Unnamed: 0.1
int64 0
1.63k
| Unnamed: 0
int64 0
1.63k
| #AlleleID
int64 27.4k
3.4M
| Name
stringlengths 25
43
| GeneSymbol
stringclasses 1
value | Chromosome
int64 17
17
| Start
int64 7.67M
7.69M
| Stop
int64 7.67M
7.69M
| ClinicalSignificance
stringclasses 8
values | ReferenceAlleleVCF
stringclasses 4
values | AlternateAlleleVCF
stringclasses 4
values | IsPathogenic
bool 2
classes | Strand
stringclasses 1
value | NewIndex
int64 99
19.6k
|
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
852
| 852
| 506,197
|
NM_000546.6(TP53):c.450A>C (p.Thr150=)
|
TP53
| 17
| 7,675,162
| 7,675,162
|
Likely benign
|
T
|
G
| false
|
reverse
| 12,328
|
19
| 19
| 27,408
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
TP53
| 17
| 7,675,161
| 7,675,161
|
Pathogenic/Likely pathogenic
|
G
|
T
| true
|
reverse
| 12,329
|
20
| 20
| 27,409
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
TP53
| 17
| 7,675,161
| 7,675,161
|
Pathogenic/Likely pathogenic
|
G
|
A
| true
|
reverse
| 12,329
|
466
| 466
| 363,520
|
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)
|
TP53
| 17
| 7,675,161
| 7,675,161
|
Pathogenic
|
G
|
C
| true
|
reverse
| 12,329
|
465
| 465
| 363,519
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
TP53
| 17
| 7,675,160
| 7,675,160
|
Pathogenic/Likely pathogenic
|
G
|
C
| true
|
reverse
| 12,330
|
1,580
| 1,580
| 2,972,903
|
NM_000546.6(TP53):c.453C>G (p.Pro151=)
|
TP53
| 17
| 7,675,159
| 7,675,159
|
Likely benign
|
G
|
C
| false
|
reverse
| 12,331
|
1,243
| 1,243
| 1,147,706
|
NM_000546.6(TP53):c.453C>T (p.Pro151=)
|
TP53
| 17
| 7,675,159
| 7,675,159
|
Likely benign
|
G
|
A
| false
|
reverse
| 12,331
|
134
| 134
| 152,480
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
TP53
| 17
| 7,675,157
| 7,675,157
|
Pathogenic
|
G
|
A
| true
|
reverse
| 12,333
|
1,084
| 1,084
| 814,494
|
NM_000546.6(TP53):c.455C>G (p.Pro152Arg)
|
TP53
| 17
| 7,675,157
| 7,675,157
|
Pathogenic/Likely pathogenic
|
G
|
C
| true
|
reverse
| 12,333
|
1,083
| 1,083
| 814,493
|
NM_000546.6(TP53):c.456G>C (p.Pro152=)
|
TP53
| 17
| 7,675,156
| 7,675,156
|
Likely benign
|
C
|
G
| false
|
reverse
| 12,334
|
325
| 325
| 236,491
|
NM_000546.6(TP53):c.456G>A (p.Pro152=)
|
TP53
| 17
| 7,675,156
| 7,675,156
|
Likely benign
|
C
|
T
| false
|
reverse
| 12,334
|
1,391
| 1,391
| 1,805,001
|
NM_000546.6(TP53):c.456G>T (p.Pro152=)
|
TP53
| 17
| 7,675,156
| 7,675,156
|
Likely benign
|
C
|
A
| false
|
reverse
| 12,334
|
324
| 324
| 236,490
|
NM_000546.6(TP53):c.459C>T (p.Pro153=)
|
TP53
| 17
| 7,675,153
| 7,675,153
|
Benign/Likely benign
|
G
|
A
| false
|
reverse
| 12,337
|
71
| 71
| 137,024
|
NM_000546.6(TP53):c.462C>T (p.Gly154=)
|
TP53
| 17
| 7,675,150
| 7,675,150
|
Likely benign
|
G
|
A
| false
|
reverse
| 12,340
|
1,242
| 1,242
| 1,147,705
|
NM_000546.6(TP53):c.465C>T (p.Thr155=)
|
TP53
| 17
| 7,675,147
| 7,675,147
|
Likely benign
|
G
|
A
| false
|
reverse
| 12,343
|
214
| 214
| 185,379
|
NM_000546.6(TP53):c.465C>A (p.Thr155=)
|
TP53
| 17
| 7,675,147
| 7,675,147
|
Likely benign
|
G
|
T
| false
|
reverse
| 12,343
|
213
| 213
| 185,378
|
NM_000546.6(TP53):c.468C>T (p.Arg156=)
|
TP53
| 17
| 7,675,144
| 7,675,144
|
Benign/Likely benign
|
G
|
A
| false
|
reverse
| 12,346
|
212
| 212
| 185,377
|
NM_000546.6(TP53):c.469G>A (p.Val157Ile)
|
TP53
| 17
| 7,675,143
| 7,675,143
|
Likely benign
|
C
|
T
| false
|
reverse
| 12,347
|
523
| 523
| 375,730
|
NM_000546.6(TP53):c.471C>A (p.Val157=)
|
TP53
| 17
| 7,675,141
| 7,675,141
|
Likely benign
|
G
|
T
| false
|
reverse
| 12,349
|
1,108
| 1,108
| 846,283
|
NM_000546.6(TP53):c.472C>G (p.Arg158Gly)
|
TP53
| 17
| 7,675,140
| 7,675,140
|
Pathogenic
|
G
|
C
| true
|
reverse
| 12,350
|
1,199
| 1,199
| 1,056,473
|
NM_000546.6(TP53):c.472C>A (p.Arg158Ser)
|
TP53
| 17
| 7,675,140
| 7,675,140
|
Pathogenic
|
G
|
T
| true
|
reverse
| 12,350
|
871
| 871
| 531,819
|
NM_000546.6(TP53):c.473G>T (p.Arg158Leu)
|
TP53
| 17
| 7,675,139
| 7,675,139
|
Pathogenic/Likely pathogenic
|
C
|
A
| true
|
reverse
| 12,351
|
368
| 368
| 245,076
|
NM_000546.6(TP53):c.473G>C (p.Arg158Pro)
|
TP53
| 17
| 7,675,139
| 7,675,139
|
Likely pathogenic
|
C
|
G
| true
|
reverse
| 12,351
|
110
| 110
| 151,677
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
TP53
| 17
| 7,675,139
| 7,675,139
|
Pathogenic/Likely pathogenic
|
C
|
T
| true
|
reverse
| 12,351
|
1,327
| 1,327
| 1,554,697
|
NM_000546.6(TP53):c.474C>A (p.Arg158=)
|
TP53
| 17
| 7,675,138
| 7,675,138
|
Likely benign
|
G
|
T
| false
|
reverse
| 12,352
|
211
| 211
| 185,376
|
NM_000546.6(TP53):c.474C>T (p.Arg158=)
|
TP53
| 17
| 7,675,138
| 7,675,138
|
Benign/Likely benign
|
G
|
A
| false
|
reverse
| 12,352
|
659
| 659
| 467,544
|
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
|
TP53
| 17
| 7,675,136
| 7,675,136
|
Pathogenic/Likely pathogenic
|
G
|
A
| true
|
reverse
| 12,354
|
1,194
| 1,194
| 1,013,159
|
NM_000546.6(TP53):c.476C>A (p.Ala159Asp)
|
TP53
| 17
| 7,675,136
| 7,675,136
|
Pathogenic/Likely pathogenic
|
G
|
T
| true
|
reverse
| 12,354
|
522
| 522
| 375,728
|
NM_000546.6(TP53):c.477C>T (p.Ala159=)
|
TP53
| 17
| 7,675,135
| 7,675,135
|
Likely benign
|
G
|
A
| false
|
reverse
| 12,355
|
323
| 323
| 236,488
|
NM_000546.6(TP53):c.480G>A (p.Met160Ile)
|
TP53
| 17
| 7,675,132
| 7,675,132
|
Likely benign
|
C
|
T
| false
|
reverse
| 12,358
|
143
| 143
| 171,616
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
TP53
| 17
| 7,675,131
| 7,675,131
|
Pathogenic/Likely pathogenic
|
C
|
T
| true
|
reverse
| 12,359
|
521
| 521
| 375,726
|
NM_000546.6(TP53):c.483C>A (p.Ala161=)
|
TP53
| 17
| 7,675,129
| 7,675,129
|
Likely benign
|
G
|
T
| false
|
reverse
| 12,361
|
1,593
| 1,593
| 3,006,889
|
NM_000546.6(TP53):c.483C>T (p.Ala161=)
|
TP53
| 17
| 7,675,129
| 7,675,129
|
Likely benign
|
G
|
A
| false
|
reverse
| 12,361
|
52
| 52
| 133,271
|
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys)
|
TP53
| 17
| 7,675,124
| 7,675,124
|
Pathogenic
|
T
|
C
| true
|
reverse
| 12,366
|
911
| 911
| 611,260
|
NM_000546.6(TP53):c.489C>G (p.Tyr163Ter)
|
TP53
| 17
| 7,675,123
| 7,675,123
|
Pathogenic
|
G
|
C
| true
|
reverse
| 12,367
|
1,288
| 1,288
| 1,337,452
|
NM_000546.6(TP53):c.489C>A (p.Tyr163Ter)
|
TP53
| 17
| 7,675,123
| 7,675,123
|
Pathogenic
|
G
|
T
| true
|
reverse
| 12,367
|
1,174
| 1,174
| 938,237
|
NM_000546.6(TP53):c.490A>T (p.Lys164Ter)
|
TP53
| 17
| 7,675,122
| 7,675,122
|
Pathogenic
|
T
|
A
| true
|
reverse
| 12,368
|
729
| 729
| 479,347
|
NM_000546.6(TP53):c.492G>A (p.Lys164=)
|
TP53
| 17
| 7,675,120
| 7,675,120
|
Likely benign
|
C
|
T
| false
|
reverse
| 12,370
|
164
| 164
| 181,011
|
NM_000546.6(TP53):c.493C>T (p.Gln165Ter)
|
TP53
| 17
| 7,675,119
| 7,675,119
|
Pathogenic
|
G
|
A
| true
|
reverse
| 12,371
|
1,528
| 1,528
| 2,670,460
|
NM_000546.6(TP53):c.494A>T (p.Gln165Leu)
|
TP53
| 17
| 7,675,118
| 7,675,118
|
Pathogenic
|
T
|
A
| true
|
reverse
| 12,372
|
967
| 967
| 622,618
|
NM_000546.6(TP53):c.497C>G (p.Ser166Ter)
|
TP53
| 17
| 7,675,115
| 7,675,115
|
Pathogenic
|
G
|
C
| true
|
reverse
| 12,375
|
801
| 801
| 485,326
|
NM_000546.6(TP53):c.498A>G (p.Ser166=)
|
TP53
| 17
| 7,675,114
| 7,675,114
|
Likely benign
|
T
|
C
| false
|
reverse
| 12,376
|
870
| 870
| 531,807
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
TP53
| 17
| 7,675,113
| 7,675,113
|
Pathogenic/Likely pathogenic
|
G
|
A
| true
|
reverse
| 12,377
|
1,397
| 1,397
| 1,809,598
|
NM_000546.6(TP53):c.501G>A (p.Gln167=)
|
TP53
| 17
| 7,675,111
| 7,675,111
|
Likely benign
|
C
|
T
| false
|
reverse
| 12,379
|
1,392
| 1,392
| 1,805,779
|
NM_000546.6(TP53):c.503A>T (p.His168Leu)
|
TP53
| 17
| 7,675,109
| 7,675,109
|
Pathogenic
|
T
|
A
| true
|
reverse
| 12,381
|
281
| 281
| 222,741
|
NM_000546.6(TP53):c.504C>T (p.His168=)
|
TP53
| 17
| 7,675,108
| 7,675,108
|
Likely benign
|
G
|
A
| false
|
reverse
| 12,382
|
209
| 209
| 185,374
|
NM_000546.6(TP53):c.509C>T (p.Thr170Met)
|
TP53
| 17
| 7,675,103
| 7,675,103
|
Likely benign
|
G
|
A
| false
|
reverse
| 12,387
|
1,082
| 1,082
| 814,490
|
NM_000546.6(TP53):c.510G>T (p.Thr170=)
|
TP53
| 17
| 7,675,102
| 7,675,102
|
Likely benign
|
C
|
A
| false
|
reverse
| 12,388
|
1,384
| 1,384
| 1,802,454
|
NM_000546.6(TP53):c.510G>C (p.Thr170=)
|
TP53
| 17
| 7,675,102
| 7,675,102
|
Likely benign
|
C
|
G
| false
|
reverse
| 12,388
|
208
| 208
| 185,373
|
NM_000546.6(TP53):c.510G>A (p.Thr170=)
|
TP53
| 17
| 7,675,102
| 7,675,102
|
Benign/Likely benign
|
C
|
T
| false
|
reverse
| 12,388
|
966
| 966
| 622,617
|
NM_000546.6(TP53):c.511G>T (p.Glu171Ter)
|
TP53
| 17
| 7,675,101
| 7,675,101
|
Pathogenic
|
C
|
A
| true
|
reverse
| 12,389
|
1,385
| 1,385
| 1,802,577
|
NM_000546.6(TP53):c.512A>G (p.Glu171Gly)
|
TP53
| 17
| 7,675,100
| 7,675,100
|
Pathogenic
|
T
|
C
| true
|
reverse
| 12,390
|
721
| 721
| 479,323
|
NM_000546.6(TP53):c.513G>A (p.Glu171=)
|
TP53
| 17
| 7,675,099
| 7,675,099
|
Likely benign
|
C
|
T
| false
|
reverse
| 12,391
|
1,515
| 1,515
| 2,422,010
|
NM_000546.6(TP53):c.513G>T (p.Glu171Asp)
|
TP53
| 17
| 7,675,099
| 7,675,099
|
Pathogenic
|
C
|
A
| true
|
reverse
| 12,391
|
1,317
| 1,317
| 1,527,707
|
NM_000546.6(TP53):c.516T>C (p.Val172=)
|
TP53
| 17
| 7,675,096
| 7,675,096
|
Likely benign
|
A
|
G
| false
|
reverse
| 12,394
|
490
| 490
| 363,547
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
TP53
| 17
| 7,675,095
| 7,675,095
|
Pathogenic/Likely pathogenic
|
C
|
A
| true
|
reverse
| 12,395
|
287
| 287
| 232,035
|
NM_000546.6(TP53):c.517G>A (p.Val173Met)
|
TP53
| 17
| 7,675,095
| 7,675,095
|
Pathogenic
|
C
|
T
| true
|
reverse
| 12,395
|
396
| 396
| 362,896
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
TP53
| 17
| 7,675,094
| 7,675,094
|
Pathogenic/Likely pathogenic
|
A
|
G
| true
|
reverse
| 12,396
|
1,344
| 1,344
| 1,605,261
|
NM_000546.6(TP53):c.519G>C (p.Val173=)
|
TP53
| 17
| 7,675,093
| 7,675,093
|
Likely benign
|
C
|
G
| false
|
reverse
| 12,397
|
1,383
| 1,383
| 1,799,592
|
NM_000546.6(TP53):c.519G>T (p.Val173=)
|
TP53
| 17
| 7,675,093
| 7,675,093
|
Likely benign
|
C
|
A
| false
|
reverse
| 12,397
|
857
| 857
| 506,749
|
NM_000546.6(TP53):c.519G>A (p.Val173=)
|
TP53
| 17
| 7,675,093
| 7,675,093
|
Likely benign
|
C
|
T
| false
|
reverse
| 12,397
|
615
| 615
| 410,272
|
NM_000546.6(TP53):c.521G>A (p.Arg174Lys)
|
TP53
| 17
| 7,675,091
| 7,675,091
|
Likely benign
|
C
|
T
| false
|
reverse
| 12,399
|
472
| 472
| 363,528
|
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)
|
TP53
| 17
| 7,675,089
| 7,675,089
|
Pathogenic/Likely pathogenic
|
G
|
C
| true
|
reverse
| 12,401
|
163
| 163
| 181,010
|
NM_000546.6(TP53):c.524G>T (p.Arg175Leu)
|
TP53
| 17
| 7,675,088
| 7,675,088
|
Pathogenic/Likely pathogenic
|
C
|
A
| true
|
reverse
| 12,402
|
23
| 23
| 27,413
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
TP53
| 17
| 7,675,088
| 7,675,088
|
Pathogenic
|
C
|
T
| true
|
reverse
| 12,402
|
1,341
| 1,341
| 1,603,133
|
NM_000546.6(TP53):c.525C>T (p.Arg175=)
|
TP53
| 17
| 7,675,087
| 7,675,087
|
Likely benign
|
G
|
A
| false
|
reverse
| 12,403
|
406
| 406
| 363,448
|
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)
|
TP53
| 17
| 7,675,085
| 7,675,085
|
Pathogenic/Likely pathogenic
|
C
|
A
| true
|
reverse
| 12,405
|
207
| 207
| 185,371
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
TP53
| 17
| 7,675,085
| 7,675,085
|
Pathogenic
|
C
|
T
| true
|
reverse
| 12,405
|
1,393
| 1,393
| 1,806,154
|
NM_000546.6(TP53):c.528C>A (p.Cys176Ter)
|
TP53
| 17
| 7,675,084
| 7,675,084
|
Pathogenic
|
G
|
T
| true
|
reverse
| 12,406
|
669
| 669
| 468,390
|
NM_000546.6(TP53):c.530C>G (p.Pro177Arg)
|
TP53
| 17
| 7,675,082
| 7,675,082
|
Pathogenic/Likely pathogenic
|
G
|
C
| true
|
reverse
| 12,408
|
1,081
| 1,081
| 814,488
|
NM_000546.6(TP53):c.531C>G (p.Pro177=)
|
TP53
| 17
| 7,675,081
| 7,675,081
|
Likely benign
|
G
|
C
| false
|
reverse
| 12,409
|
1,491
| 1,491
| 2,083,260
|
NM_000546.6(TP53):c.531C>A (p.Pro177=)
|
TP53
| 17
| 7,675,081
| 7,675,081
|
Likely benign
|
G
|
T
| false
|
reverse
| 12,409
|
1,253
| 1,253
| 1,161,408
|
NM_000546.6(TP53):c.531C>T (p.Pro177=)
|
TP53
| 17
| 7,675,081
| 7,675,081
|
Likely benign
|
G
|
A
| false
|
reverse
| 12,409
|
756
| 756
| 480,057
|
NM_000546.6(TP53):c.532C>G (p.His178Asp)
|
TP53
| 17
| 7,675,080
| 7,675,080
|
Likely pathogenic
|
G
|
C
| true
|
reverse
| 12,410
|
893
| 893
| 569,777
|
NM_000546.6(TP53):c.534C>A (p.His178Gln)
|
TP53
| 17
| 7,675,078
| 7,675,078
|
Pathogenic/Likely pathogenic
|
G
|
T
| true
|
reverse
| 12,412
|
1,170
| 1,170
| 928,554
|
NM_000546.6(TP53):c.534C>G (p.His178Gln)
|
TP53
| 17
| 7,675,078
| 7,675,078
|
Pathogenic/Likely pathogenic
|
G
|
C
| true
|
reverse
| 12,412
|
755
| 755
| 480,055
|
NM_000546.6(TP53):c.534C>T (p.His178=)
|
TP53
| 17
| 7,675,078
| 7,675,078
|
Likely benign
|
G
|
A
| false
|
reverse
| 12,412
|
53
| 53
| 133,272
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
TP53
| 17
| 7,675,077
| 7,675,077
|
Pathogenic/Likely pathogenic
|
G
|
A
| true
|
reverse
| 12,413
|
573
| 573
| 402,563
|
NM_000546.6(TP53):c.537T>A (p.His179Gln)
|
TP53
| 17
| 7,675,075
| 7,675,075
|
Pathogenic
|
A
|
T
| true
|
reverse
| 12,415
|
440
| 440
| 363,486
|
NM_000546.6(TP53):c.537T>G (p.His179Gln)
|
TP53
| 17
| 7,675,075
| 7,675,075
|
Pathogenic/Likely pathogenic
|
A
|
C
| true
|
reverse
| 12,415
|
322
| 322
| 236,487
|
NM_000546.6(TP53):c.537T>C (p.His179=)
|
TP53
| 17
| 7,675,075
| 7,675,075
|
Likely benign
|
A
|
G
| false
|
reverse
| 12,415
|
965
| 965
| 622,615
|
NM_000546.6(TP53):c.538G>T (p.Glu180Ter)
|
TP53
| 17
| 7,675,074
| 7,675,074
|
Pathogenic
|
C
|
A
| true
|
reverse
| 12,416
|
366
| 366
| 245,073
|
NM_000546.6(TP53):c.538G>A (p.Glu180Lys)
|
TP53
| 17
| 7,675,074
| 7,675,074
|
Likely pathogenic
|
C
|
T
| true
|
reverse
| 12,416
|
1,582
| 1,582
| 2,978,652
|
NM_000546.6(TP53):c.540G>A (p.Glu180=)
|
TP53
| 17
| 7,675,072
| 7,675,072
|
Likely benign
|
C
|
T
| false
|
reverse
| 12,418
|
1,080
| 1,080
| 814,487
|
NM_000546.6(TP53):c.542G>C (p.Arg181Pro)
|
TP53
| 17
| 7,675,070
| 7,675,070
|
Pathogenic/Likely pathogenic
|
C
|
G
| true
|
reverse
| 12,420
|
321
| 321
| 236,485
|
NM_000546.6(TP53):c.543C>T (p.Arg181=)
|
TP53
| 17
| 7,675,069
| 7,675,069
|
Likely benign
|
G
|
A
| false
|
reverse
| 12,421
|
964
| 964
| 622,612
|
NM_000546.6(TP53):c.548C>G (p.Ser183Ter)
|
TP53
| 17
| 7,675,064
| 7,675,064
|
Pathogenic
|
G
|
C
| true
|
reverse
| 12,426
|
1,527
| 1,527
| 2,668,013
|
NM_000546.6(TP53):c.549A>T (p.Ser183=)
|
TP53
| 17
| 7,675,063
| 7,675,063
|
Pathogenic
|
T
|
A
| true
|
reverse
| 12,427
|
1,319
| 1,319
| 1,531,726
|
NM_000546.6(TP53):c.549A>C (p.Ser183=)
|
TP53
| 17
| 7,675,063
| 7,675,063
|
Likely benign
|
T
|
G
| false
|
reverse
| 12,427
|
1,034
| 1,034
| 771,857
|
NM_000546.6(TP53):c.549A>G (p.Ser183=)
|
TP53
| 17
| 7,675,063
| 7,675,063
|
Likely benign
|
T
|
C
| false
|
reverse
| 12,427
|
96
| 96
| 151,073
|
NM_000546.6(TP53):c.554G>A (p.Ser185Asn)
|
TP53
| 17
| 7,675,058
| 7,675,058
|
Likely benign
|
C
|
T
| false
|
reverse
| 12,432
|
206
| 206
| 185,369
|
NM_000546.6(TP53):c.555C>T (p.Ser185=)
|
TP53
| 17
| 7,675,057
| 7,675,057
|
Likely benign
|
G
|
A
| false
|
reverse
| 12,433
|
1,394
| 1,394
| 1,806,528
|
NM_000546.6(TP53):c.555C>G (p.Ser185Arg)
|
TP53
| 17
| 7,675,057
| 7,675,057
|
Likely benign
|
G
|
C
| false
|
reverse
| 12,433
|
572
| 572
| 402,562
|
NM_000546.6(TP53):c.556G>A (p.Asp186Asn)
|
TP53
| 17
| 7,675,056
| 7,675,056
|
Likely benign
|
C
|
T
| false
|
reverse
| 12,434
|
205
| 205
| 185,368
|
NM_000546.6(TP53):c.558T>C (p.Asp186=)
|
TP53
| 17
| 7,675,054
| 7,675,054
|
Likely benign
|
A
|
G
| false
|
reverse
| 12,436
|
320
| 320
| 236,484
|
NM_000546.6(TP53):c.558T>A (p.Asp186Glu)
|
TP53
| 17
| 7,675,054
| 7,675,054
|
Likely benign
|
A
|
T
| false
|
reverse
| 12,436
|
1,016
| 1,016
| 653,524
|
NM_000546.6(TP53):c.559+1G>T
|
TP53
| 17
| 7,675,052
| 7,675,052
|
Pathogenic/Likely pathogenic
|
C
|
A
| true
|
reverse
| 12,438
|
630
| 630
| 420,656
|
NM_000546.6(TP53):c.559+1G>A
|
TP53
| 17
| 7,675,052
| 7,675,052
|
Pathogenic/Likely pathogenic
|
C
|
T
| true
|
reverse
| 12,438
|
990
| 990
| 623,215
|
NM_000546.6(TP53):c.559+2T>A
|
TP53
| 17
| 7,675,051
| 7,675,051
|
Pathogenic
|
A
|
T
| true
|
reverse
| 12,439
|
1,013
| 1,013
| 653,036
|
NM_000546.6(TP53):c.559+6C>A
|
TP53
| 17
| 7,675,047
| 7,675,047
|
Likely benign
|
G
|
T
| false
|
reverse
| 12,443
|
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