rs1553361141
|
|
1
|
1.000 |
0.160 |
2 |
47445546 |
splice donor variant
|
AAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGG/-
|
delins |
|
|
0.700 |
1.000 |
8 |
2003 |
2013 |
rs63750521
|
|
1
|
1.000 |
0.160 |
2 |
47445644 |
stop gained
|
T/C;G
|
snv |
|
|
0.700 |
1.000 |
8 |
1994 |
2005 |
rs1553642657
|
|
1
|
1.000 |
0.160 |
3 |
37008811 |
splice donor variant
|
GGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGT/-
|
delins |
|
|
0.700 |
1.000 |
4 |
2003 |
2010 |
rs267607875
|
|
1
|
1.000 |
0.160 |
3 |
37048539 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
4 |
2005 |
2011 |
rs63750611
|
|
1
|
1.000 |
0.160 |
2 |
47429854 |
stop gained
|
C/G;T
|
snv |
4.4E-05
|
|
0.700 |
1.000 |
4 |
1996 |
2008 |
rs63750337
|
|
1
|
1.000 |
0.160 |
2 |
47403352 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
1.000 |
2 |
2004 |
2012 |
rs63750906
|
|
1
|
1.000 |
0.160 |
3 |
37004440 |
frameshift variant
|
A/-
|
del |
|
|
0.700 |
1.000 |
2 |
2005 |
2009 |
rs63751482
|
|
1
|
1.000 |
0.160 |
2 |
47403325 |
frameshift variant
|
CACGGCGAGGACGCGCTGCTGGCCGCCCG/-
|
delins |
|
|
0.700 |
1.000 |
2 |
2005 |
2009 |
rs786204321
|
|
1
|
1.000 |
0.160 |
2 |
47475249 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
1.000 |
2 |
2003 |
2011 |
rs1057520735
|
|
1
|
1.000 |
0.160 |
2 |
47476388 |
stop gained
|
C/G;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs1553356518
|
|
1
|
1.000 |
0.160 |
2 |
47429740 |
splice donor variant
|
ATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAG/-;ATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAG
|
delins |
|
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1553369194
|
|
1
|
1.000 |
0.160 |
2 |
47476540 |
inframe deletion
|
GAAATGTTGGAAACTGCT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1554306353
|
|
1
|
1.000 |
0.160 |
7 |
6005921 |
missense variant
|
T/G
|
snv |
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs267607964
|
|
1
|
1.000 |
0.160 |
2 |
47466657 |
splice acceptor variant
|
G/A;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs376258383
|
|
1
|
1.000 |
0.160 |
7 |
5999131 |
missense variant
|
C/T
|
snv |
3.6E-05
|
4.9E-05
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs41295282
|
|
1
|
1.000 |
0.160 |
3 |
37001024 |
missense variant
|
A/G
|
snv |
1.6E-05
|
7.0E-05
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs587779243
|
|
1
|
1.000 |
0.160 |
2 |
47800549 |
frameshift variant
|
GATT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs587779318
|
|
1
|
1.000 |
0.160 |
2 |
47798677 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs587779344
|
|
1
|
1.000 |
0.160 |
7 |
5997349 |
frameshift variant
|
GG/C;G
|
delins |
|
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs63749846
|
|
1
|
1.000 |
0.160 |
2 |
47480703 |
stop gained
|
T/A
|
snv |
|
|
0.700 |
1.000 |
1 |
1995 |
1995 |
rs63750280
|
|
1
|
1.000 |
0.160 |
2 |
47475129 |
missense variant
|
C/A;G
|
snv |
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs753075410
|
|
1
|
1.000 |
0.160 |
2 |
47416420 |
missense variant
|
T/A;C;G
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs786203075
|
|
1
|
1.000 |
0.160 |
7 |
5986831 |
missense variant
|
T/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs1060500702
|
|
1
|
1.000 |
0.160 |
3 |
37007050 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1064793600
|
|
1
|
1.000 |
0.160 |
2 |
47799597 |
inframe deletion
|
CTT/-
|
delins |
|
7.0E-06
|
0.700 |
|
0 |
|
|