NM_000153.4(GALC):c.1698A>T (p.Val566=)
|
rs421466
|
0.95773
|
NM_000153.4(GALC):c.1834+5C>G
|
rs448805
|
0.95475
|
NM_000153.4(GALC):c.*989G>A
|
rs370559
|
0.95463
|
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)
|
rs421262
|
0.95462
|
NM_000153.4(GALC):c.*627A>G
|
rs413750
|
0.95456
|
NM_022124.6(CDH23):c.*349A>G
|
rs1867978
|
0.77194
|
NM_000153.4(GALC):c.*723G>A
|
rs412915
|
0.49978
|
NM_000153.4(GALC):c.*626C>T
|
rs432946
|
0.49976
|
NM_000153.4(GALC):c.*1453A>G
|
rs405567
|
0.49973
|
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)
|
rs398607
|
0.49946
|
NM_000153.4(GALC):c.*590T>C
|
rs1042029
|
0.45472
|
NM_000153.4(GALC):c.*1186_*1188del
|
rs141199615
|
0.45391
|
NM_000153.4(GALC):c.*1275G>A
|
rs1042042
|
0.45032
|
NM_000153.4(GALC):c.1671-15C>T
|
rs12432149
|
0.45011
|
NM_000153.4(GALC):c.*1588T>G
|
rs17198
|
0.44979
|
NM_000153.4(GALC):c.1350C>T (p.Ser450=)
|
rs398076
|
0.39907
|
NM_002778.4(PSAP):c.1351-14A>G
|
rs4747203
|
0.34512
|
NM_002778.4(PSAP):c.*891G>A
|
rs7869
|
0.34207
|
NM_000153.4(GALC):c.984G>A (p.Gln328=)
|
rs12888666
|
0.29819
|
NM_002778.4(PSAP):c.1350+5G>A
|
rs11000016
|
0.16762
|
NM_022124.6(CDH23):c.*204A>G
|
rs2290022
|
0.13799
|
NM_002778.4(PSAP):c.-4C>T
|
rs2070188
|
0.12811
|
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)
|
rs34362748
|
0.11424
|
NM_000153.4(GALC):c.42G>C (p.Ala14=)
|
rs112992946
|
0.11300
|
NM_000153.4(GALC):c.61G>C (p.Ala21Pro)
|
rs111887056
|
0.11296
|
NM_000153.4(GALC):c.75C>A (p.Gly25=)
|
rs111976362
|
0.11287
|
NM_000153.4(GALC):c.*1126G>A
|
rs1042035
|
0.11091
|
NM_022124.6(CDH23):c.9319+11G>A
|
rs11000013
|
0.10868
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.08719
|
NM_022124.6(CDH23):c.*510G>A
|
rs1054635
|
0.07812
|
NM_000153.4(GALC):c.*709A>C
|
rs45572135
|
0.05219
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
NM_000153.4(GALC):c.550C>T (p.Arg184Cys)
|
rs1805078
|
0.03877
|
NM_000153.4(GALC):c.330C>T (p.Asp110=)
|
rs11552556
|
0.03162
|
NM_000153.4(GALC):c.397T>C (p.Leu133=)
|
rs56194647
|
0.02565
|
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)
|
rs73277900
|
0.02056
|
NM_000153.4(GALC):c.1072C>T (p.Leu358=)
|
rs74073730
|
0.01792
|
NM_000153.4(GALC):c.*801A>T
|
rs114174103
|
0.01526
|
NM_002778.4(PSAP):c.*775G>A
|
rs79662404
|
0.01440
|
NM_002778.4(PSAP):c.-10A>G
|
rs76455588
|
0.01197
|
NM_002778.4(PSAP):c.78C>T (p.Thr26=)
|
rs74145688
|
0.00850
|
NM_002778.3(PSAP):c.-65C>T
|
rs145948209
|
0.00785
|
NM_002778.4(PSAP):c.1452G>A (p.Ser484=)
|
rs114389264
|
0.00778
|
NM_000153.4(GALC):c.*395C>T
|
rs3850376
|
0.00770
|
NM_000153.4(GALC):c.1302C>T (p.Ser434=)
|
rs3213918
|
0.00674
|
NM_000153.4(GALC):c.1788C>T (p.Phe596=)
|
rs115018138
|
0.00658
|
NM_000153.4(GALC):c.195+10A>G
|
rs191767015
|
0.00653
|
NM_002778.4(PSAP):c.*122C>G
|
rs113284884
|
0.00572
|
NM_002778.4(PSAP):c.204C>T (p.Asp68=)
|
rs143981174
|
0.00484
|
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_000153.4(GALC):c.1006G>A (p.Val336Met)
|
rs185073540
|
0.00368
|
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)
|
rs55717455
|
0.00341
|
NM_001042465.2(PSAP):c.-118G>A
|
rs28365838
|
0.00331
|
NM_000153.4(GALC):c.96G>T (p.Leu32=)
|
rs113719127
|
0.00324
|
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)
|
rs144906721
|
0.00292
|
NM_002778.4(PSAP):c.1380C>T (p.Pro460=)
|
rs1049882
|
0.00284
|
NM_000153.4(GALC):c.913A>G (p.Ile305Val)
|
rs74887188
|
0.00270
|
NM_002778.4(PSAP):c.189C>T (p.Cys63=)
|
rs111369573
|
0.00266
|
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)
|
rs190921137
|
0.00248
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
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_022124.6(CDH23):c.*434G>A
|
rs529522213
|
0.00133
|
NM_022124.6(CDH23):c.*430A>T
|
rs562268606
|
0.00131
|
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)
|
rs199967869
|
0.00107
|
NM_002778.4(PSAP):c.174+9C>T
|
rs141133813
|
0.00090
|
NM_002778.4(PSAP):c.714C>G (p.Ala238=)
|
rs141199649
|
0.00076
|
NM_000153.4(GALC):c.-67T>G
|
rs571945132
|
0.00070
|
NM_002778.4(PSAP):c.41-13G>C
|
rs138010978
|
0.00055
|
NM_000153.4(GALC):c.*1451C>A
|
rs138919458
|
0.00054
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660
|
0.00053
|
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)
|
rs144942998
|
0.00051
|
NM_002778.4(PSAP):c.-29C>T
|
rs201780377
|
0.00035
|
NM_022124.6(CDH23):c.*141G>A
|
rs535544696
|
0.00031
|
NM_022124.6(CDH23):c.*104G>C
|
rs377312107
|
0.00029
|
NM_002778.4(PSAP):c.-28A>C
|
rs375720661
|
0.00028
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly)
|
rs200008050
|
0.00022
|
NM_000153.4(GALC):c.1272G>A (p.Gln424=)
|
rs376675180
|
0.00019
|
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)
|
rs146286491
|
0.00019
|
NM_002778.4(PSAP):c.1476T>C (p.Thr492=)
|
rs139178900
|
0.00019
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_000153.4(GALC):c.708C>T (p.Ser236=)
|
rs773666802
|
0.00017
|
NM_002778.4(PSAP):c.*376A>G
|
rs141906397
|
0.00016
|
NM_002778.4(PSAP):c.*737G>A
|
rs147046509
|
0.00016
|
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)
|
rs201727938
|
0.00016
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)
|
rs140066253
|
0.00013
|
NM_002778.4(PSAP):c.557G>A (p.Arg186His)
|
rs138880818
|
0.00013
|
NM_000153.4(GALC):c.328+6A>G
|
rs201977747
|
0.00011
|
NM_000153.4(GALC):c.82G>A (p.Ala28Thr)
|
rs776663863
|
0.00011
|
NM_022124.6(CDH23):c.*80G>A
|
rs75715348
|
0.00011
|
NM_002778.4(PSAP):c.*574G>C
|
rs549402343
|
0.00010
|
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)
|
rs202125074
|
0.00010
|
NM_002778.4(PSAP):c.577-10T>C
|
rs185892516
|
0.00009
|
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)
|
rs148475933
|
0.00009
|
NM_000153.4(GALC):c.*405A>G
|
rs143839879
|
0.00008
|
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)
|
rs749660716
|
0.00008
|
NM_000153.4(GALC):c.*1458T>C
|
rs757918900
|
0.00006
|
NM_000153.4(GALC):c.120C>T (p.Gly40=)
|
rs532800656
|
0.00006
|
NM_000153.4(GALC):c.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
NM_000153.4(GALC):c.18C>G (p.Leu6=)
|
rs886038260
|
0.00006
|
NM_000153.4(GALC):c.53C>T (p.Thr18Ile)
|
rs755139799
|
0.00006
|
NM_002778.4(PSAP):c.*1008C>T
|
rs537171961
|
0.00006
|
NM_002778.4(PSAP):c.*276G>A
|
rs547409137
|
0.00006
|
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)
|
rs749663645
|
0.00006
|
NM_002778.4(PSAP):c.227T>A (p.Met76Lys)
|
rs377024801
|
0.00006
|
NM_002778.4(PSAP):c.249+6C>T
|
rs774663731
|
0.00006
|
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)
|
rs368441850
|
0.00006
|
NM_000153.4(GALC):c.195+15G>A
|
rs748140458
|
0.00005
|
NM_002778.4(PSAP):c.*596A>G
|
rs965039324
|
0.00005
|
NM_002778.4(PSAP):c.-22G>C
|
rs569841336
|
0.00005
|
NM_000153.4(GALC):c.1619C>T (p.Thr540Ile)
|
rs557464603
|
0.00004
|
NM_000153.4(GALC):c.28T>C (p.Trp10Arg)
|
rs767913083
|
0.00004
|
NM_002778.3(PSAP):c.-50G>T
|
rs886047154
|
0.00004
|
NM_002778.4(PSAP):c.*346C>T
|
rs951110904
|
0.00004
|
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)
|
rs571773332
|
0.00004
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000153.4(GALC):c.434C>T (p.Thr145Ile)
|
rs781281519
|
0.00003
|
NM_002778.4(PSAP):c.*787C>T
|
rs932052243
|
0.00003
|
NM_002778.4(PSAP):c.*9A>G
|
rs376628499
|
0.00003
|
NM_002778.4(PSAP):c.336C>T (p.Ser112=)
|
rs370977178
|
0.00003
|
NM_002778.4(PSAP):c.380G>A (p.Arg127His)
|
rs886047151
|
0.00003
|
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)
|
rs188854022
|
0.00003
|
NM_002778.4(PSAP):c.798G>A (p.Ala266=)
|
rs199672678
|
0.00003
|
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu)
|
rs886047150
|
0.00003
|
NM_000153.4(GALC):c.1671-1G>A
|
rs1182103005
|
0.00002
|
NM_000153.4(GALC):c.318G>A (p.Gly106=)
|
rs886050867
|
0.00002
|
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)
|
rs535525554
|
0.00002
|
NM_002778.4(PSAP):c.1197C>T (p.His399=)
|
rs748761213
|
0.00002
|
NM_002778.4(PSAP):c.40+12G>A
|
rs886047153
|
0.00002
|
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe)
|
rs1428436713
|
0.00002
|
NM_000153.3(GALC):c.-21C>T
|
rs768255795
|
0.00001
|
NM_000153.4(GALC):c.-17G>A
|
rs886050868
|
0.00001
|
NM_000153.4(GALC):c.1418G>A (p.Arg473His)
|
rs374868151
|
0.00001
|
NM_000153.4(GALC):c.1443A>G (p.Pro481=)
|
rs1359281521
|
0.00001
|
NM_000153.4(GALC):c.2001A>C (p.Gly667=)
|
rs769902280
|
0.00001
|
NM_000153.4(GALC):c.40G>A (p.Ala14Thr)
|
rs1180517690
|
0.00001
|
NM_000153.4(GALC):c.443-12T>G
|
rs886038261
|
0.00001
|
NM_000153.4(GALC):c.450A>T (p.Pro150=)
|
rs886050866
|
0.00001
|
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)
|
rs886039569
|
0.00001
|
NM_000153.4(GALC):c.81C>T (p.Ala27=)
|
rs759433028
|
0.00001
|
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
NM_002778.4(PSAP):c.*238G>C
|
rs1174797357
|
0.00001
|
NM_002778.4(PSAP):c.*90C>T
|
rs1348415797
|
0.00001
|
NM_002778.4(PSAP):c.*935A>G
|
rs886047148
|
0.00001
|
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)
|
rs573095617
|
0.00001
|
NM_002778.4(PSAP):c.1432-4A>G
|
rs775086571
|
0.00001
|
NM_002778.4(PSAP):c.250-12G>A
|
rs886047152
|
0.00001
|
NM_002778.4(PSAP):c.423C>T (p.Leu141=)
|
rs780891597
|
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_000153.3(GALC):c.-31delC
|
rs886050869
|
|
NM_000153.3(GALC):c.-73G>A
|
rs1887315658
|
|
NM_000153.3(GALC):c.-85T>A
|
rs886050870
|
|
NM_000153.4(GALC):c.*1584G>A
|
rs893698376
|
|
NM_000153.4(GALC):c.*1598G>A
|
rs574189020
|
|
NM_000153.4(GALC):c.*1625A>G
|
rs188934153
|
|
NM_000153.4(GALC):c.*363A>G
|
rs539617222
|
|
NM_000153.4(GALC):c.*366A>G
|
rs1884480659
|
|
NM_000153.4(GALC):c.*375A>G
|
rs1884480331
|
|
NM_000153.4(GALC):c.*389G>T
|
rs1884479809
|
|
NM_000153.4(GALC):c.*455A>G
|
rs1884476134
|
|
NM_000153.4(GALC):c.*486C>G
|
rs1280004708
|
|
NM_000153.4(GALC):c.*499T>C
|
rs1226531123
|
|
NM_000153.4(GALC):c.*591G>A
|
rs886050863
|
|
NM_000153.4(GALC):c.*877T>A
|
rs185181747
|
|
NM_000153.4(GALC):c.*994C>A
|
rs1884455084
|
|
NM_000153.4(GALC):c.*999T>C
|
rs1267707327
|
|
NM_000153.4(GALC):c.-68C>T
|
rs369469562
|
|
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)
|
rs759286485
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.1162-4dup
|
rs11300320
|
|
NM_000153.4(GALC):c.136G>C (p.Asp46His)
|
rs751975987
|
|
NM_000153.4(GALC):c.1376A>G (p.His459Arg)
|
rs755193670
|
|
NM_000153.4(GALC):c.1642A>G (p.Thr548Ala)
|
rs886050864
|
|
NM_000153.4(GALC):c.2053C>A (p.Arg685Ser)
|
rs756141815
|
|
NM_000153.4(GALC):c.313G>A (p.Asp105Asn)
|
rs1361755363
|
|
NM_000153.4(GALC):c.329-10_329-8del
|
rs770389075
|
|
NM_000153.4(GALC):c.3G>T (p.Met1Ile)
|
rs758685128
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000153.4(GALC):c.442+4A>G
|
rs753169234
|
|
NM_000153.4(GALC):c.454T>C (p.Ser152Pro)
|
|
|
NM_000153.4(GALC):c.583-11T>C
|
rs886050865
|
|
NM_000153.4(GALC):c.64G>C (p.Gly22Arg)
|
rs768031195
|
|
NM_000153.4(GALC):c.752+8A>C
|
rs750292340
|
|
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.*113C>T
|
rs544214520
|
|
NM_002778.4(PSAP):c.*526G>A
|
rs1842177081
|
|
NM_002778.4(PSAP):c.*73C>T
|
rs541692197
|
|
NM_002778.4(PSAP):c.*859C>T
|
rs886047149
|
|
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val)
|
rs544300820
|
|
NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn)
|
rs760621775
|
|
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys)
|
rs529719024
|
|
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)
|
rs777227555
|
|
NM_002778.4(PSAP):c.1329G>T (p.Leu443=)
|
rs1842249121
|
|
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala)
|
rs761637109
|
|
NM_002778.4(PSAP):c.570G>T (p.Gln190His)
|
rs142272618
|
|
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg)
|
rs757553906
|
|
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
|
|