NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)
|
rs61751402
|
0.00006
|
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)
|
rs569364202
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)
|
rs398123575
|
0.00004
|
NM_012193.4(FZD4):c.313A>G (p.Met105Val)
|
rs80358284
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His)
|
rs775810789
|
0.00003
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)
|
rs398124619
|
0.00003
|
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr)
|
rs773372123
|
0.00002
|
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)
|
rs183771956
|
0.00002
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00002
|
NM_206933.4(USH2A):c.9371+1G>C
|
rs41308425
|
0.00002
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)
|
rs61750135
|
0.00001
|
NM_000431.4(MVK):c.380C>T (p.Pro127Leu)
|
rs775474803
|
0.00001
|
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)
|
rs29001566
|
0.00001
|
NM_000539.3(RHO):c.325G>A (p.Gly109Arg)
|
rs1415160298
|
0.00001
|
NM_000539.3(RHO):c.50C>T (p.Thr17Met)
|
rs104893769
|
0.00001
|
NM_001023570.4(IQCB1):c.488-1G>A
|
rs779696701
|
0.00001
|
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)
|
rs754391973
|
0.00001
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
0.00001
|
NM_032119.4(ADGRV1):c.13232-1G>A
|
rs764583867
|
0.00001
|
NM_152384.3(BBS5):c.2T>A (p.Met1Lys)
|
rs767822498
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)
|
rs201866631
|
0.00001
|
NM_206933.4(USH2A):c.12067-1G>A
|
rs397517977
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
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
|
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
|
|
|
NC_000015.10:g.(?_31001061)_(31161273_?)del
|
|
|
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs)
|
rs782077721
|
|
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs)
|
rs1591467894
|
|
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)
|
rs397516326
|
|
NM_000431.4(MVK):c.630G>A (p.Trp210Ter)
|
rs1593021917
|
|
NM_000539.3(RHO):c.1030C>T (p.Gln344Ter)
|
rs104893778
|
|
NM_000539.3(RHO):c.1040del (p.Pro347fs)
|
rs2084801618
|
|
NM_000539.3(RHO):c.266G>A (p.Gly89Asp)
|
rs104893772
|
|
NM_000539.3(RHO):c.328T>C (p.Cys110Arg)
|
rs1578278438
|
|
NM_000539.3(RHO):c.341G>A (p.Gly114Asp)
|
rs104893788
|
|
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)
|
rs104893775
|
|
NM_000539.3(RHO):c.44A>G (p.Asn15Ser)
|
rs104893786
|
|
NM_000539.3(RHO):c.512C>A (p.Pro171Gln)
|
rs2084776162
|
|
NM_000539.3(RHO):c.512C>T (p.Pro171Leu)
|
rs2084776162
|
|
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)
|
rs775557680
|
|
NM_000539.3(RHO):c.568G>A (p.Asp190Asn)
|
rs104893779
|
|
NM_000539.3(RHO):c.800C>T (p.Pro267Leu)
|
rs104893781
|
|
NM_000539.3(RHO):c.886A>G (p.Lys296Glu)
|
rs29001653
|
|
NM_000539.3(RHO):c.888G>C (p.Lys296Asn)
|
rs2084793009
|
|
NM_001034853.2(RPGR):c.1928C>G (p.Ser643Ter)
|
rs869312185
|
|
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)
|
rs751629543
|
|
NM_001142800.2(EYS):c.8816G>C (p.Cys2939Ser)
|
rs1582139965
|
|
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr)
|
rs1574385431
|
|
NM_001377295.2(GNAT2):c.605G>A (p.Gly202Glu)
|
rs1570562309
|
|
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)
|
rs727504301
|
|
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)
|
rs387906692
|
|
NM_004523.4(KIF11):c.478_479del (p.Leu160fs)
|
rs1589591659
|
|
NM_004698.4(PRPF3):c.1285G>T (p.Asp429Tyr)
|
rs1572263404
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter)
|
rs137853005
|
|
NM_006343.2:c.-8163_c.1145-1213del
|
|
|
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)
|
rs547495754
|
|
NM_021728.4(OTX2):c.811del (p.Thr271fs)
|
rs1594952007
|
|
NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs)
|
rs1276890742
|
|
NM_032119.4(ADGRV1):c.9748+2T>C
|
rs1580864592
|
|
NM_152564.5(VPS13B):c.468_471del (p.Asn157fs)
|
rs1588038825
|
|
NM_152564.5(VPS13B):c.6046+1G>C
|
rs750003804
|
|
NM_152564.5(VPS13B):c.7683del (p.Lys2561fs)
|
rs771308343
|
|
NM_174878.3(CLRN1):c.65T>A (p.Leu22His)
|
rs1576651623
|
|
NM_176824.3(BBS7):c.500_501insTATGAG (p.Cys167_Gln168insMetSer)
|
rs1578564877
|
|
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys)
|
rs1386612395
|
|
NM_206933.4(USH2A):c.3158-2A>G
|
rs878853404
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter)
|
rs869312179
|
|
NM_206933.4(USH2A):c.6657+1G>A
|
rs1571876788
|
|