NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)
|
rs150726175
|
0.00087
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)
|
rs202210819
|
0.00032
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)
|
rs62638191
|
0.00018
|
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr)
|
rs149862950
|
0.00018
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
|
rs61750152
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
NM_001298.3(CNGA3):c.101+1G>A
|
rs147118493
|
0.00014
|
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)
|
rs104893615
|
0.00012
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg)
|
rs200963831
|
0.00011
|
NM_001297.5(CNGB1):c.413-1G>A
|
rs189234741
|
0.00010
|
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)
|
rs759781200
|
0.00010
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
0.00009
|
NM_032119.4(ADGRV1):c.14973-2A>G
|
rs371981035
|
0.00009
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)
|
rs201471607
|
0.00007
|
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)
|
rs104893620
|
0.00007
|
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)
|
rs373862340
|
0.00007
|
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)
|
rs121918165
|
0.00006
|
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter)
|
rs199636364
|
0.00006
|
NM_004183.4(BEST1):c.1415del (p.Leu472fs)
|
rs752125512
|
0.00006
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)
|
rs199584830
|
0.00005
|
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)
|
rs41298133
|
0.00004
|
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)
|
rs146591309
|
0.00004
|
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met)
|
rs104893619
|
0.00004
|
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)
|
rs541717028
|
0.00004
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
|
rs28940315
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)
|
rs61750155
|
0.00003
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_000539.3(RHO):c.53G>A (p.Gly18Asp)
|
rs200946638
|
0.00003
|
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)
|
rs372659908
|
0.00003
|
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter)
|
rs777509481
|
0.00003
|
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter)
|
rs377600857
|
0.00003
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)
|
rs121908179
|
0.00003
|
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
|
rs62636275
|
0.00003
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)
|
rs782539587
|
0.00002
|
NM_000350.3(ABCA4):c.3050+5G>A
|
rs61751262
|
0.00002
|
NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter)
|
rs387907268
|
0.00002
|
NM_001142800.2(EYS):c.2259+1G>A
|
rs752736741
|
0.00002
|
NM_001242957.3(MAK):c.497G>A (p.Arg166His)
|
rs387906648
|
0.00002
|
NM_001256789.3(CACNA1F):c.1276+34G>A
|
rs782575860
|
0.00002
|
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys)
|
rs1028371920
|
0.00002
|
NM_002905.5(RDH5):c.382G>A (p.Asp128Asn)
|
rs377029071
|
0.00002
|
NM_002905.5(RDH5):c.572G>A (p.Arg191Gln)
|
rs367757406
|
0.00002
|
NM_005530.3(IDH3A):c.911C>A (p.Pro304His)
|
rs756712426
|
0.00002
|
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)
|
rs767745816
|
0.00002
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965
|
0.00002
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter)
|
rs267600727
|
0.00002
|
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)
|
rs754875934
|
0.00002
|
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)
|
rs759408031
|
0.00002
|
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489
|
0.00002
|
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)
|
rs750889782
|
0.00001
|
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)
|
rs61750172
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)
|
rs376535635
|
0.00001
|
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)
|
rs878864531
|
0.00001
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)
|
rs61751403
|
0.00001
|
NM_000350.3(ABCA4):c.5196+1G>A
|
rs61751377
|
0.00001
|
NM_000350.3(ABCA4):c.5312+1G>A
|
rs886044750
|
0.00001
|
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)
|
rs61750658
|
0.00001
|
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)
|
rs753942596
|
0.00001
|
NM_000440.3(PDE6A):c.2506+1G>A
|
rs1561671507
|
0.00001
|
NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter)
|
rs774215025
|
0.00001
|
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)
|
rs369937337
|
0.00001
|
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)
|
rs781035395
|
0.00001
|
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)
|
rs1471994744
|
0.00001
|
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)
|
rs1060499783
|
0.00001
|
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)
|
rs1168101857
|
0.00001
|
NM_001201543.2(FAM161A):c.1321dup (p.His441fs)
|
rs1316281505
|
0.00001
|
NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter)
|
rs765645888
|
0.00001
|
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)
|
rs1485132228
|
0.00001
|
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)
|
rs782740998
|
0.00001
|
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter)
|
rs104893678
|
0.00001
|
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser)
|
rs1464167194
|
0.00001
|
NM_001354768.3(NRL):c.91C>T (p.Arg31Ter)
|
rs762991211
|
0.00001
|
NM_001370348.2(PHF3):c.*8063_*8068del
|
rs1296130120
|
0.00001
|
NM_002905.5(RDH5):c.160C>T (p.Arg54Ter)
|
rs769035379
|
0.00001
|
NM_003816.3(ADAM9):c.1455C>A (p.Tyr485Ter)
|
rs1588391640
|
0.00001
|
NM_003816.3(ADAM9):c.490C>T (p.Arg164Ter)
|
rs137853041
|
0.00001
|
NM_004183.4(BEST1):c.404G>A (p.Gly135Asp)
|
rs1159966472
|
0.00001
|
NM_004183.4(BEST1):c.653G>A (p.Arg218His)
|
rs281865239
|
0.00001
|
NM_004183.4(BEST1):c.74G>A (p.Arg25Gln)
|
rs281865215
|
0.00001
|
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter)
|
rs886037880
|
0.00001
|
NM_006214.4(PHYH):c.135-1G>C
|
rs1057272016
|
0.00001
|
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)
|
rs749314857
|
0.00001
|
NM_019098.5(CNGB3):c.1207C>T (p.Arg403Ter)
|
rs770786127
|
0.00001
|
NM_019098.5(CNGB3):c.644-1G>C
|
rs201794629
|
0.00001
|
NM_024753.5(TTC21B):c.1088-1G>C
|
rs753627675
|
0.00001
|
NM_133497.4(KCNV2):c.782C>A (p.Ala261Asp)
|
rs755071813
|
0.00001
|
NM_133497.4(KCNV2):c.958C>T (p.Arg320Cys)
|
rs754275640
|
0.00001
|
NM_144499.3(GNAT1):c.460G>T (p.Asp154Tyr)
|
rs1293620319
|
0.00001
|
NM_145200.5(CABP4):c.757C>T (p.Arg253Ter)
|
rs761991624
|
0.00001
|
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)
|
rs202126574
|
0.00001
|
NM_153676.4(USH1C):c.497-2del
|
rs1480243085
|
0.00001
|
NM_174878.3(CLRN1):c.433+1G>A
|
rs201205811
|
0.00001
|
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)
|
rs114342808
|
0.00001
|
NM_201548.5(CERKL):c.238+1G>A
|
rs1276597208
|
0.00001
|
NM_201548.5(CERKL):c.2T>G (p.Met1Arg)
|
rs1187991259
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NM_207352.4(CYP4V2):c.120C>G (p.Tyr40Ter)
|
rs1481160549
|
0.00001
|
NC_000006.11:g.64666416_66194230del
|
|
|
NC_000006.11:g.65376653_65743428del
|
|
|
NC_000006.12:g.64349976_64426764del
|
|
|
NC_000012.12:g.1839550_1875411del
|
|
|
NC_000015.10:g.72708224_72722485del
|
|
|
NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln)
|
rs1598149187
|
|
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)
|
rs61750173
|
|
NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs)
|
rs1591286671
|
|
NM_000260.4(MYO7A):c.2187+1G>T
|
rs111033290
|
|
NM_000260.4(MYO7A):c.2307del (p.Asn769fs)
|
rs1060499800
|
|
NM_000260.4(MYO7A):c.285+2T>G
|
rs782292032
|
|
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs)
|
rs1591470904
|
|
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)
|
rs1060499801
|
|
NM_000274.4(OAT):c.159del (p.His53fs)
|
rs386833599
|
|
NM_000274.4(OAT):c.900+1G>A
|
rs1589700702
|
|
NM_000283.4(PDE6B):c.1417del (p.Leu473fs)
|
rs1577288305
|
|
NM_000283.4(PDE6B):c.1921-9C>G
|
rs1577301137
|
|
NM_000283.4(PDE6B):c.428C>A (p.Ala143Asp)
|
rs759382635
|
|
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)
|
rs61753224
|
|
NM_000322.5(PRPH2):c.441del (p.Gly148fs)
|
rs61755784
|
|
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter)
|
rs1554269081
|
|
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)
|
rs1582764519
|
|
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)
|
rs786205626
|
|
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)
|
rs28933990
|
|
NM_000329.3(RPE65):c.227A>C (p.His76Pro)
|
rs1571172233
|
|
NM_000329.3(RPE65):c.722A>T (p.His241Leu)
|
rs1557600322
|
|
NM_000330.4(RS1):c.523-2A>G
|
rs281865349
|
|
NM_000330.4(RS1):c.632C>T (p.Ala211Val)
|
rs1602308821
|
|
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
|
|
|
NM_000350.3(ABCA4):c.1172del (p.Lys391fs)
|
rs1570407032
|
|
NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter)
|
rs1557787756
|
|
NM_000350.3(ABCA4):c.3449_3451del (p.Cys1150del)
|
rs1570370826
|
|
NM_000350.3(ABCA4):c.4254-1G>A
|
rs886044740
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4895dup (p.Asn1632fs)
|
rs1571257937
|
|
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)
|
rs886044746
|
|
NM_000350.3(ABCA4):c.5059del (p.Ile1687fs)
|
rs1571256775
|
|
NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter)
|
rs1437993640
|
|
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)
|
rs886044747
|
|
NM_000350.3(ABCA4):c.5333_5336del (p.Met1778fs)
|
rs1571253050
|
|
NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg)
|
rs746252741
|
|
NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro)
|
rs1571252997
|
|
NM_000350.3(ABCA4):c.5460+1G>A
|
rs61753030
|
|
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
|
rs61751389
|
|
NM_000350.3(ABCA4):c.6077del (p.Leu2026fs)
|
rs1571245809
|
|
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn)
|
rs1571242070
|
|
NM_000350.3(ABCA4):c.834del (p.Asp279fs)
|
rs779743222
|
|
NM_000390.2:c.315_702del
|
|
|
NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter)
|
rs1603244690
|
|
NM_000390.4(CHM):c.564_565del (p.Pro189fs)
|
rs1603264449
|
|
NM_000390.4(CHM):c.715C>T (p.Arg239Ter)
|
rs776256380
|
|
NM_000390.4(CHM):c.799C>T (p.Arg267Ter)
|
rs886041179
|
|
NM_000390.4(CHM):c.819+1G>C
|
rs1603263147
|
|
NM_000390.4(CHM):c.877C>T (p.Arg293Ter)
|
rs132630266
|
|
NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter)
|
rs1581166539
|
|
NM_000440.3(PDE6A):c.2081_2085del (p.Glu694fs)
|
rs1581164936
|
|
NM_000440.3(PDE6A):c.409delinsCT (p.Asp137fs)
|
rs1581217626
|
|
NM_000528.4(MAN2B1):c.2670_2671del (p.Gly891fs)
|
rs1599338484
|
|
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)
|
rs104893775
|
|
NM_000539.3(RHO):c.548_638dup (p.Ile214fs)
|
rs1578280574
|
|
NM_000929.3(PLA2G5):c.280dup (p.Val94fs)
|
rs1569848362
|
|
NM_001017979.3(RAB28):c.409C>T (p.Arg137Ter)
|
rs398123044
|
|
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs)
|
rs1576559094
|
|
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)
|
rs794728002
|
|
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter)
|
rs1572829866
|
|
NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter)
|
rs267606691
|
|
NM_001029883.3(PCARE):c.776_777del (p.Glu259fs)
|
rs1572829514
|
|
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs)
|
rs281865302
|
|
NM_001034853.2(RPGR):c.1334C>G (p.Ser445Ter)
|
rs1601940608
|
|
NM_001034853.2(RPGR):c.1572+1G>A
|
rs1601931052
|
|
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter)
|
rs1601924184
|
|
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter)
|
rs907856232
|
|
NM_001034853.2(RPGR):c.2221_2224del (p.Glu741fs)
|
rs1601923578
|
|
NM_001034853.2(RPGR):c.2272G>T (p.Glu758Ter)
|
rs1601923388
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter)
|
rs1601978991
|
|
NM_001034853.2(RPGR):c.2772_2773dup (p.Gly925fs)
|
rs1601920599
|
|
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs)
|
rs1601920423
|
|
NM_001034853.2(RPGR):c.2797del (p.Glu933fs)
|
rs1346308311
|
|
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)
|
rs1555961440
|
|
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)
|
rs606231180
|
|
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)
|
rs1601972255
|
|
NM_001034853.2(RPGR):c.897dup (p.Ile300fs)
|
rs1601951704
|
|
NM_001077418.3(TMEM231):c.352T>G (p.Leu118Val)
|
rs1597041976
|
|
NM_001080442.3(SLC38A8):c.490_491del (p.Leu164fs)
|
rs1597273765
|
|
NM_001080442.3(SLC38A8):c.95T>G (p.Ile32Ser)
|
rs587777253
|
|
NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer)
|
rs1561480377
|
|
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)
|
rs765473119
|
|
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
|
rs764163418
|
|
NM_001142800.2(EYS):c.1558AAT[1] (p.Asn521del)
|
rs747069281
|
|
NM_001142800.2(EYS):c.1961dup (p.Asn654fs)
|
rs749103801
|
|
NM_001142800.2(EYS):c.3715G>T (p.Glu1239Ter)
|
rs1582932583
|
|
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs)
|
rs1582376398
|
|
NM_001142800.2(EYS):c.4361_4362delinsAG (p.Ser1454Ter)
|
rs1582930081
|
|
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter)
|
rs983691310
|
|
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)
|
rs878853350
|
|
NM_001142800.2(EYS):c.8105del (p.Asn2702fs)
|
rs1582146096
|
|
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)
|
rs764229134
|
|
NM_001142800.2(EYS):c.8167C>T (p.Gln2723Ter)
|
rs1168129071
|
|
NM_001142800.2(EYS):c.9223_9232del (p.Asn3075fs)
|
rs1582139308
|
|
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)
|
rs770748359
|
|
NM_001171.6(ABCC6):c.1413del (p.Arg473fs)
|
rs1596687174
|
|
NM_001171971.3(CDHR1):c.2087_2090del (p.Thr696fs)
|
rs1589313739
|
|
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)
|
rs397704718
|
|
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)
|
rs202193201
|
|
NM_001242957.3(MAK):c.393delinsACCTT (p.Leu132fs)
|
rs1581727126
|
|
NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter)
|
rs1596029830
|
|
NM_001256789.3(CACNA1F):c.1015-2A>G
|
rs1602653110
|
|
NM_001256789.3(CACNA1F):c.187_193dup (p.Ala65fs)
|
rs1602658505
|
|
NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys)
|
rs1602644716
|
|
NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter)
|
rs1602641426
|
|
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter)
|
rs122456135
|
|
NM_001256789.3(CACNA1F):c.2772del (p.Cys925fs)
|
rs1602639607
|
|
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)
|
rs1602630650
|
|
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)
|
rs1557110499
|
|
NM_001267727.2(ARSG):c.133G>T (p.Asp45Tyr)
|
rs1568445893
|
|
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys)
|
rs1286857064
|
|
NM_001298.3(CNGA3):c.1294del (p.Asp432fs)
|
rs1574391103
|
|
NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs)
|
rs1558811557
|
|
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu)
|
rs104893617
|
|
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly)
|
rs138958917
|
|
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del)
|
rs777878533
|
|
NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys)
|
rs1558820134
|
|
NM_001330691.3(CEP78):c.534del (p.Lys179fs)
|
rs1057517695
|
|
NM_001330691.3(CEP78):c.893-1G>A
|
rs1057517694
|
|
NM_001354768.3(NRL):c.444_445insGCTGCGGG (p.Leu149fs)
|
rs1594246708
|
|
NM_001368894.2(PAX6):c.10+1G>C
|
rs1592610121
|
|
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter)
|
rs1426009756
|
|
NM_001378477.3(NYX):c.1054_1055del (p.Val352fs)
|
rs1602181043
|
|
NM_001378477.3(NYX):c.1246_1247dup (p.Ala417fs)
|
rs1602181253
|
|
NM_001378477.3(NYX):c.782T>C (p.Leu261Pro)
|
rs1602180791
|
|
NM_001379270.1(CNGA1):c.305del (p.Lys102fs)
|
rs1560621807
|
|
NM_001379500.1(COL18A1):c.429dup (p.Ala144fs)
|
rs1602456821
|
|
NM_001793.6(CDH3):c.747C>A (p.Tyr249Ter)
|
rs1597807758
|
|
NM_001793.6(CDH3):c.981del (p.Met327fs)
|
rs724159984
|
|
NM_001844.5(COL2A1):c.1527+135G>A
|
rs1592218346
|
|
NM_001844.5(COL2A1):c.842_843insT (p.Gly282fs)
|
rs1592230091
|
|
NM_002602.4(PDE6G):c.187+1G>T
|
rs1598717056
|
|
NM_002900.3(RBP3):c.3379C>T (p.Gln1127Ter)
|
rs1588865728
|
|
NM_002905.5(RDH5):c.412del (p.Met138fs)
|
rs1592521438
|
|
NM_002905.5(RDH5):c.547G>T (p.Glu183Ter)
|
rs1592521712
|
|
NM_002905.5(RDH5):c.718dup (p.Ala240fs)
|
rs753378940
|
|
NM_002905.5(RDH5):c.71_74del (p.Leu24fs)
|
rs776634113
|
|
NM_003322.6(TULP1):c.1301G>A (p.Arg434Lys)
|
rs1581738478
|
|
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)
|
rs1581736099
|
|
NM_003322.6(TULP1):c.1495+2dup
|
rs1581735836
|
|
NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter)
|
rs1581743256
|
|
NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs)
|
rs1581742633
|
|
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs)
|
rs1581740762
|
|
NM_003816.3(ADAM9):c.1087T>A (p.Cys363Ser)
|
rs1588350497
|
|
NM_003816.3(ADAM9):c.411-8A>G
|
rs786205086
|
|
NM_004183.4(BEST1):c.294G>C (p.Glu98Asp)
|
rs1591283793
|
|
NM_004183.4(BEST1):c.29C>T (p.Ala10Val)
|
rs281865207
|
|
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg)
|
rs1565388478
|
|
NM_004183.4(BEST1):c.620T>A (p.Leu207His)
|
rs1591289408
|
|
NM_004183.4(BEST1):c.665G>T (p.Gly222Val)
|
rs281865241
|
|
NM_004183.4(BEST1):c.874G>A (p.Glu292Lys)
|
rs886039311
|
|
NM_004183.4(BEST1):c.887A>G (p.Asn296Ser)
|
rs281865255
|
|
NM_004183.4(BEST1):c.908A>T (p.Asp303Val)
|
rs1591301548
|
|
NM_004523.4(KIF11):c.381G>A (p.Trp127Ter)
|
rs1589590737
|
|
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)
|
rs121434241
|
|
NM_004928.3(CFAP410):c.643-1G>C
|
rs1602071514
|
|
NM_004928.3(CFAP410):c.643-2A>G
|
rs1602071524
|
|
NM_005709.4(USH1C):c.1220del (p.Gly407fs)
|
rs1207247951
|
|
NM_005802.5(TOPORS):c.2524dup (p.Thr842fs)
|
rs1587620892
|
|
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs)
|
rs527236116
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006017.3(PROM1):c.2281-20_2281-11del
|
rs886037881
|
|
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter)
|
rs1585563283
|
|
NM_006269.2(RP1):c.2180_2181delinsAA (p.Cys727Ter)
|
rs1585563328
|
|
NM_006269.2(RP1):c.688G>T (p.Gly230Ter)
|
rs1585559122
|
|
NM_006445.4(PRPF8):c.3391AAG[1] (p.Lys1132del)
|
rs1176869304
|
|
NM_006642.5(SDCCAG8):c.1714C>T (p.Gln572Ter)
|
rs1573920009
|
|
NM_006915.3(RP2):c.102+1G>T
|
rs1602342663
|
|
NM_006915.3(RP2):c.25_28del (p.Lys10fs)
|
rs1602342597
|
|
NM_006915.3(RP2):c.2T>C (p.Met1Thr)
|
rs797044561
|
|
NM_006915.3(RP2):c.352C>T (p.Arg118Cys)
|
rs1556318633
|
|
NM_006915.3(RP2):c.358C>T (p.Arg120Ter)
|
rs104894927
|
|
NM_006915.3(RP2):c.364del (p.Cys122fs)
|
rs1602347786
|
|
NM_006915.3(RP2):c.530_531del (p.Phe177fs)
|
rs1602347851
|
|
NM_012106.4(ARL2BP):c.101-1G>C
|
rs879255568
|
|
NM_012106.4(ARL2BP):c.38+2T>G
|
rs1597951232
|
|
NM_012469.4(PRPF6):c.2822_2824del (p.Phe941del)
|
rs747812103
|
|
NM_014249.4(NR2E3):c.1038G>C (p.Gln346His)
|
rs1595957521
|
|
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del)
|
rs1555454566
|
|
NM_014249.4(NR2E3):c.747+1G>C
|
rs1595956702
|
|
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe)
|
rs775364986
|
|
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)
|
rs1468041544
|
|
NM_014336.5(AIPL1):c.99del (p.Ile34fs)
|
rs1597340989
|
|
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr)
|
rs1596402406
|
|
NM_015072.5(TTLL5):c.2136+1G>A
|
rs1595009158
|
|
NM_015629.4(PRPF31):c.1108G>T (p.Glu370Ter)
|
rs1184467860
|
|
NM_015629.4(PRPF31):c.689del (p.Lys230fs)
|
rs1600342032
|
|
NM_015629.4(PRPF31):c.697+1G>A
|
rs1600342050
|
|
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)
|
rs786205564
|
|
NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter)
|
rs267606874
|
|
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs)
|
rs1586047969
|
|
NM_019098.5(CNGB3):c.2328del (p.Arg777fs)
|
rs1585941011
|
|
NM_019098.5(CNGB3):c.819del (p.Arg274fs)
|
rs1586003680
|
|
NM_020184.4(CNNM4):c.1494C>A (p.Asp498Glu)
|
rs776159012
|
|
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)
|
rs1420750126
|
|
NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter)
|
rs1371805993
|
|
NM_020366.4(RPGRIP1):c.2974del (p.Arg992fs)
|
rs1594224781
|
|
NM_020366.4(RPGRIP1):c.3663_3666del (p.Lys1221fs)
|
rs1594280914
|
|
NM_020843.4(SCAPER):c.2023-2A>G
|
rs1555558169
|
|
NM_020964.3(EPG5):c.3447G>A (p.Trp1149Ter)
|
rs886276412
|
|
NM_021831.6(AGBL5):c.1787_1788del (p.His596fs)
|
rs1285501658
|
|
NM_024649.5(BBS1):c.767del (p.Gln256fs)
|
rs1590762360
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024741.3(ZNF408):c.1697T>A (p.Leu566His)
|
rs1425566595
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)
|
rs62640574
|
|
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
|
rs1592784618
|
|
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)
|
rs121908174
|
|
NM_032119.4(ADGRV1):c.12125del (p.Met4042fs)
|
rs1581041519
|
|
NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs)
|
rs1581196586
|
|
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro)
|
rs121434632
|
|
NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter)
|
rs1589306127
|
|
NM_033100.4(CDHR1):c.1485+2T>G
|
rs767366723
|
|
NM_033100.4(CDHR1):c.1A>T (p.Met1Leu)
|
rs794726954
|
|
NM_133497.4(KCNV2):c.411_414del (p.Leu138fs)
|
rs1586686845
|
|
NM_133497.4(KCNV2):c.725_730del (p.Gln242_Arg243del)
|
rs1586687216
|
|
NM_133497.4(KCNV2):c.995_996dup (p.Ser333fs)
|
rs986350598
|
|
NM_144499.3(GNAT1):c.8del (p.Ala3fs)
|
rs1575415957
|
|
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)
|
rs766631462
|
|
NM_152443.3(RDH12):c.658+1G>A
|
rs387906272
|
|
NM_152443.3(RDH12):c.759del (p.Phe254fs)
|
rs1594867516
|
|
NM_152443.3(RDH12):c.821T>C (p.Leu274Pro)
|
rs1594867597
|
|
NM_152564.5(VPS13B):c.5342dup (p.Gln1782fs)
|
rs1588579347
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_173477.5(USH1G):c.205dup (p.Leu69fs)
|
rs1598584825
|
|
NM_174878.3(CLRN1):c.349_358del (p.Ala117fs)
|
rs1576631624
|
|
NM_176824.3(BBS7):c.87_88del (p.His29fs)
|
rs1578577361
|
|
NM_177965.4(CFAP418):c.545A>G (p.Gln182Arg)
|
rs387907137
|
|
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)
|
rs137852858
|
|
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)
|
rs62645754
|
|
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)
|
rs150412614
|
|
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp)
|
rs1571540258
|
|
NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs)
|
rs1571544281
|
|
NM_201253.3(CRB1):c.4005+1G>A
|
rs890453675
|
|
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)
|
rs281865175
|
|
NM_201253.3(CRB1):c.424G>T (p.Gly142Ter)
|
rs1571848659
|
|
NM_201548.5(CERKL):c.450_451del (p.Ile150fs)
|
rs1574489337
|
|
NM_206933.4(USH2A):c.10211del (p.Pro3404fs)
|
rs1571686349
|
|
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs)
|
rs1571953449
|
|
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter)
|
rs1571945476
|
|
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)
|
rs1553250184
|
|
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg)
|
rs768436928
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206933.4(USH2A):c.377del (p.Ser126fs)
|
rs1571805235
|
|
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)
|
rs1177198729
|
|
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val)
|
rs1571941511
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.8558+1G>T
|
rs770383273
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_207352.4(CYP4V2):c.1123del (p.Asp374_Leu375insTer)
|
rs1579976512
|
|