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.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.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.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.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.1699-3C>T
|
rs117149407
|
0.01158
|
NM_000503.6(EYA1):c.-4-284C>G
|
rs76548836
|
0.01018
|
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.*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.-54-314A>G
|
rs12115159
|
0.00374
|
NM_000503.6(EYA1):c.966+250A>G
|
rs73684736
|
0.00342
|
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.1141-15T>G
|
rs186249248
|
0.00103
|
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.1699-8T>C
|
rs201537030
|
0.00048
|
NM_000503.6(EYA1):c.884T>C (p.Leu295Ser)
|
rs146687496
|
0.00041
|
NM_000503.6(EYA1):c.966+4C>T
|
rs139429307
|
0.00032
|
NM_000503.6(EYA1):c.164C>T (p.Thr55Met)
|
rs201434219
|
0.00023
|
NM_000503.6(EYA1):c.*9G>A
|
rs370353759
|
0.00019
|
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_000503.6(EYA1):c.887G>A (p.Arg296His)
|
rs181191349
|
0.00014
|
NM_000503.6(EYA1):c.783G>A (p.Pro261=)
|
rs146648560
|
0.00013
|
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.1377T>A (p.Ala459=)
|
rs112593082
|
0.00007
|
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln)
|
rs148647933
|
0.00007
|
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.266C>T (p.Pro89Leu)
|
rs368351103
|
0.00005
|
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.112A>G (p.Asn38Asp)
|
rs765646278
|
0.00003
|
NM_000503.6(EYA1):c.125-13T>C
|
rs753263675
|
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.107C>T (p.Thr36Ile)
|
rs727503048
|
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.1026G>A (p.Gly342=)
|
rs1195003159
|
0.00001
|
NM_000503.6(EYA1):c.1224C>T (p.Gly408=)
|
rs1809269824
|
0.00001
|
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)
|
rs121909199
|
0.00001
|
NM_000503.6(EYA1):c.1454C>T (p.Ala485Val)
|
rs778970223
|
0.00001
|
NM_000503.6(EYA1):c.1483T>A (p.Cys495Ser)
|
rs1563630587
|
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.229C>T (p.Arg77Ter)
|
rs200164773
|
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.640-4G>C
|
rs757754363
|
0.00001
|
NM_000503.6(EYA1):c.701C>T (p.Pro234Leu)
|
rs761632944
|
0.00001
|
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(chr8:72214786-72225252)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
|
|
|
NM_000503.6(EYA1):c.-340G>T
|
rs55997623
|
|
NM_000503.6(EYA1):c.1029del (p.Tyr344fs)
|
|
|
NM_000503.6(EYA1):c.1046G>T (p.Gly349Val)
|
rs2128948109
|
|
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.1081C>T (p.Arg361Ter)
|
rs121909202
|
|
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.1140+4_1140+7del
|
rs1554605968
|
|
NM_000503.6(EYA1):c.1145G>A (p.Cys382Tyr)
|
|
|
NM_000503.6(EYA1):c.1157A>T (p.His386Leu)
|
rs2128854710
|
|
NM_000503.6(EYA1):c.1189C>T (p.Gln397Ter)
|
rs2128854635
|
|
NM_000503.6(EYA1):c.1310G>A (p.Arg437His)
|
|
|
NM_000503.6(EYA1):c.1360+286_1360+303dup
|
rs61175547
|
|
NM_000503.6(EYA1):c.1381_1387dup (p.Ala463fs)
|
rs2128851100
|
|
NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter)
|
rs1475718221
|
|
NM_000503.6(EYA1):c.1468C>G (p.His490Asp)
|
rs748575456
|
|
NM_000503.6(EYA1):c.1475G>A (p.Arg492Gln)
|
rs2128850745
|
|
NM_000503.6(EYA1):c.1505C>G (p.Thr502Ser)
|
rs1585810834
|
|
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.1570G>T (p.Glu524Ter)
|
|
|
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+288del
|
rs368815352
|
|
NM_000503.6(EYA1):c.1597G>C (p.Gly533Arg)
|
rs1563630128
|
|
NM_000503.6(EYA1):c.1598-326C>G
|
rs7818376
|
|
NM_000503.6(EYA1):c.1598-32_1598-8del
|
|
|
NM_000503.6(EYA1):c.1650G>A (p.Val550=)
|
rs368320173
|
|
NM_000503.6(EYA1):c.1697A>G (p.Lys566Arg)
|
|
|
NM_000503.6(EYA1):c.1699-119_1699-116dup
|
|
|
NM_000503.6(EYA1):c.1714dup (p.Trp572fs)
|
rs1064795739
|
|
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)
|
rs397517920
|
|
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_203insTTAC (p.Ala68fs)
|
|
|
NM_000503.6(EYA1):c.235A>G (p.Thr79Ala)
|
rs1554550645
|
|
NM_000503.6(EYA1):c.272+99A>T
|
rs75686418
|
|
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.418+1G>A
|
rs886042006
|
|
NM_000503.6(EYA1):c.524C>T (p.Pro175Leu)
|
rs201908026
|
|
NM_000503.6(EYA1):c.557-206G>C
|
rs148248577
|
|
NM_000503.6(EYA1):c.557-7del
|
rs1586248304
|
|
NM_000503.6(EYA1):c.579A>G (p.Ser193=)
|
rs945935998
|
|
NM_000503.6(EYA1):c.602C>G (p.Ser201Ter)
|
rs1563423589
|
|
NM_000503.6(EYA1):c.605del (p.Leu202fs)
|
rs1554542073
|
|
NM_000503.6(EYA1):c.640-15G>A
|
rs2129000122
|
|
NM_000503.6(EYA1):c.640-15_698del
|
rs1554541834
|
|
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.682_686dup (p.Tyr230fs)
|
rs2128999992
|
|
NM_000503.6(EYA1):c.684G>A (p.Gln228=)
|
|
|
NM_000503.6(EYA1):c.758A>G (p.Asn253Ser)
|
rs960785529
|
|
NM_000503.6(EYA1):c.811A>T (p.Thr271Ser)
|
|
|
NM_000503.6(EYA1):c.826+104C>T
|
rs17783968
|
|
NM_000503.6(EYA1):c.826+214C>G
|
rs56232555
|
|
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.900T>C (p.Asp300=)
|
rs762588398
|
|
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)
|
rs121909195
|
|
NM_000503.6(EYA1):c.966+233_966+236del
|
rs199972984
|
|
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.971T>C (p.Val324Ala)
|
|
|
NM_001370334.1(EYA1):c.-135A>C
|
|
|