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chrom
stringclasses
23 values
start
int64
45.7k
248M
end
int64
45.7k
248M
name
stringclasses
13 values
_clinSignCode
stringclasses
2 values
ref
stringclasses
4 values
mutate
stringclasses
4 values
effect
int64
0
1
chr1
943,994
943,995
C>T
PG
C
T
1
chr1
976,214
976,215
T>C
PG
T
C
1
chr1
1,013,982
1,013,983
G>A
PG
G
A
1
chr1
1,014,142
1,014,143
C>T
PG
C
T
1
chr1
1,041,581
1,041,582
C>T
PG
C
T
1
chr1
1,042,052
1,042,053
C>G
PG
C
G
1
chr1
1,042,100
1,042,101
G>A
PG
G
A
1
chr1
1,043,196
1,043,197
G>C
PG
G
C
1
chr1
1,044,110
1,044,111
G>T
PG
G
T
1
chr1
1,045,486
1,045,487
C>T
PG
C
T
1
chr1
1,047,867
1,047,868
C>T
PG
C
T
1
chr1
1,049,325
1,049,326
G>A
PG
G
A
1
chr1
1,050,448
1,050,449
G>A
PG
G
A
1
chr1
1,050,574
1,050,575
G>C
PG
G
C
1
chr1
1,213,737
1,213,738
C>T
PG
C
T
1
chr1
1,232,278
1,232,279
A>G
PG
A
G
1
chr1
1,232,279
1,232,280
T>C
PG
T
C
1
chr1
1,232,280
1,232,281
G>A
PG
G
A
1
chr1
1,232,470
1,232,471
A>G
PG
A
G
1
chr1
1,232,477
1,232,478
C>T
PG
C
T
1
chr1
1,232,743
1,232,744
G>A
PG
G
A
1
chr1
1,232,753
1,232,754
C>A
PG
C
A
1
chr1
1,232,833
1,232,834
T>C
PG
T
C
1
chr1
1,232,895
1,232,896
C>G
PG
C
G
1
chr1
1,232,896
1,232,897
G>C
PG
G
C
1
chr1
1,232,926
1,232,927
G>A
PG
G
A
1
chr1
1,233,043
1,233,044
C>T
PG
C
T
1
chr1
1,233,176
1,233,177
G>C
PG
G
C
1
chr1
1,233,202
1,233,203
T>A
PG
T
A
1
chr1
1,312,289
1,312,290
G>A
PG
G
A
1
chr1
1,312,840
1,312,841
C>T
PG
C
T
1
chr1
1,319,312
1,319,313
C>T
PG
C
T
1
chr1
1,320,492
1,320,493
G>A
PG
G
A
1
chr1
1,321,071
1,321,072
G>T
PG
G
T
1
chr1
1,339,362
1,339,363
C>A
PG
C
A
1
chr1
1,437,400
1,437,401
C>G
PG
C
G
1
chr1
1,516,035
1,516,036
T>G
PG
T
G
1
chr1
1,518,965
1,518,966
C>T
PG
C
T
1
chr1
1,518,986
1,518,987
C>T
PG
C
T
1
chr1
1,520,187
1,520,188
C>T
PG
C
T
1
chr1
1,525,241
1,525,242
T>G
PG
T
G
1
chr1
1,535,391
1,535,392
C>G
PG
C
G
1
chr1
1,535,615
1,535,616
C>T
PG
C
T
1
chr1
1,535,722
1,535,723
C>T
PG
C
T
1
chr1
1,787,437
1,787,438
G>T
PG
G
T
1
chr1
1,790,453
1,790,454
C>T
PG
C
T
1
chr1
1,804,495
1,804,496
A>G
PG
A
G
1
chr1
1,804,496
1,804,497
G>T
PG
G
T
1
chr1
1,804,501
1,804,502
G>T
PG
G
T
1
chr1
1,804,507
1,804,508
G>A
PG
G
A
1
chr1
1,804,561
1,804,562
G>T
PG
G
T
1
chr1
1,804,581
1,804,582
G>T
PG
G
T
1
chr1
1,806,502
1,806,503
T>A
PG
T
A
1
chr1
1,806,511
1,806,512
G>T
PG
G
T
1
chr1
1,806,512
1,806,513
G>T
PG
G
T
1
chr1
1,806,513
1,806,514
T>A
PG
T
A
1
chr1
1,806,514
1,806,515
A>G
PG
A
G
1
chr1
1,815,795
1,815,796
C>G
PG
C
G
1
chr1
1,923,832
1,923,833
G>C
PG
G
C
1
chr1
1,927,023
1,927,024
G>A
PG
G
A
1
chr1
1,970,721
1,970,722
G>A
PG
G
A
1
chr1
1,974,046
1,974,047
C>T
PG
C
T
1
chr1
2,029,196
2,029,197
C>G
PG
C
G
1
chr1
2,228,824
2,228,825
C>T
PG
C
T
1
chr1
2,228,827
2,228,828
T>G
PG
T
G
1
chr1
2,228,847
2,228,848
T>A
PG
T
A
1
chr1
2,228,856
2,228,857
T>C
PG
T
C
1
chr1
2,228,859
2,228,860
C>G
PG
C
G
1
chr1
2,228,865
2,228,866
G>C
PG
G
C
1
chr1
2,228,865
2,228,866
G>T
PG
G
T
1
chr1
2,228,866
2,228,867
G>T
PG
G
T
1
chr1
2,228,866
2,228,867
G>A
PG
G
A
1
chr1
2,228,868
2,228,869
C>T
PG
C
T
1
chr1
2,229,030
2,229,031
C>T
PG
C
T
1
chr1
2,406,514
2,406,515
G>A
PG
G
A
1
chr1
2,406,525
2,406,526
C>G
PG
C
G
1
chr1
2,406,568
2,406,569
G>C
PG
G
C
1
chr1
2,406,748
2,406,749
G>A
PG
G
A
1
chr1
2,406,765
2,406,766
C>T
PG
C
T
1
chr1
2,406,768
2,406,769
C>T
PG
C
T
1
chr1
2,406,897
2,406,898
C>T
PG
C
T
1
chr1
2,408,450
2,408,451
G>A
PG
G
A
1
chr1
2,408,840
2,408,841
G>T
PG
G
T
1
chr1
2,412,500
2,412,501
T>C
PG
T
C
1
chr1
2,412,501
2,412,502
A>T
PG
A
T
1
chr1
2,520,466
2,520,467
G>A
PG
G
A
1
chr1
3,385,246
3,385,247
C>A
PG
C
A
1
chr1
3,411,823
3,411,824
C>T
PG
C
T
1
chr1
3,412,300
3,412,301
A>T
PG
A
T
1
chr1
3,414,615
3,414,616
T>C
PG
T
C
1
chr1
3,728,136
3,728,137
C>T
PG
C
T
1
chr1
3,729,448
3,729,449
G>A
PG
G
A
1
chr1
3,816,371
3,816,372
A>G
PG
A
G
1
chr1
3,839,095
3,839,096
T>G
PG
T
G
1
chr1
3,839,605
3,839,606
T>C
PG
T
C
1
chr1
3,839,699
3,839,700
C>T
PG
C
T
1
chr1
3,844,976
3,844,977
C>T
PG
C
T
1
chr1
3,848,731
3,848,732
C>T
PG
C
T
1
chr1
5,865,151
5,865,152
C>T
PG
C
T
1
chr1
5,865,217
5,865,218
C>T
PG
C
T
1
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