NM_000153.4(GALC):c.*801A>T
|
rs114174103
|
0.01526
|
NM_002778.3(PSAP):c.-65C>T
|
rs145948209
|
0.00785
|
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_022124.6(CDH23):c.9501G>A (p.Thr3167=)
|
rs144906721
|
0.00292
|
NM_002778.4(PSAP):c.1380C>T (p.Pro460=)
|
rs1049882
|
0.00284
|
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_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.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_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)
|
rs201727938
|
0.00016
|
NM_022124.6(CDH23):c.*80G>A
|
rs75715348
|
0.00011
|
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)
|
rs148475933
|
0.00009
|
NM_000153.4(GALC):c.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)
|
rs368441850
|
0.00006
|
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)
|
rs571773332
|
0.00004
|
NM_022124.6(CDH23):c.*439C>T
|
rs140312023
|
0.00001
|
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)
|
rs562590210
|
0.00001
|
NM_002778.3(PSAP):c.-33T>C
|
rs143987544
|
|
NM_022124.6(CDH23):c.*588del
|
rs148667421
|
|
NM_022124.6(CDH23):c.9739-12G>A
|
rs200638595
|
|