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
|
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
849
| 849
| 497,494
|
NM_000546.6(TP53):c.672+2T>A
|
TP53
| 17
| 7,674,857
| 7,674,857
|
Likely pathogenic
|
A
|
T
| true
|
reverse
| 12,633
|
989
| 989
| 623,213
|
NM_000546.6(TP53):c.672+2T>G
|
TP53
| 17
| 7,674,857
| 7,674,857
|
Pathogenic
|
A
|
C
| true
|
reverse
| 12,633
|
1,263
| 1,263
| 1,199,563
|
NM_000546.6(TP53):c.672+2T>C
|
TP53
| 17
| 7,674,857
| 7,674,857
|
Pathogenic
|
A
|
G
| true
|
reverse
| 12,633
|
1,561
| 1,561
| 2,902,639
|
NM_000546.6(TP53):c.672+14C>T
|
TP53
| 17
| 7,674,845
| 7,674,845
|
Likely benign
|
G
|
A
| false
|
reverse
| 12,645
|
782
| 782
| 485,148
|
NM_000546.6(TP53):c.672+14C>G
|
TP53
| 17
| 7,674,845
| 7,674,845
|
Likely benign
|
G
|
C
| false
|
reverse
| 12,645
|
531
| 531
| 376,611
|
NM_000546.6(TP53):c.672+15T>G
|
TP53
| 17
| 7,674,844
| 7,674,844
|
Likely benign
|
A
|
C
| false
|
reverse
| 12,646
|
781
| 781
| 485,143
|
NM_000546.6(TP53):c.672+15T>C
|
TP53
| 17
| 7,674,844
| 7,674,844
|
Likely benign
|
A
|
G
| false
|
reverse
| 12,646
|
780
| 780
| 485,135
|
NM_000546.6(TP53):c.672+16G>A
|
TP53
| 17
| 7,674,843
| 7,674,843
|
Likely benign
|
C
|
T
| false
|
reverse
| 12,647
|
161
| 161
| 181,004
|
NM_000546.6(TP53):c.672+18G>C
|
TP53
| 17
| 7,674,841
| 7,674,841
|
Benign/Likely benign
|
C
|
G
| false
|
reverse
| 12,649
|
798
| 798
| 485,321
|
NM_000546.6(TP53):c.672+19G>A
|
TP53
| 17
| 7,674,840
| 7,674,840
|
Likely benign
|
C
|
T
| false
|
reverse
| 12,650
|
1,467
| 1,467
| 1,940,739
|
NM_000546.6(TP53):c.672+20T>A
|
TP53
| 17
| 7,674,839
| 7,674,839
|
Likely benign
|
A
|
T
| false
|
reverse
| 12,651
|
73
| 73
| 137,159
|
NM_000546.6(TP53):c.672+31A>G
|
TP53
| 17
| 7,674,828
| 7,674,828
|
Benign/Likely benign
|
T
|
C
| false
|
reverse
| 12,662
|
72
| 72
| 137,158
|
NM_000546.6(TP53):c.672+35G>T
|
TP53
| 17
| 7,674,824
| 7,674,824
|
Likely benign
|
C
|
A
| false
|
reverse
| 12,666
|
1,284
| 1,284
| 1,316,747
|
NM_000546.6(TP53):c.672+48G>T
|
TP53
| 17
| 7,674,811
| 7,674,811
|
Likely benign
|
C
|
A
| false
|
reverse
| 12,679
|
1,262
| 1,262
| 1,185,318
|
NM_000546.6(TP53):c.672+48G>A
|
TP53
| 17
| 7,674,811
| 7,674,811
|
Benign/Likely benign
|
C
|
T
| false
|
reverse
| 12,679
|
371
| 371
| 256,462
|
NM_000546.6(TP53):c.672+62A>G
|
TP53
| 17
| 7,674,797
| 7,674,797
|
Benign
|
T
|
C
| false
|
reverse
| 12,693
|
1,019
| 1,019
| 669,110
|
NM_000546.6(TP53):c.672+220G>T
|
TP53
| 17
| 7,674,639
| 7,674,639
|
Benign
|
C
|
A
| false
|
reverse
| 12,851
|
1,259
| 1,259
| 1,178,209
|
NM_000546.6(TP53):c.673-100C>T
|
TP53
| 17
| 7,674,390
| 7,674,390
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,100
|
1,610
| 1,610
| 3,198,192
|
NM_000546.6(TP53):c.673-45C>T
|
TP53
| 17
| 7,674,335
| 7,674,335
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,155
|
1,422
| 1,422
| 1,822,245
|
NM_000546.6(TP53):c.673-44C>T
|
TP53
| 17
| 7,674,334
| 7,674,334
|
Benign
|
G
|
A
| false
|
reverse
| 13,156
|
280
| 280
| 222,739
|
NM_000546.6(TP53):c.673-36G>C
|
TP53
| 17
| 7,674,326
| 7,674,326
|
Benign
|
C
|
G
| false
|
reverse
| 13,164
|
1,583
| 1,583
| 2,978,662
|
NM_000546.6(TP53):c.673-20G>T
|
TP53
| 17
| 7,674,310
| 7,674,310
|
Likely benign
|
C
|
A
| false
|
reverse
| 13,180
|
520
| 520
| 375,723
|
NM_000546.6(TP53):c.673-19G>A
|
TP53
| 17
| 7,674,309
| 7,674,309
|
Benign/Likely benign
|
C
|
T
| false
|
reverse
| 13,181
|
1,338
| 1,338
| 1,595,364
|
NM_000546.6(TP53):c.673-18G>A
|
TP53
| 17
| 7,674,308
| 7,674,308
|
Likely benign
|
C
|
T
| false
|
reverse
| 13,182
|
1,497
| 1,497
| 2,093,661
|
NM_000546.6(TP53):c.673-16C>T
|
TP53
| 17
| 7,674,306
| 7,674,306
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,184
|
1,337
| 1,337
| 1,593,189
|
NM_000546.6(TP53):c.673-15T>G
|
TP53
| 17
| 7,674,305
| 7,674,305
|
Likely benign
|
A
|
C
| false
|
reverse
| 13,185
|
833
| 833
| 485,521
|
NM_000546.6(TP53):c.673-13T>C
|
TP53
| 17
| 7,674,303
| 7,674,303
|
Likely benign
|
A
|
G
| false
|
reverse
| 13,187
|
1,342
| 1,342
| 1,604,639
|
NM_000546.6(TP53):c.673-12G>A
|
TP53
| 17
| 7,674,302
| 7,674,302
|
Likely benign
|
C
|
T
| false
|
reverse
| 13,188
|
923
| 923
| 619,639
|
NM_000546.6(TP53):c.673-9A>G
|
TP53
| 17
| 7,674,299
| 7,674,299
|
Likely benign
|
T
|
C
| false
|
reverse
| 13,191
|
816
| 816
| 485,363
|
NM_000546.6(TP53):c.673-5C>A
|
TP53
| 17
| 7,674,295
| 7,674,295
|
Likely benign
|
G
|
T
| false
|
reverse
| 13,195
|
314
| 314
| 236,472
|
NM_000546.6(TP53):c.673-5C>G
|
TP53
| 17
| 7,674,295
| 7,674,295
|
Likely benign
|
G
|
C
| false
|
reverse
| 13,195
|
988
| 988
| 623,212
|
NM_000546.6(TP53):c.673-2A>C
|
TP53
| 17
| 7,674,292
| 7,674,292
|
not provided
|
T
|
G
| false
|
reverse
| 13,198
|
987
| 987
| 623,211
|
NM_000546.6(TP53):c.673-2A>T
|
TP53
| 17
| 7,674,292
| 7,674,292
|
Pathogenic/Likely pathogenic
|
T
|
A
| true
|
reverse
| 13,198
|
667
| 667
| 468,384
|
NM_000546.6(TP53):c.673-2A>G
|
TP53
| 17
| 7,674,292
| 7,674,292
|
Pathogenic/Likely pathogenic
|
T
|
C
| true
|
reverse
| 13,198
|
539
| 539
| 376,684
|
NM_000546.6(TP53):c.673-1G>A
|
TP53
| 17
| 7,674,291
| 7,674,291
|
Pathogenic
|
C
|
T
| true
|
reverse
| 13,199
|
1,266
| 1,266
| 1,218,333
|
NM_000546.6(TP53):c.673-1G>C
|
TP53
| 17
| 7,674,291
| 7,674,291
|
Pathogenic/Likely pathogenic
|
C
|
G
| true
|
reverse
| 13,199
|
355
| 355
| 242,981
|
NM_000546.6(TP53):c.673-1G>T
|
TP53
| 17
| 7,674,291
| 7,674,291
|
Pathogenic
|
C
|
A
| true
|
reverse
| 13,199
|
699
| 699
| 479,250
|
NM_000546.6(TP53):c.675T>C (p.Val225=)
|
TP53
| 17
| 7,674,288
| 7,674,288
|
Likely benign
|
A
|
G
| false
|
reverse
| 13,202
|
1,564
| 1,564
| 2,908,653
|
NM_000546.6(TP53):c.678C>G (p.Gly226=)
|
TP53
| 17
| 7,674,285
| 7,674,285
|
Likely benign
|
G
|
C
| false
|
reverse
| 13,205
|
862
| 862
| 507,181
|
NM_000546.6(TP53):c.678C>A (p.Gly226=)
|
TP53
| 17
| 7,674,285
| 7,674,285
|
Likely benign
|
G
|
T
| false
|
reverse
| 13,205
|
1,488
| 1,488
| 2,075,581
|
NM_000546.6(TP53):c.678C>T (p.Gly226=)
|
TP53
| 17
| 7,674,285
| 7,674,285
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,205
|
725
| 725
| 479,342
|
NM_000546.6(TP53):c.681T>G (p.Ser227=)
|
TP53
| 17
| 7,674,282
| 7,674,282
|
Likely benign
|
A
|
C
| false
|
reverse
| 13,208
|
1,522
| 1,522
| 2,423,245
|
NM_000546.6(TP53):c.682G>T (p.Asp228Tyr)
|
TP53
| 17
| 7,674,281
| 7,674,281
|
Likely benign
|
C
|
A
| false
|
reverse
| 13,209
|
1,281
| 1,281
| 1,306,012
|
NM_000546.6(TP53):c.687T>C (p.Cys229=)
|
TP53
| 17
| 7,674,276
| 7,674,276
|
Likely benign
|
A
|
G
| false
|
reverse
| 13,214
|
1,603
| 1,603
| 3,058,874
|
NM_000546.6(TP53):c.690C>T (p.Thr230=)
|
TP53
| 17
| 7,674,273
| 7,674,273
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,217
|
1,318
| 1,318
| 1,531,420
|
NM_000546.6(TP53):c.693C>T (p.Thr231=)
|
TP53
| 17
| 7,674,270
| 7,674,270
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,220
|
1,139
| 1,139
| 914,188
|
NM_000546.6(TP53):c.693C>A (p.Thr231=)
|
TP53
| 17
| 7,674,270
| 7,674,270
|
Likely benign
|
G
|
T
| false
|
reverse
| 13,220
|
959
| 959
| 622,596
|
NM_000546.6(TP53):c.695T>G (p.Ile232Ser)
|
TP53
| 17
| 7,674,268
| 7,674,268
|
Pathogenic
|
A
|
C
| true
|
reverse
| 13,222
|
1,104
| 1,104
| 846,269
|
NM_000546.6(TP53):c.695T>A (p.Ile232Asn)
|
TP53
| 17
| 7,674,268
| 7,674,268
|
Pathogenic/Likely pathogenic
|
A
|
T
| true
|
reverse
| 13,222
|
93
| 93
| 150,938
|
NM_000546.6(TP53):c.695T>C (p.Ile232Thr)
|
TP53
| 17
| 7,674,268
| 7,674,268
|
Pathogenic/Likely pathogenic
|
A
|
G
| true
|
reverse
| 13,222
|
196
| 196
| 185,357
|
NM_000546.6(TP53):c.696C>T (p.Ile232=)
|
TP53
| 17
| 7,674,267
| 7,674,267
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,223
|
1,217
| 1,217
| 1,105,424
|
NM_000546.6(TP53):c.699C>T (p.His233=)
|
TP53
| 17
| 7,674,264
| 7,674,264
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,226
|
511
| 511
| 363,571
|
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)
|
TP53
| 17
| 7,674,263
| 7,674,263
|
Pathogenic
|
A
|
T
| true
|
reverse
| 13,227
|
279
| 279
| 222,738
|
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
|
TP53
| 17
| 7,674,263
| 7,674,263
|
Pathogenic/Likely pathogenic
|
A
|
C
| true
|
reverse
| 13,227
|
510
| 510
| 363,570
|
NM_000546.6(TP53):c.700T>C (p.Tyr234His)
|
TP53
| 17
| 7,674,263
| 7,674,263
|
Pathogenic/Likely pathogenic
|
A
|
G
| true
|
reverse
| 13,227
|
58
| 58
| 133,277
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
TP53
| 17
| 7,674,262
| 7,674,262
|
Pathogenic/Likely pathogenic
|
T
|
C
| true
|
reverse
| 13,228
|
1,202
| 1,202
| 1,064,414
|
NM_000546.6(TP53):c.702C>G (p.Tyr234Ter)
|
TP53
| 17
| 7,674,261
| 7,674,261
|
Pathogenic
|
G
|
C
| true
|
reverse
| 13,229
|
1,547
| 1,547
| 2,801,597
|
NM_000546.6(TP53):c.702C>A (p.Tyr234Ter)
|
TP53
| 17
| 7,674,261
| 7,674,261
|
Pathogenic
|
G
|
T
| true
|
reverse
| 13,229
|
59
| 59
| 133,278
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
TP53
| 17
| 7,674,259
| 7,674,259
|
Benign
|
T
|
C
| false
|
reverse
| 13,231
|
1,207
| 1,207
| 1,083,628
|
NM_000546.6(TP53):c.705C>T (p.Asn235=)
|
TP53
| 17
| 7,674,258
| 7,674,258
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,232
|
264
| 264
| 213,394
|
NM_000546.6(TP53):c.706T>C (p.Tyr236His)
|
TP53
| 17
| 7,674,257
| 7,674,257
|
Pathogenic/Likely pathogenic
|
A
|
G
| true
|
reverse
| 13,233
|
1,049
| 1,049
| 785,759
|
NM_000546.6(TP53):c.708C>T (p.Tyr236=)
|
TP53
| 17
| 7,674,255
| 7,674,255
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,235
|
1,549
| 1,549
| 2,843,127
|
NM_000546.6(TP53):c.708C>A (p.Tyr236Ter)
|
TP53
| 17
| 7,674,255
| 7,674,255
|
Pathogenic
|
G
|
T
| true
|
reverse
| 13,235
|
1,365
| 1,365
| 1,678,277
|
NM_000546.6(TP53):c.708C>G (p.Tyr236Ter)
|
TP53
| 17
| 7,674,255
| 7,674,255
|
Pathogenic
|
G
|
C
| true
|
reverse
| 13,235
|
462
| 462
| 363,515
|
NM_000546.6(TP53):c.710T>A (p.Met237Lys)
|
TP53
| 17
| 7,674,253
| 7,674,253
|
Pathogenic/Likely pathogenic
|
A
|
T
| true
|
reverse
| 13,237
|
1,412
| 1,412
| 1,819,274
|
NM_000546.6(TP53):c.711G>C (p.Met237Ile)
|
TP53
| 17
| 7,674,252
| 7,674,252
|
Pathogenic/Likely pathogenic
|
C
|
G
| true
|
reverse
| 13,238
|
133
| 133
| 152,428
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
TP53
| 17
| 7,674,252
| 7,674,252
|
Pathogenic
|
C
|
T
| true
|
reverse
| 13,238
|
958
| 958
| 622,595
|
NM_000546.6(TP53):c.711G>T (p.Met237Ile)
|
TP53
| 17
| 7,674,252
| 7,674,252
|
Pathogenic/Likely pathogenic
|
C
|
A
| true
|
reverse
| 13,238
|
414
| 414
| 363,456
|
NM_000546.6(TP53):c.712T>G (p.Cys238Gly)
|
TP53
| 17
| 7,674,251
| 7,674,251
|
Pathogenic
|
A
|
C
| true
|
reverse
| 13,239
|
413
| 413
| 363,455
|
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)
|
TP53
| 17
| 7,674,251
| 7,674,251
|
Pathogenic/Likely pathogenic
|
A
|
G
| true
|
reverse
| 13,239
|
412
| 412
| 363,454
|
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)
|
TP53
| 17
| 7,674,250
| 7,674,250
|
Pathogenic/Likely pathogenic
|
C
|
G
| true
|
reverse
| 13,240
|
411
| 411
| 363,453
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
TP53
| 17
| 7,674,250
| 7,674,250
|
Pathogenic/Likely pathogenic
|
C
|
A
| true
|
reverse
| 13,240
|
158
| 158
| 181,000
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
TP53
| 17
| 7,674,250
| 7,674,250
|
Pathogenic/Likely pathogenic
|
C
|
T
| true
|
reverse
| 13,240
|
142
| 142
| 171,615
|
NM_000546.6(TP53):c.714T>G (p.Cys238Trp)
|
TP53
| 17
| 7,674,249
| 7,674,249
|
Pathogenic/Likely pathogenic
|
A
|
C
| true
|
reverse
| 13,241
|
1,632
| 1,632
| 3,385,602
|
NM_000546.6(TP53):c.714T>A (p.Cys238Ter)
|
TP53
| 17
| 7,674,249
| 7,674,249
|
Pathogenic
|
A
|
T
| true
|
reverse
| 13,241
|
463
| 463
| 363,516
|
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)
|
TP53
| 17
| 7,674,247
| 7,674,247
|
Likely pathogenic
|
T
|
C
| true
|
reverse
| 13,243
|
752
| 752
| 480,026
|
NM_000546.6(TP53):c.717C>T (p.Asn239=)
|
TP53
| 17
| 7,674,246
| 7,674,246
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,244
|
907
| 907
| 576,031
|
NM_000546.6(TP53):c.718A>G (p.Ser240Gly)
|
TP53
| 17
| 7,674,245
| 7,674,245
|
Pathogenic/Likely pathogenic
|
T
|
C
| true
|
reverse
| 13,245
|
1,074
| 1,074
| 814,472
|
NM_000546.6(TP53):c.718A>C (p.Ser240Arg)
|
TP53
| 17
| 7,674,245
| 7,674,245
|
Likely pathogenic
|
T
|
G
| true
|
reverse
| 13,245
|
1,526
| 1,526
| 2,667,997
|
NM_000546.6(TP53):c.719G>A (p.Ser240Asn)
|
TP53
| 17
| 7,674,244
| 7,674,244
|
Pathogenic
|
C
|
T
| true
|
reverse
| 13,246
|
1,504
| 1,504
| 2,150,562
|
NM_000546.6(TP53):c.720T>C (p.Ser240=)
|
TP53
| 17
| 7,674,243
| 7,674,243
|
Likely benign
|
A
|
G
| false
|
reverse
| 13,247
|
1,181
| 1,181
| 950,308
|
NM_000546.6(TP53):c.721T>A (p.Ser241Thr)
|
TP53
| 17
| 7,674,242
| 7,674,242
|
Pathogenic/Likely pathogenic
|
A
|
T
| true
|
reverse
| 13,248
|
12
| 12
| 27,398
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
TP53
| 17
| 7,674,241
| 7,674,241
|
Pathogenic/Likely pathogenic
|
G
|
A
| true
|
reverse
| 13,249
|
486
| 486
| 363,542
|
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)
|
TP53
| 17
| 7,674,241
| 7,674,241
|
Pathogenic/Likely pathogenic
|
G
|
T
| true
|
reverse
| 13,249
|
144
| 144
| 176,503
|
NM_000546.6(TP53):c.722C>G (p.Ser241Cys)
|
TP53
| 17
| 7,674,241
| 7,674,241
|
Pathogenic/Likely pathogenic
|
G
|
C
| true
|
reverse
| 13,249
|
1,399
| 1,399
| 1,812,732
|
NM_000546.6(TP53):c.723C>T (p.Ser241=)
|
TP53
| 17
| 7,674,240
| 7,674,240
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,250
|
7
| 7
| 27,393
|
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
|
TP53
| 17
| 7,674,238
| 7,674,238
|
Pathogenic/Likely pathogenic
|
C
|
T
| true
|
reverse
| 13,252
|
1,465
| 1,465
| 1,903,534
|
NM_000546.6(TP53):c.726C>T (p.Cys242=)
|
TP53
| 17
| 7,674,237
| 7,674,237
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,253
|
417
| 417
| 363,459
|
NM_000546.6(TP53):c.726C>G (p.Cys242Trp)
|
TP53
| 17
| 7,674,237
| 7,674,237
|
Pathogenic
|
G
|
C
| true
|
reverse
| 13,253
|
1,310
| 1,310
| 1,504,398
|
NM_000546.6(TP53):c.726C>A (p.Cys242Ter)
|
TP53
| 17
| 7,674,237
| 7,674,237
|
Pathogenic
|
G
|
T
| true
|
reverse
| 13,253
|
435
| 435
| 363,481
|
NM_000546.6(TP53):c.730G>C (p.Gly244Arg)
|
TP53
| 17
| 7,674,233
| 7,674,233
|
Likely pathogenic
|
C
|
G
| true
|
reverse
| 13,257
|
433
| 433
| 363,479
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
TP53
| 17
| 7,674,233
| 7,674,233
|
Pathogenic
|
C
|
T
| true
|
reverse
| 13,257
|
657
| 657
| 467,518
|
NM_000546.6(TP53):c.731G>C (p.Gly244Ala)
|
TP53
| 17
| 7,674,232
| 7,674,232
|
Pathogenic/Likely pathogenic
|
C
|
G
| true
|
reverse
| 13,258
|
434
| 434
| 363,480
|
NM_000546.6(TP53):c.731G>T (p.Gly244Val)
|
TP53
| 17
| 7,674,232
| 7,674,232
|
Likely pathogenic
|
C
|
A
| true
|
reverse
| 13,258
|
393
| 393
| 360,335
|
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)
|
TP53
| 17
| 7,674,232
| 7,674,232
|
Pathogenic/Likely pathogenic
|
C
|
T
| true
|
reverse
| 13,258
|
1,216
| 1,216
| 1,105,423
|
NM_000546.6(TP53):c.732C>A (p.Gly244=)
|
TP53
| 17
| 7,674,231
| 7,674,231
|
Likely benign
|
G
|
T
| false
|
reverse
| 13,259
|
278
| 278
| 222,737
|
NM_000546.6(TP53):c.732C>T (p.Gly244=)
|
TP53
| 17
| 7,674,231
| 7,674,231
|
Likely benign
|
G
|
A
| false
|
reverse
| 13,259
|
15
| 15
| 27,404
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
TP53
| 17
| 7,674,230
| 7,674,230
|
Pathogenic
|
C
|
T
| true
|
reverse
| 13,260
|
2
| 2
| 27,388
|
NM_000546.6(TP53):c.733G>T (p.Gly245Cys)
|
TP53
| 17
| 7,674,230
| 7,674,230
|
Pathogenic
|
C
|
A
| true
|
reverse
| 13,260
|
436
| 436
| 363,482
|
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
|
TP53
| 17
| 7,674,229
| 7,674,229
|
Pathogenic
|
C
|
A
| true
|
reverse
| 13,261
|
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