ClinVar Miner

List of variants in gene EYA1

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 530
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HGVS dbSNP gnomAD frequency
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

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