rs745404679
|
|
1
|
1.000 |
0.120 |
11 |
64804549 |
missense variant
|
G/A;T
|
snv |
1.1E-04;
4.0E-06
|
|
0.700 |
1.000 |
8 |
2001 |
2017 |
rs794728614
|
|
1
|
1.000 |
0.120 |
11 |
64810075 |
missense variant
|
G/A
|
snv |
|
|
0.800 |
1.000 |
8 |
2001 |
2017 |
rs1060499974
|
|
2
|
1.000 |
0.120 |
11 |
64805141 |
stop gained
|
G/A
|
snv |
|
7.0E-06
|
0.700 |
1.000 |
7 |
1997 |
2015 |
rs104894261
|
|
2
|
1.000 |
0.120 |
11 |
64804588 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
1.000 |
6 |
1997 |
2014 |
rs386134250
|
|
2
|
1.000 |
0.120 |
11 |
64810109 |
start lost
|
T/A;C;G
|
snv |
|
|
0.710 |
1.000 |
6 |
2000 |
2017 |
rs794728625
|
|
1
|
1.000 |
0.120 |
11 |
64807228 |
intron variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
6 |
1999 |
2012 |
rs794728631
|
|
2
|
1.000 |
0.120 |
11 |
64804507 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
1.000 |
6 |
1999 |
2007 |
rs794728640
|
|
2
|
1.000 |
0.120 |
11 |
64807914 |
frameshift variant
|
TCTG/-
|
delins |
|
|
0.700 |
1.000 |
6 |
1998 |
2014 |
rs794728652
|
|
2
|
1.000 |
0.120 |
11 |
64807551 |
splice donor variant
|
C/A;T
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
6 |
1998 |
2012 |
rs794728657
|
|
2
|
1.000 |
0.120 |
11 |
64809750 |
inframe deletion
|
TTC/-
|
delins |
|
|
0.700 |
1.000 |
6 |
1997 |
2012 |
rs1060499991
|
|
1
|
1.000 |
0.120 |
11 |
64804755 |
stop gained
|
C/T
|
snv |
|
|
0.710 |
1.000 |
5 |
1999 |
2012 |
rs104894267
|
|
2
|
1.000 |
0.120 |
11 |
64804789 |
stop gained
|
G/A;T
|
snv |
|
7.0E-06
|
0.700 |
1.000 |
4 |
2004 |
2011 |
rs1114167531
|
|
2
|
1.000 |
0.120 |
11 |
64804777 |
frameshift variant
|
-/CTCTCGGC
|
delins |
|
|
0.700 |
1.000 |
4 |
2002 |
2008 |
rs1114167536
|
|
2
|
1.000 |
0.120 |
11 |
64804753 |
frameshift variant
|
-/ACGGCTCC
|
delins |
|
|
0.700 |
1.000 |
4 |
2004 |
2010 |
rs1555166609
|
|
1
|
1.000 |
0.120 |
11 |
64809909 |
frameshift variant
|
-/GCTGG
|
delins |
|
|
0.700 |
1.000 |
4 |
1998 |
2014 |
rs750904332
|
|
2
|
1.000 |
0.120 |
11 |
64806312 |
stop gained
|
G/A;C;T
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
4 |
1997 |
2014 |
rs764570645
|
|
1
|
1.000 |
0.120 |
11 |
64805023 |
splice donor variant
|
CCTGTCCCTCA/-;CCTGTCCCTCACCTGTCCCTCA
|
delins |
|
|
0.700 |
1.000 |
4 |
1998 |
2007 |
rs794728615
|
|
5
|
0.882 |
0.160 |
11 |
64810025 |
stop gained
|
G/A;C
|
snv |
4.2E-06
|
|
0.710 |
1.000 |
4 |
1998 |
2014 |
rs864622615
|
|
1
|
1.000 |
0.120 |
11 |
64805171 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
1.000 |
4 |
2003 |
2017 |
rs1114167482
|
|
2
|
1.000 |
0.120 |
11 |
64806259 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
1.000 |
3 |
1998 |
2012 |
rs1114167489
|
|
2
|
1.000 |
0.120 |
11 |
64806231 |
splice donor variant
|
C/G;T
|
snv |
|
|
0.700 |
1.000 |
3 |
2002 |
2007 |
rs1114167524
|
|
2
|
1.000 |
0.120 |
11 |
64805159 |
frameshift variant
|
-/GGAC
|
ins |
|
|
0.700 |
1.000 |
3 |
1997 |
2006 |
rs1555166365
|
|
1
|
1.000 |
0.120 |
11 |
64809732 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
1.000 |
3 |
2002 |
2014 |
rs1565634591
|
|
1
|
1.000 |
0.120 |
11 |
64804202 |
splice acceptor variant
|
ACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGG/-
|
delins |
|
|
0.700 |
1.000 |
3 |
2000 |
2006 |
rs1565635941
|
|
1
|
1.000 |
0.120 |
11 |
64804492 |
frameshift variant
|
-/C
|
delins |
|
|
0.700 |
1.000 |
3 |
1999 |
2006 |