NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys)
|
rs62638625
|
0.00037
|
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)
|
rs121917828
|
0.00022
|
NM_000541.5(SAG):c.577C>T (p.Arg193Ter)
|
rs201153410
|
0.00020
|
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
|
rs61750168
|
0.00019
|
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)
|
rs62638191
|
0.00018
|
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro)
|
rs191205969
|
0.00016
|
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs)
|
rs777989874
|
0.00016
|
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)
|
rs62638214
|
0.00011
|
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs)
|
rs1325957874
|
0.00010
|
NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter)
|
rs62637037
|
0.00010
|
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu)
|
rs62638197
|
0.00009
|
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)
|
rs764605140
|
0.00006
|
NM_198506.5(LRIT3):c.1318C>T (p.Arg440Ter)
|
rs397509378
|
0.00006
|
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp)
|
rs200637525
|
0.00005
|
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter)
|
rs62638624
|
0.00005
|
NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr)
|
rs62638208
|
0.00004
|
NM_002929.3(GRK1):c.1139T>A (p.Val380Asp)
|
rs777094000
|
0.00004
|
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)
|
rs201452975
|
0.00004
|
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter)
|
rs150115958
|
0.00004
|
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)
|
rs373037737
|
0.00003
|
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)
|
rs121434304
|
0.00003
|
NM_000843.4(GRM6):c.448G>A (p.Gly150Ser)
|
rs62638202
|
0.00003
|
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)
|
rs281875236
|
0.00003
|
NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His)
|
rs775810789
|
0.00003
|
NM_002075.4(GNB3):c.200C>T (p.Ser67Phe)
|
rs140263599
|
0.00003
|
NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter)
|
rs778497200
|
0.00003
|
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)
|
rs374913800
|
0.00003
|
NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter)
|
rs397509379
|
0.00003
|
NM_000539.3(RHO):c.491C>T (p.Ala164Val)
|
rs104893793
|
0.00002
|
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys)
|
rs387906862
|
0.00002
|
NM_001256789.3(CACNA1F):c.1276+34G>A
|
rs782575860
|
0.00002
|
NM_145200.5(CABP4):c.292C>T (p.Arg98Ter)
|
rs777555935
|
0.00002
|
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter)
|
rs531851447
|
0.00002
|
NM_198506.5(LRIT3):c.983G>A (p.Cys328Tyr)
|
rs376610215
|
0.00002
|
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)
|
rs1290420698
|
0.00001
|
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)
|
rs970768801
|
0.00001
|
NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter)
|
rs387907138
|
0.00001
|
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)
|
rs768701595
|
0.00001
|
NM_001252024.2(TRPM1):c.1898C>A (p.Pro633His)
|
rs267607139
|
0.00001
|
NM_001252024.2(TRPM1):c.2087+2T>C
|
rs766862238
|
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.1840C>T (p.Arg614Ter)
|
rs886039559
|
0.00001
|
NM_001256789.3(CACNA1F):c.2086-2A>G
|
rs1358925739
|
0.00001
|
NM_001256789.3(CACNA1F):c.2543+1G>A
|
rs886044841
|
0.00001
|
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)
|
rs782740998
|
0.00001
|
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter)
|
rs782034481
|
0.00001
|
NM_004727.3(SLC24A1):c.2401G>T (p.Glu801Ter)
|
rs1410075831
|
0.00001
|
NC_000015.10:g.(?_31001061)_(31161273_?)del
|
|
|
NG_016453.2:g.66830_103274del
|
|
|
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)
|
rs61749670
|
|
NM_000180.4(GUCY2D):c.247C>T (p.Arg83Cys)
|
|
|
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg)
|
rs1567961680
|
|
NM_000180.4(GUCY2D):c.2731C>T (p.Leu911Phe)
|
|
|
NM_000283.4(PDE6B):c.2193+1G>A
|
rs727504075
|
|
NM_000283.4(PDE6B):c.772C>A (p.His258Asn)
|
rs121918582
|
|
NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter)
|
rs61751398
|
|
NM_000539.3(RHO):c.269G>A (p.Gly90Asp)
|
rs104893790
|
|
NM_000539.3(RHO):c.281C>T (p.Thr94Ile)
|
rs104893796
|
|
NM_000539.3(RHO):c.68C>A (p.Pro23His)
|
rs104893768
|
|
NM_000539.3(RHO):c.875C>A (p.Ala292Glu)
|
rs104893789
|
|
NM_000541.5(SAG):c.648+1G>C
|
rs1700648887
|
|
NM_000541.5(SAG):c.874C>T (p.Arg292Ter)
|
rs397514681
|
|
NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter)
|
rs764476239
|
|
NM_000843.4(GRM6):c.577del (p.Val193fs)
|
rs781463257
|
|
NM_000843.4(GRM6):c.722-1G>T
|
rs766594761
|
|
NM_000843.4(GRM6):c.727dup
|
rs281865186
|
|
NM_001004334.4(GPR179):c.1667G>A (p.Trp556Ter)
|
|
|
NM_001004334.4(GPR179):c.1784+1G>A
|
rs773126191
|
|
NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr)
|
rs281875234
|
|
NM_001004334.4(GPR179):c.187del (p.Leu63fs)
|
rs794726686
|
|
NM_001004334.4(GPR179):c.278del (p.Pro93fs)
|
rs794726685
|
|
NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs)
|
rs1567728372
|
|
NM_001004334.4(GPR179):c.984del (p.Ser329fs)
|
rs770066665
|
|
NM_001252024.2(TRPM1):c.1089+3_1089+6del
|
rs772011426
|
|
NM_001252024.2(TRPM1):c.1305_1324del (p.Glu436fs)
|
|
|
NM_001252024.2(TRPM1):c.2013C>A (p.Tyr671Ter)
|
rs1195734631
|
|
NM_001252024.2(TRPM1):c.2711C>A (p.Ser904Ter)
|
rs786205113
|
|
NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter)
|
rs267607140
|
|
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs)
|
rs778390089
|
|
NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs)
|
rs2031777349
|
|
NM_001252024.2(TRPM1):c.482del (p.Gly161fs)
|
rs1226505973
|
|
NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter)
|
rs1596029830
|
|
NM_001252024.2(TRPM1):c.97C>T (p.Gln33Ter)
|
rs267607141
|
|
NM_001256789.3(CACNA1F):c.1044del (p.Trp349fs)
|
|
|
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp)
|
rs122456133
|
|
NM_001256789.3(CACNA1F):c.1118+1G>C
|
rs2065841382
|
|
NM_001256789.3(CACNA1F):c.1218del (p.Trp407fs)
|
rs1557110192
|
|
NM_001256789.3(CACNA1F):c.1723del (p.Ser575fs)
|
rs2065808928
|
|
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.2872C>T (p.Arg958Ter)
|
rs122456134
|
|
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)
|
rs80359870
|
|
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter)
|
rs2065717735
|
|
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)
|
rs1602630650
|
|
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter)
|
rs782581701
|
|
NM_001256789.3(CACNA1F):c.4548del (p.Phe1517fs)
|
rs2147895629
|
|
NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe)
|
rs1602621312
|
|
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)
|
rs1057518829
|
|
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.266G>C (p.Arg89Pro)
|
rs104894910
|
|
NM_001378477.3(NYX):c.287T>C (p.Ile96Thr)
|
rs104894911
|
|
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del)
|
rs281865194
|
|
NM_001378477.3(NYX):c.782T>C (p.Leu261Pro)
|
rs1602180791
|
|
NM_001378477.3(NYX):c.90C>A (p.Cys30Ter)
|
rs62637021
|
|
NM_002075.4(GNB3):c.1017G>A (p.Trp339Ter)
|
rs879253773
|
|
NM_002075.4(GNB3):c.170_172del (p.Lys57del)
|
rs879253774
|
|
NM_002929.3(GRK1):c.1069+3317_1195-753del
|
|
|
NM_002929.3(GRK1):c.1172C>A (p.Pro391His)
|
rs570621429
|
|
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs)
|
rs756235051
|
|
NM_004727.3(SLC24A1):c.1613_1614del (p.Phe538fs)
|
|
|
NM_004727.3(SLC24A1):c.1691_1693del (p.Phe564del)
|
rs1555403793
|
|
NM_004727.3(SLC24A1):c.2968A>C (p.Ser990Arg)
|
rs1555407654
|
|
NM_004727.3(SLC24A1):c.3291_3294del (p.Val1099fs)
|
rs766780281
|
|
NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys)
|
rs62637027
|
|
NM_144499.3(GNAT1):c.113G>A (p.Gly38Asp)
|
rs104893740
|
|
NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly)
|
rs786205854
|
|
NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu)
|
rs786205853
|
|
NM_145200.3(CABP4):c.800_801delAG
|
rs786205249
|
|
NM_145200.5(CABP4):c.154C>T (p.Arg52Ter)
|
rs745382789
|
|
NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs)
|
rs1590998813
|
|
NM_145200.5(CABP4):c.65del (p.Pro22fs)
|
rs775166854
|
|
NM_145200.5(CABP4):c.81_82insA (p.Pro28fs)
|
rs786205852
|
|
NM_198506.5(LRIT3):c.1538_1539del (p.Ser513fs)
|
rs397509380
|
|
NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter)
|
rs2125900955
|
|