NM_001081.4(CUBN):c.6125-2A>G
|
rs75386064
|
0.00226
|
NM_016239.4(MYO15A):c.6728C>T (p.Thr2243Met)
|
rs753611930
|
0.00010
|
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln)
|
rs143934667
|
0.00006
|
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met)
|
rs146919762
|
0.00006
|
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys)
|
rs202151375
|
0.00006
|
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00004
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp)
|
rs772699709
|
0.00003
|
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)
|
rs137852923
|
0.00003
|
NM_020632.3(ATP6V0A4):c.816+1G>A
|
rs1450564765
|
0.00002
|
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys)
|
rs778286042
|
0.00002
|
NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr)
|
rs137927542
|
0.00001
|
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg)
|
rs761686437
|
0.00001
|
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)
|
rs869025328
|
0.00001
|
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)
|
rs1559594442
|
0.00001
|
NM_000092.5(COL4A4):c.4333+3A>G
|
rs1455105815
|
0.00001
|
NM_000260.4(MYO7A):c.849+5G>A
|
rs1060499716
|
0.00001
|
NM_005219.5(DIAPH1):c.2082G>T (p.Leu694Phe)
|
rs778995744
|
0.00001
|
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter)
|
rs775612958
|
0.00001
|
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs)
|
rs1221876133
|
0.00001
|
NM_020366.4(RPGRIP1):c.3238+3A>G
|
rs1389509266
|
0.00001
|
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
0.00001
|
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)
|
rs757854282
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9372-1G>A
|
rs1558111861
|
0.00001
|
NM_000067.3(CA2):c.232+1G>A
|
rs573750741
|
|
NM_000070.3(CAPN3):c.1992+1G>T
|
rs863224961
|
|
NM_000091.4:c.1900G>A;c.1927G>A
|
|
|
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
|
rs200814061
|
|
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg)
|
rs1363277825
|
|
NM_000092.5(COL4A4):c.3574_3577+8del
|
rs1553627655
|
|
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val)
|
rs374815903
|
|
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
|
rs1962591629
|
|
NM_000092.5(COL4A4):c.4694_4713del (p.Arg1565fs)
|
rs1553612433
|
|
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu)
|
rs1553611876
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000163.5(GHR):c.281G>A (p.Trp94Ter)
|
rs1060499692
|
|
NM_000180.4(GUCY2D):c.1040_1041del (p.Phe347fs)
|
rs763890649
|
|
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)
|
rs1555069238
|
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
|
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs)
|
rs1591467918
|
|
NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu)
|
rs886039872
|
|
NM_001080476.3(GRXCR1):c.385-2A>G
|
rs771844359
|
|
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr)
|
rs1568839335
|
|
NM_001177701.3(IFT27):c.116C>G (p.Thr39Arg)
|
rs1938280351
|
|
NM_001199563.2(BVES):c.457C>T (p.Gln153Ter)
|
rs1562137622
|
|
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs)
|
rs745949846
|
|
NM_001378454.1(ALMS1):c.1437_1450del (p.Asp479fs)
|
rs1572931120
|
|
NM_001378454.1(ALMS1):c.1601dup (p.Thr534_Asp535insTer)
|
rs1572931360
|
|
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs)
|
rs763898293
|
|
NM_001692.4(ATP6V1B1):c.481GAG[1] (p.Glu162del)
|
rs1572920649
|
|
NM_003052.5(SLC34A1):c.1708C>A (p.Pro570Thr)
|
rs144700897
|
|
NM_003052.5(SLC34A1):c.654G>A (p.Ala218=)
|
rs150592440
|
|
NM_003052.5(SLC34A1):c.713A>C (p.Glu238Ala)
|
rs1554095500
|
|
NM_004836.7(EIF2AK3):c.503G>A (p.Arg168His)
|
rs1003629254
|
|
NM_005422.4(TECTA):c.458C>T (p.Thr153Met)
|
rs1555121799
|
|
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)
|
rs1323529877
|
|
NM_014956.5(CEP164):c.4286+1G>T
|
rs2047400808
|
|
NM_015102.5(NPHP4):c.1124_1125insCC (p.Ser376fs)
|
rs1570504754
|
|
NM_015102.5(NPHP4):c.750dup (p.Ser251fs)
|
rs754862360
|
|
NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter)
|
rs1555616593
|
|
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro)
|
rs775066754
|
|
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter)
|
rs1567649945
|
|
NM_017807.4(OSGEP):c.892A>T (p.Met298Leu)
|
rs1566507605
|
|
NM_020964.3(EPG5):c.6752del (p.Val2251fs)
|
rs1057516194
|
|
NM_022124.6(CDH23):c.1987-1G>A
|
rs1060499714
|
|
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter)
|
rs1564794944
|
|
NM_024649.5(BBS1):c.777del (p.Glu260fs)
|
rs1555047786
|
|
NM_025114.4(CEP290):c.2317dup (p.Ser773fs)
|
rs1555218898
|
|
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
|
NM_032119.4(ADGRV1):c.11122-1G>C
|
rs1561660434
|
|
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn)
|
rs756275299
|
|
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg)
|
rs1580624630
|
|
NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter)
|
rs886039893
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro)
|
rs886039888
|
|
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)
|
rs1554223332
|
|
NM_138694.4(PKHD1):c.7351-1G>C
|
rs1554282540
|
|
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val)
|
rs1554263076
|
|
NM_138694.4(PKHD1):c.8798-2A>T
|
rs1582470309
|
|
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)
|
rs1582469538
|
|
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala)
|
rs1057516201
|
|
NM_138694.4(PKHD1):c.9253C>G (p.Gln3085Glu)
|
rs1164973591
|
|
NM_153676.4(USH1C):c.2380+1G>C
|
rs1060499916
|
|
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys)
|
rs1565058763
|
|
NM_153717.3(EVC):c.1554dup (p.Leu519fs)
|
rs1553876870
|
|
NM_153717.3(EVC):c.384G>T (p.Arg128=)
|
rs1553865346
|
|
NM_170784.3(MKKS):c.-41_985+60del
|
|
|
NM_170784.3(MKKS):c.613A>T (p.Lys205Ter)
|
rs1555802009
|
|
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser)
|
rs1715589813
|
|
NM_174878.3(CLRN1):c.209G>A (p.Gly70Asp)
|
rs1559996059
|
|
NM_198428.3(BBS9):c.785T>C (p.Val262Ala)
|
rs886039875
|
|
NM_201384.3(PLEC):c.1419-10G>T
|
rs1827885925
|
|
NM_206933.4(USH2A):c.11174del (p.Phe3725fs)
|
rs1571657875
|
|
NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs)
|
rs1553320542
|
|
NM_206933.4(USH2A):c.3435del (p.Val1147fs)
|
rs397518012
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_207361.6(FREM2):c.3103_3104del (p.Leu1036fs)
|
rs1555261304
|
|
NM_207361.6(FREM2):c.3890del (p.Ile1297fs)
|
rs776269575
|
|