NM_004937.3(CTNS):c.*738T>G
|
rs224562
|
0.99537
|
NM_004937.3(CTNS):c.329+22C>G
|
rs459613
|
0.88549
|
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile)
|
rs161400
|
0.84806
|
NM_004937.3(CTNS):c.*2383dup
|
rs397702352
|
0.82623
|
NM_004937.3(CTNS):c.*2306T>C
|
rs161397
|
0.71652
|
NM_004937.3(CTNS):c.*1440A>G
|
rs161398
|
0.67203
|
NM_004937.3(CTNS):c.852+242C>G
|
rs466867
|
0.58947
|
NM_004937.3(CTNS):c.461+52G>A
|
rs467277
|
0.51389
|
NM_004937.3(CTNS):c.-19-211A>G
|
rs456253
|
0.43126
|
NM_004937.3(CTNS):c.461+49A>G
|
rs457419
|
0.35954
|
NM_004937.3(CTNS):c.141-103G>A
|
rs222778
|
0.35912
|
NM_004937.3(CTNS):c.970+70C>T
|
rs222753
|
0.34692
|
NM_004937.3(CTNS):c.*737T>A
|
rs222754
|
0.24184
|
NM_004937.3(CTNS):c.*405G>A
|
rs760273
|
0.21386
|
NM_004937.3(CTNS):c.*555T>C
|
rs1048646
|
0.19518
|
NM_004937.3(CTNS):c.*572A>G
|
rs3826493
|
0.19518
|
NM_004937.3(CTNS):c.*627T>C
|
rs1048647
|
0.19492
|
NM_004937.3(CTNS):c.*631T>C
|
rs1048648
|
0.19488
|
NM_004937.3(CTNS):c.*300C>G
|
rs2873624
|
0.19455
|
NM_004937.3(CTNS):c.*715C>T
|
rs1048649
|
0.19427
|
NM_004937.3(CTNS):c.*421T>C
|
rs760274
|
0.19404
|
NM_004937.3(CTNS):c.*410A>G
|
rs3826496
|
0.19387
|
NM_004937.3(CTNS):c.*1025A>G
|
rs1048674
|
0.19022
|
NM_004937.3(CTNS):c.*1024C>T
|
rs1048673
|
0.19015
|
NM_004937.3(CTNS):c.*1116C>T
|
rs1048682
|
0.18891
|
NM_004937.3(CTNS):c.*1152A>G
|
rs2235104
|
0.18705
|
NM_004937.3(CTNS):c.681+274G>A
|
rs4790532
|
0.15427
|
NM_004937.3(CTNS):c.461+54G>A
|
rs12938401
|
0.15247
|
NM_004937.3(CTNS):c.504G>A (p.Thr168=)
|
rs1800528
|
0.14800
|
NM_004937.3(CTNS):c.852+281T>C
|
rs12325801
|
0.14096
|
NM_004937.3(CTNS):c.970+45C>T
|
rs11868420
|
0.10969
|
NM_004937.3(CTNS):c.*527G>A
|
rs79668190
|
0.06278
|
NM_004937.3(CTNS):c.461+317C>A
|
rs9907296
|
0.06024
|
NM_004937.3(CTNS):c.-634C>T
|
rs138913261
|
0.05988
|
NC_000017.11:g.3636333A>T
|
rs111541274
|
0.05900
|
NM_004937.3(CTNS):c.462T>C (p.Ser154=)
|
rs77453839
|
0.05257
|
NM_004937.3(CTNS):c.62-224C>T
|
rs80308477
|
0.04921
|
NM_004937.3(CTNS):c.*1665A>G
|
rs112317698
|
0.04756
|
NM_004937.3(CTNS):c.852+228G>A
|
rs9900963
|
0.04194
|
NM_004937.3(CTNS):c.*1866C>T
|
rs111430685
|
0.03936
|
NM_004937.3(CTNS):c.*1633C>G
|
rs112032534
|
0.03822
|
NM_004937.3(CTNS):c.*1595C>T
|
rs112299490
|
0.03812
|
NM_004937.3(CTNS):c.*2115G>A
|
rs77196744
|
0.03574
|
NM_004937.3(CTNS):c.970+15G>A
|
rs76153698
|
0.03340
|
NM_004937.3(CTNS):c.-230+11A>G
|
rs116000219
|
0.03310
|
NM_004937.3(CTNS):c.*1578C>G
|
rs142813435
|
0.02513
|
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
NM_004937.3(CTNS):c.*851G>A
|
rs75192283
|
0.01649
|
NM_004937.3(CTNS):c.-635G>C
|
rs112140949
|
0.01378
|
NM_004937.3(CTNS):c.*2127G>A
|
rs72835828
|
0.01197
|
NM_004937.3(CTNS):c.108C>T (p.Asn36=)
|
rs117404824
|
0.00664
|
NM_004937.3(CTNS):c.*1206T>C
|
rs115239409
|
0.00577
|
NM_004937.3(CTNS):c.853-28C>T
|
rs78671385
|
0.00563
|
NM_004937.3(CTNS):c.*1165C>T
|
rs112915401
|
0.00534
|
NM_004937.3(CTNS):c.*1117G>A
|
rs78833685
|
0.00271
|
NM_004937.3(CTNS):c.462-7C>A
|
rs189632527
|
0.00259
|
NM_004937.3(CTNS):c.327C>T (p.Thr109=)
|
rs150554216
|
0.00141
|
NM_004937.3(CTNS):c.834G>A (p.Leu278=)
|
rs139519275
|
0.00094
|
NM_004937.3(CTNS):c.516C>T (p.Ala172=)
|
rs143405190
|
0.00068
|
NM_004937.3(CTNS):c.534C>T (p.Ile178=)
|
rs113967200
|
0.00058
|
NM_004937.3(CTNS):c.356G>A (p.Arg119His)
|
rs375970075
|
0.00008
|
NM_004937.3(CTNS):c.461+16G>A
|
rs201772152
|
0.00008
|
NM_004937.3(CTNS):c.285A>T (p.Gly95=)
|
rs373998956
|
0.00005
|
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)
|
rs187396540
|
0.00005
|
NM_004937.3(CTNS):c.822C>T (p.Leu274=)
|
rs150773117
|
0.00001
|
GRCh38/hg38 17p13.2(chr17:3640170-3656795)x1
|
|
|
NC_000017.11:g.3636287G>T
|
rs77838064
|
|
NM_004937.3(CTNS):c.*1128G>A
|
rs115643745
|
|
NM_004937.3(CTNS):c.*1957del
|
rs397856854
|
|
NM_004937.3(CTNS):c.225+147G>C
|
rs161351
|
|
NM_004937.3(CTNS):c.226-301dup
|
rs560988939
|
|
NM_004937.3(CTNS):c.681+22del
|
|
|
NM_004937.3(CTNS):c.682-3del
|
|
|
NM_004937.3(CTNS):c.682-3dup
|
rs2150924916
|
|
NM_004937.3(CTNS):c.852+243A>G
|
rs465221
|
|
NM_004937.3(CTNS):c.852+259C>G
|
rs12325922
|
|
NM_004937.3(CTNS):c.971-13dup
|
|
|