NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)
|
rs9493627
|
0.37885
|
NM_004100.5(EYA4):c.804+17T>C
|
rs57845656
|
0.01673
|
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp)
|
rs75133151
|
0.00860
|
NM_004100.5(EYA4):c.111T>C (p.Ser37=)
|
rs35863035
|
0.00620
|
NM_004100.5(EYA4):c.103C>T (p.Leu35=)
|
rs35562371
|
0.00597
|
NM_004100.5(EYA4):c.804+16G>T
|
rs13362743
|
0.00276
|
NM_004100.5(EYA4):c.783G>A (p.Thr261=)
|
rs17854076
|
0.00136
|
NM_004100.5(EYA4):c.277+9G>A
|
rs145320803
|
0.00072
|
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)
|
rs41286200
|
0.00067
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
NM_004100.5(EYA4):c.768A>G (p.Ser256=)
|
rs147135637
|
0.00039
|
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)
|
rs144415484
|
0.00037
|
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn)
|
rs143757415
|
0.00034
|
NM_004100.5(EYA4):c.970+16C>G
|
rs201985955
|
0.00033
|
NM_004100.5(EYA4):c.987G>T (p.Met329Ile)
|
rs146144708
|
0.00021
|
NM_004100.5(EYA4):c.83+6G>A
|
rs200479266
|
0.00019
|
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr)
|
rs146999911
|
0.00015
|
NM_004100.5(EYA4):c.725-15G>T
|
rs151179883
|
0.00015
|
NM_004100.5(EYA4):c.1161C>T (p.Leu387=)
|
rs140472262
|
0.00009
|
NM_004100.5(EYA4):c.9C>T (p.Asp3=)
|
rs374322196
|
0.00009
|
NM_004100.5(EYA4):c.971-8A>T
|
rs761167268
|
0.00008
|
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys)
|
rs932450184
|
0.00007
|
NM_004100.5(EYA4):c.971-7T>C
|
rs764351261
|
0.00007
|
NM_004100.5(EYA4):c.252T>A (p.Ser84Arg)
|
rs758076073
|
0.00006
|
NM_004100.5(EYA4):c.454C>G (p.Leu152Val)
|
rs753705589
|
0.00006
|
NM_004100.5(EYA4):c.580+8A>C
|
rs529080186
|
0.00006
|
NM_004100.5(EYA4):c.1107+13A>C
|
rs775989680
|
0.00005
|
NM_004100.5(EYA4):c.278-4G>A
|
rs201806127
|
0.00005
|
NM_004100.5(EYA4):c.182C>T (p.Thr61Ile)
|
rs778473535
|
0.00004
|
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg)
|
rs727503050
|
0.00004
|
NM_004100.5(EYA4):c.529G>A (p.Val177Ile)
|
rs776409783
|
0.00004
|
NM_004100.5(EYA4):c.741A>G (p.Pro247=)
|
rs752226573
|
0.00004
|
NM_004100.5(EYA4):c.999C>A (p.Ser333=)
|
rs894683876
|
0.00004
|
NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln)
|
rs762144530
|
0.00003
|
NM_004100.5(EYA4):c.16G>A (p.Asp6Asn)
|
rs1253239225
|
0.00003
|
NM_004100.5(EYA4):c.528C>T (p.Ala176=)
|
rs199701258
|
0.00003
|
NM_004100.5(EYA4):c.660C>A (p.Leu220=)
|
rs755795461
|
0.00003
|
NM_004100.5(EYA4):c.813A>G (p.Pro271=)
|
rs370562413
|
0.00003
|
NM_004100.5(EYA4):c.824C>G (p.Ala275Gly)
|
rs748654006
|
0.00003
|
NM_004100.5(EYA4):c.848A>G (p.Gln283Arg)
|
rs376151731
|
0.00003
|
NM_004100.5(EYA4):c.860C>T (p.Ala287Val)
|
rs374522988
|
0.00003
|
NM_004100.5(EYA4):c.873A>T (p.Gly291=)
|
rs761206775
|
0.00003
|
NM_004100.5(EYA4):c.955C>T (p.Leu319=)
|
rs370874438
|
0.00003
|
NM_004100.5(EYA4):c.970+5A>G
|
rs886061089
|
0.00003
|
NM_004100.5(EYA4):c.973G>A (p.Glu325Lys)
|
rs1003638503
|
0.00003
|
NM_004100.5(EYA4):c.1058G>A (p.Gly353Glu)
|
rs267600817
|
0.00002
|
NM_004100.5(EYA4):c.1107+10C>G
|
rs752586864
|
0.00002
|
NM_004100.5(EYA4):c.1137C>T (p.Thr379=)
|
rs151245774
|
0.00002
|
NM_004100.5(EYA4):c.1164C>T (p.Thr388=)
|
rs763994459
|
0.00002
|
NM_004100.5(EYA4):c.158T>C (p.Leu53Pro)
|
rs753371831
|
0.00002
|
NM_004100.5(EYA4):c.211G>A (p.Glu71Lys)
|
rs537561870
|
0.00002
|
NM_004100.5(EYA4):c.217A>G (p.Met73Val)
|
rs970732881
|
0.00002
|
NM_004100.5(EYA4):c.233C>G (p.Thr78Arg)
|
rs201644472
|
0.00002
|
NM_004100.5(EYA4):c.347C>T (p.Ala116Val)
|
rs747223436
|
0.00002
|
NM_004100.5(EYA4):c.348G>A (p.Ala116=)
|
rs373496105
|
0.00002
|
NM_004100.5(EYA4):c.370+16C>T
|
rs376239950
|
0.00002
|
NM_004100.5(EYA4):c.437+9del
|
rs748093293
|
0.00002
|
NM_004100.5(EYA4):c.513G>A (p.Gly171=)
|
rs776245355
|
0.00002
|
NM_004100.5(EYA4):c.523C>A (p.Pro175Thr)
|
rs763350623
|
0.00002
|
NM_004100.5(EYA4):c.550A>G (p.Thr184Ala)
|
rs886039203
|
0.00002
|
NM_004100.5(EYA4):c.579C>T (p.Tyr193=)
|
rs747954279
|
0.00002
|
NM_004100.5(EYA4):c.5A>G (p.Glu2Gly)
|
rs780081930
|
0.00002
|
NM_004100.5(EYA4):c.704C>T (p.Pro235Leu)
|
rs765608642
|
0.00002
|
NM_004100.5(EYA4):c.805-12T>C
|
rs375862613
|
0.00002
|
NM_004100.5(EYA4):c.838C>A (p.Gln280Lys)
|
rs202030718
|
0.00002
|
NM_004100.5(EYA4):c.861A>G (p.Ala287=)
|
rs775461679
|
0.00002
|
NM_004100.5(EYA4):c.887C>T (p.Ser296Leu)
|
rs755455584
|
0.00002
|
NM_004100.5(EYA4):c.946C>T (p.Leu316Phe)
|
rs1188519938
|
0.00002
|
NM_004100.5(EYA4):c.961A>G (p.Asn321Asp)
|
rs202049252
|
0.00002
|
NM_004100.5(EYA4):c.971-3T>C
|
rs377224718
|
0.00002
|
NM_004100.5(EYA4):c.971-6C>G
|
rs369993979
|
0.00002
|
NM_004100.5(EYA4):c.1066C>G (p.Arg356Gly)
|
rs776882781
|
0.00001
|
NM_004100.5(EYA4):c.1073A>G (p.Asn358Ser)
|
rs1198001216
|
0.00001
|
NM_004100.5(EYA4):c.1078C>A (p.Pro360Thr)
|
rs765773822
|
0.00001
|
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu)
|
rs1168354526
|
0.00001
|
NM_004100.5(EYA4):c.1095T>C (p.Asp365=)
|
rs779806687
|
0.00001
|
NM_004100.5(EYA4):c.1107+4T>C
|
rs1408725969
|
0.00001
|
NM_004100.5(EYA4):c.1108C>T (p.Arg370Cys)
|
rs576607924
|
0.00001
|
NM_004100.5(EYA4):c.1109G>A (p.Arg370His)
|
rs143936434
|
0.00001
|
NM_004100.5(EYA4):c.1191+12A>G
|
rs746682236
|
0.00001
|
NM_004100.5(EYA4):c.208+3A>G
|
rs1234788716
|
0.00001
|
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp)
|
rs200042576
|
0.00001
|
NM_004100.5(EYA4):c.222T>A (p.Thr74=)
|
rs1458388711
|
0.00001
|
NM_004100.5(EYA4):c.260C>T (p.Thr87Ile)
|
rs753132753
|
0.00001
|
NM_004100.5(EYA4):c.271G>T (p.Ala91Ser)
|
rs1356492542
|
0.00001
|
NM_004100.5(EYA4):c.2T>C (p.Met1Thr)
|
rs200593099
|
0.00001
|
NM_004100.5(EYA4):c.306C>G (p.Pro102=)
|
rs778265878
|
0.00001
|
NM_004100.5(EYA4):c.33+19T>C
|
rs772392856
|
0.00001
|
NM_004100.5(EYA4):c.33A>G (p.Ser11=)
|
rs143613363
|
0.00001
|
NM_004100.5(EYA4):c.34-16T>C
|
rs373611331
|
0.00001
|
NM_004100.5(EYA4):c.349C>T (p.Leu117Phe)
|
rs1044216762
|
0.00001
|
NM_004100.5(EYA4):c.39G>C (p.Lys13Asn)
|
rs758104829
|
0.00001
|
NM_004100.5(EYA4):c.407A>G (p.His136Arg)
|
rs751662203
|
0.00001
|
NM_004100.5(EYA4):c.410A>G (p.Gln137Arg)
|
rs754993172
|
0.00001
|
NM_004100.5(EYA4):c.438-15T>C
|
rs752763979
|
0.00001
|
NM_004100.5(EYA4):c.447A>C (p.Pro149=)
|
rs1794470384
|
0.00001
|
NM_004100.5(EYA4):c.44C>T (p.Thr15Met)
|
rs769070323
|
0.00001
|
NM_004100.5(EYA4):c.45G>A (p.Thr15=)
|
rs145724851
|
0.00001
|
NM_004100.5(EYA4):c.463C>T (p.Pro155Ser)
|
rs543278630
|
0.00001
|
NM_004100.5(EYA4):c.478A>G (p.Met160Val)
|
rs1268878098
|
0.00001
|
NM_004100.5(EYA4):c.509C>T (p.Ser170Leu)
|
rs184768806
|
0.00001
|
NM_004100.5(EYA4):c.512G>T (p.Gly171Val)
|
rs1157191952
|
0.00001
|
NM_004100.5(EYA4):c.552A>G (p.Thr184=)
|
rs759974412
|
0.00001
|
NM_004100.5(EYA4):c.557A>G (p.Gln186Arg)
|
rs767996783
|
0.00001
|
NM_004100.5(EYA4):c.580G>A (p.Asp194Asn)
|
rs1199874172
|
0.00001
|
NM_004100.5(EYA4):c.585G>C (p.Leu195Phe)
|
rs1794498749
|
0.00001
|
NM_004100.5(EYA4):c.586G>T (p.Gly196Cys)
|
rs764258439
|
0.00001
|
NM_004100.5(EYA4):c.59A>G (p.Asp20Gly)
|
rs779385322
|
0.00001
|
NM_004100.5(EYA4):c.601G>A (p.Ala201Thr)
|
rs765515937
|
0.00001
|
NM_004100.5(EYA4):c.623T>C (p.Leu208Pro)
|
rs2060740628
|
0.00001
|
NM_004100.5(EYA4):c.668G>C (p.Ser223Thr)
|
rs1468256328
|
0.00001
|
NM_004100.5(EYA4):c.672A>G (p.Pro224=)
|
rs777434048
|
0.00001
|
NM_004100.5(EYA4):c.675G>T (p.Gly225=)
|
rs746266041
|
0.00001
|
NM_004100.5(EYA4):c.683C>T (p.Thr228Ile)
|
rs747533734
|
0.00001
|
NM_004100.5(EYA4):c.698A>G (p.Gln233Arg)
|
rs776882909
|
0.00001
|
NM_004100.5(EYA4):c.69A>G (p.Gln23=)
|
rs1356813658
|
0.00001
|
NM_004100.5(EYA4):c.707A>G (p.Tyr236Cys)
|
rs1060502993
|
0.00001
|
NM_004100.5(EYA4):c.723A>G (p.Pro241=)
|
rs556550485
|
0.00001
|
NM_004100.5(EYA4):c.770T>C (p.Val257Ala)
|
rs1794706639
|
0.00001
|
NM_004100.5(EYA4):c.790A>G (p.Ser264Gly)
|
rs1392356186
|
0.00001
|
NM_004100.5(EYA4):c.807T>C (p.Asp269=)
|
rs1795046144
|
0.00001
|
NM_004100.5(EYA4):c.811C>G (p.Pro271Ala)
|
rs752023028
|
0.00001
|
NM_004100.5(EYA4):c.83+5A>G
|
rs1060502995
|
0.00001
|
NM_004100.5(EYA4):c.840G>A (p.Gln280=)
|
rs1795049846
|
0.00001
|
NM_004100.5(EYA4):c.875C>T (p.Ala292Val)
|
rs764985361
|
0.00001
|
NM_004100.5(EYA4):c.876G>A (p.Ala292=)
|
rs750099139
|
0.00001
|
NM_004100.5(EYA4):c.888G>A (p.Ser296=)
|
rs768010410
|
0.00001
|
NM_004100.5(EYA4):c.89T>A (p.Met30Lys)
|
rs1554259054
|
0.00001
|
NM_004100.5(EYA4):c.900C>T (p.Ala300=)
|
rs1053782342
|
0.00001
|
NM_004100.5(EYA4):c.901G>A (p.Asp301Asn)
|
rs779172192
|
0.00001
|
NM_004100.5(EYA4):c.918A>G (p.Ser306=)
|
rs1795058293
|
0.00001
|
NM_004100.5(EYA4):c.919A>G (p.Thr307Ala)
|
rs1289099998
|
0.00001
|
NM_004100.5(EYA4):c.949C>T (p.Pro317Ser)
|
rs1554263071
|
0.00001
|
NM_004100.5(EYA4):c.970+6G>T
|
rs753123820
|
0.00001
|
NC_000006.11:g.(?_133595919)_(133595971_?)dup
|
|
|
NC_000006.11:g.(?_133782232)_(133783922_?)del
|
|
|
NC_000006.12:g.(?_133446610)_(133483135_?)del
|
|
|
NC_000006.12:g.(?_133525015)_(133528805_?)del
|
|
|
NM_004100.5(EYA4):c.1010A>G (p.Lys337Arg)
|
rs755172395
|
|
NM_004100.5(EYA4):c.1020T>A (p.Asp340Glu)
|
|
|
NM_004100.5(EYA4):c.1029C>T (p.Thr343=)
|
|
|
NM_004100.5(EYA4):c.1031G>A (p.Cys344Tyr)
|
rs2128707567
|
|
NM_004100.5(EYA4):c.103C>G (p.Leu35Val)
|
rs35562371
|
|
NM_004100.5(EYA4):c.1042G>A (p.Gly348Arg)
|
|
|
NM_004100.5(EYA4):c.1042G>C (p.Gly348Arg)
|
rs1279116848
|
|
NM_004100.5(EYA4):c.1043G>A (p.Gly348Glu)
|
rs2128707600
|
|
NM_004100.5(EYA4):c.1064G>A (p.Gly355Asp)
|
|
|
NM_004100.5(EYA4):c.1065C>A (p.Gly355=)
|
|
|
NM_004100.5(EYA4):c.1066C>T (p.Arg356Trp)
|
|
|
NM_004100.5(EYA4):c.1086G>A (p.Pro362=)
|
|
|
NM_004100.5(EYA4):c.1095T>G (p.Asp365Glu)
|
rs779806687
|
|
NM_004100.5(EYA4):c.1096A>G (p.Ser366Gly)
|
rs1562471411
|
|
NM_004100.5(EYA4):c.1107+11T>C
|
|
|
NM_004100.5(EYA4):c.1107+12C>T
|
|
|
NM_004100.5(EYA4):c.1107+16C>A
|
|
|
NM_004100.5(EYA4):c.1107+16C>G
|
|
|
NM_004100.5(EYA4):c.1107+19A>T
|
rs1562471490
|
|
NM_004100.5(EYA4):c.1107+7C>G
|
rs1377200434
|
|
NM_004100.5(EYA4):c.1108-13T>G
|
|
|
NM_004100.5(EYA4):c.1108-19dup
|
|
|
NM_004100.5(EYA4):c.110G>A (p.Ser37Asn)
|
|
|
NM_004100.5(EYA4):c.1134A>T (p.Glu378Asp)
|
rs2128711218
|
|
NM_004100.5(EYA4):c.1144G>C (p.Val382Leu)
|
|
|
NM_004100.5(EYA4):c.1156C>T (p.Leu386=)
|
|
|
NM_004100.5(EYA4):c.1165G>A (p.Gly389Arg)
|
|
|
NM_004100.5(EYA4):c.1167G>A (p.Gly389=)
|
|
|
NM_004100.5(EYA4):c.116A>G (p.His39Arg)
|
|
|
NM_004100.5(EYA4):c.1173T>C (p.Tyr391=)
|
|
|
NM_004100.5(EYA4):c.1191+18_1191+20dup
|
|
|
NM_004100.5(EYA4):c.1191+4_1191+5insT
|
|
|
NM_004100.5(EYA4):c.1191+6_1191+8del
|
|
|
NM_004100.5(EYA4):c.119C>T (p.Thr40Ile)
|
|
|
NM_004100.5(EYA4):c.121C>A (p.Leu41Ile)
|
|
|
NM_004100.5(EYA4):c.136G>C (p.Asp46His)
|
|
|
NM_004100.5(EYA4):c.137A>G (p.Asp46Gly)
|
rs1439822731
|
|
NM_004100.5(EYA4):c.141T>G (p.Thr47=)
|
|
|
NM_004100.5(EYA4):c.152C>T (p.Ser51Phe)
|
rs542906126
|
|
NM_004100.5(EYA4):c.155A>C (p.Lys52Thr)
|
rs763983145
|
|
NM_004100.5(EYA4):c.155A>G (p.Lys52Arg)
|
|
|
NM_004100.5(EYA4):c.156A>G (p.Lys52=)
|
|
|
NM_004100.5(EYA4):c.161A>T (p.Glu54Val)
|
|
|
NM_004100.5(EYA4):c.172C>A (p.Leu58Ile)
|
rs1562431794
|
|
NM_004100.5(EYA4):c.190_191insAAA (p.Val63_Thr64insLys)
|
|
|
NM_004100.5(EYA4):c.197A>G (p.Asn66Ser)
|
rs1792883329
|
|
NM_004100.5(EYA4):c.204A>G (p.Thr68=)
|
rs2128623032
|
|
NM_004100.5(EYA4):c.208+10C>T
|
|
|
NM_004100.5(EYA4):c.208+12A>T
|
|
|
NM_004100.5(EYA4):c.208+14C>A
|
|
|
NM_004100.5(EYA4):c.208+7G>A
|
rs1792885399
|
|
NM_004100.5(EYA4):c.208+7G>T
|
rs1792885399
|
|
NM_004100.5(EYA4):c.209-10C>A
|
rs1562433382
|
|
NM_004100.5(EYA4):c.209-14G>C
|
rs2128625875
|
|
NM_004100.5(EYA4):c.209-1G>A
|
rs1441151762
|
|
NM_004100.5(EYA4):c.211G>T (p.Glu71Ter)
|
|
|
NM_004100.5(EYA4):c.215A>G (p.Asn72Ser)
|
rs200688814
|
|
NM_004100.5(EYA4):c.218T>A (p.Met73Lys)
|
|
|
NM_004100.5(EYA4):c.221C>G (p.Thr74Ser)
|
|
|
NM_004100.5(EYA4):c.221C>T (p.Thr74Ile)
|
rs2128625983
|
|
NM_004100.5(EYA4):c.223G>C (p.Val75Leu)
|
rs1793039802
|
|
NM_004100.5(EYA4):c.223_224del (p.Val75fs)
|
|
|
NM_004100.5(EYA4):c.235G>A (p.Ala79Thr)
|
|
|
NM_004100.5(EYA4):c.237A>G (p.Ala79=)
|
rs727504840
|
|
NM_004100.5(EYA4):c.23A>G (p.Asn8Ser)
|
|
|
NM_004100.5(EYA4):c.242G>A (p.Trp81Ter)
|
|
|
NM_004100.5(EYA4):c.243G>C (p.Trp81Cys)
|
rs2128626064
|
|
NM_004100.5(EYA4):c.24T>G (p.Asn8Lys)
|
|
|
NM_004100.5(EYA4):c.251G>A (p.Ser84Asn)
|
rs1215782368
|
|
NM_004100.5(EYA4):c.255C>T (p.Cys85=)
|
rs2128626096
|
|
NM_004100.5(EYA4):c.257A>G (p.Asn86Ser)
|
rs779810823
|
|
NM_004100.5(EYA4):c.261C>T (p.Thr87=)
|
|
|
NM_004100.5(EYA4):c.262C>A (p.Pro88Thr)
|
|
|
NM_004100.5(EYA4):c.263C>T (p.Pro88Leu)
|
|
|
NM_004100.5(EYA4):c.26A>C (p.Glu9Ala)
|
rs1191543342
|
|
NM_004100.5(EYA4):c.277+10A>G
|
|
|
NM_004100.5(EYA4):c.277+11T>A
|
rs1315418407
|
|
NM_004100.5(EYA4):c.277+1G>A
|
|
|
NM_004100.5(EYA4):c.277+3A>G
|
rs1583306088
|
|
NM_004100.5(EYA4):c.278-18A>C
|
|
|
NM_004100.5(EYA4):c.278-20G>A
|
|
|
NM_004100.5(EYA4):c.278-5C>T
|
|
|
NM_004100.5(EYA4):c.278T>C (p.Met93Thr)
|
rs1344229695
|
|
NM_004100.5(EYA4):c.281C>A (p.Ser94Tyr)
|
rs2128644139
|
|
NM_004100.5(EYA4):c.290C>G (p.Ala97Gly)
|
|
|
NM_004100.5(EYA4):c.304C>G (p.Pro102Ala)
|
|
|
NM_004100.5(EYA4):c.30A>G (p.Gln10=)
|
rs1060502996
|
|
NM_004100.5(EYA4):c.313A>C (p.Ser105Arg)
|
rs1060502994
|
|
NM_004100.5(EYA4):c.314G>A (p.Ser105Asn)
|
rs2128644229
|
|
NM_004100.5(EYA4):c.315C>T (p.Ser105=)
|
|
|
NM_004100.5(EYA4):c.319G>A (p.Glu107Lys)
|
rs1793927066
|
|
NM_004100.5(EYA4):c.329C>T (p.Ala110Val)
|
|
|
NM_004100.5(EYA4):c.32C>T (p.Ser11Leu)
|
rs1394230343
|
|
NM_004100.5(EYA4):c.33+11A>C
|
rs1777030773
|
|
NM_004100.5(EYA4):c.33+12T>C
|
rs759940308
|
|
NM_004100.5(EYA4):c.33+2T>G
|
rs2128268726
|
|
NM_004100.5(EYA4):c.33+5G>C
|
rs1777030034
|
|
NM_004100.5(EYA4):c.332C>T (p.Thr111Met)
|
rs772111281
|
|
NM_004100.5(EYA4):c.333G>A (p.Thr111=)
|
|
|
NM_004100.5(EYA4):c.336T>G (p.Thr112=)
|
|
|
NM_004100.5(EYA4):c.338G>C (p.Gly113Ala)
|
|
|
NM_004100.5(EYA4):c.34-17G>C
|
|
|
NM_004100.5(EYA4):c.342T>C (p.Asp114=)
|
|
|
NM_004100.5(EYA4):c.348G>C (p.Ala116=)
|
rs373496105
|
|
NM_004100.5(EYA4):c.354C>T (p.Asp118=)
|
|
|
NM_004100.5(EYA4):c.363T>C (p.Thr121=)
|
|
|
NM_004100.5(EYA4):c.36A>G (p.Val12=)
|
rs2128480628
|
|
NM_004100.5(EYA4):c.370+17G>A
|
|
|
NM_004100.5(EYA4):c.370+17G>C
|
|
|
NM_004100.5(EYA4):c.370+1G>T
|
|
|
NM_004100.5(EYA4):c.371-11G>A
|
|
|
NM_004100.5(EYA4):c.371-17A>G
|
rs749224573
|
|
NM_004100.5(EYA4):c.371-2A>G
|
|
|
NM_004100.5(EYA4):c.374T>C (p.Ile125Thr)
|
rs770929581
|
|
NM_004100.5(EYA4):c.377C>G (p.Thr126Arg)
|
|
|
NM_004100.5(EYA4):c.37A>G (p.Lys13Glu)
|
|
|
NM_004100.5(EYA4):c.386G>T (p.Gly129Val)
|
rs1554261713
|
|
NM_004100.5(EYA4):c.38A>G (p.Lys13Arg)
|
|
|
NM_004100.5(EYA4):c.394C>A (p.Pro132Thr)
|
|
|
NM_004100.5(EYA4):c.396C>T (p.Pro132=)
|
|
|
NM_004100.5(EYA4):c.413A>G (p.Tyr138Cys)
|
rs1794347562
|
|
NM_004100.5(EYA4):c.424C>T (p.Leu142=)
|
|
|
NM_004100.5(EYA4):c.428A>G (p.Tyr143Cys)
|
rs749021618
|
|
NM_004100.5(EYA4):c.437+11A>G
|
|
|
NM_004100.5(EYA4):c.437+14A>G
|
|
|
NM_004100.5(EYA4):c.437+3A>G
|
|
|
NM_004100.5(EYA4):c.437+7G>C
|
|
|
NM_004100.5(EYA4):c.437A>G (p.Lys146Arg)
|
rs2128655388
|
|
NM_004100.5(EYA4):c.438-14T>C
|
|
|
NM_004100.5(EYA4):c.438-17A>G
|
|
|
NM_004100.5(EYA4):c.438-8A>G
|
rs1794468551
|
|
NM_004100.5(EYA4):c.438G>T (p.Lys146Asn)
|
rs2128658396
|
|
NM_004100.5(EYA4):c.43A>G (p.Thr15Ala)
|
rs1359824142
|
|
NM_004100.5(EYA4):c.443A>T (p.Tyr148Phe)
|
rs939001947
|
|
NM_004100.5(EYA4):c.44C>A (p.Thr15Lys)
|
rs769070323
|
|
NM_004100.5(EYA4):c.44C>G (p.Thr15Arg)
|
|
|
NM_004100.5(EYA4):c.452T>C (p.Ile151Thr)
|
rs2128658440
|
|
NM_004100.5(EYA4):c.458C>G (p.Ser153Cys)
|
rs1554261941
|
|
NM_004100.5(EYA4):c.468A>T (p.Ala156=)
|
|
|
NM_004100.5(EYA4):c.488A>G (p.Tyr163Cys)
|
|
|
NM_004100.5(EYA4):c.489T>C (p.Tyr163=)
|
|
|
NM_004100.5(EYA4):c.493G>A (p.Gly165Ser)
|
|
|
NM_004100.5(EYA4):c.494G>A (p.Gly165Asp)
|
rs1794475262
|
|
NM_004100.5(EYA4):c.498G>A (p.Gln166=)
|
|
|
NM_004100.5(EYA4):c.506A>G (p.Tyr169Cys)
|
rs2128658614
|
|
NM_004100.5(EYA4):c.510G>A (p.Ser170=)
|
|
|
NM_004100.5(EYA4):c.510G>T (p.Ser170=)
|
|
|
NM_004100.5(EYA4):c.511G>C (p.Gly171Arg)
|
|
|
NM_004100.5(EYA4):c.51A>G (p.Thr17=)
|
rs1038991613
|
|
NM_004100.5(EYA4):c.531C>G (p.Val177=)
|
|
|
NM_004100.5(EYA4):c.542A>G (p.Tyr181Cys)
|
|
|
NM_004100.5(EYA4):c.546A>T (p.Ser182=)
|
|
|
NM_004100.5(EYA4):c.549G>T (p.Gln183His)
|
rs267600815
|
|
NM_004100.5(EYA4):c.558G>A (p.Gln186=)
|
|
|
NM_004100.5(EYA4):c.561C>T (p.Pro187=)
|
|
|
NM_004100.5(EYA4):c.565A>G (p.Ser189Gly)
|
|
|
NM_004100.5(EYA4):c.566G>T (p.Ser189Ile)
|
rs760755612
|
|
NM_004100.5(EYA4):c.574A>G (p.Thr192Ala)
|
|
|
NM_004100.5(EYA4):c.578A>G (p.Tyr193Cys)
|
|
|
NM_004100.5(EYA4):c.579C>G (p.Tyr193Ter)
|
|
|
NM_004100.5(EYA4):c.580+14_580+16del
|
rs139659489
|
|
NM_004100.5(EYA4):c.580+15_580+16del
|
|
|
NM_004100.5(EYA4):c.580+17G>A
|
|
|
NM_004100.5(EYA4):c.580+4T>C
|
|
|
NM_004100.5(EYA4):c.580+5T>G
|
|
|
NM_004100.5(EYA4):c.580+9C>T
|
rs1794485545
|
|
NM_004100.5(EYA4):c.581-7T>C
|
|
|
NM_004100.5(EYA4):c.583T>C (p.Leu195=)
|
|
|
NM_004100.5(EYA4):c.587G>A (p.Gly196Asp)
|
rs776796938
|
|
NM_004100.5(EYA4):c.587G>C (p.Gly196Ala)
|
|
|
NM_004100.5(EYA4):c.590T>C (p.Val197Ala)
|
rs1794499562
|
|
NM_004100.5(EYA4):c.609G>A (p.Lys203=)
|
rs1794500966
|
|
NM_004100.5(EYA4):c.615G>A (p.Glu205=)
|
rs2128659307
|
|
NM_004100.5(EYA4):c.619G>A (p.Gly207Arg)
|
rs1794501902
|
|
NM_004100.5(EYA4):c.61del (p.Val21fs)
|
|
|
NM_004100.5(EYA4):c.625T>C (p.Ser209Pro)
|
|
|
NM_004100.5(EYA4):c.62T>G (p.Val21Gly)
|
rs1786300577
|
|
NM_004100.5(EYA4):c.630A>G (p.Gln210=)
|
|
|
NM_004100.5(EYA4):c.633T>G (p.Thr211=)
|
rs1794503381
|
|
NM_004100.5(EYA4):c.638C>A (p.Ser213Tyr)
|
|
|
NM_004100.5(EYA4):c.641C>A (p.Pro214Gln)
|
rs878854624
|
|
NM_004100.5(EYA4):c.642A>G (p.Pro214=)
|
|
|
NM_004100.5(EYA4):c.652G>T (p.Gly218Cys)
|
|
|
NM_004100.5(EYA4):c.666C>T (p.Tyr222=)
|
|
|
NM_004100.5(EYA4):c.667A>G (p.Ser223Gly)
|
rs2128659458
|
|
NM_004100.5(EYA4):c.66A>G (p.Ser22=)
|
rs2128480683
|
|
NM_004100.5(EYA4):c.67C>T (p.Gln23Ter)
|
rs1293420539
|
|
NM_004100.5(EYA4):c.680C>T (p.Ser227Phe)
|
|
|
NM_004100.5(EYA4):c.686C>A (p.Pro229Gln)
|
|
|
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu)
|
rs769220102
|
|
NM_004100.5(EYA4):c.687A>G (p.Pro229=)
|
|
|
NM_004100.5(EYA4):c.690G>C (p.Gln230His)
|
|
|
NM_004100.5(EYA4):c.695G>T (p.Gly232Val)
|
|
|
NM_004100.5(EYA4):c.699G>A (p.Gln233=)
|
|
|
NM_004100.5(EYA4):c.701C>T (p.Thr234Ile)
|
|
|
NM_004100.5(EYA4):c.706T>C (p.Tyr236His)
|
|
|
NM_004100.5(EYA4):c.711T>C (p.Ser237=)
|
rs1554262053
|
|
NM_004100.5(EYA4):c.712T>C (p.Tyr238His)
|
|
|
NM_004100.5(EYA4):c.715C>G (p.Gln239Glu)
|
rs2128659661
|
|
NM_004100.5(EYA4):c.724+15A>G
|
|
|
NM_004100.5(EYA4):c.724+9C>G
|
|
|
NM_004100.5(EYA4):c.724G>A (p.Gly242Ser)
|
|
|
NM_004100.5(EYA4):c.725-14T>C
|
|
|
NM_004100.5(EYA4):c.725-19A>C
|
|
|
NM_004100.5(EYA4):c.725-19A>G
|
rs751251924
|
|
NM_004100.5(EYA4):c.725-9del
|
rs776867589
|
|
NM_004100.5(EYA4):c.729T>C (p.Ser243=)
|
rs1794703368
|
|
NM_004100.5(EYA4):c.735T>C (p.Phe245=)
|
rs1794703788
|
|
NM_004100.5(EYA4):c.740C>G (p.Pro247Arg)
|
|
|
NM_004100.5(EYA4):c.744A>G (p.Ser248=)
|
rs397516879
|
|
NM_004100.5(EYA4):c.749C>G (p.Thr250Ser)
|
|
|
NM_004100.5(EYA4):c.757G>A (p.Ala253Thr)
|
|
|
NM_004100.5(EYA4):c.75G>A (p.Gln25=)
|
|
|
NM_004100.5(EYA4):c.764A>G (p.Asn255Ser)
|
|
|
NM_004100.5(EYA4):c.781A>G (p.Thr261Ala)
|
|
|
NM_004100.5(EYA4):c.782C>G (p.Thr261Arg)
|
|
|
NM_004100.5(EYA4):c.782C>T (p.Thr261Met)
|
rs959547878
|
|
NM_004100.5(EYA4):c.793G>A (p.Gly265Ser)
|
|
|
NM_004100.5(EYA4):c.7G>A (p.Asp3Asn)
|
|
|
NM_004100.5(EYA4):c.806A>T (p.Asp269Val)
|
rs1562457061
|
|
NM_004100.5(EYA4):c.809A>G (p.Tyr270Cys)
|
rs1048564742
|
|
NM_004100.5(EYA4):c.818A>C (p.Tyr273Ser)
|
|
|
NM_004100.5(EYA4):c.824C>A (p.Ala275Asp)
|
|
|
NM_004100.5(EYA4):c.824C>T (p.Ala275Val)
|
rs748654006
|
|
NM_004100.5(EYA4):c.83+11A>T
|
|
|
NM_004100.5(EYA4):c.83+20A>G
|
|
|
NM_004100.5(EYA4):c.83+21del
|
|
|
NM_004100.5(EYA4):c.83+6G>C
|
rs200479266
|
|
NM_004100.5(EYA4):c.83+6G>T
|
|
|
NM_004100.5(EYA4):c.832C>T (p.Gln278Ter)
|
rs2128674457
|
|
NM_004100.5(EYA4):c.84-9C>G
|
|
|
NM_004100.5(EYA4):c.842A>T (p.Tyr281Phe)
|
rs558399007
|
|
NM_004100.5(EYA4):c.843T>C (p.Tyr281=)
|
|
|
NM_004100.5(EYA4):c.865A>C (p.Thr289Pro)
|
|
|
NM_004100.5(EYA4):c.867G>A (p.Thr289=)
|
rs763899252
|
|
NM_004100.5(EYA4):c.869A>G (p.Tyr290Cys)
|
rs1795052577
|
|
NM_004100.5(EYA4):c.86C>G (p.Ser29Cys)
|
|
|
NM_004100.5(EYA4):c.872G>A (p.Gly291Glu)
|
|
|
NM_004100.5(EYA4):c.874G>A (p.Ala292Thr)
|
rs1195889018
|
|
NM_004100.5(EYA4):c.875C>G (p.Ala292Gly)
|
|
|
NM_004100.5(EYA4):c.876G>C (p.Ala292=)
|
rs750099139
|
|
NM_004100.5(EYA4):c.884C>T (p.Thr295Ile)
|
|
|
NM_004100.5(EYA4):c.88A>C (p.Met30Leu)
|
rs1026869914
|
|
NM_004100.5(EYA4):c.893A>C (p.Asn298Thr)
|
|
|
NM_004100.5(EYA4):c.898G>T (p.Ala300Ser)
|
rs1795055897
|
|
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp)
|
rs757252384
|
|
NM_004100.5(EYA4):c.899C>T (p.Ala300Val)
|
rs757252384
|
|
NM_004100.5(EYA4):c.89T>G (p.Met30Arg)
|
|
|
NM_004100.5(EYA4):c.902A>G (p.Asp301Gly)
|
|
|
NM_004100.5(EYA4):c.914C>T (p.Ser305Phe)
|
rs1795057880
|
|
NM_004100.5(EYA4):c.920C>A (p.Thr307Asn)
|
|
|
NM_004100.5(EYA4):c.921C>G (p.Thr307=)
|
|
|
NM_004100.5(EYA4):c.923C>G (p.Ser308Cys)
|
|
|
NM_004100.5(EYA4):c.925A>G (p.Thr309Ala)
|
rs556335059
|
|
NM_004100.5(EYA4):c.929A>G (p.Tyr310Cys)
|
|
|
NM_004100.5(EYA4):c.929A>T (p.Tyr310Phe)
|
|
|
NM_004100.5(EYA4):c.930T>C (p.Tyr310=)
|
|
|
NM_004100.5(EYA4):c.943T>A (p.Ser315Thr)
|
|
|
NM_004100.5(EYA4):c.949C>G (p.Pro317Ala)
|
rs1554263071
|
|
NM_004100.5(EYA4):c.951A>C (p.Pro317=)
|
rs1060504783
|
|
NM_004100.5(EYA4):c.955C>G (p.Leu319Val)
|
rs370874438
|
|
NM_004100.5(EYA4):c.961A>C (p.Asn321His)
|
rs202049252
|
|
NM_004100.5(EYA4):c.963C>A (p.Asn321Lys)
|
|
|
NM_004100.5(EYA4):c.966A>G (p.Gln322=)
|
rs762696698
|
|
NM_004100.5(EYA4):c.966A>T (p.Gln322His)
|
|
|
NM_004100.5(EYA4):c.969A>T (p.Pro323=)
|
|
|
NM_004100.5(EYA4):c.970+10T>C
|
|
|
NM_004100.5(EYA4):c.970+12C>T
|
|
|
NM_004100.5(EYA4):c.970+1G>A
|
rs2128674984
|
|
NM_004100.5(EYA4):c.970+1G>T
|
rs2128674984
|
|
NM_004100.5(EYA4):c.970+3A>G
|
rs1358062338
|
|
NM_004100.5(EYA4):c.970+6del
|
|
|
NM_004100.5(EYA4):c.970+8T>A
|
rs2128675040
|
|
NM_004100.5(EYA4):c.970+9C>G
|
rs756408633
|
|
NM_004100.5(EYA4):c.971-2A>G
|
rs1562470903
|
|
NM_004100.5(EYA4):c.971-6C>T
|
rs369993979
|
|
NM_004100.5(EYA4):c.974A>C (p.Glu325Ala)
|
|
|
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu)
|
rs773095472
|
|
NM_004100.5(EYA4):c.978C>T (p.Phe326=)
|
rs773095472
|
|
NM_004100.5(EYA4):c.979G>C (p.Asp327His)
|
rs144415484
|
|
NM_004100.5(EYA4):c.983C>T (p.Thr328Ile)
|
rs897811426
|
|
NM_004100.5(EYA4):c.984C>A (p.Thr328=)
|
|
|
NM_004100.5(EYA4):c.984C>T (p.Thr328=)
|
rs1005575118
|
|
NM_004100.5(EYA4):c.985A>T (p.Met329Leu)
|
|
|
NM_004100.5(EYA4):c.98A>C (p.Gln33Pro)
|
|
|
NM_004100.5(EYA4):c.994C>T (p.Pro332Ser)
|
rs1583410927
|
|
NM_004100.5(EYA4):c.995C>T (p.Pro332Leu)
|
|
|