602559
chr3:191046874:G>A
CCDC50
NM_178335:c.-590G>A
FIVE_PRIME_EXON
Unknown significance
rs527830777
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
602560
chr3:191046875:G>C
CCDC50
NM_178335:c.-589G>C
FIVE_PRIME_EXON
Unknown significance
rs377672567
This variant is a VUS because it does not have enough information.
602561
chr3:191046877:A>G
CCDC50
NM_178335:c.-587A>G
FIVE_PRIME_EXON
Benign
rs115064906
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
4
320
0.0125
0
320
0
0
400
0
0
360
0
0
200
0
4
2000
0.002
95
1322
0.0719
0
1006
0
7
694
0.0101
0
1008
0
0
978
0
102
5008
0.0203674
602562
chr3:191046930:C>G
CCDC50
NM_198152:c.-664-432G>C
FIVE_PRIME_INTRON
Benign
rs79488711
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
3
320
0.009375
0
400
0
0
360
0
0
200
0
3
2000
0.0015
82
1322
0.062
0
1006
0
3
694
0.0043
0
1008
0
0
978
0
85
5008
0.0169728
602563
chr3:191046953:A>C
CCDC50
NM_198152:c.-664-455T>G
FIVE_PRIME_INTRON
Benign
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
1
320
0.003125
0
400
0
0
360
0
1
200
0.005
2
2000
0.001
602564
chr3:191046958:C>T
CCDC50
NM_198152:c.-664-460G>A
FIVE_PRIME_INTRON
Benign
rs563999965
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
1
320
0.003125
0
320
0
0
400
0
3
360
0.00833333
0
200
0
4
2000
0.002
0
1322
0
0
1006
0
2
694
0.0029
0
1008
0
0
978
0
2
5008
0.000399361
602565
chr3:191046966:A>G
CCDC50
NM_198152:c.-664-468T>C
FIVE_PRIME_INTRON
Unknown significance
This variant is a VUS because it does not have enough information.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
602566
chr3:191046980:C>A
CCDC50
NM_198152:c.-664-482G>T
FIVE_PRIME_INTRON
Unknown significance
rs556458448
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602567
chr3:191046980:C>G
CCDC50
NM_198152:c.-664-482G>C
FIVE_PRIME_INTRON
Unknown significance
This variant is a VUS because it does not have enough information.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
602568
chr3:191046985:G>C
CCDC50
NM_198152:c.-664-487C>G
FIVE_PRIME_INTRON
Benign
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
0
320
0
2
400
0.005
0
360
0
0
200
0
2
2000
0.001
602569
chr3:191046988:G>T
CCDC50
NM_198152:c.-664-490C>A
FIVE_PRIME_INTRON
Unknown significance
rs569966613
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
602570
chr3:191046997:C>G
CCDC50
NM_198152:c.-664-499G>C
FIVE_PRIME_INTRON
Unknown significance
This variant is a VUS because it does not have enough information.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
602571
chr3:191047001:G>C
CCDC50
NM_198152:c.-664-503C>G
FIVE_PRIME_INTRON
Benign
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
2
320
0.00625
0
400
0
0
360
0
0
200
0
2
2000
0.001
602572
chr3:191047007:G>A
CCDC50
NM_198152:c.-664-509C>T
FIVE_PRIME_INTRON
Benign
rs368705093
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
22
1322
0.0166
1
1006
0.001
1
694
0.0014
0
1008
0
0
978
0
24
5008
0.00479233
602573
chr3:191047021:G>C
CCDC50
NM_198152:c.-664-523C>G
FIVE_PRIME_INTRON
Unknown significance
rs370251749
This variant is a VUS because it does not have enough information.
602574
chr3:191047042:A>G
CCDC50
NM_198152:c.-664-544T>C
FIVE_PRIME_INTRON
Unknown significance
rs558308250
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
2
1008
0.002
0
978
0
2
5008
0.000399361
602575
chr3:191047043:A>G
CCDC50
NM_198152:c.-664-545T>C
FIVE_PRIME_INTRON
Unknown significance
rs572003667
This variant is a VUS because it does not have enough information.
0
1322
0
1
1006
0.001
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602576
chr3:191047044:C>A
CCDC50
NM_198152:c.-664-546G>T
FIVE_PRIME_INTRON
Unknown significance
This variant is a VUS because it does not have enough information.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
602577
chr3:191047050:G>A
CCDC50
NM_198152:c.-664-552C>T
FIVE_PRIME_INTRON
Benign
rs182001630
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
1
320
0.003125
0
320
0
0
400
0
2
360
0.00555556
0
200
0
3
2000
0.0015
0
1322
0
10
1006
0.0099
4
694
0.0058
0
1008
0
0
978
0
14
5008
0.00279553
602578
chr3:191047074:C>T
CCDC50
NM_198152:c.-664-576G>A
FIVE_PRIME_INTRON
Unknown significance
rs554615955
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
602579
chr3:191047077:G>C
CCDC50
NM_198152:c.-664-579C>G
FIVE_PRIME_INTRON
Unknown significance
This variant is a VUS because it does not have enough information.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
602580
chr3:191047081:G>A
CCDC50
NM_198152:c.-664-583C>T
FIVE_PRIME_INTRON
Benign
rs186382346
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
1
320
0.003125
1
320
0.003125
0
400
0
0
360
0
0
200
0
2
2000
0.001
0
1322
0
7
1006
0.007
3
694
0.0043
0
1008
0
2
978
0.002
12
5008
0.00239617
602581
chr3:191047104:A>C
CCDC50
NM_198152:c.-664-606T>G
FIVE_PRIME_INTRON
Benign
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
1
320
0.003125
0
400
0
0
360
0
3
200
0.015
4
2000
0.002
602582
chr3:191047113:T>C
CCDC50
NM_198152:c.-664-615A>G
FIVE_PRIME_INTRON
Benign
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
7
320
0.021875
1
400
0.0025
1
360
0.00277778
4
200
0.02
13
2000
0.0065
602583
chr3:191047119:T>C
CCDC50
NM_198152:c.-664-621A>G
FIVE_PRIME_INTRON
Benign
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
3
400
0.0075
1
320
0.003125
13
320
0.040625
3
400
0.0075
1
360
0.00277778
10
200
0.05
31
2000
0.0155
602584
chr3:191047137:C>A
CCDC50
NM_198152:c.-664-639G>T
FIVE_PRIME_INTRON
Unknown significance
rs543596924
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
1
978
0.001
2
5008
0.000399361
602585
chr3:191047137:C>G
CCDC50
NM_198152:c.-664-639G>C
FIVE_PRIME_INTRON
Unknown significance
rs543596924
This variant is a VUS because it does not have enough information.
1
400
0.0025
0
320
0
0
320
0
0
400
0
1
360
0.00277778
0
200
0
2
2000
0.001
1
1322
0.0008
0
1006
0
0
694
0
1
1008
0.001
0
978
0
2
5008
0.000399361
602586
chr3:191047195:C>T
CCDC50
NM_198152:c.-664-697G>A
FIVE_PRIME_INTRON
Unknown significance
rs762296609
This variant is a VUS because it does not have enough information.
602587
chr3:191047206:T>C
CCDC50
NM_198152:c.-664-708A>G
FIVE_PRIME_INTRON
Unknown significance
rs766656856
This variant is a VUS because it does not have enough information.
602588
chr3:191047208:T>A
CCDC50
NM_198152:c.-664-710A>T
FIVE_PRIME_INTRON
Benign
rs189322853
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
0
320
0
2
400
0.005
0
360
0
0
200
0
2
2000
0.001
0
1322
0
0
1006
0
0
694
0
6
1008
0.006
0
978
0
6
5008
0.00119808
602589
chr3:191047210:G>C
CCDC50
NM_198152:c.-664-712C>G
FIVE_PRIME_INTRON
Unknown significance
rs546077453
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
2
978
0.002
2
5008
0.000399361
602590
chr3:191047236:T>G
CCDC50
NM_198152:c.-664-738A>C
FIVE_PRIME_INTRON
Unknown significance
This variant is a VUS because it does not have enough information.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
602591
chr3:191047242:C>T
CCDC50
NM_198152:c.-664-744G>A
FIVE_PRIME_INTRON
Benign
rs56141214
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
2
1322
0.0015
13
1006
0.0129
5
694
0.0072
0
1008
0
8
978
0.0082
28
5008
0.00559105
602592
chr3:191047243:G>A
CCDC50
NM_198152:c.-664-745C>T
FIVE_PRIME_INTRON
Unknown significance
rs527667803
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602593
chr3:191047253:C>A
CCDC50
NM_198152:c.-664-755G>T
FIVE_PRIME_INTRON
Unknown significance
This variant is a VUS because it does not have enough information.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
602594
chr3:191047254:T>G
CCDC50
NM_198152:c.-664-756A>C
FIVE_PRIME_INTRON
Unknown significance
This variant is a VUS because it does not have enough information.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
602595
chr3:191047257:G>A
CCDC50
NM_198152:c.-664-759C>T
FIVE_PRIME_INTRON
Unknown significance
rs547588998
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
1
978
0.001
2
5008
0.000399361
602596
chr3:191047267:T>C
CCDC50
NM_198152:c.-664-769A>G
FIVE_PRIME_INTRON
Unknown significance
rs561015727
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
602597
chr3:191047271:G>T
CCDC50
NM_198152:c.-664-773C>A
FIVE_PRIME_INTRON
Unknown significance
rs373639139
This variant is a VUS because it does not have enough information.
602598
chr3:191047298:G>C
CCDC50
NM_198152:c.-664-800C>G
FIVE_PRIME_INTRON
Benign
rs530233231
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
1
1322
0.0008
0
1006
0
0
694
0
5
1008
0.005
0
978
0
6
5008
0.00119808
602599
chr3:191047302:A>C
CCDC50
NM_198152:c.-664-804T>G
FIVE_PRIME_INTRON
Benign
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
2
320
0.00625
0
400
0
0
360
0
4
200
0.02
6
2000
0.003
602600
chr3:191047321:A>C
CCDC50
NM_198152:c.-664-823T>G
FIVE_PRIME_INTRON
Unknown significance
This variant is a VUS because it does not have enough information.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
602601
chr3:191047332:T>C
CCDC50
NM_198152:c.-664-834A>G
FIVE_PRIME_INTRON
Unknown significance
rs759694778
This variant is a VUS because it does not have enough information.
602602
chr3:191047352:C>T
CCDC50
NM_198152:c.-665+851G>A
FIVE_PRIME_INTRON
Unknown significance
rs549921256
This variant is a VUS because it does not have enough information.
5
1322
0.0038
0
1006
0
0
694
0
0
1008
0
0
978
0
5
5008
0.000998403
602603
chr3:191047368:C>T
CCDC50
NM_198152:c.-665+835G>A
FIVE_PRIME_INTRON
Benign
rs569905893
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
0
694
0
6
1008
0.006
1
978
0.001
7
5008
0.00139776
602604
chr3:191047401:C>G
CCDC50
NM_198152:c.-665+802G>C
FIVE_PRIME_INTRON
Benign
rs377067940
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
1
320
0.003125
9
400
0.0225
0
360
0
0
200
0
10
2000
0.005
0
1322
0
2
1006
0.002
0
694
0
44
1008
0.0437
4
978
0.0041
50
5008
0.00998403
602605
chr3:191047413:G>C
CCDC50
NM_198152:c.-665+790C>G
FIVE_PRIME_INTRON
Unknown significance
rs752882736
This variant is a VUS because it does not have enough information.
602606
chr3:191047414:C>T
CCDC50
NM_198152:c.-665+789G>A
FIVE_PRIME_INTRON
Unknown significance
rs765456121
This variant is a VUS because it does not have enough information.
0
5064
0
0
5090
0
0
4754
0
0
2406
0
1
36702
2.72465e-05
0
434
0
0
11474
0
1
65924
1.5169e-05
602607
chr3:191047415:G>A
CCDC50
NM_198152:c.-665+788C>T
FIVE_PRIME_INTRON
Unknown significance
rs552812594
This variant is a VUS because it does not have enough information.
0
5108
0
1
5146
0.000194326
0
4818
0
0
2428
0
0
37028
0
0
438
0
0
11522
0
1
66488
1.50403e-05
602608
chr3:191047415:G>C
CCDC50
NM_198152:c.-665+788C>G
FIVE_PRIME_INTRON
Unknown significance
rs552812594
This variant is a VUS because it does not have enough information.
0
5108
0
0
5146
0
0
4818
0
0
2428
0
1
37028
2.70066e-05
0
438
0
0
11522
0
1
66488
1.50403e-05
602609
chr3:191047415:G>T
CCDC50
NM_198152:c.-665+788C>A
FIVE_PRIME_INTRON
Unknown significance
rs552812594
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
2
978
0.002
2
5008
0.000399361
0
5108
0
0
5146
0
1
4818
0.000207555
0
2428
0
0
37028
0
0
438
0
3
11522
0.000260371
4
66488
6.01612e-05
602610
chr3:191047417:T>C
CCDC50
NM_198152:c.-665+786A>G
FIVE_PRIME_INTRON
Unknown significance
rs751082608
This variant is a VUS because it does not have enough information.
0
5106
0
0
5162
0
0
4828
0
0
2360
0
2
36956
5.41184e-05
0
428
0
0
11530
0
2
66370
3.01341e-05
602611
chr3:191047417:T>G
CCDC50
NM_198152:c.-665+786A>C
FIVE_PRIME_INTRON
Unknown significance
This variant is a VUS because it does not have enough information.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
602612
chr3:191047424:G>A
CCDC50
NM_198152:c.-665+779C>T
FIVE_PRIME_INTRON
Unknown significance
rs754496307
This variant is a VUS because it does not have enough information.
0
5292
0
0
5408
0
0
4970
0
0
2470
0
0
38024
0
0
436
0
0
11618
0
0
68218
0
602613
chr3:191047430:->CG
CCDC50
NM_198152:c.-665+773_-665+774insCG
FIVE_PRIME_INTRON
Unknown significance
rs777594658
This variant is a VUS because it does not have enough information.
0
5390
0
3
5476
0.000547845
0
5036
0
0
2564
0
0
38542
0
0
446
0
0
11656
0
3
69110
4.34091e-05
602614
chr3:191047432:C>A
CCDC50
NM_198152:c.-665+771G>T
FIVE_PRIME_INTRON
Unknown significance
This variant is a VUS because it does not have enough information.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
602615
chr3:191047443:C>T
CCDC50
NM_198152:c.-665+760G>A
FIVE_PRIME_INTRON
Unknown significance
rs767074558
This variant is a VUS because it does not have enough information.
0
5792
0
1
6014
0.000166279
0
5394
0
0
2810
0
1
40956
2.44164e-05
0
472
0
0
11882
0
2
73320
2.72777e-05
602616
chr3:191047445:A>C
CCDC50
NM_198152:c.-665+758T>G
FIVE_PRIME_INTRON
Unknown significance
rs565556736
This variant is a VUS because it does not have enough information.
0
5844
0
1
6116
0.000163506
0
5494
0
0
2868
0
0
41608
0
0
474
0
0
11934
0
1
74338
1.34521e-05
602617
chr3:191047445:A>G
CCDC50
NM_198152:c.-665+758T>C
FIVE_PRIME_INTRON
Unknown significance
rs565556736
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
1
5844
0.000171116
0
6116
0
0
5494
0
0
2868
0
1
41608
2.40338e-05
0
474
0
0
11934
0
2
74338
2.69041e-05
602618
chr3:191047446:C>T
CCDC50
NM_198152:c.-665+757G>A
FIVE_PRIME_INTRON
Unknown significance
rs777422774
This variant is a VUS because it does not have enough information.
0
5880
0
0
6148
0
0
5528
0
0
2868
0
1
41814
2.39154e-05
0
474
0
0
11962
0
1
74674
1.33915e-05
602619
chr3:191047453:C>T
CCDC50
NM_198152:c.-665+750G>A
FIVE_PRIME_INTRON
Unknown significance
rs200881119
This variant is a VUS because it does not have enough information.
1
8580
0.00011655
0
4390
0
1
12970
7.7101e-05
0
1322
0
1
1006
0.001
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
0
6202
0
0
6586
0
0
5788
0
0
3042
0
6
43704
0.000137287
0
502
0
0
12160
0
6
77984
7.69389e-05
602620
chr3:191047454:C>G
CCDC50
NM_198152:c.-665+749G>C
FIVE_PRIME_INTRON
Unknown significance
rs758593166
This variant is a VUS because it does not have enough information.
0
6220
0
0
6640
0
0
5812
0
0
3054
0
0
43972
0
0
504
0
0
12176
0
0
78378
0
602621
chr3:191047459:C>T
CCDC50
NM_198152:c.-665+744G>A
FIVE_PRIME_INTRON
Unknown significance
rs369650091
This variant is a VUS because it does not have enough information.
1
8588
0.000116442
0
4394
0
1
12982
7.70297e-05
602622
chr3:191047461:G>T
CCDC50
NM_198152:c.-665+742C>A
FIVE_PRIME_INTRON
Unknown significance
rs780213766
This variant is a VUS because it does not have enough information.
0
6470
0
0
7048
0
0
6056
0
0
3246
0
2
46036
4.34443e-05
0
536
0
0
12396
0
2
81788
2.44535e-05
602623
chr3:191047466:G>C
CCDC50
NM_178335:p.Met1Ile
NM_178335:c.3G>C
EXON1
Unknown significance
rs747258229
This variant is a VUS because it does not have enough information.
1.048
C
0.008;0.009
D
0.802;0.77
P
7.5e-05
D
1
D;D
4.06
C
0
6692
0
0
7402
0
0
6260
0
0
3376
0
1
47618
2.10005e-05
0
560
0
0
12530
0
1
84438
1.1843e-05
602624
chr3:191047492:A>G
CCDC50
NM_178335:p.Lys10Arg
NM_178335:c.29A>G
EXON1
Unknown significance
rs371977652
This variant is a VUS because it does not have enough information.
1.199
C
0.189;0.107
T
0.002;0.066
B
0
D
0.684505
D;D;D
4.24
C
0
8594
0
1
4400
0.000227273
1
12994
7.69586e-05
1
7228
0.000138351
0
8310
0
0
6764
0
0
3892
0
0
51470
0
0
592
0
0
12942
0
1
91198
1.09652e-05
602625
chr3:191047496:G>A
CCDC50
NM_178335:p.Leu11Leu
NM_178335:c.33G>A
EXON1
Unknown significance
rs376222034
This variant is a VUS because it does not have enough information.
0
8594
0
1
4400
0.000227273
1
12994
7.69586e-05
1
7264
0.000137665
0
8360
0
0
6802
0
0
3914
0
0
51594
0
0
586
0
0
12956
0
1
91476
1.09318e-05
602626
chr3:191047496:G>C
CCDC50
NM_178335:p.Leu11Leu
NM_178335:c.33G>C
EXON1
Unknown significance
rs376222034
This variant is a VUS because it does not have enough information.
0
7264
0
0
8360
0
0
6802
0
0
3914
0
1
51594
1.93821e-05
0
586
0
0
12956
0
1
91476
1.09318e-05
602627
chr3:191047496:G>T
CCDC50
NM_178335:p.Leu11Leu
NM_178335:c.33G>T
EXON1
Unknown significance
rs376222034
This variant is a VUS because it does not have enough information.
0
7264
0
0
8360
0
0
6802
0
0
3914
0
0
51594
0
0
586
0
1
12956
7.71843e-05
1
91476
1.09318e-05
602628
chr3:191047498:C>G
CCDC50
NM_178335:p.Pro12Arg
NM_178335:c.35C>G
EXON1
Unknown significance
rs369242713
This variant is a VUS because it does not have enough information.
0.892
N
0.002;0.015
D
0.631;0.321
P;B
2e-06
N
0.984247
D;D;D
4.11
C
0
8594
0
1
4402
0.000227169
1
12996
7.69468e-05
1
7296
0.000137061
0
8396
0
0
6808
0
0
3924
0
0
51684
0
0
590
0
0
12982
0
1
91680
1.09075e-05
602629
chr3:191047511:A>G
CCDC50
NM_178335:p.Glu16Glu
NM_178335:c.48A>G
EXON1
Unknown significance
rs200522442
This variant is a VUS because it does not have enough information.
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
0
7344
0
0
8462
0
1
6856
0.000145858
0
3938
0
1
51746
1.93252e-05
0
600
0
0
13024
0
2
91970
2.17462e-05
602630
chr3:191047514:T>G
CCDC50
NM_178335:c.49+2T>G
INTRON1
Unknown significance
This variant is a VUS because it does not have enough information.
0.079
N
1
D
4.06
C
0
400
0
0
320
0
0
320
0
0
400
0
0
360
0
0
200
0
0
2000
0
602631
chr3:191047517:G>C
CCDC50
NM_178335:c.49+5G>C
INTRON1
Unknown significance
rs771452677
This variant is a VUS because it does not have enough information.
0
7336
0
0
8404
0
0
6836
0
0
3868
0
1
51466
1.94303e-05
0
596
0
0
12980
0
1
91486
1.09306e-05
602632
chr3:191047518:G>T
CCDC50
NM_178335:c.49+6G>T
INTRON1
Unknown significance
rs774098362
This variant is a VUS because it does not have enough information.
0
7350
0
1
8448
0.000118371
0
6838
0
0
3866
0
0
51530
0
0
596
0
0
12984
0
1
91612
1.09156e-05
602633
chr3:191047520:C>T
CCDC50
NM_178335:c.49+8C>T
INTRON1
Unknown significance
rs759274331
This variant is a VUS because it does not have enough information.
0
7356
0
0
8440
0
1
6820
0.000146628
0
3880
0
1
51504
1.9416e-05
0
596
0
0
13002
0
2
91598
2.18345e-05
602634
chr3:191047531:GAGCGCGC>-
CCDC50
NM_198152:c.-665+672_-665+681delGCGCGCTC
FIVE_PRIME_INTRON
Unknown significance
rs749191633
This variant is a VUS because it does not have enough information.
0
7284
0
0
8356
0
0
6810
0
0
3818
0
1
51038
1.95932e-05
0
574
0
0
12980
0
1
90860
1.10059e-05
602635
chr3:191047532:A>G
CCDC50
NM_198152:c.-665+671T>C
FIVE_PRIME_INTRON
Benign
rs9847278
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
4554
8592
0.530028
3692
4394
0.840237
8246
12986
0.634992
1199
1322
0.907
558
1006
0.5547
509
694
0.7334
923
1008
0.9157
701
978
0.7168
3890
5008
0.776757
7060
8176
0.863503
7624
9468
0.805239
6984
7510
0.92996
2749
4490
0.612249
30037
53926
0.557004
408
640
0.6375
9761
14012
0.696617
64623
98222
0.657928
602636
chr3:191047538:C>T
CCDC50
NM_198152:c.-665+665G>A
FIVE_PRIME_INTRON
Unknown significance
rs752316047
This variant is a VUS because it does not have enough information.
0
6692
0
0
6674
0
0
6008
0
0
3196
0
0
45922
0
0
498
0
1
12216
8.18599e-05
1
81206
1.23144e-05
602638
chr3:191047542:A>C
CCDC50
NM_198152:c.-665+661T>G
FIVE_PRIME_INTRON
Benign
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
400
0
0
320
0
1
320
0.003125
0
400
0
0
360
0
1
200
0.005
2
2000
0.001
602637
chr3:191047543:->C
CCDC50
NM_198152:c.-665+660_-665+661insG
FIVE_PRIME_INTRON
Unknown significance
rs770921574
This variant is a VUS because it does not have enough information.
1
6550
0.000152672
0
6430
0
0
5852
0
0
3020
0
0
45112
0
0
492
0
0
12090
0
1
79546
1.25713e-05
602639
chr3:191047545:C>T
CCDC50
NM_198152:c.-665+658G>A
FIVE_PRIME_INTRON
Unknown significance
rs760514143
This variant is a VUS because it does not have enough information.
0
6410
0
0
6100
0
0
5724
0
0
2936
0
2
44056
4.53968e-05
0
478
0
0
11936
0
2
77640
2.57599e-05
602640
chr3:191047550:C>T
CCDC50
NM_198152:c.-665+653G>A
FIVE_PRIME_INTRON
Unknown significance
rs764136372
This variant is a VUS because it does not have enough information.
0
6212
0
0
5758
0
0
5486
0
0
2784
0
0
42588
0
0
446
0
1
11756
8.50629e-05
1
75030
1.3328e-05
602641
chr3:191047561:C>G
CCDC50
NM_198152:c.-665+642G>C
FIVE_PRIME_INTRON
Unknown significance
rs753595322
This variant is a VUS because it does not have enough information.
0
5756
0
0
4852
0
0
4924
0
0
2436
0
0
39132
0
0
424
0
1
11348
8.81213e-05
1
68872
1.45197e-05
602642
chr3:191047561:C>T
CCDC50
NM_198152:c.-665+642G>A
FIVE_PRIME_INTRON
Unknown significance
rs753595322
This variant is a VUS because it does not have enough information.
0
5756
0
0
4852
0
0
4924
0
0
2436
0
1
39132
2.55545e-05
0
424
0
0
11348
0
1
68872
1.45197e-05
602643
chr3:191047601:C>T
CCDC50
NM_198152:c.-665+602G>A
FIVE_PRIME_INTRON
Unknown significance
rs761335781
This variant is a VUS because it does not have enough information.
602644
chr3:191047618:G>A
CCDC50
NM_198152:c.-665+585C>T
FIVE_PRIME_INTRON
Unknown significance
rs537136473
This variant is a VUS because it does not have enough information.
1
1322
0.0008
3
1006
0.003
0
694
0
0
1008
0
0
978
0
4
5008
0.000798722
602645
chr3:191047636:T>C
CCDC50
NM_198152:c.-665+567A>G
FIVE_PRIME_INTRON
Unknown significance
rs557241032
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
602646
chr3:191047672:G>A
CCDC50
NM_198152:c.-665+531C>T
FIVE_PRIME_INTRON
Unknown significance
rs577093592
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
602647
chr3:191047694:C>T
CCDC50
NM_198152:c.-665+509G>A
FIVE_PRIME_INTRON
Benign
rs138071761
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
11
1322
0.0083
1
1006
0.001
1
694
0.0014
0
1008
0
0
978
0
13
5008
0.00259585
602648
chr3:191047702:C>G
CCDC50
NM_198152:c.-665+501G>C
FIVE_PRIME_INTRON
Benign
rs373754274
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
12
1322
0.0091
0
1006
0
0
694
0
0
1008
0
0
978
0
12
5008
0.00239617
602649
chr3:191047722:G>-
CCDC50
NM_198152:c.-665+481delC
FIVE_PRIME_INTRON
Unknown significance
rs34343070
This variant is a VUS because it does not have enough information.
602650
chr3:191047724:G>A
CCDC50
NM_198152:c.-665+479C>T
FIVE_PRIME_INTRON
Unknown significance
rs572368356
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
2
1008
0.002
1
978
0.001
4
5008
0.000798722
602651
chr3:191047726:G>T
CCDC50
NM_198152:c.-665+477C>A
FIVE_PRIME_INTRON
Benign
rs112686490
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
73
1322
0.0552
1
1006
0.001
3
694
0.0043
0
1008
0
0
978
0
77
5008
0.0153754
602652
chr3:191047731:->GG
CCDC50
NM_198152:c.-665+472_-665+473insCC
FIVE_PRIME_INTRON
Unknown significance
rs201807267
This variant is a VUS because it does not have enough information.
602654
chr3:191047731:T>G
CCDC50
NM_198152:c.-665+472A>C
FIVE_PRIME_INTRON
Benign
rs117340948
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
263
1322
0.1989
273
1006
0.2714
227
694
0.3271
660
1008
0.6548
462
978
0.4724
1885
5008
0.376398
602655
chr3:191047731:TG>GGT
CCDC50
Unknown significance
rs386669593
This variant is a VUS because it does not have enough information.
602653
chr3:191047731:TGG>-
CCDC50
NM_198152:c.-665+472_-665+476delCCA
FIVE_PRIME_INTRON
Unknown significance
rs776698440
This variant is a VUS because it does not have enough information.
602657
chr3:191047731:TGG>GGT
CCDC50
Unknown significance
rs796661640
This variant is a VUS because it does not have enough information.
602656
chr3:191047732:G>-
CCDC50
NM_198152:c.-665+471delC
FIVE_PRIME_INTRON
Unknown significance
rs34226642
This variant is a VUS because it does not have enough information.
602658
chr3:191047732:GG>-
CCDC50
NM_198152:c.-665+471_-665+474delCC
FIVE_PRIME_INTRON
Unknown significance
rs796510308
This variant is a VUS because it does not have enough information.
602659
chr3:191047732:GGG>-
CCDC50
NM_198152:c.-665+471_-665+475delCCC
FIVE_PRIME_INTRON
Benign
rs71787406
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
1253
1322
0.9478
506
1006
0.503
493
694
0.7104
917
1008
0.9097
722
978
0.7382
3891
5008
0.776957
602660
chr3:191047733:->T
CCDC50
NM_198152:c.-665+470_-665+471insA
FIVE_PRIME_INTRON
Unknown significance
rs200621344
This variant is a VUS because it does not have enough information.
602661
chr3:191047733:G>C
CCDC50
NM_198152:c.-665+470C>G
FIVE_PRIME_INTRON
Unknown significance
rs113576372
This variant is a VUS because it does not have enough information.
602662
chr3:191047733:G>T
CCDC50
NM_198152:c.-665+470C>A
FIVE_PRIME_INTRON
Unknown significance
rs113576372
This variant is a VUS because it does not have enough information.
602663
chr3:191047734:GGG>-
CCDC50
NM_198152:c.-665+469_-665+473delCCC
FIVE_PRIME_INTRON
Unknown significance
rs377548552
This variant is a VUS because it does not have enough information.
602664
chr3:191047735:G>A
CCDC50
NM_198152:c.-665+468C>T
FIVE_PRIME_INTRON
Unknown significance
rs796791217
This variant is a VUS because it does not have enough information.
602665
chr3:191047735:G>T
CCDC50
NM_198152:c.-665+468C>A
FIVE_PRIME_INTRON
Unknown significance
rs796791217
This variant is a VUS because it does not have enough information.
602666
chr3:191047736:G>A
CCDC50
NM_198152:c.-665+467C>T
FIVE_PRIME_INTRON
Unknown significance
rs796994464
This variant is a VUS because it does not have enough information.
602667
chr3:191047739:GGG>-
CCDC50
NM_198152:c.-665+464_-665+468delCCC
FIVE_PRIME_INTRON
Unknown significance
rs374485456
This variant is a VUS because it does not have enough information.
602668
chr3:191047740:G>C
CCDC50
NM_198152:c.-665+463C>G
FIVE_PRIME_INTRON
Benign
rs530173086
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
68
1322
0.0514
1
1006
0.001
3
694
0.0043
0
1008
0
0
978
0
72
5008
0.014377
602669
chr3:191047741:GGGG>-
CCDC50
NM_198152:c.-665+462_-665+467delCCCC
FIVE_PRIME_INTRON
Unknown significance
rs371484673
This variant is a VUS because it does not have enough information.
602670
chr3:191047743:G>A
CCDC50
NM_198152:c.-665+460C>T
FIVE_PRIME_INTRON
Unknown significance
rs115986233
This variant is a VUS because it does not have enough information.
602671
chr3:191047743:G>T
CCDC50
NM_198152:c.-665+460C>A
FIVE_PRIME_INTRON
Benign
rs115986233
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
1253
1322
0.9478
506
1006
0.503
493
694
0.7104
917
1008
0.9097
722
978
0.7382
3891
5008
0.776957
602672
chr3:191047744:G>C
CCDC50
NM_198152:c.-665+459C>G
FIVE_PRIME_INTRON
Unknown significance
rs75704230
This variant is a VUS because it does not have enough information.
602673
chr3:191047749:G>C
CCDC50
NM_198152:c.-665+454C>G
FIVE_PRIME_INTRON
Unknown significance
rs563568334
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
602674
chr3:191047760:A>G
CCDC50
NM_198152:c.-665+443T>C
FIVE_PRIME_INTRON
Benign
rs112961570
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
144
1322
0.1089
1
1006
0.001
3
694
0.0043
0
1008
0
0
978
0
148
5008
0.0295527
602675
chr3:191047765:GTAG>-
CCDC50
NM_198152:c.-665+438_-665+443delCTAC
FIVE_PRIME_INTRON
Benign
rs149391985
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
247
1322
0.1868
212
1006
0.2107
211
694
0.304
661
1008
0.6558
452
978
0.4622
1783
5008
0.35603
602676
chr3:191047786:C>T
CCDC50
NM_198152:c.-665+417G>A
FIVE_PRIME_INTRON
Unknown significance
rs372269242
This variant is a VUS because it does not have enough information.
602677
chr3:191047798:->AA
CCDC50
NM_198152:c.-665+405_-665+406insTT
FIVE_PRIME_INTRON
Benign
rs530727281
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
0
694
0
0
1008
0
8
978
0.0082
8
5008
0.00159744
602678
chr3:191047809:G>A
CCDC50
NM_198152:c.-665+394C>T
FIVE_PRIME_INTRON
Benign
rs76764411
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
5
694
0.0072
44
1008
0.0437
1
978
0.001
50
5008
0.00998403
602679
chr3:191047823:G>A
CCDC50
NM_198152:c.-665+380C>T
FIVE_PRIME_INTRON
Unknown significance
rs528714415
This variant is a VUS because it does not have enough information.
602680
chr3:191047837:T>C
CCDC50
NM_198152:c.-665+366A>G
FIVE_PRIME_INTRON
Unknown significance
rs376630886
This variant is a VUS because it does not have enough information.
602681
chr3:191047841:C>T
CCDC50
NM_198152:c.-665+362G>A
FIVE_PRIME_INTRON
Unknown significance
rs754462389
This variant is a VUS because it does not have enough information.
602682
chr3:191047845:T>G
CCDC50
NM_198152:c.-665+358A>C
FIVE_PRIME_INTRON
Benign
rs551880548
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
5
1006
0.005
5
694
0.0072
0
1008
0
3
978
0.0031
13
5008
0.00259585
602683
chr3:191047853:A>T
CCDC50
NM_198152:c.-665+350T>A
FIVE_PRIME_INTRON
Unknown significance
rs571814407
This variant is a VUS because it does not have enough information.
602684
chr3:191047860:G>A
CCDC50
NM_198152:c.-665+343C>T
FIVE_PRIME_INTRON
Unknown significance
rs752388315
This variant is a VUS because it does not have enough information.
602685
chr3:191047870:G>T
CCDC50
NM_198152:c.-665+333C>A
FIVE_PRIME_INTRON
Unknown significance
rs758021787
This variant is a VUS because it does not have enough information.
602686
chr3:191047882:G>C
CCDC50
NM_198152:c.-665+321C>G
FIVE_PRIME_INTRON
Unknown significance
rs186535825
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602687
chr3:191047943:C>A
CCDC50
NM_198152:c.-665+260G>T
FIVE_PRIME_INTRON
Unknown significance
rs548249945
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
602688
chr3:191047959:C>A
CCDC50
NM_198152:c.-665+244G>T
FIVE_PRIME_INTRON
Unknown significance
rs146100100
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602689
chr3:191047961:C>T
CCDC50
NM_198152:c.-665+242G>A
FIVE_PRIME_INTRON
Unknown significance
rs537175181
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
1
1008
0.001
0
978
0
2
5008
0.000399361
602690
chr3:191047963:C>T
CCDC50
NM_198152:c.-665+240G>A
FIVE_PRIME_INTRON
Unknown significance
rs557079480
This variant is a VUS because it does not have enough information.
0
1322
0
1
1006
0.001
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602691
chr3:191047966:C>G
CCDC50
NM_198152:c.-665+237G>C
FIVE_PRIME_INTRON
Benign
rs4677629
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
261
1322
0.1974
330
1006
0.328
240
694
0.3458
694
1008
0.6885
481
978
0.4918
2006
5008
0.400559
602692
chr3:191047974:A>T
CCDC50
NM_198152:c.-665+229T>A
FIVE_PRIME_INTRON
Unknown significance
rs539588479
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
4
978
0.0041
4
5008
0.000798722
602693
chr3:191048011:C>T
CCDC50
NM_198152:c.-665+192G>A
FIVE_PRIME_INTRON
Unknown significance
rs552993161
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602694
chr3:191048013:A>G
CCDC50
NM_198152:c.-665+190T>C
FIVE_PRIME_INTRON
Unknown significance
rs757146060
This variant is a VUS because it does not have enough information.
602695
chr3:191048060:A>C
CCDC50
NM_198152:c.-665+143T>G
FIVE_PRIME_INTRON
Unknown significance
rs573050639
This variant is a VUS because it does not have enough information.
6
1322
0.0045
0
1006
0
0
694
0
0
1008
0
0
978
0
6
5008
0.00119808
602696
chr3:191048084:AAAC>-
CCDC50
NM_198152:c.-665+119_-665+124delGTTT
FIVE_PRIME_INTRON
Unknown significance
rs771226054
This variant is a VUS because it does not have enough information.
602697
chr3:191048084:AAACAC>-
CCDC50
NM_198152:c.-665+119_-665+126delGTGTTT
FIVE_PRIME_INTRON
Unknown significance
rs757942773
This variant is a VUS because it does not have enough information.
602698
chr3:191048086:->ACAC
CCDC50
NM_198152:c.-665+117_-665+118insGTGT
FIVE_PRIME_INTRON
Unknown significance
rs60093642
This variant is a VUS because it does not have enough information.
602699
chr3:191048086:AC>-
CCDC50
NM_198152:c.-665+117_-665+120delGT
FIVE_PRIME_INTRON
Unknown significance
rs375069148
This variant is a VUS because it does not have enough information.
602700
chr3:191048086:ACAC>-
CCDC50
NM_198152:c.-665+117_-665+122delGTGT
FIVE_PRIME_INTRON
Unknown significance
rs145963421
This variant is a VUS because it does not have enough information.
602701
chr3:191048086:ACACAC>-
CCDC50
NM_198152:c.-665+117_-665+124delGTGTGT
FIVE_PRIME_INTRON
Unknown significance
rs751213018
This variant is a VUS because it does not have enough information.
602702
chr3:191048086:ACACACAC>-
CCDC50
NM_198152:c.-665+117_-665+126delGTGTGTGT
FIVE_PRIME_INTRON
Unknown significance
rs139789586
This variant is a VUS because it does not have enough information.
602703
chr3:191048086:ACACACACACACAC>-
CCDC50
NM_198152:c.-665+117_-665+132delGTGTGTGTGTGTGT
FIVE_PRIME_INTRON
Unknown significance
rs112679174
This variant is a VUS because it does not have enough information.
602704
chr3:191048086:ACACACACACACACAC>-
CCDC50
NM_198152:c.-665+117_-665+134delGTGTGTGTGTGTGTGT
FIVE_PRIME_INTRON
Unknown significance
rs796235829
This variant is a VUS because it does not have enough information.
602705
chr3:191048091:C>T
CCDC50
NM_198152:c.-665+112G>A
FIVE_PRIME_INTRON
Unknown significance
rs781122507
This variant is a VUS because it does not have enough information.
602706
chr3:191048105:C>G
CCDC50
NM_198152:c.-665+98G>C
FIVE_PRIME_INTRON
Unknown significance
rs550951954
This variant is a VUS because it does not have enough information.
602707
chr3:191048109:CACACAC>-
CCDC50
NM_198152:c.-665+94_-665+102delGTGTGTG
FIVE_PRIME_INTRON
Unknown significance
rs753370890
This variant is a VUS because it does not have enough information.
602708
chr3:191048109:CACACACAC>-
CCDC50
NM_198152:c.-665+94_-665+104delGTGTGTGTG
FIVE_PRIME_INTRON
Unknown significance
rs780734662
This variant is a VUS because it does not have enough information.
602709
chr3:191048111:C>-
CCDC50
NM_198152:c.-665+92delG
FIVE_PRIME_INTRON
Unknown significance
rs59801571
This variant is a VUS because it does not have enough information.
602710
chr3:191048111:CAC>-
CCDC50
NM_198152:c.-665+92_-665+96delGTG
FIVE_PRIME_INTRON
Unknown significance
rs764939843
This variant is a VUS because it does not have enough information.
602711
chr3:191048111:CACAC>-
CCDC50
NM_198152:c.-665+92_-665+98delGTGTG
FIVE_PRIME_INTRON
Unknown significance
rs780335687
This variant is a VUS because it does not have enough information.
602712
chr3:191048113:C>-
CCDC50
NM_198152:c.-665+90delG
FIVE_PRIME_INTRON
Unknown significance
rs61560434
This variant is a VUS because it does not have enough information.
602715
chr3:191048113:C>A
CCDC50
NM_198152:c.-665+90G>T
FIVE_PRIME_INTRON
Unknown significance
rs68137773
This variant is a VUS because it does not have enough information.
602713
chr3:191048113:CAC>-
CCDC50
NM_198152:c.-665+90_-665+94delGTG
FIVE_PRIME_INTRON
Unknown significance
rs758283664
This variant is a VUS because it does not have enough information.
602714
chr3:191048113:CACAC>-
CCDC50
NM_198152:c.-665+90_-665+96delGTGTG
FIVE_PRIME_INTRON
Unknown significance
rs774599127
This variant is a VUS because it does not have enough information.
602718
chr3:191048115:C>G
CCDC50
NM_198152:c.-665+88G>C
FIVE_PRIME_INTRON
Unknown significance
rs67197448
This variant is a VUS because it does not have enough information.
602716
chr3:191048116:->ACACAG
CCDC50
NM_198152:c.-665+87_-665+88insCTGTGT
FIVE_PRIME_INTRON
Unknown significance
rs550009593
This variant is a VUS because it does not have enough information.
602717
chr3:191048116:->AG
CCDC50
NM_198152:c.-665+87_-665+88insCT
FIVE_PRIME_INTRON
Unknown significance
rs58011669
This variant is a VUS because it does not have enough information.
602719
chr3:191048116:ACAA>-
CCDC50
NM_198152:c.-665+87_-665+92delTTGT
FIVE_PRIME_INTRON
Unknown significance
rs759489158
This variant is a VUS because it does not have enough information.
602720
chr3:191048118:A>-
CCDC50
NM_198152:c.-665+85delT
FIVE_PRIME_INTRON
Unknown significance
rs35117107
This variant is a VUS because it does not have enough information.
602721
chr3:191048119:->CACACACG
CCDC50
NM_198152:c.-665+84_-665+85insCGTGTGTG
FIVE_PRIME_INTRON
Unknown significance
rs60093642
This variant is a VUS because it does not have enough information.
602722
chr3:191048119:->CAGACC
CCDC50
NM_198152:c.-665+84_-665+85insGGTCTG
FIVE_PRIME_INTRON
Unknown significance
rs60093642
This variant is a VUS because it does not have enough information.
602723
chr3:191048127:C>T
CCDC50
NM_198152:c.-665+76G>A
FIVE_PRIME_INTRON
Unknown significance
rs541711928
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
602724
chr3:191048171:C>T
CCDC50
NM_198152:c.-665+32G>A
FIVE_PRIME_INTRON
Unknown significance
rs554588908
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
602725
chr3:191048206:G>A
CCDC50
NM_198152:c.-668C>T
FIVE_PRIME_EXON
Unknown significance
rs749345316
This variant is a VUS because it does not have enough information.
602726
chr3:191048278:T>C
CCDC50
NM_198152:c.-740A>G
FIVE_PRIME_EXON
Unknown significance
rs75814705
This variant is a VUS because it does not have enough information.
602727
chr3:191048297:A>G
CCDC50
NM_198152:c.-759T>C
FIVE_PRIME_EXON
Unknown significance
rs191469675
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
602728
chr3:191048312:T>G
CCDC50
NM_198152:c.-774A>C
FIVE_PRIME_EXON
Unknown significance
rs543544424
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
602729
chr3:191048356:A>G
CCDC50
NM_178335:c.49+844A>G
INTRON1
Unknown significance
rs563413765
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
602730
chr3:191048364:T>A
CCDC50
NM_178335:c.49+852T>A
INTRON1
Benign
rs9834749
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
526
1322
0.3979
74
1006
0.0736
104
694
0.1499
228
1008
0.2262
141
978
0.1442
1073
5008
0.214257
602731
chr3:191048388:A>T
CCDC50
NM_178335:c.49+876A>T
INTRON1
Unknown significance
rs748443137
This variant is a VUS because it does not have enough information.
602732
chr3:191048396:A>G
CCDC50
NM_178335:c.49+884A>G
INTRON1
Unknown significance
rs182969158
This variant is a VUS because it does not have enough information.
0
1322
0
2
1006
0.002
0
694
0
0
1008
0
0
978
0
2
5008
0.000399361
602733
chr3:191048409:A>T
CCDC50
NM_178335:c.49+897A>T
INTRON1
Unknown significance
rs141447260
This variant is a VUS because it does not have enough information.
0
1322
0
1
1006
0.001
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602734
chr3:191048437:A>G
CCDC50
NM_178335:c.49+925A>G
INTRON1
Unknown significance
rs758020359
This variant is a VUS because it does not have enough information.
602735
chr3:191048462:C>T
CCDC50
NM_178335:c.49+950C>T
INTRON1
Benign
rs10937477
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
988
1322
0.7474
277
1006
0.2753
325
694
0.4683
922
1008
0.9147
566
978
0.5787
3078
5008
0.614617
602736
chr3:191048463:G>A
CCDC50
NM_178335:c.49+951G>A
INTRON1
Unknown significance
rs548879094
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
602737
chr3:191048518:A>G
CCDC50
NM_178335:c.49+1006A>G
INTRON1
Unknown significance
rs771365626
This variant is a VUS because it does not have enough information.
602738
chr3:191048522:C>A
CCDC50
NM_178335:c.49+1010C>A
INTRON1
Benign
rs980320
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
73
1322
0.0552
258
1006
0.2565
167
694
0.2406
0
1008
0
131
978
0.1339
629
5008
0.125599
602739
chr3:191048530:A>G
CCDC50
NM_178335:c.49+1018A>G
INTRON1
Benign
rs186285246
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
11
1322
0.0083
2
1006
0.002
1
694
0.0014
0
1008
0
0
978
0
14
5008
0.00279553
602740
chr3:191048548:T>C
CCDC50
NM_178335:c.49+1036T>C
INTRON1
Unknown significance
rs759931669
This variant is a VUS because it does not have enough information.
602741
chr3:191048554:T>G
CCDC50
NM_178335:c.49+1042T>G
INTRON1
Benign
rs980321
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
44
1322
0.0333
257
1006
0.2555
166
694
0.2392
0
1008
0
131
978
0.1339
598
5008
0.119409
602742
chr3:191048557:T>A
CCDC50
NM_178335:c.49+1045T>A
INTRON1
Unknown significance
rs752188204
This variant is a VUS because it does not have enough information.
602743
chr3:191048558:C>T
CCDC50
NM_178335:c.49+1046C>T
INTRON1
Unknown significance
rs150825389
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
602744
chr3:191048610:A>C
CCDC50
NM_178335:c.49+1098A>C
INTRON1
Benign
rs3796222
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
128
1322
0.0968
75
1006
0.0746
78
694
0.1124
210
1008
0.2083
153
978
0.1564
644
5008
0.128594
602745
chr3:191048630:A>G
CCDC50
NM_178335:c.49+1118A>G
INTRON1
Unknown significance
rs763668599
This variant is a VUS because it does not have enough information.
602746
chr3:191048641:GTG>-
CCDC50
NM_178335:c.49+1129_49+1131delGTG
INTRON1
Unknown significance
rs535417555
This variant is a VUS because it does not have enough information.
1
1322
0.0008
2
1006
0.002
1
694
0.0014
0
1008
0
0
978
0
4
5008
0.000798722
602747
chr3:191048653:T>G
CCDC50
NM_178335:c.49+1141T>G
INTRON1
Unknown significance
rs114919878
This variant is a VUS because it does not have enough information.
0
1322
0
1
1006
0.001
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602748
chr3:191048655:T>C
CCDC50
NM_178335:c.49+1143T>C
INTRON1
Unknown significance
rs566544328
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
2
1008
0.002
0
978
0
2
5008
0.000399361
602749
chr3:191048663:A>C
CCDC50
NM_178335:c.49+1151A>C
INTRON1
Unknown significance
rs749768596
This variant is a VUS because it does not have enough information.
602750
chr3:191048736:A>C
CCDC50
NM_178335:c.49+1224A>C
INTRON1
Benign
rs3796221
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
129
1322
0.0976
76
1006
0.0755
110
694
0.1585
252
1008
0.25
155
978
0.1585
722
5008
0.144169
602751
chr3:191048754:G>A
CCDC50
NM_178335:c.49+1242G>A
INTRON1
Benign
rs139252046
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
16
1322
0.0121
2
1006
0.002
2
694
0.0029
0
1008
0
0
978
0
20
5008
0.00399361
602752
chr3:191048763:A>G
CCDC50
NM_178335:c.49+1251A>G
INTRON1
Benign
rs150071884
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
9
1322
0.0068
0
1006
0
0
694
0
0
1008
0
0
978
0
9
5008
0.00179712
602753
chr3:191048764:T>C
CCDC50
NM_178335:c.49+1252T>C
INTRON1
Unknown significance
rs774607611
This variant is a VUS because it does not have enough information.
602754
chr3:191048804:A>G
CCDC50
NM_178335:c.49+1292A>G
INTRON1
Unknown significance
rs543366469
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
2
978
0.002
2
5008
0.000399361
602755
chr3:191048806:T>C
CCDC50
NM_178335:c.49+1294T>C
INTRON1
Unknown significance
rs147740884
This variant is a VUS because it does not have enough information.
4
1322
0.003
0
1006
0
0
694
0
0
1008
0
0
978
0
4
5008
0.000798722
602756
chr3:191048830:G>A
CCDC50
NM_178335:c.49+1318G>A
INTRON1
Unknown significance
rs577309344
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602757
chr3:191048836:T>G
CCDC50
NM_178335:c.49+1324T>G
INTRON1
Unknown significance
rs189635895
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
2
1008
0.002
0
978
0
2
5008
0.000399361
602758
chr3:191048852:C>T
CCDC50
NM_178335:c.49+1340C>T
INTRON1
Benign
rs3796220
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
1018
1322
0.77
202
1006
0.2008
222
694
0.3199
670
1008
0.6647
411
978
0.4202
2523
5008
0.503794
602759
chr3:191048869:G>A
CCDC50
NM_178335:c.49+1357G>A
INTRON1
Benign
rs3796219
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
111
1322
0.084
79
1006
0.0785
48
694
0.0692
258
1008
0.256
85
978
0.0869
581
5008
0.116014
602760
chr3:191048932:G>C
CCDC50
NM_178335:c.49+1420G>C
INTRON1
Benign
rs2018996
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
201
1322
0.152
333
1006
0.331
245
694
0.353
210
1008
0.2083
284
978
0.2904
1273
5008
0.254193
602761
chr3:191048987:C>G
CCDC50
NM_178335:c.49+1475C>G
INTRON1
Unknown significance
rs542920522
This variant is a VUS because it does not have enough information.
602762
chr3:191049025:C>G
CCDC50
NM_178335:c.49+1513C>G
INTRON1
Unknown significance
rs779204155
This variant is a VUS because it does not have enough information.
602763
chr3:191049035:T>C
CCDC50
NM_178335:c.49+1523T>C
INTRON1
Unknown significance
rs140946910
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
602764
chr3:191049047:T>C
CCDC50
NM_178335:c.49+1535T>C
INTRON1
Unknown significance
rs530520064
This variant is a VUS because it does not have enough information.
0
1322
0
1
1006
0.001
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602765
chr3:191049049:T>C
CCDC50
NM_178335:c.49+1537T>C
INTRON1
Unknown significance
rs748175753
This variant is a VUS because it does not have enough information.
602766
chr3:191049079:C>A
CCDC50
NM_178335:c.49+1567C>A
INTRON1
Unknown significance
rs183410017
This variant is a VUS because it does not have enough information.
4
1322
0.003
0
1006
0
0
694
0
0
1008
0
0
978
0
4
5008
0.000798722
602767
chr3:191049113:C>T
CCDC50
NM_178335:c.49+1601C>T
INTRON1
Benign
rs144842284
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
0
694
0
5
1008
0.005
0
978
0
5
5008
0.000998403
602768
chr3:191049131:G>A
CCDC50
NM_178335:c.49+1619G>A
INTRON1
Unknown significance
rs533094504
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
602769
chr3:191049133:C>T
CCDC50
NM_178335:c.49+1621C>T
INTRON1
Unknown significance
rs546354667
This variant is a VUS because it does not have enough information.
0
1322
0
1
1006
0.001
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602770
chr3:191049152:A>C
CCDC50
NM_178335:c.49+1640A>C
INTRON1
Unknown significance
rs566692491
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
602771
chr3:191049152:A>G
CCDC50
NM_178335:c.49+1640A>G
INTRON1
Unknown significance
rs566692491
This variant is a VUS because it does not have enough information.
602772
chr3:191049168:C>G
CCDC50
NM_178335:c.49+1656C>G
INTRON1
Benign
rs77188303
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
69
1322
0.0522
1
1006
0.001
3
694
0.0043
0
1008
0
0
978
0
73
5008
0.0145767
602773
chr3:191049265:A>G
CCDC50
NM_178335:c.49+1753A>G
INTRON1
Unknown significance
rs760886834
This variant is a VUS because it does not have enough information.
602774
chr3:191049278:C>T
CCDC50
NM_178335:c.49+1766C>T
INTRON1
Unknown significance
rs771368435
This variant is a VUS because it does not have enough information.
602775
chr3:191049286:G>A
CCDC50
NM_178335:c.49+1774G>A
INTRON1
Unknown significance
rs560031616
This variant is a VUS because it does not have enough information.
602776
chr3:191049297:A>G
CCDC50
NM_178335:c.49+1785A>G
INTRON1
Unknown significance
rs199932604
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
2
1008
0.002
0
978
0
2
5008
0.000399361
602777
chr3:191049345:C>G
CCDC50
NM_178335:c.49+1833C>G
INTRON1
Unknown significance
rs764167725
This variant is a VUS because it does not have enough information.
602778
chr3:191049364:A>G
CCDC50
NM_178335:c.49+1852A>G
INTRON1
Unknown significance
rs568771913
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602779
chr3:191049373:T>-
CCDC50
NM_178335:c.49+1861delT
INTRON1
Unknown significance
rs528691578
This variant is a VUS because it does not have enough information.
602780
chr3:191049413:T>A
CCDC50
NM_178335:c.49+1901T>A
INTRON1
Benign
rs537741050
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
7
1322
0.0053
0
1006
0
0
694
0
0
1008
0
0
978
0
7
5008
0.00139776
602781
chr3:191049420:C>A
CCDC50
NM_178335:c.49+1908C>A
INTRON1
Unknown significance
rs557374096
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
602782
chr3:191049435:C>A
CCDC50
NM_178335:c.49+1923C>A
INTRON1
Unknown significance
rs577149775
This variant is a VUS because it does not have enough information.
4
1322
0.003
0
1006
0
0
694
0
0
1008
0
0
978
0
4
5008
0.000798722
602783
chr3:191049466:C>T
CCDC50
NM_178335:c.49+1954C>T
INTRON1
Unknown significance
rs57919967
This variant is a VUS because it does not have enough information.
602784
chr3:191049480:C>-
CCDC50
NM_178335:c.49+1968delC
INTRON1
Unknown significance
rs756923542
This variant is a VUS because it does not have enough information.
602785
chr3:191049516:A>G
CCDC50
NM_178335:c.49+2004A>G
INTRON1
Benign
rs74405890
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
29
1322
0.0219
0
1006
0
0
694
0
0
1008
0
0
978
0
29
5008
0.00579073
602786
chr3:191049528:G>A
CCDC50
NM_178335:c.49+2016G>A
INTRON1
Unknown significance
rs552041966
This variant is a VUS because it does not have enough information.
602787
chr3:191049542:A>G
CCDC50
NM_178335:c.49+2030A>G
INTRON1
Benign
rs147920200
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
7
1006
0.007
8
694
0.0115
0
1008
0
1
978
0.001
16
5008
0.00319489
602788
chr3:191049574:C>A
CCDC50
NM_178335:c.49+2062C>A
INTRON1
Unknown significance
rs535579982
This variant is a VUS because it does not have enough information.
602789
chr3:191049601:A>G
CCDC50
NM_178335:c.49+2089A>G
INTRON1
Unknown significance
rs770279923
This variant is a VUS because it does not have enough information.
602790
chr3:191049603:A>C
CCDC50
NM_178335:c.49+2091A>C
INTRON1
Unknown significance
rs187820974
This variant is a VUS because it does not have enough information.
0
1322
0
4
1006
0.004
3
694
0.0043
0
1008
0
2
978
0.002
9
5008
0.00179712
602791
chr3:191049621:G>C
CCDC50
NM_178335:c.49+2109G>C
INTRON1
Unknown significance
rs192386677
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
602792
chr3:191049629:A>G
CCDC50
NM_178335:c.49+2117A>G
INTRON1
Unknown significance
rs750298322
This variant is a VUS because it does not have enough information.
602793
chr3:191049673:A>G
CCDC50
NM_178335:c.49+2161A>G
INTRON1
Unknown significance
rs556871999
This variant is a VUS because it does not have enough information.
602794
chr3:191049677:C>-
CCDC50
NM_178335:c.49+2165delC
INTRON1
Unknown significance
rs749944841
This variant is a VUS because it does not have enough information.
602795
chr3:191049688:G>C
CCDC50
NM_178335:c.49+2176G>C
INTRON1
Unknown significance
rs562374104
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602796
chr3:191049692:A>T
CCDC50
NM_178335:c.49+2180A>T
INTRON1
Unknown significance
rs551075031
This variant is a VUS because it does not have enough information.
602797
chr3:191049693:G>A
CCDC50
NM_178335:c.49+2181G>A
INTRON1
Benign
rs575098118
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
0
694
0
0
1008
0
10
978
0.0102
10
5008
0.00199681
602798
chr3:191049719:A>T
CCDC50
NM_178335:c.49+2207A>T
INTRON1
Unknown significance
rs149062613
This variant is a VUS because it does not have enough information.
5
1322
0.0038
0
1006
0
2
694
0.0029
0
1008
0
0
978
0
7
5008
0.00139776
602799
chr3:191049748:A>T
CCDC50
NM_178335:c.49+2236A>T
INTRON1
Unknown significance
rs79911884
This variant is a VUS because it does not have enough information.
602800
chr3:191049797:T>C
CCDC50
NM_178335:c.49+2285T>C
INTRON1
Unknown significance
rs758270363
This variant is a VUS because it does not have enough information.
602801
chr3:191049798:A>G
CCDC50
NM_178335:c.49+2286A>G
INTRON1
Benign
rs143055806
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
7
1322
0.0053
0
1006
0
0
694
0
0
1008
0
0
978
0
7
5008
0.00139776
602802
chr3:191049823:T>-
CCDC50
NM_178335:c.49+2311delT
INTRON1
Unknown significance
rs567517634
This variant is a VUS because it does not have enough information.
602803
chr3:191049827:G>A
CCDC50
NM_178335:c.49+2315G>A
INTRON1
Unknown significance
rs532773861
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
602804
chr3:191049832:A>G
CCDC50
NM_178335:c.49+2320A>G
INTRON1
Unknown significance
rs796977489
This variant is a VUS because it does not have enough information.
602805
chr3:191049864:T>C
CCDC50
NM_178335:c.49+2352T>C
INTRON1
Unknown significance
rs763754430
This variant is a VUS because it does not have enough information.
602806
chr3:191049876:T>C
CCDC50
NM_178335:c.49+2364T>C
INTRON1
Unknown significance
rs751179923
This variant is a VUS because it does not have enough information.
602807
chr3:191049880:T>A
CCDC50
NM_178335:c.49+2368T>A
INTRON1
Unknown significance
rs779988601
This variant is a VUS because it does not have enough information.
602808
chr3:191049885:G>A
CCDC50
NM_178335:c.49+2373G>A
INTRON1
Unknown significance
rs544480291
This variant is a VUS because it does not have enough information.
602809
chr3:191049905:G>C
CCDC50
NM_178335:c.49+2393G>C
INTRON1
Unknown significance
rs371849000
This variant is a VUS because it does not have enough information.
602810
chr3:191049908:G>A
CCDC50
NM_178335:c.49+2396G>A
INTRON1
Unknown significance
rs376857688
This variant is a VUS because it does not have enough information.
602811
chr3:191049915:C>T
CCDC50
NM_178335:c.49+2403C>T
INTRON1
Unknown significance
rs151156122
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
1
694
0.0014
0
1008
0
0
978
0
1
5008
0.000199681
602812
chr3:191049928:T>C
CCDC50
NM_178335:c.49+2416T>C
INTRON1
Unknown significance
rs530142416
This variant is a VUS because it does not have enough information.
602813
chr3:191049944:C>A
CCDC50
NM_178335:c.49+2432C>A
INTRON1
Benign
rs140086163
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
12
1322
0.0091
1
1006
0.001
1
694
0.0014
0
1008
0
0
978
0
14
5008
0.00279553
602814
chr3:191049951:G>-
CCDC50
NM_178335:c.49+2439delG
INTRON1
Benign
rs546556805
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
7
1006
0.007
2
694
0.0029
0
1008
0
1
978
0.001
10
5008
0.00199681
602815
chr3:191049969:AC>-
CCDC50
NM_178335:c.49+2457_49+2458delAC
INTRON1
Unknown significance
rs749733130
This variant is a VUS because it does not have enough information.
602816
chr3:191049998:T>C
CCDC50
NM_178335:c.49+2486T>C
INTRON1
Unknown significance
rs529062962
This variant is a VUS because it does not have enough information.
0
1322
0
1
1006
0.001
1
694
0.0014
0
1008
0
0
978
0
2
5008
0.000399361
602817
chr3:191050015:A>G
CCDC50
NM_178335:c.49+2503A>G
INTRON1
Unknown significance
rs145599324
This variant is a VUS because it does not have enough information.
0
1322
0
3
1006
0.003
0
694
0
0
1008
0
1
978
0.001
4
5008
0.000798722
602818
chr3:191050049:C>A
CCDC50
NM_178335:c.49+2537C>A
INTRON1
Unknown significance
rs138109587
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602819
chr3:191050060:A>G
CCDC50
NM_178335:c.49+2548A>G
INTRON1
Unknown significance
rs182896554
This variant is a VUS because it does not have enough information.
0
1322
0
2
1006
0.002
3
694
0.0043
0
1008
0
0
978
0
5
5008
0.000998403
602820
chr3:191050069:A>G
CCDC50
NM_178335:c.49+2557A>G
INTRON1
Unknown significance
rs369474582
This variant is a VUS because it does not have enough information.
602821
chr3:191050075:C>T
CCDC50
NM_178335:c.49+2563C>T
INTRON1
Unknown significance
rs551372163
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602822
chr3:191050130:C>A
CCDC50
NM_178335:c.49+2618C>A
INTRON1
Unknown significance
rs766364715
This variant is a VUS because it does not have enough information.
602823
chr3:191050134:T>C
CCDC50
NM_178335:c.49+2622T>C
INTRON1
Unknown significance
rs570842870
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
2
694
0.0029
0
1008
0
0
978
0
2
5008
0.000399361
602824
chr3:191050138:C>G
CCDC50
NM_178335:c.49+2626C>G
INTRON1
Unknown significance
rs538443098
This variant is a VUS because it does not have enough information.
602825
chr3:191050169:A>G
CCDC50
NM_178335:c.49+2657A>G
INTRON1
Benign
rs188339961
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
15
1322
0.0113
0
1006
0
0
694
0
0
1008
0
0
978
0
15
5008
0.00299521
602826
chr3:191050182:G>C
CCDC50
NM_178335:c.49+2670G>C
INTRON1
Unknown significance
rs754618950
This variant is a VUS because it does not have enough information.
602827
chr3:191050185:T>G
CCDC50
NM_178335:c.49+2673T>G
INTRON1
Benign
rs73201627
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
113
1322
0.0855
79
1006
0.0785
48
694
0.0692
258
1008
0.256
85
978
0.0869
583
5008
0.116414
602828
chr3:191050208:A>T
CCDC50
NM_178335:c.49+2696A>T
INTRON1
Benign
rs377128458
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
0
694
0
5
1008
0.005
0
978
0
5
5008
0.000998403
602829
chr3:191050249:A>G
CCDC50
NM_178335:c.49+2737A>G
INTRON1
Unknown significance
rs796713058
This variant is a VUS because it does not have enough information.
602830
chr3:191050278:A>G
CCDC50
NM_178335:c.49+2766A>G
INTRON1
Unknown significance
rs142637759
This variant is a VUS because it does not have enough information.
1
1322
0.0008
0
1006
0
0
694
0
0
1008
0
0
978
0
1
5008
0.000199681
602831
chr3:191050318:G>A
CCDC50
NM_178335:c.49+2806G>A
INTRON1
Unknown significance
rs370444340
This variant is a VUS because it does not have enough information.
602832
chr3:191050346:A>G
CCDC50
NM_178335:c.49+2834A>G
INTRON1
Unknown significance
rs777970350
This variant is a VUS because it does not have enough information.
602833
chr3:191050355:T>G
CCDC50
NM_178335:c.49+2843T>G
INTRON1
Unknown significance
rs556041028
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
2
978
0.002
2
5008
0.000399361
602834
chr3:191050358:A>G
CCDC50
NM_178335:c.49+2846A>G
INTRON1
Unknown significance
rs575884553
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
2
978
0.002
2
5008
0.000399361
602835
chr3:191050369:A>G
CCDC50
NM_178335:c.49+2857A>G
INTRON1
Unknown significance
rs144793948
This variant is a VUS because it does not have enough information.
4
1322
0.003
0
1006
0
0
694
0
0
1008
0
0
978
0
4
5008
0.000798722
602836
chr3:191050392:G>A
CCDC50
NM_178335:c.49+2880G>A
INTRON1
Unknown significance
rs564590022
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
0
1008
0
1
978
0.001
1
5008
0.000199681
602837
chr3:191050402:G>C
CCDC50
NM_178335:c.49+2890G>C
INTRON1
Benign
rs193003703
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
2
1322
0.0015
7
1006
0.007
3
694
0.0043
0
1008
0
1
978
0.001
13
5008
0.00259585
602838
chr3:191050536:T>C
CCDC50
NM_178335:c.49+3024T>C
INTRON1
Unknown significance
rs757409025
This variant is a VUS because it does not have enough information.
602839
chr3:191050551:C>G
CCDC50
NM_178335:c.49+3039C>G
INTRON1
Unknown significance
rs184654352
This variant is a VUS because it does not have enough information.
0
1322
0
4
1006
0.004
0
694
0
0
1008
0
0
978
0
4
5008
0.000798722
602840
chr3:191050558:A>G
CCDC50
NM_178335:c.49+3046A>G
INTRON1
Unknown significance
rs746150174
This variant is a VUS because it does not have enough information.
602841
chr3:191050573:C>T
CCDC50
NM_178335:c.49+3061C>T
INTRON1
Unknown significance
rs113125582
This variant is a VUS because it does not have enough information.
602842
chr3:191050599:T>C
CCDC50
NM_178335:c.49+3087T>C
INTRON1
Benign
rs79001780
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
71
1322
0.0537
1
1006
0.001
5
694
0.0072
0
1008
0
0
978
0
77
5008
0.0153754
602843
chr3:191050605:G>A
CCDC50
NM_178335:c.49+3093G>A
INTRON1
Benign
rs9826141
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
73
1322
0.0552
258
1006
0.2565
167
694
0.2406
0
1008
0
131
978
0.1339
629
5008
0.125599
602844
chr3:191050642:T>G
CCDC50
NM_178335:c.49+3130T>G
INTRON1
Unknown significance
rs574326734
This variant is a VUS because it does not have enough information.
602845
chr3:191050651:C>T
CCDC50
NM_178335:c.49+3139C>T
INTRON1
Benign
rs113774279
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
9
1006
0.0089
1
694
0.0014
0
1008
0
1
978
0.001
11
5008
0.00219649
602846
chr3:191050681:G>T
CCDC50
NM_178335:c.49+3169G>T
INTRON1
Unknown significance
rs374060721
This variant is a VUS because it does not have enough information.
602847
chr3:191050692:G>A
CCDC50
NM_178335:c.49+3180G>A
INTRON1
Benign
rs74717473
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
0
1322
0
0
1006
0
0
694
0
73
1008
0.0724
33
978
0.0337
106
5008
0.0211661
602848
chr3:191050704:T>C
CCDC50
NM_178335:c.49+3192T>C
INTRON1
Unknown significance
rs775769915
This variant is a VUS because it does not have enough information.
602849
chr3:191050771:C>T
CCDC50
NM_178335:c.49+3259C>T
INTRON1
Benign
rs138559627
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
2
1322
0.0015
9
1006
0.0089
5
694
0.0072
0
1008
0
33
978
0.0337
49
5008
0.00978435
602850
chr3:191050774:A>G
CCDC50
NM_178335:c.49+3262A>G
INTRON1
Unknown significance
rs551678190
This variant is a VUS because it does not have enough information.
2
1322
0.0015
0
1006
0
0
694
0
0
1008
0
0
978
0
2
5008
0.000399361
602851
chr3:191050824:C>T
CCDC50
NM_178335:c.49+3312C>T
INTRON1
Unknown significance
rs149389537
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
602852
chr3:191050826:A>G
CCDC50
NM_178335:c.49+3314A>G
INTRON1
Unknown significance
rs533368585
This variant is a VUS because it does not have enough information.
0
1322
0
0
1006
0
0
694
0
1
1008
0.001
0
978
0
1
5008
0.000199681
602853
chr3:191050871:C>G
CCDC50
NM_178335:c.49+3359C>G
INTRON1
Benign
rs73201628
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
113
1322
0.0855
76
1006
0.0755
47
694
0.0677
259
1008
0.2569
85
978
0.0869
580
5008
0.115815
602854
chr3:191050875:T>-
CCDC50
NM_178335:c.49+3363delT
INTRON1
Benign
rs542600883
This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005.
7
1322
0.0053
0
1006
0
0
694
0
0
1008
0
0
978
0
7
5008
0.00139776
602855
chr3:191050901:G>C
CCDC50
NM_178335:c.49+3389G>C
INTRON1
Unknown significance
rs776605998
This variant is a VUS because it does not have enough information.
602856
chr3:191050904:T>C
CCDC50
NM_178335:c.49+3392T>C
INTRON1
Unknown significance
rs761995137
This variant is a VUS because it does not have enough information.
602857
chr3:191050910:T>A
CCDC50
NM_178335:c.49+3398T>A
INTRON1
Unknown significance
rs773077453
This variant is a VUS because it does not have enough information.
602858
chr3:191050919:G>A
CCDC50
NM_178335:c.49+3407G>A
INTRON1
Unknown significance
rs760501515
This variant is a VUS because it does not have enough information.