NM_175875.5(SIX5):c.1903C>T (p.Pro635Ser)
|
rs2014576
|
0.43324
|
NM_000503.6(EYA1):c.639+39T>G
|
rs3779747
|
0.39091
|
NM_000503.6(EYA1):c.1755T>C (p.His585=)
|
rs10103397
|
0.35033
|
NM_000503.6(EYA1):c.1699-23A>G
|
rs10090382
|
0.34966
|
NM_175875.5(SIX5):c.2077G>A (p.Val693Met)
|
rs2341097
|
0.33126
|
NM_001372066.1(TFAP2A):c.1032-44T>A
|
rs303048
|
0.31435
|
NM_000503.6(EYA1):c.1476-21G>T
|
rs3735935
|
0.30839
|
NM_000503.6(EYA1):c.1278C>T (p.Gly426=)
|
rs4738118
|
0.13734
|
NM_000503.6(EYA1):c.813A>G (p.Thr271=)
|
rs1445398
|
0.08547
|
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala)
|
rs1445404
|
0.05809
|
NM_000503.6(EYA1):c.556+18G>T
|
rs113694988
|
0.02938
|
NM_000503.6(EYA1):c.1597+18T>C
|
rs76259565
|
0.02609
|
NM_001372066.1(TFAP2A):c.889+73T>C
|
rs113027487
|
0.01394
|
NM_000503.6(EYA1):c.1699-3C>T
|
rs117149407
|
0.01158
|
NM_001372066.1(TFAP2A):c.826T>C (p.Leu276=)
|
rs35008125
|
0.00674
|
NM_175875.5(SIX5):c.375G>C (p.Pro125=)
|
rs147268086
|
0.00636
|
NM_175875.5(SIX5):c.1963C>T (p.Leu655=)
|
rs151072042
|
0.00312
|
NM_000503.6(EYA1):c.840C>A (p.Ile280=)
|
rs55972891
|
0.00286
|
NM_175875.5(SIX5):c.2173C>T (p.Leu725=)
|
rs112320524
|
0.00178
|
NM_000503.6(EYA1):c.1200-11C>A
|
rs181457812
|
0.00176
|
NM_000503.6(EYA1):c.321T>C (p.Ala107=)
|
rs112282055
|
0.00162
|
NM_000503.6(EYA1):c.744G>A (p.Thr248=)
|
rs10098224
|
0.00124
|
NM_175875.5(SIX5):c.1609+14C>T
|
rs200640688
|
0.00124
|
NM_000503.6(EYA1):c.1141-15T>G
|
rs186249248
|
0.00103
|
NM_000503.6(EYA1):c.1199+13G>T
|
rs200345478
|
0.00096
|
NM_175875.5(SIX5):c.549G>A (p.Val183=)
|
rs143904307
|
0.00083
|
NM_001372066.1(TFAP2A):c.579C>T (p.Ser193=)
|
rs143363077
|
0.00073
|
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)
|
rs139717960
|
0.00069
|
NM_000503.6(EYA1):c.782C>T (p.Pro261Leu)
|
rs77825059
|
0.00069
|
NM_000503.6(EYA1):c.648G>A (p.Pro216=)
|
rs148973681
|
0.00067
|
NM_001372066.1(TFAP2A):c.426C>T (p.Leu142=)
|
rs369051842
|
0.00067
|
NM_000503.6(EYA1):c.557-11T>A
|
rs201752432
|
0.00056
|
NM_175875.5(SIX5):c.1264C>T (p.Leu422=)
|
rs193244455
|
0.00052
|
NM_000503.6(EYA1):c.1699-8T>C
|
rs201537030
|
0.00048
|
NM_001372066.1(TFAP2A):c.924C>T (p.Tyr308=)
|
rs141711078
|
0.00046
|
NM_000503.6(EYA1):c.884T>C (p.Leu295Ser)
|
rs146687496
|
0.00041
|
NM_001372066.1(TFAP2A):c.141G>A (p.Leu47=)
|
rs149126243
|
0.00039
|
NM_005982.4(SIX1):c.615T>G (p.Pro205=)
|
rs148433316
|
0.00037
|
NM_000503.6(EYA1):c.35G>A (p.Arg12His)
|
rs74720958
|
0.00035
|
NM_000503.6(EYA1):c.966+4C>T
|
rs139429307
|
0.00032
|
NM_005982.4(SIX1):c.162G>A (p.Ala54=)
|
rs150550985
|
0.00031
|
NM_000503.6(EYA1):c.1734G>A (p.Ser578=)
|
rs770876882
|
0.00027
|
NM_000503.6(EYA1):c.164C>T (p.Thr55Met)
|
rs201434219
|
0.00023
|
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met)
|
rs80356464
|
0.00023
|
NM_175875.5(SIX5):c.472G>A (p.Ala158Thr)
|
rs80356461
|
0.00020
|
NM_000503.6(EYA1):c.*117G>A
|
rs886063087
|
0.00019
|
NM_175875.5(SIX5):c.543C>A (p.Gly181=)
|
rs372584912
|
0.00019
|
NM_001372066.1(TFAP2A):c.257C>T (p.Pro86Leu)
|
rs200131527
|
0.00018
|
NM_175875.5(SIX5):c.1462C>T (p.Pro488Ser)
|
rs200487992
|
0.00017
|
NM_000503.6(EYA1):c.1185C>T (p.Asn395=)
|
rs372488542
|
0.00016
|
NM_000503.6(EYA1):c.174C>T (p.Asp58=)
|
rs370509332
|
0.00014
|
NM_175875.5(SIX5):c.1042C>T (p.Leu348=)
|
rs779368770
|
0.00014
|
NM_175875.5(SIX5):c.492C>T (p.Tyr164=)
|
rs372293937
|
0.00014
|
NM_000503.6(EYA1):c.557-12A>G
|
rs373445545
|
0.00013
|
NM_000503.6(EYA1):c.783G>A (p.Pro261=)
|
rs146648560
|
0.00013
|
NM_175875.5(SIX5):c.1390A>T (p.Thr464Ser)
|
rs550402717
|
0.00012
|
NM_000503.6(EYA1):c.1032C>T (p.Tyr344=)
|
rs778091745
|
0.00011
|
NM_000503.6(EYA1):c.325T>C (p.Tyr109His)
|
rs141779040
|
0.00011
|
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
|
rs201504674
|
0.00011
|
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)
|
rs80356462
|
0.00009
|
NM_001372066.1(TFAP2A):c.1215C>T (p.Thr405=)
|
rs201494266
|
0.00008
|
NM_005982.4(SIX1):c.474C>T (p.Ala158=)
|
rs199743522
|
0.00008
|
NM_000503.6(EYA1):c.1377T>A (p.Ala459=)
|
rs112593082
|
0.00007
|
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln)
|
rs148647933
|
0.00007
|
NM_175875.5(SIX5):c.603C>T (p.Gly201=)
|
rs202164217
|
0.00007
|
NM_000503.6(EYA1):c.121G>A (p.Glu41Lys)
|
rs561111097
|
0.00006
|
NM_000503.6(EYA1):c.399G>A (p.Pro133=)
|
rs146356299
|
0.00006
|
NM_000503.6(EYA1):c.639+17G>C
|
rs199791692
|
0.00006
|
NM_000503.6(EYA1):c.671G>T (p.Gly224Val)
|
rs201509408
|
0.00006
|
NM_001372066.1(TFAP2A):c.51+20G>T
|
rs369679945
|
0.00006
|
NM_001372066.1(TFAP2A):c.714G>A (p.Arg238=)
|
rs761298686
|
0.00006
|
NM_175875.5(SIX5):c.1687C>T (p.Leu563Phe)
|
rs781343581
|
0.00006
|
NM_000503.6(EYA1):c.1530G>A (p.Ala510=)
|
rs147434089
|
0.00005
|
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu)
|
rs368351103
|
0.00005
|
NM_000503.6(EYA1):c.65G>A (p.Gly22Asp)
|
rs727503049
|
0.00005
|
NM_001372066.1(TFAP2A):c.474C>G (p.Ile158Met)
|
rs1295010353
|
0.00005
|
NM_001372066.1(TFAP2A):c.539-19C>T
|
rs375564449
|
0.00004
|
NM_005982.4(SIX1):c.816C>T (p.Leu272=)
|
rs750377629
|
0.00004
|
NM_175875.5(SIX5):c.15T>G (p.Pro5=)
|
rs1366167968
|
0.00004
|
NM_175875.5(SIX5):c.1802C>T (p.Pro601Leu)
|
rs768981892
|
0.00004
|
NM_000503.6(EYA1):c.112A>G (p.Asn38Asp)
|
rs765646278
|
0.00003
|
NM_000503.6(EYA1):c.125-13T>C
|
rs753263675
|
0.00003
|
NM_000503.6(EYA1):c.1318C>T (p.Arg440Trp)
|
rs376931849
|
0.00003
|
NM_000503.6(EYA1):c.1383G>A (p.Arg461=)
|
rs540131742
|
0.00003
|
NM_000503.6(EYA1):c.1426G>A (p.Asp476Asn)
|
rs371408686
|
0.00003
|
NM_000503.6(EYA1):c.1455A>C (p.Ala485=)
|
rs200008207
|
0.00003
|
NM_000503.6(EYA1):c.1523C>T (p.Ala508Val)
|
rs754901033
|
0.00003
|
NM_000503.6(EYA1):c.175G>A (p.Gly59Arg)
|
rs146216506
|
0.00003
|
NM_000503.6(EYA1):c.630T>C (p.Ser210=)
|
rs373102227
|
0.00003
|
NM_000503.6(EYA1):c.692A>G (p.Asn231Ser)
|
rs1563422226
|
0.00003
|
NM_000503.6(EYA1):c.910C>T (p.Arg304Cys)
|
rs772877702
|
0.00003
|
NM_174878.3(CLRN1):c.380C>G (p.Pro127Arg)
|
rs776997657
|
0.00003
|
NM_175875.5(SIX5):c.936C>T (p.Pro312=)
|
rs374751577
|
0.00003
|
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile)
|
rs727503048
|
0.00002
|
NM_000503.6(EYA1):c.1199+8C>T
|
rs770687311
|
0.00002
|
NM_000503.6(EYA1):c.1474C>T (p.Arg492Trp)
|
rs1226367549
|
0.00002
|
NM_000503.6(EYA1):c.26C>T (p.Pro9Leu)
|
rs766713665
|
0.00002
|
NM_000503.6(EYA1):c.34C>T (p.Arg12Cys)
|
rs530921368
|
0.00002
|
NM_000503.6(EYA1):c.49A>G (p.Ser17Gly)
|
rs747231434
|
0.00002
|
NM_000503.6(EYA1):c.639+14C>T
|
rs775548082
|
0.00002
|
NM_000503.6(EYA1):c.718A>G (p.Met240Val)
|
rs771549701
|
0.00002
|
NM_000503.6(EYA1):c.966+8A>G
|
rs190039495
|
0.00002
|
NM_001372066.1(TFAP2A):c.103A>G (p.Thr35Ala)
|
rs9368354
|
0.00002
|
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser)
|
rs139314808
|
0.00002
|
NM_005982.4(SIX1):c.465G>A (p.Arg155=)
|
rs748903952
|
0.00002
|
NM_175875.5(SIX5):c.108G>A (p.Leu36=)
|
rs532927547
|
0.00002
|
NM_175875.5(SIX5):c.1368C>T (p.Leu456=)
|
rs982154839
|
0.00002
|
NM_175875.5(SIX5):c.1876G>A (p.Ala626Thr)
|
rs751513858
|
0.00002
|
NM_175875.5(SIX5):c.915C>T (p.Phe305=)
|
rs370303254
|
0.00002
|
NM_000503.6(EYA1):c.-24G>T
|
rs759264949
|
0.00001
|
NM_000503.6(EYA1):c.1270G>A (p.Val424Ile)
|
rs746195192
|
0.00001
|
NM_000503.6(EYA1):c.1273C>T (p.Arg425Trp)
|
rs779423947
|
0.00001
|
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)
|
rs121909199
|
0.00001
|
NM_000503.6(EYA1):c.1387G>A (p.Ala463Thr)
|
rs1263352919
|
0.00001
|
NM_000503.6(EYA1):c.1454C>T (p.Ala485Val)
|
rs778970223
|
0.00001
|
NM_000503.6(EYA1):c.1597+8G>A
|
rs984704558
|
0.00001
|
NM_000503.6(EYA1):c.163A>G (p.Thr55Ala)
|
rs139194909
|
0.00001
|
NM_000503.6(EYA1):c.165G>A (p.Thr55=)
|
rs745425275
|
0.00001
|
NM_000503.6(EYA1):c.202+9T>C
|
rs755469377
|
0.00001
|
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter)
|
rs200164773
|
0.00001
|
NM_000503.6(EYA1):c.230G>A (p.Arg77Gln)
|
rs770356158
|
0.00001
|
NM_000503.6(EYA1):c.289A>G (p.Ile97Val)
|
rs1422583050
|
0.00001
|
NM_000503.6(EYA1):c.340T>C (p.Phe114Leu)
|
rs772521196
|
0.00001
|
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser)
|
rs747476629
|
0.00001
|
NM_000503.6(EYA1):c.491T>C (p.Leu164Pro)
|
rs1007684729
|
0.00001
|
NM_000503.6(EYA1):c.548A>G (p.Gln183Arg)
|
rs794727845
|
0.00001
|
NM_000503.6(EYA1):c.827-8T>A
|
rs1240727448
|
0.00001
|
NM_000503.6(EYA1):c.830A>G (p.Tyr277Cys)
|
rs374772533
|
0.00001
|
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln)
|
rs369822742
|
0.00001
|
NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg)
|
rs80356463
|
0.00001
|
NM_175875.5(SIX5):c.1261G>A (p.Val421Ile)
|
rs1057519372
|
0.00001
|
NM_175875.5(SIX5):c.1629C>T (p.Asn543=)
|
rs768534722
|
0.00001
|
NM_175875.5(SIX5):c.258C>G (p.Phe86Leu)
|
rs950267055
|
0.00001
|
NM_175875.5(SIX5):c.945C>G (p.Cys315Trp)
|
rs1444936221
|
0.00001
|
NC_000006.12:g.(?_10398710)_(10415642_?)del
|
|
|
NC_000008.10:g.(?_72111575)_(72246429_?)del
|
|
|
NC_000008.10:g.(?_72111575)_(72267140_?)del
|
|
|
NC_000008.10:g.(?_72123371)_(72123511_?)del
|
|
|
NC_000008.11:g.(?_71199320)_(71356506_?)del
|
|
|
NC_000008.11:g.(?_71244583)_(71244712_?)del
|
|
|
NC_000008.11:g.(?_71244583)_(71322288_?)del
|
|
|
NC_000008.11:g.(?_71269720)_(71269843_?)del
|
|
|
NC_000008.11:g.(?_71269720)_(71271917_?)del
|
|
|
NG_011735.4:g.308479_308480insAlu308464_308481dup
|
|
|
NM_000503.5(EYA1):c.557del
|
rs1819990660
|
|
NM_000503.6(EYA1):c.1009C>T (p.His337Tyr)
|
|
|
NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs)
|
rs1554615536
|
|
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter)
|
rs1554615511
|
|
NM_000503.6(EYA1):c.1050+1G>T
|
rs1816289467
|
|
NM_000503.6(EYA1):c.1050+20A>C
|
|
|
NM_000503.6(EYA1):c.1050+4A>G
|
|
|
NM_000503.6(EYA1):c.1051-12T>G
|
rs2128904625
|
|
NM_000503.6(EYA1):c.1051-18G>A
|
|
|
NM_000503.6(EYA1):c.1051-2A>G
|
rs2128904613
|
|
NM_000503.6(EYA1):c.1051-5T>G
|
rs2128904621
|
|
NM_000503.6(EYA1):c.1080G>T (p.Leu360=)
|
|
|
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)
|
rs121909202
|
|
NM_000503.6(EYA1):c.1082G>C (p.Arg361Pro)
|
|
|
NM_000503.6(EYA1):c.1084del (p.Met362fs)
|
|
|
NM_000503.6(EYA1):c.113A>G (p.Asn38Ser)
|
|
|
NM_000503.6(EYA1):c.1140+11A>T
|
rs759981657
|
|
NM_000503.6(EYA1):c.1140+1G>T
|
rs1812855196
|
|
NM_000503.6(EYA1):c.1140+4A>C
|
|
|
NM_000503.6(EYA1):c.1140+4_1140+7del
|
rs1554605968
|
|
NM_000503.6(EYA1):c.1140+5G>A
|
rs1812854875
|
|
NM_000503.6(EYA1):c.1155C>A (p.Val385=)
|
|
|
NM_000503.6(EYA1):c.1169T>C (p.Val390Ala)
|
|
|
NM_000503.6(EYA1):c.1182dup (p.Asn395Ter)
|
rs2128854678
|
|
NM_000503.6(EYA1):c.1186G>A (p.Gly396Arg)
|
rs727503047
|
|
NM_000503.6(EYA1):c.1186G>T (p.Gly396Ter)
|
rs727503047
|
|
NM_000503.6(EYA1):c.1190A>G (p.Gln397Arg)
|
|
|
NM_000503.6(EYA1):c.1198A>G (p.Ser400Gly)
|
rs1809290834
|
|
NM_000503.6(EYA1):c.1199+12T>C
|
|
|
NM_000503.6(EYA1):c.1199+2T>A
|
rs2128854556
|
|
NM_000503.6(EYA1):c.1200-1G>A
|
rs1563634200
|
|
NM_000503.6(EYA1):c.1206T>C (p.Tyr402=)
|
|
|
NM_000503.6(EYA1):c.1217C>G (p.Thr406Arg)
|
|
|
NM_000503.6(EYA1):c.121G>C (p.Glu41Gln)
|
rs561111097
|
|
NM_000503.6(EYA1):c.1223G>A (p.Gly408Asp)
|
|
|
NM_000503.6(EYA1):c.1236dup (p.Ala413fs)
|
rs2128854105
|
|
NM_000503.6(EYA1):c.1246G>A (p.Ala416Thr)
|
|
|
NM_000503.6(EYA1):c.1248dup (p.Asn417Ter)
|
|
|
NM_000503.6(EYA1):c.1259del (p.Leu420fs)
|
rs1809266780
|
|
NM_000503.6(EYA1):c.1264A>C (p.Thr422Pro)
|
|
|
NM_000503.6(EYA1):c.1272dup (p.Arg425fs)
|
rs2128854024
|
|
NM_000503.6(EYA1):c.1273C>G (p.Arg425Gly)
|
|
|
NM_000503.6(EYA1):c.128A>C (p.Lys43Thr)
|
|
|
NM_000503.6(EYA1):c.1309C>T (p.Arg437Cys)
|
|
|
NM_000503.6(EYA1):c.1313A>G (p.Tyr438Cys)
|
|
|
NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe)
|
rs1374801818
|
|
NM_000503.6(EYA1):c.1315del (p.Arg439fs)
|
rs2128853840
|
|
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)
|
rs121909196
|
|
NM_000503.6(EYA1):c.1323A>C (p.Val441=)
|
|
|
NM_000503.6(EYA1):c.1325A>G (p.Lys442Arg)
|
rs2128853814
|
|
NM_000503.6(EYA1):c.1325_1326del (p.Lys442fs)
|
rs2128853806
|
|
NM_000503.6(EYA1):c.1329_1330del (p.Glu443fs)
|
rs1554596461
|
|
NM_000503.6(EYA1):c.1350delinsCC (p.Asn451fs)
|
|
|
NM_000503.6(EYA1):c.1354_1355del (p.Val452fs)
|
rs1585817892
|
|
NM_000503.6(EYA1):c.1360+5G>A
|
|
|
NM_000503.6(EYA1):c.1361-1G>A
|
rs397517917
|
|
NM_000503.6(EYA1):c.1361-2A>G
|
rs2128851194
|
|
NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs)
|
rs1585812463
|
|
NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter)
|
rs1475718221
|
|
NM_000503.6(EYA1):c.1445C>T (p.Ala482Val)
|
|
|
NM_000503.6(EYA1):c.1448T>C (p.Leu483Pro)
|
|
|
NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro)
|
rs121909200
|
|
NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter)
|
rs139717960
|
|
NM_000503.6(EYA1):c.1461G>A (p.Ser487=)
|
|
|
NM_000503.6(EYA1):c.1468C>G (p.His490Asp)
|
rs748575456
|
|
NM_000503.6(EYA1):c.1475+10T>A
|
|
|
NM_000503.6(EYA1):c.1475+15G>A
|
rs373917012
|
|
NM_000503.6(EYA1):c.1475+15G>T
|
rs373917012
|
|
NM_000503.6(EYA1):c.1475+1G>C
|
rs727503042
|
|
NM_000503.6(EYA1):c.1475+6del
|
|
|
NM_000503.6(EYA1):c.1475G>A (p.Arg492Gln)
|
rs2128850745
|
|
NM_000503.6(EYA1):c.1476-2A>T
|
rs2128850357
|
|
NM_000503.6(EYA1):c.147C>T (p.Ser49=)
|
|
|
NM_000503.6(EYA1):c.1487_1488del (p.Val496fs)
|
rs2128850318
|
|
NM_000503.6(EYA1):c.1488G>A (p.Val496=)
|
|
|
NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg)
|
rs121909201
|
|
NM_000503.6(EYA1):c.1525T>A (p.Leu509Met)
|
|
|
NM_000503.6(EYA1):c.1545T>A (p.Tyr515Ter)
|
|
|
NM_000503.6(EYA1):c.1570_1571insTA (p.Glu524fs)
|
|
|
NM_000503.6(EYA1):c.1577T>G (p.Ile526Ser)
|
|
|
NM_000503.6(EYA1):c.158C>T (p.Ala53Val)
|
|
|
NM_000503.6(EYA1):c.1597+1G>A
|
rs1563630117
|
|
NM_000503.6(EYA1):c.1597+1G>T
|
|
|
NM_000503.6(EYA1):c.1598-15A>G
|
rs372286227
|
|
NM_000503.6(EYA1):c.1598-19ATTT[3]
|
|
|
NM_000503.6(EYA1):c.1598-1G>C
|
|
|
NM_000503.6(EYA1):c.1598-2A>G
|
rs1808471410
|
|
NM_000503.6(EYA1):c.1609T>C (p.Cys537Arg)
|
rs1554594182
|
|
NM_000503.6(EYA1):c.1611T>A (p.Cys537Ter)
|
|
|
NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter)
|
rs1060499603
|
|
NM_000503.6(EYA1):c.1618A>G (p.Arg540Gly)
|
|
|
NM_000503.6(EYA1):c.1619_1620del (p.Arg540fs)
|
rs2128835431
|
|
NM_000503.6(EYA1):c.1627C>T (p.Gln543Ter)
|
|
|
NM_000503.6(EYA1):c.1635del (p.Phe545fs)
|
rs1808464696
|
|
NM_000503.6(EYA1):c.1644del (p.Val549fs)
|
rs2128835339
|
|
NM_000503.6(EYA1):c.1654GTT[1] (p.Val553del)
|
rs1563621870
|
|
NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter)
|
rs1481254965
|
|
NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs)
|
rs606231355
|
|
NM_000503.6(EYA1):c.1698+1G>T
|
rs530147851
|
|
NM_000503.6(EYA1):c.1701del (p.His567fs)
|
|
|
NM_000503.6(EYA1):c.1704G>A (p.Ala568=)
|
|
|
NM_000503.6(EYA1):c.1717A>G (p.Arg573Gly)
|
rs775343638
|
|
NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg)
|
rs1585717154
|
|
NM_000503.6(EYA1):c.1743_1752dup (p.His585fs)
|
|
|
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)
|
rs397517920
|
|
NM_000503.6(EYA1):c.1771dup (p.Tyr591fs)
|
|
|
NM_000503.6(EYA1):c.202+8A>T
|
|
|
NM_000503.6(EYA1):c.203-16T>G
|
rs1342337171
|
|
NM_000503.6(EYA1):c.206T>C (p.Ile69Thr)
|
|
|
NM_000503.6(EYA1):c.218G>A (p.Ser73Asn)
|
|
|
NM_000503.6(EYA1):c.235A>G (p.Thr79Ala)
|
rs1554550645
|
|
NM_000503.6(EYA1):c.248C>G (p.Ser83Cys)
|
rs748482012
|
|
NM_000503.6(EYA1):c.255A>G (p.Pro85=)
|
|
|
NM_000503.6(EYA1):c.272+13T>G
|
|
|
NM_000503.6(EYA1):c.272+13_272+14insTA
|
|
|
NM_000503.6(EYA1):c.272+15C>A
|
|
|
NM_000503.6(EYA1):c.272+17del
|
|
|
NM_000503.6(EYA1):c.272+9_272+10insTTTATT
|
|
|
NM_000503.6(EYA1):c.273-10T>G
|
|
|
NM_000503.6(EYA1):c.273-18G>T
|
|
|
NM_000503.6(EYA1):c.273-20C>T
|
|
|
NM_000503.6(EYA1):c.273-3T>C
|
rs2129031680
|
|
NM_000503.6(EYA1):c.27G>A (p.Pro9=)
|
rs763352962
|
|
NM_000503.6(EYA1):c.296C>T (p.Pro99Leu)
|
|
|
NM_000503.6(EYA1):c.355C>T (p.Gln119Ter)
|
rs2129031508
|
|
NM_000503.6(EYA1):c.384A>G (p.Pro128=)
|
|
|
NM_000503.6(EYA1):c.402C>G (p.Tyr134Ter)
|
|
|
NM_000503.6(EYA1):c.402C>T (p.Tyr134=)
|
|
|
NM_000503.6(EYA1):c.411C>G (p.Ser137=)
|
|
|
NM_000503.6(EYA1):c.417T>C (p.Tyr139=)
|
|
|
NM_000503.6(EYA1):c.418+10C>G
|
|
|
NM_000503.6(EYA1):c.418+10C>T
|
|
|
NM_000503.6(EYA1):c.418+11T>G
|
|
|
NM_000503.6(EYA1):c.418+15A>G
|
|
|
NM_000503.6(EYA1):c.418+3G>C
|
rs1554550269
|
|
NM_000503.6(EYA1):c.418+5G>A
|
|
|
NM_000503.6(EYA1):c.419-2A>G
|
|
|
NM_000503.6(EYA1):c.419-5T>C
|
|
|
NM_000503.6(EYA1):c.436A>G (p.Ile146Val)
|
|
|
NM_000503.6(EYA1):c.466C>T (p.Gln156Ter)
|
rs1822069596
|
|
NM_000503.6(EYA1):c.470C>A (p.Ser157Ter)
|
rs1586333305
|
|
NM_000503.6(EYA1):c.489dup (p.Leu164fs)
|
|
|
NM_000503.6(EYA1):c.490dup (p.Leu164fs)
|
rs2129025227
|
|
NM_000503.6(EYA1):c.515C>T (p.Thr172Ile)
|
|
|
NM_000503.6(EYA1):c.520C>T (p.Gln174Ter)
|
|
|
NM_000503.6(EYA1):c.532del (p.Ala178fs)
|
rs1554548840
|
|
NM_000503.6(EYA1):c.557-1G>A
|
|
|
NM_000503.6(EYA1):c.56C>G (p.Ser19Cys)
|
rs2129069830
|
|
NM_000503.6(EYA1):c.585A>G (p.Ile195Met)
|
|
|
NM_000503.6(EYA1):c.602C>G (p.Ser201Ter)
|
rs1563423589
|
|
NM_000503.6(EYA1):c.637C>T (p.Gln213Ter)
|
rs2129000663
|
|
NM_000503.6(EYA1):c.639+1G>A
|
rs869025180
|
|
NM_000503.6(EYA1):c.639+20T>C
|
|
|
NM_000503.6(EYA1):c.640-14G>A
|
|
|
NM_000503.6(EYA1):c.640-15G>A
|
rs2129000122
|
|
NM_000503.6(EYA1):c.640-15_698del
|
rs1554541834
|
|
NM_000503.6(EYA1):c.640-16T>C
|
|
|
NM_000503.6(EYA1):c.647C>T (p.Pro216Leu)
|
|
|
NM_000503.6(EYA1):c.654T>G (p.Tyr218Ter)
|
rs2129000083
|
|
NM_000503.6(EYA1):c.664G>T (p.Gly222Cys)
|
|
|
NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter)
|
rs529483320
|
|
NM_000503.6(EYA1):c.678C>G (p.Tyr226Ter)
|
|
|
NM_000503.6(EYA1):c.679G>A (p.Ala227Thr)
|
|
|
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter)
|
rs1563422304
|
|
NM_000503.6(EYA1):c.684G>A (p.Gln228=)
|
|
|
NM_000503.6(EYA1):c.689A>G (p.Tyr230Cys)
|
|
|
NM_000503.6(EYA1):c.702G>A (p.Pro234=)
|
|
|
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs)
|
rs1586244371
|
|
NM_000503.6(EYA1):c.755C>T (p.Thr252Ile)
|
|
|
NM_000503.6(EYA1):c.75C>T (p.Leu25=)
|
|
|
NM_000503.6(EYA1):c.76G>A (p.Gly26Ser)
|
|
|
NM_000503.6(EYA1):c.775C>T (p.Gln259Ter)
|
rs2128999627
|
|
NM_000503.6(EYA1):c.782del (p.Pro261fs)
|
rs2128999606
|
|
NM_000503.6(EYA1):c.783G>T (p.Pro261=)
|
|
|
NM_000503.6(EYA1):c.799A>G (p.Ser267Gly)
|
|
|
NM_000503.6(EYA1):c.806C>A (p.Ala269Glu)
|
|
|
NM_000503.6(EYA1):c.806del (p.Ala269fs)
|
rs1819903817
|
|
NM_000503.6(EYA1):c.811A>T (p.Thr271Ser)
|
|
|
NM_000503.6(EYA1):c.826+1G>A
|
|
|
NM_000503.6(EYA1):c.827-20T>C
|
|
|
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter)
|
rs1816578250
|
|
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter)
|
rs1131691667
|
|
NM_000503.6(EYA1):c.8T>G (p.Met3Arg)
|
|
|
NM_000503.6(EYA1):c.906A>T (p.Lys302Asn)
|
|
|
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)
|
rs121909195
|
|
NM_000503.6(EYA1):c.922dup (p.Arg308fs)
|
|
|
NM_000503.6(EYA1):c.929del (p.Asn310fs)
|
rs1816566795
|
|
NM_000503.6(EYA1):c.950del (p.Pro317fs)
|
|
|
NM_000503.6(EYA1):c.966+14A>G
|
|
|
NM_000503.6(EYA1):c.966+1G>C
|
rs2128951565
|
|
NM_000503.6(EYA1):c.966+4C>G
|
|
|
NM_000503.6(EYA1):c.966+5G>A
|
rs606231357
|
|
NM_000503.6(EYA1):c.966+5G>C
|
rs606231357
|
|
NM_000503.6(EYA1):c.979T>C (p.Trp327Arg)
|
rs2128948223
|
|
NM_000503.6(EYA1):c.981G>A (p.Trp327Ter)
|
|
|
NM_000503.6(EYA1):c.988G>T (p.Asp330Tyr)
|
rs1586100993
|
|
NM_001372066.1(TFAP2A):c.1039T>C (p.Cys347Arg)
|
rs1761890567
|
|
NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)
|
rs1554110735
|
|
NM_001372066.1(TFAP2A):c.1320A>G (p.Ter440Trp)
|
rs1554110673
|
|
NM_001372066.1(TFAP2A):c.15G>A (p.Trp5Ter)
|
rs2113228864
|
|
NM_001372066.1(TFAP2A):c.220C>A (p.Pro74Thr)
|
|
|
NM_001372066.1(TFAP2A):c.407_413dup (p.Pro139fs)
|
rs1554112492
|
|
NM_001372066.1(TFAP2A):c.481del (p.Val161fs)
|
|
|
NM_001372066.1(TFAP2A):c.486+1G>T
|
|
|
NM_001372066.1(TFAP2A):c.493G>C (p.Glu165Gln)
|
rs1581265556
|
|
NM_001372066.1(TFAP2A):c.581C>T (p.Ala194Val)
|
rs2114014890
|
|
NM_001372066.1(TFAP2A):c.647T>A (p.Val216Asp)
|
rs793888541
|
|
NM_001372066.1(TFAP2A):c.655C>A (p.Arg219Ser)
|
rs793888540
|
|
NM_001372066.1(TFAP2A):c.660C>T (p.Leu220=)
|
rs369302647
|
|
NM_001372066.1(TFAP2A):c.687C>G (p.Tyr229Ter)
|
rs2114014460
|
|
NM_001372066.1(TFAP2A):c.703G>A (p.Glu235Lys)
|
rs1554111751
|
|
NM_001372066.1(TFAP2A):c.703_714del (p.Glu235_Arg238del)
|
|
|
NM_001372066.1(TFAP2A):c.712C>T (p.Arg238Trp)
|
rs1554111749
|
|
NM_001372066.1(TFAP2A):c.716G>A (p.Arg239Gln)
|
rs151344525
|
|
NM_001372066.1(TFAP2A):c.716G>C (p.Arg239Pro)
|
rs151344525
|
|
NM_001372066.1(TFAP2A):c.719T>C (p.Leu240Pro)
|
rs1554111734
|
|
NM_001372066.1(TFAP2A):c.730G>A (p.Glu244Lys)
|
rs151344526
|
|
NM_001372066.1(TFAP2A):c.739A>G (p.Asn247Asp)
|
rs2114014223
|
|
NM_001372066.1(TFAP2A):c.742G>A (p.Ala248Thr)
|
|
|
NM_001372066.1(TFAP2A):c.747G>A (p.Ser249=)
|
rs1372051364
|
|
NM_001372066.1(TFAP2A):c.752T>C (p.Leu251Pro)
|
rs1581262652
|
|
NM_001372066.1(TFAP2A):c.754G>T (p.Gly252Cys)
|
|
|
NM_001372066.1(TFAP2A):c.755G>A (p.Gly252Asp)
|
rs1554111717
|
|
NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu)
|
rs151344527
|
|
NM_001372066.1(TFAP2A):c.766C>G (p.Arg256Gly)
|
rs151344528
|
|
NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp)
|
rs151344528
|
|
NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln)
|
rs151344530
|
|
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)
|
rs121909574
|
|
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val)
|
rs151344531
|
|
NM_001372066.1(TFAP2A):c.791G>A (p.Gly264Glu)
|
rs121909575
|
|
NM_001372066.1(TFAP2A):c.820A>G (p.Ile274Val)
|
rs1762050441
|
|
NM_001372066.1(TFAP2A):c.832_848delinsAGGAT (p.Leu278_Arg283delinsArgIle)
|
|
|
NM_001372066.1(TFAP2A):c.835_836del (p.Pro279fs)
|
|
|
NM_001372066.1(TFAP2A):c.860A>G (p.Asn287Ser)
|
rs1021266565
|
|
NM_001372066.1(TFAP2A):c.889+2dup
|
rs1762047599
|
|
NM_001372066.1(TFAP2A):c.892G>A (p.Glu298Lys)
|
rs267607108
|
|
NM_001372066.1(TFAP2A):c.895G>C (p.Ala299Pro)
|
rs1554110994
|
|
NM_001372066.1(TFAP2A):c.94C>T (p.Gln32Ter)
|
rs1757903817
|
|
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)
|
rs104894478
|
|
NM_005982.4(SIX1):c.500A>G (p.Gln167Arg)
|
|
|
NM_175875.5(SIX5):c.1023C>T (p.Gly341=)
|
rs780345670
|
|
NM_175875.5(SIX5):c.1069G>A (p.Gly357Ser)
|
|
|
NM_175875.5(SIX5):c.1665C>T (p.Ala555=)
|
|
|
NM_175875.5(SIX5):c.1666C>G (p.Leu556Val)
|
rs2014377
|
|
NM_175875.5(SIX5):c.1773G>T (p.Thr591=)
|
rs138916954
|
|
NM_175875.5(SIX5):c.1852T>C (p.Ser618Pro)
|
rs1600396951
|
|
NM_175875.5(SIX5):c.503G>A (p.Arg168His)
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NM_175875.5(SIX5):c.931C>T (p.Pro311Ser)
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