NM_000503.6(EYA1):c.*1581G>A
|
rs9298163
|
0.97552
|
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_000503.6(EYA1):c.1699-84C>G
|
rs10103852
|
0.34874
|
NM_000503.6(EYA1):c.1597+59C>T
|
rs7846086
|
0.30943
|
NM_000503.6(EYA1):c.1476-21G>T
|
rs3735935
|
0.30839
|
NM_000503.6(EYA1):c.1360+53C>T
|
rs4737312
|
0.29944
|
NM_000503.6(EYA1):c.-4-297T>C
|
rs1838621
|
0.27665
|
NM_000503.6(EYA1):c.418+225T>C
|
rs7008755
|
0.26477
|
NM_000503.6(EYA1):c.1050+113G>A
|
rs2053664
|
0.26106
|
NM_000503.6(EYA1):c.*1324T>C
|
rs56115941
|
0.22152
|
NM_000503.6(EYA1):c.1699-55G>A
|
rs10103644
|
0.20964
|
NM_000503.6(EYA1):c.1278C>T (p.Gly426=)
|
rs4738118
|
0.13734
|
NM_000503.6(EYA1):c.1597+60G>A
|
rs79867447
|
0.12646
|
NM_000503.6(EYA1):c.125-169T>C
|
rs7840881
|
0.11230
|
NM_000503.6(EYA1):c.557-226T>C
|
rs9657098
|
0.10496
|
NM_000503.6(EYA1):c.1050+107A>G
|
rs76660214
|
0.09160
|
NM_000503.6(EYA1):c.813A>G (p.Thr271=)
|
rs1445398
|
0.08547
|
NM_000503.6(EYA1):c.125-258A>G
|
rs7824978
|
0.08465
|
NM_000503.6(EYA1):c.*800T>C
|
rs74862574
|
0.07544
|
NM_000503.6(EYA1):c.826+244C>G
|
rs13278037
|
0.06965
|
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala)
|
rs1445404
|
0.05809
|
NM_000503.6(EYA1):c.1698+133A>G
|
rs76599768
|
0.03939
|
NM_000503.6(EYA1):c.1698+344C>T
|
rs79178549
|
0.03606
|
NM_000503.6(EYA1):c.827-104A>G
|
rs111229114
|
0.03337
|
NM_000503.6(EYA1):c.556+18G>T
|
rs113694988
|
0.02938
|
NM_000503.6(EYA1):c.418+102C>T
|
rs75142065
|
0.02732
|
NM_000503.6(EYA1):c.419-273A>G
|
rs79359169
|
0.02695
|
NM_000503.6(EYA1):c.1597+18T>C
|
rs76259565
|
0.02609
|
NM_000503.6(EYA1):c.-271G>A
|
rs73684755
|
0.02116
|
NM_000503.6(EYA1):c.557-54C>T
|
rs74879112
|
0.01902
|
NM_000503.6(EYA1):c.124+198A>C
|
rs77946035
|
0.01859
|
NM_000503.6(EYA1):c.125-31C>T
|
rs113812295
|
0.01842
|
NM_000503.6(EYA1):c.1050+28A>C
|
rs7835813
|
0.01721
|
NM_000503.6(EYA1):c.*1222A>C
|
rs117394899
|
0.01315
|
NM_000503.6(EYA1):c.1699-3C>T
|
rs117149407
|
0.01158
|
NM_000503.6(EYA1):c.-4-284C>G
|
rs76548836
|
0.01018
|
NM_000503.6(EYA1):c.*705G>T
|
rs79700717
|
0.00975
|
NM_000503.6(EYA1):c.124+225A>G
|
rs118159749
|
0.00764
|
NM_000503.6(EYA1):c.1361-267C>T
|
rs75160077
|
0.00641
|
NM_000503.6(EYA1):c.-191C>G
|
rs55694100
|
0.00629
|
NM_000503.6(EYA1):c.*102T>G
|
rs139109847
|
0.00616
|
NM_000503.6(EYA1):c.418+34C>T
|
rs113993220
|
0.00561
|
NM_000503.6(EYA1):c.1140+69A>G
|
rs112153708
|
0.00525
|
NM_000503.6(EYA1):c.*1263C>T
|
rs140308724
|
0.00454
|
NM_000503.6(EYA1):c.*353C>T
|
rs151172668
|
0.00432
|
NM_000503.6(EYA1):c.-54-314A>G
|
rs12115159
|
0.00374
|
NM_000503.6(EYA1):c.966+250A>G
|
rs73684736
|
0.00342
|
NM_000503.5(EYA1):c.*1914T>G
|
rs112480709
|
0.00323
|
NM_000503.6(EYA1):c.*784T>C
|
rs77243350
|
0.00322
|
NM_000503.6(EYA1):c.840C>A (p.Ile280=)
|
rs55972891
|
0.00286
|
NM_000503.6(EYA1):c.557-28A>G
|
rs189521186
|
0.00262
|
NM_000503.6(EYA1):c.1200-11C>A
|
rs181457812
|
0.00176
|
NM_000503.6(EYA1):c.*429T>C
|
rs192602787
|
0.00165
|
NM_000503.6(EYA1):c.321T>C (p.Ala107=)
|
rs112282055
|
0.00162
|
NM_000503.6(EYA1):c.-173G>T
|
rs886063091
|
0.00152
|
NM_000503.6(EYA1):c.744G>A (p.Thr248=)
|
rs10098224
|
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_000503.6(EYA1):c.*23G>A
|
rs373876510
|
0.00086
|
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_000503.6(EYA1):c.1050+66T>G
|
rs2305096
|
0.00058
|
NM_000503.6(EYA1):c.557-11T>A
|
rs201752432
|
0.00056
|
NM_000503.6(EYA1):c.*1672T>A
|
rs777991930
|
0.00055
|
NM_000503.6(EYA1):c.*86C>A
|
rs186838732
|
0.00055
|
NM_000503.6(EYA1):c.1699-8T>C
|
rs201537030
|
0.00048
|
NM_000503.6(EYA1):c.884T>C (p.Leu295Ser)
|
rs146687496
|
0.00041
|
NM_000503.6(EYA1):c.35G>A (p.Arg12His)
|
rs74720958
|
0.00035
|
NM_000503.6(EYA1):c.966+4C>T
|
rs139429307
|
0.00032
|
NM_000503.6(EYA1):c.1734G>A (p.Ser578=)
|
rs770876882
|
0.00027
|
NM_000503.6(EYA1):c.*848G>A
|
rs775498240
|
0.00023
|
NM_000503.6(EYA1):c.164C>T (p.Thr55Met)
|
rs201434219
|
0.00023
|
NM_000503.6(EYA1):c.*1543T>G
|
rs867228117
|
0.00022
|
NM_000503.6(EYA1):c.*117G>A
|
rs886063087
|
0.00019
|
NM_000503.6(EYA1):c.*9G>A
|
rs370353759
|
0.00019
|
NM_000503.6(EYA1):c.*1275G>A
|
rs192113669
|
0.00017
|
NM_000503.6(EYA1):c.1185C>T (p.Asn395=)
|
rs372488542
|
0.00016
|
NM_000503.6(EYA1):c.*104C>T
|
rs545764396
|
0.00014
|
NM_000503.6(EYA1):c.174C>T (p.Asp58=)
|
rs370509332
|
0.00014
|
NM_000503.6(EYA1):c.887G>A (p.Arg296His)
|
rs181191349
|
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_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_000503.6(EYA1):c.*1284C>A
|
rs867048052
|
0.00010
|
NM_000503.6(EYA1):c.*442G>A
|
rs767388665
|
0.00010
|
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_000503.6(EYA1):c.*1391G>A
|
rs543035675
|
0.00006
|
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_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.299C>A (p.Thr100Asn)
|
rs373501480
|
0.00005
|
NM_000503.6(EYA1):c.65G>A (p.Gly22Asp)
|
rs727503049
|
0.00005
|
NM_000503.6(EYA1):c.*1229G>A
|
rs769460553
|
0.00004
|
NM_000503.6(EYA1):c.*1561A>G
|
rs1042576113
|
0.00004
|
NM_000503.6(EYA1):c.*545C>T
|
rs886063086
|
0.00004
|
NM_000503.6(EYA1):c.419-10A>G
|
rs371502049
|
0.00004
|
NM_000503.6(EYA1):c.678C>T (p.Tyr226=)
|
rs529483320
|
0.00004
|
NM_000503.6(EYA1):c.*1890A>G
|
rs377092983
|
0.00003
|
NM_000503.6(EYA1):c.*556A>G
|
rs553030149
|
0.00003
|
NM_000503.6(EYA1):c.-188C>T
|
rs1045608759
|
0.00003
|
NM_000503.6(EYA1):c.-49A>G
|
rs773963094
|
0.00003
|
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.1425C>T (p.Thr475=)
|
rs727503043
|
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.743C>T (p.Thr248Met)
|
rs186736708
|
0.00003
|
NM_000503.6(EYA1):c.910C>T (p.Arg304Cys)
|
rs772877702
|
0.00003
|
NM_000503.6(EYA1):c.*1529C>T
|
rs779384590
|
0.00002
|
NM_000503.6(EYA1):c.*866C>T
|
rs979538866
|
0.00002
|
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.287A>G (p.His96Arg)
|
rs377434964
|
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.724A>G (p.Ser242Gly)
|
rs191838840
|
0.00002
|
NM_000503.6(EYA1):c.966+8A>G
|
rs190039495
|
0.00002
|
NM_000503.6(EYA1):c.*1297A>G
|
rs1806462036
|
0.00001
|
NM_000503.6(EYA1):c.*1598A>C
|
rs886063084
|
0.00001
|
NM_000503.6(EYA1):c.*70G>A
|
rs938004211
|
0.00001
|
NM_000503.6(EYA1):c.-24G>T
|
rs759264949
|
0.00001
|
NM_000503.6(EYA1):c.-429G>A
|
rs886063094
|
0.00001
|
NM_000503.6(EYA1):c.-454G>A
|
rs569684779
|
0.00001
|
NM_000503.6(EYA1):c.1026G>A (p.Gly342=)
|
rs1195003159
|
0.00001
|
NM_000503.6(EYA1):c.1224C>T (p.Gly408=)
|
rs1809269824
|
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.1464C>T (p.Leu488=)
|
rs770264648
|
0.00001
|
NM_000503.6(EYA1):c.1483T>A (p.Cys495Ser)
|
rs1563630587
|
0.00001
|
NM_000503.6(EYA1):c.1509T>C (p.Thr503=)
|
rs371495884
|
0.00001
|
NM_000503.6(EYA1):c.1597+8G>A
|
rs984704558
|
0.00001
|
NM_000503.6(EYA1):c.159T>C (p.Ala53=)
|
rs768443449
|
0.00001
|
NM_000503.6(EYA1):c.1621A>G (p.Ile541Val)
|
rs753553594
|
0.00001
|
NM_000503.6(EYA1):c.163A>G (p.Thr55Ala)
|
rs139194909
|
0.00001
|
NM_000503.6(EYA1):c.1659T>C (p.Val553=)
|
rs774427621
|
0.00001
|
NM_000503.6(EYA1):c.165G>A (p.Thr55=)
|
rs745425275
|
0.00001
|
NM_000503.6(EYA1):c.196G>T (p.Gly66Cys)
|
rs886063089
|
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.378G>A (p.Thr126=)
|
rs766288763
|
0.00001
|
NM_000503.6(EYA1):c.398C>T (p.Pro133Leu)
|
rs138234228
|
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.556+5G>C
|
rs886063088
|
0.00001
|
NM_000503.6(EYA1):c.640-4G>C
|
rs757754363
|
0.00001
|
NM_000503.6(EYA1):c.701C>T (p.Pro234Leu)
|
rs761632944
|
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
|
GRCh37/hg19 8q13.3(chr8:71676769-72133898)x3
|
|
|
GRCh37/hg19 8q13.3(chr8:71816154-72197709)x1
|
|
|
GRCh37/hg19 8q13.3(chr8:72190320-72205191)x1
|
|
|
GRCh37/hg19 8q13.3(chr8:72201726-72213290)x3
|
|
|
GRCh37/hg19 8q13.3(chr8:72201726-72214222)x3
|
|
|
GRCh37/hg19 8q13.3(chr8:72201726-72217690)x3
|
|
|
GRCh37/hg19 8q13.3(chr8:72202074-72217690)x3
|
|
|
GRCh37/hg19 8q13.3(chr8:72202625-72217665)x3
|
|
|
GRCh37/hg19 8q13.3(chr8:72202968-72217690)x3
|
|
|
GRCh37/hg19 8q13.3(chr8:72204125-72217690)x3
|
|
|
GRCh37/hg19 8q13.3(chr8:72211178-72217690)x1
|
|
|
GRCh37/hg19 8q13.3(chr8:72211317-72226125)x1
|
|
|
GRCh37/hg19 8q13.3(chr8:72214786-72225252)x0
|
|
|
GRCh37/hg19 8q13.3(chr8:72214786-72225345)x1
|
|
|
GRCh37/hg19 8q13.3(chr8:72259845-72272544)x3
|
|
|
GRCh37/hg19 8q13.3(chr8:72259845-72280705)x3
|
|
|
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.(?_71244583)_(71244712_?)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.-508A>G
|
rs886063095
|
|
NM_000503.5(EYA1):c.-564_-563delAG
|
rs886063096
|
|
NM_000503.5(EYA1):c.-588_-587delAA
|
rs35320129
|
|
NM_000503.5(EYA1):c.-588_-587dup
|
rs35320129
|
|
NM_000503.5(EYA1):c.-589C>A
|
rs886063099
|
|
NM_000503.5(EYA1):c.-590C>A
|
rs886063100
|
|
NM_000503.5(EYA1):c.557del
|
rs1819990660
|
|
NM_000503.6(EYA1):c.*1126T>C
|
rs1806487217
|
|
NM_000503.6(EYA1):c.*1135_*1138dup
|
rs886063085
|
|
NM_000503.6(EYA1):c.*1217TTA[1]
|
rs574723016
|
|
NM_000503.6(EYA1):c.*1310G>A
|
rs147323889
|
|
NM_000503.6(EYA1):c.*1372_*1375dup
|
rs142792208
|
|
NM_000503.6(EYA1):c.*1561ATCA[3]
|
rs553875263
|
|
NM_000503.6(EYA1):c.*451C>T
|
rs1806581730
|
|
NM_000503.6(EYA1):c.*509_*512del
|
rs146202037
|
|
NM_000503.6(EYA1):c.*755A>T
|
rs1806536881
|
|
NM_000503.6(EYA1):c.*770_*773dup
|
rs371488223
|
|
NM_000503.6(EYA1):c.*901dup
|
rs570995924
|
|
NM_000503.6(EYA1):c.-155G>A
|
rs886063090
|
|
NM_000503.6(EYA1):c.-192G>A
|
rs886063092
|
|
NM_000503.6(EYA1):c.-242T>G
|
rs886063093
|
|
NM_000503.6(EYA1):c.-263C>T
|
rs146081509
|
|
NM_000503.6(EYA1):c.-326G>T
|
rs551597748
|
|
NM_000503.6(EYA1):c.-340G>C
|
rs55997623
|
|
NM_000503.6(EYA1):c.-340G>T
|
rs55997623
|
|
NM_000503.6(EYA1):c.-47C>A
|
rs760164698
|
|
NM_000503.6(EYA1):c.-75G>C
|
rs558296770
|
|
NM_000503.6(EYA1):c.1009C>T (p.His337Tyr)
|
|
|
NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs)
|
rs1554615536
|
|
NM_000503.6(EYA1):c.1029del (p.Tyr344fs)
|
|
|
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter)
|
rs1554615511
|
|
NM_000503.6(EYA1):c.1046G>T (p.Gly349Val)
|
rs2128948109
|
|
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.1051-323C>G
|
rs116950892
|
|
NM_000503.6(EYA1):c.1051-5T>G
|
rs2128904621
|
|
NM_000503.6(EYA1):c.1051G>T (p.Asp351Tyr)
|
rs2128904607
|
|
NM_000503.6(EYA1):c.1053T>G (p.Asp351Glu)
|
|
|
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>A (p.Arg361Gln)
|
|
|
NM_000503.6(EYA1):c.1082G>C (p.Arg361Pro)
|
|
|
NM_000503.6(EYA1):c.1084del (p.Met362fs)
|
|
|
NM_000503.6(EYA1):c.1087G>A (p.Glu363Lys)
|
rs121909198
|
|
NM_000503.6(EYA1):c.1090G>T (p.Glu364Ter)
|
rs876657689
|
|
NM_000503.6(EYA1):c.1107G>T (p.Leu369Phe)
|
rs193920835
|
|
NM_000503.6(EYA1):c.1116A>G (p.Thr372=)
|
rs1041652836
|
|
NM_000503.6(EYA1):c.1117_1118del (p.His373fs)
|
rs886039674
|
|
NM_000503.6(EYA1):c.1122del (p.Leu374fs)
|
rs397517916
|
|
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>A
|
rs1812855196
|
|
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.1145G>A (p.Cys382Tyr)
|
|
|
NM_000503.6(EYA1):c.1155C>A (p.Val385=)
|
|
|
NM_000503.6(EYA1):c.1157A>T (p.His386Leu)
|
rs2128854710
|
|
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.1189C>T (p.Gln397Ter)
|
rs2128854635
|
|
NM_000503.6(EYA1):c.1190A>G (p.Gln397Arg)
|
|
|
NM_000503.6(EYA1):c.1195dup (p.Leu399fs)
|
rs1585820240
|
|
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.1211T>G (p.Phe404Cys)
|
|
|
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.1258T>C (p.Leu420=)
|
rs200074362
|
|
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.1285G>C (p.Asp429His)
|
|
|
NM_000503.6(EYA1):c.128A>C (p.Lys43Thr)
|
|
|
NM_000503.6(EYA1):c.1295G>A (p.Arg432Lys)
|
rs727503046
|
|
NM_000503.6(EYA1):c.1309C>T (p.Arg437Cys)
|
|
|
NM_000503.6(EYA1):c.1310G>A (p.Arg437His)
|
|
|
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.1321G>A (p.Val441Ile)
|
|
|
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.133_149del (p.Thr44_Glu45insTer)
|
|
|
NM_000503.6(EYA1):c.1350delinsCC (p.Asn451fs)
|
|
|
NM_000503.6(EYA1):c.1354_1355del (p.Val452fs)
|
rs1585817892
|
|
NM_000503.6(EYA1):c.1360+286_1360+303dup
|
rs61175547
|
|
NM_000503.6(EYA1):c.1360+2C>T
|
rs727503045
|
|
NM_000503.6(EYA1):c.1360+5G>A
|
|
|
NM_000503.6(EYA1):c.1361-1G>A
|
rs397517917
|
|
NM_000503.6(EYA1):c.1361-1G>T
|
rs397517917
|
|
NM_000503.6(EYA1):c.1361-2A>G
|
rs2128851194
|
|
NM_000503.6(EYA1):c.1381_1387dup (p.Ala463fs)
|
rs2128851100
|
|
NM_000503.6(EYA1):c.1402A>G (p.Arg468Gly)
|
rs727503044
|
|
NM_000503.6(EYA1):c.1408G>T (p.Glu470Ter)
|
|
|
NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs)
|
rs1585812463
|
|
NM_000503.6(EYA1):c.141G>A (p.Met47Ile)
|
|
|
NM_000503.6(EYA1):c.1425del (p.Asp476fs)
|
rs2128850973
|
|
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.1496_1499del (p.Ile498_Leu499insTer)
|
rs2128850253
|
|
NM_000503.6(EYA1):c.1501_1507del (p.Thr501fs)
|
rs606231356
|
|
NM_000503.6(EYA1):c.1505C>G (p.Thr502Ser)
|
rs1585810834
|
|
NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg)
|
rs121909201
|
|
NM_000503.6(EYA1):c.1525T>A (p.Leu509Met)
|
|
|
NM_000503.6(EYA1):c.1531A>T (p.Lys511Ter)
|
rs1057520766
|
|
NM_000503.6(EYA1):c.1537C>A (p.Leu513Met)
|
rs1809062554
|
|
NM_000503.6(EYA1):c.1543T>C (p.Tyr515His)
|
rs2128850056
|
|
NM_000503.6(EYA1):c.1545T>A (p.Tyr515Ter)
|
|
|
NM_000503.6(EYA1):c.1570G>T (p.Glu524Ter)
|
|
|
NM_000503.6(EYA1):c.1570_1571insTA (p.Glu524fs)
|
|
|
NM_000503.6(EYA1):c.1577T>G (p.Ile526Ser)
|
|
|
NM_000503.6(EYA1):c.1579T>A (p.Tyr527Asn)
|
rs397517918
|
|
NM_000503.6(EYA1):c.158C>T (p.Ala53Val)
|
|
|
NM_000503.6(EYA1):c.1597+114del
|
rs367683185
|
|
NM_000503.6(EYA1):c.1597+1G>A
|
rs1563630117
|
|
NM_000503.6(EYA1):c.1597+1G>C
|
|
|
NM_000503.6(EYA1):c.1597+1G>T
|
|
|
NM_000503.6(EYA1):c.1597+288del
|
rs368815352
|
|
NM_000503.6(EYA1):c.1597G>C (p.Gly533Arg)
|
rs1563630128
|
|
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.1598-2del
|
|
|
NM_000503.6(EYA1):c.1598-326C>G
|
rs7818376
|
|
NM_000503.6(EYA1):c.1598-32_1598-8del
|
|
|
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.1639A>G (p.Arg547Gly)
|
rs121909197
|
|
NM_000503.6(EYA1):c.1644del (p.Val549fs)
|
rs2128835339
|
|
NM_000503.6(EYA1):c.1650G>A (p.Val550=)
|
rs368320173
|
|
NM_000503.6(EYA1):c.1650_1651dup (p.Tyr551fs)
|
rs2128835296
|
|
NM_000503.6(EYA1):c.1654GTT[1] (p.Val553del)
|
rs1563621870
|
|
NM_000503.6(EYA1):c.1670G>C (p.Gly557Ala)
|
|
|
NM_000503.6(EYA1):c.1670G>T (p.Gly557Val)
|
|
|
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.1697A>G (p.Lys566Arg)
|
|
|
NM_000503.6(EYA1):c.1697_1698insT (p.Lys566fs)
|
rs397517919
|
|
NM_000503.6(EYA1):c.1698+14G>A
|
rs373281401
|
|
NM_000503.6(EYA1):c.1698+1G>T
|
rs530147851
|
|
NM_000503.6(EYA1):c.1698+2T>C
|
|
|
NM_000503.6(EYA1):c.1699-119_1699-116dup
|
|
|
NM_000503.6(EYA1):c.1701C>A (p.His567Gln)
|
rs763080811
|
|
NM_000503.6(EYA1):c.1701C>T (p.His567=)
|
rs763080811
|
|
NM_000503.6(EYA1):c.1701del (p.His567fs)
|
|
|
NM_000503.6(EYA1):c.1704G>A (p.Ala568=)
|
|
|
NM_000503.6(EYA1):c.1714dup (p.Trp572fs)
|
rs1064795739
|
|
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.1771T>A (p.Tyr591Asn)
|
|
|
NM_000503.6(EYA1):c.1771dup (p.Tyr591fs)
|
|
|
NM_000503.6(EYA1):c.197G>T (p.Gly66Val)
|
|
|
NM_000503.6(EYA1):c.201A>G (p.Ser67=)
|
rs2129046974
|
|
NM_000503.6(EYA1):c.202+1G>A
|
rs753245290
|
|
NM_000503.6(EYA1):c.202+8A>T
|
|
|
NM_000503.6(EYA1):c.202_203insTTAC (p.Ala68fs)
|
|
|
NM_000503.6(EYA1):c.203-15G>T
|
rs772006212
|
|
NM_000503.6(EYA1):c.203-16T>G
|
rs1342337171
|
|
NM_000503.6(EYA1):c.203C>G (p.Ala68Gly)
|
rs1822657436
|
|
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.241C>T (p.Gln81Ter)
|
rs1554550637
|
|
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+99A>T
|
rs75686418
|
|
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.299C>T (p.Thr100Ile)
|
|
|
NM_000503.6(EYA1):c.300C>T (p.Thr100=)
|
rs1378359746
|
|
NM_000503.6(EYA1):c.317T>C (p.Met106Thr)
|
rs2129031597
|
|
NM_000503.6(EYA1):c.339G>A (p.Gln113=)
|
|
|
NM_000503.6(EYA1):c.355C>T (p.Gln119Ter)
|
rs2129031508
|
|
NM_000503.6(EYA1):c.384A>G (p.Pro128=)
|
|
|
NM_000503.6(EYA1):c.396_406del (p.Gln132fs)
|
rs876657690
|
|
NM_000503.6(EYA1):c.398_405del (p.Pro133fs)
|
|
|
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.415T>C (p.Tyr139His)
|
rs763614581
|
|
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+1G>A
|
rs886042006
|
|
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.428G>A (p.Trp143Ter)
|
rs727504494
|
|
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.470C>T (p.Ser157Leu)
|
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.524C>T (p.Pro175Leu)
|
rs201908026
|
|
NM_000503.6(EYA1):c.532del (p.Ala178fs)
|
rs1554548840
|
|
NM_000503.6(EYA1):c.557-1G>A
|
|
|
NM_000503.6(EYA1):c.557-206G>C
|
rs148248577
|
|
NM_000503.6(EYA1):c.557-7del
|
rs1586248304
|
|
NM_000503.6(EYA1):c.56C>G (p.Ser19Cys)
|
rs2129069830
|
|
NM_000503.6(EYA1):c.579A>G (p.Ser193=)
|
rs945935998
|
|
NM_000503.6(EYA1):c.585A>G (p.Ile195Met)
|
|
|
NM_000503.6(EYA1):c.602C>G (p.Ser201Ter)
|
rs1563423589
|
|
NM_000503.6(EYA1):c.605del (p.Leu202fs)
|
rs1554542073
|
|
NM_000503.6(EYA1):c.617C>T (p.Ser206Phe)
|
|
|
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.639+2T>G
|
rs2129000653
|
|
NM_000503.6(EYA1):c.639+3A>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.640G>A (p.Asp214Asn)
|
rs1563422500
|
|
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg)
|
rs200923204
|
|
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.682_686dup (p.Tyr230fs)
|
rs2128999992
|
|
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.704A>T (p.Tyr235Phe)
|
|
|
NM_000503.6(EYA1):c.706C>A (p.Pro236Thr)
|
|
|
NM_000503.6(EYA1):c.717T>G (p.Tyr239Ter)
|
|
|
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs)
|
rs1586244371
|
|
NM_000503.6(EYA1):c.755C>T (p.Thr252Ile)
|
|
|
NM_000503.6(EYA1):c.758A>G (p.Asn253Ser)
|
rs960785529
|
|
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+104C>T
|
rs17783968
|
|
NM_000503.6(EYA1):c.826+1G>A
|
|
|
NM_000503.6(EYA1):c.826+214C>G
|
rs56232555
|
|
NM_000503.6(EYA1):c.827-20T>C
|
|
|
NM_000503.6(EYA1):c.838A>C (p.Ile280Leu)
|
|
|
NM_000503.6(EYA1):c.845_852del (p.Ser282fs)
|
|
|
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.88A>G (p.Ile30Val)
|
rs1554565600
|
|
NM_000503.6(EYA1):c.896C>A (p.Ser299Ter)
|
rs876657691
|
|
NM_000503.6(EYA1):c.8T>G (p.Met3Arg)
|
|
|
NM_000503.6(EYA1):c.900T>C (p.Asp300=)
|
rs762588398
|
|
NM_000503.6(EYA1):c.906A>T (p.Lys302Asn)
|
|
|
NM_000503.6(EYA1):c.911G>A (p.Arg304His)
|
|
|
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+233_966+236del
|
rs199972984
|
|
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.966+5G>T
|
|
|
NM_000503.6(EYA1):c.967-13T>C
|
rs749461885
|
|
NM_000503.6(EYA1):c.971T>C (p.Val324Ala)
|
|
|
NM_000503.6(EYA1):c.972_973dup (p.Phe325fs)
|
|
|
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_000503.6(EYA1):c.9G>A (p.Met3Ile)
|
rs1826704843
|
|
NM_001370334.1(EYA1):c.-135A>C
|
|
|
NM_172058.2(EYA1):c.(?_1598-56)_(*1968_?)del
|
|
|