NM_000503.6(EYA1):c.1755T>C (p.His585=)
|
rs10103397
|
0.35033
|
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_000503.6(EYA1):c.1699-3C>T
|
rs117149407
|
0.01158
|
NM_000503.6(EYA1):c.840C>A (p.Ile280=)
|
rs55972891
|
0.00286
|
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_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.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.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.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.164C>T (p.Thr55Met)
|
rs201434219
|
0.00023
|
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.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.1377T>A (p.Ala459=)
|
rs112593082
|
0.00007
|
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln)
|
rs148647933
|
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.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_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.1383G>A (p.Arg461=)
|
rs540131742
|
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.910C>T (p.Arg304Cys)
|
rs772877702
|
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_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.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.403G>A (p.Gly135Ser)
|
rs747476629
|
0.00001
|
NM_000503.6(EYA1):c.491T>C (p.Leu164Pro)
|
rs1007684729
|
0.00001
|
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln)
|
rs369822742
|
0.00001
|
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
|
|
|
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.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>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.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.1325_1326del (p.Lys442fs)
|
rs2128853806
|
|
NM_000503.6(EYA1):c.1329_1330del (p.Glu443fs)
|
rs1554596461
|
|
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+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.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>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.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.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.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.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.490dup (p.Leu164fs)
|
rs2129025227
|
|
NM_000503.6(EYA1):c.515C>T (p.Thr172Ile)
|
|
|
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>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.755C>T (p.Thr252Ile)
|
|
|
NM_000503.6(EYA1):c.75C>T (p.Leu25=)
|
|
|
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.950del (p.Pro317fs)
|
|
|
NM_000503.6(EYA1):c.966+14A>G
|
|
|
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
|
|