rs61750241
|
|
0.807 |
0.080 |
X |
154031022 |
frameshift variant
|
C/-
|
delins
|
|
|
Rett Syndrome
|
0.700 |
1.000 |
11 |
1999 |
2012 |
rs61748408
|
|
0.925 |
0.080 |
X |
154031360 |
missense variant
|
G/A;C;T
|
snv
|
|
|
Rett Syndrome
|
0.700 |
1.000 |
10 |
2000 |
2012 |
rs61748390
|
|
0.925 |
0.080 |
X |
154031427 |
missense variant
|
G/A;C
|
snv
|
|
|
Rett Syndrome
|
0.810 |
1.000 |
9 |
1988 |
2017 |
rs63749748
|
|
0.882 |
0.080 |
X |
154030628 |
splice acceptor variant
|
TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/-
|
delins
|
|
|
Rett Syndrome
|
0.700 |
1.000 |
6 |
2000 |
2012 |
rs61748396
|
|
0.882 |
0.080 |
X |
154031405 |
stop gained
|
G/C;T
|
snv
|
|
|
Rett Syndrome
|
0.700 |
1.000 |
5 |
2001 |
2007 |
rs61749723
|
|
0.925 |
0.080 |
X |
154030923 |
missense variant
|
G/A;C;T
|
snv
|
|
|
Rett Syndrome
|
0.800 |
1.000 |
5 |
1999 |
2017 |
rs61751443
|
|
0.925 |
0.080 |
X |
154030911 |
missense variant
|
C/A;G;T
|
snv
|
|
|
Rett Syndrome
|
0.800 |
1.000 |
5 |
1999 |
2017 |
rs267608465
|
|
1.000 |
0.080 |
X |
154031453 |
splice region variant
|
G/A;C;T
|
snv
|
1.7E-05;
5.5E-06
|
|
Rett Syndrome
|
0.700 |
1.000 |
4 |
2005 |
2015 |
rs61749743
|
|
1.000 |
0.080 |
X |
154031118 |
frameshift variant
|
C/-;CC
|
delins
|
|
|
Rett Syndrome
|
0.700 |
1.000 |
4 |
1992 |
2013 |
rs267608438
|
|
1.000 |
0.080 |
X |
154032381 |
stop gained
|
G/A;C
|
snv
|
5.5E-06
|
|
Rett Syndrome
|
0.700 |
1.000 |
2 |
2005 |
2013 |
rs61749751
|
|
0.925 |
0.080 |
X |
154031075 |
frameshift variant
|
G/-;GG;GGG
|
delins
|
|
|
Rett Syndrome
|
0.700 |
1.000 |
2 |
2002 |
2007 |
rs61751444
|
|
0.882 |
0.080 |
X |
154030903 |
missense variant
|
G/A
|
snv
|
|
|
Rett Syndrome
|
0.720 |
1.000 |
2 |
2007 |
2016 |
rs1060499620
|
|
1.000 |
0.080 |
X |
154030803 |
frameshift variant
|
-/CT
|
ins
|
|
|
Rett Syndrome
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1060499621
|
|
1.000 |
0.080 |
X |
154031150 |
frameshift variant
|
A/-
|
delins
|
|
|
Rett Syndrome
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1064792898
|
|
1.000 |
0.080 |
X |
154030699 |
frameshift variant
|
ACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGG/-
|
delins
|
|
|
Rett Syndrome
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1064792899
|
|
1.000 |
0.080 |
X |
154030690 |
inframe deletion
|
GGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTC/-
|
delins
|
|
|
Rett Syndrome
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs267608333
|
|
1.000 |
0.080 |
X |
154030623 |
frameshift variant
|
GGTGGGGTCCTCGGAGCTCTCGGGCT/-
|
delins
|
|
|
Rett Syndrome
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs267608520
|
|
1.000 |
0.080 |
X |
154031085 |
frameshift variant
|
ATCACCAT/CAC
|
delins
|
|
|
Rett Syndrome
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs267608525
|
|
1.000 |
0.080 |
X |
154031044 |
stop gained
|
G/A;C
|
snv
|
1.1E-05
|
|
Rett Syndrome
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs61751457
|
|
0.925 |
0.080 |
X |
154030799 |
frameshift variant
|
C/-;CC
|
delins
|
|
|
Rett Syndrome
|
0.710 |
1.000 |
1 |
2012 |
2013 |
rs104894864
|
|
1.000 |
0.080 |
X |
154030465 |
stop gained
|
C/A
|
snv
|
|
|
Rett Syndrome
|
0.700 |
|
0 |
|
|
rs1057518718
|
|
1.000 |
0.080 |
X |
154032252 |
missense variant
|
C/T
|
snv
|
|
|
Rett Syndrome
|
0.700 |
|
0 |
|
|
rs1064797104
|
|
1.000 |
0.080 |
X |
154031053 |
stop gained
|
-/TCAGCTTTTCGCTTCCTGCCGGGGC
|
delins
|
|
|
Rett Syndrome
|
0.700 |
|
0 |
|
|
rs1557134378
|
|
1.000 |
0.080 |
X |
154029799 |
splice acceptor variant
|
GACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTT/CCACGG
|
delins
|
|
|
Rett Syndrome
|
0.700 |
|
0 |
|
|
rs1557134481
|
|
1.000 |
0.080 |
X |
154029915 |
splice acceptor variant
|
GGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGG/-
|
delins
|
|
|
Rett Syndrome
|
0.700 |
|
0 |
|
|