rs397515020
|
|
1
|
1.000 |
0.120 |
16 |
2048658 |
frameshift variant
|
T/-;TT
|
delins |
|
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs137854117
|
|
1
|
1.000 |
0.120 |
16 |
2048750 |
splice donor variant
|
AGAG/-;AG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs137854360
|
|
1
|
1.000 |
0.120 |
16 |
2048747 |
frameshift variant
|
CTGA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs45512692
|
|
1
|
1.000 |
0.120 |
16 |
2048649 |
stop gained
|
A/T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs748011804
|
|
1
|
1.000 |
0.120 |
1 |
9718800 |
missense variant
|
A/G
|
snv |
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs45517418
|
|
1
|
1.000 |
0.120 |
16 |
2088504 |
missense variant
|
A/C;G
|
snv |
8.0E-06
|
|
0.700 |
1.000 |
20 |
1996 |
2017 |
rs777166275
|
|
1
|
1.000 |
0.120 |
16 |
2088533 |
missense variant
|
G/A;C
|
snv |
1.2E-05;
4.0E-06
|
|
0.700 |
1.000 |
20 |
1996 |
2017 |
rs45459299
|
|
1
|
1.000 |
0.120 |
16 |
2088314 |
missense variant
|
C/T
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
16 |
1996 |
2005 |
rs45517413
|
|
1
|
1.000 |
0.120 |
16 |
2088297 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
1.000 |
16 |
1996 |
2005 |
rs45507199
|
|
3
|
0.925 |
0.120 |
16 |
2088294 |
missense variant
|
G/A;C;T
|
snv |
|
|
0.800 |
1.000 |
13 |
1998 |
2017 |
rs45517412
|
|
4
|
0.882 |
0.200 |
16 |
2088293 |
missense variant
|
C/G;T
|
snv |
|
|
0.700 |
1.000 |
11 |
1998 |
2016 |
rs137854218
|
|
3
|
0.925 |
0.120 |
16 |
2088293 |
inframe insertion
|
CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA
|
delins |
|
|
0.700 |
1.000 |
6 |
1998 |
2013 |
rs1064792923
|
|
1
|
1.000 |
0.120 |
16 |
2088461 |
frameshift variant
|
TCCAACCCCAGCCTAC/-
|
delins |
|
|
0.700 |
1.000 |
5 |
1997 |
2015 |
rs45517411
|
|
1
|
1.000 |
0.120 |
16 |
2088286 |
stop gained
|
G/A;T
|
snv |
|
|
0.700 |
1.000 |
5 |
1997 |
2015 |
rs137854397
|
|
1
|
1.000 |
0.120 |
16 |
2088312 |
splice donor variant
|
GCCAGCGGGTAGGGAATATGGGGCTCC/-
|
delins |
|
|
0.700 |
1.000 |
3 |
2001 |
2014 |
rs137854317
|
|
1
|
1.000 |
0.120 |
16 |
2088324 |
splice donor variant
|
G/-
|
delins |
|
|
0.700 |
1.000 |
2 |
1999 |
2007 |
rs1567135103
|
|
1
|
1.000 |
0.120 |
16 |
2088579 |
stop lost
|
CCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA/-
|
del |
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs45472701
|
|
1
|
1.000 |
0.120 |
16 |
2088236 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs1060499676
|
|
1
|
1.000 |
0.120 |
16 |
2088234 |
stop gained
|
C/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs137854251
|
|
1
|
1.000 |
0.120 |
16 |
2088227 |
frameshift variant
|
A/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs45517404
|
|
1
|
1.000 |
0.120 |
16 |
2088226 |
splice acceptor variant
|
G/A;C;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs878854118
|
|
1
|
1.000 |
0.120 |
16 |
2088452 |
frameshift variant
|
G/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs118203490
|
|
1
|
1.000 |
0.120 |
9 |
132911103 |
stop gained
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs45517258
|
|
2
|
0.925 |
0.120 |
16 |
2076141 |
missense variant
|
C/G;T
|
snv |
|
|
0.800 |
1.000 |
29 |
1996 |
2017 |
rs45517259
|
|
3
|
0.925 |
0.120 |
16 |
2076142 |
missense variant
|
G/A
|
snv |
|
|
0.800 |
1.000 |
27 |
1996 |
2017 |