NM_000487.6(ARSA):c.*919A>G
|
rs5770805
|
0.78412
|
NM_022124.6(CDH23):c.*349A>G
|
rs1867978
|
0.77194
|
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)
|
rs743616
|
0.48362
|
NM_000487.6(ARSA):c.*682G>C
|
rs7288338
|
0.41670
|
NM_000487.6(ARSA):c.*855G>A
|
rs7288050
|
0.41126
|
NM_002778.4(PSAP):c.1351-14A>G
|
rs4747203
|
0.34512
|
NM_000487.6(ARSA):c.*635G>A
|
rs5770953
|
0.29302
|
NM_000487.6(ARSA):c.*1522C>A
|
rs6009939
|
0.26325
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
NM_002778.4(PSAP):c.1350+5G>A
|
rs11000016
|
0.16762
|
NM_022124.6(CDH23):c.*204A>G
|
rs2290022
|
0.13799
|
NM_000487.6(ARSA):c.*741C>T
|
rs8142033
|
0.13503
|
NM_000487.6(ARSA):c.*340T>A
|
rs5741862
|
0.11788
|
NM_022124.6(CDH23):c.9319+11G>A
|
rs11000013
|
0.10868
|
NM_000487.6(ARSA):c.-345G>C
|
rs6151406
|
0.09453
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.08719
|
NM_022124.6(CDH23):c.*510G>A
|
rs1054635
|
0.07812
|
NM_000487.6(ARSA):c.*1570C>T
|
rs79823940
|
0.07507
|
NM_000487.6(ARSA):c.*1369C>T
|
rs76841085
|
0.07487
|
NM_000487.6(ARSA):c.459C>T (p.His153=)
|
rs6151412
|
0.05937
|
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)
|
rs6151415
|
0.05295
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)
|
rs6151428
|
0.04709
|
NM_000487.6(ARSA):c.*1746G>A
|
rs73172277
|
0.04494
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
NM_000487.6(ARSA):c.1149C>T (p.Asp383=)
|
rs6151425
|
0.04013
|
NM_000487.6(ARSA):c.*1076A>T
|
rs114833506
|
0.02807
|
NM_000487.6(ARSA):c.*1769A>G
|
rs56788262
|
0.02807
|
NM_000487.6(ARSA):c.-136C>G
|
rs6151408
|
0.02754
|
NM_000487.6(ARSA):c.*2374C>A
|
rs11704557
|
0.02731
|
NM_000487.6(ARSA):c.*503A>G
|
rs141494339
|
0.02726
|
NM_000487.6(ARSA):c.243C>T (p.Gly81=)
|
rs6151410
|
0.02425
|
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)
|
rs73277900
|
0.02056
|
NM_000487.6(ARSA):c.624T>C (p.His208=)
|
rs113990230
|
0.01000
|
NM_002778.3(PSAP):c.-65C>T
|
rs145948209
|
0.00785
|
NM_000487.6(ARSA):c.*992G>A
|
rs376910590
|
0.00717
|
NM_000487.6(ARSA):c.-330C>T
|
rs558023516
|
0.00504
|
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)
|
rs140463385
|
0.00447
|
NM_022124.6(CDH23):c.*361C>A
|
rs115033851
|
0.00420
|
NM_022124.6(CDH23):c.*515C>A
|
rs16929375
|
0.00385
|
NM_022124.6(CDH23):c.9510+13C>T
|
rs183692794
|
0.00379
|
NM_000487.6(ARSA):c.1002C>T (p.Ser334=)
|
rs147027229
|
0.00358
|
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)
|
rs55717455
|
0.00341
|
NM_001042465.2(PSAP):c.-118G>A
|
rs28365838
|
0.00331
|
NM_000487.6(ARSA):c.466-7G>C
|
rs6151414
|
0.00294
|
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)
|
rs144906721
|
0.00292
|
NM_000487.6(ARSA):c.*2259G>A
|
rs187444411
|
0.00289
|
NM_000487.6(ARSA):c.*191C>G
|
rs537362532
|
0.00283
|
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)
|
rs201251634
|
0.00261
|
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)
|
rs148352371
|
0.00245
|
NM_000487.6(ARSA):c.-224C>G
|
rs546035074
|
0.00197
|
NM_002778.4(PSAP):c.1056C>T (p.Ser352=)
|
rs138328594
|
0.00185
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
NM_022124.6(CDH23):c.*68G>C
|
rs527311705
|
0.00182
|
NM_022124.6(CDH23):c.*478G>C
|
rs564392413
|
0.00166
|
NM_000487.6(ARSA):c.*332C>T
|
rs780413907
|
0.00115
|
NM_000487.6(ARSA):c.*729C>T
|
rs191335867
|
0.00099
|
NM_000487.6(ARSA):c.*1213T>G
|
rs886057649
|
0.00074
|
NM_000487.6(ARSA):c.-131G>A
|
rs551316995
|
0.00061
|
NM_000487.6(ARSA):c.*103C>T
|
rs146160737
|
0.00060
|
NM_000487.6(ARSA):c.*1969C>A
|
rs556167510
|
0.00055
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660
|
0.00053
|
NM_000487.6(ARSA):c.-159C>T
|
rs6151407
|
0.00051
|
NM_000487.6(ARSA):c.*1212T>G
|
rs868201030
|
0.00047
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000487.6(ARSA):c.*2316C>T
|
rs117951552
|
0.00039
|
NM_000487.6(ARSA):c.*2037C>T
|
rs568146327
|
0.00034
|
NM_000487.6(ARSA):c.*15G>A
|
rs377187248
|
0.00031
|
NM_022124.6(CDH23):c.*141G>A
|
rs535544696
|
0.00031
|
NM_000487.6(ARSA):c.-142G>A
|
rs886057660
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_022124.6(CDH23):c.*104G>C
|
rs377312107
|
0.00029
|
NM_000487.6(ARSA):c.*2301T>C
|
rs534387866
|
0.00026
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
NM_000487.6(ARSA):c.*1207T>G
|
rs985590155
|
0.00024
|
NM_000487.6(ARSA):c.*342A>G
|
rs182635438
|
0.00023
|
NM_000487.6(ARSA):c.*2368A>T
|
rs570115432
|
0.00022
|
NM_000487.6(ARSA):c.982G>A (p.Val328Met)
|
rs143994992
|
0.00022
|
NM_000487.6(ARSA):c.*527A>G
|
rs898694289
|
0.00021
|
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)
|
rs201727938
|
0.00016
|
NM_000487.6(ARSA):c.1258A>C (p.Ser420Arg)
|
rs139073195
|
0.00013
|
NM_000487.6(ARSA):c.*625G>A
|
rs778826401
|
0.00012
|
NM_000487.6(ARSA):c.*1171A>G
|
rs918518184
|
0.00011
|
NM_000487.6(ARSA):c.-88G>A
|
rs562486733
|
0.00011
|
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln)
|
rs551548107
|
0.00011
|
NM_022124.6(CDH23):c.*80G>A
|
rs75715348
|
0.00011
|
NM_000487.6(ARSA):c.*794C>T
|
rs886057652
|
0.00010
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
NM_000487.6(ARSA):c.*1987G>A
|
rs886057643
|
0.00009
|
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)
|
rs148475933
|
0.00009
|
NM_000487.6(ARSA):c.728G>A (p.Arg243His)
|
rs142142638
|
0.00008
|
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val)
|
rs540762357
|
0.00007
|
NM_000487.6(ARSA):c.225-5C>T
|
rs192013394
|
0.00006
|
NM_000487.6(ARSA):c.918G>A (p.Thr306=)
|
rs370250328
|
0.00006
|
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)
|
rs368441850
|
0.00006
|
NM_000487.6(ARSA):c.*380G>A
|
rs1249327412
|
0.00004
|
NM_000487.6(ARSA):c.-223G>T
|
rs752129372
|
0.00004
|
NM_002778.3(PSAP):c.-50G>T
|
rs886047154
|
0.00004
|
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)
|
rs571773332
|
0.00004
|
NM_000487.6(ARSA):c.*293C>T
|
rs886057654
|
0.00003
|
NM_000487.6(ARSA):c.*479C>G
|
rs565093599
|
0.00003
|
NM_000487.6(ARSA):c.-355G>T
|
rs886057661
|
0.00003
|
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser)
|
rs377717242
|
0.00003
|
NM_000487.6(ARSA):c.225-4G>A
|
rs372937480
|
0.00003
|
NM_000487.6(ARSA):c.369C>T (p.Ala123=)
|
rs886057657
|
0.00003
|
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu)
|
rs74315464
|
0.00003
|
NM_000487.6(ARSA):c.*1714G>A
|
rs183937648
|
0.00002
|
NM_000487.6(ARSA):c.*466C>T
|
rs1181265537
|
0.00002
|
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)
|
rs6151411
|
0.00002
|
NM_000487.6(ARSA):c.*10G>A
|
rs772710219
|
0.00001
|
NM_000487.6(ARSA):c.*1476G>A
|
rs8142531
|
0.00001
|
NM_000487.6(ARSA):c.*1629A>C
|
rs886057644
|
0.00001
|
NM_000487.6(ARSA):c.*1712C>T
|
rs1330240384
|
0.00001
|
NM_000487.6(ARSA):c.1211-15T>C
|
rs374150980
|
0.00001
|
NM_000487.6(ARSA):c.25C>T (p.Leu9Phe)
|
rs886057658
|
0.00001
|
NM_000487.6(ARSA):c.663C>T (p.Phe221=)
|
rs754484249
|
0.00001
|
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)
|
rs199476349
|
0.00001
|
NM_022124.6(CDH23):c.*439C>T
|
rs140312023
|
0.00001
|
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)
|
rs562590210
|
0.00001
|
NM_000487.6(ARSA):c.*1012C>T
|
rs886057650
|
|
NM_000487.6(ARSA):c.*1049T>A
|
rs868511268
|
|
NM_000487.6(ARSA):c.*1062dup
|
rs763817529
|
|
NM_000487.6(ARSA):c.*1073G>T
|
rs185955658
|
|
NM_000487.6(ARSA):c.*1157G>T
|
rs775298785
|
|
NM_000487.6(ARSA):c.*1206G>T
|
rs867069706
|
|
NM_000487.6(ARSA):c.*1238T>G
|
rs6010033
|
|
NM_000487.6(ARSA):c.*125C>G
|
rs886057656
|
|
NM_000487.6(ARSA):c.*1267C>T
|
rs886057648
|
|
NM_000487.6(ARSA):c.*127A>T
|
rs977218325
|
|
NM_000487.6(ARSA):c.*130C>A
|
rs886057655
|
|
NM_000487.6(ARSA):c.*1351C>G
|
rs131717
|
|
NM_000487.6(ARSA):c.*1372G>A
|
rs190478606
|
|
NM_000487.6(ARSA):c.*1372G>T
|
rs190478606
|
|
NM_000487.6(ARSA):c.*1404dup
|
rs746677403
|
|
NM_000487.6(ARSA):c.*1475C>G
|
rs184515588
|
|
NM_000487.6(ARSA):c.*1477C>T
|
rs2082619608
|
|
NM_000487.6(ARSA):c.*1576A>C
|
rs886057647
|
|
NM_000487.6(ARSA):c.*1617G>A
|
rs886057646
|
|
NM_000487.6(ARSA):c.*1627G>C
|
rs886057645
|
|
NM_000487.6(ARSA):c.*165G>A
|
rs144366706
|
|
NM_000487.6(ARSA):c.*1825C>T
|
rs2082615571
|
|
NM_000487.6(ARSA):c.*2023G>C
|
rs886057642
|
|
NM_000487.6(ARSA):c.*2065C>T
|
rs776085194
|
|
NM_000487.6(ARSA):c.*2088CCT[1]
|
rs886057641
|
|
NM_000487.6(ARSA):c.*2134C>A
|
rs911625206
|
|
NM_000487.6(ARSA):c.*2205A>T
|
rs886057640
|
|
NM_000487.6(ARSA):c.*2283A>G
|
rs2082610056
|
|
NM_000487.6(ARSA):c.*389A>G
|
rs547501508
|
|
NM_000487.6(ARSA):c.*413T>G
|
rs986551305
|
|
NM_000487.6(ARSA):c.*624G>T
|
rs2082632282
|
|
NM_000487.6(ARSA):c.*643T>C
|
rs886057653
|
|
NM_000487.6(ARSA):c.*777C>G
|
rs115593886
|
|
NM_000487.6(ARSA):c.*874T>C
|
rs886057651
|
|
NM_000487.6(ARSA):c.-20G>C
|
rs886057659
|
|
NM_000487.6(ARSA):c.-343C>T
|
rs1028447908
|
|
NM_000487.6(ARSA):c.-362G>C
|
rs886057662
|
|
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)
|
rs74315476
|
|
NM_000487.6(ARSA):c.1210+13C>T
|
rs6151426
|
|
NM_000487.6(ARSA):c.1434G>C (p.Gln478His)
|
rs769169905
|
|
NM_000487.6(ARSA):c.151C>G (p.Leu51Val)
|
rs1348625953
|
|
NM_000487.6(ARSA):c.296G>A (p.Arg99Gln)
|
rs759295985
|
|
NM_000487.6(ARSA):c.495G>A (p.Pro165=)
|
rs145299072
|
|
NM_000487.6(ARSA):c.778G>T (p.Val260Leu)
|
rs2082674602
|
|
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)
|
rs199476387
|
|
NM_002778.3(PSAP):c.-33T>C
|
rs143987544
|
|
NM_002778.3(PSAP):c.-56A>G
|
rs534586960
|
|
NM_002778.3(PSAP):c.-62A>G
|
rs886047155
|
|
NM_002778.3(PSAP):c.-99T>G
|
rs886047156
|
|
NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn)
|
rs760621775
|
|
NM_022124.6(CDH23):c.*588del
|
rs148667421
|
|
NM_022124.6(CDH23):c.9510+19_9510+25del
|
rs149704197
|
|
NM_022124.6(CDH23):c.9739-12G>A
|
rs200638595
|
|