rs1057516286
|
|
1
|
1.000 |
0.200 |
22 |
50084819 |
stop gained
|
-/T
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1057516336
|
|
1
|
1.000 |
0.200 |
22 |
50080393 |
frameshift variant
|
AT/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1057516465
|
|
1
|
1.000 |
0.200 |
22 |
50064120 |
stop gained
|
G/A
|
snv |
4.0E-06
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs1057516766
|
|
1
|
1.000 |
0.200 |
22 |
50084767 |
frameshift variant
|
A/-
|
del |
|
7.0E-06
|
0.700 |
1.000 |
2 |
2009 |
2015 |
rs1057517090
|
|
1
|
1.000 |
0.200 |
22 |
50077471 |
frameshift variant
|
AGCAGGA/-
|
del |
|
|
0.700 |
1.000 |
3 |
2001 |
2015 |
rs1057517228
|
|
1
|
1.000 |
0.200 |
22 |
50084836 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057517375
|
|
1
|
1.000 |
0.200 |
22 |
50074305 |
frameshift variant
|
CA/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1114167286
|
|
1
|
1.000 |
0.200 |
22 |
50074313 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121908341
|
|
1
|
1.000 |
0.200 |
22 |
50068488 |
missense variant
|
G/A
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
5 |
2001 |
2012 |
rs121908343
|
|
1
|
1.000 |
0.200 |
22 |
50079918 |
missense variant
|
G/A;T
|
snv |
8.0E-06
|
|
0.800 |
1.000 |
5 |
2001 |
2012 |
rs121908344
|
|
1
|
1.000 |
0.200 |
22 |
50079919 |
missense variant
|
T/C
|
snv |
|
|
0.800 |
1.000 |
5 |
2001 |
2012 |
rs121908345
|
|
6
|
0.827 |
0.240 |
22 |
50080391 |
missense variant
|
G/A
|
snv |
1.3E-04
|
6.3E-05
|
0.800 |
1.000 |
10 |
2001 |
2013 |
rs1555962581
|
|
1
|
1.000 |
0.200 |
22 |
50061585 |
stop lost
|
A/G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555963392
|
|
1
|
1.000 |
0.200 |
22 |
50064033 |
splice donor variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555967227
|
|
1
|
1.000 |
0.200 |
22 |
50077478 |
frameshift variant
|
G/-
|
del |
|
|
0.700 |
1.000 |
2 |
2015 |
2015 |
rs1555967644
|
|
1
|
1.000 |
0.200 |
22 |
50079810 |
splice donor variant
|
TGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAAGAAAAAAGGTAACAGATAAACCACACTTCAGGCCATTCACTAAAAATTATCCTGATTAGGACATAATGGTGGGGAGTCCTGCGTGCTCAGCCCGCTCTCCCCTCTGTGCGGCAAAGGCTGGGCTGGGCAGGAGCTTTACTGTCTGGGGGGCAACCTCGGGGGCCCCTCTCGGTGCCACAACGTCTGTGCGTGGGCACACACACAAGCACACATGGGCACACTGTCTGTCAGCCCCTCCGGCTTTCTCCCTGGCAGAGGCTGCCTGCAAGCTAGACTCACCACATTGGCGTTCCTCCTGGAGAC/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1555967668
|
|
1
|
1.000 |
0.200 |
22 |
50079915 |
splice donor variant
|
-/A
|
delins |
|
|
0.700 |
1.000 |
3 |
2001 |
2017 |
rs1555968785
|
|
1
|
1.000 |
0.200 |
22 |
50084861 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1565339091
|
|
4
|
1.000 |
0.200 |
11 |
124924796 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs184241759
|
|
1
|
1.000 |
0.200 |
22 |
50084838 |
missense variant
|
C/T
|
snv |
4.7E-04
|
1.5E-04
|
0.700 |
1.000 |
2 |
2011 |
2012 |
rs267607236
|
|
1
|
1.000 |
0.200 |
22 |
50076841 |
frameshift variant
|
GAGT/-
|
delins |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs281875309
|
|
1
|
1.000 |
0.200 |
22 |
50083145 |
missense variant
|
G/A
|
snv |
2.8E-05
|
1.4E-05
|
0.810 |
1.000 |
6 |
2001 |
2012 |
rs281875310
|
|
1
|
1.000 |
0.200 |
22 |
50083111 |
missense variant
|
C/T
|
snv |
4.0E-06
|
1.4E-05
|
0.700 |
1.000 |
5 |
2001 |
2012 |
rs281875311
|
|
1
|
1.000 |
0.200 |
22 |
50083101 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
5 |
2001 |
2012 |
rs281875312
|
|
1
|
1.000 |
0.200 |
22 |
50070565 |
missense variant
|
C/G
|
snv |
|
|
0.700 |
1.000 |
5 |
2001 |
2012 |