810Glu)
|
rs1375996391
|
|
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe)
|
rs780963454
|
|
NM_025132.4(WDR19):c.2872G>C (p.Ala958Pro)
|
rs1057523257
|
|
NM_025132.4(WDR19):c.3358+15C>T
|
rs750722358
|
|
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val)
|
rs886059401
|
|
NM_025132.4(WDR19):c.3602G>A (p.Cys1201Tyr)
|
rs886059402
|
|
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile)
|
rs886059403
|
|
NM_025132.4(WDR19):c.750A>T (p.Ser250=)
|
rs886059395
|
|
NM_025216.2(WNT10A):c.-194dup
|
rs886055639
|
|
NM_025216.2(WNT10A):c.-202G>C
|
rs886055638
|
|
NM_025216.2(WNT10A):c.-249G>C
|
rs571829301
|
|
NM_025216.2(WNT10A):c.-358G>A
|
rs886055635
|
|
NM_025216.2(WNT10A):c.-370C>A
|
rs886055634
|
|
NM_025216.2(WNT10A):c.-433C>G
|
rs886055633
|
|
NM_025216.3(WNT10A):c.*139C>G
|
rs1944681589
|
|
NM_025216.3(WNT10A):c.*339C>T
|
rs1944683536
|
|
NM_025216.3(WNT10A):c.*441C>T
|
rs886055647
|
|
NM_025216.3(WNT10A):c.1035C>A (p.Phe345Leu)
|
rs1944675395
|
|
NM_025216.3(WNT10A):c.1049C>T (p.Pro350Leu)
|
rs564146190
|
|
NM_025216.3(WNT10A):c.166A>G (p.Asn56Asp)
|
rs992196031
|
|
NM_025216.3(WNT10A):c.315G>C (p.Trp105Cys)
|
rs886055642
|
|
NM_025216.3(WNT10A):c.364A>T (p.Ile122Phe)
|
rs201929547
|
|
NM_025216.3(WNT10A):c.483G>C (p.Ala161=)
|
rs200751156
|
|
NM_025216.3(WNT10A):c.653T>G (p.Met218Arg)
|
rs759559158
|
|
NM_025216.3(WNT10A):c.664G>A (p.Glu222Lys)
|
rs377416834
|
|
NM_025216.3(WNT10A):c.719C>T (p.Ala240Val)
|
rs201578578
|
|
NM_025216.3(WNT10A):c.756+13C>A
|
rs745958462
|
|
NM_025216.3(WNT10A):c.841C>A (p.Pro281Thr)
|
rs541715493
|
|
NM_025216.3(WNT10A):c.841C>G (p.Pro281Ala)
|
rs541715493
|
|
NM_033360.4(KRAS):c.*1967del
|
rs886049191
|
|
NM_033360.4(KRAS):c.*3092_*3095del
|
rs886049184
|
|
NM_033360.4(KRAS):c.*3803_*3804dup
|
rs142323886
|
|
NM_033360.4(KRAS):c.*3875_*3878del
|
rs886049180
|
|
NM_033360.4(KRAS):c.*4187del
|
rs34719539
|
|
NM_033360.4(KRAS):c.*659del
|
rs756307694
|
|
NM_052989.3(IFT122):c.*121G>T
|
rs536919948
|
|
NM_052989.3(IFT122):c.*142C>G
|
rs977256057
|
|
NM_052989.3(IFT122):c.*241C>G
|
rs2084614746
|
|
NM_052989.3(IFT122):c.-22C>A
|
rs551140180
|
|
NM_052989.3(IFT122):c.132C>G (p.Thr44=)
|
rs371772807
|
|
NM_052989.3(IFT122):c.1570G>A (p.Ala524Thr)
|
rs2078655875
|
|
NM_052989.3(IFT122):c.1800C>T (p.Ser600=)
|
rs886057965
|
|
NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn)
|
rs777051654
|
|
NM_052989.3(IFT122):c.199C>A (p.Arg67Ser)
|
rs181971625
|
|
NM_052989.3(IFT122):c.2181C>T (p.Thr727=)
|
rs545131069
|
|
NM_052989.3(IFT122):c.2304G>A (p.Val768=)
|
rs886057966
|
|
NM_052989.3(IFT122):c.2523C>T (p.His841=)
|
rs780586191
|
|
NM_052989.3(IFT122):c.2575G>C (p.Glu859Gln)
|
rs2081966365
|
|
NM_052989.3(IFT122):c.2798C>A (p.Ala933Asp)
|
rs747843863
|
|
NM_052989.3(IFT122):c.2881C>G (p.His961Asp)
|
rs1178500227
|
|
NM_052989.3(IFT122):c.3049C>A (p.His1017Asn)
|
rs900548596
|
|
NM_052989.3(IFT122):c.3391+6C>T
|
rs2084139065
|
|
NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro)
|
rs1251905610
|
|
NM_052989.3(IFT122):c.3636+3A>G
|
rs753825998
|
|
NM_052989.3(IFT122):c.3711T>C (p.Asp1237=)
|
rs2084594582
|
|
NM_052989.3(IFT122):c.552del (p.Cys183_Trp184insTer)
|
rs781766922
|
|
NM_145861.4(EDARADD):c.*1012A>G
|
rs572366811
|
|
NM_145861.4(EDARADD):c.*115A>G
|
rs886046188
|
|
NM_145861.4(EDARADD):c.*1262C>T
|
rs956560100
|
|
NM_145861.4(EDARADD):c.*1723G>A
|
rs940030231
|
|
NM_145861.4(EDARADD):c.*1788G>A
|
rs1053380939
|
|
NM_145861.4(EDARADD):c.*1962C>T
|
rs111987152
|
|
NM_145861.4(EDARADD):c.*2018C>G
|
rs886046198
|
|
NM_145861.4(EDARADD):c.*354G>C
|
rs886046190
|
|
NM_145861.4(EDARADD):c.*558C>T
|
rs1309549108
|
|
NM_145861.4(EDARADD):c.*586T>C
|
rs886046191
|
|
NM_145861.4(EDARADD):c.*746G>T
|
rs745456566
|
|
NM_145861.4(EDARADD):c.*971C>T
|
rs886046193
|
|
NM_145861.4(EDARADD):c.220-15C>T
|
rs886046185
|
|
NM_145861.4(EDARADD):c.302C>T (p.Thr101Ile)
|
rs886046186
|
|
NM_145861.4(EDARADD):c.571G>T (p.Val191Leu)
|
rs375789023
|
|
NM_147127.5(EVC2):c.*105C>T
|
rs1722029883
|
|
NM_147127.5(EVC2):c.*141A>G
|
rs565382969
|
|
NM_147127.5(EVC2):c.-29C>A
|
rs754218861
|
|
NM_147127.5(EVC2):c.1079T>A (p.Leu360His)
|
rs774401542
|
|
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr)
|
rs780517206
|
|
NM_147127.5(EVC2):c.1498C>A (p.Arg500=)
|
rs148248777
|
|
NM_147127.5(EVC2):c.1666C>T (p.Pro556Ser)
|
rs886059491
|
|
NM_147127.5(EVC2):c.1711-11_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.2137C>G (p.Leu713Val)
|
rs143662104
|
|
NM_147127.5(EVC2):c.284-10T>G
|
rs1192584069
|
|
NM_147127.5(EVC2):c.2983C>G (p.Leu995Val)
|
rs548381022
|
|
NM_147127.5(EVC2):c.299G>A (p.Gly100Glu)
|
rs886059493
|
|
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu)
|
rs370438593
|
|
NM_147127.5(EVC2):c.3119A>C (p.Gln1040Pro)
|
rs1722937250
|
|
NM_147127.5(EVC2):c.3229G>A (p.Ala1077Thr)
|
rs182888222
|
|
NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu)
|
rs150215092
|
|
NM_147127.5(EVC2):c.3305T>C (p.Leu1102Pro)
|
rs1722816787
|
|
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=)
|
rs1006097259
|
|
NM_147127.5(EVC2):c.3911C>T (p.Ala1304Val)
|
rs1722037682
|
|
NM_147127.5(EVC2):c.427G>A (p.Glu143Lys)
|
rs1721325369
|
|
NM_147127.5(EVC2):c.597C>T (p.Asn199=)
|
rs1003816966
|
|
NM_147127.5(EVC2):c.857A>G (p.Glu286Gly)
|
rs1720323516
|
|
NM_147127.5(EVC2):c.889C>G (p.Leu297Val)
|
rs886059492
|
|
NM_147127.5(EVC2):c.903G>T (p.Gly301=)
|
rs745889694
|
|
NM_153717.3(EVC):c.*1019A>C
|
rs13147919
|
|
NM_153717.3(EVC):c.*1073C>T
|
rs1271610715
|
|
NM_153717.3(EVC):c.*1176C>A
|
rs13121710
|
|
NM_153717.3(EVC):c.*1199G>A
|
rs1315669218
|
|
NM_153717.3(EVC):c.*1257G>T
|
rs1013315409
|
|
NM_153717.3(EVC):c.*1277A>C
|
rs1259649075
|
|
NM_153717.3(EVC):c.*1338C>T
|
rs1717063885
|
|
NM_153717.3(EVC):c.*1394T>C
|
rs1375474161
|
|
NM_153717.3(EVC):c.*1395C>T
|
rs886059513
|
|
NM_153717.3(EVC):c.*1428C>G
|
rs574764934
|
|
NM_153717.3(EVC):c.*1512T>C
|
rs576620294
|
|
NM_153717.3(EVC):c.*1515A>T
|
rs545639856
|
|
NM_153717.3(EVC):c.*1545T>G
|
rs1328816482
|
|
NM_153717.3(EVC):c.*2303T>A
|
rs915952245
|
|
NM_153717.3(EVC):c.*2349T>C
|
rs886059517
|
|
NM_153717.3(EVC):c.*2468C>G
|
rs1717227616
|
|
NM_153717.3(EVC):c.*2490C>G
|
rs145238482
|
|
NM_153717.3(EVC):c.*2490C>T
|
rs145238482
|
|
NM_153717.3(EVC):c.*2692G>A
|
rs149155153
|
|
NM_153717.3(EVC):c.*274C>G
|
rs758225073
|
|
NM_153717.3(EVC):c.*3046G>C
|
rs934986465
|
|
NM_153717.3(EVC):c.*3121C>G
|
rs1717320370
|
|
NM_153717.3(EVC):c.*367C>T
|
rs886059510
|
|
NM_153717.3(EVC):c.*3T>G
|
rs368249789
|
|
NM_153717.3(EVC):c.*582C>A
|
rs1716916256
|
|
NM_153717.3(EVC):c.*619C>G
|
rs1716921490
|
|
NM_153717.3(EVC):c.*704_*705insTT
|
rs886059511
|
|
NM_153717.3(EVC):c.*798T>G
|
rs13101313
|
|
NM_153717.3(EVC):c.*844C>G
|
rs1180694671
|
|
NM_153717.3(EVC):c.*877C>T
|
rs886059512
|
|
NM_153717.3(EVC):c.*956C>G
|
rs761012202
|
|
NM_153717.3(EVC):c.*967T>G
|
rs182343325
|
|
NM_153717.3(EVC):c.*995T>A
|
rs71599846
|
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NM_153717.3(EVC):c.-138GA[1]
|
rs886059494
|
|
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr)
|
rs886059505
|
|
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys)
|
rs373502728
|
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NM_153717.3(EVC):c.1465-5C>T
|
rs1731155996
|
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NM_153717.3(EVC):c.147C>T (p.Arg49=)
|
rs1723020172
|
|
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)
|
rs143971158
|
|
NM_153717.3(EVC):c.1589C>T (p.Thr530Ile)
|
rs1735956373
|
|
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr)
|
rs144943762
|
|
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu)
|
rs1736003818
|
|
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys)
|
rs545087909
|
|
NM_153717.3(EVC):c.2143C>G (p.Gln715Glu)
|
rs971647538
|
|
NM_153717.3(EVC):c.2391C>T (p.Ile797=)
|
rs202236029
|
|
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp)
|
rs886059506
|
|
NM_153717.3(EVC):c.2441C>T (p.Thr814Ile)
|
rs1715104252
|
|
NM_153717.3(EVC):c.2449+8del
|
rs886059507
|
|
NM_153717.3(EVC):c.248C>T (p.Ser83Leu)
|
rs886059495
|
|
NM_153717.3(EVC):c.2894+13C>T
|
rs886059508
|
|
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu)
|
rs749142395
|
|
NM_153717.3(EVC):c.612C>T (p.Cys204=)
|
rs553634958
|
|
NM_153717.3(EVC):c.83T>C (p.Leu28Pro)
|
rs1256100832
|
|
NM_198253.3(TERT):c.*308A>G
|
rs1747469600
|
|
NM_198253.3(TERT):c.1269C>T (p.Ala423=)
|
rs190411812
|
|
NM_198253.3(TERT):c.1401C>T (p.Ala467=)
|
rs1751126189
|
|
NM_198253.3(TERT):c.2003A>C (p.Glu668Ala)
|
rs1749859084
|
|
NM_198253.3(TERT):c.2523C>G (p.Leu841=)
|
rs1554039733
|
|
NM_198253.3(TERT):c.2626C>A (p.His876Asn)
|
rs1483412488
|
|
NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu)
|
rs886059831
|
|
NM_198253.3(TERT):c.483G>C (p.Leu161=)
|
rs755155708
|
|
NM_198253.3(TERT):c.663G>T (p.Ala221=)
|
rs35837567
|
|
NM_198253.3(TERT):c.696G>T (p.Leu232=)
|
rs1033402019
|
|
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr)
|
rs1751207450
|
|
NM_198253.3(TERT):c.875C>G (p.Thr292Arg)
|
rs1751193051
|
|
NM_198253.3(TERT):c.908A>T (p.His303Leu)
|
rs1751187792
|
|