rs970137214
|
|
1
|
1.000 |
0.120 |
18 |
3457798 |
missense variant
|
C/T
|
snv |
8.0E-06
|
2.1E-05
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs876661335
|
|
1
|
1.000 |
0.120 |
8 |
38414264 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs876661331
|
|
1
|
1.000 |
0.120 |
10 |
101770447 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs876661330
|
|
3
|
0.882 |
0.160 |
10 |
101771522 |
stop gained
|
G/A
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs876661329
|
|
2
|
0.925 |
0.120 |
10 |
101771551 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs771803303
|
|
3
|
0.882 |
0.160 |
20 |
38148005 |
missense variant
|
G/A;C;T
|
snv |
1.6E-05;
4.1E-06
|
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs749567106
|
|
2
|
0.925 |
0.120 |
13 |
99985449 |
inframe insertion
|
GGCGGCGGC/-;GGC;GGCGGC;GGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs730882210
|
|
6
|
0.827 |
0.280 |
20 |
45304356 |
missense variant
|
C/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs61730334
|
|
1
|
1.000 |
0.120 |
10 |
101771509 |
missense variant
|
G/A;C
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs587778806
|
|
2
|
0.925 |
0.120 |
7 |
155803581 |
missense variant
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs587778805
|
|
2
|
0.925 |
0.120 |
7 |
155803625 |
missense variant
|
C/T
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs587778803
|
|
1
|
1.000 |
0.120 |
7 |
155803664 |
stop gained
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs587778799
|
|
2
|
0.925 |
0.120 |
7 |
155806296 |
missense variant
|
C/G
|
snv |
|
|
0.710 |
1.000 |
1 |
2005 |
2005 |
rs587778792
|
|
2
|
0.925 |
0.120 |
7 |
155811823 |
missense variant
|
C/G
|
snv |
|
|
0.710 |
1.000 |
1 |
2005 |
2005 |
rs587778789
|
|
1
|
1.000 |
0.120 |
7 |
155812078 |
frameshift variant
|
GACGAGGA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs587778788
|
|
1
|
1.000 |
0.120 |
7 |
155812113 |
frameshift variant
|
-/CAGC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs587778786
|
|
1
|
1.000 |
0.120 |
7 |
155803063 |
inframe deletion
|
CCCGCGGTCCCCGCC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs528376963
|
|
1
|
1.000 |
0.120 |
8 |
38424565 |
missense variant
|
C/T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs397515376
|
|
2
|
0.925 |
0.120 |
7 |
155803149 |
inframe deletion
|
GCGCGAAGG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs397515375
|
|
2
|
0.925 |
0.120 |
7 |
155803481 |
inframe deletion
|
GCGGCGGTGAGCAGCAGGCGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs397515365
|
|
2
|
0.925 |
0.120 |
13 |
99983104 |
frameshift variant
|
GAGAACC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs397515364
|
|
2
|
0.925 |
0.120 |
13 |
99985400 |
frameshift variant
|
-/C
|
delins |
|
|
0.700 |
|
0 |
|
|
rs377240055
|
|
1
|
1.000 |
0.120 |
10 |
101770498 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs370755364
|
|
1
|
1.000 |
0.120 |
9 |
95480451 |
missense variant
|
G/A
|
snv |
9.9E-05
|
6.4E-05
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs28936675
|
|
2
|
0.925 |
0.120 |
7 |
155812032 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|