NM_001190417.2(ZNF674):c.*1120_*1121del
|
rs1491247337
|
0.24741
|
NM_145200.5(CABP4):c.*1873C>T
|
rs867214951
|
0.12553
|
NM_001011658.4(TRAPPC2):c.*263T>C
|
rs377210137
|
0.03618
|
NM_020661.4(AICDA):c.*1453_*1454insG
|
rs201738977
|
0.01403
|
NM_017875.4(SLC25A38):c.-292G>A
|
rs142441701
|
0.01159
|
NM_001004334.4(GPR179):c.*824G>A
|
rs191828655
|
0.00537
|
NM_145200.5(CABP4):c.*1636A>G
|
rs532435181
|
0.00479
|
NM_001011658.4(TRAPPC2):c.*942G>T
|
rs768568672
|
0.00414
|
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)
|
rs144149294
|
0.00385
|
NM_145200.5(CABP4):c.*2709G>A
|
rs189502443
|
0.00380
|
NM_001004334.4(GPR179):c.*554C>T
|
rs138942149
|
0.00319
|
NM_020661.4(AICDA):c.428-4_428-3insT
|
rs755095913
|
0.00272
|
NM_004727.3(SLC24A1):c.2764T>C (p.Trp922Arg)
|
rs146253044
|
0.00270
|
NM_198506.5(LRIT3):c.222G>A (p.Ala74=)
|
rs148450929
|
0.00264
|
NM_017875.4(SLC25A38):c.*304C>T
|
rs113251543
|
0.00262
|
NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_001330574.2(ZNF711):c.*540T>C
|
rs761918833
|
0.00212
|
NM_144499.3(GNAT1):c.*551C>T
|
rs116031664
|
0.00179
|
NM_145200.5(CABP4):c.*2668G>A
|
rs116414393
|
0.00171
|
NM_145200.5(CABP4):c.-27G>A
|
rs192302421
|
0.00167
|
NM_002351.5(SH2D1A):c.*1755G>A
|
rs1049817964
|
0.00163
|
NM_004727.3(SLC24A1):c.*721G>A
|
rs549899114
|
0.00160
|
NM_001252024.2(TRPM1):c.600A>G (p.Glu200=)
|
rs200934141
|
0.00157
|
NM_171998.4(RAB39B):c.*1935G>A
|
rs782447828
|
0.00151
|
NM_145200.5(CABP4):c.*1117C>A
|
rs565802060
|
0.00137
|
NM_153252.5(BRWD3):c.*6439G>A
|
rs375704347
|
0.00132
|
NM_153252.5(BRWD3):c.*2154A>G
|
rs184067970
|
0.00131
|
NM_153252.5(BRWD3):c.-267C>T
|
rs1306232684
|
0.00130
|
NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val)
|
rs192426710
|
0.00128
|
NM_002351.5(SH2D1A):c.*862T>A
|
rs774701387
|
0.00127
|
NM_145200.5(CABP4):c.*1190T>C
|
rs7127024
|
0.00126
|
NM_145200.5(CABP4):c.*1291A>G
|
rs146149609
|
0.00124
|
NM_001167.4(XIAP):c.*1904G>A
|
rs751700391
|
0.00118
|
NM_171998.4(RAB39B):c.*1452T>C
|
rs181070478
|
0.00118
|
NM_001378477.3(NYX):c.*103G>A
|
rs750048192
|
0.00105
|
NM_000539.3(RHO):c.*1455T>C
|
rs552362456
|
0.00096
|
NM_001004334.4(GPR179):c.2895G>A (p.Leu965=)
|
rs200583958
|
0.00096
|
NM_017875.4(SLC25A38):c.*490G>A
|
rs150889211
|
0.00096
|
NM_002578.5(PAK3):c.-473G>C
|
rs962885211
|
0.00093
|
NM_002351.4(SH2D1A):c.-124T>A
|
rs148700291
|
0.00092
|
NM_153252.5(BRWD3):c.*4139T>C
|
rs765392888
|
0.00091
|
NM_000539.3(RHO):c.*1599G>A
|
rs576980794
|
0.00086
|
NM_198506.5(LRIT3):c.1273A>C (p.Thr425Pro)
|
rs138218384
|
0.00086
|
NM_153252.5(BRWD3):c.*5790G>A
|
rs759779733
|
0.00085
|
NM_001167.4(XIAP):c.*870G>C
|
rs185823003
|
0.00084
|
NM_171998.4(RAB39B):c.*339T>C
|
rs781919581
|
0.00084
|
NM_001004334.4(GPR179):c.5868C>T (p.Ser1956=)
|
rs202228440
|
0.00082
|
NM_001378477.3(NYX):c.567C>A (p.Ile189=)
|
rs746383908
|
0.00081
|
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr)
|
rs148810231
|
0.00081
|
NM_145200.5(CABP4):c.*3043C>T
|
rs571674945
|
0.00080
|
NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=)
|
rs185715311
|
0.00079
|
NM_000307.5(POU3F4):c.*192T>C
|
rs775863791
|
0.00075
|
NM_145200.5(CABP4):c.547G>C (p.Gly183Arg)
|
rs146764702
|
0.00073
|
NM_004727.3(SLC24A1):c.1653C>T (p.Leu551=)
|
rs181942192
|
0.00072
|
NM_001330574.2(ZNF711):c.*763G>A
|
rs779266566
|
0.00071
|
NM_001004334.4(GPR179):c.976G>A (p.Ala326Thr)
|
rs201963254
|
0.00067
|
NM_001004334.4(GPR179):c.991+4T>C
|
rs375898051
|
0.00067
|
NM_145200.5(CABP4):c.*683A>G
|
rs146218513
|
0.00066
|
NM_004727.3(SLC24A1):c.*1699T>C
|
rs772057151
|
0.00065
|
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)
|
rs142420345
|
0.00064
|
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp)
|
rs201086495
|
0.00063
|
NM_001252024.2(TRPM1):c.507C>T (p.His169=)
|
rs201157794
|
0.00062
|
NM_001330574.2(ZNF711):c.*118C>T
|
rs907642064
|
0.00059
|
NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met)
|
rs201617759
|
0.00058
|
NM_000054.7(AVPR2):c.*282G>A
|
rs782404692
|
0.00056
|
NM_001004334.4(GPR179):c.5416G>A (p.Ala1806Thr)
|
rs201654499
|
0.00054
|
NM_001004334.4(GPR179):c.973G>A (p.Gly325Arg)
|
rs200392643
|
0.00054
|
NM_145200.5(CABP4):c.*681A>G
|
rs543961015
|
0.00053
|
NM_000132.4(F8):c.*426G>A
|
rs782273756
|
0.00052
|
NM_017875.4(SLC25A38):c.-237G>A
|
rs527536267
|
0.00051
|
NM_145200.5(CABP4):c.*702C>T
|
rs574323434
|
0.00051
|
NM_145200.5(CABP4):c.522G>A (p.Ser174=)
|
rs143344989
|
0.00051
|
NM_004727.3(SLC24A1):c.*2041C>T
|
rs138458275
|
0.00050
|
NM_001004334.4(GPR179):c.6475A>G (p.Lys2159Glu)
|
rs181844178
|
0.00049
|
NM_145200.5(CABP4):c.651+15G>A
|
rs199749736
|
0.00049
|
NM_001252024.2(TRPM1):c.*664A>G
|
rs573027667
|
0.00048
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_000132.4(F8):c.*78C>T
|
rs782435894
|
0.00047
|
NM_001252024.2(TRPM1):c.*229G>A
|
rs543341268
|
0.00047
|
NM_000539.3(RHO):c.*948T>C
|
rs529674071
|
0.00046
|
NM_001167.4(XIAP):c.*2521A>G
|
rs746553843
|
0.00046
|
NM_001252024.2(TRPM1):c.4308C>A (p.Pro1436=)
|
rs138216783
|
0.00045
|
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)
|
rs201943537
|
0.00045
|
NM_001252024.2(TRPM1):c.551G>A (p.Arg184Gln)
|
rs188852505
|
0.00044
|
NM_001378477.3(NYX):c.-57+46T>C
|
rs777981530
|
0.00044
|
NM_145200.5(CABP4):c.*1223G>A
|
rs555941085
|
0.00044
|
NM_001004334.4(GPR179):c.1723C>T (p.Arg575Cys)
|
rs200801090
|
0.00043
|
NM_001004334.4(GPR179):c.691C>T (p.Pro231Ser)
|
rs200731095
|
0.00043
|
NM_153252.5(BRWD3):c.*3293C>A
|
rs765169545
|
0.00043
|
NM_000539.3(RHO):c.*1179T>C
|
rs569761830
|
0.00042
|
NM_004727.3(SLC24A1):c.*40C>A
|
rs371028086
|
0.00042
|
NM_000539.3(RHO):c.*741T>C
|
rs753496233
|
0.00041
|
NM_004727.3(SLC24A1):c.3058G>A (p.Val1020Ile)
|
rs375878760
|
0.00041
|
NM_001378477.3(NYX):c.*383G>T
|
rs148699627
|
0.00040
|
NM_001004334.4(GPR179):c.1533C>T (p.Gly511=)
|
rs200421731
|
0.00039
|
NM_001011658.4(TRAPPC2):c.*1032T>C
|
rs1412886464
|
0.00039
|
NM_001167.4(XIAP):c.*6220C>T
|
rs370656891
|
0.00037
|
NM_002351.5(SH2D1A):c.*1601T>C
|
rs369322350
|
0.00036
|
NM_004727.3(SLC24A1):c.803T>C (p.Val268Ala)
|
rs202245263
|
0.00036
|
NM_001167.4(XIAP):c.*3408G>T
|
rs746713249
|
0.00035
|
NM_014332.3(SMPX):c.*395T>G
|
rs765339045
|
0.00035
|
NM_144499.3(GNAT1):c.*1274G>A
|
rs891084737
|
0.00034
|
NM_153252.5(BRWD3):c.*847G>A
|
rs897278146
|
0.00034
|
NM_198506.5(LRIT3):c.*1157T>C
|
rs572997541
|
0.00034
|
NM_000444.6(PHEX):c.*227C>G
|
rs765787001
|
0.00033
|
NM_001252024.2(TRPM1):c.2877C>T (p.Phe959=)
|
rs370822722
|
0.00033
|
NM_001252024.2(TRPM1):c.4645G>C (p.Asp1549His)
|
rs117105175
|
0.00033
|
NM_004727.3(SLC24A1):c.*1628C>A
|
rs983795023
|
0.00033
|
NM_000033.4(ABCD1):c.*903G>A
|
rs78155328
|
0.00032
|
NM_001252024.2(TRPM1):c.1795-8C>G
|
rs183856964
|
0.00032
|
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His)
|
rs144319567
|
0.00032
|
NM_144499.3(GNAT1):c.*1369G>T
|
rs563891409
|
0.00032
|
NM_153252.5(BRWD3):c.*5142A>G
|
rs41300244
|
0.00032
|
NM_000033.4(ABCD1):c.*767C>T
|
rs1276642493
|
0.00031
|
NM_001004334.4(GPR179):c.5927G>A (p.Arg1976His)
|
rs200274687
|
0.00031
|
NM_001252024.2(TRPM1):c.2701-10T>A
|
rs201747375
|
0.00031
|
NM_001330574.2(ZNF711):c.-316T>A
|
rs760150680
|
0.00031
|
NM_171998.4(RAB39B):c.-61G>C
|
rs898651947
|
0.00030
|
NM_001252024.2(TRPM1):c.*482A>G
|
rs188493932
|
0.00029
|
NM_001252024.2(TRPM1):c.3919G>A (p.Glu1307Lys)
|
rs200906550
|
0.00029
|
NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=)
|
rs371059164
|
0.00029
|
NM_017875.4(SLC25A38):c.-69C>T
|
rs886058470
|
0.00029
|
NM_144499.3(GNAT1):c.*1954C>T
|
rs377634380
|
0.00029
|
NM_145200.5(CABP4):c.10G>C (p.Glu4Gln)
|
rs143494300
|
0.00029
|
NM_001004334.4(GPR179):c.3656_3657del (p.Pro1219fs)
|
rs779266036
|
0.00028
|
NM_145200.5(CABP4):c.309C>T (p.Ser103=)
|
rs555315887
|
0.00028
|
NM_145200.5(CABP4):c.318C>T (p.Asp106=)
|
rs375330570
|
0.00028
|
NM_001167.4(XIAP):c.*6010G>A
|
rs764617684
|
0.00027
|
NM_001252024.2(TRPM1):c.1089C>T (p.Leu363=)
|
rs202130526
|
0.00027
|
NM_004727.3(SLC24A1):c.1891-6T>C
|
rs372058206
|
0.00027
|
NM_145200.5(CABP4):c.*1158A>G
|
rs539741322
|
0.00027
|
NM_000166.6(GJB1):c.*277A>G
|
rs759936874
|
0.00026
|
NM_001252024.2(TRPM1):c.2496A>G (p.Lys832=)
|
rs34915313
|
0.00026
|
NM_001252024.2(TRPM1):c.30C>T (p.Thr10=)
|
rs180878088
|
0.00026
|
NM_144499.3(GNAT1):c.*5C>T
|
rs554301590
|
0.00026
|
NM_001004334.4(GPR179):c.989G>T (p.Gly330Val)
|
rs372908857
|
0.00025
|
NM_001011658.4(TRAPPC2):c.*1486G>A
|
rs187740735
|
0.00025
|
NM_001167.4(XIAP):c.*3544G>A
|
rs747125911
|
0.00025
|
NM_017875.4(SLC25A38):c.-225G>A
|
rs370977005
|
0.00025
|
NM_145200.5(CABP4):c.*1040C>A
|
rs186530202
|
0.00025
|
NM_000283.4(PDE6B):c.*545T>C
|
rs149186081
|
0.00024
|
NM_001252024.2(TRPM1):c.3970T>C (p.Cys1324Arg)
|
rs201888584
|
0.00024
|
NM_001271696.3(ABCB7):c.*113A>G
|
rs916633787
|
0.00024
|
NM_004727.3(SLC24A1):c.*809G>A
|
rs755760960
|
0.00024
|
NM_145200.5(CABP4):c.214A>C (p.Asn72His)
|
rs143788427
|
0.00024
|
NM_000283.4(PDE6B):c.*271G>A
|
rs552530901
|
0.00023
|
NM_001252024.2(TRPM1):c.3294-15G>A
|
rs376352901
|
0.00023
|
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)
|
rs121917828
|
0.00022
|
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu)
|
rs145778165
|
0.00021
|
NM_001004334.4(GPR179):c.*453C>T
|
rs539092082
|
0.00021
|
NM_001004334.4(GPR179):c.3900A>T (p.Ile1300=)
|
rs200167781
|
0.00021
|
NM_001252024.2(TRPM1):c.795G>C (p.Leu265=)
|
rs371394864
|
0.00021
|
NM_198506.5(LRIT3):c.*1038C>T
|
rs182511132
|
0.00021
|
NM_198506.5(LRIT3):c.1029G>T (p.Val343=)
|
rs199943498
|
0.00021
|
NM_198506.5(LRIT3):c.30C>A (p.Val10=)
|
rs373793629
|
0.00021
|
NM_000033.4(ABCD1):c.*412T>C
|
rs1057515815
|
0.00020
|
NM_000539.3(RHO):c.630C>T (p.Val210=)
|
rs371192803
|
0.00020
|
NM_171998.4(RAB39B):c.-84C>G
|
rs1008244571
|
0.00020
|
NM_001004334.4(GPR179):c.*454G>A
|
rs138028812
|
0.00019
|
NM_001004334.4(GPR179):c.3508C>T (p.Arg1170Trp)
|
rs201856624
|
0.00019
|
NM_001004334.4(GPR179):c.5606A>C (p.Gln1869Pro)
|
rs201516786
|
0.00019
|
NM_198506.5(LRIT3):c.*626G>A
|
rs550462658
|
0.00019
|
NM_198506.5(LRIT3):c.1046C>T (p.Thr349Ile)
|
rs199662798
|
0.00019
|
NM_000132.4(F8):c.*1166A>G
|
rs984572217
|
0.00018
|
NM_001167.4(XIAP):c.*1705A>G
|
rs766498412
|
0.00018
|
NM_001252024.2(TRPM1):c.3252C>T (p.Val1084=)
|
rs773508261
|
0.00018
|
NM_001252024.2(TRPM1):c.4367C>G (p.Thr1456Arg)
|
rs61734297
|
0.00018
|
NM_000132.4(F8):c.2887G>A (p.Asp963Asn)
|
rs199660138
|
0.00017
|
NM_001004334.4(GPR179):c.5083G>A (p.Glu1695Lys)
|
rs199697891
|
0.00017
|
NM_001011658.4(TRAPPC2):c.*752A>G
|
rs1057515791
|
0.00017
|
NM_001252024.2(TRPM1):c.1602G>A (p.Leu534=)
|
rs368601558
|
0.00017
|
NM_001252024.2(TRPM1):c.2460C>G (p.Gly820=)
|
rs185129255
|
0.00017
|
NM_001330574.2(ZNF711):c.*169C>T
|
rs748560628
|
0.00017
|
NM_002764.4(PRPS1):c.*159G>A
|
rs747334780
|
0.00017
|
NM_001004334.4(GPR179):c.3568C>T (p.Arg1190Trp)
|
rs200978744
|
0.00016
|
NM_001004334.4(GPR179):c.5859G>A (p.Glu1953=)
|
rs370586289
|
0.00016
|
NM_001252024.2(TRPM1):c.2440-12T>A
|
rs200151910
|
0.00016
|
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val)
|
rs201650867
|
0.00016
|
NM_145200.5(CABP4):c.*394T>A
|
rs1047325440
|
0.00016
|
NM_198506.5(LRIT3):c.1307T>C (p.Met436Thr)
|
rs371356043
|
0.00016
|
NM_000283.4(PDE6B):c.1920+4G>A
|
rs370313003
|
0.00015
|
NM_000444.6(PHEX):c.1026C>T (p.Arg342=)
|
rs746847960
|
0.00014
|
NM_000444.6(PHEX):c.690C>T (p.Ala230=)
|
rs149487757
|
0.00014
|
NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=)
|
rs376750375
|
0.00014
|
NM_001004334.4(GPR179):c.6335C>T (p.Ala2112Val)
|
rs542057732
|
0.00014
|
NM_001252024.2(TRPM1):c.*228C>T
|
rs544752312
|
0.00014
|
NM_001252024.2(TRPM1):c.2297G>A (p.Arg766Gln)
|
rs376234885
|
0.00014
|
NM_002764.4(PRPS1):c.*166G>A
|
rs371265973
|
0.00014
|
NM_002764.4(PRPS1):c.*88C>T
|
rs1057515726
|
0.00014
|
NM_004727.3(SLC24A1):c.1542C>T (p.Ile514=)
|
rs372658740
|
0.00014
|
NM_004727.3(SLC24A1):c.309A>G (p.Thr103=)
|
rs375495390
|
0.00014
|
NM_145200.5(CABP4):c.*1413C>T
|
rs563724143
|
0.00014
|
NM_198506.5(LRIT3):c.*1108A>G
|
rs749828551
|
0.00014
|
NM_198506.5(LRIT3):c.1644G>A (p.Gly548=)
|
rs528069315
|
0.00014
|
NM_000539.3(RHO):c.*1255T>C
|
rs774496991
|
0.00013
|
NM_001004334.4(GPR179):c.1784+8C>T
|
rs137860025
|
0.00013
|
NM_001004334.4(GPR179):c.3145G>A (p.Ala1049Thr)
|
rs188307315
|
0.00013
|
NM_004727.3(SLC24A1):c.-73A>G
|
rs886051346
|
0.00013
|
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=)
|
rs369980078
|
0.00013
|
NM_000444.6(PHEX):c.*339A>G
|
rs773553690
|
0.00012
|
NM_000444.6(PHEX):c.957G>A (p.Lys319=)
|
rs373261521
|
0.00012
|
NM_153252.5(BRWD3):c.*1473T>A
|
rs756025042
|
0.00012
|
NM_153252.5(BRWD3):c.*3083G>T
|
rs987452216
|
0.00012
|
NM_000307.5(POU3F4):c.585A>G (p.Glu195=)
|
rs202020213
|
0.00011
|
NM_001167.4(XIAP):c.*1481C>T
|
rs1483818489
|
0.00011
|
NM_001252024.2(TRPM1):c.4781A>G (p.His1594Arg)
|
rs200626726
|
0.00011
|
NM_004727.3(SLC24A1):c.1925A>G (p.Gln642Arg)
|
rs376244274
|
0.00011
|
NM_004727.3(SLC24A1):c.2751C>T (p.Ile917=)
|
rs368057501
|
0.00011
|
NM_017875.4(SLC25A38):c.-227G>A
|
rs886058468
|
0.00011
|
NM_145200.5(CABP4):c.*2004G>T
|
rs570209950
|
0.00011
|
NM_145200.5(CABP4):c.*2836C>T
|
rs145684543
|
0.00011
|
NM_145200.5(CABP4):c.*2860A>T
|
rs148932555
|
0.00011
|
NM_198506.5(LRIT3):c.*1322T>C
|
rs146584985
|
0.00011
|
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr)
|
rs753156183
|
0.00010
|
NM_000132.4(F8):c.*1731T>C
|
rs782700848
|
0.00010
|
NM_000283.4(PDE6B):c.*309T>A
|
rs559243245
|
0.00010
|
NM_000283.4(PDE6B):c.*504A>G
|
rs886059550
|
0.00010
|
NM_001004334.4(GPR179):c.2248T>A (p.Ser750Thr)
|
rs772088402
|
0.00010
|
NM_001004334.4(GPR179):c.3348C>T (p.Ser1116=)
|
rs78284900
|
0.00010
|
NM_001004334.4(GPR179):c.5350C>A (p.Pro1784Thr)
|
rs117255299
|
0.00010
|
NM_001011658.4(TRAPPC2):c.*1288T>G
|
rs1417991590
|
0.00010
|
NM_001011658.4(TRAPPC2):c.*187A>T
|
rs1427810998
|
0.00010
|
NM_002578.5(PAK3):c.-274G>C
|
rs765534627
|
0.00010
|
NM_004727.3(SLC24A1):c.*2083C>T
|
rs886051360
|
0.00010
|
NM_004727.3(SLC24A1):c.-161G>A
|
rs886051345
|
0.00010
|
NM_144499.3(GNAT1):c.*728C>T
|
rs774324843
|
0.00010
|
NM_145200.5(CABP4):c.*1390C>T
|
rs564944745
|
0.00010
|
NM_000166.6(GJB1):c.*402G>A
|
rs753223616
|
0.00009
|
NM_000444.6(PHEX):c.444T>C (p.Ile148=)
|
rs145881500
|
0.00009
|
NM_001004334.4(GPR179):c.4459G>A (p.Val1487Met)
|
rs187514572
|
0.00009
|
NM_001004334.4(GPR179):c.5382G>A (p.Met1794Ile)
|
rs199726938
|
0.00009
|
NM_001004334.4(GPR179):c.5905G>A (p.Val1969Ile)
|
rs144104172
|
0.00009
|
NM_001011658.4(TRAPPC2):c.*670C>T
|
rs1429642104
|
0.00009
|
NM_001167.4(XIAP):c.*1940T>C
|
rs755490620
|
0.00009
|
NM_001167.4(XIAP):c.*6221G>A
|
rs757596272
|
0.00009
|
NM_002351.5(SH2D1A):c.*511A>G
|
rs921205093
|
0.00009
|
NM_002764.4(PRPS1):c.*762G>T
|
rs768310830
|
0.00009
|
NM_004727.3(SLC24A1):c.235C>G (p.Pro79Ala)
|
rs779538393
|
0.00009
|
NM_004727.3(SLC24A1):c.47G>A (p.Arg16Gln)
|
rs201549936
|
0.00009
|
NM_144499.3(GNAT1):c.*903G>A
|
rs912176233
|
0.00009
|
NM_145200.5(CABP4):c.398-8C>T
|
rs372275562
|
0.00009
|
NM_153252.5(BRWD3):c.*3594T>C
|
rs879201626
|
0.00009
|
NM_153252.5(BRWD3):c.2326-14C>A
|
rs765268982
|
0.00009
|
NM_171998.4(RAB39B):c.*588A>G
|
rs1222599497
|
0.00009
|
NM_000132.4(F8):c.2696G>A (p.Ser899Asn)
|
rs145089334
|
0.00008
|
NM_000539.3(RHO):c.399C>A (p.Ile133=)
|
rs372812523
|
0.00008
|
NM_001004334.4(GPR179):c.1220G>A (p.Arg407Gln)
|
rs568763662
|
0.00008
|
NM_001004334.4(GPR179):c.3383G>A (p.Arg1128Gln)
|
rs370214602
|
0.00008
|
NM_001011658.4(TRAPPC2):c.*867C>T
|
rs1471265901
|
0.00008
|
NM_001167.4(XIAP):c.*3001T>A
|
rs765082277
|
0.00008
|
NM_001252024.2(TRPM1):c.2088-8C>T
|
rs762208610
|
0.00008
|
NM_001252024.2(TRPM1):c.4755T>C (p.Ile1585=)
|
rs201668928
|
0.00008
|
NM_002351.5(SH2D1A):c.*110T>C
|
rs746586521
|
0.00008
|
NM_004727.3(SLC24A1):c.1910C>T (p.Ala637Val)
|
rs375420645
|
0.00008
|
NM_004727.3(SLC24A1):c.776T>C (p.Phe259Ser)
|
rs370617242
|
0.00008
|
NM_145200.5(CABP4):c.*2000A>G
|
rs927120262
|
0.00008
|
NM_198506.5(LRIT3):c.*1191T>C
|
rs574005997
|
0.00008
|
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)
|
rs199723613
|
0.00007
|
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)
|
rs375241473
|
0.00007
|
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro)
|
rs1800294
|
0.00007
|
NM_000166.6(GJB1):c.-128G>A
|
rs1057515983
|
0.00007
|
NM_000283.4(PDE6B):c.787A>G (p.Thr263Ala)
|
rs761281062
|
0.00007
|
NM_001004334.4(GPR179):c.4047G>A (p.Ala1349=)
|
rs201461684
|
0.00007
|
NM_001252024.2(TRPM1):c.2514C>T (p.Ile838=)
|
rs376705938
|
0.00007
|
NM_001252024.2(TRPM1):c.3624T>C (p.Ser1208=)
|
rs370122578
|
0.00007
|
NM_004727.3(SLC24A1):c.1890+6G>A
|
rs375850066
|
0.00007
|
NM_004727.3(SLC24A1):c.1945-14C>G
|
rs761704353
|
0.00007
|
NM_004727.3(SLC24A1):c.2884-9G>A
|
rs374590721
|
0.00007
|
NM_144499.3(GNAT1):c.882C>T (p.Asp294=)
|
rs775329814
|
0.00007
|
NM_145200.5(CABP4):c.*1527C>T
|
rs547246461
|
0.00007
|
NM_145200.5(CABP4):c.816C>T (p.Leu272=)
|
rs371952355
|
0.00007
|
NM_000283.4(PDE6B):c.*611G>A
|
rs1374125665
|
0.00006
|
NM_000539.3(RHO):c.*551G>A
|
rs933661466
|
0.00006
|
NM_001004334.4(GPR179):c.1217G>A (p.Arg406His)
|
rs770208418
|
0.00006
|
NM_001004334.4(GPR179):c.2809G>A (p.Val937Ile)
|
rs765764314
|
0.00006
|
NM_001004334.4(GPR179):c.3400C>T (p.Arg1134Trp)
|
rs376874534
|
0.00006
|
NM_001004334.4(GPR179):c.3806C>T (p.Thr1269Met)
|
rs754266923
|
0.00006
|
NM_001004334.4(GPR179):c.4188A>G (p.Gln1396=)
|
rs201368251
|
0.00006
|
NM_001004334.4(GPR179):c.4739C>T (p.Pro1580Leu)
|
rs778263955
|
0.00006
|
NM_001004334.4(GPR179):c.983C>T (p.Pro328Leu)
|
rs370808770
|
0.00006
|
NM_001252024.2(TRPM1):c.2246C>G (p.Thr749Ser)
|
rs371356729
|
0.00006
|
NM_001252024.2(TRPM1):c.2285G>C (p.Arg762Thr)
|
rs199546092
|
0.00006
|
NM_001252024.2(TRPM1):c.2888G>A (p.Arg963His)
|
rs771644561
|
0.00006
|
NM_001378477.3(NYX):c.*140G>A
|
rs1011570912
|
0.00006
|
NM_004727.3(SLC24A1):c.175C>G (p.Pro59Ala)
|
rs533092441
|
0.00006
|
NM_004727.3(SLC24A1):c.1818C>T (p.Ile606=)
|
rs368241269
|
0.00006
|
NM_004727.3(SLC24A1):c.3021G>A (p.Val1007=)
|
rs201199381
|
0.00006
|
NM_004727.3(SLC24A1):c.76C>T (p.Leu26Phe)
|
rs755508009
|
0.00006
|
NM_153252.5(BRWD3):c.*3377T>G
|
rs769363805
|
0.00006
|
NM_198506.5(LRIT3):c.327G>A (p.Glu109=)
|
rs992042707
|
0.00006
|
NM_198506.5(LRIT3):c.492A>G (p.Arg164=)
|
rs890325688
|
0.00006
|
NM_198506.5(LRIT3):c.919G>A (p.Gly307Arg)
|
rs145061437
|
0.00006
|
NM_000132.4(F8):c.2299C>T (p.His767Tyr)
|
rs782115513
|
0.00005
|
NM_000132.4(F8):c.6871A>G (p.Thr2291Ala)
|
rs139348729
|
0.00005
|
NM_000283.3(PDE6B):c.*797G>A
|
rs1463865281
|
0.00005
|
NM_000444.6(PHEX):c.*360A>C
|
rs1012718966
|
0.00005
|
NM_000539.3(RHO):c.*285G>A
|
rs1487459358
|
0.00005
|
NM_000539.3(RHO):c.697-11G>A
|
rs367631575
|
0.00005
|
NM_001004334.4(GPR179):c.1441C>T (p.Arg481Trp)
|
rs374449680
|
0.00005
|
NM_001004334.4(GPR179):c.3411G>A (p.Ala1137=)
|
rs539071271
|
0.00005
|
NM_001004334.4(GPR179):c.522C>T (p.Ile174=)
|
rs377062748
|
0.00005
|
NM_001011658.4(TRAPPC2):c.*1287G>T
|
rs1165831875
|
0.00005
|
NM_001011658.4(TRAPPC2):c.*308G>A
|
rs1457504825
|
0.00005
|
NM_001011658.4(TRAPPC2):c.*323T>G
|
rs1057515792
|
0.00005
|
NM_001011658.4(TRAPPC2):c.*435A>G
|
rs368897746
|
0.00005
|
NM_001252024.2(TRPM1):c.1890C>T (p.Phe630=)
|
rs369315253
|
0.00005
|
NM_001378477.3(NYX):c.-57+99T>C
|
rs945750526
|
0.00005
|
NM_001378477.3(NYX):c.368C>T (p.Ala123Val)
|
rs778437203
|
0.00005
|
NM_002351.5(SH2D1A):c.*1077G>A
|
rs778956197
|
0.00005
|
NM_002351.5(SH2D1A):c.*1192A>G
|
rs1355524556
|
0.00005
|
NM_002351.5(SH2D1A):c.*647G>A
|
rs770056649
|
0.00005
|
NM_002764.4(PRPS1):c.*538G>T
|
rs1057515727
|
0.00005
|
NM_004727.3(SLC24A1):c.1911G>A (p.Ala637=)
|
rs372995067
|
0.00005
|
NM_145200.5(CABP4):c.69G>A (p.Ala23=)
|
rs775292545
|
0.00005
|
NM_153252.5(BRWD3):c.*121C>G
|
rs760166411
|
0.00005
|
NM_153252.5(BRWD3):c.*1820G>C
|
rs960827578
|
0.00005
|
NM_153252.5(BRWD3):c.*2626C>T
|
rs1028184110
|
0.00005
|
NM_171998.4(RAB39B):c.*2100C>T
|
rs1057515827
|
0.00005
|
NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln)
|
rs372675935
|
0.00004
|
NM_000032.5(ALAS2):c.416-11T>C
|
rs977637650
|
0.00004
|
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys)
|
rs781850760
|
0.00004
|
NM_000132.4(F8):c.*460G>A
|
rs782195878
|
0.00004
|
NM_000132.4(F8):c.3534G>C (p.Lys1178Asn)
|
rs1279491966
|
0.00004
|
NM_000283.4(PDE6B):c.*381C>T
|
rs1023673457
|
0.00004
|
NM_000283.4(PDE6B):c.698C>T (p.Thr233Met)
|
rs752852029
|
0.00004
|
NM_000283.4(PDE6B):c.789G>A (p.Thr263=)
|
rs138789637
|
0.00004
|
NM_001004334.4(GPR179):c.1589G>A (p.Ser530Asn)
|
rs371905233
|
0.00004
|
NM_001004334.4(GPR179):c.7035C>T (p.Gly2345=)
|
rs368426715
|
0.00004
|
NM_001250.6(CD40):c.*119C>T
|
rs746182207
|
0.00004
|
NM_001250.6(CD40):c.*216A>C
|
rs886056719
|
0.00004
|
NM_001252024.2(TRPM1):c.-101A>G
|
rs574197357
|
0.00004
|
NM_001252024.2(TRPM1):c.1905C>T (p.His635=)
|
rs377099385
|
0.00004
|
NM_001252024.2(TRPM1):c.2169C>T (p.Tyr723=)
|
rs370305789
|
0.00004
|
NM_001252024.2(TRPM1):c.2542G>A (p.Ala848Thr)
|
rs376766834
|
0.00004
|
NM_001252024.2(TRPM1):c.602A>T (p.Asp201Val)
|
rs761283836
|
0.00004
|
NM_002764.4(PRPS1):c.*423T>A
|
rs1397267425
|
0.00004
|
NM_002764.4(PRPS1):c.*726C>T
|
rs1012116674
|
0.00004
|
NM_004727.3(SLC24A1):c.*1608C>T
|
rs886051358
|
0.00004
|
NM_004727.3(SLC24A1):c.2166G>A (p.Ala722=)
|
rs565350549
|
0.00004
|
NM_004727.3(SLC24A1):c.2349T>C (p.Gly783=)
|
rs886051351
|
0.00004
|
NM_004727.3(SLC24A1):c.2917A>G (p.Met973Val)
|
rs201810804
|
0.00004
|
NM_144499.3(GNAT1):c.*2046G>C
|
rs942292553
|
0.00004
|
NM_144499.3(GNAT1):c.*2267C>T
|
rs886058693
|
0.00004
|
NM_144499.3(GNAT1):c.773C>T (p.Thr258Met)
|
rs769077570
|
0.00004
|
NM_145200.5(CABP4):c.*1510T>C
|
rs1303691994
|
0.00004
|
NM_153252.5(BRWD3):c.*5773A>C
|
rs765604641
|
0.00004
|
NM_198506.5(LRIT3):c.1238C>T (p.Ser413Phe)
|
rs770968977
|
0.00004
|
NM_000132.4(F8):c.*1175G>C
|
rs950453657
|
0.00003
|
NM_000132.4(F8):c.*288C>A
|
rs1044626956
|
0.00003
|
NM_000166.6(GJB1):c.*22C>T
|
rs745547989
|
0.00003
|
NM_000283.4(PDE6B):c.1426G>A (p.Glu476Lys)
|
rs746783836
|
0.00003
|
NM_000283.4(PDE6B):c.387G>T (p.Glu129Asp)
|
rs752303143
|
0.00003
|
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)
|
rs770657036
|
0.00003
|
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met)
|
rs371825581
|
0.00003
|
NM_000539.3(RHO):c.*115G>A
|
rs886057969
|
0.00003
|
NM_000539.3(RHO):c.*1294A>G
|
rs1047324551
|
0.00003
|
NM_000539.3(RHO):c.*440C>G
|
rs886057971
|
0.00003
|
NM_000539.3(RHO):c.440G>A (p.Arg147His)
|
rs746468201
|
0.00003
|
NM_001004334.4(GPR179):c.*304A>G
|
rs541537671
|
0.00003
|
NM_001004334.4(GPR179):c.*522C>T
|
rs147084359
|
0.00003
|
NM_001004334.4(GPR179):c.131C>A (p.Pro44Gln)
|
rs376962885
|
0.00003
|
NM_001004334.4(GPR179):c.1466G>A (p.Arg489Gln)
|
rs551972571
|
0.00003
|
NM_001004334.4(GPR179):c.2332C>T (p.Arg778Cys)
|
rs759512521
|
0.00003
|
NM_001004334.4(GPR179):c.2348C>T (p.Pro783Leu)
|
rs200492514
|
0.00003
|
NM_001004334.4(GPR179):c.5774T>G (p.Phe1925Cys)
|
rs770905475
|
0.00003
|
NM_001004334.4(GPR179):c.6351G>A (p.Trp2117Ter)
|
rs766582295
|
0.00003
|
NM_001011658.4(TRAPPC2):c.*1442C>T
|
rs771455096
|
0.00003
|
NM_001011658.4(TRAPPC2):c.-19-3T>C
|
rs781420575
|
0.00003
|
NM_001032382.2(PQBP1):c.*8G>A
|
rs376272913
|
0.00003
|
NM_001167.4(XIAP):c.*2488C>T
|
rs1192771463
|
0.00003
|
NM_001167.4(XIAP):c.*253C>T
|
rs1057515749
|
0.00003
|
NM_001167.4(XIAP):c.*3845A>G
|
rs958117071
|
0.00003
|
NM_001250.6(CD40):c.*338A>G
|
rs886056721
|
0.00003
|
NM_001252024.2(TRPM1):c.-143G>C
|
rs995949757
|
0.00003
|
NM_001252024.2(TRPM1):c.3191T>G (p.Leu1064Arg)
|
rs200561247
|
0.00003
|
NM_001252024.2(TRPM1):c.3563A>T (p.His1188Leu)
|
rs577672274
|
0.00003
|
NM_001378477.3(NYX):c.-56-45T>G
|
rs755997910
|
0.00003
|
NM_001378477.3(NYX):c.787C>G (p.Arg263Gly)
|
rs375834225
|
0.00003
|
NM_002351.5(SH2D1A):c.*860T>C
|
rs1057515764
|
0.00003
|
NM_004727.3(SLC24A1):c.*1474A>G
|
rs886051357
|
0.00003
|
NM_004727.3(SLC24A1):c.*2027G>A
|
rs886051359
|
0.00003
|
NM_004727.3(SLC24A1):c.2782G>A (p.Val928Ile)
|
rs536096021
|
0.00003
|
NM_004727.3(SLC24A1):c.2794-11C>A
|
rs879718216
|
0.00003
|
NM_004727.3(SLC24A1):c.980C>T (p.Thr327Ile)
|
rs746176031
|
0.00003
|
NM_014332.3(SMPX):c.-103C>T
|
rs1301418010
|
0.00003
|
NM_144499.3(GNAT1):c.*1379G>A
|
rs886058689
|
0.00003
|
NM_144499.3(GNAT1):c.*1991G>A
|
rs886058690
|
0.00003
|
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)
|
rs374913800
|
0.00003
|
NM_145200.5(CABP4):c.*1939A>G
|
rs886048574
|
0.00003
|
NM_145200.5(CABP4):c.*2089T>C
|
rs886048576
|
0.00003
|
NM_145200.5(CABP4):c.*2187G>C
|
rs886048579
|
0.00003
|
NM_153252.5(BRWD3):c.*2413T>A
|
rs1009993995
|
0.00003
|
NM_171998.4(RAB39B):c.*65A>G
|
rs900423679
|
0.00003
|
NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp)
|
rs538101562
|
0.00003
|
NM_000032.5(ALAS2):c.1638C>G (p.Pro546=)
|
rs763266087
|
0.00002
|
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys)
|
rs754772558
|
0.00002
|
NM_000033.4(ABCD1):c.*450T>A
|
rs1479983733
|
0.00002
|
NM_000033.4(ABCD1):c.-10C>T
|
rs782754717
|
0.00002
|
NM_000054.7(AVPR2):c.*129C>T
|
rs782022257
|
0.00002
|
NM_000054.7(AVPR2):c.69C>T (p.Ser23=)
|
rs377144623
|
0.00002
|
NM_000132.4(F8):c.*1362A>T
|
rs1032816312
|
0.00002
|
NM_000132.4(F8):c.*915G>A
|
rs1259930797
|
0.00002
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000283.4(PDE6B):c.258C>T (p.Leu86=)
|
rs886059520
|
0.00002
|
NM_000283.4(PDE6B):c.297G>A (p.Gln99=)
|
rs768652560
|
0.00002
|
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys)
|
rs398123299
|
0.00002
|
NM_000283.4(PDE6B):c.316C>T (p.Leu106=)
|
rs752429712
|
0.00002
|
NM_000283.4(PDE6B):c.469-5G>A
|
rs530695084
|
0.00002
|
NM_000307.5(POU3F4):c.*297T>C
|
rs1297004201
|
0.00002
|
NM_000444.6(PHEX):c.1374T>C (p.Asp458=)
|
rs370746437
|
0.00002
|
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val)
|
rs773244112
|
0.00002
|
NM_000539.3(RHO):c.205C>T (p.Arg69Cys)
|
rs761101263
|
0.00002
|
NM_001004334.4(GPR179):c.2150G>A (p.Arg717His)
|
rs757722345
|
0.00002
|
NM_001004334.4(GPR179):c.2581G>A (p.Glu861Lys)
|
rs756212907
|
0.00002
|
NM_001004334.4(GPR179):c.3442G>A (p.Asp1148Asn)
|
rs202183326
|
0.00002
|
NM_001004334.4(GPR179):c.4180C>G (p.Pro1394Ala)
|
rs371158139
|
0.00002
|
NM_001004334.4(GPR179):c.4555G>A (p.Glu1519Lys)
|
rs201569873
|
0.00002
|
NM_001004334.4(GPR179):c.663G>T (p.Val221=)
|
rs547308706
|
0.00002
|
NM_001011658.4(TRAPPC2):c.*332C>T
|
rs1448063407
|
0.00002
|
NM_001011658.4(TRAPPC2):c.*703G>A
|
rs554971161
|
0.00002
|
NM_001032382.2(PQBP1):c.-18-196A>G
|
rs1006576758
|
0.00002
|
NM_001167.4(XIAP):c.*4691G>A
|
rs982138652
|
0.00002
|
NM_001167.4(XIAP):c.-142G>C
|
rs1452980309
|
0.00002
|
NM_001252024.2(TRPM1):c.1764G>C (p.Arg588Ser)
|
rs779709494
|
0.00002
|
NM_001252024.2(TRPM1):c.2778C>T (p.Leu926=)
|
rs761531039
|
0.00002
|
NM_001252024.2(TRPM1):c.4501C>T (p.Arg1501Cys)
|
rs561717036
|
0.00002
|
NM_001252024.2(TRPM1):c.942G>A (p.Ala314=)
|
rs768420045
|
0.00002
|
NM_001271696.3(ABCB7):c.1935+5G>C
|
rs763223675
|
0.00002
|
NM_001330574.2(ZNF711):c.1773A>G (p.Gln591=)
|
rs370054764
|
0.00002
|
NM_001330574.2(ZNF711):c.1926C>A (p.Asp642Glu)
|
rs780662376
|
0.00002
|
NM_001378477.3(NYX):c.*744C>T
|
rs780639009
|
0.00002
|
NM_002578.5(PAK3):c.-160G>A
|
rs756835310
|
0.00002
|
NM_004727.3(SLC24A1):c.*295G>A
|
rs886051353
|
0.00002
|
NM_004727.3(SLC24A1):c.1287C>T (p.Pro429=)
|
rs769956786
|
0.00002
|
NM_004727.3(SLC24A1):c.2226C>T (p.Gly742=)
|
rs372137068
|
0.00002
|
NM_004727.3(SLC24A1):c.2533G>A (p.Glu845Lys)
|
rs532808985
|
0.00002
|
NM_004727.3(SLC24A1):c.3051-9A>G
|
rs774208027
|
0.00002
|
NM_004727.3(SLC24A1):c.3179C>T (p.Ala1060Val)
|
rs760183851
|
0.00002
|
NM_004840.2(ARHGEF6):c.-222T>A
|
rs968152666
|
0.00002
|
NM_014271.4(IL1RAPL1):c.-402G>A
|
rs1057515846
|
0.00002
|
NM_014271.4(IL1RAPL1):c.-405T>A
|
rs762456633
|
0.00002
|
NM_014271.4(IL1RAPL1):c.1602G>A (p.Leu534=)
|
rs1242850856
|
0.00002
|
NM_014271.4(IL1RAPL1):c.408T>C (p.Gly136=)
|
rs1397912387
|
0.00002
|
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met)
|
rs143865753
|
0.00002
|
NM_144499.3(GNAT1):c.165C>T (p.Asp55=)
|
rs776566245
|
0.00002
|
NM_145200.5(CABP4):c.*1063G>A
|
rs191030743
|
0.00002
|
NM_145200.5(CABP4):c.*2098C>T
|
rs886048577
|
0.00002
|
NM_145200.5(CABP4):c.*26C>T
|
rs747352890
|
0.00002
|
NM_145200.5(CABP4):c.*2958T>C
|
rs936395339
|
0.00002
|
NM_145200.5(CABP4):c.230G>C (p.Gly77Ala)
|
rs748865845
|
0.00002
|
NM_153252.5(BRWD3):c.*1394G>C
|
rs1314935865
|
0.00002
|
NM_153252.5(BRWD3):c.*248C>T
|
rs538786513
|
0.00002
|
NM_153252.5(BRWD3):c.*4661A>G
|
rs1439226627
|
0.00002
|
NM_153252.5(BRWD3):c.*799C>A
|
rs985109628
|
0.00002
|
NM_153252.5(BRWD3):c.96A>G (p.Leu32=)
|
rs1034284582
|
0.00002
|
NM_171998.4(RAB39B):c.*1428T>G
|
rs1057515831
|
0.00002
|
NM_198506.5(LRIT3):c.332G>A (p.Arg111His)
|
rs867751556
|
0.00002
|
NM_000032.5(ALAS2):c.110G>A (p.Arg37His)
|
rs756790340
|
0.00001
|
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=)
|
rs765603040
|
0.00001
|
NM_000032.5(ALAS2):c.1458C>T (p.Asn486=)
|
rs772107960
|
0.00001
|
NM_000033.4(ABCD1):c.*287G>A
|
rs1169661425
|
0.00001
|
NM_000033.4(ABCD1):c.*360C>T
|
rs1281220823
|
0.00001
|
NM_000033.4(ABCD1):c.*530G>A
|
rs67211405
|
0.00001
|
NM_000033.4(ABCD1):c.*621C>T
|
rs1383766741
|
0.00001
|
NM_000054.7(AVPR2):c.*119G>A
|
rs782425427
|
0.00001
|
NM_000054.7(AVPR2):c.*136T>G
|
rs782141948
|
0.00001
|
NM_000054.7(AVPR2):c.-48G>C
|
rs782204150
|
0.00001
|
NM_000054.7(AVPR2):c.837C>G (p.Val279=)
|
rs781801367
|
0.00001
|
NM_000132.4(F8):c.*975A>G
|
rs892955433
|
0.00001
|
NM_000132.4(F8):c.-157A>G
|
rs1057515826
|
0.00001
|
NM_000132.4(F8):c.1173C>T (p.Arg391=)
|
rs1411642179
|
0.00001
|
NM_000132.4(F8):c.1587A>G (p.Lys529=)
|
rs1369480074
|
0.00001
|
NM_000132.4(F8):c.4411A>G (p.Met1471Val)
|
rs782058716
|
0.00001
|
NM_000132.4(F8):c.5063C>T (p.Ser1688Leu)
|
rs782235155
|
0.00001
|
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)
|
rs200433372
|
0.00001
|
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)
|
rs782198570
|
0.00001
|
NM_000132.4(F8):c.978A>G (p.Leu326=)
|
rs782374508
|
0.00001
|
NM_000166.6(GJB1):c.*443G>A
|
rs533182215
|
0.00001
|
NM_000283.3(PDE6B):c.*692G>A
|
rs1444528398
|
0.00001
|
NM_000283.4(PDE6B):c.*187G>A
|
rs1014159767
|
0.00001
|
NM_000283.4(PDE6B):c.*215A>G
|
rs1040628827
|
0.00001
|
NM_000283.4(PDE6B):c.*279G>A
|
rs886059548
|
0.00001
|
NM_000283.4(PDE6B):c.109G>A (p.Glu37Lys)
|
rs376908835
|
0.00001
|
NM_000283.4(PDE6B):c.1459G>A (p.Glu487Lys)
|
rs139369984
|
0.00001
|
NM_000283.4(PDE6B):c.2091G>A (p.Glu697=)
|
rs886059545
|
0.00001
|
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)
|
rs780521818
|
0.00001
|
NM_000283.4(PDE6B):c.932T>C (p.Ile311Thr)
|
rs886059543
|
0.00001
|
NM_000381.4(MID1):c.107G>A (p.Arg36His)
|
rs1270080835
|
0.00001
|
NM_000444.6(PHEX):c.285C>G (p.Pro95=)
|
rs1057515842
|
0.00001
|
NM_000539.3(RHO):c.*1144C>T
|
rs886057977
|
0.00001
|
NM_000539.3(RHO):c.48G>A (p.Ala16=)
|
rs766112074
|
0.00001
|
NM_000539.3(RHO):c.732G>A (p.Gln244=)
|
rs148222991
|
0.00001
|
NM_000539.3(RHO):c.754C>T (p.Arg252Cys)
|
rs752805805
|
0.00001
|
NM_000539.3(RHO):c.87C>T (p.Tyr29=)
|
rs149084537
|
0.00001
|
NM_000539.3(RHO):c.962T>A (p.Ile321Asn)
|
rs1316267671
|
0.00001
|
NM_001004334.4(GPR179):c.*359C>G
|
rs143494935
|
0.00001
|
NM_001004334.4(GPR179):c.1070T>C (p.Leu357Pro)
|
rs747110718
|
0.00001
|
NM_001004334.4(GPR179):c.1417C>T (p.Leu473=)
|
rs762389933
|
0.00001
|
NM_001004334.4(GPR179):c.1785-3C>T
|
rs1394125999
|
0.00001
|
NM_001004334.4(GPR179):c.180C>T (p.Leu60=)
|
rs770286670
|
0.00001
|
NM_001004334.4(GPR179):c.1947C>T (p.Asp649=)
|
rs372049950
|
0.00001
|
NM_001004334.4(GPR179):c.2149C>T (p.Arg717Cys)
|
rs767911479
|
0.00001
|
NM_001004334.4(GPR179):c.272T>C (p.Leu91Pro)
|
rs867417666
|
0.00001
|
NM_001004334.4(GPR179):c.296C>T (p.Ala99Val)
|
rs201405656
|
0.00001
|
NM_001004334.4(GPR179):c.3110T>C (p.Val1037Ala)
|
rs2037343188
|
0.00001
|
NM_001004334.4(GPR179):c.3349G>A (p.Gly1117Arg)
|
rs771334464
|
0.00001
|
NM_001004334.4(GPR179):c.3357G>A (p.Ala1119=)
|
rs547577586
|
0.00001
|
NM_001004334.4(GPR179):c.3447C>T (p.Asp1149=)
|
rs1262445850
|
0.00001
|
NM_001004334.4(GPR179):c.3466C>G (p.Gln1156Glu)
|
rs1184314233
|
0.00001
|
NM_001004334.4(GPR179):c.4071G>A (p.Lys1357=)
|
rs1168693630
|
0.00001
|
NM_001004334.4(GPR179):c.4810G>T (p.Glu1604Ter)
|
rs1464221989
|
0.00001
|
NM_001004334.4(GPR179):c.489C>T (p.Ala163=)
|
rs749471277
|
0.00001
|
NM_001004334.4(GPR179):c.4996C>T (p.Gln1666Ter)
|
rs1460626520
|
0.00001
|
NM_001004334.4(GPR179):c.5639A>G (p.Asp1880Gly)
|
rs745835590
|
0.00001
|
NM_001004334.4(GPR179):c.6457G>A (p.Gly2153Arg)
|
rs757565461
|
0.00001
|
NM_001004334.4(GPR179):c.6621C>T (p.Ser2207=)
|
rs781391422
|
0.00001
|
NM_001004334.4(GPR179):c.6965C>T (p.Thr2322Ile)
|
rs759484427
|
0.00001
|
NM_001004334.4(GPR179):c.858A>G (p.Pro286=)
|
rs758285150
|
0.00001
|
NM_001004334.4(GPR179):c.952C>T (p.Arg318Cys)
|
rs773004800
|
0.00001
|
NM_001004334.4(GPR179):c.98G>A (p.Arg33His)
|
rs886052900
|
0.00001
|
NM_001011658.4(TRAPPC2):c.*1191C>T
|
rs1057515789
|
0.00001
|
NM_001011658.4(TRAPPC2):c.*690T>C
|
rs1478481249
|
0.00001
|
NM_001032382.2(PQBP1):c.642-9C>A
|
rs782015028
|
0.00001
|
NM_001167.4(XIAP):c.*1869G>A
|
rs1225539193
|
0.00001
|
NM_001167.4(XIAP):c.*1950C>T
|
rs1404651190
|
0.00001
|
NM_001167.4(XIAP):c.*3205T>C
|
rs777738703
|
0.00001
|
NM_001167.4(XIAP):c.*3673C>T
|
rs1304742588
|
0.00001
|
NM_001167.4(XIAP):c.*3997A>G
|
rs1057515755
|
0.00001
|
NM_001167.4(XIAP):c.*5986G>A
|
rs1037241174
|
0.00001
|
NM_001167.4(XIAP):c.*6009C>T
|
rs1183404777
|
0.00001
|
NM_001167.4(XIAP):c.*6256T>C
|
rs972613558
|
0.00001
|
NM_001252024.2(TRPM1):c.*350C>G
|
rs934884046
|
0.00001
|
NM_001252024.2(TRPM1):c.1126G>A (p.Asp376Asn)
|
rs765946115
|
0.00001
|
NM_001252024.2(TRPM1):c.1333A>C (p.Thr445Pro)
|
rs886051031
|
0.00001
|
NM_001252024.2(TRPM1):c.1455A>G (p.Gln485=)
|
rs755094572
|
0.00001
|
NM_001252024.2(TRPM1):c.1623+5G>A
|
rs765895314
|
0.00001
|
NM_001252024.2(TRPM1):c.1867G>A (p.Asp623Asn)
|
rs769362413
|
0.00001
|
NM_001252024.2(TRPM1):c.191G>C (p.Trp64Ser)
|
rs754980973
|
0.00001
|
NM_001252024.2(TRPM1):c.2087+6T>C
|
rs760758606
|
0.00001
|
NM_001252024.2(TRPM1):c.2268C>T (p.Thr756=)
|
rs756489745
|
0.00001
|
NM_001252024.2(TRPM1):c.2269G>A (p.Asp757Asn)
|
rs369155075
|
0.00001
|
NM_001252024.2(TRPM1):c.2308G>A (p.Gly770Ser)
|
rs746594891
|
0.00001
|
NM_001252024.2(TRPM1):c.2317-1G>C
|
rs756690940
|
0.00001
|
NM_001252024.2(TRPM1):c.2440-2A>G
|
rs762634272
|
0.00001
|
NM_001252024.2(TRPM1):c.2834A>G (p.Tyr945Cys)
|
rs756380069
|
0.00001
|
NM_001252024.2(TRPM1):c.3148+1G>A
|
rs779821510
|
0.00001
|
NM_001252024.2(TRPM1):c.3533A>G (p.His1178Arg)
|
rs776483887
|
0.00001
|
NM_001252024.2(TRPM1):c.378T>C (p.His126=)
|
rs769783908
|
0.00001
|
NM_001252024.2(TRPM1):c.386T>C (p.Leu129Pro)
|
rs2034428006
|
0.00001
|
NM_001252024.2(TRPM1):c.4838A>T (p.Lys1613Met)
|
rs753089696
|
0.00001
|
NM_001252024.2(TRPM1):c.494-8G>A
|
rs757371423
|
0.00001
|
NM_001252024.2(TRPM1):c.75C>T (p.Asp25=)
|
rs777321357
|
0.00001
|
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=)
|
rs1175852840
|
0.00001
|
NM_001271696.3(ABCB7):c.168+13T>C
|
rs1057515989
|
0.00001
|
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg)
|
rs141119655
|
0.00001
|
NM_001271696.3(ABCB7):c.2073T>C (p.His691=)
|
rs781524899
|
0.00001
|
NM_001368397.1(FRMPD4):c.572C>T (p.Ser191Leu)
|
rs1263695778
|
0.00001
|
NM_002351.5(SH2D1A):c.*26A>T
|
rs1240769541
|
0.00001
|
NM_002578.5(PAK3):c.862A>G (p.Ile288Val)
|
rs2094566106
|
0.00001
|
NM_004727.3(SLC24A1):c.*1363G>A
|
rs886051356
|
0.00001
|
NM_004727.3(SLC24A1):c.*1616A>T
|
rs1433961660
|
0.00001
|
NM_004727.3(SLC24A1):c.*203G>A
|
rs1022815934
|
0.00001
|
NM_004727.3(SLC24A1):c.*2040T>C
|
rs927721327
|
0.00001
|
NM_004727.3(SLC24A1):c.-127+10G>A
|
rs562775135
|
0.00001
|
NM_004727.3(SLC24A1):c.-49T>C
|
rs777522531
|
0.00001
|
NM_004727.3(SLC24A1):c.134G>A (p.Arg45Gln)
|
rs886051348
|
0.00001
|
NM_004727.3(SLC24A1):c.1441C>G (p.Leu481Val)
|
rs755476531
|
0.00001
|
NM_004727.3(SLC24A1):c.1892C>T (p.Pro631Leu)
|
rs771446643
|
0.00001
|
NM_004727.3(SLC24A1):c.3206T>A (p.Ile1069Asn)
|
rs771727416
|
0.00001
|
NM_007137.5(ZNF81):c.*2171_*2172del
|
rs1057515913
|
0.00001
|
NM_015107.3(PHF8):c.1731-2A>G
|
rs1437750762
|
0.00001
|
NM_017875.4(SLC25A38):c.-325G>C
|
rs886058467
|
0.00001
|
NM_031407.7(HUWE1):c.5662G>A (p.Val1888Met)
|
rs782222601
|
0.00001
|
NM_144499.3(GNAT1):c.*1101C>T
|
rs886058687
|
0.00001
|
NM_144499.3(GNAT1):c.*2074T>C
|
rs886058691
|
0.00001
|
NM_144499.3(GNAT1):c.*2129G>A
|
rs886058692
|
0.00001
|
NM_144499.3(GNAT1):c.*678C>T
|
rs1004131014
|
0.00001
|
NM_144499.3(GNAT1):c.926G>C (p.Arg309Pro)
|
rs367790137
|
0.00001
|
NM_145200.5(CABP4):c.*1402G>A
|
rs949888937
|
0.00001
|
NM_145200.5(CABP4):c.*1662G>A
|
rs1257789507
|
0.00001
|
NM_145200.5(CABP4):c.*1827C>T
|
rs886048566
|
0.00001
|
NM_145200.5(CABP4):c.*1957A>G
|
rs1181533164
|
0.00001
|
NM_145200.5(CABP4):c.*2438G>A
|
rs886048582
|
0.00001
|
NM_145200.5(CABP4):c.*2583C>T
|
rs886048583
|
0.00001
|
NM_145200.5(CABP4):c.*295G>A
|
rs181113902
|
0.00001
|
NM_145200.5(CABP4):c.*669T>C
|
rs886048564
|
0.00001
|
NM_145200.5(CABP4):c.228T>G (p.Thr76=)
|
rs1050306159
|
0.00001
|
NM_145200.5(CABP4):c.367-8C>T
|
rs200871690
|
0.00001
|
NM_145200.5(CABP4):c.397G>A (p.Glu133Lys)
|
rs763497383
|
0.00001
|
NM_145200.5(CABP4):c.432C>T (p.Asp144=)
|
rs766247910
|
0.00001
|
NM_145200.5(CABP4):c.541+14C>T
|
rs886048561
|
0.00001
|
NM_153252.5(BRWD3):c.*2877G>A
|
rs187241080
|
0.00001
|
NM_153252.5(BRWD3):c.*6197T>C
|
rs1057515994
|
0.00001
|
NM_153252.5(BRWD3):c.*6248A>G
|
rs1057515993
|
0.00001
|
NM_153252.5(BRWD3):c.2943+13A>G
|
rs760769986
|
0.00001
|
NM_153252.5(BRWD3):c.3965C>T (p.Ser1322Leu)
|
rs372993559
|
0.00001
|
NM_153252.5(BRWD3):c.4263C>T (p.Ala1421=)
|
rs749607717
|
0.00001
|
NM_153252.5(BRWD3):c.4328G>C (p.Arg1443Thr)
|
rs1569244634
|
0.00001
|
NM_153252.5(BRWD3):c.637C>T (p.Arg213Cys)
|
rs777162950
|
0.00001
|
NM_153252.5(BRWD3):c.814-8T>A
|
rs1057516005
|
0.00001
|
NM_171998.4(RAB39B):c.*2366G>A
|
rs1482592329
|
0.00001
|
NM_171998.4(RAB39B):c.*485T>G
|
rs1057515833
|
0.00001
|
NM_198506.5(LRIT3):c.*1516C>A
|
rs886058987
|
0.00001
|
NM_198506.5(LRIT3):c.*82C>T
|
rs942045086
|
0.00001
|
NM_198506.5(LRIT3):c.1018G>A (p.Val340Met)
|
rs746795751
|
0.00001
|
NM_198506.5(LRIT3):c.1157T>G (p.Leu386Arg)
|
rs151283521
|
0.00001
|
NM_198506.5(LRIT3):c.1314C>A (p.Asn438Lys)
|
rs886058986
|
0.00001
|
NM_198506.5(LRIT3):c.1677G>A (p.Val559=)
|
rs762638752
|
0.00001
|
NM_198506.5(LRIT3):c.1913G>C (p.Ser638Thr)
|
rs550500577
|
0.00001
|
NM_198506.5(LRIT3):c.1966C>G (p.Leu656Val)
|
rs1195746556
|
0.00001
|
NM_198506.5(LRIT3):c.660C>T (p.Asp220=)
|
rs761469951
|
0.00001
|
NM_198506.5(LRIT3):c.667A>G (p.Ile223Val)
|
rs145327749
|
0.00001
|
NM_198506.5(LRIT3):c.966C>T (p.Asp322=)
|
rs141753583
|
0.00001
|
NM_000032.5(ALAS2):c.-16+6A>G
|
rs1935989193
|
|
NM_000032.5(ALAS2):c.146C>T (p.Ser49Phe)
|
|
|
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=)
|
rs1602244633
|
|
NM_000032.5(ALAS2):c.741C>T (p.His247=)
|
rs1057515971
|
|
NM_000033.4(ABCD1):c.*10C>T
|
rs1057515814
|
|
NM_000033.4(ABCD1):c.*12C>T
|
rs1413638807
|
|
NM_000033.4(ABCD1):c.*196C>G
|
rs367591611
|
|
NM_000033.4(ABCD1):c.*259A>G
|
rs374092960
|
|
NM_000033.4(ABCD1):c.*334C>G
|
rs1252368354
|
|
NM_000033.4(ABCD1):c.*409C>G
|
rs2091778411
|
|
NM_000033.4(ABCD1):c.*476A>G
|
rs372234126
|
|
NM_000033.4(ABCD1):c.*481G>T
|
rs199942817
|
|
NM_000033.4(ABCD1):c.*548GAGAGGG[1]
|
rs1057515816
|
|
NM_000033.4(ABCD1):c.*564G>A
|
rs782819878
|
|
NM_000033.4(ABCD1):c.*795C>T
|
rs1057515817
|
|
NM_000033.4(ABCD1):c.*802G>T
|
rs879957599
|
|
NM_000033.4(ABCD1):c.*805G>C
|
rs879979866
|
|
NM_000033.4(ABCD1):c.*825C>T
|
rs1557055736
|
|
NM_000033.4(ABCD1):c.*830A>G
|
rs1557055737
|
|
NM_000033.4(ABCD1):c.*831G>T
|
rs879964075
|
|
NM_000033.4(ABCD1):c.*870G>T
|
rs72616452
|
|
NM_000033.4(ABCD1):c.*901G>A
|
rs75637470
|
|
NM_000033.4(ABCD1):c.*911G>A
|
rs2091780866
|
|
NM_000033.4(ABCD1):c.*948C>T
|
rs112109783
|
|
NM_000033.4(ABCD1):c.*969A>G
|
rs1557055778
|
|
NM_000033.4(ABCD1):c.*980T>C
|
rs1557055787
|
|
NM_000033.4(ABCD1):c.-342G>A
|
rs912340339
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=)
|
rs141446687
|
|
NM_000033.4(ABCD1):c.22C>A (p.Arg8=)
|
rs2091702555
|
|
NM_000033.4(ABCD1):c.900+7C>T
|
rs2091712393
|
|
NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu)
|
rs142382411
|
|
NM_000054.7(AVPR2):c.*190A>C
|
rs1603282609
|
|
NM_000054.7(AVPR2):c.81G>T (p.Arg27Ser)
|
rs1221495795
|
|
NM_000132.4(F8):c.*1017C>A
|
rs1603430909
|
|
NM_000132.4(F8):c.*176G>A
|
rs2072481964
|
|
NM_000132.4(F8):c.*862A>G
|
rs1057515824
|
|
NM_000132.4(F8):c.*908T>G
|
rs2072478087
|
|
NM_000132.4(F8):c.1830A>G (p.Ile610Met)
|
rs931279960
|
|
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile)
|
rs373079141
|
|
NM_000132.4(F8):c.793A>G (p.Ile265Val)
|
rs2073445187
|
|
NM_000166.6(GJB1):c.*50G>C
|
rs2092547330
|
|
NM_000166.6(GJB1):c.-102G>A
|
rs753207004
|
|
NM_000166.6(GJB1):c.463C>A (p.Leu155Met)
|
rs1057515984
|
|
NM_000283.4(PDE6B):c.*115T>A
|
rs1194338211
|
|
NM_000283.4(PDE6B):c.*390T>C
|
rs886059549
|
|
NM_000283.4(PDE6B):c.*561C>T
|
rs886059551
|
|
NM_000283.4(PDE6B):c.*592A>G
|
rs886059552
|
|
NM_000283.4(PDE6B):c.*626T>C
|
rs886059553
|
|
NM_000283.4(PDE6B):c.1026C>T (p.Ser342=)
|
rs754298712
|
|
NM_000283.4(PDE6B):c.110A>G (p.Glu37Gly)
|
rs1208473466
|
|
NM_000283.4(PDE6B):c.117G>T (p.Gly39=)
|
rs140538420
|
|
NM_000283.4(PDE6B):c.1239G>A (p.Gln413=)
|
rs1736347354
|
|
NM_000283.4(PDE6B):c.1592G>A (p.Arg531Gln)
|
rs144664551
|
|
NM_000283.4(PDE6B):c.1804C>A (p.Arg602Ser)
|
rs754298498
|
|
NM_000283.4(PDE6B):c.1811C>G (p.Thr604Ser)
|
rs752738349
|
|
NM_000283.4(PDE6B):c.1896T>C (p.Phe632=)
|
rs1737323722
|
|
NM_000283.4(PDE6B):c.2073C>T (p.Asp691=)
|
rs886059544
|
|
NM_000283.4(PDE6B):c.2129+9G>C
|
rs753943492
|
|
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)
|
rs150639487
|
|
NM_000283.4(PDE6B):c.2174C>T (p.Pro725Leu)
|
rs886059546
|
|
NM_000283.4(PDE6B):c.2269-7C>T
|
rs1268705787
|
|
NM_000283.4(PDE6B):c.483C>T (p.Ser161=)
|
rs886059526
|
|
NM_000283.4(PDE6B):c.711+12C>T
|
rs886059527
|
|
NM_000283.4(PDE6B):c.853-9T>C
|
rs886059542
|
|
NM_000283.4(PDE6B):c.986T>C (p.Val329Ala)
|
rs1736021671
|
|
NM_000307.5(POU3F4):c.*141T>C
|
rs368408951
|
|
NM_000307.5(POU3F4):c.*41C>A
|
rs1057516008
|
|
NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe)
|
rs1178113212
|
|
NM_000444.6(PHEX):c.*250A>C
|
rs1057515844
|
|
NM_000444.6(PHEX):c.-10G>T
|
rs1057515841
|
|
NM_000444.6(PHEX):c.-126C>A
|
rs185830047
|
|
NM_000444.6(PHEX):c.1025G>A (p.Arg342His)
|
rs376461141
|
|
NM_000444.6(PHEX):c.1586+14A>T
|
rs771287470
|
|
NM_000444.6(PHEX):c.2052C>T (p.Phe684=)
|
rs373674171
|
|
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn)
|
rs1057515843
|
|
NM_000539.3(RHO):c.*1454G>A
|
rs2084812090
|
|
NM_000539.3(RHO):c.*224C>T
|
rs886057970
|
|
NM_000539.3(RHO):c.*26C>T
|
rs773347364
|
|
NM_000539.3(RHO):c.*276C>T
|
rs759322778
|
|
NM_000539.3(RHO):c.*406G>C
|
rs2084804479
|
|
NM_000539.3(RHO):c.*40C>T
|
rs886057968
|
|
NM_000539.3(RHO):c.*542G>A
|
rs369408405
|
|
NM_000539.3(RHO):c.*573C>T
|
rs2084806235
|
|
NM_000539.3(RHO):c.*633G>A
|
rs886057972
|
|
NM_000539.3(RHO):c.*645G>C
|
rs886057973
|
|
NM_000539.3(RHO):c.*670A>C
|
rs2084806843
|
|
NM_000539.3(RHO):c.*679A>G
|
rs1359424642
|
|
NM_000539.3(RHO):c.*815G>T
|
rs2084807511
|
|
NM_000539.3(RHO):c.*838A>T
|
rs886057974
|
|
NM_000539.3(RHO):c.*887G>C
|
rs886057975
|
|
NM_000539.3(RHO):c.*970C>T
|
rs886057976
|
|
NM_000539.3(RHO):c.-24G>T
|
rs771188148
|
|
NM_000539.3(RHO):c.586C>A (p.Pro196Thr)
|
rs765931092
|
|
NM_000539.3(RHO):c.614T>G (p.Ile205Ser)
|
rs886057967
|
|
NM_000539.3(RHO):c.696+12G>A
|
rs55915536
|
|
NM_000539.3(RHO):c.704C>A (p.Ala235Asp)
|
rs1390478420
|
|
NM_000539.3(RHO):c.847T>C (p.Phe283Leu)
|
rs2084790979
|
|
NM_001004334.4(GPR179):c.*17G>C
|
rs770311999
|
|
NM_001004334.4(GPR179):c.*388A>C
|
rs1018088318
|
|
NM_001004334.4(GPR179):c.*516T>C
|
rs886052893
|
|
NM_001004334.4(GPR179):c.*640G>T
|
rs2037280359
|
|
NM_001004334.4(GPR179):c.1294C>A (p.Pro432Thr)
|
rs772895584
|
|
NM_001004334.4(GPR179):c.134G>T (p.Gly45Val)
|
rs886052899
|
|
NM_001004334.4(GPR179):c.1388T>A (p.Ile463Asn)
|
rs886052897
|
|
NM_001004334.4(GPR179):c.1477C>A (p.His493Asn)
|
rs114716738
|
|
NM_001004334.4(GPR179):c.1784+9G>A
|
rs774545222
|
|
NM_001004334.4(GPR179):c.2002T>C (p.Trp668Arg)
|
rs2037374851
|
|
NM_001004334.4(GPR179):c.2413G>C (p.Glu805Gln)
|
rs199619898
|
|
NM_001004334.4(GPR179):c.2419G>A (p.Val807Met)
|
rs2037354573
|
|
NM_001004334.4(GPR179):c.2556C>T (p.Leu852=)
|
rs777488974
|
|
NM_001004334.4(GPR179):c.278dup (p.Ser94fs)
|
rs794726685
|
|
NM_001004334.4(GPR179):c.3125C>G (p.Ala1042Gly)
|
rs886052896
|
|
NM_001004334.4(GPR179):c.3364_3365del (p.Ser1122fs)
|
rs1205982736
|
|
NM_001004334.4(GPR179):c.3451G>A (p.Glu1151Lys)
|
rs1170813264
|
|
NM_001004334.4(GPR179):c.3474C>A (p.Asn1158Lys)
|
rs755044433
|
|
NM_001004334.4(GPR179):c.3518G>C (p.Ser1173Thr)
|
rs565610587
|
|
NM_001004334.4(GPR179):c.3699G>T (p.Leu1233=)
|
rs35803744
|
|
NM_001004334.4(GPR179):c.3846C>T (p.Asp1282=)
|
rs2037332515
|
|
NM_001004334.4(GPR179):c.3876G>A (p.Glu1292=)
|
rs1699475935
|
|
NM_001004334.4(GPR179):c.3919C>T (p.Arg1307Trp)
|
rs765046358
|
|
NM_001004334.4(GPR179):c.4073T>G (p.Val1358Gly)
|
rs752363198
|
|
NM_001004334.4(GPR179):c.4081C>G (p.Pro1361Ala)
|
rs1471292987
|
|
NM_001004334.4(GPR179):c.4888G>A (p.Glu1630Lys)
|
rs149998444
|
|
NM_001004334.4(GPR179):c.5119T>C (p.Trp1707Arg)
|
rs769294419
|
|
NM_001004334.4(GPR179):c.5386T>G (p.Cys1796Gly)
|
rs369190209
|
|
NM_001004334.4(GPR179):c.5769T>C (p.Gly1923=)
|
rs2037304044
|
|
NM_001004334.4(GPR179):c.6012T>A (p.Asp2004Glu)
|
rs886052895
|
|
NM_001004334.4(GPR179):c.6169G>A (p.Val2057Met)
|
rs762962801
|
|
NM_001004334.4(GPR179):c.984del (p.Ser329fs)
|
rs770066665
|
|
NM_001011658.4(TRAPPC2):c.*1436C>T
|
rs192328990
|
|
NM_001011658.4(TRAPPC2):c.*179A>T
|
rs1057515796
|
|
NM_001011658.4(TRAPPC2):c.*2060G>A
|
rs1057515788
|
|
NM_001011658.4(TRAPPC2):c.*243G>T
|
rs1057515795
|
|
NM_001011658.4(TRAPPC2):c.*465T>G
|
rs780841342
|
|
NM_001011658.4(TRAPPC2):c.*522G>A
|
rs2046249479
|
|
NM_001011658.4(TRAPPC2):c.*712A>G
|
rs1276471670
|
|
NM_001011658.4(TRAPPC2):c.*949G>T
|
rs2106707
|
|
NM_001011658.4(TRAPPC2):c.*989G>T
|
rs1449359101
|
|
NM_001011658.4(TRAPPC2):c.-179G>C
|
rs1057515797
|
|
NM_001039591.3(USP9X):c.3955T>G (p.Leu1319Val)
|
rs1243922076
|
|
NM_001079872.2(CUL4B):c.197C>A (p.Ser66Tyr)
|
|
|
NM_001079872.2(CUL4B):c.2356G>A (p.Asp786Asn)
|
|
|
NM_001167.4(XIAP):c.*2401C>T
|
rs771727226
|
|
NM_001167.4(XIAP):c.*2901T>C
|
rs1057515751
|
|
NM_001167.4(XIAP):c.*3201A>G
|
rs1057515752
|
|
NM_001167.4(XIAP):c.*3547C>G
|
rs775436856
|
|
NM_001167.4(XIAP):c.*3573G>A
|
rs1037858715
|
|
NM_001167.4(XIAP):c.*3589A>C
|
rs2053592868
|
|
NM_001167.4(XIAP):c.*4336T>G
|
rs2053603008
|
|
NM_001167.4(XIAP):c.*6211C>T
|
rs1022688672
|
|
NM_001167.4(XIAP):c.*6216G>A
|
rs1057515760
|
|
NM_001167.4(XIAP):c.*866A>G
|
rs2053568767
|
|
NM_001167.4(XIAP):c.*93T>G
|
rs2053562277
|
|
NM_001167.4(XIAP):c.1237G>A (p.Asp413Asn)
|
rs199610221
|
|
NM_001167.4(XIAP):c.1317G>C (p.Glu439Asp)
|
rs2053559883
|
|
NM_001250.6(CD40):c.647-4_647-3dup
|
rs749590513
|
|
NM_001252024.2(TRPM1):c.*240G>T
|
rs138295515
|
|
NM_001252024.2(TRPM1):c.*250T>C
|
rs2031763037
|
|
NM_001252024.2(TRPM1):c.*651C>T
|
rs184781100
|
|
NM_001252024.2(TRPM1):c.*65A>G
|
rs2031769261
|
|
NM_001252024.2(TRPM1):c.108C>A (p.Asn36Lys)
|
rs886051034
|
|
NM_001252024.2(TRPM1):c.1265C>T (p.Pro422Leu)
|
rs2033921068
|
|
NM_001252024.2(TRPM1):c.1525A>G (p.Met509Val)
|
rs2033876591
|
|
NM_001252024.2(TRPM1):c.2268C>A (p.Thr756=)
|
rs756489745
|
|
NM_001252024.2(TRPM1):c.2440-13C>A
|
rs751355642
|
|
NM_001252024.2(TRPM1):c.254del (p.Gly85fs)
|
rs1567032774
|
|
NM_001252024.2(TRPM1):c.2572A>G (p.Ile858Val)
|
rs886051030
|
|
NM_001252024.2(TRPM1):c.2653A>C (p.Ile885Leu)
|
rs201650867
|
|
NM_001252024.2(TRPM1):c.2843A>G (p.Tyr948Cys)
|
rs1356433853
|
|
NM_001252024.2(TRPM1):c.3187C>T (p.Arg1063Trp)
|
rs184390324
|
|
NM_001252024.2(TRPM1):c.330G>T (p.Met110Ile)
|
rs886051033
|
|
NM_001252024.2(TRPM1):c.3590del (p.Gln1197fs)
|
rs1566996007
|
|
NM_001252024.2(TRPM1):c.3666dup (p.Glu1223Ter)
|
rs1566982738
|
|
NM_001252024.2(TRPM1):c.4286T>C (p.Ile1429Thr)
|
rs886051029
|
|
NM_001252024.2(TRPM1):c.4694T>C (p.Leu1565Ser)
|
rs2031784574
|
|
NM_001252024.2(TRPM1):c.493+13C>T
|
rs372144508
|
|
NM_001252024.2(TRPM1):c.846G>C (p.Val282=)
|
rs773186865
|
|
NM_001252024.2(TRPM1):c.970A>G (p.Ile324Val)
|
rs886051032
|
|
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=)
|
rs72554634
|
|
NM_001324144.2(ZNF41):c.-280+483GCACGC[3]
|
rs200168272
|
|
NM_001324144.2(ZNF41):c.-280+494_-280+495insCGCGCACGCG
|
rs372112867
|
|
NM_001330574.2(ZNF711):c.*188A>G
|
rs1057516016
|
|
NM_001330574.2(ZNF711):c.*524C>T
|
rs1931629284
|
|
NM_001330574.2(ZNF711):c.*965T>A
|
rs1931660931
|
|
NM_001330574.2(ZNF711):c.-350G>T
|
rs1057516013
|
|
NM_001330574.2(ZNF711):c.-439dup
|
rs1057516012
|
|
NM_001330574.2(ZNF711):c.-449delinsGGCGGCGGCG
|
rs1057516011
|
|
NM_001330574.2(ZNF711):c.1073C>G (p.Ser358Cys)
|
rs1931282299
|
|
NM_001330574.2(ZNF711):c.2162C>T (p.Pro721Leu)
|
rs1057516014
|
|
NM_001363.5(DKC1):c.691G>A (p.Val231Met)
|
|
|
NM_001378477.3(NYX):c.*157C>G
|
rs1057515884
|
|
NM_001378477.3(NYX):c.*16del
|
rs762960396
|
|
NM_001378477.3(NYX):c.*72T>C
|
rs1057515883
|
|
NM_001378477.3(NYX):c.*734_*735dup
|
rs201620180
|
|
NM_001378477.3(NYX):c.148C>T (p.Arg50Trp)
|
rs1287556040
|
|
NM_001378477.3(NYX):c.645C>G (p.Ala215=)
|
rs924692905
|
|
NM_001378477.3(NYX):c.722C>T (p.Pro241Leu)
|
rs763017414
|
|
NM_001830.4(CLCN4):c.1078C>T (p.Arg360Cys)
|
rs1602157389
|
|
NM_002351.5(SH2D1A):c.*1753A>G
|
rs867794698
|
|
NM_002351.5(SH2D1A):c.*759G>C
|
rs1057515763
|
|
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser)
|
rs2060068721
|
|
NM_002578.5(PAK3):c.*249G>T
|
rs1052291383
|
|
NM_002578.5(PAK3):c.*452del
|
rs1057515732
|
|
NM_002578.5(PAK3):c.*83C>T
|
rs1057515731
|
|
NM_002578.5(PAK3):c.-470G>T
|
rs377633192
|
|
NM_002578.5(PAK3):c.492T>A (p.Pro164=)
|
rs1057515729
|
|
NM_002578.5(PAK3):c.601-3dup
|
rs768803846
|
|
NM_002764.4(PRPS1):c.*137C>T
|
rs1126445
|
|
NM_002764.4(PRPS1):c.*389G>A
|
rs5962870
|
|
NM_002764.4(PRPS1):c.*389G>C
|
rs5962870
|
|
NM_002764.4(PRPS1):c.*508G>C
|
rs1198892283
|
|
NM_002764.4(PRPS1):c.*538G>C
|
rs1057515727
|
|
NM_002764.4(PRPS1):c.*539G>C
|
rs370453137
|
|
NM_002764.4(PRPS1):c.*539G>T
|
rs370453137
|
|
NM_002764.4(PRPS1):c.*608C>T
|
rs1925809901
|
|
NM_002764.4(PRPS1):c.*938dup
|
rs1057515728
|
|
NM_003179.3(SYP):c.54G>C (p.Gln18His)
|
|
|
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser)
|
rs2073559814
|
|
NM_004606.5(TAF1):c.5036G>A (p.Ser1679Asn)
|
|
|
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr)
|
rs1602463196
|
|
NM_004727.3(SLC24A1):c.*1016G>A
|
rs1319803654
|
|
NM_004727.3(SLC24A1):c.*1099A>T
|
rs886051354
|
|
NM_004727.3(SLC24A1):c.*1346C>A
|
rs777291212
|
|
NM_004727.3(SLC24A1):c.*1883A>G
|
rs2075670262
|
|
NM_004727.3(SLC24A1):c.*1959A>G
|
rs1596361110
|
|
NM_004727.3(SLC24A1):c.*2146T>G
|
rs77255459
|
|
NM_004727.3(SLC24A1):c.*349C>T
|
rs184758393
|
|
NM_004727.3(SLC24A1):c.*858C>T
|
rs2075630737
|
|
NM_004727.3(SLC24A1):c.*986G>T
|
rs2075635357
|
|
NM_004727.3(SLC24A1):c.1271C>A (p.Pro424His)
|
rs919442711
|
|
NM_004727.3(SLC24A1):c.1886G>A (p.Ser629Asn)
|
rs2074500484
|
|
NM_004727.3(SLC24A1):c.1976C>A (p.Ser659Ter)
|
rs367858805
|
|
NM_004727.3(SLC24A1):c.2053+6C>T
|
rs886051350
|
|
NM_004727.3(SLC24A1):c.2106C>T (p.Ala702=)
|
rs2075238543
|
|
NM_004727.3(SLC24A1):c.222G>T (p.Met74Ile)
|
rs370527618
|
|
NM_004727.3(SLC24A1):c.2516G>T (p.Gly839Val)
|
rs2075464806
|
|
NM_004727.3(SLC24A1):c.2574T>G (p.Asp858Glu)
|
rs2075467314
|
|
NM_004727.3(SLC24A1):c.2661A>G (p.Glu887=)
|
rs886051352
|
|
NM_004727.3(SLC24A1):c.2838G>A (p.Met946Ile)
|
rs760348512
|
|
NM_004727.3(SLC24A1):c.2T>C (p.Met1Thr)
|
rs886051347
|
|
NM_004727.3(SLC24A1):c.3050+3G>C
|
rs758702980
|
|
NM_004727.3(SLC24A1):c.3072T>C (p.Leu1024=)
|
rs139757342
|
|
NM_004727.3(SLC24A1):c.425_428del (p.Glu142fs)
|
rs886051349
|
|
NM_004727.3(SLC24A1):c.639G>T (p.Ala213=)
|
rs781442429
|
|
NM_004840.2(ARHGEF6):c.-93_-92delAT
|
rs757215282
|
|
NM_004840.3(ARHGEF6):c.*109TC[6]
|
rs1057515778
|
|
NM_005120.3(MED12):c.397-12A>G
|
rs192515277
|
|
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val)
|
rs868948937
|
|
NM_007137.5(ZNF81):c.*176del
|
rs781900721
|
|
NM_007137.5(ZNF81):c.*2268del
|
rs1057515914
|
|
NM_007137.5(ZNF81):c.*3399T>A
|
rs1057515915
|
|
NM_014271.4(IL1RAPL1):c.-302dup
|
rs779869307
|
|
NM_014271.4(IL1RAPL1):c.-303_-302del
|
rs779869307
|
|
NM_014271.4(IL1RAPL1):c.-82C>A
|
rs1057515849
|
|
NM_014271.4(IL1RAPL1):c.1368T>A (p.Thr456=)
|
rs1057515851
|
|
NM_014271.4(IL1RAPL1):c.1690A>C (p.Ile564Leu)
|
rs1057515852
|
|
NM_014271.4(IL1RAPL1):c.206G>A (p.Ser69Asn)
|
rs747458852
|
|
NM_014271.4(IL1RAPL1):c.779G>A (p.Gly260Asp)
|
rs1932808020
|
|
NM_014271.4(IL1RAPL1):c.83-8dup
|
rs773751585
|
|
NM_014332.3(SMPX):c.*181A>G
|
rs2092772738
|
|
NM_014332.3(SMPX):c.*232T>G
|
rs1313352273
|
|
NM_014332.3(SMPX):c.*45A>T
|
rs1057515838
|
|
NM_014332.3(SMPX):c.-54G>A
|
rs1057515840
|
|
NM_014332.3(SMPX):c.264G>A (p.Gln88=)
|
rs1057515839
|
|
NM_017875.4(SLC25A38):c.-219T>C
|
rs886058469
|
|
NM_020661.4(AICDA):c.428-17_428-16dup
|
rs5796316
|
|
NM_022101.4(STEEP1):c.169C>G (p.Arg57Gly)
|
|
|
NM_031407.7(HUWE1):c.10721C>G (p.Ser3574Cys)
|
|
|
NM_031407.7(HUWE1):c.2195_2203del (p.Glu732_Glu734del)
|
|
|
NM_031407.7(HUWE1):c.401T>G (p.Val134Gly)
|
|
|
NM_031407.7(HUWE1):c.6211A>G (p.Ile2071Val)
|
|
|
NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu)
|
rs754849522
|
|
NM_080911.3(UNG):c.*500C>G
|
rs780337127
|
|
NM_080911.3(UNG):c.*866AT[5]
|
rs56185014
|
|
NM_139058.3(ARX):c.437C>T (p.Ala146Val)
|
rs1391577394
|
|
NM_144499.3(GNAT1):c.*1205C>T
|
rs886058688
|
|
NM_144499.3(GNAT1):c.*128T>A
|
rs886058686
|
|
NM_144499.3(GNAT1):c.*1789A>G
|
rs187475557
|
|
NM_144499.3(GNAT1):c.*2128C>A
|
rs879841527
|
|
NM_144499.3(GNAT1):c.*806G>A
|
rs574271694
|
|
NM_144499.3(GNAT1):c.*834T>A
|
rs760716503
|
|
NM_144499.3(GNAT1):c.149+8C>A
|
rs1699440055
|
|
NM_144499.3(GNAT1):c.830C>T (p.Ala277Val)
|
rs886058685
|
|
NM_145200.5(CABP4):c.*1285G>A
|
rs373857371
|
|
NM_145200.5(CABP4):c.*1758G>A
|
rs545370587
|
|
NM_145200.5(CABP4):c.*1933C>A
|
rs886048573
|
|
NM_145200.5(CABP4):c.*2061C>T
|
rs1382811119
|
|
NM_145200.5(CABP4):c.*2065T>G
|
rs886048575
|
|
NM_145200.5(CABP4):c.*2331A>G
|
rs886048581
|
|
NM_145200.5(CABP4):c.*2357A>G
|
rs1461232183
|
|
NM_145200.5(CABP4):c.*262C>G
|
rs886048562
|
|
NM_145200.5(CABP4):c.*2886T>A
|
rs1865015075
|
|
NM_145200.5(CABP4):c.*2896T>C
|
rs1865015731
|
|
NM_145200.5(CABP4):c.*2905G>A
|
rs1865015969
|
|
NM_145200.5(CABP4):c.*324C>A
|
rs886048563
|
|
NM_145200.5(CABP4):c.*408C>T
|
rs376738871
|
|
NM_145200.5(CABP4):c.*62A>T
|
rs899658098
|
|
NM_145200.5(CABP4):c.194A>G (p.Glu65Gly)
|
rs886048559
|
|
NM_145200.5(CABP4):c.246C>A (p.Gly82=)
|
rs147329388
|
|
NM_145200.5(CABP4):c.281G>A (p.Arg94His)
|
rs143040005
|
|
NM_145200.5(CABP4):c.315C>T (p.His105=)
|
rs756570102
|
|
NM_145200.5(CABP4):c.415G>A (p.Glu139Lys)
|
rs769103245
|
|
NM_145200.5(CABP4):c.524A>G (p.Gln175Arg)
|
rs886048560
|
|
NM_145200.5(CABP4):c.799+7C>T
|
rs370492431
|
|
NM_153252.5(BRWD3):c.*1703T>C
|
rs1057516003
|
|
NM_153252.5(BRWD3):c.*1895C>G
|
rs1057516002
|
|
NM_153252.5(BRWD3):c.*2329A>T
|
rs1057516001
|
|
NM_153252.5(BRWD3):c.*244CA[2]
|
rs1057516004
|
|
NM_153252.5(BRWD3):c.*2594T>C
|
rs1057516000
|
|
NM_153252.5(BRWD3):c.*2710G>A
|
rs898420202
|
|
NM_153252.5(BRWD3):c.*2875A>G
|
rs926354680
|
|
NM_153252.5(BRWD3):c.*3252T>C
|
rs2072338016
|
|
NM_153252.5(BRWD3):c.*3738A>G
|
rs2072334243
|
|
NM_153252.5(BRWD3):c.*4581C>T
|
rs1057515996
|
|
NM_153252.5(BRWD3):c.*5514T>C
|
rs1057515995
|
|
NM_153252.5(BRWD3):c.*6451T>C
|
rs1166674482
|
|
NM_153252.5(BRWD3):c.*6692A>G
|
rs2072310229
|
|
NM_153252.5(BRWD3):c.*6871G>T
|
rs567910666
|
|
NM_153252.5(BRWD3):c.*6957C>G
|
rs1057515992
|
|
NM_153252.5(BRWD3):c.*802A>G
|
rs2072359014
|
|
NM_153252.5(BRWD3):c.-229_-228dup
|
rs1057516006
|
|
NM_153252.5(BRWD3):c.-265TC[7]
|
rs1057516007
|
|
NM_153252.5(BRWD3):c.1384T>C (p.Ser462Pro)
|
rs202197853
|
|
NM_153252.5(BRWD3):c.2026G>A (p.Ala676Thr)
|
rs2073115463
|
|
NM_153252.5(BRWD3):c.3326-14del
|
rs765175433
|
|
NM_153252.5(BRWD3):c.3326-26dup
|
rs765175433
|
|
NM_153252.5(BRWD3):c.3730G>C (p.Asp1244His)
|
rs2147690102
|
|
NM_153252.5(BRWD3):c.4384A>G (p.Ser1462Gly)
|
|
|
NM_171998.4(RAB39B):c.*139_*142del
|
rs1057515834
|
|
NM_171998.4(RAB39B):c.*1621del
|
rs1057515830
|
|
NM_171998.4(RAB39B):c.*1728A>G
|
rs1057515829
|
|
NM_171998.4(RAB39B):c.*1949CAAA[1]
|
rs1057515828
|
|
NM_171998.4(RAB39B):c.*2551T>C
|
rs2074840717
|
|
NM_171998.4(RAB39B):c.*428C>T
|
rs2074848966
|
|
NM_171998.4(RAB39B):c.*659_*660insATA
|
rs1057515832
|
|
NM_171998.4(RAB39B):c.-62C>A
|
rs2074862600
|
|
NM_171998.4(RAB39B):c.273T>C (p.Ile91=)
|
rs1057515836
|
|
NM_181672.3(OGT):c.1709C>T (p.Thr570Ile)
|
|
|
NM_198506.5(LRIT3):c.*1070C>T
|
rs1734844540
|
|
NM_198506.5(LRIT3):c.*1155G>A
|
rs1214674799
|
|
NM_198506.5(LRIT3):c.*1182T>C
|
rs1579384911
|
|
NM_198506.5(LRIT3):c.*258G>A
|
rs1734822393
|
|
NM_198506.5(LRIT3):c.*959C>T
|
rs954666885
|
|
NM_198506.5(LRIT3):c.1109A>T (p.Gln370Leu)
|
rs778238467
|
|
NM_198506.5(LRIT3):c.1159T>G (p.Trp387Gly)
|
rs140494004
|
|
NM_198506.5(LRIT3):c.15_16insAT (p.Cys6fs)
|
rs1560588083
|
|
NM_198506.5(LRIT3):c.848C>T (p.Pro283Leu)
|
rs886058985
|
|
NM_198506.5(LRIT3):c.900A>G (p.Ile300Met)
|
rs996641458
|
|
NM_198506.5(LRIT3):c.99T>C (p.Asn33=)
|
rs1054476083
|
|