rs56984562
|
|
0.827 |
0.200 |
1 |
156137666 |
missense variant
|
C/A;G;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
14 |
2003 |
2017 |
rs1553265342
|
|
1.000 |
0.080 |
1 |
156134909 |
missense variant
|
GC/TT
|
mnv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
11 |
2000 |
2015 |
rs61672878
|
|
0.776 |
0.200 |
1 |
156136094 |
missense variant
|
G/A;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
11 |
2000 |
2016 |
rs267607599
|
|
0.925 |
0.120 |
1 |
156136422 |
missense variant
|
A/G;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
10 |
2000 |
2015 |
rs57520892
|
|
0.776 |
0.200 |
1 |
156137204 |
missense variant
|
G/A;C
|
snv
|
4.1E-05
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
10 |
1999 |
2015 |
rs267607555
|
|
0.807 |
0.280 |
1 |
156136009 |
missense variant
|
C/T
|
snv
|
|
7.0E-06
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
9 |
2004 |
2017 |
rs397517889
|
|
0.925 |
0.120 |
1 |
156136093 |
missense variant
|
C/T
|
snv
|
|
7.0E-06
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
9 |
2003 |
2014 |
rs58596362
|
|
0.827 |
0.280 |
1 |
156138613 |
splice region variant
|
C/A;T
|
snv
|
8.1E-06
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
9 |
2003 |
2017 |
rs121912496
|
|
0.882 |
0.120 |
1 |
156134910 |
missense variant
|
C/G;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
8 |
2008 |
2015 |
rs59026483
|
|
0.827 |
0.160 |
1 |
156134457 |
missense variant
|
C/T
|
snv
|
|
7.0E-06
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
8 |
2002 |
2015 |
rs60458016
|
|
0.827 |
0.120 |
1 |
156136036 |
stop gained
|
G/A;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
8 |
2000 |
2014 |
rs267607571
|
|
0.882 |
0.160 |
1 |
156134458 |
missense variant
|
G/A;T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
7 |
2002 |
2017 |
rs60872029
|
|
0.925 |
0.120 |
1 |
156115010 |
inframe deletion
|
AAG/-
|
delins
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
7 |
2002 |
2014 |
rs61444459
|
|
0.851 |
0.160 |
1 |
156137667 |
missense variant
|
G/A;C
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
7 |
2000 |
2017 |
rs61195471
|
|
0.827 |
0.160 |
1 |
156134496 |
missense variant
|
G/A
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
6 |
1999 |
2012 |
rs150840924
|
|
0.807 |
0.240 |
1 |
156136359 |
missense variant
|
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
5 |
2003 |
2014 |
rs267607578
|
|
0.925 |
0.120 |
1 |
156136952 |
missense variant
|
G/A;C
|
snv
|
|
1.4E-05
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
5 |
2007 |
2017 |
rs267607592
|
|
1.000 |
0.080 |
1 |
156137233 |
splice donor variant
|
G/A
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
5 |
2005 |
2014 |
rs28933091
|
|
0.882 |
0.160 |
1 |
156134474 |
missense variant
|
C/A;G
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
5 |
2001 |
2013 |
rs58013325
|
|
1.000 |
0.080 |
1 |
156137144 |
frameshift variant
|
-/C
|
delins
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
5 |
2011 |
2017 |
rs58932704
|
|
0.776 |
0.200 |
1 |
156136413 |
missense variant
|
C/T
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
5 |
1991 |
2011 |
rs59332535
|
|
0.827 |
0.160 |
1 |
156134911 |
missense variant
|
G/A
|
snv
|
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
5 |
2000 |
2014 |
rs60682848
|
|
0.790 |
0.200 |
1 |
156134838 |
stop gained
|
C/T
|
snv
|
|
7.0E-06
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
5 |
1990 |
2014 |
rs60864230
|
|
0.790 |
0.280 |
1 |
156130658 |
missense variant
|
G/A;C;T
|
snv
|
4.0E-06
|
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
5 |
2001 |
2005 |
rs794728591
|
|
1.000 |
0.080 |
1 |
156134811 |
missense variant
|
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 |
1.000 |
5 |
2013 |
2018 |